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 FAM213B 127281 genome.wustl.edu 37 1 2520386 2520386 + Silent SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_152371.2 +1 predicted p.F162 0.638 13 0.000 7 0.714 - - - - - NULL CLSTN1 22883 genome.wustl.edu 37 1 9833382 9833382 + Silent SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001009566.1 -1 validated p.L54 0.195 220 0% 180 45% - - - - - HMMPfam_Cadherin,superfamily_Cadherin-like PTCHD2 57540 genome.wustl.edu 37 1 11562022 11562022 + Missense_Mutation SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_020780.1 +1 validated p.L325V 1.000 35 0% 21 33.3% - - probably_damaging(0.998) tolerated(0.2) deleterious(0.523) HMMPfam_Patched CLCN6 1185 genome.wustl.edu 37 1 11896029 11896029 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001286.2 +1 reviewed p.R600K 1.000 90 0% 59 37.3% - - benign(0) tolerated(0.32) neutral(0.024) superfamily_CBS-domain NPPA 4878 genome.wustl.edu 37 1 11907306 11907306 + Missense_Mutation SNP G G C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_006172.3 -1 reviewed p.S105C 0.134 96 0% 54 35.2% - - possibly_damaging(0.819) deleterious(0.05) deleterious(0.655) HMMPfam_ANP MFN2 9927 genome.wustl.edu 37 1 12056280 12056280 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001127660.1 +1 reviewed p.G127S 1.000 138 0% 94 43.6% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Dynamin_N,superfamily_P-loop containing nucleoside triphosphate hydrolases VPS13D 55187 genome.wustl.edu 37 1 12393322 12393322 + Missense_Mutation SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_015378.2 +1 reviewed p.S2776C 1.000 76 0% 114 30.7% - - benign(0.327) deleterious(0.05) neutral(0.448) NULL SPEN 23013 genome.wustl.edu 37 1 16260688 16260688 + Silent SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_015001.2 +1 reviewed p.V2651 1.000 64 0% 56 41.1% - - - - - NULL NECAP2 55707 genome.wustl.edu 37 1 16775627 16775627 + Missense_Mutation SNP G G C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001145277.1 +1 reviewed p.Q140H 1.000 217 0% 129 44.2% - - benign(0.394) tolerated(0.11) neutral(0.398) HMMPfam_DUF1681 NBPF1 55672 genome.wustl.edu 37 1 16901184 16901184 + Silent SNP C C T rs11580592 byCluster;byHapMap TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_017940.3 -1 predicted p.E732 0.017 556 0% 921 12.2% - - - - - HMMPfam_DUF1220 PADI4 23569 genome.wustl.edu 37 1 17690064 17690064 + Silent SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_012387.2 +1 reviewed p.F602 0.982 41 0% 20 50% - - - - - HMMPfam_PAD,superfamily_Pentein RNF186 54546 genome.wustl.edu 37 1 20141040 20141040 + Silent SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_019062.1 -1 provisional p.I185 0.041 73 0% 42 52.4% - - - - - NULL LYPLA2 11313 genome.wustl.edu 37 1 24121190 24121190 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_007260.2 +1 reviewed p.E222* 1.000 82 0% 34 11.8% - - - - - HMMPfam_Abhydrolase_2,superfamily_SSF53474 LDLRAP1 26119 genome.wustl.edu 37 1 25890238 25890238 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_015627.2 +1 reviewed p.E235K 0.129 19 0.000 8 0.500 - - benign(0.004) tolerated(0.48) neutral(0.011) NULL ARID1A 8289 genome.wustl.edu 37 1 27059260 27059260 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_006015.4 +1 reviewed p.Q633* 1.000 196 0% 175 44.6% - - - - - NULL GPATCH3 63906 genome.wustl.edu 37 1 27223896 27223896 + Missense_Mutation SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_022078.2 -1 validated p.E258Q 1.000 283 0% 206 39.8% - - probably_damaging(0.995) tolerated(0.14) deleterious(0.707) NULL TRNAU1AP 54952 genome.wustl.edu 37 1 28887750 28887750 + RNA SNP G G C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NR_003109.1 +1 validated NULL 0.999 58 0% 62 45.2% - - - - - - PEF1 553115 genome.wustl.edu 37 1 32098160 32098160 + Missense_Mutation SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_012392.3 -1 reviewed p.K187N 1.000 95 0% 45 42.2% - - probably_damaging(0.991) deleterious(0.01) deleterious(0.850) HMMSmart_EFh,HMMPfam_efhand,superfamily_SSF47473 LCK 3932 genome.wustl.edu 37 1 32740500 32740500 + Missense_Mutation SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 ENST00000373564 +1 known p.L90F 0.000 53 0% 25 40% - - unknown(0) - - superfamily_SH3 C1orf94 84970 genome.wustl.edu 37 1 34663001 34663001 + Silent SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001134734.1 +1 validated p.L166 0.032 30 0% 23 34.8% - - - - - NULL EPHA10 284656 genome.wustl.edu 37 1 38227478 38227478 + Missense_Mutation SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001099439.1 -1 validated p.R150H 0.952 26 0% 17 52.9% - - possibly_damaging(0.943) tolerated(0.49) neutral(0.398) HMMPfam_Ephrin_lbd,HMMSmart_SM00615,superfamily_Galactose-binding domain-like MACF1 23499 genome.wustl.edu 37 1 39748865 39748865 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_012090.3 +1 reviewed p.D239N 1.000 195 0% 206 34.5% - - benign(0.011) deleterious(0.03) neutral(0.365) HMMPfam_CH,HMMSmart_SM00033,superfamily_Calponin-homology domain CH-domain COL9A2 1298 genome.wustl.edu 37 1 40773876 40773876 + Silent SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001852.3 -1 reviewed p.P296 0.077 92 1.1% 44 20.5% - - - - - HMMPfam_Collagen SLC2A1 6513 genome.wustl.edu 37 1 43396779 43396779 + Missense_Mutation SNP G G C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_006516.2 -1 reviewed p.I71M 1.000 156 0% 100 40% - - probably_damaging(0.999) deleterious(0.04) deleterious(0.839) HMMPfam_Sugar_tr,superfamily_MFS_gen_substrate_transporter PCSK9 255738 genome.wustl.edu 37 1 55524222 55524222 + Missense_Mutation SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_174936.2 +1 reviewed p.R469W 0.000 79 0% 40 40% - - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL CACHD1 57685 genome.wustl.edu 37 1 65068581 65068581 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_020925.2 +1 validated p.R117Q 1.000 344 0% 386 45.1% - - benign(0.315) tolerated(0.26) neutral(0.133) HMMPfam_VWA_N RPE65 6121 genome.wustl.edu 37 1 68896848 68896848 + Silent SNP C C T rs62637003 TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_000329.2 -1 reviewed p.L450 1.000 149 0% 232 40.5% - - - - - HMMPfam_RPE65 ZRANB2 9406 genome.wustl.edu 37 1 71546640 71546640 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_203350.1 -1 validated p.W13* 1.000 130 0% 119 32.8% - - - - - HMMPfam_zf-RanBP,HMMSmart_SM00547,PatternScan_ZF_RANBP2_1,superfamily_Znf265 first zinc-finger domain LPHN2 23266 genome.wustl.edu 37 1 82450301 82450301 + Missense_Mutation SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_012302.2 +1 reviewed p.S1089L 1.000 130 0% 270 41.1% - - benign(0.408) tolerated(0.37) neutral(0.151) HMMPfam_Latrophilin BARHL2 343472 genome.wustl.edu 37 1 91180165 91180165 + Missense_Mutation SNP G G T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_020063.1 -1 validated p.S258R 0.975 177 0% 100 38% - - probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_Homeobox,HMMSmart_HOX,superfamily_Homeodomain_like KIAA1107 23285 genome.wustl.edu 37 1 92647147 92647147 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_015237.2 +1 validated p.D865N 1.000 79 0% 109 46.8% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL DPYD 1806 genome.wustl.edu 37 1 98386453 98386453 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_000110.3 -1 reviewed p.S9L 0.998 43 0% 24 33.3% - - benign(0) deleterious(0.01) neutral(0.406) superfamily_Helical_ferredxn AMY2A 279 genome.wustl.edu 37 1 104162265 104162265 + Silent SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_000699.2 +1 reviewed p.L201 0.996 553 0% 972 21.7% - - - - - HMMPfam_Alpha-amylase,HMMSmart_Aamy,superfamily_Glyco_hydro_cat PHTF1 10745 genome.wustl.edu 37 1 114253010 114253010 + Missense_Mutation SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_006608.2 -1 validated p.E379K 1.000 91 0% 72 40.3% - - probably_damaging(0.996) deleterious(0.01) deleterious(0.867) NULL NHLH2 4808 genome.wustl.edu 37 1 116380649 116380649 + Silent SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001111061.1 -1 validated p.K115 1.000 34 0% 19 36.8% - - - - - HMMPfam_HLH,HMMSmart_HLH,superfamily_HLH_basic NBPF7 343505 genome.wustl.edu 37 1 120384184 120384184 + Silent SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001047980.1 -1 predicted p.L126 0.535 211 0% 338 40.2% - - - - - NULL ANKRD34A 284615 genome.wustl.edu 37 1 145473854 145473854 + Missense_Mutation SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001039888.2 +1 validated p.P176A 0.416 72 0% 52 13.5% - - possibly_damaging(0.763) tolerated(0.76) neutral(0.284) superfamily_Ankyrin repeat PDZK1 5174 genome.wustl.edu 37 1 145762180 145762180 + Silent SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_002614.3 +1 provisional p.L453 0.989 291 0% 676 18.2% - - - - - HMMPfam_PDZ,HMMSmart_PDZ,superfamily_PDZ FMO5 2330 genome.wustl.edu 37 1 146658627 146658627 + Missense_Mutation SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001461.2 -1 reviewed p.R485Q 0.999 118 0% 221 22.2% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_FMO-like LINGO4 339398 genome.wustl.edu 37 1 151774172 151774172 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001004432.2 -1 provisional p.Q337* 0.992 110 0% 124 30.6% - - - - - superfamily_SSF52058 LINGO4 339398 genome.wustl.edu 37 1 151774507 151774507 + Missense_Mutation SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001004432.2 -1 provisional p.R225Q 0.000 49 0% 44 34.1% - - probably_damaging(0.988) tolerated(0.2) deleterious(0.486) superfamily_SSF52058 RORC 6097 genome.wustl.edu 37 1 151785775 151785775 + Missense_Mutation SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_005060.3 -1 reviewed p.D372N 0.580 190 0% 231 45% - - benign(0) tolerated(0.55) neutral(0.007) HMMPfam_Hormone_recep,HMMSmart_SM00430,superfamily_Nuclear receptor ligand-binding domain C1orf43 25912 genome.wustl.edu 37 1 154186951 154186951 + Missense_Mutation SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001098616.1 -1 validated p.E90K 1.000 304 0% 479 22.5% - - benign(0) tolerated(0.19) neutral(0.050) HMMPfam_NICE-3 MTX1 4580 genome.wustl.edu 37 1 155182524 155182524 + Nonsense_Mutation SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 ENST00000424959 +1 known p.S194* 0.999 133 0% 149 19.5% - - benign(0.084) tolerated(0.53) neutral(0.013) superfamily_Glutathione S-transferase (GST) C-terminal domain,HMMPfam_Tom37 MEF2D 4209 genome.wustl.edu 37 1 156452286 156452286 + Silent SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_005920.2 -1 provisional p.L67 1.000 441 0% 486 25.7% - - - - - superfamily_SRF-like NTRK1 4914 genome.wustl.edu 37 1 156843544 156843544 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_002529.3 +1 reviewed p.E324K 0.996 49 0% 41 26.8% - - benign(0.012) tolerated(0.06) neutral(0.323) superfamily_Immunoglobulin NTRK1 4914 genome.wustl.edu 37 1 156851254 156851254 + Silent SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_002529.3 +1 reviewed p.I737 0.995 24 0% 17 23.5% - - - - - HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) FCRL1 115350 genome.wustl.edu 37 1 157771312 157771312 + Silent SNP G G C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_052938.4 -1 reviewed p.L314 0.000 83 0% 226 18.1% - - - - - NULL OR10Z1 128368 genome.wustl.edu 37 1 158576883 158576883 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001004478.1 +1 provisional p.A219T 0.000 54 0% 216 22.7% - - benign(0.001) tolerated(0.21) neutral(0.044) HMMPfam_7tm_1,superfamily_SSF81321 SPTA1 6708 genome.wustl.edu 37 1 158606548 158606548 + Missense_Mutation SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_003126.2 -1 reviewed p.E1731D 0.974 73 0% 231 23.4% - - benign(0.005) deleterious(0.01) neutral(0.406) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat SPTA1 6708 genome.wustl.edu 37 1 158615112 158615112 + Missense_Mutation SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_003126.2 -1 reviewed p.E1354K 0.868 93 0% 267 20.2% - - benign(0.208) tolerated(0.07) neutral(0.339) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat AIM2 9447 genome.wustl.edu 37 1 159035753 159035753 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_004833.1 -1 reviewed p.L255F 0.003 221 0% 324 28.1% - - probably_damaging(0.996) deleterious(0.01) deleterious(0.867) HMMPfam_HIN AIM2 9447 genome.wustl.edu 37 1 159036039 159036039 + Silent SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_004833.1 -1 reviewed p.L159 0.755 147 0% 260 22.7% - - - - - HMMPfam_HIN OR10J3 441911 genome.wustl.edu 37 1 159284264 159284264 + Silent SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001004467.1 -1 provisional p.F62 0.982 170 0% 631 22% - - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR10J1 26476 genome.wustl.edu 37 1 159410454 159410454 + Silent SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_012351.2 +1 validated p.L302 0.997 139 0% 300 28.7% - - - - - superfamily_Family A G protein-coupled receptor-like ATP1A2 477 genome.wustl.edu 37 1 160099141 160099141 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_000702.3 +1 reviewed p.R471K 0.999 164 0% 253 19.4% - - benign(0) tolerated(0.82) neutral(0.001) HMMPfam_Hydrolase,superfamily_SSF56784,superfamily_SSF81660,superfamily_SSF81665 RGS4 5999 genome.wustl.edu 37 1 163042250 163042250 + Missense_Mutation SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001102445.2 +1 reviewed p.S134C 1.000 120 0% 431 17.9% - - probably_damaging(0.995) tolerated(0.06) deleterious(0.780) NULL RGS4 5999 genome.wustl.edu 37 1 163043393 163043393 + Missense_Mutation SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001102445.2 +1 reviewed p.S217L 1.000 127 0% 517 42.7% - - probably_damaging(0.984) tolerated(0.2) deleterious(0.479) HMMPfam_RGS,HMMSmart_RGS,superfamily_Regulat_G_prot_signal_superfam DCAF6 55827 genome.wustl.edu 37 1 168014287 168014287 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_018442.2 +1 validated p.E637K 0.005 108 0% 178 25.3% - - possibly_damaging(0.649) tolerated(0.22) neutral(0.270) superfamily_WD40_like C1orf9 51430 genome.wustl.edu 37 1 172502431 172502431 + Silent SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 ENST00000367723 +1 known p.L148 0.000 30 0% 22 40.9% - - - - - NULL FASLG 356 genome.wustl.edu 37 1 172634997 172634997 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_000639.1 +1 reviewed p.M229I 0.998 159 0% 296 45.3% - - benign(0) tolerated(0.13) neutral(0.253) HMMPfam_TNF,HMMSmart_SM00207,superfamily_TNF-like ASTN1 460 genome.wustl.edu 37 1 176915218 176915218 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_004319.1 -1 validated p.S698F 1.000 60 0% 149 48.3% - - possibly_damaging(0.906) deleterious(0) deleterious(0.804) NULL TOR3A 64222 genome.wustl.edu 37 1 179057214 179057214 + Silent SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_022371.3 +1 validated p.L270 1.000 117 0% 100 30% - - - - - HMMPfam_Torsin,superfamily_P-loop containing nucleoside triphosphate hydrolases RGSL1 353299 genome.wustl.edu 37 1 182499401 182499401 + Silent SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001137669.1 +1 validated p.A716 0.002 119 0% 327 18.3% - - - - - superfamily_Regulator of G-protein signaling RGS FAM129A 116496 genome.wustl.edu 37 1 184792789 184792789 + Missense_Mutation SNP T T G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_052966.2 -1 validated p.K269Q 0.999 152 0% 346 22.5% - - probably_damaging(1) tolerated(0.48) deleterious(0.510) NULL HMCN1 83872 genome.wustl.edu 37 1 186072639 186072639 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_031935.2 +1 reviewed p.E3537K 1.000 113 0% 267 25.1% - - probably_damaging(1) tolerated(0.07) deleterious(0.819) HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin ASPM 259266 genome.wustl.edu 37 1 197094248 197094248 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_018136.4 -1 reviewed p.Q1004* 1.000 256 0% 695 22.7% - - - - - HMMSmart_SM00033,superfamily_Calponin-homology domain CH-domain ASPM 259266 genome.wustl.edu 37 1 197112130 197112130 + Missense_Mutation SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_018136.4 -1 reviewed p.E418K 0.002 275 0% 448 16.7% - - benign(0.055) tolerated(0.26) neutral(0.038) NULL KIF21B 23046 genome.wustl.edu 37 1 200960827 200960827 + Missense_Mutation SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_017596.2 -1 provisional p.Q804H 1.000 87 0% 72 13.9% - - probably_damaging(0.991) deleterious(0.01) deleterious(0.850) superfamily_WD40_like RNPEP 6051 genome.wustl.edu 37 1 201970799 201970799 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_020216.3 +1 validated p.E444K 0.946 298 0% 402 19.4% - - benign(0) tolerated(1) - superfamily_SSF55486 LOC100289488 100289488 genome.wustl.edu 37 1 201984579 201984579 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 XM_002342157.1 -1 model p.Q9* 0.000 38 0% 54 25.9% - - - - - NULL TMCC2 9911 genome.wustl.edu 37 1 205241216 205241216 + Silent SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_014858.3 +1 validated p.L698 1.000 57 0% 65 23.1% - - - - - HMMPfam_Tmemb_cc2 MAPKAPK2 9261 genome.wustl.edu 37 1 206902809 206902809 + Missense_Mutation SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_032960.2 +1 reviewed p.R185W 1.000 164 0% 200 21% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase FAIM3 9214 genome.wustl.edu 37 1 207087146 207087146 + Missense_Mutation SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001142472.1 -1 validated p.D111H 1.000 165 0% 221 26.2% - - probably_damaging(0.982) deleterious(0.02) deleterious(0.809) HMMSmart_SM00409,superfamily_Immunoglobulin CENPF 1063 genome.wustl.edu 37 1 214825193 214825193 + Missense_Mutation SNP G G C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_016343.3 +1 reviewed p.K2708N 0.586 176 0% 369 19.2% - - benign(0.001) tolerated(0.21) neutral(0.044) NULL USH2A 7399 genome.wustl.edu 37 1 215821005 215821005 + Missense_Mutation SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_206933.2 -1 reviewed p.E4884K 0.999 71 0% 130 20.8% - - probably_damaging(0.996) tolerated(0.72) neutral(0.463) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III RAB3GAP2 25782 genome.wustl.edu 37 1 220330777 220330777 + Silent SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_012414.3 -1 reviewed p.A1130 0.125 86 0% 219 19.6% - - - - - NULL DNAH14 127602 genome.wustl.edu 37 1 225347047 225347047 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001373.1 +1 validated p.E1747K 0.901 460 0% 699 21.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_P-loop containing nucleoside triphosphate hydrolases PSEN2 5664 genome.wustl.edu 37 1 227073295 227073295 + Missense_Mutation SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_000447.2 +1 reviewed p.S138C 1.000 141 0% 157 24.8% - - probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_Presenilin,HMMSmart_SM00730 CDC42BPA 8476 genome.wustl.edu 37 1 227182594 227182594 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_003607.3 -1 reviewed p.S1653L 0.983 54 0% 77 22.1% - - possibly_damaging(0.626) deleterious(0) deleterious(0.662) NULL OBSCN 84033 genome.wustl.edu 37 1 228480483 228480483 + Silent SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001098623.1 +1 reviewed p.V3621 0.014 174 0% 224 17% - - - - - HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin OBSCN 84033 genome.wustl.edu 37 1 228537645 228537645 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 ENST00000441106 +1 known p.W684* 1.000 54 0% 57 19.3% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin TRIM17 51127 genome.wustl.edu 37 1 228598869 228598869 + Silent SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001024940.2 -1 reviewed p.V178 0.052 76 0% 91 24.2% - - - - - NULL NUP133 55746 genome.wustl.edu 37 1 229580721 229580721 + Missense_Mutation SNP G G C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_018230.2 -1 reviewed p.P1092A 1.000 263 0% 610 24.3% - - probably_damaging(1) tolerated(0.15) deleterious(0.741) NULL LOC100288792 100288792 genome.wustl.edu 37 1 233145950 233145950 + Missense_Mutation SNP G G C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 XM_002342175.1 +1 model p.E68D 0.002 2 0.000 4 1.000 - - - - - NULL PCNXL2 80003 genome.wustl.edu 37 1 233161098 233161098 + Missense_Mutation SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_014801.3 -1 provisional p.E1467K 1.000 125 0% 197 23.4% - - possibly_damaging(0.808) tolerated(0.06) deleterious(0.627) NULL RYR2 6262 genome.wustl.edu 37 1 237674992 237674992 + Missense_Mutation SNP G G C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001035.2 +1 reviewed p.R908T 1.000 122 0% 206 41.3% - - possibly_damaging(0.915) - - HMMPfam_RyR RYR2 6262 genome.wustl.edu 37 1 237947507 237947507 + Silent SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001035.2 +1 reviewed p.V4165 1.000 59 0% 151 21.2% - - - - - NULL CEP170 9859 genome.wustl.edu 37 1 243349584 243349584 + Missense_Mutation SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_014812.2 -1 reviewed p.E417K 0.994 396 0.3% 760 20.3% - - possibly_damaging(0.878) deleterious(0) deleterious(0.786) NULL C1orf100 200159 genome.wustl.edu 37 1 244552291 244552291 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001012970.1 +1 predicted p.R122* 0.019 191 0% 379 19.5% - - - - - NULL OR14K1 343170 genome.wustl.edu 37 1 247902042 247902042 + Silent SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 ENST00000283225 +1 known p.V42 0.001 111 0% 329 25.2% - - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR14K1 343170 genome.wustl.edu 37 1 247902159 247902159 + Silent SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 ENST00000283225 +1 known p.L81 0.000 168 0% 440 20.9% - - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR2L8 391190 genome.wustl.edu 37 1 248112944 248112944 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001001963.1 +1 provisional p.R262K 0.302 252 0% 481 23.1% - - benign(0.002) tolerated(0.86) neutral(0.001) HMMPfam_7tm_1,superfamily_SSF81321 OR2L5 81466 genome.wustl.edu 37 1 248185713 248185713 + Missense_Mutation SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 ENST00000355281 +1 known p.S155F 0.001 173 0% 491 25.5% - - possibly_damaging(0.936) deleterious(0) deleterious(0.826) HMMPfam_7tm_1,superfamily_SSF81321 OR2T34 127068 genome.wustl.edu 37 1 248737909 248737909 + Silent SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001001821.1 -1 provisional p.L50 0.004 213 0% 440 20.7% - - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR2T27 403239 genome.wustl.edu 37 1 248813562 248813562 + Silent SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001001824.1 -1 provisional p.L208 0.000 154 0% 286 35.7% - - - - - HMMPfam_7tm_1,superfamily_SSF81321 MYT1L 23040 genome.wustl.edu 37 2 1842994 1842994 + Missense_Mutation SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_015025.2 -1 validated p.E1001K 1.000 24 0% 14 50% - - probably_damaging(0.987) deleterious(0.03) deleterious(0.801) superfamily_SSF103637 KLF11 8462 genome.wustl.edu 37 2 10188235 10188235 + Missense_Mutation SNP G G C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_003597.4 +1 reviewed p.Q257H 0.314 292 0% 194 37.6% - - possibly_damaging(0.924) tolerated(0.17) neutral(0.432) NULL SMC6 79677 genome.wustl.edu 37 2 17851810 17851810 + Missense_Mutation SNP G G T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001142286.1 -1 validated p.F981L 0.979 70 0% 142 36.6% - - benign(0.001) tolerated(0.8) neutral(0.001) HMMPfam_SMC_N,superfamily_P-loop containing nucleoside triphosphate hydrolases NCOA1 8648 genome.wustl.edu 37 2 24952377 24952377 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_003743.4 +1 reviewed p.G965E 1.000 135 0% 138 41.3% - - probably_damaging(1) tolerated(0.06) deleterious(0.823) superfamily_Nuclear receptor coactivator interlocking domain,HMMPfam_Nuc_rec_co-act FAM59B 150946 genome.wustl.edu 37 2 26411033 26411033 + Silent SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 ENST00000380681 +1 known p.L957 1.000 116 0% 47 42.6% - - - - - HMMPfam_SAM_1,superfamily_SAM/Pointed domain HADHB 3032 genome.wustl.edu 37 2 26501535 26501535 + Missense_Mutation SNP G G C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_000183.2 +1 reviewed p.E166Q 1.000 290 0% 341 41.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Thiolase_N,superfamily_Thiolase-like ZNF513 130557 genome.wustl.edu 37 2 27601433 27601433 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_144631.4 -1 validated p.P234S 1.000 57 0% 26 65.4% - - unknown(0) tolerated(0.07) - NULL SLC4A1AP 22950 genome.wustl.edu 37 2 27888113 27888113 + Silent SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_018158.2 +1 validated p.K324 0.155 440 0% 391 41.2% - - - - - NULL TTC27 55622 genome.wustl.edu 37 2 33012050 33012050 + Splice_Site SNP G G C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_017735.3 +1 provisional e16-1 1.000 125 0% 190 37.9% - - - - - - DHX57 90957 genome.wustl.edu 37 2 39089347 39089347 + Nonsense_Mutation SNP G G C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_198963.1 -1 provisional p.S171* 0.000 113 0% 152 41.4% - - - - - NULL DHX57 90957 genome.wustl.edu 37 2 39089410 39089410 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_198963.1 -1 provisional p.P150L 0.617 152 0% 168 45.8% - - possibly_damaging(0.65) tolerated(0.12) deleterious(0.489) NULL MSH6 2956 genome.wustl.edu 37 2 48028205 48028205 + Missense_Mutation SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_000179.2 +1 reviewed p.S1028L 0.998 158 0% 180 33.9% - - benign(0.067) tolerated(0.12) neutral(0.265) HMMSmart_SM00533,superfamily_DNA repair protein MutS domain III PPP1R21 129285 genome.wustl.edu 37 2 48681851 48681851 + Missense_Mutation SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001135629.1 +1 validated p.L82V 0.384 178 0% 142 32.4% - - benign(0.04) tolerated(0.36) neutral(0.022) HMMPfam_KLRAQ STON1-GTF2A1L 286749 genome.wustl.edu 37 2 48848035 48848035 + Missense_Mutation SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_172311.1 +1 reviewed p.R727W 0.979 207 0% 181 47.5% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TFIIA,superfamily_TFIIA_helical EHBP1 23301 genome.wustl.edu 37 2 63085585 63085585 + Missense_Mutation SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_015252.3 +1 reviewed p.Q227E 1.000 229 0% 235 39.6% - - benign(0.124) tolerated(1) neutral(0.010) NULL SLC1A4 6509 genome.wustl.edu 37 2 65248101 65248101 + Missense_Mutation SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_003038.3 +1 validated p.L474V 1.000 68 0% 55 43.6% - - probably_damaging(0.999) tolerated(1) deleterious(0.490) HMMPfam_SDF LOC100287788 100287788 genome.wustl.edu 37 2 74605078 74605078 + Silent SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 XM_002342212.1 +1 model p.C273 0.035 139 0% 136 38.2% - - - - - NULL USP39 10713 genome.wustl.edu 37 2 85868137 85868137 + Missense_Mutation SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_006590.2 +1 validated p.F441L 1.000 150 0% 147 39.5% - - possibly_damaging(0.592) deleterious(0.01) deleterious(0.610) HMMPfam_UCH,superfamily_Cysteine proteinases THNSL2 55258 genome.wustl.edu 37 2 88474265 88474265 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_018271.3 +1 validated p.A111T 1.000 191 0% 160 45% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PALP,superfamily_Tryptophan synthase beta subunit-like PLP-dependent enzymes LOC344065 344065 genome.wustl.edu 37 2 95880578 95880578 + Silent SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 XM_292895.7 +1 model p.L282 0.000 43 0% 80 50% - - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers SEMA4C 54910 genome.wustl.edu 37 2 97527357 97527357 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_017789.4 -1 validated p.S544L 0.059 189 0% 89 33.7% - - benign(0) tolerated(0.33) neutral(0.024) HMMPfam_PSI,HMMSmart_PSI,superfamily_Plexin-like_fold NPAS2 4862 genome.wustl.edu 37 2 101591350 101591350 + Missense_Mutation SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_002518.3 +1 reviewed p.S409L 0.998 85 1.2% 47 53.2% - - probably_damaging(0.958) tolerated(0.09) deleterious(0.698) NULL TGFBRAP1 9392 genome.wustl.edu 37 2 105892022 105892022 + Missense_Mutation SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001142621.1 -1 validated p.E554K 0.324 273 0% 249 30.1% - - benign(0.226) tolerated(0.07) neutral(0.342) NULL ZC3H6 376940 genome.wustl.edu 37 2 113089521 113089521 + Nonsense_Mutation SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_198581.2 +1 validated p.S1009* 0.011 120 0% 142 36.6% - - - - - NULL GPR17 2840 genome.wustl.edu 37 2 128408553 128408553 + Missense_Mutation SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_005291.2 +1 validated p.L110V 1.000 113 0% 58 48.3% - - possibly_damaging(0.706) tolerated(0.08) deleterious(0.554) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like WDR33 55339 genome.wustl.edu 37 2 128481933 128481933 + Silent SNP G G C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_018383.3 -1 reviewed p.L390 1.000 146 0% 137 40.9% - - - - - HMMSmart_WD40,superfamily_WD40_like,HMMPfam_WD40 LCT 3938 genome.wustl.edu 37 2 136574936 136574936 + Missense_Mutation SNP G G C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_002299.2 -1 reviewed p.S561C 0.972 46 0% 39 33.3% - - probably_damaging(0.974) tolerated(0.1) deleterious(0.702) HMMPfam_Glyco_hydro_1,superfamily_Glyco_hydro_cat MCM6 4175 genome.wustl.edu 37 2 136620179 136620179 + Silent SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_005915.4 -1 reviewed p.L406 0.946 89 0% 99 40.4% - - - - - HMMPfam_MCM,HMMSmart_SM00350,superfamily_P-loop containing nucleoside triphosphate hydrolases ZEB2 9839 genome.wustl.edu 37 2 145182432 145182432 + Missense_Mutation SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_014795.3 -1 reviewed p.E112K 1.000 266 0% 421 39.4% - - benign(0.086) tolerated(0.06) neutral(0.329) NULL GALNT5 11227 genome.wustl.edu 37 2 158152932 158152932 + Missense_Mutation SNP G G C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_014568.1 +1 provisional p.R635T 1.000 299 0% 493 43.2% - - probably_damaging(0.998) deleterious(0.02) deleterious(0.857) HMMPfam_Glycos_transf_2,superfamily_Nucleotide-diphospho-sugar transferases SCN9A 6335 genome.wustl.edu 37 2 167055799 167055799 + Missense_Mutation SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_002977.3 -1 reviewed p.E1773K 1.000 456 0% 439 40.1% - - possibly_damaging(0.892) deleterious(0) deleterious(0.796) superfamily_Voltage-gated potassium channels SCN7A 6332 genome.wustl.edu 37 2 167288922 167288922 + Nonsense_Mutation SNP G G C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_002976.2 -1 validated p.S833* 1.000 216 0% 423 39.5% - - - - - HMMPfam_Na_trans_assoc ABCB11 8647 genome.wustl.edu 37 2 169825872 169825872 + Missense_Mutation SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_003742.2 -1 reviewed p.E667Q 0.000 96 0% 339 41.9% - - benign(0.045) tolerated(0.27) neutral(0.036) NULL LRP2 4036 genome.wustl.edu 37 2 170103239 170103239 + Missense_Mutation SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_004525.2 -1 reviewed p.D1056N 1.000 197 0% 193 44% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ldl_recept_a,HMMSmart_LDLa,PatternScan_LDLRA_1,superfamily_LDL_rcpt_classA_cys-rich UBR3 130507 genome.wustl.edu 37 2 170783882 170783882 + Missense_Mutation SNP G G C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_172070.3 +1 validated p.M797I 1.000 211 0% 243 39.5% - - possibly_damaging(0.737) tolerated(0.15) deleterious(0.510) NULL OLA1 29789 genome.wustl.edu 37 2 174946710 174946710 + Silent SNP A A G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_013341.3 -1 validated p.L271 1.000 177 0% 258 12.4% - - - - - superfamily_P-loop containing nucleoside triphosphate hydrolases NFE2L2 4780 genome.wustl.edu 37 2 178098960 178098960 + Missense_Mutation SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_006164.3 -1 validated p.D29H 1.000 202 0% 245 40.4% - - unknown(0) deleterious(0) - NULL TTN 7273 genome.wustl.edu 37 2 179395332 179395332 + Nonsense_Mutation SNP G G C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 ENST00000356127 -1 known p.S32767* 1.000 264 0% 414 40.3% - - - - - HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set COL3A1 1281 genome.wustl.edu 37 2 189861927 189861927 + Missense_Mutation SNP G G C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_000090.3 +1 reviewed p.G600R 1.000 203 0% 265 36.6% - - unknown(0) deleterious(0) - HMMPfam_Collagen ANKAR 150709 genome.wustl.edu 37 2 190559717 190559717 + Missense_Mutation SNP A A C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_144708.3 +1 validated p.I369L 1.000 136 0.7% 166 12% - - benign(0.157) tolerated(0.69) neutral(0.016) superfamily_Ankyrin repeat ALS2 57679 genome.wustl.edu 37 2 202591477 202591477 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_020919.3 -1 reviewed p.S1031L 1.000 115 0% 129 38% - - possibly_damaging(0.918) tolerated(0.3) neutral(0.397) NULL ABCA12 26154 genome.wustl.edu 37 2 215884470 215884470 + Silent SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_173076.2 -1 reviewed p.F446 0.824 115 0% 137 40.1% - - - - - NULL PLCD4 84812 genome.wustl.edu 37 2 219486287 219486287 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_032726.2 +1 provisional p.E169K 1.000 346 0% 314 43.3% - - possibly_damaging(0.494) tolerated(0.15) neutral(0.405) superfamily_EF-hand CCDC108 255101 genome.wustl.edu 37 2 219890782 219890782 + Missense_Mutation SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_194302.2 -1 provisional p.E771Q 0.988 79 0% 46 39.1% - - probably_damaging(0.972) tolerated(0.06) deleterious(0.736) NULL SPEG 10290 genome.wustl.edu 37 2 220348792 220348792 + Missense_Mutation SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_005876.4 +1 validated p.P2203S 0.001 75 0% 25 28% - - benign(0.025) tolerated(0.09) neutral(0.297) NULL DNER 92737 genome.wustl.edu 37 2 230377604 230377604 + Missense_Mutation SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_139072.3 -1 validated p.E348K 1.000 122 0% 189 40.2% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMSmart_EGF,superfamily_SSF57196 HDLBP 3069 genome.wustl.edu 37 2 242170281 242170281 + Missense_Mutation SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_005336.3 -1 validated p.E1123K 0.917 197 0% 144 31.9% - - benign(0.006) deleterious(0.01) neutral(0.406) superfamily_SSF54791 ATG7 10533 genome.wustl.edu 37 3 11340199 11340199 + Silent SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_006395.2 +1 validated p.L10 0.991 243 0% 295 27.8% - - - - - NULL ZFYVE20 64145 genome.wustl.edu 37 3 15116191 15116191 + Missense_Mutation SNP G G C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_022340.2 -1 validated p.L485V 0.994 72 0% 51 52.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL NEK10 152110 genome.wustl.edu 37 3 27215931 27215931 + Silent SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 ENST00000396636 -1 known p.F925 1.000 140 0% 308 54.2% - - - - - NULL ITGA9 3680 genome.wustl.edu 37 3 37774208 37774208 + Missense_Mutation SNP G G C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_002207.2 +1 reviewed p.E691D 1.000 203 0% 222 55% - - probably_damaging(0.997) tolerated(0.46) deleterious(0.478) HMMPfam_Integrin_alpha2,superfamily_SSF69179 ZNF35 7584 genome.wustl.edu 37 3 44700846 44700846 + Missense_Mutation SNP G G C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_003420.3 +1 validated p.E331Q 0.997 120 0% 250 27.6% - - probably_damaging(0.975) deleterious(0) deleterious(0.861) superfamily_C2H2 and C2HC zinc fingers LIMD1 8994 genome.wustl.edu 37 3 45714232 45714232 + Silent SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_014240.2 +1 validated p.V564 1.000 155 0% 188 28.7% - - - - - HMMPfam_LIM,HMMSmart_LIM,PatternScan_LIM_DOMAIN_1,superfamily_SSF57716 CSPG5 10675 genome.wustl.edu 37 3 47619102 47619102 + Missense_Mutation SNP G G C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_006574.3 -1 validated p.I138M 0.000 21 0.000 9 0.667 - - benign(0.002) deleterious(0.02) neutral(0.383) HMMPfam_Chon_Sulph_att SLC25A20 788 genome.wustl.edu 37 3 48921465 48921465 + Missense_Mutation SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_000387.4 -1 reviewed p.K97N 1.000 149 0% 167 58.1% - - probably_damaging(0.999) deleterious(0.03) deleterious(0.855) superfamily_Mitoch_carrier,HMMPfam_Mito_carr AMIGO3 386724 genome.wustl.edu 37 3 49756607 49756607 + Missense_Mutation SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_198722.2 -1 validated p.D98H 0.001 26 0% 12 75% - - benign(0.023) tolerated(0.1) neutral(0.287) superfamily_SSF52058 CACNA2D2 9254 genome.wustl.edu 37 3 50405253 50405253 + Missense_Mutation SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001005505.1 -1 reviewed p.D742N 1.000 93 0% 71 31% - - possibly_damaging(0.894) tolerated(0.49) neutral(0.362) NULL ACY1 95 genome.wustl.edu 37 3 52020284 52020284 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_000666.1 +1 reviewed p.V125M 0.950 52 0% 44 43.2% - - possibly_damaging(0.916) deleterious(0) deleterious(0.811) PatternScan_ARGE_DAPE_CPG2_2,HMMPfam_Peptidase_M20,superfamily_SSF53187 NT5DC2 64943 genome.wustl.edu 37 3 52559279 52559279 + Silent SNP T T C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001134231.1 -1 validated p.E384 0.554 42 0% 33 54.5% - - - - - HMMPfam_5_nucleotid FAM208A 23272 genome.wustl.edu 37 3 56675775 56675775 + Missense_Mutation SNP G G C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001112736.1 -1 validated p.P741A 0.458 108 0% 161 54.7% - - possibly_damaging(0.477) tolerated(0.6) neutral(0.162) NULL C3orf67 200844 genome.wustl.edu 37 3 58852332 58852332 + Silent SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_198463.2 -1 validated p.L281 0.000 398 0% 499 56.7% - - - - - NULL FHIT 2272 genome.wustl.edu 37 3 60522690 60522690 + Silent SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_002012.2 -1 reviewed p.S2 0.000 185 0% 268 31.3% - - - - - superfamily_HIT-like EPHA3 2042 genome.wustl.edu 37 3 89448533 89448533 + Silent SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_005233.5 +1 reviewed p.L499 1.000 117 0% 185 23.8% - - - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III NSUN3 63899 genome.wustl.edu 37 3 93845075 93845075 + Missense_Mutation SNP G G T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_022072.3 +1 provisional p.R255L 1.000 81 0% 156 26.3% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Nol1_Nop2_Fmu,superfamily_SSF53335 HHLA2 11148 genome.wustl.edu 37 3 108072423 108072423 + Missense_Mutation SNP C C A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_007072.2 +1 provisional p.H72N 0.175 77 0% 315 28.9% - - possibly_damaging(0.642) deleterious(0.01) deleterious(0.631) HMMSmart_IG,HMMPfam_V-set,superfamily_SSF48726 TIMMDC1 51300 genome.wustl.edu 37 3 119219642 119219642 + Missense_Mutation SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_016589.3 +1 validated p.H99D 0.902 313 0% 338 26.9% - - benign(0.15) tolerated(0.2) neutral(0.062) NULL ADPRH 141 genome.wustl.edu 37 3 119306535 119306535 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001125.2 +1 reviewed p.R295Q 1.000 146 0.7% 166 32.5% - - probably_damaging(1) tolerated(0.07) deleterious(0.819) HMMPfam_ADP_ribosyl_GH,superfamily_ADP-ribosylglycohydrolase POLQ 10721 genome.wustl.edu 37 3 121206992 121206992 + Missense_Mutation SNP G G C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_199420.3 -1 validated p.P1596A 0.000 262 0% 479 28% - - benign(0.026) tolerated(1) neutral(0.001) NULL POLQ 10721 genome.wustl.edu 37 3 121207343 121207343 + Missense_Mutation SNP G G C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_199420.3 -1 validated p.P1479A 0.001 151 0% 349 28.7% - - probably_damaging(0.978) deleterious(0.01) deleterious(0.826) NULL CCDC58 131076 genome.wustl.edu 37 3 122102041 122102041 + Missense_Mutation SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001017928.2 -1 validated p.E11Q 1.000 54 0% 30 16.7% - - possibly_damaging(0.926) tolerated(0.32) neutral(0.399) HMMPfam_Cid2 HSPBAP1 79663 genome.wustl.edu 37 3 122471443 122471443 + Missense_Mutation SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_024610.4 -1 provisional p.E274Q 1.000 150 0% 212 47.2% - - possibly_damaging(0.756) tolerated(0.15) deleterious(0.520) HMMSmart_SM00558,superfamily_Clavaminate synthase-like MYLK 4638 genome.wustl.edu 37 3 123411669 123411669 + Missense_Mutation SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_053025.3 -1 reviewed p.A1160T 1.000 44 0% 41 63.4% - - probably_damaging(0.963) tolerated(0.13) deleterious(0.658) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin PIK3CB 5291 genome.wustl.edu 37 3 138426123 138426123 + Missense_Mutation SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_006219.1 -1 provisional p.E470K 1.000 249 0% 603 27.7% - - possibly_damaging(0.641) tolerated(0.13) deleterious(0.477) superfamily_C2_CaLB ATR 545 genome.wustl.edu 37 3 142268344 142268344 + Missense_Mutation SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001184.3 -1 reviewed p.E1050Q 1.000 45 0% 114 53.5% - - probably_damaging(0.985) tolerated(0.36) neutral(0.452) superfamily_ARM repeat HPS3 84343 genome.wustl.edu 37 3 148858141 148858141 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_032383.3 +1 reviewed p.E190K 0.842 362 0% 540 28.9% - - possibly_damaging(0.585) tolerated(0.07) deleterious(0.520) NULL SMC4 10051 genome.wustl.edu 37 3 160142760 160142760 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001002800.1 +1 validated p.E811K 0.013 164 0% 235 26.8% - - benign(0) tolerated(0.17) neutral(0.059) HMMPfam_SMC_N,superfamily_P-loop containing nucleoside triphosphate hydrolases SPATA16 83893 genome.wustl.edu 37 3 172674605 172674605 + Missense_Mutation SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_031955.5 -1 reviewed p.E315Q 1.000 224 0% 576 29.5% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) superfamily_TPR-like TBL1XR1 79718 genome.wustl.edu 37 3 176744217 176744217 + Missense_Mutation SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_024665.4 -1 reviewed p.E488K 1.000 335 0% 629 56.8% - - possibly_damaging(0.929) deleterious(0) deleterious(0.821) HMMSmart_WD40,superfamily_WD40_like PIK3CA 5290 genome.wustl.edu 37 3 178916728 178916728 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_006218.2 +1 reviewed p.E39K 1.000 134 0% 217 56.2% - - probably_damaging(0.973) tolerated(0.07) deleterious(0.734) HMMPfam_PI3K_p85B,HMMSmart_PI3K_p85B PIK3CA 5290 genome.wustl.edu 37 3 178921520 178921520 + Silent SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_006218.2 +1 reviewed p.L334 1.000 182 0% 260 55.8% - - - - - HMMSmart_C2,HMMSmart_PI3K_C2,superfamily_C2_CaLB RFC4 5984 genome.wustl.edu 37 3 186510335 186510335 + Missense_Mutation SNP G G C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_002916.3 -1 reviewed p.Q207E 1.000 345 0% 435 56.1% - - benign(0.121) tolerated(0.19) neutral(0.059) HMMPfam_AAA,superfamily_SSF52540 LSG1 55341 genome.wustl.edu 37 3 194392810 194392810 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_018385.2 -1 reviewed p.R28C 0.932 30 0% 31 64.5% - - probably_damaging(0.996) tolerated(0.06) deleterious(0.784) NULL MUC4 4585 genome.wustl.edu 37 3 195509980 195509980 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_018406.5 -1 reviewed p.S2696L 0.998 456 0% 386 37.8% - - benign(0.204) - - NULL SH3BP2 6452 genome.wustl.edu 37 4 2831587 2831587 + Silent SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 ENST00000513069 +1 known p.Q22E 0.000 38 0% 18 27.8% - - - - - NULL PSAPL1 768239 genome.wustl.edu 37 4 7435724 7435724 + Missense_Mutation SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001085382.1 -1 validated p.E295K 0.768 43 0% 37 43.2% - - benign(0.106) tolerated(0.08) neutral(0.308) HMMPfam_SapB_1,HMMSmart_SapB,superfamily_Saposin_like CC2D2A 57545 genome.wustl.edu 37 4 15529121 15529121 + Missense_Mutation SNP C C A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001080522.2 +1 reviewed p.P401T 0.574 312 0% 301 34.2% - - benign(0.003) tolerated(0.88) - NULL PROM1 8842 genome.wustl.edu 37 4 16077474 16077474 + Nonsense_Mutation SNP G G C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_006017.2 -1 reviewed p.S19* 0.004 150 0% 122 43.4% - - - - - HMMPfam_Prominin DHX15 1665 genome.wustl.edu 37 4 24577892 24577892 + Missense_Mutation SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001358.2 -1 reviewed p.E161K 1.000 257 0% 274 42.3% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_AAA,HMMSmart_DEXDc,superfamily_SSF52540 PDS5A 23244 genome.wustl.edu 37 4 39846302 39846302 + Silent SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001100399.1 -1 reviewed p.L1174 1.000 294 0% 339 42.8% - - - - - NULL LRRC66 339977 genome.wustl.edu 37 4 52883432 52883432 + Silent SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001024611.1 -1 provisional p.L116 0.924 355 0.3% 358 44.1% - - - - - superfamily_SSF52058 POLR2B 5431 genome.wustl.edu 37 4 57860877 57860877 + Missense_Mutation SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_000938.1 +1 reviewed p.Q141E 1.000 226 0% 227 39.2% - - benign(0) tolerated(1) - HMMPfam_RNA_pol_Rpb2_1,superfamily_beta and beta-prime subunits of DNA dependent RNA-polymerase UBA6 55236 genome.wustl.edu 37 4 68530962 68530962 + Missense_Mutation SNP G G T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_018227.5 -1 validated p.P281Q 1.000 136 0% 204 44.1% - - probably_damaging(0.991) tolerated(0.57) neutral(0.450) superfamily_Activating enzymes of the ubiquitin-like proteins SLC4A4 8671 genome.wustl.edu 37 4 72222736 72222736 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001134742.1 +1 reviewed p.D188N 1.000 136 0% 193 44.6% - - benign(0.008) tolerated(0.12) neutral(0.261) HMMPfam_Band_3_cyto,superfamily_PTrfase/Anion_transptr PTPN13 5783 genome.wustl.edu 37 4 87728966 87728966 + Silent SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_080685.2 +1 reviewed p.V2338 0.990 132 0% 139 45.3% - - - - - HMMPfam_Y_phosphatase,HMMSmart_PTPc,superfamily_SSF52799 SLC10A6 345274 genome.wustl.edu 37 4 87746662 87746662 + Missense_Mutation SNP G G C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_197965.2 -1 validated p.S277C 0.997 123 0% 120 43.3% - - benign(0.418) - - NULL GRID2 2895 genome.wustl.edu 37 4 94690541 94690541 + Silent SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001510.2 +1 validated p.F847 1.000 178 0% 242 38.8% - - - - - HMMPfam_Lig_chan ADH1C 126 genome.wustl.edu 37 4 100260743 100260743 + Missense_Mutation SNP G G C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_000669.3 -1 reviewed p.S365C 0.006 182 0% 274 37.2% - - possibly_damaging(0.87) deleterious(0.01) deleterious(0.744) superfamily_GroES-like TACR3 6870 genome.wustl.edu 37 4 104640578 104640578 + Silent SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001059.1 -1 reviewed p.I85 1.000 106 0% 52 28.8% - - - - - superfamily_SSF81321 TET2 54790 genome.wustl.edu 37 4 106190770 106190770 + Missense_Mutation SNP G G C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001127208.1 +1 validated p.E1350Q 1.000 90 0% 138 32.6% - - possibly_damaging(0.933) tolerated(0.07) deleterious(0.698) NULL PAPSS1 9061 genome.wustl.edu 37 4 108575878 108575878 + Silent SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_005443.4 -1 validated p.T358 0.036 158 0% 256 40.6% - - - - - HMMPfam_ATP-sulfurylase,superfamily_PUA domain-like LEF1 51176 genome.wustl.edu 37 4 109088742 109088742 + Missense_Mutation SNP G G C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_016269.4 -1 reviewed p.S61C 1.000 156 0% 72 36.1% - - probably_damaging(0.962) deleterious(0) deleterious(0.850) HMMPfam_CTNNB1_binding SEC24D 9871 genome.wustl.edu 37 4 119754806 119754806 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_014822.2 -1 reviewed p.Q16* 1.000 201 0.5% 169 36.1% - - - - - NULL TTC29 83894 genome.wustl.edu 37 4 147830187 147830187 + Missense_Mutation SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_031956.2 -1 validated p.E131K 0.907 79 0% 148 35.8% - - benign(0.28) tolerated(0.22) neutral(0.128) superfamily_TPR-like NR3C2 4306 genome.wustl.edu 37 4 149356787 149356787 + Nonsense_Mutation SNP G G C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_000901.4 -1 reviewed p.S409* 0.997 110 0% 123 39% - - - - - NULL FAM160A1 729830 genome.wustl.edu 37 4 152498674 152498674 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001109977.1 +1 predicted p.E60K 1.000 73 0% 162 42.6% - - probably_damaging(0.995) deleterious(0.04) deleterious(0.806) NULL FAM160A1 729830 genome.wustl.edu 37 4 152507892 152507892 + Missense_Mutation SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001109977.1 +1 predicted p.L278V 0.464 91 0% 146 32.2% - - probably_damaging(0.955) tolerated(0.28) neutral(0.430) HMMPfam_RAI16-like RXFP1 59350 genome.wustl.edu 37 4 159573171 159573171 + Silent SNP G G C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_021634.2 +1 provisional p.L746 0.050 171 0% 170 38.8% - - - - - NULL DDX60L 91351 genome.wustl.edu 37 4 169374340 169374340 + Missense_Mutation SNP G G C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001012967.1 -1 validated p.Q311E 0.385 114 0% 134 35.1% - - probably_damaging(0.994) tolerated(0.19) deleterious(0.502) NULL FAT1 2195 genome.wustl.edu 37 4 187521515 187521515 + Splice_Site SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_005245.3 -1 reviewed e21-1 1.000 97 0% 74 45.9% - - - - - - FAT1 2195 genome.wustl.edu 37 4 187629880 187629880 + Missense_Mutation SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_005245.3 -1 reviewed p.E368K 1.000 353 0% 260 42.3% - - probably_damaging(0.992) tolerated(0.09) deleterious(0.744) NULL ZFP42 132625 genome.wustl.edu 37 4 188924718 188924718 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_174900.3 +1 validated p.G253R 1.000 163 0% 110 42.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355 PLEKHG4B 153478 genome.wustl.edu 37 5 144989 144989 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_052909.3 +1 validated p.R264K 0.003 46 0% 17 35.3% - - benign(0.005) tolerated(1) - NULL AHRR 57491 genome.wustl.edu 37 5 428029 428029 + Silent SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_020731.3 +1 reviewed p.P294 0.002 52 0% 21 42.9% - - - - - NULL KIAA0947 23379 genome.wustl.edu 37 5 5462278 5462278 + Missense_Mutation SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_015325.1 +1 validated p.S944L 0.000 84 0% 89 39.3% - - benign(0) tolerated(1) - NULL MARCH11 441061 genome.wustl.edu 37 5 16091163 16091163 + Missense_Mutation SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001102562.1 -1 provisional p.E241Q 1.000 92 0% 127 40.2% - - probably_damaging(0.998) deleterious(0.04) deleterious(0.823) NULL ZFR 51663 genome.wustl.edu 37 5 32420193 32420193 + Silent SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_016107.3 -1 validated p.S51 1.000 63 0% 60 36.7% - - - - - NULL UGT3A2 167127 genome.wustl.edu 37 5 36049090 36049090 + Missense_Mutation SNP G G T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_174914.3 -1 validated p.F248L 0.839 203 0% 303 34% - - benign(0.006) tolerated(1) - HMMPfam_UDPGT,superfamily_SSF53756 SLC1A3 6507 genome.wustl.edu 37 5 36677229 36677229 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_004172.4 +1 reviewed p.R268K 0.562 255 0% 288 41.7% - - benign(0) tolerated(0.13) neutral(0.253) HMMPfam_SDF NIPBL 25836 genome.wustl.edu 37 5 36985857 36985857 + Missense_Mutation SNP G G C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_133433.3 +1 reviewed p.D859H 1.000 62 0% 89 43.8% - - benign(0.351) deleterious(0.03) deleterious(0.475) superfamily_ARM repeat EGFLAM 133584 genome.wustl.edu 37 5 38427212 38427212 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_152403.2 +1 validated p.E638K 1.000 138 0% 199 38.2% - - probably_damaging(0.992) tolerated(0.39) neutral(0.464) HMMSmart_LamG,superfamily_ConA_like_lec_gl HEATR7B2 133558 genome.wustl.edu 37 5 40998731 40998731 + Missense_Mutation SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_173489.4 -1 validated p.R1545T 0.201 133 0% 279 38% - - benign(0.079) tolerated(0.26) neutral(0.040) superfamily_ARM repeat GAPT 202309 genome.wustl.edu 37 5 57790577 57790577 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_152687.2 +1 provisional p.E72K 0.005 62 0% 156 45.5% - - benign(0) tolerated(1) - NULL CENPK 64105 genome.wustl.edu 37 5 64824778 64824778 + Missense_Mutation SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_022145.3 -1 validated p.L146F 0.061 137 0% 155 40.6% - - possibly_damaging(0.81) deleterious(0.04) deleterious(0.654) NULL PPWD1 23398 genome.wustl.edu 37 5 64863428 64863428 + Silent SNP T T C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_015342.2 +1 validated p.H95 1.000 341 0% 246 41.5% - - - - - HMMSmart_WD40,superfamily_WD40_like,HMMPfam_WD40 PIK3R1 5295 genome.wustl.edu 37 5 67591128 67591128 + Missense_Mutation SNP G G C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_181523.1 +1 reviewed p.R574T 1.000 374 0% 441 36.3% - - probably_damaging(0.997) tolerated(0.26) deleterious(0.500) NULL ANKRD31 256006 genome.wustl.edu 37 5 74442997 74442997 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 ENST00000274361 -1 known p.P747S 0.076 474 0% 720 36.4% - - probably_damaging(0.961) deleterious(0.01) deleterious(0.810) superfamily_ANK COL4A3BP 10087 genome.wustl.edu 37 5 74698866 74698866 + Silent SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001130105.1 -1 reviewed p.L444 1.000 274 0% 385 38.4% - - - - - NULL AGGF1 55109 genome.wustl.edu 37 5 76326661 76326661 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_018046.3 +1 validated p.Q24* 1.000 29 0% 14 42.9% - - - - - NULL AP3B1 8546 genome.wustl.edu 37 5 77590340 77590340 + Missense_Mutation SNP G G C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_003664.3 -1 reviewed p.Q22E 0.989 154 0% 75 48% - - benign(0.015) tolerated(1) neutral(0.001) NULL TTC37 9652 genome.wustl.edu 37 5 94800318 94800318 + Nonsense_Mutation SNP G G C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_014639.2 -1 provisional p.S1563* 0.739 357 0% 382 32.7% - - - - - NULL PPIP5K2 23262 genome.wustl.edu 37 5 102509582 102509582 + Missense_Mutation SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_015216.2 +1 provisional p.S812F 1.000 201 0% 490 40% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Acid_phosphat_A,superfamily_SSF53254 APC 324 genome.wustl.edu 37 5 112176929 112176929 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_000038.4 +1 reviewed p.E1880K 1.000 316 0% 368 39.7% - - possibly_damaging(0.692) tolerated(0.22) neutral(0.289) NULL ADAMTS19 171019 genome.wustl.edu 37 5 129072812 129072812 + Silent SNP G G C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_133638.3 +1 reviewed p.V1175 1.000 57 0% 94 35.1% - - - - - HMMPfam_PLAC AFF4 27125 genome.wustl.edu 37 5 132232207 132232207 + Silent SNP G G C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_014423.3 -1 validated p.L705 0.996 363 0% 390 39.5% - - - - - HMMPfam_AF-4 ANKHD1-EIF4EBP3 404734 genome.wustl.edu 37 5 139820719 139820719 + Missense_Mutation SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_020690.4 +1 reviewed p.S302F 1.000 195 0% 237 36.7% - - probably_damaging(0.998) deleterious(0.03) deleterious(0.839) HMMPfam_Ank,superfamily_ANK PCDHA11 56138 genome.wustl.edu 37 5 140249384 140249384 + Silent SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_018902.3 +1 reviewed p.V232 0.752 76 0% 58 44.8% - - - - - HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Cadherin-like PCDHB12 56124 genome.wustl.edu 37 5 140589089 140589089 + Missense_Mutation SNP G G C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_018932.3 +1 reviewed p.E204Q 0.006 322 0% 199 39.7% - - benign(0.155) tolerated(0.38) neutral(0.031) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin PCDHGA8 9708 genome.wustl.edu 37 5 140773889 140773889 + Silent SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_032088.1 +1 reviewed p.S503 0.001 113 0% 58 31% - - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like RNF14 9604 genome.wustl.edu 37 5 141353262 141353262 + Missense_Mutation SNP A A G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_004290.3 +1 reviewed p.R37G 1.000 381 0% 278 40.6% - - possibly_damaging(0.772) tolerated(0.14) deleterious(0.536) HMMPfam_RWD,HMMSmart_SM00591,superfamily_UBC-like RBM27 54439 genome.wustl.edu 37 5 145610219 145610219 + Splice_Site SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_018989.1 +1 validated e6-1 1.000 108 0% 129 43.4% - - - - - - ADRB2 154 genome.wustl.edu 37 5 148207507 148207507 + Silent SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_000024.5 +1 reviewed p.E371 1.000 135 0% 114 45.6% - - - - - NULL PDGFRB 5159 genome.wustl.edu 37 5 149513198 149513198 + Silent SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_002609.3 -1 reviewed p.E295 0.060 163 0% 94 43.6% - - - - - HMMSmart_IGc2,superfamily_SSF48726 ANXA6 309 genome.wustl.edu 37 5 150512098 150512098 + Silent SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001155.3 -1 reviewed p.P225 0.231 102 0% 75 45.3% - - - - - superfamily_Annexin,PatternScan_ANNEXIN,HMMPfam_Annexin,HMMSmart_ANX GABRA1 2554 genome.wustl.edu 37 5 161317966 161317966 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_000806.5 +1 reviewed p.Q256* 1.000 205 0% 228 41.7% - - - - - superfamily_Neu_channel_TM FAF2 23197 genome.wustl.edu 37 5 175926018 175926018 + Missense_Mutation SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_014613.2 +1 reviewed p.R315W 0.995 240 0% 297 10.8% - - possibly_damaging(0.93) deleterious(0) deleterious(0.821) NULL NSD1 64324 genome.wustl.edu 37 5 176562745 176562745 + Missense_Mutation SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_022455.4 +1 reviewed p.T214I 1.000 184 0% 151 43% - - benign(0.014) deleterious(0.01) neutral(0.406) NULL ZFP2 80108 genome.wustl.edu 37 5 178358735 178358735 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_030613.2 +1 provisional p.E141K 0.001 103 0% 118 46.6% - - possibly_damaging(0.614) tolerated(0.2) neutral(0.262) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers CANX 821 genome.wustl.edu 37 5 179143237 179143237 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001024649.1 +1 reviewed p.E285K 1.000 187 0% 185 44.9% - - benign(0.285) tolerated(0.23) neutral(0.129) HMMPfam_Calreticulin,superfamily_Concanavalin A-like lectins/glucanases,superfamily_P-domain of calnexin/calreticulin,PatternScan_CALRETICULIN_REPEAT DSP 1832 genome.wustl.edu 37 6 7582897 7582897 + Nonsense_Mutation SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_004415.2 +1 reviewed p.S1801* 1.000 239 0% 319 59.6% - - - - - superfamily_tRNA-binding arm MUTED 63915 genome.wustl.edu 37 6 8015974 8015974 + Missense_Mutation SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_201280.1 -1 reviewed p.E158K 0.025 483 0% 652 56.7% - - benign(0.273) tolerated(0.08) neutral(0.329) NULL JARID2 3720 genome.wustl.edu 37 6 15497248 15497248 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_004973.2 +1 reviewed p.E598K 1.000 26 0% 28 64.3% - - probably_damaging(1) tolerated(0.08) deleterious(0.800) NULL ATXN1 6310 genome.wustl.edu 37 6 16327437 16327437 + Missense_Mutation SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_000332.3 -1 reviewed p.D369N 1.000 64 0% 35 60% - - benign(0.4) deleterious(0) deleterious(0.573) NULL FAM65B 9750 genome.wustl.edu 37 6 24828518 24828518 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_014722.2 -1 validated p.R859* 0.238 43 0% 85 22.4% - - - - - NULL SLC17A4 10050 genome.wustl.edu 37 6 25773854 25773854 + Silent SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_005495.2 +1 validated p.A313 0.000 211 0.5% 511 27.2% - - - - - HMMPfam_MFS_1,superfamily_MFS general substrate transporter ZNF322 79692 genome.wustl.edu 37 6 26638661 26638661 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_024639.3 -1 validated p.H41Y 1.000 569 0.2% 917 39.9% - - benign(0) deleterious(0.01) neutral(0.406) superfamily_SSF57667 HIST1H2AG 8969 genome.wustl.edu 37 6 27101124 27101124 + Missense_Mutation SNP G G C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_021064.4 +1 reviewed p.E92Q 1.000 205 0% 159 30.8% - - possibly_damaging(0.653) deleterious(0) deleterious(0.674) HMMSmart_SM00414,superfamily_Histone-fold HIST1H2BL 8340 genome.wustl.edu 37 6 27775456 27775456 + Missense_Mutation SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_003519.3 -1 reviewed p.E77K 1.000 309 0.3% 262 35.5% - - benign(0.323) deleterious(0.04) neutral(0.450) HMMSmart_H2B,HMMPfam_Histone,superfamily_Histone-fold ZSCAN12 9753 genome.wustl.edu 37 6 28358391 28358391 + Missense_Mutation SNP C C A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 ENST00000361028 -1 known p.G559V 1.000 413 0% 548 28.3% - - probably_damaging(0.994) deleterious(0) deleterious(0.897) superfamily_SSF57667 HLA-F 3134 genome.wustl.edu 37 6 29693797 29693797 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001098479.1 +1 reviewed p.R338K 0.001 204 0% 201 58.7% - - possibly_damaging(0.516) tolerated(0.09) deleterious(0.470) NULL TEAD3 7005 genome.wustl.edu 37 6 35443411 35443411 + Missense_Mutation SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 ENST00000402886 -1 known p.D265N 0.999 146 0% 129 32.6% - - possibly_damaging(0.455) deleterious(0) deleterious(0.594) HMMPfam_TEA KCTD20 222658 genome.wustl.edu 37 6 36454759 36454759 + Missense_Mutation SNP A A G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_173562.3 +1 provisional p.E356G 1.000 112 0% 158 21.5% - - possibly_damaging(0.842) deleterious(0) deleterious(0.766) NULL FGD2 221472 genome.wustl.edu 37 6 36990114 36990114 + Missense_Mutation SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_173558.3 +1 validated p.R476C 1.000 20 0% 18 77.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_FYVE,HMMSmart_SM00064,superfamily_FYVE/PHD zinc finger MDGA1 266727 genome.wustl.edu 37 6 37622284 37622284 + Missense_Mutation SNP G G C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_153487.3 -1 validated p.L250V 0.925 85 0% 65 29.2% - - benign(0.003) tolerated(0.33) neutral(0.024) HMMSmart_SM00409,superfamily_Immunoglobulin DAAM2 23500 genome.wustl.edu 37 6 39846356 39846356 + Missense_Mutation SNP G G C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_015345.2 +1 validated p.E513Q 1.000 67 0% 57 52.6% - - benign(0.33) tolerated(0.08) neutral(0.403) NULL ABCC10 89845 genome.wustl.edu 37 6 43400370 43400370 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_033450.2 +1 reviewed p.E175K 0.991 17 0% 19 36.8% - - benign(0.361) tolerated(0.49) neutral(0.125) NULL HSP90AB1 3326 genome.wustl.edu 37 6 44219877 44219877 + Nonsense_Mutation SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_007355.2 +1 provisional p.S535* 1.000 210 0% 206 27.7% - - - - - superfamily_Ribosomal protein S5 domain 2-like,HMMPfam_HSP90 PTCHD4 442213 genome.wustl.edu 37 6 47846234 47846234 + Silent SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001013732.3 -1 validated p.F765 1.000 155 0% 389 26% - - - - - HMMPfam_Patched,superfamily_SSF82866 PKHD1 5314 genome.wustl.edu 37 6 51889575 51889575 + Nonsense_Mutation SNP G G C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_138694.3 -1 reviewed p.S1678* 0.872 78 0% 87 71.3% - - - - - superfamily_E set domains BMP5 653 genome.wustl.edu 37 6 55638997 55638997 + Missense_Mutation SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_021073.2 -1 reviewed p.G293R 1.000 290 0% 563 59.1% - - possibly_damaging(0.722) deleterious(0.04) deleterious(0.611) HMMPfam_TGFb_propeptide EYS 346007 genome.wustl.edu 37 6 64472462 64472462 + Missense_Mutation SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001142800.1 -1 reviewed p.E2655Q 1.000 100 0% 354 26.6% - - probably_damaging(0.98) - - HMMSmart_SM00179,HMMPfam_EGF,HMMSmart_SM00181 KCNQ5 56479 genome.wustl.edu 37 6 73843282 73843282 + Missense_Mutation SNP G G C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_019842.3 +1 reviewed p.Q462H 1.000 92 0% 114 36.8% - - probably_damaging(0.997) tolerated(0.13) deleterious(0.719) HMMPfam_KCNQ_channel FILIP1 27145 genome.wustl.edu 37 6 76063259 76063259 + Missense_Mutation SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_015687.2 -1 validated p.E209K 1.000 147 0% 177 54.2% - - probably_damaging(0.99) deleterious(0.01) deleterious(0.847) HMMPfam_CortBP2 MYO6 4646 genome.wustl.edu 37 6 76624709 76624709 + Missense_Mutation SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_004999.3 +1 reviewed p.L1280V 1.000 62 0% 87 25.3% - - unknown(0) deleterious(0.01) - NULL PHIP 55023 genome.wustl.edu 37 6 79675690 79675690 + Missense_Mutation SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_017934.5 -1 validated p.D1097H 1.000 153 0% 297 30.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL UBE3D 90025 genome.wustl.edu 37 6 83763937 83763937 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_198920.1 -1 provisional p.Q99* 1.000 294 0% 490 59.4% - - - - - HMMPfam_DUF2351 PGM3 5238 genome.wustl.edu 37 6 83898457 83898457 + Missense_Mutation SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_015599.1 -1 provisional p.E89K 1.000 239 0% 308 58.8% - - benign(0.001) tolerated(0.91) - HMMPfam_PGM_PMM_I,superfamily_Phosphoglucomutase first 3 domains RARS2 57038 genome.wustl.edu 37 6 88226570 88226570 + Missense_Mutation SNP G G C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_020320.3 -1 reviewed p.Q514E 1.000 214 0% 425 29.2% - - benign(0.001) tolerated(0.18) neutral(0.056) HMMPfam_DALR_1,superfamily_Anticodon-binding domain of a subclass of class I aminoacyl-tRNA synthetases ANKRD6 22881 genome.wustl.edu 37 6 90276796 90276796 + Missense_Mutation SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_014942.3 +1 validated p.A34V 1.000 64 0% 141 60.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat MDN1 23195 genome.wustl.edu 37 6 90353886 90353886 + Silent SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_014611.1 -1 provisional p.P5543 0.718 261 0% 341 25.2% - - - - - HMMSmart_SM00327,superfamily_vWA-like SMPDL3A 10924 genome.wustl.edu 37 6 123124825 123124825 + Missense_Mutation SNP G G C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_006714.3 +1 validated p.Q195H 1.000 313 0% 526 67.7% - - probably_damaging(0.991) deleterious(0.01) deleterious(0.850) HMMPfam_Metallophos,superfamily_SSF56300 RNF217 154214 genome.wustl.edu 37 6 125366447 125366447 + Missense_Mutation SNP G G C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_152553.2 +1 provisional p.E33Q 1.000 80 0% 240 61.3% - - possibly_damaging(0.515) tolerated(0.23) neutral(0.215) NULL L3MBTL3 84456 genome.wustl.edu 37 6 130454764 130454764 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_032438.1 +1 validated p.E712K 1.000 58 0% 150 68.7% - - probably_damaging(0.995) deleterious(0.01) deleterious(0.863) HMMPfam_SAM_1,HMMSmart_SM00454,superfamily_SAM/Pointed domain HBS1L 10767 genome.wustl.edu 37 6 135318578 135318578 + Missense_Mutation SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_006620.3 -1 reviewed p.E252D 1.000 123 0% 225 64% - - benign(0.194) tolerated(0.13) neutral(0.271) NULL AHI1 54806 genome.wustl.edu 37 6 135768164 135768164 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001134830.1 -1 reviewed p.W587* 1.000 227 0% 498 19.7% - - - - - superfamily_WD40 repeat-like PHACTR2 9749 genome.wustl.edu 37 6 144104370 144104370 + Missense_Mutation SNP G G C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001100164.1 +1 validated p.E554Q 1.000 139 0% 335 20% - - probably_damaging(0.998) deleterious(0.02) deleterious(0.857) NULL EZR 7430 genome.wustl.edu 37 6 159191897 159191897 + Missense_Mutation SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001111077.1 -1 reviewed p.R330T 0.994 141 0% 155 19.4% - - possibly_damaging(0.702) deleterious(0) deleterious(0.697) superfamily_SSF50729 MLLT4 4301 genome.wustl.edu 37 6 168299118 168299118 + Silent SNP G G C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 ENST00000423229 +1 known p.D216H 0.868 84 0% 104 19.2% - - - - - NULL MICALL2 79778 genome.wustl.edu 37 7 1481911 1481911 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_182924.3 -1 validated p.S543L 0.000 99 0% 48 41.7% - - possibly_damaging(0.484) deleterious(0.01) deleterious(0.566) NULL CARD11 84433 genome.wustl.edu 37 7 2977609 2977609 + Missense_Mutation SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_032415.3 -1 validated p.E359K 1.000 105 0% 64 43.8% - - benign(0.211) tolerated(0.26) neutral(0.055) NULL SDK1 221935 genome.wustl.edu 37 7 4014013 4014013 + Silent SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_152744.3 +1 validated p.K610 1.000 138 0% 92 39.1% - - - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin NPSR1 387129 genome.wustl.edu 37 7 34889200 34889200 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_207172.1 +1 reviewed p.R350K 0.996 212 0% 187 38% - - benign(0.252) tolerated(0.38) neutral(0.043) superfamily_Family A G protein-coupled receptor-like ELMO1 9844 genome.wustl.edu 37 7 36901341 36901341 + Missense_Mutation SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_014800.9 -1 reviewed p.E636K 1.000 123 0% 185 34.6% - - possibly_damaging(0.647) tolerated(0.48) neutral(0.238) superfamily_PH domain-like YAE1D1 57002 genome.wustl.edu 37 7 39611987 39611987 + Silent SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_020192.3 +1 validated p.L121 0.373 248 0% 275 36% - - - - - NULL TNS3 64759 genome.wustl.edu 37 7 47408367 47408367 + Missense_Mutation SNP G G C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_022748.10 -1 validated p.Q626E 0.434 34 0% 18 44.4% - - benign(0.014) tolerated(1) neutral(0.001) NULL DDC 1644 genome.wustl.edu 37 7 50611697 50611697 + Silent SNP G G C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_000790.3 -1 reviewed p.V29 0.765 147 0% 109 46.8% - - - - - superfamily_PLP-dependent transferases POM121L12 285877 genome.wustl.edu 37 7 53104225 53104225 + Silent SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_182595.3 +1 validated p.V287 0.000 21 0% 13 38.5% - - - - - NULL ZNF679 168417 genome.wustl.edu 37 7 63726332 63726332 + Silent SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_153363.2 +1 validated p.L107 0.138 141 0% 336 36.9% - - - - - NULL POM121 9883 genome.wustl.edu 37 7 72413744 72413744 + Missense_Mutation SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_172020.1 +1 reviewed p.S806C 0.989 49 0% 23 47.8% - - unknown(0) deleterious(0.02) - NULL MAGI2 9863 genome.wustl.edu 37 7 77649243 77649243 + Missense_Mutation SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_012301.3 -1 reviewed p.E1253Q 1.000 77 0% 47 42.6% - - possibly_damaging(0.482) deleterious(0.04) deleterious(0.509) NULL STEAP1 26872 genome.wustl.edu 37 7 89793934 89793934 + Silent SNP G G C rs182931664 by1000genomes TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_012449.2 +1 reviewed p.L302 0.995 176 0% 167 44.3% - - - - - NULL AKAP9 10142 genome.wustl.edu 37 7 91699347 91699347 + Missense_Mutation SNP G G C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_005751.4 +1 reviewed p.E2112Q 1.000 98 0% 136 40.4% - - probably_damaging(0.996) deleterious(0.04) deleterious(0.810) NULL TRRAP 8295 genome.wustl.edu 37 7 98524797 98524797 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_003496.2 +1 validated p.E995K 1.000 110 0% 90 42.2% - - benign(0.378) deleterious(0.05) neutral(0.466) superfamily_ARM repeat TRRAP 8295 genome.wustl.edu 37 7 98579409 98579409 + Silent SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 ENST00000456197 +1 known p.R2599Q 0.003 39 0% 17 52.9% - - - - - HMMPfam_FAT,superfamily_ARM repeat,superfamily_Protein prenylyltransferase TRRAP 8295 genome.wustl.edu 37 7 98601946 98601946 + Silent SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 ENST00000456197 +1 known p.S3196F 0.998 196 0% 146 38.4% - - - - - superfamily_Protein kinase-like (PK-like),superfamily_ARM repeat C7orf43 55262 genome.wustl.edu 37 7 99753018 99753018 + Missense_Mutation SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_018275.3 -1 predicted p.E486K 0.995 85 0% 47 42.6% - - benign(0.139) tolerated(0.12) neutral(0.273) NULL SPDYE3 441272 genome.wustl.edu 37 7 99917323 99917323 + Silent SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001004351.4 +1 validated p.P117 0.001 256 0.4% 237 37.1% - - - - - NULL MUC17 140453 genome.wustl.edu 37 7 100681635 100681635 + Missense_Mutation SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001040105.1 +1 provisional p.S2313C 0.148 200 0% 312 33.3% - - unknown(0) - - NULL RELN 5649 genome.wustl.edu 37 7 103163881 103163881 + Missense_Mutation SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_005045.3 -1 reviewed p.D2483H 1.000 178 0% 155 45.8% - - probably_damaging(1) tolerated(0.1) deleterious(0.786) HMMPfam_EGF_2 PIK3CG 5294 genome.wustl.edu 37 7 106545575 106545575 + Missense_Mutation SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_002649.2 +1 reviewed p.L1018V 0.920 126 0% 211 44.5% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_PI3_PI4_kinase,HMMSmart_SM00146,superfamily_Protein kinase-like (PK-like) NRCAM 4897 genome.wustl.edu 37 7 107866697 107866697 + Missense_Mutation SNP G G C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001037132.1 -1 reviewed p.Q226E 1.000 156 0% 242 42.6% - - possibly_damaging(0.895) tolerated(0.06) deleterious(0.675) HMMSmart_SM00409,superfamily_Immunoglobulin MET 4233 genome.wustl.edu 37 7 116339637 116339637 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001127500.1 +1 reviewed p.E167K 0.988 77 0% 105 40% - - probably_damaging(0.987) deleterious(0.04) deleterious(0.785) HMMPfam_Sema,HMMSmart_Sema,superfamily_Sema PAX4 5078 genome.wustl.edu 37 7 127251629 127251629 + Missense_Mutation SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 ENST00000338516 -1 known p.E273K 0.579 87 0% 48 41.7% - - unknown(0) deleterious(0) - NULL CPA5 93979 genome.wustl.edu 37 7 129999462 129999462 + Silent SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001127441.1 +1 validated p.A122 0.000 98 0% 64 34.4% - - - - - superfamily_Protease propeptides/inhibitors CHRM2 1129 genome.wustl.edu 37 7 136699941 136699941 + Missense_Mutation SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_000739.2 +1 reviewed p.S110L 1.000 62 0% 177 36.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like TTC26 79989 genome.wustl.edu 37 7 138819475 138819475 + Missense_Mutation SNP G G C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_024926.2 +1 validated p.K26N 1.000 173 0% 132 42.4% - - possibly_damaging(0.687) tolerated(0.14) deleterious(0.495) NULL KCNH2 3757 genome.wustl.edu 37 7 150654433 150654433 + Missense_Mutation SNP G G C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_000238.2 -1 reviewed p.I358M 1.000 238 0% 94 39.4% - - probably_damaging(0.995) deleterious(0.01) deleterious(0.863) NULL PTPRN2 5799 genome.wustl.edu 37 7 157959893 157959893 + Missense_Mutation SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_002847.3 -1 reviewed p.E214K 0.003 48 0% 20 35% - - benign(0.31) deleterious(0.01) deleterious(0.502) NULL CSMD1 64478 genome.wustl.edu 37 8 3432488 3432488 + Silent SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_033225.5 -1 validated p.I442 1.000 94 0% 123 53.7% - - - - - HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain LPL 4023 genome.wustl.edu 37 8 19813579 19813579 + Missense_Mutation SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 ENST00000311322 +1 known p.Q335E 0.964 78 0% 130 26.2% - - - - - HMMPfam_Lipase,superfamily_alpha/beta-Hydrolases BMP1 649 genome.wustl.edu 37 8 22052339 22052339 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_006129.4 +1 reviewed p.D516N 0.996 61 0% 42 59.5% - - benign(0.028) tolerated(0.24) neutral(0.039) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain TNFRSF10C 8794 genome.wustl.edu 37 8 22960622 22960622 + Silent SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 ENST00000356864 +1 known p.V36 0.286 60 0% 49 61.2% - - - - - NULL NEFM 4741 genome.wustl.edu 37 8 24775902 24775902 + Missense_Mutation SNP G G A rs188421098 by1000genomes TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_005382.2 +1 reviewed p.G845D 0.044 181 0.6% 220 31.8% - - benign(0.169) tolerated(0.2) neutral(0.065) NULL STMN4 81551 genome.wustl.edu 37 8 27097667 27097667 + Missense_Mutation SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_030795.2 -1 provisional p.E138K 0.998 495 0.2% 503 30.2% - - probably_damaging(1) tolerated(0.08) deleterious(0.800) HMMPfam_Stathmin,superfamily_Stathmin LOC100287332 100287332 genome.wustl.edu 37 8 27690646 27690646 + Silent SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 XM_002342841.1 +1 model p.L84 0.010 659 0% 826 57.3% - - - - - NULL NRG1 3084 genome.wustl.edu 37 8 32614006 32614006 + Missense_Mutation SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_013956.3 +1 reviewed p.H302Y 1.000 124 0% 226 60.6% - - probably_damaging(0.975) deleterious(0.02) deleterious(0.800) HMMPfam_Neuregulin ANK1 286 genome.wustl.edu 37 8 41542069 41542069 + Silent SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001142446.1 -1 reviewed p.Q1551 1.000 53 0% 38 26.3% - - - - - NULL ENSG00000215179 0 genome.wustl.edu 37 8 47885285 47885285 + Missense_Mutation SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 ENST00000399732 -1 known p.E316Q 1.000 249 0% 434 50.9% - - - - - superfamily_Protein kinase-like (PK-like) PRKDC 5591 genome.wustl.edu 37 8 48740760 48740760 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 ENST00000314191 -1 known p.S2848F 0.000 458 0% 601 28.6% - - benign(0.258) tolerated(0.7) neutral(0.029) superfamily_ARM repeat PRKDC 5591 genome.wustl.edu 37 8 48855894 48855894 + Missense_Mutation SNP G G C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 ENST00000314191 -1 known p.Q281E 1.000 192 0% 270 58.1% - - probably_damaging(0.997) deleterious(0) deleterious(0.911) superfamily_ARM repeat ST18 9705 genome.wustl.edu 37 8 53092811 53092811 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_014682.2 -1 validated p.P50S 0.999 321 0% 463 57.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL RP1 6101 genome.wustl.edu 37 8 55538745 55538745 + Missense_Mutation SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_006269.1 +1 reviewed p.S768C 0.000 71 0% 79 53.2% - - probably_damaging(0.954) deleterious(0) deleterious(0.842) NULL PDE7A 5150 genome.wustl.edu 37 8 66639126 66639126 + Silent SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_002603.2 -1 validated p.L276 0.916 105 0% 218 23.4% - - - - - HMMPfam_PDEase_I,HMMSmart_HDc,superfamily_SSF109604 ZFHX4 79776 genome.wustl.edu 37 8 77765335 77765335 + Missense_Mutation SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_024721.4 +1 validated p.P2015S 0.129 24 0% 25 52% - - possibly_damaging(0.49) - - NULL CNGB3 54714 genome.wustl.edu 37 8 87588110 87588110 + Silent SNP G G C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_019098.4 -1 reviewed p.L784 0.997 400 0% 607 52.9% - - - - - NULL STK3 6788 genome.wustl.edu 37 8 99560386 99560386 + Missense_Mutation SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_006281.2 -1 validated p.E318K 1.000 104 0% 294 24.1% - - probably_damaging(0.994) tolerated(0.14) deleterious(0.702) NULL VPS13B 157680 genome.wustl.edu 37 8 100711838 100711838 + Missense_Mutation SNP G G C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_017890.3 +1 reviewed p.K2069N 1.000 175 0% 279 29.4% - - possibly_damaging(0.697) tolerated(0.07) deleterious(0.569) NULL ZHX2 22882 genome.wustl.edu 37 8 123964207 123964207 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_014943.3 +1 reviewed p.E153K 1.000 133 0% 162 30.9% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL RNF139 11236 genome.wustl.edu 37 8 125499283 125499283 + Missense_Mutation SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_007218.3 +1 reviewed p.R465C 1.000 188 0% 292 51.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL KCNQ3 3786 genome.wustl.edu 37 8 133141841 133141841 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_004519.2 -1 reviewed p.Q763* 0.997 53 0% 47 57.4% - - - - - NULL TRAPPC9 83696 genome.wustl.edu 37 8 141263009 141263009 + Missense_Mutation SNP G G C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_031466.5 -1 reviewed p.F864L 0.997 70 0% 104 29.8% - - probably_damaging(0.973) tolerated(0.36) neutral(0.435) HMMPfam_Trs120 ZNF16 7564 genome.wustl.edu 37 8 146156997 146156997 + Silent SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001029976.2 -1 reviewed p.L392 0.240 142 0% 211 48.8% - - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers DOCK8 81704 genome.wustl.edu 37 9 325675 325675 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_203447.3 +1 reviewed p.E210K 1.000 243 0% 332 43.1% - - probably_damaging(0.987) tolerated(0.09) deleterious(0.733) NULL DENND4C 55667 genome.wustl.edu 37 9 19336292 19336292 + Missense_Mutation SNP A A G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_017925.4 +1 provisional p.S636G 1.000 183 0% 200 45.5% - - possibly_damaging(0.904) deleterious(0.01) deleterious(0.764) NULL RPS6 6194 genome.wustl.edu 37 9 19376499 19376499 + Missense_Mutation SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001010.2 -1 reviewed p.R216K 1.000 259 0% 218 43.6% - - probably_damaging(0.999) deleterious(0.05) deleterious(0.836) NULL TEK 7010 genome.wustl.edu 37 9 27197390 27197390 + Missense_Mutation SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_000459.3 +1 reviewed p.P568A 0.949 77 0% 160 41.2% - - benign(0) deleterious(0.01) neutral(0.406) HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like TAF1L 138474 genome.wustl.edu 37 9 32632026 32632026 + Silent SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_153809.2 -1 provisional p.L1184 1.000 301 0.3% 351 42.2% - - - - - NULL SPAG8 26206 genome.wustl.edu 37 9 35811200 35811200 + Silent SNP G G C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 ENST00000497810 -1 known p.S279C 1.000 208 0% 131 37.4% - - - - - NULL GNE 10020 genome.wustl.edu 37 9 36227404 36227404 + Silent SNP G G C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001128227.1 -1 reviewed p.L405 1.000 116 0% 153 38.6% - - - - - HMMPfam_Epimerase_2,superfamily_SSF53756 POLR1E 64425 genome.wustl.edu 37 9 37495267 37495267 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_022490.1 +1 provisional p.E217K 1.000 206 0% 193 36.8% - - possibly_damaging(0.822) tolerated(0.21) neutral(0.355) HMMPfam_RNA_pol_I_A49 C9orf85 138241 genome.wustl.edu 37 9 74561940 74561940 + Missense_Mutation SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_182505.3 +1 validated p.H41Y 1.000 224 0% 294 42.5% - - probably_damaging(0.963) tolerated(1) neutral(0.406) HMMPfam_DUF2039 C9orf85 138241 genome.wustl.edu 37 9 74562019 74562019 + Missense_Mutation SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_182505.3 +1 validated p.P67R 1.000 228 0% 334 40.1% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_DUF2039 VPS13A 23230 genome.wustl.edu 37 9 79931247 79931247 + Missense_Mutation SNP G G C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_033305.2 +1 reviewed p.M1596I 1.000 84 0% 137 38% - - benign(0.004) tolerated(0.69) neutral(0.002) NULL ZCCHC6 79670 genome.wustl.edu 37 9 88940283 88940283 + Silent SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_024617.3 -1 validated p.L585 0.841 197 0% 242 41.3% - - - - - HMMPfam_PAP_assoc,superfamily_PAP/OAS1 substrate-binding domain C9orf79 286234 genome.wustl.edu 37 9 90500924 90500924 + Missense_Mutation SNP C C A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_178828.4 +1 validated p.P508T 0.000 52 0% 33 54.5% - - benign(0.405) tolerated(0.79) neutral(0.132) NULL FAM75C1 441452 genome.wustl.edu 37 9 90537410 90537410 + Missense_Mutation SNP G G A rs139477866 by1000genomes TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001145124.1 +1 validated p.S863N 0.002 181 0% 128 39.1% - - - - - NULL NOL8 55035 genome.wustl.edu 37 9 95086473 95086473 + RNA SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NR_024020.1 -1 validated NULL 0.000 278 0% 206 44.2% - - - - - - C9orf174 100499483 genome.wustl.edu 37 9 100071855 100071855 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_020893.1 +1 predicted p.D260N 0.027 38 0% 32 31.2% - - probably_damaging(0.965) deleterious(0) deleterious(0.851) NULL ZNF483 158399 genome.wustl.edu 37 9 114304906 114304906 + Missense_Mutation SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_133464.2 +1 validated p.S564L 0.543 74 0% 132 50.8% - - probably_damaging(0.982) deleterious(0.01) deleterious(0.832) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 OR1J1 347168 genome.wustl.edu 37 9 125240074 125240074 + Silent SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001004451.1 -1 provisional p.L44 1.000 204 0.5% 206 51% - - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like DOLK 22845 genome.wustl.edu 37 9 131708812 131708812 + Silent SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_014908.3 -1 reviewed p.I257 0.997 88 0% 72 40.3% - - - - - NULL ENSG00000249728 0 genome.wustl.edu 37 9 133346609 133346609 + RNA SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 ENST00000503205 -1 novel NULL 0.001 9 0.000 10 0.400 - - - - - - COL5A1 1289 genome.wustl.edu 37 9 137582839 137582839 + Missense_Mutation SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_000093.3 +1 reviewed p.T64M 0.000 82 0% 46 45.7% - - unknown(0) tolerated(0.17) - HMMSmart_TSPN,superfamily_ConA_like_lec_gl SDCCAG3 10807 genome.wustl.edu 37 9 139304662 139304662 + Missense_Mutation SNP G G C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001039707.1 -1 validated p.L34V 1.000 50 0% 14 50% - - possibly_damaging(0.892) deleterious(0) deleterious(0.796) NULL C9orf139 401563 genome.wustl.edu 37 9 139927565 139927565 + Nonsense_Mutation SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_207511.1 +1 predicted p.S17* 0.001 122 0% 57 36.8% - - - - - NULL USP6NL 9712 genome.wustl.edu 37 10 11504940 11504940 + Missense_Mutation SNP G G C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001080491.2 -1 validated p.Q680E 0.024 94 0% 82 58.5% - - benign(0.049) tolerated(0.21) neutral(0.047) NULL NEBL 10529 genome.wustl.edu 37 10 21098758 21098758 + Missense_Mutation SNP G G C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_006393.2 -1 reviewed p.S863C 1.000 147 0% 311 58.5% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL KIAA1217 56243 genome.wustl.edu 37 10 24832015 24832015 + Silent SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_019590.3 +1 validated p.G1272 0.006 49 0% 93 52.7% - - - - - NULL MYO3A 53904 genome.wustl.edu 37 10 26463291 26463291 + Silent SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_017433.4 +1 reviewed p.L1366 0.000 215 0% 326 58.6% - - - - - HMMPfam_IQ,HMMSmart_IQ,superfamily_SSF52540 ANKRD26 22852 genome.wustl.edu 37 10 27337902 27337902 + Missense_Mutation SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_014915.2 -1 validated p.E548K 0.509 438 0% 780 51.8% - - unknown(0) deleterious(0) - NULL TMEM72 643236 genome.wustl.edu 37 10 45430156 45430156 + Silent SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001123376.1 +1 provisional p.K134 1.000 48 0% 51 33.3% - - - - - NULL ALOX5 240 genome.wustl.edu 37 10 45941075 45941075 + Silent SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_000698.2 +1 reviewed p.K655 0.762 40 0% 45 37.8% - - - - - HMMPfam_Lipoxygenase,superfamily_Lipoxygenase WDFY4 57705 genome.wustl.edu 37 10 50190623 50190623 + Missense_Mutation SNP A A C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 ENST00000426033 +1 known p.K3116T 0.000 78 0% 73 20.5% - - unknown(0) tolerated(0.18) - PatternScan_SUGAR_TRANSPORT_2 C10orf71 118461 genome.wustl.edu 37 10 50531050 50531050 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001135196.1 +1 validated p.E154K 0.347 95 0% 81 22.2% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL ANK3 288 genome.wustl.edu 37 10 61973180 61973180 + Nonsense_Mutation SNP G G C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_020987.2 -1 reviewed p.S329* 1.000 156 0% 312 50.6% - - - - - HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK HKDC1 80201 genome.wustl.edu 37 10 71020981 71020981 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_025130.3 +1 validated p.R768Q 1.000 79 0% 101 60.4% - - probably_damaging(1) tolerated(0.18) deleterious(0.556) HMMPfam_Hexokinase_2,superfamily_Actin-like ATPase domain HK1 3098 genome.wustl.edu 37 10 71119666 71119666 + Silent SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_033497.2 +1 reviewed p.F84 1.000 176 0% 231 29.4% - - - - - HMMPfam_Hexokinase_1,superfamily_SSF53067 PTEN 5728 genome.wustl.edu 37 10 89692904 89692904 + Nonsense_Mutation SNP C C T rs121909224 byCluster TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 ENST00000371953 +1 known p.R130* 1.000 253 0% 460 28% - - - - - HMMPfam_DSPc,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1,superfamily_(Phosphotyrosine protein) phosphatases II PTEN 5728 genome.wustl.edu 37 10 89725043 89725043 + Splice_Site SNP G G T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 ENST00000371953 +1 known e9-1 1.000 126 0.8% 230 53% - - - - - - C10orf129 142827 genome.wustl.edu 37 10 96971777 96971777 + Missense_Mutation SNP G G C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_207321.2 +1 validated p.E300Q 0.929 209 0% 427 28.3% - - benign(0.081) tolerated(0.52) neutral(0.015) HMMPfam_AMP-binding,superfamily_Acetyl-CoA synthetase-like ZNF518A 9849 genome.wustl.edu 37 10 97920007 97920007 + Missense_Mutation SNP G G C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 ENST00000371192 +1 known p.E1310Q 0.066 129 0% 243 25.5% - - - - - NULL C10orf62 414157 genome.wustl.edu 37 10 99350168 99350168 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001009997.2 +1 validated p.E172K 0.962 42 0% 34 61.8% - - probably_damaging(0.967) deleterious(0) deleterious(0.853) NULL CRTAC1 55118 genome.wustl.edu 37 10 99656694 99656694 + Silent SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_018058.4 -1 validated p.D396 0.113 29 0% 21 61.9% - - - - - NULL WDR96 80217 genome.wustl.edu 37 10 105947223 105947223 + Missense_Mutation SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_025145.5 -1 provisional p.G572E 1.000 199 0% 291 52.2% - - probably_damaging(1) tolerated(0.06) deleterious(0.823) superfamily_WD40 repeat-like PPAPDC1A 196051 genome.wustl.edu 37 10 122334704 122334704 + Silent SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001030059.1 +1 validated p.T169 0.001 87 0% 91 61.5% - - - - - HMMPfam_PAP2,HMMSmart_SM00014,superfamily_Acid phosphatase/Vanadium-dependent haloperoxidase C10orf120 399814 genome.wustl.edu 37 10 124457516 124457516 + Missense_Mutation SNP G G C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001010912.1 -1 predicted p.F247L 1.000 380 0% 494 35.4% - - probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL C10orf88 80007 genome.wustl.edu 37 10 124711535 124711535 + Missense_Mutation SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_024942.3 -1 validated p.E126Q 0.983 322 0% 454 24% - - possibly_damaging(0.915) deleterious(0) deleterious(0.811) NULL CTBP2 1488 genome.wustl.edu 37 10 126686669 126686669 + Silent SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_022802.2 -1 reviewed p.L683 0.997 56 0% 30 66.7% - - - - - HMMPfam_2-Hacid_dh,HMMPfam_2-Hacid_dh_C,superfamily_NAD(P)-bd,superfamily_SSF52283 DOCK1 1793 genome.wustl.edu 37 10 129141972 129141972 + Silent SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 ENST00000398025 +1 known p.E1107 1.000 355 0.3% 384 32.8% - - - - - NULL PTPRE 5791 genome.wustl.edu 37 10 129859202 129859202 + Splice_Site SNP G G C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_006504.4 +1 reviewed e6-1 1.000 619 0% 635 27.1% - - - - - - LRRC27 80313 genome.wustl.edu 37 10 134151108 134151108 + Missense_Mutation SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001143757.1 +1 validated p.Q84E 0.000 255 0% 275 50.5% - - benign(0.005) tolerated(1) - HMMPfam_LRR_1,HMMSmart_SM00369,superfamily_L domain-like KNDC1 85442 genome.wustl.edu 37 10 135000140 135000140 + Missense_Mutation SNP G G C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_152643.6 +1 validated p.E430Q 0.008 19 0% 19 42.1% - - benign(0.083) tolerated(0.23) neutral(0.048) NULL CHID1 66005 genome.wustl.edu 37 11 902250 902250 + Missense_Mutation SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001142676.1 -1 validated p.K139N 0.998 108 0% 59 42.4% - - probably_damaging(0.957) tolerated(0.06) deleterious(0.723) HMMSmart_Glyco_18,superfamily_Glyco_hydro_cat OR52M1 119772 genome.wustl.edu 37 11 4566757 4566757 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001004137.1 +1 validated p.E113K 0.600 145 0% 179 39.7% - - possibly_damaging(0.79) deleterious(0) deleterious(0.741) HMMPfam_7tm_1,superfamily_SSF81321 TRIM34 53840 genome.wustl.edu 37 11 5662457 5662457 + Nonstop_Mutation SNP T T C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_130390.2 +1 reviewed p.*271Q 0.001 556 0% 576 27.4% - - - - - NULL OR56A5 390084 genome.wustl.edu 37 11 5989439 5989439 + Missense_Mutation SNP T T G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 XM_002343047.1 -1 model p.S96R 0.476 195 0% 190 32.1% - - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR52L1 338751 genome.wustl.edu 37 11 6007406 6007406 + Missense_Mutation SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001005173.2 -1 validated p.R252Q 0.612 215 0% 246 41.9% - - benign(0.067) tolerated(0.11) neutral(0.276) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like CNGA4 1262 genome.wustl.edu 37 11 6262793 6262793 + Silent SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001037329.2 +1 validated p.Q350 1.000 71 0% 44 43.2% - - - - - HMMSmart_SM00100,superfamily_cAMP-binding domain-like DNHD1 144132 genome.wustl.edu 37 11 6567090 6567090 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_144666.2 +1 provisional p.D1641N 1.000 146 0% 113 44.2% - - possibly_damaging(0.616) tolerated(1) neutral(0.214) superfamily_P-loop containing nucleoside triphosphate hydrolases DNHD1 144132 genome.wustl.edu 37 11 6568382 6568382 + Missense_Mutation SNP G G C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_144666.2 +1 provisional p.K2071N 0.000 140 0% 79 32.9% - - possibly_damaging(0.482) tolerated(0.13) neutral(0.412) superfamily_P-loop containing nucleoside triphosphate hydrolases ILK 3611 genome.wustl.edu 37 11 6631058 6631058 + Silent SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001014794.1 +1 reviewed p.L320 1.000 118 0% 72 43.1% - - - - - HMMPfam_Pkinase_Tyr,superfamily_Kinase_like TPP1 1200 genome.wustl.edu 37 11 6637639 6637639 + Missense_Mutation SNP C C A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_000391.3 -1 reviewed p.D328Y 1.000 102 0% 55 36.4% - - probably_damaging(0.98) deleterious(0.04) deleterious(0.773) superfamily_Subtilisin-like OR10A3 26496 genome.wustl.edu 37 11 7960542 7960542 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001003745.1 -1 provisional p.H176Y 0.215 85 0% 129 51.9% - - probably_damaging(0.996) tolerated(0.08) deleterious(0.762) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like STK33 65975 genome.wustl.edu 37 11 8494810 8494810 + Nonsense_Mutation SNP G G C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_030906.2 -1 validated p.S80* 0.003 212 0% 259 41.3% - - - - - NULL ST5 6764 genome.wustl.edu 37 11 8729400 8729400 + Missense_Mutation SNP G G C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_005418.3 -1 reviewed p.P785R 1.000 69 0% 40 32.5% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL ZBED5 58486 genome.wustl.edu 37 11 10875172 10875172 + Missense_Mutation SNP G G C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001143667.1 -1 reviewed p.L441V 1.000 143 0% 140 41.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL TPH1 7166 genome.wustl.edu 37 11 18054861 18054861 + Missense_Mutation SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_004179.2 -1 reviewed p.R121T 1.000 169 0% 181 40.9% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Biopterin_H,superfamily_Aromatic aminoacid monoxygenases catalytic and oligomerization domains PTPN5 84867 genome.wustl.edu 37 11 18751411 18751411 + Silent SNP C C A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 ENST00000396166 -1 known p.L34 0.000 63 0% 19 42.1% - - - - - HMMSmart_PTPc LGR4 55366 genome.wustl.edu 37 11 27389593 27389593 + Missense_Mutation SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_018490.2 -1 validated p.E893Q 1.000 42 0% 38 50% - - benign(0.095) tolerated(0.07) neutral(0.326) NULL QSER1 79832 genome.wustl.edu 37 11 32975573 32975573 + Missense_Mutation SNP G G C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001076786.1 +1 provisional p.D1321H 1.000 274 0% 340 41.2% - - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL ZNF408 79797 genome.wustl.edu 37 11 46725912 46725912 + Missense_Mutation SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_024741.2 +1 validated p.S221F 0.000 53 0% 54 44.4% - - benign(0.031) deleterious(0) neutral(0.446) NULL OR4C45 403257 genome.wustl.edu 37 11 48373753 48373753 + Missense_Mutation SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 ENST00000415304 -1 known p.E83K 0.074 217 0% 311 24.1% - - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like ENSG00000166007 0 genome.wustl.edu 37 11 55062037 55062038 + In_Frame_Ins INS - - TGAGTA novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 ENST00000309470 -1 known p.229in_frame_insIL 0.033:0.033 - - - - - - - - - NULL OR8H2 390151 genome.wustl.edu 37 11 55873223 55873223 + Silent SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001005200.1 +1 provisional p.Q235 0.000 337 0% 432 43.3% - - - - - HMMPfam_7tm_1,superfamily_SSF81321 APLNR 187 genome.wustl.edu 37 11 57004288 57004288 + Missense_Mutation SNP G G T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_005161.4 -1 reviewed p.A64D 0.979 66 0% 31 29% - - probably_damaging(0.962) deleterious(0) deleterious(0.850) HMMPfam_7tm_1,superfamily_SSF81321 SSRP1 6749 genome.wustl.edu 37 11 57100998 57100998 + Missense_Mutation SNP G G C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_003146.2 -1 reviewed p.S86C 1.000 401 0% 294 41.8% - - possibly_damaging(0.705) tolerated(0.07) deleterious(0.573) NULL OR5B21 219968 genome.wustl.edu 37 11 58275118 58275118 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001005218.1 -1 provisional p.A154V 0.993 65 0% 122 41.8% - - benign(0.044) deleterious(0.02) neutral(0.386) HMMPfam_7tm_1,superfamily_SSF81321 OR4D6 219983 genome.wustl.edu 37 11 59225222 59225222 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001004708.1 +1 provisional p.M263I 0.000 86 0% 94 36.2% - - benign(0) tolerated(0.08) neutral(0.300) HMMPfam_7tm_1,superfamily_SSF81321 MS4A2 2206 genome.wustl.edu 37 11 59856248 59856248 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_000139.3 +1 reviewed p.E4K 0.000 188 0% 196 39.3% - - benign(0.224) - - NULL ENSG00000251217 0 genome.wustl.edu 37 11 60784854 60784854 + RNA SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 ENST00000505761 -1 known NULL 0.000 46 0% 24 54.2% - - - - - - INCENP 3619 genome.wustl.edu 37 11 61906460 61906460 + Missense_Mutation SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001040694.1 +1 validated p.P425L 0.084 100 0% 45 37.8% - - benign(0.104) tolerated(0.3) neutral(0.037) NULL AHNAK 79026 genome.wustl.edu 37 11 62287041 62287041 + Missense_Mutation SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001620.1 -1 validated p.E4950Q 0.998 114 0% 95 33.7% - - probably_damaging(0.994) tolerated(0.26) deleterious(0.486) NULL MTA2 9219 genome.wustl.edu 37 11 62361790 62361790 + Silent SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_004739.2 -1 reviewed p.Q594 1.000 137 0% 76 44.7% - - - - - NULL KAT5 10524 genome.wustl.edu 37 11 65486375 65486375 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_182710.1 +1 reviewed p.E486K 1.000 171 0% 102 38.2% - - probably_damaging(0.999) tolerated(0.33) deleterious(0.514) HMMPfam_MOZ_SAS,superfamily_Acyl-CoA N-acyltransferases (Nat) FIBP 9158 genome.wustl.edu 37 11 65655341 65655341 + Silent SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 ENST00000442885 -1 known p.L116 0.001 65 0% 34 32.4% - - - - - NULL DPP3 10072 genome.wustl.edu 37 11 66263191 66263191 + Missense_Mutation SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_005700.3 +1 reviewed p.F556L 1.000 147 0% 84 34.5% - - probably_damaging(0.989) tolerated(0.23) deleterious(0.481) HMMPfam_Peptidase_M49 IGHMBP2 3508 genome.wustl.edu 37 11 68704361 68704361 + Missense_Mutation SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_002180.2 +1 reviewed p.L805V 0.001 21 0.000 5 0.800 - - benign(0) tolerated(1) - NULL ODZ4 26011 genome.wustl.edu 37 11 78600882 78600882 + Silent SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001098816.2 -1 validated p.L344 1.000 170 0% 83 47% - - - - - NULL EED 8726 genome.wustl.edu 37 11 85975252 85975252 + Missense_Mutation SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_003797.2 +1 reviewed p.L225V 0.795 275 0% 378 43.1% - - benign(0.253) deleterious(0.01) neutral(0.432) HMMSmart_SM00320,superfamily_WD40 repeat-like FZD4 8322 genome.wustl.edu 37 11 86662198 86662198 + Missense_Mutation SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_012193.2 -1 reviewed p.E534Q 1.000 287 0% 259 41.3% - - probably_damaging(0.98) tolerated(0.13) deleterious(0.676) NULL TRIM77P 390231 genome.wustl.edu 37 11 89447551 89447551 + Silent SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 XM_002343107.1 +1 model p.L233 0.002 174 0% 204 39.7% - - - - - NULL KIAA1731 85459 genome.wustl.edu 37 11 93431810 93431810 + Silent SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_033395.1 +1 validated p.L1244 0.000 92 0% 111 44.1% - - - - - NULL KIAA1731 85459 genome.wustl.edu 37 11 93432177 93432177 + Missense_Mutation SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_033395.1 +1 validated p.L1367V 0.007 67 0% 81 50.6% - - possibly_damaging(0.936) tolerated(0.24) neutral(0.419) NULL AMOTL1 154810 genome.wustl.edu 37 11 94597979 94597979 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_130847.2 +1 reviewed p.E739K 1.000 140 0% 140 42.9% - - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL TRPC6 7225 genome.wustl.edu 37 11 101347129 101347129 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_004621.5 -1 reviewed p.W549* 1.000 130 0% 209 41.1% - - - - - HMMPfam_Ion_trans ZC3H12C 85463 genome.wustl.edu 37 11 110030004 110030004 + Missense_Mutation SNP G G C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_033390.1 +1 validated p.E313Q 1.000 90 0% 107 39.3% - - probably_damaging(0.999) deleterious(0.03) deleterious(0.855) NULL ZC3H12C 85463 genome.wustl.edu 37 11 110030100 110030100 + Missense_Mutation SNP G G C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_033390.1 +1 validated p.E345Q 1.000 136 0% 137 38% - - probably_damaging(0.999) deleterious(0.03) deleterious(0.855) NULL SORL1 6653 genome.wustl.edu 37 11 121500267 121500267 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_003105.4 +1 reviewed p.A2214T 1.000 315 0% 318 40.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL OR6M1 390261 genome.wustl.edu 37 11 123676152 123676152 + Silent SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001005325.1 -1 provisional p.V302 0.000 56 0% 110 40% - - - - - superfamily_Family A G protein-coupled receptor-like OR10G9 219870 genome.wustl.edu 37 11 123894183 123894183 + Missense_Mutation SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001001953.1 +1 provisional p.S155F 0.856 224 0% 232 37.1% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_7tm_1,superfamily_SSF81321 IGSF9B 22997 genome.wustl.edu 37 11 133805615 133805615 + Silent SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_014987.1 -1 validated p.L288 0.999 27 0% 18 44.4% - - - - - HMMSmart_IGc2,HMMSmart_FN3,HMMPfam_I-set,superfamily_SSF48726 CD4 920 genome.wustl.edu 37 12 6926382 6926382 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_000616.3 +1 validated p.E348K 0.000 157 0% 140 60.7% - - benign(0) tolerated(0.74) neutral(0.002) HMMPfam_C2-set,superfamily_Immunoglobulin PHB2 11331 genome.wustl.edu 37 12 7079375 7079375 + Missense_Mutation SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001144831.1 -1 validated p.E66Q 1.000 87 0% 55 30.9% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Band_7,HMMSmart_SM00244 A2ML1 144568 genome.wustl.edu 37 12 8998740 8998740 + Silent SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_144670.3 +1 validated p.V535 0.925 444 0% 443 57.1% - - - - - HMMPfam_A2M_N_2 PZP 5858 genome.wustl.edu 37 12 9353925 9353925 + Missense_Mutation SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_002864.2 -1 validated p.E167Q 0.955 137 0% 232 29.3% - - benign(0.039) tolerated(1) neutral(0.002) HMMPfam_A2M_N KIAA1467 57613 genome.wustl.edu 37 12 13229056 13229056 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_020853.1 +1 validated p.G541S 0.992 159 0% 264 29.5% - - probably_damaging(0.978) tolerated(0.65) neutral(0.423) NULL EMP1 2012 genome.wustl.edu 37 12 13366730 13366730 + Silent SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001423.2 +1 validated p.L97 1.000 174 0% 308 49.4% - - - - - HMMPfam_PMP22_Claudin LOC728622 728622 genome.wustl.edu 37 12 17142408 17142408 + Missense_Mutation SNP G G C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 XM_001130365.3 +1 model p.D117H 1.000 208 0% 267 59.6% - - - - - HMMPfam_Skp1,superfamily_Skp1 dimerisation domain-like C12orf39 80763 genome.wustl.edu 37 12 21680708 21680708 + Missense_Mutation SNP G G C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_030572.2 +1 provisional p.D65H 0.979 64 0% 32 34.4% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL OVCH1 341350 genome.wustl.edu 37 12 29649119 29649119 + Silent SNP G G C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_183378.2 -1 validated p.L92 0.007 167 0% 185 57.8% - - - - - HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases C12orf35 55196 genome.wustl.edu 37 12 32137175 32137175 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_018169.3 +1 validated p.D1096N 0.002 153 0% 265 33.2% - - probably_damaging(0.998) tolerated(0.29) deleterious(0.503) NULL SYT10 341359 genome.wustl.edu 37 12 33535406 33535406 + Missense_Mutation SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_198992.2 -1 provisional p.K416N 1.000 381 0% 749 57.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_C2,HMMSmart_C2,superfamily_C2_CaLB SLC38A4 55089 genome.wustl.edu 37 12 47168957 47168957 + Splice_Site SNP C C A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001143824.1 -1 validated e12-1 1.000 46 0% 212 30.7% - - - - - - ATF1 466 genome.wustl.edu 37 12 51208198 51208198 + Missense_Mutation SNP G G C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_005171.3 +1 validated p.R216T 1.000 114 0% 206 23.8% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_BRLZ,HMMPfam_bZIP_1 LOC100129509 100129509 genome.wustl.edu 37 12 52771804 52771804 + Missense_Mutation SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 XM_001718424.1 +1 model p.L210V 0.001 103 0% 77 23.4% - - - - - NULL KRT1 3848 genome.wustl.edu 37 12 53072482 53072482 + Missense_Mutation SNP T T A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_006121.3 -1 reviewed p.Q217L 1.000 190 0% 157 24.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Filament ATP5G2 517 genome.wustl.edu 37 12 54059200 54059200 + Silent SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_005176.5 -1 reviewed p.L165 1.000 182 0.5% 233 30.9% - - - - - HMMPfam_ATP-synt_C,superfamily_ATPase_F0/V0_c,PatternScan_ATPASE_C KIAA0748 9840 genome.wustl.edu 37 12 55360991 55360991 + Missense_Mutation SNP C C A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001098815.1 -1 validated p.D96Y 1.000 136 0% 215 31.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL ERBB3 2065 genome.wustl.edu 37 12 56482341 56482341 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001982.2 +1 reviewed p.D297N 1.000 234 0% 222 27.5% - - possibly_damaging(0.92) deleterious(0.01) deleterious(0.776) HMMPfam_Furin-like,superfamily_Growth factor receptor domain ERBB3 2065 genome.wustl.edu 37 12 56482342 56482342 + Missense_Mutation SNP A A T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001982.2 +1 reviewed p.D297V 1.000 226 0% 213 28.6% - - probably_damaging(0.977) deleterious(0) deleterious(0.863) HMMPfam_Furin-like,superfamily_Growth factor receptor domain RBMS2 5939 genome.wustl.edu 37 12 56981448 56981448 + Silent SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_002898.3 +1 reviewed p.T354 1.000 129 0% 212 30.2% - - - - - NULL KIF5A 3798 genome.wustl.edu 37 12 57969053 57969053 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_004984.2 +1 reviewed p.Q635* 1.000 91 0% 75 32% - - - - - NULL MON2 23041 genome.wustl.edu 37 12 62918888 62918888 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_015026.2 +1 validated p.M378I 1.000 358 0.3% 728 26.8% - - possibly_damaging(0.808) tolerated(0.16) neutral(0.363) NULL MON2 23041 genome.wustl.edu 37 12 62919729 62919729 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_015026.2 +1 validated p.G416E 1.000 205 0% 393 29% - - benign(0.033) tolerated(0.67) neutral(0.004) NULL SRGAP1 57522 genome.wustl.edu 37 12 64491088 64491088 + Silent SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_020762.2 +1 validated p.L582 0.991 118 0% 221 56.6% - - - - - HMMPfam_RhoGAP,HMMSmart_SM00324,superfamily_GTPase activation domain GAP SLC35E3 55508 genome.wustl.edu 37 12 69140125 69140125 + Missense_Mutation SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 ENST00000319429 +1 known p.S31F 0.000 21 0% 20 40% - - - - - NULL PTPRR 5801 genome.wustl.edu 37 12 71286512 71286512 + Missense_Mutation SNP G G C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_002849.2 -1 reviewed p.Q102E 1.000 326 0.3% 587 58.8% - - benign(0) deleterious(0.02) neutral(0.383) NULL TBC1D15 64786 genome.wustl.edu 37 12 72316862 72316862 + Missense_Mutation SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_022771.4 +1 reviewed p.P652A 0.000 278 0% 368 26.1% - - benign(0.001) tolerated(0.51) neutral(0.009) NULL USP44 84101 genome.wustl.edu 37 12 95927036 95927036 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001042403.1 -1 validated p.Q333* 0.638 102 0% 176 50% - - - - - HMMPfam_UCH,superfamily_Cysteine proteinases CCDC38 120935 genome.wustl.edu 37 12 96310931 96310931 + Missense_Mutation SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_182496.2 -1 validated p.A94T 0.004 169 0% 303 31% - - benign(0.355) tolerated(1) neutral(0.113) NULL C12orf63 374467 genome.wustl.edu 37 12 97073484 97073484 + Silent SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_198520.2 +1 validated p.I315 0.337 71 0% 183 29.5% - - - - - NULL SCYL2 55681 genome.wustl.edu 37 12 100707251 100707251 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_017988.4 +1 provisional p.E302K 1.000 199 0% 259 55.2% - - benign(0.103) deleterious(0.04) neutral(0.357) HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),superfamily_ARM repeat,HMMPfam_Pkinase UTP20 27340 genome.wustl.edu 37 12 101706003 101706003 + Missense_Mutation SNP G G C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_014503.2 +1 validated p.R834T 1.000 176 0% 227 27.3% - - probably_damaging(0.99) tolerated(0.11) deleterious(0.713) superfamily_ARM repeat MYBPC1 4604 genome.wustl.edu 37 12 102045057 102045057 + Missense_Mutation SNP T T C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_002465.2 +1 validated p.L471P 1.000 311 0.3% 431 29% - - possibly_damaging(0.691) tolerated(0.13) deleterious(0.500) HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin FOXN4 121643 genome.wustl.edu 37 12 109725904 109725904 + Missense_Mutation SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_213596.2 -1 validated p.R105Q 0.079 13 0% 10 60% - - benign(0.282) tolerated(0.36) neutral(0.106) NULL C12orf51 283450 genome.wustl.edu 37 12 112646399 112646399 + Missense_Mutation SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001109662.2 -1 validated p.E2213Q 1.000 183 0% 243 31.7% - - benign(0.016) tolerated(0.5) neutral(0.011) NULL SLC24A6 80024 genome.wustl.edu 37 12 113759022 113759022 + Silent SNP G G C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_024959.2 -1 validated p.L96 0.776 157 0% 123 30.9% - - - - - NULL SRRM4 84530 genome.wustl.edu 37 12 119558070 119558070 + Missense_Mutation SNP G G C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_194286.2 +1 validated p.K151N 1.000 312 0% 403 25.3% - - unknown(0) deleterious(0.02) - NULL KNTC1 9735 genome.wustl.edu 37 12 123061462 123061462 + Silent SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_014708.4 +1 reviewed p.L869 0.997 330 0% 421 53.9% - - - - - NULL HIP1R 9026 genome.wustl.edu 37 12 123335823 123335823 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_003959.1 +1 validated p.E186K 1.000 234 0% 207 63.8% - - probably_damaging(0.984) tolerated(0.24) neutral(0.468) HMMPfam_ANTH AACS 65985 genome.wustl.edu 37 12 125626751 125626751 + Missense_Mutation SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 ENST00000261686 +1 known p.H598Y 1.000 95 0% 86 30.2% - - unknown(0) deleterious(0) - NULL RIMBP2 23504 genome.wustl.edu 37 12 130898703 130898703 + Missense_Mutation SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_015347.4 -1 validated p.E873D 1.000 112 0% 94 63.8% - - possibly_damaging(0.934) tolerated(0.11) deleterious(0.651) HMMSmart_SM00326,superfamily_SH3-domain,HMMPfam_SH3_2 NOC4L 79050 genome.wustl.edu 37 12 132632648 132632648 + Silent SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_024078.1 +1 provisional p.L245 0.997 91 0% 59 16.9% - - - - - NULL TPTE2 93492 genome.wustl.edu 37 13 20039454 20039454 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_199254.2 -1 validated p.S206L 1.000 357 0% 436 32.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Voltage-gated potassium channels NUPL1 9818 genome.wustl.edu 37 13 25881962 25881962 + Silent SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_014089.3 +1 reviewed p.L42 1.000 182 0% 141 40.4% - - - - - NULL ATP8A2 51761 genome.wustl.edu 37 13 26117487 26117487 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_016529.4 +1 validated p.Q280* 1.000 251 0% 294 32% - - - - - superfamily_Calcium ATPase transduction domain A POLR1D 51082 genome.wustl.edu 37 13 28222568 28222568 + Missense_Mutation SNP G G C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_152705.1 +1 provisional p.E27Q 1.000 194 0% 319 36.7% - - probably_damaging(0.999) deleterious(0.04) deleterious(0.839) NULL BRCA2 675 genome.wustl.edu 37 13 32930592 32930592 + Missense_Mutation SNP G G C rs80358968 TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_000059.3 +1 reviewed p.R2488T 1.000 136 0% 138 44.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_BRCA-2_helical,superfamily_BRCA2_helical PDS5B 23047 genome.wustl.edu 37 13 33349165 33349165 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_015032.3 +1 reviewed p.R1440Q 1.000 148 0% 268 40.3% - - unknown(0) deleterious(0) - NULL KL 9365 genome.wustl.edu 37 13 33628360 33628360 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_004795.3 +1 reviewed p.D426N 1.000 190 0% 177 41.2% - - possibly_damaging(0.527) tolerated(0.28) neutral(0.209) HMMPfam_Glyco_hydro_1,superfamily_(Trans)glycosidases KBTBD6 89890 genome.wustl.edu 37 13 41704935 41704935 + Silent SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_152903.4 -1 validated p.I571 1.000 404 0% 402 39.6% - - - - - superfamily_Gal_oxid_central KIAA0564 23078 genome.wustl.edu 37 13 42303695 42303695 + Missense_Mutation SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_015058.1 -1 validated p.G874E 1.000 186 0% 418 41.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00382,HMMPfam_AAA_5,superfamily_P-loop containing nucleoside triphosphate hydrolases TRIM13 10206 genome.wustl.edu 37 13 50586697 50586697 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001007278.1 +1 reviewed p.M210I 1.000 94 0% 174 31% - - benign(0.004) tolerated(0.57) neutral(0.006) NULL TRIM13 10206 genome.wustl.edu 37 13 50587205 50587205 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001007278.1 +1 reviewed p.D380N 0.972 268 0% 304 34.5% - - benign(0.139) tolerated(0.05) neutral(0.357) NULL VPS36 51028 genome.wustl.edu 37 13 52990009 52990009 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_016075.2 -1 validated p.E373* 1.000 216 0% 234 40.2% - - - - - NULL HNRNPA1L2 144983 genome.wustl.edu 37 13 53216902 53216902 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001011724.1 +1 validated p.R92K 1.000 15 0% 17 47.1% - - benign(0.072) tolerated(0.14) neutral(0.255) superfamily_SSF54928 PCDH9 5101 genome.wustl.edu 37 13 67205516 67205516 + Missense_Mutation SNP G G T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_203487.2 -1 reviewed p.P1056T 1.000 76 0% 87 40.2% - - benign(0.029) tolerated(0.4) neutral(0.018) NULL RNF219 79596 genome.wustl.edu 37 13 79190388 79190388 + Nonsense_Mutation SNP G G C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_024546.3 -1 validated p.S503* 0.936 151 0% 158 33.5% - - - - - NULL UGGT2 55757 genome.wustl.edu 37 13 96536792 96536792 + Missense_Mutation SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_020121.3 -1 validated p.E1061K 1.000 162 0% 229 41.5% - - probably_damaging(0.978) deleterious(0) deleterious(0.865) HMMPfam_UDP-g_GGTase METTL21C 196541 genome.wustl.edu 37 13 103343261 103343261 + Missense_Mutation SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001010977.1 -1 predicted p.D62N 0.037 384 0.3% 313 12.8% - - benign(0.001) tolerated(0.33) neutral(0.024) superfamily_SSF53335 LOC643677 643677 genome.wustl.edu 37 13 103396408 103396408 + Missense_Mutation SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 XM_002344085.1 -1 model p.K2142N 0.000 210 0% 516 40.7% - - - - - NULL TUBGCP3 10426 genome.wustl.edu 37 13 113208490 113208490 + Silent SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_006322.4 -1 provisional p.L283 0.943 193 0% 137 45.3% - - - - - HMMPfam_Spc97_Spc98 OR11H2 79334 genome.wustl.edu 37 14 20181611 20181611 + Silent SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 ENST00000334072 -1 known p.L155 0.001 465 0% 644 19.6% - - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR6S1 341799 genome.wustl.edu 37 14 21109418 21109418 + Missense_Mutation SNP G G T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001001968.1 -1 provisional p.R145S 0.000 83 0% 68 48.5% - - benign(0.002) tolerated(0.43) neutral(0.013) HMMPfam_7tm_1,superfamily_SSF81321 SUPT16H 11198 genome.wustl.edu 37 14 21827717 21827717 + Missense_Mutation SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_007192.3 -1 reviewed p.E743Q 1.000 253 0% 195 39.5% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL SALL2 6297 genome.wustl.edu 37 14 21993136 21993136 + Missense_Mutation SNP G G C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_005407.1 -1 validated p.F242L 1.000 74 0% 47 46.8% - - benign(0.047) tolerated(0.9) neutral(0.003) NULL ACIN1 22985 genome.wustl.edu 37 14 23549997 23549997 + Missense_Mutation SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_014977.3 -1 validated p.E241Q 1.000 239 0% 252 36.5% - - probably_damaging(0.996) deleterious(0.01) deleterious(0.867) NULL JPH4 84502 genome.wustl.edu 37 14 24040169 24040169 + Missense_Mutation SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_032452.2 -1 reviewed p.E591K 1.000 23 0% 13 46.2% - - possibly_damaging(0.875) tolerated(0.18) neutral(0.396) NULL IRF9 10379 genome.wustl.edu 37 14 24632289 24632289 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_006084.4 +1 validated p.E99K 0.957 199 0% 120 37.5% - - benign(0.026) deleterious(0.01) neutral(0.407) HMMPfam_IRF,HMMSmart_IRF,superfamily_SSF46785 NEDD8 4738 genome.wustl.edu 37 14 24686360 24686360 + Silent SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_006156.2 -1 validated p.L73 0.999 149 0% 123 39% - - - - - HMMPfam_ubiquitin,superfamily_Ubiquitin-like C14orf21 161424 genome.wustl.edu 37 14 24770862 24770862 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_174913.1 +1 provisional p.E248K 1.000 215 0% 133 29.3% - - possibly_damaging(0.916) tolerated(0.05) deleterious(0.712) NULL ADCY4 196883 genome.wustl.edu 37 14 24787658 24787658 + Missense_Mutation SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_139247.2 -1 reviewed p.L1066F 1.000 371 0% 241 38.2% - - possibly_damaging(0.671) tolerated(0.21) neutral(0.282) NULL FAM177A1 283635 genome.wustl.edu 37 14 35550349 35550349 + Missense_Mutation SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_173607.3 +1 validated p.S209L 1.000 223 0% 242 33.9% - - possibly_damaging(0.873) deleterious(0.01) deleterious(0.745) NULL PNN 5411 genome.wustl.edu 37 14 39648531 39648531 + Frame_Shift_Del DEL G G - novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_002687.3 +1 validated p.E220fs 1.000 - - - - - - - - - HMMPfam_Pinin_SDK_memA PNN 5411 genome.wustl.edu 37 14 39648534 39648534 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_002687.3 +1 validated p.E221K 1.000 282 0% 261 37.5% - - probably_damaging(0.992) tolerated(0.12) deleterious(0.708) HMMPfam_Pinin_SDK_memA PNN 5411 genome.wustl.edu 37 14 39649925 39649925 + Missense_Mutation SNP G G C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_002687.3 +1 validated p.E338Q 1.000 529 0.2% 522 37% - - possibly_damaging(0.67) tolerated(0.19) neutral(0.287) NULL PNN 5411 genome.wustl.edu 37 14 39650039 39650039 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_002687.3 +1 validated p.E376K 1.000 291 0% 326 40.8% - - possibly_damaging(0.915) tolerated(0.13) deleterious(0.619) NULL PNN 5411 genome.wustl.edu 37 14 39650183 39650183 + Missense_Mutation SNP G G C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_002687.3 +1 validated p.E424Q 1.000 140 0% 147 34% - - probably_damaging(0.959) tolerated(0.23) neutral(0.444) NULL PNN 5411 genome.wustl.edu 37 14 39650489 39650489 + Missense_Mutation SNP G G C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_002687.3 +1 validated p.E526Q 1.000 244 0% 239 39.3% - - possibly_damaging(0.763) tolerated(0.29) neutral(0.312) NULL MIA2 117153 genome.wustl.edu 37 14 39716256 39716256 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_054024.3 +1 validated p.Q160* 0.044 84 0% 164 41.5% - - - - - NULL FAM179B 23116 genome.wustl.edu 37 14 45523743 45523743 + Nonsense_Mutation SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_015091.2 +1 validated p.S1464* 0.120 139 0% 152 42.1% - - - - - superfamily_ARM repeat SOS2 6655 genome.wustl.edu 37 14 50612271 50612271 + Missense_Mutation SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_006939.2 -1 validated p.E810Q 1.000 351 0% 502 34.5% - - benign(0.039) tolerated(0.08) neutral(0.302) HMMPfam_RasGEF,HMMSmart_RasGEF,superfamily_Ras_GEF SAV1 60485 genome.wustl.edu 37 14 51111570 51111570 + Missense_Mutation SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_021818.2 -1 reviewed p.R233Q 1.000 183 0% 182 11% - - possibly_damaging(0.952) tolerated(0.16) neutral(0.455) superfamily_WW domain NID2 22795 genome.wustl.edu 37 14 52520402 52520402 + Missense_Mutation SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_007361.3 -1 validated p.E442K 0.046 153 0% 137 47.4% - - benign(0.049) tolerated(0.39) neutral(0.019) NULL PTGDR 5729 genome.wustl.edu 37 14 52741476 52741476 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_000953.2 +1 reviewed p.D292N 0.000 257 0% 264 33% - - benign(0.001) tolerated(0.6) neutral(0.004) HMMPfam_7tm_1,superfamily_SSF81321 OTX2 5015 genome.wustl.edu 37 14 57268999 57268999 + Silent SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_021728.2 -1 reviewed p.V116 1.000 222 0% 160 41.9% - - - - - NULL RTN1 6252 genome.wustl.edu 37 14 60193747 60193747 + Missense_Mutation SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_021136.2 -1 reviewed p.R552Q 0.004 50 0% 27 44.4% - - benign(0.001) tolerated(1) - NULL SLC38A6 145389 genome.wustl.edu 37 14 61451460 61451460 + Silent SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_153811.2 +1 validated p.L83 0.995 697 0% 581 38.2% - - - - - HMMPfam_Aa_trans KCNH5 27133 genome.wustl.edu 37 14 63175005 63175005 + Missense_Mutation SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_139318.3 -1 reviewed p.E730Q 0.999 160 0% 121 46.3% - - possibly_damaging(0.872) tolerated(0.11) deleterious(0.611) NULL SYNE2 23224 genome.wustl.edu 37 14 64469987 64469987 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_182914.2 +1 reviewed p.V1446M 0.692 46 0% 64 29.7% - - probably_damaging(0.982) - - HMMSmart_SPEC SYNE2 23224 genome.wustl.edu 37 14 64593450 64593450 + Silent SNP G G C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_182914.2 +1 reviewed p.L4614 0.984 89 0% 107 38.3% - - - - - NULL SYNE2 23224 genome.wustl.edu 37 14 64593492 64593492 + Silent SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_182914.2 +1 reviewed p.L4628 0.999 80 0% 113 36.3% - - - - - NULL FNTB 2342 genome.wustl.edu 37 14 65499401 65499401 + Missense_Mutation SNP G G C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_002028.3 +1 validated p.E227Q 0.997 67 0% 71 33.8% - - benign(0.178) deleterious(0.03) neutral(0.381) HMMPfam_Prenyltrans,superfamily_Terpenoid cyclases/Protein prenyltransferases GPHN 10243 genome.wustl.edu 37 14 67382735 67382735 + Missense_Mutation SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_020806.4 +1 reviewed p.I135M 1.000 351 0% 643 41.8% - - probably_damaging(0.969) deleterious(0) deleterious(0.856) HMMPfam_MoCF_biosynth,superfamily_MoCF_biosynth FAM71D 161142 genome.wustl.edu 37 14 67671311 67671311 + Silent SNP G G C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_173526.2 +1 validated p.L139 0.975 240 0% 205 34.1% - - - - - NULL SIPA1L1 26037 genome.wustl.edu 37 14 72152256 72152256 + Silent SNP T T C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_015556.1 +1 provisional p.N1094 0.993 78 0% 72 34.7% - - - - - NULL NUMB 8650 genome.wustl.edu 37 14 73743300 73743300 + Missense_Mutation SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001005743.1 -1 reviewed p.E648Q 1.000 197 0% 172 40.1% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL C14orf43 91748 genome.wustl.edu 37 14 74186046 74186046 + Silent SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001043318.1 -1 validated p.Q1032 0.995 212 0% 127 37% - - - - - NULL C14orf43 91748 genome.wustl.edu 37 14 74188077 74188077 + Missense_Mutation SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001043318.1 -1 validated p.E954Q 1.000 220 0% 106 34.9% - - possibly_damaging(0.837) deleterious(0) deleterious(0.764) NULL C14orf45 80127 genome.wustl.edu 37 14 74514772 74514772 + Missense_Mutation SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_025057.2 +1 validated p.Q263E 0.989 300 0% 344 41.9% - - benign(0.002) tolerated(0.5) neutral(0.010) NULL FCF1 51077 genome.wustl.edu 37 14 75181642 75181642 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_015962.4 +1 validated p.E47K 1.000 150 0% 151 41.7% - - benign(0.08) tolerated(0.22) neutral(0.048) NULL MLH3 27030 genome.wustl.edu 37 14 75508377 75508377 + Nonsense_Mutation SNP C C A rs113490514 TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001040108.1 -1 reviewed p.E1136* 0.024 188 0% 166 36.7% - - - - - NULL SAMD15 161394 genome.wustl.edu 37 14 77844653 77844653 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001010860.1 +1 provisional p.E298K 0.519 91 1.1% 87 40.2% - - benign(0.022) tolerated(0.2) neutral(0.050) NULL SAMD15 161394 genome.wustl.edu 37 14 77844728 77844728 + Missense_Mutation SNP G G C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001010860.1 +1 provisional p.E323Q 0.002 115 0% 90 35.6% - - possibly_damaging(0.952) deleterious(0.02) deleterious(0.778) NULL TTC8 123016 genome.wustl.edu 37 14 89336424 89336424 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_144596.2 +1 reviewed p.A311T 1.000 100 0% 214 35% - - possibly_damaging(0.943) deleterious(0.01) deleterious(0.793) HMMPfam_TPR_1,HMMSmart_TPR,superfamily_SSF48452 CATSPERB 79820 genome.wustl.edu 37 14 92139258 92139258 + Missense_Mutation SNP G G C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_024764.2 -1 validated p.L361V 1.000 100 0% 124 48.4% - - possibly_damaging(0.653) tolerated(0.34) neutral(0.253) NULL DDX24 57062 genome.wustl.edu 37 14 94546066 94546066 + Nonsense_Mutation SNP G G C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_020414.3 -1 reviewed p.S8* 0.014 296 0% 263 38.8% - - - - - NULL C14orf2 9556 genome.wustl.edu 37 14 104387286 104387286 + Missense_Mutation SNP G G C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001127393.1 -1 validated p.F14L 0.015 445 0% 289 40.5% - - unknown(0) - - NULL ENSG00000215407 0 genome.wustl.edu 37 15 20457351 20457351 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 ENST00000400226 -1 known p.H180Y 1.000 228 0% 193 16.1% - - - - - HMMPfam_BRO1 MKRN3 7681 genome.wustl.edu 37 15 23811455 23811455 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_005664.3 +1 reviewed p.E176K 0.987 15 0% 20 50% - - probably_damaging(0.995) tolerated(0.36) deleterious(0.478) NULL LOC283711 283711 genome.wustl.edu 37 15 31712809 31712809 + RNA SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 XR_040656.2 +1 model NULL 0.999 17 0% 20 40% - - - - - - ZNF770 54989 genome.wustl.edu 37 15 35273921 35273921 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_014106.2 -1 validated p.S572L 0.257 170 0% 168 44.6% - - benign(0.258) tolerated(0.08) neutral(0.327) NULL NUSAP1 51203 genome.wustl.edu 37 15 41657722 41657722 + Missense_Mutation SNP G G C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_016359.3 +1 validated p.Q261H 0.008 58 0% 36 27.8% - - benign(0.139) deleterious(0.02) neutral(0.395) NULL TP53BP1 7158 genome.wustl.edu 37 15 43749128 43749128 + Missense_Mutation SNP G G C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001141980.1 -1 validated p.L560V 0.991 350 0% 316 39.9% - - benign(0.021) tolerated(0.3) neutral(0.030) NULL NARG2 79664 genome.wustl.edu 37 15 60760391 60760391 + Missense_Mutation SNP G G C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_024611.4 -1 validated p.P93A 1.000 280 0% 349 36.7% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL HERC1 8925 genome.wustl.edu 37 15 63970223 63970223 + Missense_Mutation SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_003922.3 -1 reviewed p.R2297S 1.000 322 0% 305 40% - - benign(0.002) - - NULL LARP6 55323 genome.wustl.edu 37 15 71143982 71143982 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_197958.1 -1 validated p.T93I 0.000 353 0% 273 37.7% - - unknown(0) - - NULL SIN3A 25942 genome.wustl.edu 37 15 75684776 75684776 + Missense_Mutation SNP G G C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001145357.1 -1 reviewed p.F886L 1.000 292 0% 330 34.5% - - benign(0.352) deleterious(0.04) neutral(0.460) NULL PTPN9 5780 genome.wustl.edu 37 15 75798047 75798047 + Missense_Mutation SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_002833.2 -1 reviewed p.E313K 0.799 257 0% 185 42.2% - - benign(0) tolerated(0.44) neutral(0.013) HMMSmart_PTPc,superfamily_SSF52799 SGK269 79834 genome.wustl.edu 37 15 77471427 77471427 + Missense_Mutation SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_024776.2 -1 validated p.E948Q 1.000 168 0% 285 38.9% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL IREB2 3658 genome.wustl.edu 37 15 78789570 78789570 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_004136.2 +1 validated p.D900N 0.924 300 0% 333 34.8% - - benign(0.003) deleterious(0.04) neutral(0.349) superfamily_Aconitase EFTUD1 79631 genome.wustl.edu 37 15 82554089 82554089 + Missense_Mutation SNP G G C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_024580.5 -1 validated p.Q11E 0.476 547 0% 464 39% - - benign(0) tolerated(1) - superfamily_P-loop containing nucleoside triphosphate hydrolases ADAMTSL3 57188 genome.wustl.edu 37 15 84373236 84373236 + Silent SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_207517.2 +1 validated p.F55 1.000 208 0% 282 47.5% - - - - - NULL ADAMTSL3 57188 genome.wustl.edu 37 15 84657473 84657473 + Missense_Mutation SNP G G C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_207517.2 +1 validated p.Q1249H 1.000 272 0% 258 41.5% - - benign(0.002) tolerated(0.22) neutral(0.042) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin KIF7 374654 genome.wustl.edu 37 15 90176072 90176072 + Missense_Mutation SNP G G C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_198525.2 -1 validated p.S958R 1.000 50 0% 25 40% - - probably_damaging(0.991) tolerated(0.58) neutral(0.449) NULL WDR93 56964 genome.wustl.edu 37 15 90255328 90255328 + Silent SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_020212.1 +1 provisional p.L211 0.914 140 0% 148 35.8% - - - - - NULL ANPEP 290 genome.wustl.edu 37 15 90328708 90328708 + Missense_Mutation SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001150.2 -1 reviewed p.E926Q 0.000 282 0% 178 36.5% - - benign(0.002) tolerated(0.59) neutral(0.004) NULL IQGAP1 8826 genome.wustl.edu 37 15 91020460 91020460 + Missense_Mutation SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_003870.3 +1 reviewed p.I1034M 1.000 71 0% 112 34.8% - - possibly_damaging(0.553) deleterious(0) deleterious(0.633) HMMPfam_RasGAP,HMMSmart_SM00323,superfamily_GTPase activation domain GAP IFT140 9742 genome.wustl.edu 37 16 1639743 1639743 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_014714.3 -1 validated p.Q225* 0.000 99 0% 59 40.7% - - - - - superfamily_YVTN repeat-like/Quinoprotein amine dehydrogenase ZNF75A 7627 genome.wustl.edu 37 16 3367720 3367720 + Missense_Mutation SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_153028.2 +1 validated p.H248Y 0.998 99 0% 133 39.1% - - benign(0) tolerated(0.2) neutral(0.049) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 GSPT1 2935 genome.wustl.edu 37 16 11990589 11990589 + Missense_Mutation SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_002094.3 -1 validated p.E164K 1.000 348 0% 362 39% - - benign(0.025) tolerated(0.3) neutral(0.030) NULL TNFRSF17 608 genome.wustl.edu 37 16 12061435 12061435 + Missense_Mutation SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001192.2 +1 reviewed p.L96F 0.031 61 0% 69 40.6% - - probably_damaging(0.962) deleterious(0.04) deleterious(0.754) NULL DNAH3 55567 genome.wustl.edu 37 16 20999362 20999362 + Silent SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_017539.1 -1 provisional p.I2209 0.870 280 0.4% 248 36.7% - - - - - HMMSmart_SM00382,HMMPfam_AAA_5,superfamily_P-loop containing nucleoside triphosphate hydrolases SRCAP 10847 genome.wustl.edu 37 16 30749558 30749558 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_006662.2 +1 validated p.Q2733* 1.000 47 0% 29 24.1% - - - - - NULL ITGAD 3681 genome.wustl.edu 37 16 31422820 31422820 + Silent SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_005353.2 +1 validated p.I563 0.167 78 0% 57 36.8% - - - - - HMMSmart_SM00191,superfamily_Integrin alpha N-terminal domain ZNF843 283933 genome.wustl.edu 37 16 31447939 31447939 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001136509.1 -1 provisional p.H78Y 0.045 46 0% 18 33.3% - - benign(0.014) - - NULL LOC100289574 100289574 genome.wustl.edu 37 16 32190813 32190813 + Missense_Mutation SNP G G C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 XM_002343438.1 -1 model p.S123R 0.997 58 0% 64 12.5% - - benign(0.009) tolerated(0.21) neutral(0.044) NULL DNAJA2 10294 genome.wustl.edu 37 16 46998598 46998598 + Missense_Mutation SNP G G C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_005880.3 -1 reviewed p.F233L 0.993 473 0% 379 40.6% - - probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_DnaJ_C,superfamily_HSP40/DnaJ peptide-binding domain ADCY7 113 genome.wustl.edu 37 16 50342643 50342643 + Silent SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001114.3 +1 reviewed p.L667 1.000 25 0% 14 28.6% - - - - - NULL RPGRIP1L 23322 genome.wustl.edu 37 16 53671646 53671646 + Missense_Mutation SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_015272.2 -1 reviewed p.E1061K 1.000 260 0.4% 387 41.3% - - possibly_damaging(0.521) tolerated(0.6) neutral(0.180) NULL MMP2 4313 genome.wustl.edu 37 16 55522481 55522481 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_004530.4 +1 reviewed p.E287K 0.998 68 0% 42 38.1% - - benign(0.032) deleterious(0.01) neutral(0.407) HMMSmart_FN2,HMMPfam_Peptidase_M10,HMMSmart_ZnMc,superfamily_Kringle-like,superfamily_SSF55486 GNAO1 2775 genome.wustl.edu 37 16 56362577 56362577 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_020988.2 +1 validated p.R113Q 1.000 84 0% 44 54.5% - - benign(0.153) tolerated(0.93) neutral(0.013) HMMPfam_G-alpha,superfamily_Transducin (alpha subunit) insertion domain,HMMSmart_SM00275,superfamily_P-loop containing nucleoside triphosphate hydrolases C16orf57 79650 genome.wustl.edu 37 16 58052893 58052893 + Silent SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_024598.2 +1 validated p.L209 1.000 117 0% 63 41.3% - - - - - HMMPfam_HVSL MMP15 4324 genome.wustl.edu 37 16 58075771 58075771 + Silent SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_002428.2 +1 reviewed p.F387 1.000 58 0% 31 38.7% - - - - - superfamily_Hemopexin,HMMPfam_Hemopexin,HMMSmart_HX CDH11 1009 genome.wustl.edu 37 16 65005956 65005956 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001797.2 -1 reviewed p.Q468* 1.000 110 0% 129 42.6% - - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like CES4A 283848 genome.wustl.edu 37 16 67029616 67029616 + Missense_Mutation SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_173815.4 +1 validated p.I48M 0.145 185 0% 113 33.6% - - possibly_damaging(0.908) deleterious(0) deleterious(0.806) HMMPfam_COesterase,superfamily_SSF53474 CTCF 10664 genome.wustl.edu 37 16 67645273 67645273 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_006565.2 +1 reviewed p.Q180* 1.000 139 0% 132 39.4% - - - - - NULL EDC4 23644 genome.wustl.edu 37 16 67916624 67916624 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_014329.3 +1 validated p.R1162Q 0.972 64 0% 44 34.1% - - probably_damaging(0.995) tolerated(0.34) deleterious(0.481) NULL ZFP90 146198 genome.wustl.edu 37 16 68598161 68598161 + Missense_Mutation SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_133458.2 +1 provisional p.H491D 0.998 139 0% 199 43.7% - - possibly_damaging(0.727) deleterious(0.01) deleterious(0.670) superfamily_C2H2 and C2HC zinc fingers NFAT5 10725 genome.wustl.edu 37 16 69726449 69726449 + Silent SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_138713.2 +1 reviewed p.V907 0.997 108 0% 98 32.7% - - - - - NULL HYDIN 54768 genome.wustl.edu 37 16 70929977 70929977 + Missense_Mutation SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_032821.2 -1 validated p.D3018H 0.993 184 0% 229 45.4% - - possibly_damaging(0.479) deleterious(0) deleterious(0.603) NULL AP1G1 164 genome.wustl.edu 37 16 71773166 71773166 + Nonsense_Mutation SNP G G C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001030007.1 -1 reviewed p.S696* 1.000 203 0% 142 41.5% - - - - - NULL NPIPL2 440348 genome.wustl.edu 37 16 74425781 74425781 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 ENST00000429990 +1 known p.E379K 0.998 330 0% 216 12% - - possibly_damaging(0.883) deleterious(0.01) deleterious(0.750) NULL CNTNAP4 85445 genome.wustl.edu 37 16 76569522 76569522 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_138994.3 +1 validated p.E873K 1.000 139 0% 127 34.6% - - possibly_damaging(0.894) deleterious(0.03) deleterious(0.716) superfamily_Concanavalin A-like lectins/glucanases USP10 9100 genome.wustl.edu 37 16 84806215 84806215 + Silent SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_005153.2 +1 reviewed p.F689 1.000 348 0% 263 41.8% - - - - - HMMPfam_UCH,superfamily_SSF54001 DPEP1 1800 genome.wustl.edu 37 16 89704622 89704622 + Missense_Mutation SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001128141.1 +1 validated p.L410V 0.001 57 0% 29 34.5% - - unknown(0) deleterious(0) - NULL NXN 64359 genome.wustl.edu 37 17 729282 729282 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_022463.3 -1 validated p.P133S 1.000 383 0.3% 320 38.4% - - probably_damaging(0.995) deleterious(0) deleterious(0.902) superfamily_Thioredoxin-like KIAA0664 23277 genome.wustl.edu 37 17 2603737 2603737 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_015229.3 -1 validated p.T364M 0.990 49 0% 15 33.3% - - probably_damaging(1) deleterious(0.03) deleterious(0.865) NULL ZZEF1 23140 genome.wustl.edu 37 17 4017638 4017638 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_015113.3 -1 validated p.S274L 0.035 211 0% 248 36.7% - - benign(0.229) tolerated(0.18) neutral(0.079) HMMPfam_APC10,superfamily_Galactose-binding domain-like SLC52A1 55065 genome.wustl.edu 37 17 4937394 4937394 + Silent SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001104577.1 -1 validated p.V130 1.000 175 0% 109 37.6% - - - - - NULL ACADVL 37 genome.wustl.edu 37 17 7125548 7125548 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_000018.2 +1 reviewed p.D269N 1.000 64 0% 46 28.3% - - benign(0.253) tolerated(0.08) neutral(0.326) superfamily_Acyl-CoA dehydrogenase NM domain-like SLC35G6 643664 genome.wustl.edu 37 17 7385341 7385341 + Missense_Mutation SNP C C A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001102614.1 +1 provisional p.S13Y 1.000 173 0% 81 49.4% - - benign(0.002) tolerated(0.86) neutral(0.001) NULL TNFSF12-TNFSF13 407977 genome.wustl.edu 37 17 7463713 7463713 + Missense_Mutation SNP G G C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_172089.2 +1 reviewed p.R264P 1.000 79 0% 51 19.6% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_TNF,HMMSmart_TNF,superfamily_TNF_like DNAH2 146754 genome.wustl.edu 37 17 7695357 7695357 + Silent SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_020877.2 +1 validated p.L2341 1.000 175 0% 99 40.4% - - - - - superfamily_P-loop containing nucleoside triphosphate hydrolases ALOXE3 59344 genome.wustl.edu 37 17 8021373 8021373 + Missense_Mutation SNP G G C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 ENST00000380149 -1 known p.S135C 0.010 68 0% 37 43.2% - - possibly_damaging(0.911) deleterious(0) deleterious(0.807) NULL AURKB 9212 genome.wustl.edu 37 17 8108252 8108252 + Silent SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_004217.2 -1 validated p.H324 1.000 76 0% 47 38.3% - - - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase RANGRF 29098 genome.wustl.edu 37 17 8192118 8192118 + Silent SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_016492.4 +1 reviewed p.T4 0.051 87 0% 48 43.8% - - - - - superfamily_Mog1p/PsbP-like MYH10 4628 genome.wustl.edu 37 17 8438804 8438804 + Missense_Mutation SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_005964.1 -1 validated p.D589H 0.999 101 0% 125 24.8% - - possibly_damaging(0.694) deleterious(0.02) deleterious(0.632) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases MYH8 4626 genome.wustl.edu 37 17 10304087 10304087 + Missense_Mutation SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_002472.2 -1 reviewed p.E1119Q 1.000 149 0% 111 40.5% - - possibly_damaging(0.945) tolerated(0.13) deleterious(0.642) HMMPfam_Myosin_tail_1 TRPV2 51393 genome.wustl.edu 37 17 16326862 16326862 + Silent SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 ENST00000455666 +1 known p.R193C 0.000 35 0% 19 36.8% - - - - - HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat MYO15A 51168 genome.wustl.edu 37 17 18045516 18045516 + Silent SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_016239.3 +1 reviewed p.L1925 0.995 58 0% 31 45.2% - - - - - HMMSmart_SM00015,superfamily_P-loop containing nucleoside triphosphate hydrolases POLDIP2 26073 genome.wustl.edu 37 17 26675217 26675217 + Missense_Mutation SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_015584.3 -1 reviewed p.D344H 1.000 245 0% 154 45.5% - - - - - superfamily_ApaG-like (Pfam 04379) KIAA0100 9703 genome.wustl.edu 37 17 26961567 26961567 + Missense_Mutation SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_014680.2 -1 validated p.R1013Q 1.000 45 0% 50 42% - - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL SUPT6H 6830 genome.wustl.edu 37 17 27002162 27002162 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_003170.3 +1 validated p.E174K 1.000 139 0% 131 38.2% - - unknown(0) tolerated(0.47) - NULL EFCAB5 374786 genome.wustl.edu 37 17 28407207 28407207 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_198529.3 +1 validated p.D1049N 1.000 290 0% 280 41.8% - - probably_damaging(0.97) deleterious(0.02) deleterious(0.795) NULL SLFN11 91607 genome.wustl.edu 37 17 33679567 33679567 + Silent SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001104587.1 -1 validated p.L838 0.000 351 0.3% 336 37.8% - - - - - superfamily_P-loop containing nucleoside triphosphate hydrolases TADA2A 6871 genome.wustl.edu 37 17 35834664 35834664 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001488.3 +1 reviewed p.R359K 1.000 217 0.5% 228 39% - - probably_damaging(0.971) tolerated(0.13) deleterious(0.665) HMMPfam_SWIRM GPR179 440435 genome.wustl.edu 37 17 36483031 36483031 + Missense_Mutation SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001004334.2 -1 validated p.E2141Q 0.000 150 0% 106 47.2% - - probably_damaging(0.972) tolerated(0.13) deleterious(0.666) NULL CISD3 284106 genome.wustl.edu 37 17 36889705 36889705 + Silent SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001136498.1 +1 validated p.L127 0.994 25 0% 18 27.8% - - - - - NULL CDK12 51755 genome.wustl.edu 37 17 37627688 37627688 + Missense_Mutation SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_016507.2 +1 validated p.P535S 1.000 327 0% 307 47.9% - - unknown(0) deleterious(0.01) - NULL TOP2A 7153 genome.wustl.edu 37 17 38562675 38562675 + Silent SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001067.2 -1 reviewed p.F638 1.000 314 0% 352 33.5% - - - - - HMMSmart_SM00433,superfamily_Type II DNA topoisomerase SMARCE1 6605 genome.wustl.edu 37 17 38785228 38785228 + Missense_Mutation SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_003079.4 -1 reviewed p.E349K 1.000 160 0% 197 34% - - possibly_damaging(0.722) tolerated(0.54) neutral(0.270) NULL ACLY 47 genome.wustl.edu 37 17 40065317 40065317 + Silent SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001096.2 -1 reviewed p.L181 1.000 160 0% 120 42.5% - - - - - superfamily_SSF56059 LRRC46 90506 genome.wustl.edu 37 17 45913811 45913811 + Missense_Mutation SNP G G C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_033413.3 +1 validated p.E189Q 0.993 150 0% 83 43.4% - - probably_damaging(0.989) deleterious(0.04) deleterious(0.788) NULL HOXB3 3213 genome.wustl.edu 37 17 46629749 46629749 + Missense_Mutation SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_002146.4 -1 reviewed p.D30H 1.000 21 0% 11 45.5% - - possibly_damaging(0.537) deleterious(0.05) deleterious(0.527) NULL ABCC3 8714 genome.wustl.edu 37 17 48757229 48757229 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_003786.3 +1 reviewed p.R1259K 1.000 197 0% 153 42.5% - - probably_damaging(0.995) deleterious(0.03) deleterious(0.822) superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain ENSG00000154251 0 genome.wustl.edu 37 17 66121864 66121864 + Missense_Mutation SNP G G C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 ENST00000284414 -1 known p.F216L 0.139 8 0.000 23 0.478 - - - - - NULL ABCA8 10351 genome.wustl.edu 37 17 66924146 66924146 + Nonsense_Mutation SNP G G C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_007168.2 -1 reviewed p.S395* 0.003 183 0% 187 32.6% - - - - - NULL KCNJ2 3759 genome.wustl.edu 37 17 68172159 68172159 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_000891.2 +1 reviewed p.E327K 1.000 80 0% 112 44.6% - - benign(0.144) tolerated(0.28) neutral(0.044) HMMPfam_IRK,superfamily_E set domains HGS 9146 genome.wustl.edu 37 17 79660922 79660922 + Missense_Mutation SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_004712.3 +1 provisional p.S288L 0.332 37 0% 20 20% - - benign(0) tolerated(1) - NULL EMILIN2 84034 genome.wustl.edu 37 18 2892001 2892001 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_032048.2 +1 validated p.Q626* 0.003 159 0% 145 33.8% - - - - - NULL LOC100288932 100288932 genome.wustl.edu 37 18 10471575 10471575 + Missense_Mutation SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 XM_002344139.1 -1 model p.E174K 1.000 183 0% 115 40.9% - - - - - NULL C18orf1 753 genome.wustl.edu 37 18 13645543 13645543 + Missense_Mutation SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_181481.3 +1 validated p.H270Y 1.000 63 0% 29 37.9% - - benign(0.137) tolerated(0.26) neutral(0.045) NULL LAMA3 3909 genome.wustl.edu 37 18 21447865 21447865 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_198129.1 +1 reviewed p.R1584Q 0.215 86 0% 57 31.6% - - probably_damaging(0.999) tolerated(0.12) deleterious(0.751) HMMPfam_Laminin_B,HMMSmart_SM00281 KCTD1 284252 genome.wustl.edu 37 18 24056482 24056482 + Missense_Mutation SNP G G C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001142730.1 -1 validated p.F710L 1.000 227 0% 276 36.2% - - possibly_damaging(0.876) deleterious(0) deleterious(0.786) HMMSmart_SM00225,HMMPfam_K_tetra,superfamily_POZ domain ASXL3 80816 genome.wustl.edu 37 18 31324895 31324895 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_030632.1 +1 provisional p.A1695T 0.000 112 0% 76 11.8% - - benign(0.06) deleterious(0.04) neutral(0.353) NULL NOL4 8715 genome.wustl.edu 37 18 31709966 31709966 + Missense_Mutation SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_003787.3 -1 validated p.E95K 1.000 246 0% 303 38.6% - - possibly_damaging(0.647) tolerated(0.07) deleterious(0.546) NULL ALPK2 115701 genome.wustl.edu 37 18 56149107 56149107 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_052947.3 -1 validated p.S2154F 0.023 405 0% 500 41.8% - - probably_damaging(0.984) deleterious(0.01) deleterious(0.836) NULL SERPINB4 6318 genome.wustl.edu 37 18 61310448 61310448 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_002974.2 -1 validated p.L57F 0.443 189 0% 462 39.4% - - probably_damaging(0.991) tolerated(0.14) deleterious(0.694) HMMPfam_Serpin,HMMSmart_SERPIN,superfamily_Prot_inh_serpin TSHZ1 10194 genome.wustl.edu 37 18 72999690 72999690 + Silent SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_005786.4 +1 reviewed p.K731 1.000 32 0% 16 62.5% - - - - - NULL ATP9B 374868 genome.wustl.edu 37 18 77037154 77037154 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_198531.3 +1 validated p.E457K 1.000 283 0% 187 37.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_HAD-like LPPR3 79948 genome.wustl.edu 37 19 821527 821527 + Silent SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_024888.1 -1 provisional p.P11 0.190 21 0.000 4 1.000 - - - - - NULL DPP9 91039 genome.wustl.edu 37 19 4684774 4684774 + Silent SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_139159.4 -1 reviewed p.L693 0.972 154 0% 62 38.7% - - - - - HMMPfam_Peptidase_S9,superfamily_SSF53474 ZNF557 79230 genome.wustl.edu 37 19 7081382 7081382 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001044387.1 +1 validated p.D87N 0.002 111 0% 123 44.7% - - benign(0) tolerated(0.52) neutral(0.009) HMMSmart_KRAB,superfamily_Krueppel-associated_box CERS4 79603 genome.wustl.edu 37 19 8326716 8326716 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_024552.2 +1 validated p.M331I 0.000 151 0% 93 41.9% - - benign(0) tolerated(1) - HMMSmart_SM00724 MUC16 94025 genome.wustl.edu 37 19 9085582 9085582 + Missense_Mutation SNP G G C rs34220940 TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_024690.2 -1 validated p.S2078C 0.010 86 0% 181 42.5% - - unknown(0) - - NULL ZNF441 126068 genome.wustl.edu 37 19 11890918 11890918 + Silent SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_152355.2 +1 validated p.V93 0.001 153 0% 155 41.3% - - - - - NULL ZNF69 7620 genome.wustl.edu 37 19 12016170 12016170 + Missense_Mutation SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 ENST00000429654 +1 known p.R320C 0.028 209 1% 303 41.6% - - benign(0.173) deleterious(0) neutral(0.461) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF69 7620 genome.wustl.edu 37 19 12016771 12016771 + Missense_Mutation SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 ENST00000429654 +1 known p.S520C 0.012 108 0% 154 33.8% - - possibly_damaging(0.89) tolerated(0.14) deleterious(0.599) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers CLEC17A 388512 genome.wustl.edu 37 19 14707788 14707788 + Missense_Mutation SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_207390.2 +1 validated p.F165L 0.539 368 0% 288 35.1% - - benign(0) tolerated(0.05) neutral(0.345) NULL CYP4F3 4051 genome.wustl.edu 37 19 15770099 15770099 + Silent SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_000896.2 +1 reviewed p.F489 0.977 86 0% 32 37.5% - - - - - HMMPfam_p450,superfamily_Cytochrome_P450 CYP4F12 66002 genome.wustl.edu 37 19 15791263 15791263 + Silent SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_023944.2 +1 reviewed p.P153 0.494 92 0% 75 48% - - - - - HMMPfam_p450,superfamily_Cytochrome P450 CYP4F2 8529 genome.wustl.edu 37 19 15996795 15996795 + Missense_Mutation SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001082.3 -1 reviewed p.E352Q 1.000 260 0% 176 34.7% - - benign(0.284) tolerated(0.44) neutral(0.099) HMMPfam_p450,superfamily_Cytochrome_P450 CPAMD8 27151 genome.wustl.edu 37 19 17108138 17108138 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_015692.2 -1 validated p.S340F 1.000 22 0% 20 20% - - probably_damaging(0.998) tolerated(0.7) deleterious(0.476) NULL USE1 55850 genome.wustl.edu 37 19 17326826 17326826 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_018467.3 +1 validated p.E60K 0.999 102 0% 56 41.1% - - probably_damaging(0.976) tolerated(0.05) deleterious(0.763) HMMPfam_Use1 ELL 8178 genome.wustl.edu 37 19 18632850 18632850 + Missense_Mutation SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_006532.3 -1 validated p.E6K 1.000 38 0% 13 30.8% - - possibly_damaging(0.798) deleterious(0.01) deleterious(0.706) HMMPfam_ELL GPI 2821 genome.wustl.edu 37 19 34859601 34859601 + Silent SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_000175.3 +1 reviewed p.F132 1.000 148 0% 81 33.3% - - - - - HMMPfam_PGI,superfamily_SSF53697 ZNF599 148103 genome.wustl.edu 37 19 35250968 35250968 + Missense_Mutation SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001007248.2 -1 validated p.M246I 0.618 127 0% 166 46.4% - - benign(0.013) deleterious(0.03) neutral(0.365) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers DMKN 93099 genome.wustl.edu 37 19 36004008 36004008 + Missense_Mutation SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_033317.3 -1 reviewed p.G124R 0.003 159 0.6% 80 36.2% - - benign(0.279) deleterious(0) deleterious(0.475) NULL ZNF146 7705 genome.wustl.edu 37 19 36728093 36728093 + Missense_Mutation SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001099638.1 +1 validated p.Q251E 0.193 224 0% 197 42.1% - - possibly_damaging(0.685) tolerated(0.1) deleterious(0.531) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers MAP4K1 11184 genome.wustl.edu 37 19 39090601 39090601 + Missense_Mutation SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_007181.4 -1 validated p.V545L 0.998 201 0% 122 47.5% - - benign(0) tolerated(1) - HMMPfam_CNH,HMMSmart_CNH PLEKHG2 64857 genome.wustl.edu 37 19 39904750 39904750 + Silent SNP G G C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_022835.2 +1 validated p.L8 0.001 119 0% 57 47.4% - - - - - NULL FBL 2091 genome.wustl.edu 37 19 40328355 40328355 + Silent SNP G G T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001436.3 -1 reviewed p.L226 0.982 167 0% 92 51.1% - - - - - HMMPfam_Fibrillarin,superfamily_S-adenosyl-L-methionine-dependent methyltransferases HIPK4 147746 genome.wustl.edu 37 19 40886785 40886785 + Silent SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_144685.3 -1 provisional p.L371 0.998 20 0% 12 41.7% - - - - - superfamily_Protein kinase-like (PK-like) SHKBP1 92799 genome.wustl.edu 37 19 41092786 41092786 + Missense_Mutation SNP G G C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_138392.3 +1 validated p.Q424H 1.000 47 0% 28 39.3% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMSmart_SM00320,superfamily_WD40 repeat-like ZNF526 116115 genome.wustl.edu 37 19 42728661 42728661 + Missense_Mutation SNP G G C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_133444.1 +1 provisional p.E36Q 0.889 145 0% 74 47.3% - - possibly_damaging(0.467) tolerated(0.07) deleterious(0.473) NULL ZNF526 116115 genome.wustl.edu 37 19 42729049 42729049 + Missense_Mutation SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_133444.1 +1 provisional p.S165C 0.014 85 0% 53 39.6% - - probably_damaging(0.995) deleterious(0.04) deleterious(0.806) NULL MEGF8 1954 genome.wustl.edu 37 19 42858853 42858853 + Silent SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001410.2 +1 validated p.L1308 1.000 58 0% 15 46.7% - - - - - NULL ENSG00000245602 0 genome.wustl.edu 37 19 47999013 47999013 + RNA SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 ENST00000500835 +1 known NULL 0.002 59 0% 45 48.9% - - - - - - CCDC114 93233 genome.wustl.edu 37 19 48815311 48815311 + Silent SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_144577.3 -1 validated p.I104 0.015 218 0.5% 117 42.7% - - - - - NULL PPFIA3 8541 genome.wustl.edu 37 19 49643266 49643266 + Missense_Mutation SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_003660.2 +1 reviewed p.I763M 1.000 160 0% 112 46.4% - - benign(0.216) deleterious(0) neutral(0.466) NULL ZNF600 162966 genome.wustl.edu 37 19 53269127 53269127 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_198457.2 -1 validated p.H628Y 0.042 256 0% 339 38.6% - - probably_damaging(0.999) deleterious(0.03) deleterious(0.855) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF320 162967 genome.wustl.edu 37 19 53385108 53385108 + Missense_Mutation SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_207333.2 -1 validated p.E91Q 0.000 252 0% 352 39.5% - - possibly_damaging(0.55) tolerated(0.68) neutral(0.189) NULL PRKCG 5582 genome.wustl.edu 37 19 54407963 54407963 + Silent SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_002739.3 +1 reviewed p.S577 0.796 100 0% 72 40.3% - - - - - HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase NLRP7 199713 genome.wustl.edu 37 19 55449523 55449523 + Nonsense_Mutation SNP G G C rs104895555 TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001127255.1 -1 reviewed p.S673* 0.082 86 0% 72 45.8% - - - - - superfamily_RNI-like NLRP5 126206 genome.wustl.edu 37 19 56539724 56539724 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_153447.4 +1 reviewed p.E709K 0.055 96 0% 66 48.5% - - benign(0.415) tolerated(0.51) neutral(0.144) NULL PEG3 5178 genome.wustl.edu 37 19 57326231 57326231 + Missense_Mutation SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_006210.2 -1 reviewed p.M1193I 0.000 175 0% 160 36.9% - - benign(0) tolerated(0.25) neutral(0.037) superfamily_C2H2 and C2HC zinc fingers ZNF543 125919 genome.wustl.edu 37 19 57840388 57840388 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_213598.3 +1 validated p.A520T 0.000 155 0% 134 11.2% - - benign(0) tolerated(0.4) neutral(0.016) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF549 256051 genome.wustl.edu 37 19 58049672 58049672 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_153263.1 +1 provisional p.E421K 0.000 132 0% 142 37.3% - - benign(0.062) tolerated(0.82) neutral(0.005) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers SMOX 54498 genome.wustl.edu 37 20 4162828 4162828 + Silent SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_175839.1 +1 reviewed p.I234 1.000 29 0% 21 33.3% - - - - - HMMPfam_Amino_oxidase,superfamily_FAD/NAD(P)-binding domain RIN2 54453 genome.wustl.edu 37 20 19955572 19955572 + Silent SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_018993.2 +1 reviewed p.T301 0.005 70 0% 58 46.6% - - - - - NULL C20orf3 57136 genome.wustl.edu 37 20 24959457 24959457 + Missense_Mutation SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_020531.2 -1 validated p.E92Q 0.850 149 0% 85 41.2% - - benign(0.208) tolerated(0.08) neutral(0.320) superfamily_Calcium-dependent phosphotriesterase REM1 28954 genome.wustl.edu 37 20 30064257 30064257 + Silent SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_014012.4 +1 reviewed p.L3 0.994 212 0% 112 37.5% - - - - - NULL ASXL1 171023 genome.wustl.edu 37 20 31019209 31019209 + Silent SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_015338.5 +1 reviewed p.I268 0.956 332 0.3% 232 40.5% - - - - - NULL EFCAB8 388795 genome.wustl.edu 37 20 31506195 31506195 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 ENST00000440534 +1 known p.E697K 0.000 79 0% 52 28.8% - - benign(0.002) tolerated(0.2) neutral(0.049) NULL ZNF341 84905 genome.wustl.edu 37 20 32336731 32336731 + Missense_Mutation SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_032819.3 +1 validated p.I114M 1.000 146 0% 94 35.1% - - unknown(0) deleterious(0) - NULL ZNF341 84905 genome.wustl.edu 37 20 32358025 32358025 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_032819.3 +1 validated p.D510N 1.000 58 0% 28 42.9% - - possibly_damaging(0.527) tolerated(0.32) neutral(0.202) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 CPNE1 8904 genome.wustl.edu 37 20 34220147 34220147 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_003915.4 -1 reviewed p.Q137* 1.000 269 0% 238 42.4% - - - - - superfamily_C2_CaLB NFS1 9054 genome.wustl.edu 37 20 34286509 34286509 + Missense_Mutation SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_021100.3 -1 reviewed p.G34E 0.000 40 0% 28 57.1% - - benign(0.006) tolerated(1) - NULL C20orf24 55969 genome.wustl.edu 37 20 35236138 35236138 + Silent SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_199483.1 +1 validated p.I45 1.000 754 0% 594 40.6% - - - - - HMMPfam_Rab5ip PLCG1 5335 genome.wustl.edu 37 20 39801188 39801188 + Missense_Mutation SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_002660.2 +1 reviewed p.I1011M 1.000 121 0% 91 39.6% - - probably_damaging(0.979) deleterious(0) deleterious(0.867) HMMPfam_PI-PLC-Y,HMMSmart_PLCYc,superfamily_PLC-like_Pdiesterase_TIM-brl NCOA3 8202 genome.wustl.edu 37 20 46262937 46262937 + Missense_Mutation SNP G G C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_181659.2 +1 reviewed p.Q370H 1.000 127 0% 137 44.5% - - probably_damaging(0.997) tolerated(0.33) deleterious(0.490) superfamily_PYP-like sensor domain (PAS domain) PREX1 57580 genome.wustl.edu 37 20 47248900 47248900 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_020820.3 -1 reviewed p.P1481S 0.098 54 0% 20 30% - - benign(0) tolerated(0.14) neutral(0.249) NULL DIDO1 11083 genome.wustl.edu 37 20 61510729 61510729 + Silent SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_033081.1 -1 reviewed p.R2193 0.993 12 0.000 7 0.714 - - - - - NULL RTEL1 51750 genome.wustl.edu 37 20 62293870 62293870 + Missense_Mutation SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 ENST00000508582 +1 known p.P147S 0.000 77 0% 38 52.6% - - unknown(0) - - HMMSmart_SM00488,HMMPfam_DEAD_2,superfamily_P-loop containing nucleoside triphosphate hydrolases LTN1 26046 genome.wustl.edu 37 21 30329187 30329187 + Missense_Mutation SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_015565.2 -1 validated p.K992N 0.252 217 0% 361 40.7% - - benign(0.002) tolerated(0.6) neutral(0.004) NULL KRTAP15-1 254950 genome.wustl.edu 37 21 31812702 31812702 + Silent SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_181623.1 +1 provisional p.L19 0.000 152 0% 151 29.1% - - - - - HMMPfam_PMG SCAF4 57466 genome.wustl.edu 37 21 33057472 33057472 + Missense_Mutation SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_020706.2 -1 reviewed p.R793T 1.000 153 0% 125 42.4% - - unknown(0) tolerated(0.05) - NULL COL18A1 80781 genome.wustl.edu 37 21 46900753 46900753 + Missense_Mutation SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_130444.2 +1 reviewed p.P946L 0.276 26 0.000 8 0.750 - - probably_damaging(0.994) deleterious(0.02) deleterious(0.835) NULL POTEH 23784 genome.wustl.edu 37 22 16266972 16266972 + Missense_Mutation SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001136213.1 -1 provisional p.E493Q 0.000 1731 0% 2006 11% - - probably_damaging(0.987) deleterious(0.01) deleterious(0.842) NULL OR11H1 81061 genome.wustl.edu 37 22 16449369 16449369 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001005239.1 -1 provisional p.L146F 0.980 357 0% 513 22.2% - - benign(0.004) deleterious(0) neutral(0.445) HMMPfam_7tm_1,superfamily_SSF81321 GAB4 128954 genome.wustl.edu 37 22 17443651 17443651 + Nonsense_Mutation SNP G G C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001037814.1 -1 provisional p.S566* 0.487 78 0% 39 41% - - - - - NULL SMARCB1 6598 genome.wustl.edu 37 22 24143146 24143146 + Missense_Mutation SNP G G C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_003073.3 +1 reviewed p.K126N 1.000 113 0% 75 48% - - benign(0.275) deleterious(0.01) neutral(0.435) NULL SMTN 6525 genome.wustl.edu 37 22 31500443 31500443 + Missense_Mutation SNP G G C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_134270.1 +1 reviewed p.K938N 1.000 32 0% 17 52.9% - - possibly_damaging(0.457) deleterious(0) deleterious(0.595) NULL EIF4ENIF1 56478 genome.wustl.edu 37 22 31843430 31843430 + Missense_Mutation SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_019843.3 -1 reviewed p.R657T 1.000 108 0% 120 35.8% - - probably_damaging(0.978) deleterious(0.01) deleterious(0.826) HMMPfam_EIF4E-T DEPDC5 9681 genome.wustl.edu 37 22 32242923 32242923 + Missense_Mutation SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_014662.2 +1 validated p.S1033C 0.999 79 0% 53 58.5% - - probably_damaging(1) tolerated(0.1) deleterious(0.786) NULL TCF20 6942 genome.wustl.edu 37 22 42608700 42608700 + Missense_Mutation SNP G G C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_005650.1 -1 reviewed p.S871C 1.000 85 0% 72 40.3% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL TTC38 55020 genome.wustl.edu 37 22 46671212 46671212 + Silent SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_017931.2 +1 validated p.L145 1.000 307 0% 239 42.3% - - - - - superfamily_SSF48452 TBL1X 6907 genome.wustl.edu 37 X 9682941 9682941 + Splice_Site SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001139466.1 +1 reviewed e14-1 1.000 107 0% 68 30.9% - - - - - - ARHGAP6 395 genome.wustl.edu 37 X 11682730 11682730 + Missense_Mutation SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_013427.2 -1 reviewed p.E73D 0.026 30 0% 15 60% - - possibly_damaging(0.484) deleterious(0) deleterious(0.605) NULL MAP7D2 256714 genome.wustl.edu 37 X 20033383 20033383 + Missense_Mutation SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_152780.3 -1 validated p.Q528H 0.995 327 0% 414 40.6% - - probably_damaging(0.996) deleterious(0.05) deleterious(0.807) HMMPfam_MAP7 ZNF645 158506 genome.wustl.edu 37 X 22292160 22292160 + Missense_Mutation SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_152577.2 +1 provisional p.S351F 0.016 245 0% 265 42.3% - - possibly_damaging(0.604) deleterious(0) deleterious(0.654) NULL SYTL5 94122 genome.wustl.edu 37 X 37985947 37985947 + Silent SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_138780.2 +1 reviewed p.L719 1.000 135 0% 136 41.9% - - - - - NULL DDX3X 1654 genome.wustl.edu 37 X 41202567 41202567 + Missense_Mutation SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001356.3 +1 reviewed p.I214M 1.000 263 0.4% 281 42.7% - - probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMPfam_DEAD,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases DDX3X 1654 genome.wustl.edu 37 X 41206602 41206612 + Frame_Shift_Del DEL CGACAAAGTAG CGACAAAGTAG - novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 CGACAAAGTAG CGACAAAGTAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001356.3 +1 reviewed p.Q604fs 1.000:1.000:0.894:1.000:1.000:0.999:1.000:1.000:0.929:0.998:0.998 - - - - - - - - - superfamily_P-loop containing nucleoside triphosphate hydrolases NYX 60506 genome.wustl.edu 37 X 41333723 41333723 + Missense_Mutation SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_022567.2 +1 reviewed p.C339W 0.973 24 0% 12 50% - - benign(0.002) deleterious(0.04) neutral(0.349) HMMSmart_LRRCT,superfamily_SSF52058 CASK 8573 genome.wustl.edu 37 X 41420832 41420832 + Missense_Mutation SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_003688.3 -1 reviewed p.E550K 1.000 173 0% 323 11.5% - - possibly_damaging(0.575) tolerated(0.06) deleterious(0.520) HMMPfam_PDZ,HMMSmart_PDZ,superfamily_PDZ SLC9A7 84679 genome.wustl.edu 37 X 46502767 46502767 + Missense_Mutation SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_032591.1 -1 reviewed p.R506H 1.000 67 0% 81 38.3% - - benign(0.012) deleterious(0.02) neutral(0.384) HMMPfam_Na_H_Exchanger ZNF630 57232 genome.wustl.edu 37 X 47918822 47918822 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001037735.2 -1 validated p.H337Y 0.997 101 0% 161 39.8% - - possibly_damaging(0.946) deleterious(0) deleterious(0.835) HMMSmart_ZnF_C2H2,superfamily_SSF57667 GRIPAP1 56850 genome.wustl.edu 37 X 48853752 48853752 + Silent SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_020137.3 -1 reviewed p.L72 1.000 135 0% 132 42.4% - - - - - NULL PRICKLE3 4007 genome.wustl.edu 37 X 49034794 49034794 + Missense_Mutation SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_006150.3 -1 reviewed p.A199T 0.937 80 0% 53 41.5% - - possibly_damaging(0.906) tolerated(0.06) deleterious(0.682) HMMPfam_LIM,HMMSmart_SM00132,PatternScan_LIM_DOMAIN_1 CACNA1F 778 genome.wustl.edu 37 X 49061797 49061797 + Missense_Mutation SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_005183.2 -1 reviewed p.A1912P 1.000 56 0% 29 31% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL MAGED1 9500 genome.wustl.edu 37 X 51640666 51640666 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001005333.1 +1 reviewed p.E560K 1.000 291 0% 203 40.9% - - unknown(0) tolerated(0.08) - HMMPfam_MAGE KDM5C 8242 genome.wustl.edu 37 X 53223485 53223490 + In_Frame_Del DEL CGCGGC CGCGGC - novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 CGCGGC CGCGGC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_004187.3 -1 reviewed p.GR1290in_frame_del 1.000:0.982:1.000:1.000:1.000:1.000 - - - - - - - - - NULL FAM120C 54954 genome.wustl.edu 37 X 54185831 54185831 + Missense_Mutation SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_017848.4 -1 validated p.M306I 0.998 150 0% 162 38.3% - - benign(0.004) tolerated(0.17) neutral(0.059) NULL FGD1 2245 genome.wustl.edu 37 X 54496462 54496462 + Missense_Mutation SNP T T A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_004463.2 -1 reviewed p.Q363L 1.000 71 0% 36 47.2% - - benign(0) tolerated(0.05) neutral(0.345) superfamily_DH-domain ALAS2 212 genome.wustl.edu 37 X 55054238 55054238 + Missense_Mutation SNP C C G rs189947718 by1000genomes TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001037968.3 -1 reviewed p.M1I 0.001 287 0% 300 42.7% - - benign(0.001) - - NULL ASB12 142689 genome.wustl.edu 37 X 63445468 63445468 + Silent SNP G G T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_130388.2 -1 reviewed p.L12 1.000 114 0% 96 37.5% - - - - - NULL DGAT2L6 347516 genome.wustl.edu 37 X 69420156 69420156 + Missense_Mutation SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_198512.1 +1 provisional p.H107D 1.000 258 0% 359 39% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DAGAT SLC7A3 84889 genome.wustl.edu 37 X 70147824 70147824 + Silent SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001048164.2 -1 reviewed p.V289 0.998 323 0% 248 36.7% - - - - - HMMPfam_AA_permease MED12 9968 genome.wustl.edu 37 X 70346843 70346843 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_005120.2 +1 reviewed p.E904K 1.000 222 0% 145 38.6% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL NLGN3 54413 genome.wustl.edu 37 X 70368014 70368014 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_018977.3 +1 reviewed p.E139K 1.000 65 0% 29 34.5% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_COesterase,PatternScan_CARBOXYLESTERASE_B_2,superfamily_SSF53474 PHKA1 5255 genome.wustl.edu 37 X 71802449 71802449 + Splice_Site SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_002637.3 -1 reviewed e31-1 1.000 109 0% 121 45.5% - - - - - - MAGEE2 139599 genome.wustl.edu 37 X 75003800 75003800 + Missense_Mutation SNP A A G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_138703.4 -1 validated p.F363L 0.995 89 0% 131 34.4% - - benign(0.425) tolerated(0.1) neutral(0.424) HMMPfam_MAGE MAGT1 84061 genome.wustl.edu 37 X 77112895 77112895 + Missense_Mutation SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_032121.5 -1 reviewed p.E196K 1.000 253 0% 243 40.3% - - probably_damaging(0.997) deleterious(0.01) deleterious(0.872) HMMPfam_OST3_OST6,superfamily_Thioredoxin-like HDX 139324 genome.wustl.edu 37 X 83581275 83581275 + Missense_Mutation SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_144657.4 -1 validated p.E620K 1.000 188 0% 378 38.4% - - benign(0.39) deleterious(0.02) deleterious(0.508) NULL BTK 695 genome.wustl.edu 37 X 100630195 100630195 + Missense_Mutation SNP C C A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_000061.2 -1 reviewed p.K26N 1.000 327 0% 423 36.9% - - unknown(0) deleterious(0) - HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729 NRK 203447 genome.wustl.edu 37 X 105169015 105169015 + Silent SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_198465.2 +1 validated p.L1102 0.114 84 0% 152 41.4% - - - - - NULL IL13RA2 3598 genome.wustl.edu 37 X 114251804 114251804 + Missense_Mutation SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_000640.2 -1 reviewed p.C10Y 0.002 163 0% 267 31.1% - - possibly_damaging(0.504) tolerated(0.33) neutral(0.193) NULL DOCK11 139818 genome.wustl.edu 37 X 117706307 117706307 + Missense_Mutation SNP G G C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_144658.3 +1 validated p.E353Q 1.000 199 0% 256 38.7% - - probably_damaging(1) tolerated(0.17) deleterious(0.559) NULL PHF6 84295 genome.wustl.edu 37 X 133511652 133511652 + Nonsense_Mutation SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001015877.1 +1 reviewed p.S2* 1.000 145 0% 150 42.7% - - - - - NULL FHL1 2273 genome.wustl.edu 37 X 135290662 135290662 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001449.4 +1 reviewed p.D184N 1.000 144 0% 130 40.8% - - benign(0.041) deleterious(0) neutral(0.447) HMMPfam_LIM,HMMSmart_SM00132,PatternScan_LIM_DOMAIN_1,superfamily_Glucocorticoid receptor-like (DNA-binding domain) MAP7D3 79649 genome.wustl.edu 37 X 135303101 135303101 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_024597.3 -1 reviewed p.S770L 0.000 371 0% 376 37.2% - - benign(0.04) tolerated(0.16) neutral(0.062) NULL MCF2 4168 genome.wustl.edu 37 X 138667242 138667242 + Missense_Mutation SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001099855.1 -1 reviewed p.E970Q 1.000 191 0% 529 39.7% - - probably_damaging(1) tolerated(0.17) deleterious(0.559) NULL MAGEC3 139081 genome.wustl.edu 37 X 140984703 140984703 + Missense_Mutation SNP C C G novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_138702.1 +1 reviewed p.L387V 0.011 261 0% 220 41.4% - - unknown(0) tolerated(0.42) - NULL GABRQ 55879 genome.wustl.edu 37 X 151821187 151821187 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_018558.2 +1 reviewed p.E448K 0.259 81 0% 51 43.1% - - possibly_damaging(0.653) deleterious(0) deleterious(0.674) HMMPfam_Neur_chan_memb,superfamily_Neu_channel_TM SLC6A8 6535 genome.wustl.edu 37 X 152959567 152959567 + Missense_Mutation SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 ENST00000328897 +1 known p.E454K 0.007 69 0% 27 44.4% - - benign(0.036) deleterious(0) neutral(0.447) HMMPfam_SNF HCFC1 3054 genome.wustl.edu 37 X 153215749 153215749 + Silent SNP G G A novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 ENST00000444191 -1 known p.R559C 0.151 165 0% 57 45.6% - - - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III FLNA 2316 genome.wustl.edu 37 X 153587496 153587496 + Missense_Mutation SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_001110556.1 -1 reviewed p.D1444N 1.000 77 0% 30 30% - - possibly_damaging(0.952) tolerated(0.13) deleterious(0.648) HMMSmart_SM00557,superfamily_E set domains F8 2157 genome.wustl.edu 37 X 154185326 154185326 + Missense_Mutation SNP G G C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_000132.3 -1 reviewed p.S553C 0.996 404 0% 427 42.4% - - probably_damaging(1) tolerated(0.14) deleterious(0.750) superfamily_Cupredoxins BRCC3 79184 genome.wustl.edu 37 X 154345003 154345003 + Missense_Mutation SNP C C T novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_024332.2 +1 reviewed p.S258L 1.000 268 0% 418 37.6% - - possibly_damaging(0.832) tolerated(0.67) neutral(0.320) NULL SPRY3 10251 genome.wustl.edu 37 X 155004349 155004349 + Missense_Mutation SNP G G C novel TCGA-B5-A11R-01A-11D-A122-09 TCGA-B5-A11R-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef2675cf-4d5b-4dcd-a0c9-c0c67059ea34 74ff4e7e-9b8b-40cb-8d05-bf5c2ac2cdc0 NM_005840.1 +1 validated p.K272N 0.962 163 0% 120 32.5% - - possibly_damaging(0.903) deleterious(0.01) deleterious(0.764) NULL