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 NPHP4 261734 genome.wustl.edu 37 1 6046286 6046286 + Missense_Mutation SNP G G A novel TCGA-A5-A0RA-01A-21D-A10B-09 TCGA-A5-A0RA-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 96440783-e5f9-47ae-909b-9c2c94d6a61e 55b9fa2c-f017-4dd4-b64e-0723dedb580a NM_015102.2 -1 reviewed p.R22C 0.912 121 0% 186 28% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL CD101 9398 genome.wustl.edu 37 1 117552822 117552822 + Missense_Mutation SNP G G A novel TCGA-A5-A0RA-01A-21D-A10B-09 TCGA-A5-A0RA-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 96440783-e5f9-47ae-909b-9c2c94d6a61e 55b9fa2c-f017-4dd4-b64e-0723dedb580a NM_004258.3 +1 validated p.G132R 0.996 78 0% 98 27.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_IG,HMMPfam_V-set,superfamily_SSF48726 POGZ 23126 genome.wustl.edu 37 1 151413464 151413465 + In_Frame_Ins INS - - GCT novel TCGA-A5-A0RA-01A-21D-A10B-09 TCGA-A5-A0RA-10A-01D-A10B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 96440783-e5f9-47ae-909b-9c2c94d6a61e 55b9fa2c-f017-4dd4-b64e-0723dedb580a NM_015100.2 -1 reviewed p.74in_frame_insS 1.000:1.000 - - - - - - - - - NULL LPGAT1 9926 genome.wustl.edu 37 1 211924348 211924348 + Missense_Mutation SNP G G A novel TCGA-A5-A0RA-01A-21D-A10B-09 TCGA-A5-A0RA-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 96440783-e5f9-47ae-909b-9c2c94d6a61e 55b9fa2c-f017-4dd4-b64e-0723dedb580a NM_014873.2 -1 validated p.R306W 0.892 172 0% 162 32.1% 1 100% probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL RAD51AP2 729475 genome.wustl.edu 37 2 17697644 17697644 + Missense_Mutation SNP G G A rs187028078 by1000genomes TCGA-A5-A0RA-01A-21D-A10B-09 TCGA-A5-A0RA-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 96440783-e5f9-47ae-909b-9c2c94d6a61e 55b9fa2c-f017-4dd4-b64e-0723dedb580a NM_001099218.2 -1 provisional p.P680L 0.691 52 0% 37 21.6% 0 - benign(0.188) deleterious(0) neutral(0.462) NULL NRXN1 9378 genome.wustl.edu 37 2 50779958 50779958 + Missense_Mutation SNP C C T novel TCGA-A5-A0RA-01A-21D-A10B-09 TCGA-A5-A0RA-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 96440783-e5f9-47ae-909b-9c2c94d6a61e 55b9fa2c-f017-4dd4-b64e-0723dedb580a NM_001135659.1 -1 reviewed p.R549H 1.000 308 0% 297 29.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_LamG,superfamily_ConA_like_lec_gl,HMMPfam_Laminin_G_2 LOC100133109 100133109 genome.wustl.edu 37 2 175584672 175584672 + Silent SNP G G A novel TCGA-A5-A0RA-01A-21D-A10B-09 TCGA-A5-A0RA-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 96440783-e5f9-47ae-909b-9c2c94d6a61e 55b9fa2c-f017-4dd4-b64e-0723dedb580a XM_001716442.2 -1 model p.T102 1.000 61 0% 62 27.4% 98 0% - - - NULL DNAH7 56171 genome.wustl.edu 37 2 196736991 196736991 + Frame_Shift_Del DEL G G - novel TCGA-A5-A0RA-01A-21D-A10B-09 TCGA-A5-A0RA-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 96440783-e5f9-47ae-909b-9c2c94d6a61e 55b9fa2c-f017-4dd4-b64e-0723dedb580a NM_018897.2 -1 validated p.R2206fs 1.000 - - - - - - - - - superfamily_P-loop containing nucleoside triphosphate hydrolases PIKFYVE 200576 genome.wustl.edu 37 2 209166994 209166994 + Missense_Mutation SNP A A G novel TCGA-A5-A0RA-01A-21D-A10B-09 TCGA-A5-A0RA-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 96440783-e5f9-47ae-909b-9c2c94d6a61e 55b9fa2c-f017-4dd4-b64e-0723dedb580a NM_015040.3 +1 reviewed p.M413V 0.870 184 0% 189 25.4% 0 - benign(0.025) deleterious(0.02) neutral(0.384) "HMMPfam_DEP,HMMSmart_SM00049,superfamily_""Winged helix"" DNA-binding domain" SLC19A3 80704 genome.wustl.edu 37 2 228563569 228563569 + Missense_Mutation SNP C C T novel TCGA-A5-A0RA-01A-21D-A10B-09 TCGA-A5-A0RA-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 96440783-e5f9-47ae-909b-9c2c94d6a61e 55b9fa2c-f017-4dd4-b64e-0723dedb580a NM_025243.3 -1 reviewed p.A288T 0.941 86 0% 86 40.7% 0 - possibly_damaging(0.819) tolerated(0.08) deleterious(0.609) HMMPfam_Folate_carrier,superfamily_MFS_gen_substrate_transporter UBE2E1 7324 genome.wustl.edu 37 3 23930625 23930625 + Missense_Mutation SNP A A G novel TCGA-A5-A0RA-01A-21D-A10B-09 TCGA-A5-A0RA-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 96440783-e5f9-47ae-909b-9c2c94d6a61e 55b9fa2c-f017-4dd4-b64e-0723dedb580a NM_003341.3 +1 reviewed p.Y120C 1.000 328 0% 319 31.7% 25 32% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_UQ_con,HMMSmart_SM00212,PatternScan_UBIQUITIN_CONJUGAT_1,superfamily_UBC-like EPHA3 2042 genome.wustl.edu 37 3 89456440 89456440 + Missense_Mutation SNP G G A novel TCGA-A5-A0RA-01A-21D-A10B-09 TCGA-A5-A0RA-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 96440783-e5f9-47ae-909b-9c2c94d6a61e 55b9fa2c-f017-4dd4-b64e-0723dedb580a NM_005233.5 +1 reviewed p.S539N 0.990 297 0% 260 23.8% 0 - benign(0) tolerated(0.62) neutral(0.004) NULL PIK3CA 5290 genome.wustl.edu 37 3 178916643 178916666 + In_Frame_Del DEL GTGGGGCATCCACTTGATGCCCCC GTGGGGCATCCACTTGATGCCCCC - novel TCGA-A5-A0RA-01A-21D-A10B-09 TCGA-A5-A0RA-10A-01D-A10B-09 GTGGGGCATCCACTTGATGCCCCC GTGGGGCATCCACTTGATGCCCCC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 96440783-e5f9-47ae-909b-9c2c94d6a61e 55b9fa2c-f017-4dd4-b64e-0723dedb580a NM_006218.2 +1 reviewed p.WGIHLMPP11in_frame_del 1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000 - - - - - - - - - NULL PIK3CA 5290 genome.wustl.edu 37 3 178916957 178916957 + Missense_Mutation SNP G G T novel TCGA-A5-A0RA-01A-21D-A10B-09 TCGA-A5-A0RA-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 96440783-e5f9-47ae-909b-9c2c94d6a61e 55b9fa2c-f017-4dd4-b64e-0723dedb580a NM_006218.2 +1 reviewed p.R115L 1.000 76 0% 47 40.4% 0 - possibly_damaging(0.948) tolerated(0.31) neutral(0.418) superfamily_SSF54236 DOCK2 1794 genome.wustl.edu 37 5 169508861 169508861 + Missense_Mutation SNP T T C novel TCGA-A5-A0RA-01A-21D-A10B-09 TCGA-A5-A0RA-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 96440783-e5f9-47ae-909b-9c2c94d6a61e 55b9fa2c-f017-4dd4-b64e-0723dedb580a NM_004946.2 +1 validated p.V1768A 0.061 85 0% 124 22.6% 0 - benign(0.178) deleterious(0.04) neutral(0.365) NULL FGFR4 2264 genome.wustl.edu 37 5 176517136 176517137 + Frame_Shift_Ins INS - - GTGT rs111413202 TCGA-A5-A0RA-01A-21D-A10B-09 TCGA-A5-A0RA-10A-01D-A10B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 96440783-e5f9-47ae-909b-9c2c94d6a61e 55b9fa2c-f017-4dd4-b64e-0723dedb580a ENST00000377207 +1 known p.V27fs 0.008:0.012 - - - - - - - - - NULL PHACTR1 221692 genome.wustl.edu 37 6 13228267 13228267 + Silent SNP C C T novel TCGA-A5-A0RA-01A-21D-A10B-09 TCGA-A5-A0RA-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 96440783-e5f9-47ae-909b-9c2c94d6a61e 55b9fa2c-f017-4dd4-b64e-0723dedb580a ENST00000415087 +1 known p.T237M 0.006 142 0% 139 14.4% 0 - - - - NULL NOTCH4 4855 genome.wustl.edu 37 6 32191659 32191661 + In_Frame_Del DEL AGC AGC - rs72110219 TCGA-A5-A0RA-01A-21D-A10B-09 TCGA-A5-A0RA-10A-01D-A10B-09 AGC AGC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 96440783-e5f9-47ae-909b-9c2c94d6a61e 55b9fa2c-f017-4dd4-b64e-0723dedb580a NM_004557.3 -1 reviewed p.L16in_frame_del 0.003:0.005:0.005 - - - - - - - - - NULL C6orf1 221491 genome.wustl.edu 37 6 34214372 34214372 + Silent SNP G G C novel TCGA-A5-A0RA-01A-21D-A10B-09 TCGA-A5-A0RA-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 96440783-e5f9-47ae-909b-9c2c94d6a61e 55b9fa2c-f017-4dd4-b64e-0723dedb580a NM_001008703.1 -1 validated p.L133 0.000 53 0% 61 24.6% 8 50% - - - NULL RIMS1 22999 genome.wustl.edu 37 6 72960118 72960118 + Missense_Mutation SNP G G A novel TCGA-A5-A0RA-01A-21D-A10B-09 TCGA-A5-A0RA-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 96440783-e5f9-47ae-909b-9c2c94d6a61e 55b9fa2c-f017-4dd4-b64e-0723dedb580a NM_014989.4 +1 reviewed p.R776H 1.000 123 0% 133 35.3% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) GPRC6A 222545 genome.wustl.edu 37 6 117127588 117127588 + Missense_Mutation SNP C C T novel TCGA-A5-A0RA-01A-21D-A10B-09 TCGA-A5-A0RA-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 96440783-e5f9-47ae-909b-9c2c94d6a61e 55b9fa2c-f017-4dd4-b64e-0723dedb580a NM_148963.2 -1 validated p.R427Q 0.790 84 0% 63 31.7% 0 - benign(0.002) tolerated(1) - HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like I UTRN 7402 genome.wustl.edu 37 6 145069633 145069633 + Missense_Mutation SNP C C A novel TCGA-A5-A0RA-01A-21D-A10B-09 TCGA-A5-A0RA-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 96440783-e5f9-47ae-909b-9c2c94d6a61e 55b9fa2c-f017-4dd4-b64e-0723dedb580a NM_007124.2 +1 reviewed p.H2731N 1.000 102 0% 118 25.4% 1 0% possibly_damaging(0.95) tolerated(0.09) deleterious(0.690) HMMPfam_Spectrin,HMMSmart_SPEC,superfamily_Spectrin C6orf211 79624 genome.wustl.edu 37 6 151789718 151789718 + Missense_Mutation SNP G G A novel TCGA-A5-A0RA-01A-21D-A10B-09 TCGA-A5-A0RA-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 96440783-e5f9-47ae-909b-9c2c94d6a61e 55b9fa2c-f017-4dd4-b64e-0723dedb580a NM_024573.1 +1 predicted p.D267N 0.981 235 0% 232 28.4% 6 33.3% benign(0.025) tolerated(0.2) neutral(0.050) HMMPfam_DUF89,superfamily_DUF89 THSD7A 221981 genome.wustl.edu 37 7 11513968 11513968 + Missense_Mutation SNP G G T novel TCGA-A5-A0RA-01A-21D-A10B-09 TCGA-A5-A0RA-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 96440783-e5f9-47ae-909b-9c2c94d6a61e 55b9fa2c-f017-4dd4-b64e-0723dedb580a NM_015204.2 -1 validated p.P749T 1.000 139 0% 133 11.3% 1 0% probably_damaging(1) tolerated(0.76) deleterious(0.501) HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat PPP1R3A 5506 genome.wustl.edu 37 7 113519690 113519690 + Missense_Mutation SNP C C T novel TCGA-A5-A0RA-01A-21D-A10B-09 TCGA-A5-A0RA-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 96440783-e5f9-47ae-909b-9c2c94d6a61e 55b9fa2c-f017-4dd4-b64e-0723dedb580a NM_002711.3 -1 reviewed p.R486Q 0.000 74 0% 49 20.4% 0 - possibly_damaging(0.904) deleterious(0.02) deleterious(0.742) NULL CADPS2 93664 genome.wustl.edu 37 7 122261573 122261573 + Silent SNP G G A novel TCGA-A5-A0RA-01A-21D-A10B-09 TCGA-A5-A0RA-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 96440783-e5f9-47ae-909b-9c2c94d6a61e 55b9fa2c-f017-4dd4-b64e-0723dedb580a ENST00000397721 -1 known p.A4V 1.000 165 0% 132 32.6% 0 - - - - NULL PTK2B 2185 genome.wustl.edu 37 8 27308361 27308361 + Silent SNP G G A novel TCGA-A5-A0RA-01A-21D-A10B-09 TCGA-A5-A0RA-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 96440783-e5f9-47ae-909b-9c2c94d6a61e 55b9fa2c-f017-4dd4-b64e-0723dedb580a NM_004103.3 +1 reviewed p.Q812 1.000 150 0% 155 25.8% 3 0% - - - NULL IL2RA 3559 genome.wustl.edu 37 10 6067886 6067886 + Missense_Mutation SNP C C T novel TCGA-A5-A0RA-01A-21D-A10B-09 TCGA-A5-A0RA-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 96440783-e5f9-47ae-909b-9c2c94d6a61e 55b9fa2c-f017-4dd4-b64e-0723dedb580a NM_000417.2 -1 reviewed p.R56H 0.937 200 0% 243 29.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Sushi,HMMSmart_CCP ARID5B 84159 genome.wustl.edu 37 10 63845543 63845543 + Frame_Shift_Del DEL A A - novel TCGA-A5-A0RA-01A-21D-A10B-09 TCGA-A5-A0RA-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 96440783-e5f9-47ae-909b-9c2c94d6a61e 55b9fa2c-f017-4dd4-b64e-0723dedb580a NM_032199.2 +1 validated p.S428fs 1.000 - - - - - - - - - NULL PTEN 5728 genome.wustl.edu 37 10 89685315 89685318 + Splice_Site DEL GTAA GTAA - novel TCGA-A5-A0RA-01A-21D-A10B-09 TCGA-A5-A0RA-10A-01D-A10B-09 GTAA GTAA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 96440783-e5f9-47ae-909b-9c2c94d6a61e 55b9fa2c-f017-4dd4-b64e-0723dedb580a ENST00000371953 +1 known e3+1 1.000:1.000 - - - - - - - - - - PTEN 5728 genome.wustl.edu 37 10 89692904 89692904 + Missense_Mutation SNP C C G rs121909224 byCluster TCGA-A5-A0RA-01A-21D-A10B-09 TCGA-A5-A0RA-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 96440783-e5f9-47ae-909b-9c2c94d6a61e 55b9fa2c-f017-4dd4-b64e-0723dedb580a ENST00000371953 +1 known p.R130G 1.000 184 0% 229 28.8% 17 17.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DSPc,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1,superfamily_(Phosphotyrosine protein) phosphatases II HPS1 3257 genome.wustl.edu 37 10 100195417 100195417 + Missense_Mutation SNP C C A novel TCGA-A5-A0RA-01A-21D-A10B-09 TCGA-A5-A0RA-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 96440783-e5f9-47ae-909b-9c2c94d6a61e 55b9fa2c-f017-4dd4-b64e-0723dedb580a NM_000195.2 -1 reviewed p.G77V 0.002 107 0% 102 23.5% 10 40% possibly_damaging(0.885) deleterious(0) deleterious(0.790) NULL BEST1 7439 genome.wustl.edu 37 11 61729876 61729876 + Missense_Mutation SNP G G A novel TCGA-A5-A0RA-01A-21D-A10B-09 TCGA-A5-A0RA-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 96440783-e5f9-47ae-909b-9c2c94d6a61e 55b9fa2c-f017-4dd4-b64e-0723dedb580a NM_001139443.1 +1 reviewed p.R357K 0.975 84 0% 102 23.5% 0 - benign(0) tolerated(1) - NULL C11orf75 56935 genome.wustl.edu 37 11 93212301 93212301 + Missense_Mutation SNP G G A rs140592708 by1000genomes TCGA-A5-A0RA-01A-21D-A10B-09 TCGA-A5-A0RA-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 96440783-e5f9-47ae-909b-9c2c94d6a61e 55b9fa2c-f017-4dd4-b64e-0723dedb580a NM_020179.2 -1 validated p.R19W 1.000 223 0% 273 21.6% 0 - unknown(0) - - NULL BCL9L 283149 genome.wustl.edu 37 11 118769751 118769751 + Silent SNP G G A novel TCGA-A5-A0RA-01A-21D-A10B-09 TCGA-A5-A0RA-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 96440783-e5f9-47ae-909b-9c2c94d6a61e 55b9fa2c-f017-4dd4-b64e-0723dedb580a NM_182557.2 -1 validated p.D1291 0.006 33 0% 47 36.2% 0 - - - - NULL CLEC4A 50856 genome.wustl.edu 37 12 8290774 8290774 + Missense_Mutation SNP G G A novel TCGA-A5-A0RA-01A-21D-A10B-09 TCGA-A5-A0RA-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 96440783-e5f9-47ae-909b-9c2c94d6a61e 55b9fa2c-f017-4dd4-b64e-0723dedb580a NM_016184.3 +1 reviewed p.R202H 0.002 155 0% 268 30.2% 1 100% probably_damaging(0.982) tolerated(0.13) deleterious(0.679) HMMPfam_Lectin_C,HMMSmart_SM00034,superfamily_C-type lectin-like GRIN2B 2904 genome.wustl.edu 37 12 13724779 13724779 + Missense_Mutation SNP G G C novel TCGA-A5-A0RA-01A-21D-A10B-09 TCGA-A5-A0RA-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 96440783-e5f9-47ae-909b-9c2c94d6a61e 55b9fa2c-f017-4dd4-b64e-0723dedb580a NM_000834.3 -1 reviewed p.N710K 1.000 292 0% 344 27% 0 - benign(0.249) deleterious(0.01) neutral(0.431) HMMPfam_Lig_chan,HMMSmart_PBPe,superfamily_SSF53850 HOXC13 3229 genome.wustl.edu 37 12 54332733 54332734 + In_Frame_Ins INS - - TTA novel TCGA-A5-A0RA-01A-21D-A10B-09 TCGA-A5-A0RA-10A-01D-A10B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 96440783-e5f9-47ae-909b-9c2c94d6a61e 55b9fa2c-f017-4dd4-b64e-0723dedb580a NM_017410.2 +1 reviewed p.16in_frame_insI 1.000:1.000 - - - - - - - - - NULL RNF41 10193 genome.wustl.edu 37 12 56604261 56604261 + Missense_Mutation SNP G G C novel TCGA-A5-A0RA-01A-21D-A10B-09 TCGA-A5-A0RA-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 96440783-e5f9-47ae-909b-9c2c94d6a61e 55b9fa2c-f017-4dd4-b64e-0723dedb580a NM_005785.2 -1 reviewed p.T61R 1.000 56 0% 83 31.3% 5 40% probably_damaging(0.998) deleterious(0.03) deleterious(0.839) superfamily_RING/U-box LRP1 4035 genome.wustl.edu 37 12 57588868 57588868 + Silent SNP C C T novel TCGA-A5-A0RA-01A-21D-A10B-09 TCGA-A5-A0RA-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 96440783-e5f9-47ae-909b-9c2c94d6a61e 55b9fa2c-f017-4dd4-b64e-0723dedb580a NM_002332.2 +1 reviewed p.D2764 0.988 100 0% 119 31.1% 1 100% - - - HMMPfam_Ldl_recept_a,HMMSmart_SM00192,PatternScan_LDLRA_1,superfamily_LDL receptor-like module,HMMSmart_SM00181,superfamily_YWTD domain FGD6 55785 genome.wustl.edu 37 12 95546729 95546729 + Missense_Mutation SNP G G A novel TCGA-A5-A0RA-01A-21D-A10B-09 TCGA-A5-A0RA-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 96440783-e5f9-47ae-909b-9c2c94d6a61e 55b9fa2c-f017-4dd4-b64e-0723dedb580a NM_018351.3 -1 validated p.A876V 1.000 339 0% 380 28.9% 0 - probably_damaging(0.994) tolerated(0.09) deleterious(0.748) HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain) NBEA 26960 genome.wustl.edu 37 13 36229790 36229790 + Missense_Mutation SNP G G T novel TCGA-A5-A0RA-01A-21D-A10B-09 TCGA-A5-A0RA-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 96440783-e5f9-47ae-909b-9c2c94d6a61e 55b9fa2c-f017-4dd4-b64e-0723dedb580a NM_015678.4 +1 validated p.G2735W 1.000 234 0% 229 25.3% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 CYSLTR2 57105 genome.wustl.edu 37 13 49281768 49281768 + Missense_Mutation SNP C C T novel TCGA-A5-A0RA-01A-21D-A10B-09 TCGA-A5-A0RA-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 96440783-e5f9-47ae-909b-9c2c94d6a61e 55b9fa2c-f017-4dd4-b64e-0723dedb580a NM_020377.2 +1 reviewed p.T272M 0.000 227 0% 235 29.8% 1 0% benign(0) tolerated(0.25) neutral(0.037) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like ATP7B 540 genome.wustl.edu 37 13 52532604 52532604 + Missense_Mutation SNP A A C novel TCGA-A5-A0RA-01A-21D-A10B-09 TCGA-A5-A0RA-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 96440783-e5f9-47ae-909b-9c2c94d6a61e 55b9fa2c-f017-4dd4-b64e-0723dedb580a NM_000053.2 -1 reviewed p.I733S 1.000 109 0% 137 26.3% 1 0% probably_damaging(0.978) deleterious(0) deleterious(0.865) NULL GAS6 2621 genome.wustl.edu 37 13 114531567 114531567 + Missense_Mutation SNP G G T novel TCGA-A5-A0RA-01A-21D-A10B-09 TCGA-A5-A0RA-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 96440783-e5f9-47ae-909b-9c2c94d6a61e 55b9fa2c-f017-4dd4-b64e-0723dedb580a NM_000820.2 -1 reviewed p.L421M 1.000 114 0% 143 28% 15 26.6% possibly_damaging(0.874) deleterious(0.01) deleterious(0.745) HMMSmart_LamG,superfamily_ConA_like_lec_gl,HMMPfam_Laminin_G_2 SSTR1 6751 genome.wustl.edu 37 14 38679208 38679208 + Missense_Mutation SNP C C A novel TCGA-A5-A0RA-01A-21D-A10B-09 TCGA-A5-A0RA-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 96440783-e5f9-47ae-909b-9c2c94d6a61e 55b9fa2c-f017-4dd4-b64e-0723dedb580a NM_001049.2 +1 reviewed p.T205K 1.000 96 0% 131 32.8% 0 - benign(0.146) tolerated(0.32) neutral(0.037) HMMPfam_7tm_1,superfamily_SSF81321 NAA30 122830 genome.wustl.edu 37 14 57876098 57876098 + Missense_Mutation SNP T T C novel TCGA-A5-A0RA-01A-21D-A10B-09 TCGA-A5-A0RA-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 96440783-e5f9-47ae-909b-9c2c94d6a61e 55b9fa2c-f017-4dd4-b64e-0723dedb580a NM_001011713.2 +1 validated p.V318A 1.000 106 0.9% 107 35.5% 1 100% probably_damaging(0.998) deleterious(0.02) deleterious(0.857) HMMPfam_Acetyltransf_1,superfamily_Acyl-CoA N-acyltransferases (Nat) SPTB 6710 genome.wustl.edu 37 14 65234392 65234392 + Missense_Mutation SNP T T C novel TCGA-A5-A0RA-01A-21D-A10B-09 TCGA-A5-A0RA-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 96440783-e5f9-47ae-909b-9c2c94d6a61e 55b9fa2c-f017-4dd4-b64e-0723dedb580a NM_001024858.2 -1 reviewed p.K2070E 1.000 69 0% 80 31.2% 0 - benign(0.158) deleterious(0.01) neutral(0.420) HMMPfam_Spectrin,HMMSmart_SPEC,superfamily_Spectrin CCPG1 9236 genome.wustl.edu 37 15 55652689 55652689 + Missense_Mutation SNP G G A novel TCGA-A5-A0RA-01A-21D-A10B-09 TCGA-A5-A0RA-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 96440783-e5f9-47ae-909b-9c2c94d6a61e 55b9fa2c-f017-4dd4-b64e-0723dedb580a NM_004748.3 -1 validated p.R428W 0.182 227 0.4% 307 27.7% 5 20% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) NULL NR2E3 10002 genome.wustl.edu 37 15 72106359 72106359 + Missense_Mutation SNP G G A novel TCGA-A5-A0RA-01A-21D-A10B-09 TCGA-A5-A0RA-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 96440783-e5f9-47ae-909b-9c2c94d6a61e 55b9fa2c-f017-4dd4-b64e-0723dedb580a NM_014249.2 +1 reviewed p.R334Q 0.732 41 0% 58 22.4% 1 100% probably_damaging(0.993) deleterious(0.01) deleterious(0.856) HMMPfam_Hormone_recep,HMMSmart_SM00430,superfamily_Nuclear receptor ligand-binding domain IREB2 3658 genome.wustl.edu 37 15 78770699 78770699 + Missense_Mutation SNP G G A novel TCGA-A5-A0RA-01A-21D-A10B-09 TCGA-A5-A0RA-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 96440783-e5f9-47ae-909b-9c2c94d6a61e 55b9fa2c-f017-4dd4-b64e-0723dedb580a NM_004136.2 +1 validated p.R419Q 1.000 179 0% 206 24.8% 0 - probably_damaging(1) tolerated(0.08) deleterious(0.800) HMMPfam_Aconitase,superfamily_Aconitase iron-sulfur domain MYH11 4629 genome.wustl.edu 37 16 15847282 15847282 + Silent SNP G G A novel TCGA-A5-A0RA-01A-21D-A10B-09 TCGA-A5-A0RA-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 96440783-e5f9-47ae-909b-9c2c94d6a61e 55b9fa2c-f017-4dd4-b64e-0723dedb580a NM_001040114.1 -1 reviewed p.S618 0.034 188 0% 262 33.2% 1 0% - - - HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540 KAT8 84148 genome.wustl.edu 37 16 31138400 31138400 + Missense_Mutation SNP G G T novel TCGA-A5-A0RA-01A-21D-A10B-09 TCGA-A5-A0RA-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 96440783-e5f9-47ae-909b-9c2c94d6a61e 55b9fa2c-f017-4dd4-b64e-0723dedb580a NM_182958.2 +1 validated p.E169D 0.832 103 0% 129 33.3% 9 55.5% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL ITGAX 3687 genome.wustl.edu 37 16 31391380 31391380 + Silent SNP C C T novel TCGA-A5-A0RA-01A-21D-A10B-09 TCGA-A5-A0RA-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 96440783-e5f9-47ae-909b-9c2c94d6a61e 55b9fa2c-f017-4dd4-b64e-0723dedb580a NM_000887.3 +1 reviewed p.P1018 0.022 49 0% 62 38.7% 0 - - - - HMMPfam_Integrin_alpha2 ZNF423 23090 genome.wustl.edu 37 16 49672044 49672044 + Missense_Mutation SNP C C A novel TCGA-A5-A0RA-01A-21D-A10B-09 TCGA-A5-A0RA-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 96440783-e5f9-47ae-909b-9c2c94d6a61e 55b9fa2c-f017-4dd4-b64e-0723dedb580a NM_015069.2 -1 reviewed p.C340F 1.000 71 0% 98 27.6% 0 - probably_damaging(0.98) tolerated(0.08) deleterious(0.724) PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2 CMTM1 113540 genome.wustl.edu 37 16 66603944 66603945 + Frame_Shift_Del DEL AT AT - novel TCGA-A5-A0RA-01A-21D-A10B-09 TCGA-A5-A0RA-10A-01D-A10B-09 AT AT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 96440783-e5f9-47ae-909b-9c2c94d6a61e 55b9fa2c-f017-4dd4-b64e-0723dedb580a NM_052999.3 +1 reviewed p.Y181fs 0.000:0.000 - - - - - - - - - HMMPfam_MARVEL KLHDC4 54758 genome.wustl.edu 37 16 87743067 87743067 + Missense_Mutation SNP G G T novel TCGA-A5-A0RA-01A-21D-A10B-09 TCGA-A5-A0RA-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 96440783-e5f9-47ae-909b-9c2c94d6a61e 55b9fa2c-f017-4dd4-b64e-0723dedb580a NM_017566.3 -1 validated p.D417E 0.000 15 0% 27 22.2% 2 0% benign(0) tolerated(1) - NULL PRPF8 10594 genome.wustl.edu 37 17 1563737 1563737 + Missense_Mutation SNP C C A novel TCGA-A5-A0RA-01A-21D-A10B-09 TCGA-A5-A0RA-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 96440783-e5f9-47ae-909b-9c2c94d6a61e 55b9fa2c-f017-4dd4-b64e-0723dedb580a NM_006445.3 -1 reviewed p.D1592Y 1.000 70 0% 99 33.3% 10 60% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_U6-snRNA_bdg WDR81 124997 genome.wustl.edu 37 17 1639511 1639511 + Missense_Mutation SNP A A G novel TCGA-A5-A0RA-01A-21D-A10B-09 TCGA-A5-A0RA-10A-01D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 96440783-e5f9-47ae-909b-9c2c94d6a61e 55b9fa2c-f017-4dd4-b64e-0723dedb580a ENST00000409644 +1 known p.K1835R 1.000 34 0% 56 33.9% 0 - possibly_damaging(0.93) tolerated(0.52) neutral(0.385) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 GPR179 440435 genome.wustl.edu 37 17 36482664 36482664 + Missense_Mutation SNP C C T novel TCGA-A5-A0RA-01A-21D-A10B-09 TCGA-A5-A0RA-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 96440783-e5f9-47ae-909b-9c2c94d6a61e 55b9fa2c-f017-4dd4-b64e-0723dedb580a NM_001004334.2 -1 validated p.R2263Q 0.000 75 0% 99 39.4% 0 - benign(0) tolerated(1) - NULL MSL1 339287 genome.wustl.edu 37 17 38289317 38289317 + Missense_Mutation SNP C C T novel TCGA-A5-A0RA-01A-21D-A10B-09 TCGA-A5-A0RA-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 96440783-e5f9-47ae-909b-9c2c94d6a61e 55b9fa2c-f017-4dd4-b64e-0723dedb580a NM_001012241.1 +1 validated p.S241L 0.984 147 0% 179 29.1% 4 50% possibly_damaging(0.85) tolerated(0.78) neutral(0.328) NULL PTRF 284119 genome.wustl.edu 37 17 40574863 40574863 + Missense_Mutation SNP C C A rs61729284 TCGA-A5-A0RA-01A-21D-A10B-09 TCGA-A5-A0RA-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 96440783-e5f9-47ae-909b-9c2c94d6a61e 55b9fa2c-f017-4dd4-b64e-0723dedb580a NM_012232.5 -1 reviewed p.A85S 1.000 24 0% 41 22% 1 0% benign(0.026) tolerated(0.76) neutral(0.002) NULL ARHGAP27 201176 genome.wustl.edu 37 17 43475373 43475373 + Missense_Mutation SNP T T C novel TCGA-A5-A0RA-01A-21D-A10B-09 TCGA-A5-A0RA-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 96440783-e5f9-47ae-909b-9c2c94d6a61e 55b9fa2c-f017-4dd4-b64e-0723dedb580a NM_199282.2 -1 validated p.D254G 1.000 72 0% 107 27.1% 3 66.6% probably_damaging(0.957) deleterious(0) deleterious(0.845) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like IGF2BP1 10642 genome.wustl.edu 37 17 47102991 47102991 + Missense_Mutation SNP T T C novel TCGA-A5-A0RA-01A-21D-A10B-09 TCGA-A5-A0RA-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 96440783-e5f9-47ae-909b-9c2c94d6a61e 55b9fa2c-f017-4dd4-b64e-0723dedb580a NM_006546.3 +1 reviewed p.I83T 1.000 74 0% 109 31.2% 0 - possibly_damaging(0.864) deleterious(0) deleterious(0.779) HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD SPOP 8405 genome.wustl.edu 37 17 47699375 47699375 + Missense_Mutation SNP G G A novel TCGA-A5-A0RA-01A-21D-A10B-09 TCGA-A5-A0RA-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 96440783-e5f9-47ae-909b-9c2c94d6a61e 55b9fa2c-f017-4dd4-b64e-0723dedb580a NM_001007226.1 -1 reviewed p.R45W 1.000 109 0% 130 18.5% 8 50% probably_damaging(0.997) tolerated(0.15) deleterious(0.707) HMMPfam_MATH,HMMSmart_SM00061,superfamily_TRAF domain-like RNF43 54894 genome.wustl.edu 37 17 56439944 56439944 + Silent SNP C C T novel TCGA-A5-A0RA-01A-21D-A10B-09 TCGA-A5-A0RA-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 96440783-e5f9-47ae-909b-9c2c94d6a61e 55b9fa2c-f017-4dd4-b64e-0723dedb580a NM_017763.4 -1 validated p.S216 0.017 51 0% 44 27.3% 0 - - - - NULL TNRC6C 57690 genome.wustl.edu 37 17 76071243 76071243 + Missense_Mutation SNP G G A novel TCGA-A5-A0RA-01A-21D-A10B-09 TCGA-A5-A0RA-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 96440783-e5f9-47ae-909b-9c2c94d6a61e 55b9fa2c-f017-4dd4-b64e-0723dedb580a NM_001142640.1 +1 validated p.V979M 0.989 82 0% 135 26.7% 1 0% benign(0) tolerated(0.43) neutral(0.013) NULL CETN1 1068 genome.wustl.edu 37 18 580703 580703 + Missense_Mutation SNP G G A novel TCGA-A5-A0RA-01A-21D-A10B-09 TCGA-A5-A0RA-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 96440783-e5f9-47ae-909b-9c2c94d6a61e 55b9fa2c-f017-4dd4-b64e-0723dedb580a NM_004066.1 +1 reviewed p.E99K 0.994 52 0% 76 28.9% 0 - benign(0.37) tolerated(0.07) neutral(0.436) superfamily_EF-hand DSG1 1828 genome.wustl.edu 37 18 28906898 28906898 + Missense_Mutation SNP G G A novel TCGA-A5-A0RA-01A-21D-A10B-09 TCGA-A5-A0RA-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 96440783-e5f9-47ae-909b-9c2c94d6a61e 55b9fa2c-f017-4dd4-b64e-0723dedb580a NM_001942.2 +1 reviewed p.R49H 0.996 47 0% 75 21.3% 0 - probably_damaging(0.995) deleterious(0) deleterious(0.902) superfamily_Cadherin-like NACC1 112939 genome.wustl.edu 37 19 13246838 13246838 + Missense_Mutation SNP G G A novel TCGA-A5-A0RA-01A-21D-A10B-09 TCGA-A5-A0RA-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 96440783-e5f9-47ae-909b-9c2c94d6a61e 55b9fa2c-f017-4dd4-b64e-0723dedb580a NM_052876.2 +1 validated p.D273N 1.000 107 0% 125 27.2% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL AP1M1 8907 genome.wustl.edu 37 19 16338999 16338999 + Missense_Mutation SNP C C T novel TCGA-A5-A0RA-01A-21D-A10B-09 TCGA-A5-A0RA-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 96440783-e5f9-47ae-909b-9c2c94d6a61e 55b9fa2c-f017-4dd4-b64e-0723dedb580a NM_001130524.1 +1 reviewed p.R302C 1.000 77 0% 96 26% 9 22.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Adap_comp_sub,superfamily_AP50 HIPK4 147746 genome.wustl.edu 37 19 40886962 40886962 + Silent SNP C C T novel TCGA-A5-A0RA-01A-21D-A10B-09 TCGA-A5-A0RA-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 96440783-e5f9-47ae-909b-9c2c94d6a61e 55b9fa2c-f017-4dd4-b64e-0723dedb580a NM_144685.3 -1 provisional p.A312 0.041 15 0% 20 40% 0 - - - - HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase RPS19 6223 genome.wustl.edu 37 19 42373817 42373817 + Silent SNP C C G novel TCGA-A5-A0RA-01A-21D-A10B-09 TCGA-A5-A0RA-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 96440783-e5f9-47ae-909b-9c2c94d6a61e 55b9fa2c-f017-4dd4-b64e-0723dedb580a NM_001022.3 +1 reviewed p.A135 0.595 52 0% 61 32.8% 1168 44% - - - HMMPfam_Ribosomal_S19e PSG1 5669 genome.wustl.edu 37 19 43375971 43375971 + Missense_Mutation SNP T T C novel TCGA-A5-A0RA-01A-21D-A10B-09 TCGA-A5-A0RA-10A-01D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 96440783-e5f9-47ae-909b-9c2c94d6a61e 55b9fa2c-f017-4dd4-b64e-0723dedb580a NM_006905.2 -1 validated p.I219M 0.000 136 0% 282 24.8% 0 - benign(0.045) tolerated(0.11) neutral(0.274) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin ZNF480 147657 genome.wustl.edu 37 19 52825948 52825948 + Missense_Mutation SNP C C T novel TCGA-A5-A0RA-01A-21D-A10B-09 TCGA-A5-A0RA-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 96440783-e5f9-47ae-909b-9c2c94d6a61e 55b9fa2c-f017-4dd4-b64e-0723dedb580a NM_144684.2 +1 validated p.P482L 0.840 110 0% 176 33% 1 0% benign(0.303) deleterious(0) deleterious(0.538) superfamily_C2H2 and C2HC zinc fingers ZNF419 79744 genome.wustl.edu 37 19 58005429 58005429 + Nonsense_Mutation SNP C C T novel TCGA-A5-A0RA-01A-21D-A10B-09 TCGA-A5-A0RA-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 96440783-e5f9-47ae-909b-9c2c94d6a61e 55b9fa2c-f017-4dd4-b64e-0723dedb580a NM_001098491.1 +1 validated p.R503* 0.010 72 0% 122 41.8% 1 0% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers SAMHD1 25939 genome.wustl.edu 37 20 35555596 35555598 + In_Frame_Del DEL CCT CCT - novel TCGA-A5-A0RA-01A-21D-A10B-09 TCGA-A5-A0RA-10A-01D-A10B-09 CCT CCT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 96440783-e5f9-47ae-909b-9c2c94d6a61e 55b9fa2c-f017-4dd4-b64e-0723dedb580a NM_015474.3 -1 reviewed p.E228in_frame_del 0.000:0.000:0.033 - - - - - - - - - HMMSmart_HDc,HMMPfam_HD,superfamily_SSF109604 CXADR 1525 genome.wustl.edu 37 21 18937982 18937982 + Missense_Mutation SNP C C G novel TCGA-A5-A0RA-01A-21D-A10B-09 TCGA-A5-A0RA-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 96440783-e5f9-47ae-909b-9c2c94d6a61e 55b9fa2c-f017-4dd4-b64e-0723dedb580a NM_001338.3 +1 reviewed p.A357G 1.000 32 0% 42 38.1% 2 50% probably_damaging(0.998) deleterious(0.04) deleterious(0.823) NULL LZTR1 8216 genome.wustl.edu 37 22 21337317 21337317 + Missense_Mutation SNP C C T novel TCGA-A5-A0RA-01A-21D-A10B-09 TCGA-A5-A0RA-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 96440783-e5f9-47ae-909b-9c2c94d6a61e 55b9fa2c-f017-4dd4-b64e-0723dedb580a NM_006767.3 +1 reviewed p.R68C 1.000 190 0% 242 33.5% 1 100% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Kelch_1,superfamily_Galactose oxidase central domain BEND2 139105 genome.wustl.edu 37 X 18189323 18189323 + Missense_Mutation SNP G G T novel TCGA-A5-A0RA-01A-21D-A10B-09 TCGA-A5-A0RA-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 96440783-e5f9-47ae-909b-9c2c94d6a61e 55b9fa2c-f017-4dd4-b64e-0723dedb580a NM_153346.4 -1 validated p.S661R 0.000 93 0% 131 19.8% 0 - possibly_damaging(0.85) deleterious(0.02) deleterious(0.710) NULL ARAF 369 genome.wustl.edu 37 X 47428207 47428207 + Silent SNP C C T novel TCGA-A5-A0RA-01A-21D-A10B-09 TCGA-A5-A0RA-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 96440783-e5f9-47ae-909b-9c2c94d6a61e 55b9fa2c-f017-4dd4-b64e-0723dedb580a NM_001654.3 +1 reviewed p.S389 1.000 70 0% 81 30.9% 13 0% - - - superfamily_Kinase_like,HMMPfam_Pkinase LOC100129144 100129144 genome.wustl.edu 37 X 66594098 66594098 + Silent SNP C C T novel TCGA-A5-A0RA-01A-21D-A10B-09 TCGA-A5-A0RA-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 96440783-e5f9-47ae-909b-9c2c94d6a61e 55b9fa2c-f017-4dd4-b64e-0723dedb580a XM_001721427.1 +1 model p.P55 0.669 7 0.000 11 0.636 0 - - - - superfamily_C2H2 and C2HC zinc fingers NXF2 56001 genome.wustl.edu 37 X 101581402 101581402 + Missense_Mutation SNP G G A novel TCGA-A5-A0RA-01A-21D-A10B-09 TCGA-A5-A0RA-10A-01D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 96440783-e5f9-47ae-909b-9c2c94d6a61e 55b9fa2c-f017-4dd4-b64e-0723dedb580a NM_017809.3 +1 reviewed p.A619T 0.041 371 0% 415 31.3% 0 - benign(0.15) tolerated(0.08) neutral(0.313) HMMPfam_TAP_C,HMMSmart_TAP_C,superfamily_UBA_like GLRA4 441509 genome.wustl.edu 37 X 102974096 102974096 + Missense_Mutation SNP C C G novel TCGA-A5-A0RA-01A-21D-A10B-09 TCGA-A5-A0RA-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 96440783-e5f9-47ae-909b-9c2c94d6a61e 55b9fa2c-f017-4dd4-b64e-0723dedb580a NM_001024452.2 -1 validated p.W274C 1.000 141 0% 169 25.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Neur_chan_memb,superfamily_Neurotransmitter-gated ion-channel transmembrane pore STAG2 10735 genome.wustl.edu 37 X 123197002 123197002 + Nonsense_Mutation SNP C C T novel TCGA-A5-A0RA-01A-21D-A10B-09 TCGA-A5-A0RA-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 96440783-e5f9-47ae-909b-9c2c94d6a61e 55b9fa2c-f017-4dd4-b64e-0723dedb580a NM_001042749.1 +1 validated p.Q590* 1.000 175 0% 186 32.3% 0 - - - - superfamily_ARM-type_fold BCORL1 63035 genome.wustl.edu 37 X 129147411 129147411 + Missense_Mutation SNP C C G novel TCGA-A5-A0RA-01A-21D-A10B-09 TCGA-A5-A0RA-10A-01D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 96440783-e5f9-47ae-909b-9c2c94d6a61e 55b9fa2c-f017-4dd4-b64e-0723dedb580a NM_021946.3 +1 reviewed p.F221L 0.428 219 0% 205 31.7% 1 0% unknown(0) tolerated(0.49) - NULL PHF6 84295 genome.wustl.edu 37 X 133549102 133549103 + Frame_Shift_Ins INS - - T novel TCGA-A5-A0RA-01A-21D-A10B-09 TCGA-A5-A0RA-10A-01D-A10B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 96440783-e5f9-47ae-909b-9c2c94d6a61e 55b9fa2c-f017-4dd4-b64e-0723dedb580a NM_001015877.1 +1 reviewed p.D263fs 0.996:1.000 - - - - - - - - - NULL