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 MIB2 142678 genome.wustl.edu 37 1 1558903 1558903 + Missense_Mutation SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_080875.2 +1 validated p.G82D 1.000 15 0% 35 40% 6 83.3% benign(0.346) tolerated(0.26) neutral(0.144) HMMPfam_MIB_HERC2 NADK 65220 genome.wustl.edu 37 1 1685737 1685737 + Missense_Mutation SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_023018.3 -1 validated p.T310M 0.991 37 0% 76 34.2% 205 40% probably_damaging(0.971) deleterious(0.01) deleterious(0.819) HMMPfam_NAD_kinase,superfamily_NAD kinase (Pfam 01513) KIAA1751 85452 genome.wustl.edu 37 1 1905554 1905554 + Missense_Mutation SNP C C A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_001080484.1 -1 predicted p.G195V 0.000 37 0% 57 33.3% 4 50% possibly_damaging(0.838) tolerated(0.14) deleterious(0.570) NULL RPL22 6146 ucsc.edu 37 1 6257785 6257785 + Frame_Shift_Del DEL T - - novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_000983.3 -1 reviewed p.K15fs 1 - - - - - - - - - HMMPfam_Ribosomal_L22e GPR153 387509 genome.wustl.edu 37 1 6314845 6314845 + Missense_Mutation SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_207370.2 -1 validated p.P41S 1.000 45 0% 91 36.3% 4 75% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_7tm_1,superfamily_SSF81321 PLEKHG5 57449 genome.wustl.edu 37 1 6535161 6535161 + Missense_Mutation SNP A A G novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_198681.2 -1 reviewed p.L160P 1.000 122 0% 189 30.7% 9 44.4% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL TAS1R1 80835 genome.wustl.edu 37 1 6631229 6631229 + Missense_Mutation SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_138697.3 +1 reviewed p.R151H 0.000 54 0% 70 34.3% 0 - benign(0.004) tolerated(0.55) neutral(0.007) HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like I RERE 473 genome.wustl.edu 37 1 8422885 8422885 + Missense_Mutation SNP C C A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_001042681.1 -1 reviewed p.G587V 1.000 141 0% 156 43.6% 33 36.3% unknown(0) deleterious(0) - HMMPfam_Atrophin-1 PTCHD2 57540 genome.wustl.edu 37 1 11561798 11561798 + Missense_Mutation SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_020780.1 +1 validated p.R250H 0.834 5 0.000 16 0.312 0 - possibly_damaging(0.484) deleterious(0.03) deleterious(0.525) HMMPfam_Patched NPPA 4878 genome.wustl.edu 37 1 11907726 11907726 + Missense_Mutation SNP T T A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_006172.3 -1 reviewed p.T6S 0.106 197 0% 235 10.2% 3 0% unknown(0) tolerated(0.85) - NULL IGSF21 84966 genome.wustl.edu 37 1 18703361 18703361 + Missense_Mutation SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_032880.3 +1 validated p.A390V 0.134 36 0% 66 13.6% 1 0% benign(0.049) tolerated(0.05) neutral(0.348) HMMSmart_IG,superfamily_SSF48726 ZBTB40 9923 genome.wustl.edu 37 1 22838599 22838599 + Silent SNP C C A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_001083621.1 +1 validated p.L811 1.000 81 0% 101 41.6% 2 50% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers EPHB2 2048 genome.wustl.edu 37 1 23240243 23240243 + Silent SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b ENST00000400191 +1 known p.D1016 0.007 160 0.6% 183 35% 0 - - - - NULL FCN3 8547 genome.wustl.edu 37 1 27700876 27700876 + Missense_Mutation SNP G G T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_003665.2 -1 reviewed p.P53H 1.000 73 0% 105 36.2% 1 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL GJB4 127534 genome.wustl.edu 37 1 35226978 35226978 + Missense_Mutation SNP G G T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_153212.2 +1 reviewed p.E41D 1.000 195 0% 215 30.7% 5 0% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_Connexin CTPS 1503 genome.wustl.edu 37 1 41467863 41467863 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_001905.2 +1 validated p.R376* 1.000 365 0% 364 36% 6 0% - - - HMMPfam_GATase,superfamily_SSF52317 KDM4A 9682 genome.wustl.edu 37 1 44159763 44159763 + Missense_Mutation SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_014663.2 +1 reviewed p.R825H 1.000 155 0% 184 14.1% 25 20% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL POMGNT1 55624 genome.wustl.edu 37 1 46663514 46663514 + RNA SNP A A T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NR_024332.1 -1 reviewed NULL 0.355 45 0% 45 33.3% 2 0% - - - - BARHL2 343472 genome.wustl.edu 37 1 91182159 91182159 + Silent SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_020063.1 -1 validated p.R198 1.000 138 0% 134 36.6% 0 - - - - NULL FRRS1 391059 genome.wustl.edu 37 1 100174538 100174538 + Silent SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_001013660.2 -1 validated p.I599 0.004 165 0% 165 33.3% 2 0% - - - NULL DBT 1629 genome.wustl.edu 37 1 100706417 100706417 + Silent SNP T T C novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_001918.2 -1 reviewed p.T25 0.000 155 0% 137 28.5% 6 50% - - - NULL DPH5 51611 genome.wustl.edu 37 1 101467037 101467037 + Missense_Mutation SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_001077394.1 -1 reviewed p.T159I 1.000 310 0% 247 30.4% 9 44.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TP_methylase,superfamily_Tetrapyrrole methylase AMY2B 280 genome.wustl.edu 37 1 104122083 104122083 + Missense_Mutation SNP G G T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_020978.3 +1 reviewed p.E499D 0.999 197 0% 173 38.7% 1 100% benign(0) tolerated(0.75) neutral(0.002) HMMPfam_Alpha-amylase_C,HMMSmart_SM00632,superfamily_Glycosyl hydrolase domain GNAI3 2773 genome.wustl.edu 37 1 110128958 110128958 + Silent SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_006496.2 +1 validated p.D237 1.000 234 0% 192 41.7% 48 43.7% - - - HMMPfam_G-alpha,HMMSmart_SM00275,superfamily_P-loop containing nucleoside triphosphate hydrolases SYCP1 6847 genome.wustl.edu 37 1 115537595 115537595 + Missense_Mutation SNP G G T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_003176.2 +1 validated p.M962I 0.999 47 0% 56 48.2% 0 - benign(0) tolerated(0.64) neutral(0.003) NULL HMGCS2 3158 genome.wustl.edu 37 1 120302487 120302487 + Missense_Mutation SNP C C A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_005518.3 -1 reviewed p.G229W 1.000 73 0% 58 25.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HMG_CoA_synt_C,superfamily_Thiolase-like NOTCH2NL 388677 genome.wustl.edu 37 1 145273386 145273386 + Silent SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_203458.3 +1 validated p.G80 1.000 753 0.1% 762 11.7% 263 54.7% - - - HMMSmart_SM00179,HMMPfam_EGF,HMMSmart_SM00181,superfamily_EGF/Laminin CERS2 29956 genome.wustl.edu 37 1 150941418 150941418 + Missense_Mutation SNP A A C novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_022075.3 -1 reviewed p.L50R 1.000 199 0% 235 30.6% 101 58.4% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL TDRD10 126668 genome.wustl.edu 37 1 154516586 154516586 + Silent SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_001098475.1 +1 validated p.E217 0.885 158 0% 193 40.4% 1 0% - - - HMMPfam_TUDOR GBAP1 2630 genome.wustl.edu 37 1 155185404 155185404 + Missense_Mutation SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b ENST00000368374 -1 known p.A233V 0.999 81 0% 101 33.7% 4 25% benign(0.004) tolerated(0.51) neutral(0.009) HMMPfam_Glyco_hydro_30,superfamily_(Trans)glycosidases GON4L 54856 genome.wustl.edu 37 1 155736403 155736403 + Missense_Mutation SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_001037533.1 -1 validated p.R954Q 0.000 304 0.3% 324 35.2% 3 0% benign(0) tolerated(0.95) - NULL IQGAP3 128239 genome.wustl.edu 37 1 156518522 156518522 + Missense_Mutation SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_178229.4 -1 validated p.A615V 1.000 63 0% 78 28.2% 4 75% benign(0.043) tolerated(0.28) neutral(0.034) NULL NTRK1 4914 genome.wustl.edu 37 1 156845383 156845383 + Missense_Mutation SNP C C A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_002529.3 +1 reviewed p.L476M 0.999 113 0% 119 39.5% 0 - benign(0.311) tolerated(0.21) neutral(0.141) NULL IFI16 3428 genome.wustl.edu 37 1 158988080 158988080 + Missense_Mutation SNP C C A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_005531.2 +1 reviewed p.P204Q 0.002 183 0% 173 35.3% 5 0% probably_damaging(0.982) deleterious(0) deleterious(0.871) HMMPfam_HIN TAGLN2 8407 genome.wustl.edu 37 1 159890296 159890296 + Missense_Mutation SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_003564.1 -1 reviewed p.A2T 1.000 96 0% 114 21.1% 884 43.4% possibly_damaging(0.854) deleterious(0) deleterious(0.774) superfamily_Calponin-homology FAM78B 149297 genome.wustl.edu 37 1 166135431 166135431 + Missense_Mutation SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_001017961.3 -1 validated p.V19M 1.000 55 0% 80 33.8% 1 0% benign(0.059) tolerated(0.14) neutral(0.254) NULL DCAF6 55827 genome.wustl.edu 37 1 168037681 168037681 + Missense_Mutation SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_018442.2 +1 validated p.S853L 0.997 172 0% 209 29.2% 22 45.4% possibly_damaging(0.649) deleterious(0.03) deleterious(0.593) NULL F5 2153 genome.wustl.edu 37 1 169510415 169510416 + Frame_Shift_Del DEL GA GA - novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 GA GA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_000130.4 -1 reviewed p.P1305fs 0.096:0.010 - - - - - - - - - HMMPfam_LSPR F5 2153 genome.wustl.edu 37 1 169528428 169528428 + Missense_Mutation SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_000130.4 -1 reviewed p.M231I 1.000 176 0.6% 172 36.6% 0 - possibly_damaging(0.891) deleterious(0) deleterious(0.795) superfamily_Cupredoxins FAM163A 148753 genome.wustl.edu 37 1 179782263 179782263 + Missense_Mutation SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_173509.2 +1 provisional p.G11R 1.000 187 0% 184 33.7% 0 - probably_damaging(0.993) deleterious(0) deleterious(0.895) NULL FAM163A 148753 genome.wustl.edu 37 1 179783105 179783105 + Silent SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_173509.2 +1 provisional p.C95 1.000 29 0% 32 28.1% 0 - - - - NULL SMG7 9887 genome.wustl.edu 37 1 183515450 183515450 + Missense_Mutation SNP C C A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_173156.2 +1 validated p.P907H 0.981 135 0% 161 31.1% 9 44.4% probably_damaging(0.971) deleterious(0) deleterious(0.857) NULL KCNT2 343450 genome.wustl.edu 37 1 196577422 196577422 + Silent SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_198503.2 -1 validated p.S6 1.000 324 0% 325 29.5% 0 - - - - NULL CFHR4 10877 genome.wustl.edu 37 1 196881925 196881925 + Silent SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_006684.2 +1 validated p.S104 0.000 39 0% 26 15.4% 0 - - - - HMMPfam_Sushi,HMMSmart_CCP,superfamily_Complement_control_module NFASC 23114 genome.wustl.edu 37 1 204985520 204985520 + Silent SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b ENST00000367173 +1 known p.W993* 1.000 284 0.4% 323 36.2% 2 50% - - - NULL DIEXF 27042 genome.wustl.edu 37 1 210012391 210012391 + Silent SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b ENST00000457820 +1 known p.P81L 0.234 310 0% 333 30.3% 3 66.6% - - - HMMPfam_DUF1253 PROX1 5629 genome.wustl.edu 37 1 214170907 214170907 + Silent SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_002763.3 +1 provisional p.P343 0.011 160 0.6% 192 38.5% 0 - - - - HMMPfam_Prox1 CENPF 1063 genome.wustl.edu 37 1 214816385 214816385 + Missense_Mutation SNP G G C novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_016343.3 +1 reviewed p.E1568D 0.022 59 0% 54 40.7% 2 50% benign(0.001) tolerated(0.48) neutral(0.011) NULL WNT9A 7483 genome.wustl.edu 37 1 228112049 228112049 + Silent SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_003395.2 -1 validated p.H135 0.926 70 0% 104 42.3% 19 52.6% - - - HMMPfam_wnt,HMMSmart_WNT1 PCNXL2 80003 genome.wustl.edu 37 1 233121957 233121957 + Missense_Mutation SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_014801.3 -1 provisional p.A2041T 0.888 35 0% 49 49% 7 42.8% probably_damaging(0.996) deleterious(0.01) deleterious(0.867) NULL NID1 4811 genome.wustl.edu 37 1 236205358 236205358 + Silent SNP G G T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_002508.2 -1 reviewed p.P329 0.002 86 0% 116 11.2% 3 0% - - - NULL FMN2 56776 genome.wustl.edu 37 1 240256392 240256392 + Missense_Mutation SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_020066.4 +1 validated p.A328V 0.000 9 0.000 16 0.375 0 - unknown(0) deleterious(0.01) - NULL OR11L1 391189 genome.wustl.edu 37 1 248005154 248005154 + Silent SNP T T C novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_001001959.1 -1 provisional p.L15 0.004 140 0% 145 33.8% 0 - - - - superfamily_SSF81321 ROCK2 9475 genome.wustl.edu 37 2 11338879 11338879 + Missense_Mutation SNP G G T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_004850.3 -1 reviewed p.L978I 1.000 73 0% 77 40.3% 4 50% probably_damaging(0.994) deleterious(0.02) deleterious(0.835) HMMPfam_Rho_Binding ATAD2B 54454 genome.wustl.edu 37 2 23980784 23980784 + Silent SNP A A G novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b ENST00000381024 -1 known p.M470T 1.000 265 0% 275 33.5% 2 100% - - - NULL DTNB 1838 genome.wustl.edu 37 2 25611077 25611077 + Missense_Mutation SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_021907.3 -1 reviewed p.A577T 0.999 68 0% 93 39.8% 136 44.1% benign(0.004) tolerated(0.11) neutral(0.272) NULL FOSL2 2355 genome.wustl.edu 37 2 28631704 28631704 + Missense_Mutation SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_005253.3 +1 reviewed p.R145C 0.995 48 0% 68 39.7% 73 32.8% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00338,HMMPfam_bZIP_2 EHD3 30845 genome.wustl.edu 37 2 31467261 31467261 + Missense_Mutation SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_014600.2 +1 validated p.D117N 1.000 135 0% 147 36.1% 1 0% probably_damaging(0.999) deleterious(0.03) deleterious(0.855) HMMPfam_Dynamin_N,superfamily_P-loop containing nucleoside triphosphate hydrolases BIRC6 57448 genome.wustl.edu 37 2 32658772 32658772 + Silent SNP T T C novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_016252.3 +1 reviewed p.H1103 1.000 273 0% 294 26.5% 1 0% - - - NULL FAM82A1 151393 genome.wustl.edu 37 2 38179324 38179324 + Silent SNP T T G novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_144713.3 +1 validated p.P322 0.000 44 2.3% 41 36.6% 0 - - - - NULL PPP1R21 129285 genome.wustl.edu 37 2 48737227 48737227 + Missense_Mutation SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_001135629.1 +1 validated p.A720V 1.000 231 0% 197 29.4% 23 56.5% possibly_damaging(0.907) deleterious(0.01) deleterious(0.766) HMMPfam_TTKRSYEDQ SPTBN1 6711 genome.wustl.edu 37 2 54891625 54891625 + Silent SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_003128.2 +1 reviewed p.N2152 0.104 107 0.9% 116 32.8% 83 36.1% - - - NULL EHBP1 23301 genome.wustl.edu 37 2 63223864 63223864 + Silent SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_015252.3 +1 reviewed p.A1093 1.000 195 0% 171 33.9% 14 64.2% - - - NULL CD207 50489 genome.wustl.edu 37 2 71058265 71058265 + Silent SNP G G T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_015717.2 -1 validated p.P301 0.000 475 0.2% 373 38.9% 15 6.6% - - - HMMPfam_Lectin_C,HMMSmart_CLECT,superfamily_C-type_lectin_fold,PatternScan_C_TYPE_LECTIN_1 GGCX 2677 genome.wustl.edu 37 2 85779092 85779092 + Silent SNP A A G novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_000821.4 -1 reviewed p.P484 1.000 105 0% 108 38% 25 48% - - - HMMPfam_VKG_Carbox,superfamily_RmlC_like_cupin IMMT 10989 genome.wustl.edu 37 2 86371639 86371639 + Missense_Mutation SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_006839.2 -1 validated p.P677S 1.000 140 0% 166 36.1% 26 50% probably_damaging(0.999) tolerated(0.16) deleterious(0.550) HMMPfam_Mitofilin KCNIP3 30818 genome.wustl.edu 37 2 96012813 96012813 + Missense_Mutation SNP C C G novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_001034914.1 +1 reviewed p.L16V 0.994 81 0% 107 35.5% 0 - benign(0) tolerated(1) - NULL IWS1 55677 genome.wustl.edu 37 2 128263074 128263074 + Silent SNP A A G novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_017969.2 -1 validated p.N135 0.426 185 0.5% 182 31.9% 3 66.6% - - - NULL PTPN18 26469 genome.wustl.edu 37 2 131128343 131128343 + Silent SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_014369.3 +1 reviewed p.A274 0.001 181 0% 186 40.3% 33 42.4% - - - HMMPfam_Y_phosphatase,HMMSmart_PTPc,superfamily_SSF52799 THSD7B 80731 genome.wustl.edu 37 2 138033516 138033516 + Missense_Mutation SNP C C A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_001080427.1 +1 provisional p.P776H 0.545 290 0% 272 33.5% 0 - benign(0.004) tolerated(0.1) neutral(0.286) superfamily_TSP-1 type 1 repeat PRPF40A 55660 genome.wustl.edu 37 2 153520415 153520415 + Missense_Mutation SNP T T G novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_017892.3 -1 validated p.K649T 1.000 72 0% 70 31.4% 9 77.7% possibly_damaging(0.806) deleterious(0.01) deleterious(0.709) NULL IFIH1 64135 genome.wustl.edu 37 2 163123794 163123794 + Frame_Shift_Del DEL T T - novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_022168.2 -1 reviewed p.K998fs 0.602 - - - - - - - - - NULL TTC21B 79809 genome.wustl.edu 37 2 166747050 166747050 + Silent SNP A A G novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_024753.3 -1 validated p.L1068 0.998 207 0% 162 32.1% 3 33.3% - - - superfamily_TPR-like UBR3 130507 genome.wustl.edu 37 2 170732402 170732402 + Missense_Mutation SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_172070.3 +1 validated p.R263W 0.989 288 0% 209 34% 2 50% probably_damaging(1) deleterious(0) deleterious(0.945) NULL UBR3 130507 genome.wustl.edu 37 2 170806214 170806214 + Missense_Mutation SNP C C G novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_172070.3 +1 validated p.R1062G 1.000 112 0% 104 43.3% 2 50% probably_damaging(0.993) tolerated(0.06) deleterious(0.772) NULL AGPS 8540 genome.wustl.edu 37 2 178301497 178301497 + Silent SNP C C A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_003659.3 +1 reviewed p.S149 0.981 123 0% 115 25.2% 1 0% - - - NULL FSIP2 401024 genome.wustl.edu 37 2 186672448 186672448 + Missense_Mutation SNP A A G novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b ENST00000424728 +1 known p.T6139A 0.950 119 0% 130 37.7% 0 - probably_damaging(0.992) tolerated(0.24) deleterious(0.485) NULL FN1 2335 genome.wustl.edu 37 2 216274814 216274814 + Missense_Mutation SNP C C A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_212482.1 -1 reviewed p.K655N 1.000 341 0% 284 36.6% 7 0% possibly_damaging(0.761) deleterious(0.01) deleterious(0.688) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III STK11IP 114790 genome.wustl.edu 37 2 220473844 220473844 + Missense_Mutation SNP C C A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b ENST00000456909 +1 known p.P612H 0.739 185 0% 222 31.1% 10 70% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL SLC4A3 6508 genome.wustl.edu 37 2 220505609 220505609 + Silent SNP C C A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_201574.2 +1 validated p.P1209 1.000 126 0% 134 32.1% 6 16.6% - - - NULL SP140 11262 genome.wustl.edu 37 2 231106120 231106120 + Silent SNP A A G novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_007237.4 +1 validated p.V136 0.000 287 0% 292 24.7% 1 0% - - - HMMPfam_Sp100 DIS3L2 129563 genome.wustl.edu 37 2 233001224 233001224 + Missense_Mutation SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_152383.4 +1 validated p.G249S 1.000 299 0% 294 35.4% 6 66.6% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL ALPI 248 genome.wustl.edu 37 2 233323081 233323081 + Silent SNP C C A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_001631.3 +1 reviewed p.S382 0.933 64 0% 99 31.3% 0 - - - - HMMPfam_Alk_phosphatase,HMMSmart_SM00098,superfamily_Alkaline phosphatase-like KCNJ13 3769 genome.wustl.edu 37 2 233633450 233633450 + Silent SNP T T C novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_002242.4 -1 reviewed p.V178 0.954 206 0% 200 38% 0 - - - - HMMPfam_IRK,superfamily_E set domains GPC1 2817 genome.wustl.edu 37 2 241404520 241404520 + Silent SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b ENST00000420138 +1 known p.R427* 0.001 37 0% 49 55.1% 64 42.1% - - - HMMPfam_Glypican ITPR1 3708 genome.wustl.edu 37 3 4753527 4753527 + Missense_Mutation SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_001099952.2 +1 reviewed p.T1684I 1.000 185 0% 162 32.1% 0 - benign(0.004) tolerated(0.09) neutral(0.296) NULL BRPF1 7862 genome.wustl.edu 37 3 9783721 9783721 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_001003694.1 +1 reviewed p.Q623* 1.000 105 0% 163 33.1% 3 33.3% - - - superfamily_Bromodomain TTLL3 26140 genome.wustl.edu 37 3 9870966 9870966 + Missense_Mutation SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_001025930.2 +1 provisional p.A481T 0.002 32 0% 40 30% 91 39.5% benign(0.017) tolerated(0.37) neutral(0.019) HMMPfam_TTL TOP2B 7155 genome.wustl.edu 37 3 25651066 25651068 + In_Frame_Del DEL CTT CTT - novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 CTT CTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_001068.2 -1 reviewed p.K1303in_frame_del 0.999:1.000:1.000 - - - - - - - - - NULL SLC22A14 9389 genome.wustl.edu 37 3 38354586 38354586 + Silent SNP C C A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_004803.3 +1 validated p.T347 0.074 121 0% 144 35.4% 1 100% - - - HMMPfam_MFS_1,superfamily_MFS general substrate transporter SCN10A 6336 genome.wustl.edu 37 3 38760296 38760296 + Missense_Mutation SNP C C A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_006514.2 -1 validated p.D1177Y 0.380 98 0% 103 32% 0 - possibly_damaging(0.44) deleterious(0) deleterious(0.588) superfamily_SSF81324 CCR8 1237 genome.wustl.edu 37 3 39374799 39374799 + Missense_Mutation SNP T T C novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_005201.3 +1 reviewed p.L326P 0.000 80 0% 69 26.1% 0 - benign(0.267) tolerated(0.09) neutral(0.325) superfamily_Family A G protein-coupled receptor-like ZNF502 91392 genome.wustl.edu 37 3 44763635 44763635 + Missense_Mutation SNP G G C novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_001134440.1 +1 validated p.K442N 0.993 241 0% 214 29% 1 0% unknown(0) tolerated(0.05) - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 FYCO1 79443 genome.wustl.edu 37 3 46000922 46000922 + Missense_Mutation SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_024513.2 -1 validated p.R1184W 0.996 73 0% 71 25.4% 7 14.2% probably_damaging(0.999) deleterious(0.03) deleterious(0.855) HMMPfam_FYVE,HMMSmart_SM00064,superfamily_FYVE/PHD zinc finger LTF 4057 genome.wustl.edu 37 3 46479588 46479588 + Silent SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_002343.2 -1 reviewed p.P647 0.000 191 0% 200 38% 2002 1.2% - - - HMMPfam_Transferrin,HMMSmart_TR_FER,superfamily_SSF53850 KLHL18 23276 genome.wustl.edu 37 3 47378196 47378196 + Missense_Mutation SNP A A G novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_025010.4 +1 validated p.N357S 1.000 174 0% 172 34.9% 11 36.3% possibly_damaging(0.452) deleterious(0.04) deleterious(0.497) HMMPfam_Kelch_1,HMMSmart_SM00612,superfamily_Galactose oxidase central domain CELSR3 1951 genome.wustl.edu 37 3 48682984 48682984 + Missense_Mutation SNP G G C novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_001407.2 -1 reviewed p.S2563R 1.000 15 0% 34 41.2% 0 - possibly_damaging(0.68) tolerated(0.05) deleterious(0.588) HMMPfam_7tm_2 CELSR3 1951 genome.wustl.edu 37 3 48697730 48697730 + Missense_Mutation SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_001407.2 -1 reviewed p.A780T 1.000 88 0% 120 32.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like LAMB2 3913 genome.wustl.edu 37 3 49167685 49167685 + Missense_Mutation SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_002292.3 -1 reviewed p.R402W 0.738 136 0% 175 35.4% 15 13.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Laminin_EGF,HMMSmart_EGF_Lam,PatternScan_EGF_LAM_1,superfamily_SSF57196 CAMKV 79012 genome.wustl.edu 37 3 49898890 49898890 + Missense_Mutation SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b ENST00000466535 -1 known p.S128L 0.555 80 0% 119 11.8% 0 - unknown(0) - - NULL CACNA2D2 9254 genome.wustl.edu 37 3 50417174 50417174 + Silent SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_001005505.1 -1 reviewed p.D325 1.000 105 0% 135 35.6% 0 - - - - HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like ADAMTS9 56999 genome.wustl.edu 37 3 64607937 64607937 + Missense_Mutation SNP T T C novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_182920.1 -1 reviewed p.K875E 1.000 127 0% 195 39.5% 3 33.3% benign(0.01) tolerated(0.19) neutral(0.050) superfamily_TSP-1 type 1 repeat MAGI1 9223 genome.wustl.edu 37 3 65415651 65415651 + Missense_Mutation SNP T T C novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_001033057.1 -1 reviewed p.T571A 1.000 271 0% 264 34.1% 12 33.3% benign(0.297) tolerated(0.3) neutral(0.120) NULL TAGLN3 29114 genome.wustl.edu 37 3 111732267 111732267 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_001008272.1 +1 validated p.Q157* 1.000 145 0% 132 25% 0 - - - - superfamily_Calponin-homology domain CH-domain KIAA2018 205717 genome.wustl.edu 37 3 113376756 113376756 + Missense_Mutation SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_001009899.2 -1 validated p.A1258V 0.585 137 0% 172 30.8% 0 - benign(0.033) tolerated(0.18) neutral(0.058) NULL ILDR1 286676 genome.wustl.edu 37 3 121720276 121720276 + Silent SNP G G T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_175924.2 -1 provisional p.I175 0.994 150 0.7% 187 32.1% 45 37.7% - - - HMMPfam_LSR ESYT3 83850 genome.wustl.edu 37 3 138181013 138181013 + Silent SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_031913.3 +1 validated p.L294 0.784 242 0% 221 33.5% 0 - - - - superfamily_C2 domain (Calcium/lipid-binding domain CaLB) ACPL2 92370 genome.wustl.edu 37 3 141012039 141012039 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_001037172.1 +1 validated p.G479* 0.681 78 0% 66 37.9% 15 33.3% - - - NULL ZBTB38 253461 genome.wustl.edu 37 3 141163624 141163624 + Silent SNP T T C novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_001080412.2 +1 validated p.P798 0.001 97 0% 96 43.8% 1 0% - - - NULL IGSF10 285313 genome.wustl.edu 37 3 151164718 151164718 + Silent SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_178822.4 -1 validated p.G1017 1.000 163 0% 172 29.7% 0 - - - - NULL PTX3 5806 genome.wustl.edu 37 3 157160184 157160184 + Missense_Mutation SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_002852.3 +1 validated p.R188C 1.000 68 0% 63 30.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Pentaxin,HMMSmart_SM00159,superfamily_Concanavalin A-like lectins/glucanases RSRC1 51319 genome.wustl.edu 37 3 158261994 158261994 + Missense_Mutation SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_016625.2 +1 provisional p.A312V 1.000 176 0% 156 37.2% 3 33.3% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL PLD1 5337 genome.wustl.edu 37 3 171330169 171330169 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b ENST00000446289 -1 known p.W190* 1.000 231 0% 260 31.9% 1 0% possibly_damaging(0.924) deleterious(0.02) deleterious(0.756) superfamily_Phospholipase D/nuclease KCNMB2 10242 genome.wustl.edu 37 3 178560711 178560711 + Missense_Mutation SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_005832.3 +1 reviewed p.R232W 0.930 100 0% 87 40.2% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL CTBP1 1487 genome.wustl.edu 37 4 1219270 1219270 + Missense_Mutation SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_001328.2 -1 reviewed p.R142Q 0.986 17 0% 31 35.5% 436 45.6% probably_damaging(0.997) tolerated(0.16) deleterious(0.526) HMMPfam_2-Hacid_dh,HMMPfam_2-Hacid_dh_C,superfamily_NAD(P)-binding Rossmann-fold domains,superfamily_Formate/glycerate dehydrogenase catalytic domain-like MSX1 4487 genome.wustl.edu 37 4 4861745 4861745 + Missense_Mutation SNP C C G rs36059701 byCluster;by1000genomes TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_002448.3 +1 reviewed p.A40G 0.097 3 0.000 7 0.857 13 38.4% possibly_damaging(0.868) tolerated(0.18) neutral(0.393) NULL SLC2A9 56606 genome.wustl.edu 37 4 9987346 9987346 + Missense_Mutation SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_020041.2 -1 reviewed p.A161V 0.909 190 0% 183 33.3% 1 0% possibly_damaging(0.773) deleterious(0.01) deleterious(0.693) HMMPfam_Sugar_tr,superfamily_MFS general substrate transporter BOD1L 259282 genome.wustl.edu 37 4 13615990 13615991 + Frame_Shift_Del DEL TT TT - novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 TT TT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_148894.2 -1 validated p.K335fs 1.000:1.000 - - - - - - - - - superfamily_SSF81995 DTHD1 401124 genome.wustl.edu 37 4 36296646 36296646 + Missense_Mutation SNP C C A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_001136536.3 +1 validated p.P253H 0.008 169 0% 184 35.9% 2 50% possibly_damaging(0.448) deleterious(0) deleterious(0.591) NULL SCFD2 152579 genome.wustl.edu 37 4 53787024 53787024 + Silent SNP T T C novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_152540.3 -1 validated p.S525 0.004 111 0% 75 38.7% 1 0% - - - superfamily_Sec1/munc18-like (SM) proteins HOPX 84525 genome.wustl.edu 37 4 57516863 57516863 + Missense_Mutation SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_001145460.1 -1 reviewed p.P105L 0.116 126 0% 146 35.6% 0 - unknown(0) deleterious(0) - NULL UGT2B11 10720 genome.wustl.edu 37 4 69879873 69879873 + Splice_Site SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b ENST00000381096 -1 known e4-1 1.000 320 0% 267 30.7% 0 - - - - - SLC4A4 8671 genome.wustl.edu 37 4 72399971 72399971 + Missense_Mutation SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_001134742.1 +1 reviewed p.V770I 1.000 227 0% 167 30.5% 0 - benign(0) tolerated(1) - HMMPfam_HCO3_cotransp SOWAHB 345079 genome.wustl.edu 37 4 77817906 77817906 + Missense_Mutation SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_001029870.1 -1 provisional p.P366L 0.001 64 0% 53 30.2% 0 - benign(0.002) tolerated(1) - NULL ANTXR2 118429 genome.wustl.edu 37 4 80976572 80976572 + Missense_Mutation SNP A A G novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_001145794.1 -1 reviewed p.I143T 0.998 223 0% 181 36.5% 2 50% possibly_damaging(0.669) deleterious(0) deleterious(0.681) HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like IBSP 3381 genome.wustl.edu 37 4 88733023 88733023 + Silent SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_004967.3 +1 reviewed p.Y305 0.045 78 0% 75 29.3% 1 0% - - - HMMPfam_BSP_II SLC9B1 150159 genome.wustl.edu 37 4 103870443 103870443 + Missense_Mutation SNP G G T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_139173.2 -1 reviewed p.P118H 0.978 250 0% 200 20% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Na_H_Exchanger TACR3 6870 genome.wustl.edu 37 4 104579526 104579526 + Silent SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_001059.1 -1 reviewed p.L195 1.000 238 0% 187 26.7% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 GSTCD 79807 genome.wustl.edu 37 4 106763261 106763261 + Missense_Mutation SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_001031720.2 +1 validated p.V579I 1.000 433 0% 376 35.9% 1 0% possibly_damaging(0.761) tolerated(0.24) neutral(0.319) NULL NUDT6 11162 genome.wustl.edu 37 4 123814193 123814193 + Missense_Mutation SNP C C G novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_007083.3 -1 validated p.E247D 1.000 271 0% 243 28.8% 2 0% benign(0.009) tolerated(0.14) neutral(0.250) HMMPfam_NUDIX,superfamily_Nudix LARP1B 55132 genome.wustl.edu 37 4 129035811 129035811 + Missense_Mutation SNP G G T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_018078.2 +1 reviewed p.G359C 1.000 191 0% 211 29.4% 0 - probably_damaging(0.996) deleterious(0.04) deleterious(0.810) NULL PCDH10 57575 genome.wustl.edu 37 4 134073196 134073196 + Missense_Mutation SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_032961.1 +1 reviewed p.R634H 1.000 14 0% 21 33.3% 0 - probably_damaging(1) tolerated(0.57) deleterious(0.506) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like FHDC1 85462 genome.wustl.edu 37 4 153874672 153874672 + Missense_Mutation SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_033393.2 +1 validated p.R174W 1.000 284 0% 222 21.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_FH2,HMMPfam_FH2,superfamily_FH2_actin_bd KIAA0922 23240 genome.wustl.edu 37 4 154513671 154513671 + Silent SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_015196.3 +1 validated p.S618 0.123 382 0% 345 35.9% 4 25% - - - NULL NEK1 4750 genome.wustl.edu 37 4 170321441 170321441 + Missense_Mutation SNP T T C novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_012224.1 -1 validated p.N1233S 1.000 133 0% 110 40.9% 2 100% benign(0.004) tolerated(0.24) neutral(0.037) NULL SORBS2 8470 genome.wustl.edu 37 4 186536285 186536285 + Missense_Mutation SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_021069.4 -1 reviewed p.V890I 1.000 259 0% 254 25.6% 12 41.6% probably_damaging(0.99) tolerated(0.2) deleterious(0.490) HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain SDHA 6389 genome.wustl.edu 37 5 256475 256475 + Silent SNP C C A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_004168.2 +1 reviewed p.I645 0.961 249 0% 234 28.6% 520 37.8% - - - HMMPfam_Succ_DH_flav_C,superfamily_Succinate dehydrogenase/fumarate reductase flavoprotein C-terminal domain PDZD2 23037 genome.wustl.edu 37 5 32098579 32098579 + Missense_Mutation SNP A A G novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_178140.2 +1 reviewed p.N2686S 0.239 187 0% 167 33.5% 2 100% benign(0.025) deleterious(0.02) neutral(0.384) HMMSmart_SM00228,superfamily_PDZ domain-like ARL15 54622 genome.wustl.edu 37 5 53409139 53409139 + Missense_Mutation SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_019087.2 -1 validated p.A119T 1.000 213 0% 166 41% 3 66.6% benign(0.418) deleterious(0) deleterious(0.580) HMMPfam_Arf,superfamily_SSF52540 MAST4 375449 genome.wustl.edu 37 5 66459510 66459510 + Silent SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b ENST00000443808 +1 known p.R558C 0.001 11 0% 21 33.3% 2 0% - - - NULL PIK3R1 5295 genome.wustl.edu 37 5 67589607 67589609 + In_Frame_Del DEL AAG AAG - novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 AAG AAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_181523.1 +1 reviewed p.E458in_frame_del 1.000:1.000:1.000 - - - - - - - - - NULL TNPO1 3842 genome.wustl.edu 37 5 72178964 72178964 + Missense_Mutation SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_002270.3 +1 reviewed p.T352M 1.000 133 0% 151 39.7% 52 48% possibly_damaging(0.504) tolerated(0.16) neutral(0.228) superfamily_ARM repeat HMGCR 3156 genome.wustl.edu 37 5 74646998 74646998 + Silent SNP A A G novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_000859.2 +1 reviewed p.S349 0.639 118 0% 136 33.8% 3 33.3% - - - NULL LHFPL2 10184 genome.wustl.edu 37 5 77784762 77784762 + Silent SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_005779.2 -1 reviewed p.Q215 1.000 241 0% 234 25.6% 1 0% - - - NULL TMEM161B 153396 genome.wustl.edu 37 5 87536685 87536685 + Missense_Mutation SNP T T A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_153354.3 -1 provisional p.M18L 1.000 200 0% 171 35.1% 3 66.6% benign(0) tolerated(0.28) neutral(0.032) HMMPfam_Tmemb_161AB DCP2 167227 genome.wustl.edu 37 5 112339641 112339641 + Missense_Mutation SNP G G T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_152624.4 +1 validated p.R270L 1.000 109 0% 93 34.4% 1 0% benign(0.131) deleterious(0.04) neutral(0.360) NULL FTMT 94033 genome.wustl.edu 37 5 121187928 121187928 + Silent SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_177478.1 +1 validated p.A90 0.986 68 0% 72 15.3% 0 - - - - HMMPfam_Ferritin,superfamily_Ferritin/RR_like PITX1 5307 genome.wustl.edu 37 5 134367188 134367188 + Silent SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_002653.4 -1 reviewed p.R60 0.858 44 0% 55 30.9% 1 0% - - - NULL PCDHA3 56145 genome.wustl.edu 37 5 140180965 140180965 + Silent SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_018906.2 +1 reviewed p.P61 0.998 66 1.5% 69 23.2% 0 - - - - HMMSmart_SM00112,HMMPfam_Cadherin_2,superfamily_Cadherin-like PCDHAC1 56135 genome.wustl.edu 37 5 140308197 140308197 + Missense_Mutation SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_018898.3 +1 reviewed p.A574T 0.998 192 0% 197 35% 1 100% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Cadherin,superfamily_Cadherin-like PCDHB13 56123 genome.wustl.edu 37 5 140594909 140594909 + Missense_Mutation SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_018933.2 +1 reviewed p.T405M 0.034 149 0.7% 153 34% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin PCDHGB1 56104 genome.wustl.edu 37 5 140731491 140731491 + Missense_Mutation SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_018922.2 +1 reviewed p.A555V 1.000 20 0% 29 27.6% 2 0% possibly_damaging(0.498) tolerated(0.06) deleterious(0.489) HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Cadherin-like PCDHGA4 56111 genome.wustl.edu 37 5 140736217 140736217 + Missense_Mutation SNP A A T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_018917.2 +1 reviewed p.N484Y 1.000 225 0% 226 37.6% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like HDAC3 8841 genome.wustl.edu 37 5 141008174 141008174 + Missense_Mutation SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_003883.3 -1 reviewed p.R215C 1.000 106 0% 115 33.9% 65 41.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Hist_deacetyl,superfamily_Arginase/deacetylase G3BP1 10146 genome.wustl.edu 37 5 151179895 151179895 + Missense_Mutation SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_005754.2 +1 reviewed p.D358N 1.000 166 0% 163 31.3% 52 36.5% unknown(0) tolerated(0.09) - HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD C5orf4 10826 genome.wustl.edu 37 5 154203063 154203063 + Silent SNP G G T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_032385.3 -1 validated p.P152 0.200 186 0% 166 33.7% 3 33.3% unknown(0) - - NULL EBF1 1879 genome.wustl.edu 37 5 158140014 158140014 + Missense_Mutation SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_024007.3 -1 validated p.V445M 0.998 172 0% 180 36.7% 9 0% possibly_damaging(0.768) deleterious(0.02) deleterious(0.668) NULL RANBP17 64901 genome.wustl.edu 37 5 170351478 170351478 + Silent SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_022897.2 +1 provisional p.F464 1.000 359 0% 333 31.2% 7 42.8% - - - superfamily_ARM repeat TBC1D9B 23061 genome.wustl.edu 37 5 179320259 179320259 + Missense_Mutation SNP C C A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_198868.2 -1 validated p.K262N 0.941 46 0% 66 34.8% 53 64.1% benign(0.13) tolerated(0.09) neutral(0.307) NULL RIPK1 8737 genome.wustl.edu 37 6 3089839 3089842 + Frame_Shift_Del DEL TTTA TTTA - novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 TTTA TTTA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_003804.3 +1 validated p.Y289fs 1.000:0.995:0.998:0.987 - - - - - - - - - HMMSmart_SM00220 JARID2 3720 genome.wustl.edu 37 6 15507446 15507446 + Missense_Mutation SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_004973.2 +1 reviewed p.G874D 1.000 132 0% 153 17% 17 35.2% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ZNF184 7738 genome.wustl.edu 37 6 27420670 27420670 + Missense_Mutation SNP T T C novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_007149.2 -1 validated p.K223R 0.999 210 0% 150 37.3% 0 - probably_damaging(0.994) deleterious(0.02) deleterious(0.835) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers HIST1H2BO 8348 genome.wustl.edu 37 6 27861416 27861416 + Missense_Mutation SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_003527.4 +1 reviewed p.A59V 1.000 122 0% 174 27% 3 33.3% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_H2B,HMMPfam_Histone,superfamily_Histone-fold ZSCAN12 9753 genome.wustl.edu 37 6 28358526 28358526 + Missense_Mutation SNP T T C novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b ENST00000361028 -1 known p.E514G 0.001 151 0% 162 32.7% 0 - possibly_damaging(0.662) tolerated(0.29) neutral(0.263) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 BAG6 7917 genome.wustl.edu 37 6 31612090 31612090 + Missense_Mutation SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b ENST00000404765 -1 known p.A517T 1.000 22 0% 36 30.6% 86 73.2% probably_damaging(0.98) tolerated(0.32) neutral(0.448) NULL ATF6B 1388 genome.wustl.edu 37 6 32089055 32089055 + Silent SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_004381.4 -1 reviewed p.A183 0.355 131 0% 198 39.9% 65 47.6% - - - NULL FKBPL 63943 genome.wustl.edu 37 6 32096687 32096687 + Silent SNP G G T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_022110.3 -1 reviewed p.R291 1.000 108 0% 102 39.2% 5 80% - - - HMMPfam_TPR_1,HMMSmart_TPR,superfamily_SSF48452 ITPR3 3710 genome.wustl.edu 37 6 33635636 33635636 + Missense_Mutation SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_002224.2 +1 validated p.T594I 1.000 182 0% 199 37.2% 17 41.1% possibly_damaging(0.746) deleterious(0) deleterious(0.719) HMMPfam_RYDR_ITPR,superfamily_SSF100909 LRFN2 57497 genome.wustl.edu 37 6 40400349 40400349 + Silent SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_020737.1 -1 provisional p.S168 0.006 132 0.8% 136 31.6% 0 - - - - HMMPfam_LRR_1,HMMSmart_SM00369,superfamily_L domain-like TREM1 54210 genome.wustl.edu 37 6 41248741 41248741 + Missense_Mutation SNP G G T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_018643.2 -1 provisional p.P186H 0.004 513 0% 470 32.1% 17 0% probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL TAF8 129685 genome.wustl.edu 37 6 42025185 42025185 + Silent SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_138572.2 +1 reviewed p.P141 0.603 130 0% 151 35.8% 36 36.1% - - - NULL TRERF1 55809 genome.wustl.edu 37 6 42227461 42227461 + Missense_Mutation SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_033502.2 -1 reviewed p.E629K 1.000 62 0% 75 32% 1 0% possibly_damaging(0.925) deleterious(0.01) deleterious(0.779) NULL MEP1A 4224 genome.wustl.edu 37 6 46806777 46806777 + Silent SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_005588.2 +1 validated p.H715 0.391 71 0% 100 22% 0 - - - - superfamily_SSF57196 DST 667 genome.wustl.edu 37 6 56469288 56469288 + Missense_Mutation SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b ENST00000370769 -1 known p.A3169T 0.001 53 0% 40 50% 0 - benign(0.008) tolerated(1) - NULL PHIP 55023 genome.wustl.edu 37 6 79668220 79668220 + Missense_Mutation SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_017934.5 -1 validated p.V1252M 1.000 110 0% 79 31.6% 0 - possibly_damaging(0.729) deleterious(0) deleterious(0.710) HMMSmart_SM00297,superfamily_Bromodomain CGA 1081 genome.wustl.edu 37 6 87797874 87797874 + Silent SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_000735.2 -1 reviewed p.L15 1.000 211 0% 187 13.4% 0 - - - - NULL ZNF292 23036 genome.wustl.edu 37 6 87969169 87969169 + Missense_Mutation SNP A A C novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_015021.1 +1 validated p.Q1941P 1.000 25 0% 32 25% 0 - probably_damaging(0.999) tolerated(0.14) deleterious(0.740) NULL MMS22L 253714 genome.wustl.edu 37 6 97627335 97627335 + Missense_Mutation SNP G G T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_198468.2 -1 predicted p.L829I 0.859 189 0% 129 31.8% 0 - possibly_damaging(0.84) tolerated(0.26) neutral(0.356) NULL SOBP 55084 genome.wustl.edu 37 6 107827628 107827628 + Missense_Mutation SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_018013.3 +1 validated p.A140T 1.000 108 0% 137 35.8% 1 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL KIAA1244 57221 genome.wustl.edu 37 6 138584202 138584202 + Missense_Mutation SNP C C A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_020340.4 +1 validated p.H528N 0.088 63 0% 70 34.3% 10 60% benign(0) tolerated(1) - NULL TXLNB 167838 genome.wustl.edu 37 6 139609844 139609844 + Missense_Mutation SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_153235.3 -1 validated p.D65N 1.000 279 0% 274 36.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL UTRN 7402 genome.wustl.edu 37 6 144858754 144858754 + Silent SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_007124.2 +1 reviewed p.R2090 0.000 151 0% 146 11% 3 0% - - - HMMSmart_SPEC,superfamily_Spectrin TULP4 56995 genome.wustl.edu 37 6 158735163 158735163 + Missense_Mutation SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_020245.3 +1 validated p.R39C 1.000 185 0% 176 20.5% 7 28.5% probably_damaging(1) deleterious(0) deleterious(0.945) NULL THBS2 7058 genome.wustl.edu 37 6 169632141 169632141 + Silent SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_003247.2 -1 reviewed p.S695 0.597 144 0% 190 33.7% 3 0% - - - superfamily_SSF103647 COX19 90639 genome.wustl.edu 37 7 1012825 1012825 + Missense_Mutation SNP C C A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_001031617.2 -1 validated p.R62S 0.980 266 0% 273 32.2% 4 25% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_CHCH MAD1L1 8379 genome.wustl.edu 37 7 1976404 1976404 + Missense_Mutation SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_001013836.1 -1 reviewed p.R576C 0.196 17 0% 28 39.3% 33 27.2% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_MAD LFNG 3955 genome.wustl.edu 37 7 2566829 2566829 + Missense_Mutation SNP C C A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_001040167.1 +1 reviewed p.R375S 0.003 85 0% 132 27.3% 27 22.2% benign(0.005) deleterious(0.04) neutral(0.349) NULL SDK1 221935 genome.wustl.edu 37 7 4167035 4167035 + Silent SNP C C T rs139165481 by1000genomes TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_152744.3 +1 validated p.N1282 0.317 169 0% 170 37.6% 1 0% - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III THSD7A 221981 genome.wustl.edu 37 7 11446941 11446941 + Missense_Mutation SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_015204.2 -1 validated p.G1303D 1.000 157 0% 138 37.7% 1 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat NFE2L3 9603 genome.wustl.edu 37 7 26225110 26225110 + Missense_Mutation SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_004289.6 +1 reviewed p.R598C 1.000 124 0% 106 34% 7 28.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_BRLZ,PatternScan_BZIP_BASIC,superfamily_Euk_transcr_DNA,HMMPfam_bZIP_1 CBX3 11335 genome.wustl.edu 37 7 26246036 26246036 + Missense_Mutation SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_007276.3 +1 reviewed p.A25T 1.000 284 0% 223 25.6% 14 21.4% benign(0.093) tolerated(0.36) neutral(0.027) superfamily_Chromo domain-like HOXA9 3205 genome.wustl.edu 37 7 27204919 27204919 + Missense_Mutation SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_152739.3 -1 reviewed p.P53L 1.000 6 0.000 13 0.385 0 - possibly_damaging(0.751) deleterious(0.02) deleterious(0.659) HMMPfam_Hox9_act AMPH 273 genome.wustl.edu 37 7 38466574 38466574 + Missense_Mutation SNP A A T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_001635.2 -1 reviewed p.S399T 0.932 275 0.4% 237 33.3% 0 - benign(0.001) tolerated(0.5) neutral(0.010) NULL VPS41 27072 genome.wustl.edu 37 7 38857473 38857473 + Missense_Mutation SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_014396.3 -1 reviewed p.V132M 0.999 263 0% 218 40.8% 7 28.5% possibly_damaging(0.46) deleterious(0.04) deleterious(0.500) superfamily_WD40 repeat-like C7orf25 79020 genome.wustl.edu 37 7 42949523 42949524 + Frame_Shift_Del DEL CT CT - novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 CT CT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_001099858.1 -1 validated p.R384fs 1.000:1.000 - - - - - - - - - HMMPfam_DUF1308 SBDS 51119 genome.wustl.edu 37 7 66456165 66456165 + Missense_Mutation SNP T T C novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_016038.2 -1 reviewed p.K195E 1.000 488 0% 508 35% 4 50% benign(0.001) tolerated(1) - HMMPfam_SBDS_C AUTS2 26053 genome.wustl.edu 37 7 70252292 70252292 + Silent SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_015570.2 +1 validated p.S802 1.000 42 2.4% 60 30% 7 42.8% - - - NULL POM121C 100101267 genome.wustl.edu 37 7 75051540 75051540 + Silent SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_001099415.1 -1 validated p.P665 0.000 141 0% 201 9% 16 25% - - - NULL CCL24 6369 genome.wustl.edu 37 7 75442687 75442687 + Missense_Mutation SNP G G T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_002991.2 -1 reviewed p.P43H 0.910 59 0% 94 30.9% 0 - probably_damaging(0.997) deleterious(0.02) deleterious(0.849) HMMPfam_IL8,HMMSmart_SCY,superfamily_Chemokine_IL8 ARPC1A 10552 genome.wustl.edu 37 7 98951746 98951746 + Splice_Site SNP T T C novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_006409.2 +1 reviewed e5+2 1.000 126 0% 180 35.6% 0 - - - - - ZNF498 221785 genome.wustl.edu 37 7 99227619 99227619 + Silent SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_145115.2 +1 validated p.H537 0.998 13 0% 13 30.8% 12 33.3% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers PVRIG 79037 genome.wustl.edu 37 7 99817897 99817897 + Silent SNP A A G novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_024070.3 +1 validated p.P93 0.300 46 0% 78 14.1% 9 66.6% - - - NULL LRRN3 54674 genome.wustl.edu 37 7 110762840 110762840 + Missense_Mutation SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_001099658.1 +1 validated p.M4I 1.000 179 0% 167 36.5% 0 - benign(0) tolerated(0.33) neutral(0.024) NULL LRRC4 64101 genome.wustl.edu 37 7 127670023 127670023 + Missense_Mutation SNP T T C novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_022143.4 -1 validated p.E224G 1.000 21 0% 18 22.2% 4 50% probably_damaging(0.957) deleterious(0.01) deleterious(0.806) HMMPfam_LRR_1,HMMSmart_SM00369,superfamily_L domain-like SVOPL 136306 genome.wustl.edu 37 7 138310793 138310793 + Missense_Mutation SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_001139456.1 -1 validated p.A395V 0.025 151 0% 144 28.5% 2 50% benign(0.011) tolerated(0.87) neutral(0.001) superfamily_MFS general substrate transporter ATP6V0A4 50617 genome.wustl.edu 37 7 138444498 138444498 + Missense_Mutation SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_020632.2 -1 reviewed p.T213M 1.000 118 0% 149 28.9% 3 33.3% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_V_ATPase_I LOC643438 643438 genome.wustl.edu 37 7 148334428 148334428 + RNA SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b XR_015310.2 +1 model NULL 0.994 110 0% 110 38.2% 0 - - - - - ATG9B 285973 genome.wustl.edu 37 7 150715498 150715498 + Silent SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_173681.5 -1 validated p.A585 0.882 18 0% 26 34.6% 1 100% - - - HMMPfam_APG9 PTPRN2 5799 genome.wustl.edu 37 7 157449064 157449064 + Silent SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_002847.3 -1 reviewed p.T727 1.000 79 0% 83 32.5% 0 - - - - superfamily_(Phosphotyrosine protein) phosphatases II ARHGEF10 9639 genome.wustl.edu 37 8 1905104 1905104 + Missense_Mutation SNP C C A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_014629.2 +1 reviewed p.P1237H 0.000 72 0% 111 32.4% 8 62.5% benign(0.234) tolerated(0.06) neutral(0.346) NULL XKR6 286046 genome.wustl.edu 37 8 10756199 10756199 + Missense_Mutation SNP T T C novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_173683.3 -1 provisional p.M397V 1.000 161 0% 186 43.5% 0 - benign(0.066) deleterious(0) neutral(0.449) HMMPfam_XK-related DOK2 9046 genome.wustl.edu 37 8 21767296 21767296 + Silent SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_003974.2 -1 reviewed p.P255 0.092 172 0% 210 41% 10 0% - - - NULL PDLIM2 64236 genome.wustl.edu 37 8 22451333 22451333 + Silent SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_176871.2 +1 validated p.R323 0.003 73 0% 88 15.9% 35 0% - - - HMMPfam_LIM SLC25A37 51312 genome.wustl.edu 37 8 23386590 23386590 + Silent SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_016612.2 +1 provisional p.G25 1.000 21 0% 28 35.7% 15 33.3% - - - NULL TRIM35 23087 genome.wustl.edu 37 8 27168355 27168355 + Missense_Mutation SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_171982.3 -1 validated p.R133H 1.000 15 0% 21 33.3% 10 60% probably_damaging(0.998) deleterious(0.05) deleterious(0.820) HMMPfam_zf-B_box,HMMSmart_SM00336 TRPA1 8989 genome.wustl.edu 37 8 72967731 72967731 + Missense_Mutation SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_007332.2 -1 reviewed p.A490V 1.000 198 0% 162 37% 0 - probably_damaging(0.96) deleterious(0.01) deleterious(0.808) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat STAU2 27067 genome.wustl.edu 37 8 74525998 74525998 + Missense_Mutation SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_014393.2 -1 reviewed p.R259H 1.000 186 0% 131 35.9% 0 - probably_damaging(0.998) tolerated(0.07) deleterious(0.793) NULL WWP1 11059 genome.wustl.edu 37 8 87460686 87460686 + Silent SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_007013.3 +1 validated p.L739 1.000 256 0% 237 33.8% 4 25% - - - HMMPfam_HECT,HMMSmart_SM00119,superfamily_Hect E3 ligase catalytic domain OSGIN2 734 genome.wustl.edu 37 8 90937237 90937237 + Missense_Mutation SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_001126111.1 +1 validated p.R376H 1.000 143 0% 137 33.6% 3 33.3% probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_FAD/NAD(P)-binding domain NBN 4683 genome.wustl.edu 37 8 90949269 90949269 + Missense_Mutation SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_002485.4 -1 reviewed p.A740V 1.000 260 0% 213 25.4% 2 50% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Nbs1_C DSCC1 79075 genome.wustl.edu 37 8 120867983 120867983 + Missense_Mutation SNP T T A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_024094.2 -1 validated p.N18I 1.000 18 0% 31 48.4% 2 50% possibly_damaging(0.455) deleterious(0.01) deleterious(0.554) NULL TRMT12 55039 genome.wustl.edu 37 8 125463285 125463285 + Missense_Mutation SNP G G T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_017956.3 +1 validated p.R39S 0.789 221 0% 200 36% 5 40% benign(0) tolerated(0.53) neutral(0.007) NULL PHF20L1 51105 genome.wustl.edu 37 8 133806801 133806801 + Missense_Mutation SNP G G T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_016018.4 +1 validated p.G77W 1.000 199 0.5% 157 36.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Tudor/PWWP/MBT NAPRT1 93100 genome.wustl.edu 37 8 144657594 144657594 + Silent SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_145201.4 -1 validated p.D430 0.009 40 0% 59 33.9% 224 34.8% - - - superfamily_Nicotinate/Quinolinate PRTase C-terminal domain-like ARHGAP39 80728 genome.wustl.edu 37 8 145770812 145770812 + Missense_Mutation SNP C C A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_025251.1 -1 validated p.R781L 1.000 57 0% 75 41.3% 20 60% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_MyTH4,HMMSmart_SM00139 TYRP1 7306 genome.wustl.edu 37 9 12708024 12708024 + Missense_Mutation SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_000550.2 +1 reviewed p.A430V 1.000 109 0% 123 38.2% 0 - possibly_damaging(0.762) deleterious(0) deleterious(0.727) superfamily_Di-copper_centre ADAMTSL1 92949 genome.wustl.edu 37 9 18889711 18889711 + Silent SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_001040272.4 +1 validated p.Q1536 0.929 39 0% 53 35.8% 10 60% - - - HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat RPS6 6194 genome.wustl.edu 37 9 19376329 19376329 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_001010.2 -1 reviewed p.R238* 1.000 110 0% 98 39.8% 339 61.9% - - - NULL AQP3 360 genome.wustl.edu 37 9 33442166 33442166 + Missense_Mutation SNP G G T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_004925.3 -1 reviewed p.L252M 1.000 18 0% 32 46.9% 147 41.4% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_MIP,superfamily_Aquaporin-like LOC642406 642406 genome.wustl.edu 37 9 40503182 40503182 + Missense_Mutation SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b XM_002344253.1 -1 model p.T255I 0.001 106 0% 97 22.7% 3 0% - - - HMMSmart_SM00282,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2 ZNF658 26149 genome.wustl.edu 37 9 40774963 40774963 + Silent SNP G G T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_033160.5 -1 validated p.I104 0.000 42 0% 48 37.5% 0 - - - - NULL TJP2 9414 genome.wustl.edu 37 9 71852823 71852823 + Missense_Mutation SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_004817.3 +1 reviewed p.G737S 1.000 281 0% 270 34.1% 6 83.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00072,superfamily_P-loop containing nucleoside triphosphate hydrolases SMC5 23137 genome.wustl.edu 37 9 72967220 72967220 + Silent SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_015110.3 +1 validated p.R1093 0.897 129 0% 112 42.9% 0 - - - - NULL ZNF510 22869 genome.wustl.edu 37 9 99538316 99538316 + Silent SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_014930.1 -1 provisional p.V12 0.074 239 0% 212 31.1% 3 100% - - - NULL CTSL2 1515 genome.wustl.edu 37 9 99799010 99799010 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_001333.2 -1 reviewed p.W139* 1.000 137 0% 125 14.4% 314 0.6% - - - PatternScan_THIOL_PROTEASE_CYS,HMMPfam_Peptidase_C1,HMMSmart_Pept_C1,superfamily_SSF54001 COL27A1 85301 genome.wustl.edu 37 9 116930187 116930187 + Missense_Mutation SNP C C A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_032888.2 +1 validated p.R118S 0.998 30 0% 38 39.5% 10 40% probably_damaging(0.981) tolerated(0.06) deleterious(0.748) HMMSmart_SM00210,superfamily_Concanavalin A-like lectins/glucanases FAM129B 64855 genome.wustl.edu 37 9 130279252 130279252 + Missense_Mutation SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_022833.2 -1 validated p.R286H 0.030 73 0% 89 39.3% 178 46% benign(0.001) tolerated(0.65) neutral(0.003) NULL CERCAM 51148 genome.wustl.edu 37 9 131198123 131198123 + Missense_Mutation SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_016174.4 +1 validated p.R576H 0.058 12 0% 37 40.5% 25 24% benign(0.006) tolerated(0.22) neutral(0.042) NULL ADAMTS13 11093 genome.wustl.edu 37 9 136321278 136321278 + Missense_Mutation SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_139025.3 +1 reviewed p.R1219Q 0.258 63 0% 64 40.6% 6 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Spermadhesin CUB domain CAMSAP1 157922 genome.wustl.edu 37 9 138710417 138710417 + Silent SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_015447.3 -1 validated p.A1335 0.002 111 0% 110 35.5% 20 30% - - - NULL NOTCH1 4851 genome.wustl.edu 37 9 139396913 139396913 + Missense_Mutation SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_017617.3 -1 reviewed p.A1732V 0.003 4 0.000 11 0.455 9 22.2% benign(0) tolerated(0.39) neutral(0.016) HMMPfam_NODP FAM69B 138311 genome.wustl.edu 37 9 139617928 139617928 + Missense_Mutation SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_152421.3 +1 validated p.R333H 0.821 10 0% 37 35.1% 131 48% benign(0.008) tolerated(0.42) neutral(0.014) NULL LCN15 389812 genome.wustl.edu 37 9 139658342 139658342 + Silent SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_203347.1 -1 provisional p.H72 0.003 67 0% 105 29.5% 0 - - - - HMMPfam_Lipocalin,superfamily_Calycin CELF2 10659 genome.wustl.edu 37 10 11259447 11259447 + Missense_Mutation SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_006561.3 +1 reviewed p.H111Y 1.000 345 0.3% 269 32.3% 1 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD NMT2 9397 genome.wustl.edu 37 10 15172253 15172253 + Missense_Mutation SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_004808.2 -1 reviewed p.R260W 1.000 109 0% 98 27.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_NMT,superfamily_Acyl-CoA N-acyltransferases (Nat) ARHGAP12 94134 genome.wustl.edu 37 10 32197451 32197451 + Silent SNP A A G novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_018287.5 -1 provisional p.P111 0.997 140 0% 114 36% 2 100% - - - NULL ANK3 288 genome.wustl.edu 37 10 61828706 61828706 + Missense_Mutation SNP G G C novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_020987.2 -1 reviewed p.T3978S 0.999 165 0% 166 38.6% 0 - benign(0) - - NULL PTEN 5728 genome.wustl.edu 37 10 89692904 89692904 + Missense_Mutation SNP C C G rs121909224 byCluster TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b ENST00000371953 +1 known p.R130G 1.000 272 0% 266 34.2% 10 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DSPc,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1,superfamily_(Phosphotyrosine protein) phosphatases II PTEN 5728 genome.wustl.edu 37 10 89717695 89717695 + Nonsense_Mutation SNP C C G rs190070312 by1000genomes TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b ENST00000371953 +1 known p.Y240* 1.000 219 0% 200 32% 33 18.1% - - - superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_PTEN_C2 EXOC6 54536 genome.wustl.edu 37 10 94669266 94669266 + Missense_Mutation SNP A A G novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_019053.4 +1 reviewed p.M181V 1.000 142 0% 136 29.4% 1 100% probably_damaging(0.995) deleterious(0.01) deleterious(0.863) NULL LCOR 84458 genome.wustl.edu 37 10 98715396 98715396 + Missense_Mutation SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_032440.3 +1 validated p.R340Q 1.000 83 0% 101 35.6% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL RRP12 23223 genome.wustl.edu 37 10 99160849 99160849 + Splice_Site SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_015179.3 -1 validated e1+1 1.000 55 0% 56 37.5% 2 100% - - - - ABCC2 1244 genome.wustl.edu 37 10 101591842 101591842 + Missense_Mutation SNP T T G novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_000392.3 +1 reviewed p.F1071C 1.000 256 0% 243 42.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_ABC_membrane,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain PKD2L1 9033 genome.wustl.edu 37 10 102058385 102058385 + Missense_Mutation SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_016112.2 -1 reviewed p.S222N 1.000 138 0% 148 28.4% 0 - benign(0) tolerated(0.43) neutral(0.013) HMMPfam_PKD_channel XPNPEP1 7511 genome.wustl.edu 37 10 111651532 111651532 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_020383.3 -1 reviewed p.Y78* 1.000 326 0% 297 35% 23 47.8% - - - HMMPfam_Creatinase_N HSPA12A 259217 genome.wustl.edu 37 10 118434792 118434792 + Missense_Mutation SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_025015.2 -1 validated p.V510M 1.000 24 0% 38 34.2% 1 0% probably_damaging(0.998) tolerated(0.06) deleterious(0.797) superfamily_SSF53067 GRK5 2869 genome.wustl.edu 37 10 121207764 121207764 + Missense_Mutation SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_005308.2 +1 reviewed p.V466I 0.460 82 0% 103 27.2% 4 0% benign(0) tolerated(0.49) neutral(0.011) HMMSmart_S_TK_X,superfamily_Kinase_like ATE1 11101 genome.wustl.edu 37 10 123662085 123662085 + Missense_Mutation SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_001001976.1 -1 reviewed p.R212W 1.000 269 0% 261 29.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL ACADSB 36 genome.wustl.edu 37 10 124802660 124802660 + Silent SNP C C A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_001609.3 +1 reviewed p.T260 0.998 179 0% 165 33.3% 1 100% - - - superfamily_Acyl-CoA dehydrogenase NM domain-like PIDD 55367 genome.wustl.edu 37 11 799897 799897 + Missense_Mutation SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_145886.2 -1 reviewed p.R798C 0.979 12 0% 19 21.1% 29 34.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Death,HMMSmart_SM00005,superfamily_DEATH domain MRGPRE 116534 genome.wustl.edu 37 11 3249755 3249755 + Missense_Mutation SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_001039165.2 -1 validated p.P91L 0.009 55 0% 68 39.7% 0 - benign(0.066) tolerated(0.73) neutral(0.006) HMMPfam_7tm_1,superfamily_SSF81321 CHRNA10 57053 genome.wustl.edu 37 11 3687577 3687577 + Silent SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_020402.2 -1 provisional p.S371 0.620 52 0% 61 24.6% 1 0% - - - HMMPfam_Neur_chan_memb,superfamily_Neu_channel_TM ENSG00000186232 0 genome.wustl.edu 37 11 4351478 4351478 + Missense_Mutation SNP G G C novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b ENST00000334468 +1 known p.Q128H 1.000 22 0% 38 31.6% 0 - - - - HMMPfam_Ssu72 MRVI1 10335 genome.wustl.edu 37 11 10622483 10622483 + Missense_Mutation SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_001098579.1 -1 reviewed p.R658C 1.000 178 0% 182 40.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_MRVI1 MICAL2 9645 genome.wustl.edu 37 11 12237867 12237867 + Splice_Site SNP G G T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_014632.2 +1 provisional e6+1 1.000 121 0% 137 33.6% 3 100% - - - - ARNTL 406 genome.wustl.edu 37 11 13387107 13387107 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_001030272.1 +1 reviewed p.E174* 1.000 381 0% 351 37.9% 3 0% - - - HMMSmart_PAS,HMMPfam_PAS,superfamily_SSF55785 MYOD1 4654 genome.wustl.edu 37 11 17741690 17741690 + Missense_Mutation SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_002478.4 +1 reviewed p.R121C 1.000 12 0% 11 45.5% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HLH,HMMSmart_HLH,superfamily_HLH_basic NAV2 89797 genome.wustl.edu 37 11 20117243 20117243 + Missense_Mutation SNP T T A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_182964.5 +1 validated p.I1984N 1.000 481 0% 500 34% 8 25% probably_damaging(0.996) deleterious(0.01) deleterious(0.867) NULL ACCS 84680 genome.wustl.edu 37 11 44096218 44096218 + Missense_Mutation SNP T T C novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_001127219.1 +1 validated p.L159P 1.000 193 0% 195 32.3% 34 11.7% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Aminotran_1_2,superfamily_PyrdxlP-dep_Trfase_major PTPRJ 5795 genome.wustl.edu 37 11 48188871 48188871 + Missense_Mutation SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_002843.3 +1 reviewed p.A1324V 0.003 211 0% 233 33% 2 0% benign(0.253) tolerated(0.14) neutral(0.276) NULL OR5T1 390155 genome.wustl.edu 37 11 56044076 56044076 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_001004745.1 +1 provisional p.W321* 0.000 55 0% 64 32.8% 0 - - - - superfamily_Family A G protein-coupled receptor-like OSBP 5007 genome.wustl.edu 37 11 59376069 59376069 + Missense_Mutation SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_002556.2 -1 reviewed p.R237H 1.000 173 0% 158 38.6% 15 33.3% probably_damaging(0.994) deleterious(0) deleterious(0.897) NULL C11orf9 745 genome.wustl.edu 37 11 61533505 61533505 + Silent SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_001127392.1 +1 validated p.S70 0.014 5 0.000 9 0.444 0 - - - - NULL RASGRP2 10235 genome.wustl.edu 37 11 64503137 64503137 + Splice_Site SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_001098670.1 -1 reviewed e10-1 1.000 95 0% 179 34.1% 0 - - - - - SPTBN2 6712 genome.wustl.edu 37 11 66475076 66475076 + Missense_Mutation SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_006946.2 -1 reviewed p.A522T 1.000 26 0% 28 32.1% 13 61.5% benign(0.202) tolerated(0.05) neutral(0.365) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat PC 5091 genome.wustl.edu 37 11 66617225 66617227 + In_Frame_Del DEL CCT CCT - novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 CCT CCT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_000920.3 -1 reviewed p.E1001in_frame_del 0.995:0.981:1.000 - - - - - - - - - HMMPfam_PYC_OADA,superfamily_SSF89000 CARNS1 57571 genome.wustl.edu 37 11 67191928 67191928 + Silent SNP C C T rs190057931 by1000genomes TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_020811.1 +1 validated p.G780 0.070 45 0% 46 41.3% 3 0% - - - superfamily_Glutathione synthetase ATP-binding domain-like LRP5 4041 genome.wustl.edu 37 11 68177484 68177484 + Missense_Mutation SNP C C A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_002335.2 +1 reviewed p.L732I 1.000 119 0% 144 41.7% 62 46.7% possibly_damaging(0.68) tolerated(0.93) neutral(0.242) HMMPfam_Ldl_recept_b,HMMSmart_SM00135,superfamily_YWTD domain PPP6R3 55291 genome.wustl.edu 37 11 68341614 68341614 + Missense_Mutation SNP C C A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_018312.4 +1 validated p.L410I 1.000 230 0% 207 36.7% 30 60% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_SAPS CCND1 595 genome.wustl.edu 37 11 69466021 69466021 + Missense_Mutation SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_053056.2 +1 reviewed p.P287S 1.000 18 0% 22 31.8% 21 47.6% probably_damaging(1) deleterious(0) deleterious(0.945) NULL USP35 57558 genome.wustl.edu 37 11 77921626 77921626 + Missense_Mutation SNP G G C novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_020798.2 +1 provisional p.V909L 1.000 136 0% 121 35.5% 5 60% unknown(0) tolerated(1) - HMMPfam_UCH,superfamily_Cysteine proteinases PRCP 5547 genome.wustl.edu 37 11 82564222 82564222 + Silent SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_199418.2 -1 reviewed p.F157 1.000 177 0% 135 40% 10 30% - - - HMMPfam_Peptidase_S28,superfamily_SSF53474 DLG2 1740 genome.wustl.edu 37 11 83676499 83676499 + Missense_Mutation SNP T T C novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_001142699.1 -1 reviewed p.S357G 1.000 407 0% 370 23% 0 - benign(0.001) tolerated(0.49) neutral(0.011) HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like HEPHL1 341208 genome.wustl.edu 37 11 93819199 93819200 + Frame_Shift_Del DEL AG AG - novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 AG AG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_001098672.1 +1 validated p.R642fs 0.987:0.996 - - - - - - - - - superfamily_Cupredoxin MTMR2 8898 genome.wustl.edu 37 11 95568541 95568541 + Missense_Mutation SNP C C G novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_016156.5 -1 reviewed p.Q615H 1.000 301 0% 285 38.2% 10 30% benign(0.057) tolerated(0.05) neutral(0.349) NULL MAML2 84441 genome.wustl.edu 37 11 95825653 95825653 + Missense_Mutation SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_032427.1 -1 validated p.M514I 1.000 73 0% 77 28.6% 6 50% unknown(0) tolerated(0.13) - NULL PHLDB1 23187 genome.wustl.edu 37 11 118518698 118518698 + Missense_Mutation SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_001144758.1 +1 validated p.R1187H 1.000 209 0% 251 39% 34 35.2% probably_damaging(0.99) deleterious(0.01) deleterious(0.847) NULL CBL 867 genome.wustl.edu 37 11 119103241 119103241 + Silent SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_005188.2 +1 reviewed p.Q93 1.000 171 0% 177 40.7% 1 0% - - - HMMPfam_Cbl_N,superfamily_Adaptor_Cbl_N UBASH3B 84959 genome.wustl.edu 37 11 122653760 122653760 + Splice_Site DEL G G - novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_032873.4 +1 validated e5-1 1.000 - - - - - - - - - - FOXRED1 55572 genome.wustl.edu 37 11 126142924 126142924 + Missense_Mutation SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_017547.2 +1 provisional p.E123K 0.909 398 0% 416 31.5% 13 53.8% probably_damaging(0.991) tolerated(0.08) deleterious(0.744) HMMPfam_DAO,superfamily_FAD/NAD(P)-binding domain C11orf45 219833 genome.wustl.edu 37 11 128773290 128773290 + Missense_Mutation SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_145013.1 -1 provisional p.V85I 0.000 82 0% 96 42.7% 1 0% unknown(0) - - NULL ST14 6768 genome.wustl.edu 37 11 130066280 130066280 + Missense_Mutation SNP T T C novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_021978.3 +1 reviewed p.L387P 0.509 82 0% 100 40% 242 49.5% possibly_damaging(0.948) deleterious(0.02) deleterious(0.774) HMMPfam_CUB,HMMSmart_CUB,superfamily_CUB SLC6A13 6540 genome.wustl.edu 37 12 330182 330182 + Missense_Mutation SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_016615.2 -1 provisional p.G581R 0.004 112 0% 133 38.3% 0 - benign(0.001) tolerated(0.53) neutral(0.007) NULL KCNA5 3741 genome.wustl.edu 37 12 5153711 5153711 + Missense_Mutation SNP C C G novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_002234.2 +1 reviewed p.T133R 1.000 23 0% 38 28.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00225,HMMPfam_K_tetra,superfamily_POZ domain USP5 8078 genome.wustl.edu 37 12 6972496 6972496 + Missense_Mutation SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_001098536.1 +1 validated p.E637K 1.000 228 0% 234 28.2% 1 0% benign(0.139) tolerated(0.4) neutral(0.028) HMMPfam_UCH,superfamily_Cysteine proteinases GRIN2B 2904 genome.wustl.edu 37 12 13716503 13716503 + Silent SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_000834.3 -1 reviewed p.H1223 1.000 121 0% 138 33.3% 0 - - - - HMMPfam_NMDAR2_C LOC728622 728622 genome.wustl.edu 37 12 17142133 17142133 + Missense_Mutation SNP T T C novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b XM_001130365.3 +1 model p.V25A 1.000 88 1.1% 112 31.2% 0 - - - - HMMSmart_SM00512,superfamily_POZ domain,HMMPfam_Skp1_POZ C12orf39 80763 genome.wustl.edu 37 12 21679818 21679818 + Splice_Site SNP A A G novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_030572.2 +1 provisional e2-2 0.832 386 0% 286 35.7% 0 - - - - - LRMP 4033 genome.wustl.edu 37 12 25259932 25259932 + Missense_Mutation SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_006152.2 +1 reviewed p.P402S 0.993 141 0% 121 27.3% 1 0% benign(0.01) deleterious(0.01) neutral(0.406) HMMPfam_MRVI1 ASUN 55726 genome.wustl.edu 37 12 27064214 27064214 + Silent SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_018164.2 -1 validated p.L614 1.000 341 0% 270 37.4% 3 66.6% - - - HMMPfam_DUF2151 CNTN1 1272 genome.wustl.edu 37 12 41312548 41312548 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_001843.2 +1 reviewed p.R68* 0.998 185 0% 188 35.1% 0 - - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin ADAMTS20 80070 genome.wustl.edu 37 12 43944952 43944952 + Silent SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_025003.3 -1 validated p.L71 0.635 151 0% 147 32.7% 0 - - - - HMMPfam_Pep_M12B_propep ADCY6 112 genome.wustl.edu 37 12 49164673 49164673 + Silent SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_015270.3 -1 reviewed p.N1044 0.528 126 0% 148 33.8% 32 50% - - - HMMPfam_Guanylate_cyc,HMMSmart_SM00044,superfamily_Adenylyl and guanylyl cyclase catalytic domain FMNL3 91010 genome.wustl.edu 37 12 50044573 50044573 + Missense_Mutation SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_175736.4 -1 validated p.A629V 0.983 432 0% 374 36.4% 9 22.2% benign(0.093) tolerated(0.29) neutral(0.036) HMMSmart_FH2,HMMPfam_FH2,superfamily_FH2_actin_bd LARP4 113251 genome.wustl.edu 37 12 50869510 50869510 + Silent SNP C C A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_199188.2 +1 validated p.R686 1.000 120 0% 121 33.9% 4 50% - - - NULL SCN8A 6334 genome.wustl.edu 37 12 52200866 52200866 + Missense_Mutation SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_014191.2 +1 reviewed p.R1866W 1.000 73 0% 85 42.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL ITGA5 3678 genome.wustl.edu 37 12 54793513 54793513 + Silent SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_002205.2 -1 reviewed p.L919 1.000 78 0% 95 35.8% 9 0% - - - HMMPfam_Integrin_alpha2,superfamily_SSF69179 NCKAP1L 3071 genome.wustl.edu 37 12 54936412 54936412 + Silent SNP T T C novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_005337.4 +1 reviewed p.P1109 0.972 276 0% 307 40.4% 15 0% - - - HMMPfam_Nckap1 NEUROD4 58158 genome.wustl.edu 37 12 55421002 55421002 + Missense_Mutation SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_021191.2 +1 validated p.S260N 1.000 159 0% 192 37% 0 - possibly_damaging(0.869) tolerated(1) neutral(0.337) NULL LRP1 4035 genome.wustl.edu 37 12 57556224 57556224 + Missense_Mutation SNP C C A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_002332.2 +1 reviewed p.P776H 0.542 132 0% 177 32.8% 4 25% benign(0.159) deleterious(0.05) neutral(0.359) superfamily_YWTD domain LRP1 4035 genome.wustl.edu 37 12 57605766 57605766 + Missense_Mutation SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_002332.2 +1 reviewed p.G4439R 0.986 464 0% 542 28.8% 93 26.8% possibly_damaging(0.708) deleterious(0.04) deleterious(0.605) NULL OTOGL 283310 genome.wustl.edu 37 12 80750215 80750215 + Silent SNP T T C novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b ENST00000298820 +1 known p.V376A 1.000 115 0% 106 32.1% 0 - - - - NULL PPFIA2 8499 genome.wustl.edu 37 12 81833826 81833826 + Splice_Site SNP C C A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_003625.2 -1 reviewed e5-1 1.000 210 0% 163 38% 0 - - - - - USP30 84749 genome.wustl.edu 37 12 109509480 109509480 + Missense_Mutation SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_032663.3 +1 validated p.R182W 0.993 267 0% 294 13.6% 3 0% probably_damaging(0.995) deleterious(0.01) deleterious(0.863) HMMPfam_UCH,superfamily_SSF54001 CUX2 23316 genome.wustl.edu 37 12 111731306 111731306 + Missense_Mutation SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_015267.3 +1 validated p.P165S 0.570 81 0% 155 34.8% 0 - possibly_damaging(0.811) tolerated(0.2) neutral(0.354) NULL LHX5 64211 genome.wustl.edu 37 12 113906001 113906001 + Silent SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_022363.2 -1 reviewed p.T202 0.991 85 0% 93 25.8% 0 - - - - HMMPfam_Homeobox,HMMSmart_HOX,superfamily_Homeodomain_like TBX3 6926 genome.wustl.edu 37 12 115109929 115109929 + Missense_Mutation SNP G G T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_016569.3 -1 reviewed p.P650Q 0.772 31 0% 30 40% 6 66.6% possibly_damaging(0.912) deleterious(0) deleterious(0.808) NULL PXN 5829 genome.wustl.edu 37 12 120651943 120651943 + Silent SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_001080855.1 -1 validated p.P452 0.635 69 0% 78 37.2% 76 42.1% - - - HMMPfam_LIM,HMMSmart_SM00132,superfamily_Glucocorticoid receptor-like (DNA-binding domain) SRSF9 8683 genome.wustl.edu 37 12 120901824 120901824 + Missense_Mutation SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_003769.2 -1 validated p.E151K 1.000 352 0% 390 31.3% 479 41.1% possibly_damaging(0.694) deleterious(0) deleterious(0.694) HMMPfam_RRM_1,HMMSmart_RRM,superfamily_SSF54928 SLC15A4 121260 genome.wustl.edu 37 12 129299428 129299428 + Missense_Mutation SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_145648.3 -1 validated p.S245N 0.950 175 0% 209 37.8% 25 36% benign(0.007) tolerated(0.54) neutral(0.007) HMMPfam_PTR2,superfamily_MFS general substrate transporter EP400 57634 genome.wustl.edu 37 12 132522340 132522340 + Splice_Site SNP T T C novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_015409.3 +1 validated e30+2 1.000 137 0% 154 35.7% 1 100% - - - - CHFR 55743 genome.wustl.edu 37 12 133430022 133430022 + Missense_Mutation SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_018223.2 -1 validated p.T427M 0.000 23 0% 32 28.1% 15 26.6% possibly_damaging(0.824) deleterious(0.02) deleterious(0.695) NULL MTUS2 23281 genome.wustl.edu 37 13 30054352 30054352 + Missense_Mutation SNP G G T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_001033602.2 +1 validated p.D1094Y 0.981 57 0% 64 29.7% 0 - - - - NULL MLNR 2862 genome.wustl.edu 37 13 49796243 49796243 + Missense_Mutation SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b ENST00000398307 +1 known p.H374Y 0.477 214 0% 238 32.8% 1 100% unknown(0) - - NULL CLYBL 171425 genome.wustl.edu 37 13 100517211 100517211 + Missense_Mutation SNP A A G novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b ENST00000416504 +1 known p.Y144C 0.000 156 0% 149 26.8% 0 - probably_damaging(0.997) deleterious(0.01) deleterious(0.872) NULL BIVM 54841 genome.wustl.edu 37 13 103492161 103492161 + Silent SNP T T C novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_017693.3 +1 validated p.H486 0.542 104 0% 121 44.6% 6 66.6% - - - NULL ING1 3621 genome.wustl.edu 37 13 111365324 111365324 + Nonsense_Mutation SNP G G T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_198217.1 +1 reviewed p.E2* 0.000 25 0% 27 33.3% 0 - - - - NULL ARHGEF7 8874 genome.wustl.edu 37 13 111932909 111932909 + Missense_Mutation SNP T T C novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_001113511.1 +1 reviewed p.V558A 0.992 172 0.6% 205 36.1% 23 39.1% probably_damaging(0.995) tolerated(0.52) neutral(0.466) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like TUBGCP3 10426 genome.wustl.edu 37 13 113176744 113176744 + Silent SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_006322.4 -1 provisional p.L545 0.002 130 0% 124 33.1% 3 66.6% - - - HMMPfam_Spc97_Spc98 FOXG1 2290 genome.wustl.edu 37 14 29237879 29237879 + Missense_Mutation SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_005249.3 +1 reviewed p.T465M 1.000 108 0% 126 38.9% 0 - probably_damaging(0.976) deleterious(0) deleterious(0.863) NULL TMX1 81542 genome.wustl.edu 37 14 51712043 51712043 + Missense_Mutation SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_030755.4 +1 validated p.R94Q 1.000 448 0% 388 32.2% 15 33.3% probably_damaging(0.996) tolerated(0.05) deleterious(0.807) superfamily_Thioredoxin-like,HMMPfam_Thioredoxin PPM1A 5494 genome.wustl.edu 37 14 60752341 60752341 + Splice_Site SNP G G T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_177952.2 +1 reviewed e3-1 1.000 157 0% 134 40.3% 0 - - - - - TTLL5 23093 genome.wustl.edu 37 14 76211872 76211872 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_015072.4 +1 reviewed p.R479* 0.999 470 0.2% 407 32.4% 6 16.6% - - - NULL ATXN3 4287 genome.wustl.edu 37 14 92537316 92537316 + Silent SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_004993.5 -1 reviewed p.R318 0.061 144 0% 149 38.9% 10 50% - - - NULL SERPINA4 5267 genome.wustl.edu 37 14 95035833 95035833 + Silent SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_006215.2 +1 provisional p.H395 0.000 146 0% 152 27.6% 11 54.5% - - - HMMPfam_Serpin,HMMSmart_SERPIN,superfamily_Prot_inh_serpin CDC42BPB 9578 genome.wustl.edu 37 14 103434809 103434809 + Missense_Mutation SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_006035.3 -1 reviewed p.R747Q 1.000 218 0% 191 19.4% 6 0% possibly_damaging(0.934) tolerated(0.29) neutral(0.409) NULL XRCC3 7517 genome.wustl.edu 37 14 104169586 104169586 + Missense_Mutation SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_001100118.1 -1 reviewed p.R162H 1.000 73 0% 94 35.1% 5 40% possibly_damaging(0.791) tolerated(0.36) neutral(0.317) HMMPfam_Rad51,superfamily_P-loop containing nucleoside triphosphate hydrolases PPP1R13B 23368 genome.wustl.edu 37 14 104206283 104206283 + Missense_Mutation SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_015316.2 -1 reviewed p.V824M 0.611 106 0.9% 132 38.6% 46 50% possibly_damaging(0.51) tolerated(0.22) neutral(0.213) NULL TMEM179 388021 genome.wustl.edu 37 14 105061517 105061517 + Silent SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_207379.1 -1 provisional p.Q169 1.000 121 0% 166 41.6% 0 - - - - NULL IGHG2 3501 genome.wustl.edu 37 14 106110879 106110879 + Silent SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b ENST00000390545 -1 known p.C83 0.535 425 0% 518 13.5% 893 0% - - - PatternScan_IG_MHC,HMMPfam_C1-set,HMMSmart_IGc1,superfamily_SSF48726 IGHV4-28 28400 genome.wustl.edu 37 14 106780764 106780764 + Missense_Mutation SNP A A G novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b ENST00000390612 -1 known p.S34P 0.087 128 0.8% 154 32.5% 1 0% probably_damaging(0.995) deleterious(0.02) deleterious(0.841) HMMPfam_V-set,superfamily_SSF48726 FAM189A1 23359 genome.wustl.edu 37 15 29488646 29488646 + Silent SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_015307.1 -1 validated p.R170 0.995 121 0% 116 31% 0 - - - - NULL ENSG00000221138 0 genome.wustl.edu 37 15 33256249 33256249 + RNA SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b ENST00000408211 -1 novel NULL 0.013 87 0% 123 20.3% 0 - - - - - RYR3 6263 genome.wustl.edu 37 15 33952507 33952507 + Missense_Mutation SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_001036.3 +1 validated p.R1502H 1.000 100 1% 128 34.4% 0 - probably_damaging(0.999) - - NULL RYR3 6263 genome.wustl.edu 37 15 34105701 34105701 + Missense_Mutation SNP T T C novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_001036.3 +1 validated p.W3475R 1.000 111 0% 136 26.5% 0 - benign(0.366) - - NULL THBS1 7057 genome.wustl.edu 37 15 39886399 39886399 + Splice_Site SNP T T C novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_003246.2 +1 reviewed e19+2 1.000 213 0% 198 34.3% 0 - - - - - GCHFR 2644 genome.wustl.edu 37 15 41059477 41059477 + Missense_Mutation SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_005258.2 +1 reviewed p.R62H 0.984 122 0% 129 22.5% 71 42.2% benign(0.001) tolerated(0.18) neutral(0.056) HMMPfam_GFRP,superfamily_GTP cyclohydrolase I feedback regulatory protein GFRP STRC 161497 genome.wustl.edu 37 15 43999752 43999752 + Silent SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b ENST00000381686 -1 known p.L1228 1.000 280 0% 273 33.7% 0 - - - - NULL EIF3J 8669 genome.wustl.edu 37 15 44843113 44843113 + Missense_Mutation SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_003758.2 +1 validated p.A63T 1.000 147 0% 137 46% 7 57.1% unknown(0) tolerated(0.48) - HMMPfam_eIF3_subunit MAPK6 5597 genome.wustl.edu 37 15 52353495 52353495 + Splice_Site SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_002748.3 +1 reviewed e4-1 1.000 133 0% 129 41.9% 0 - - - - - UNC13C 440279 genome.wustl.edu 37 15 54592505 54592505 + Missense_Mutation SNP C C A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_001080534.1 +1 provisional p.A1401D 0.990 356 0% 270 27.4% 0 - possibly_damaging(0.721) tolerated(0.06) deleterious(0.584) NULL KIF23 9493 genome.wustl.edu 37 15 69718690 69718690 + Missense_Mutation SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_138555.1 +1 reviewed p.R288H 1.000 188 0% 186 36.6% 0 - probably_damaging(0.963) deleterious(0) deleterious(0.850) HMMPfam_Kinesin,HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases HCN4 10021 genome.wustl.edu 37 15 73635767 73635767 + Missense_Mutation SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_005477.2 -1 reviewed p.R390C 1.000 125 0% 129 27.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ion_trans,superfamily_SSF81324 TBC1D2B 23102 genome.wustl.edu 37 15 78305213 78305213 + Missense_Mutation SNP G G T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_144572.1 -1 validated p.A741D 1.000 181 0% 267 30.7% 19 15.7% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TBC,HMMSmart_SM00164,superfamily_Ypt/Rab-GAP domain of gyp1p LINS 55180 genome.wustl.edu 37 15 101120777 101120777 + Missense_Mutation SNP G G T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_001040614.1 -1 reviewed p.L91I 0.997 230 0% 225 29.8% 3 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL PCSK6 5046 genome.wustl.edu 37 15 101847443 101847443 + Silent SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_002570.3 -1 reviewed p.H929Y 1.000 173 0% 172 30.8% 13 30.7% - - - NULL CCDC154 645811 genome.wustl.edu 37 16 1487856 1487856 + Missense_Mutation SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_001143980.1 -1 provisional p.D418N 0.147 11 0% 17 41.2% 0 - probably_damaging(0.998) tolerated(0.11) deleterious(0.746) NULL ZNF598 90850 genome.wustl.edu 37 16 2052654 2052654 + Missense_Mutation SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b ENST00000431526 -1 known p.S182L 0.971 75 0% 105 29.5% 72 45.8% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL SLX4 84464 genome.wustl.edu 37 16 3644469 3644469 + Silent SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_032444.2 -1 provisional p.P715 0.000 135 0% 177 28.2% 3 66.6% - - - HMMSmart_SM00225,superfamily_POZ domain,HMMPfam_BTB CARHSP1 23589 genome.wustl.edu 37 16 8952207 8952207 + Missense_Mutation SNP T T G novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_001042476.1 -1 validated p.D94A 1.000 56 0% 79 45.6% 484 47.5% probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_CSD,HMMSmart_SM00357,superfamily_Nucleic acid-binding proteins,PatternScan_COLD_SHOCK GRIN2A 2903 genome.wustl.edu 37 16 9858493 9858493 + Missense_Mutation SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_000833.3 -1 reviewed p.R970W 1.000 238 0% 219 36.1% 0 - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMPfam_NMDAR2_C TEKT5 146279 genome.wustl.edu 37 16 10788617 10788617 + Silent SNP G G T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_144674.1 -1 provisional p.P38 1.000 82 0% 87 36.8% 0 - - - - NULL KIAA0430 9665 genome.wustl.edu 37 16 15728789 15728789 + Splice_Site SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_014647.3 -1 validated e3-1 1.000 516 0% 465 34.4% 0 - - - - - ATP2A1 487 genome.wustl.edu 37 16 28905901 28905901 + Silent SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_173201.2 +1 reviewed p.C420 1.000 70 0% 122 30.3% 0 - - - - superfamily_Metal cation-transporting ATPase ATP-binding domain N,superfamily_Calcium ATPase transmembrane domain M MAZ 4150 genome.wustl.edu 37 16 29819933 29819933 + Missense_Mutation SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_001042539.1 +1 validated p.H384Y 1.000 64 0% 74 35.1% 721 43.1% possibly_damaging(0.937) deleterious(0) deleterious(0.828) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ARMC5 79798 genome.wustl.edu 37 16 31473680 31473680 + Missense_Mutation SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_001105247.1 +1 validated p.R271Q 1.000 31 0% 48 35.4% 12 16.6% probably_damaging(0.997) tolerated(0.6) deleterious(0.471) superfamily_ARM repeat RPGRIP1L 23322 genome.wustl.edu 37 16 53726257 53726257 + Missense_Mutation SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_015272.2 -1 reviewed p.R84W 1.000 238 0% 179 32.4% 4 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL FAM192A 80011 genome.wustl.edu 37 16 57201040 57201040 + Missense_Mutation SNP C C A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_024946.2 -1 validated p.Q149H 1.000 207 0% 205 32.2% 11 9% probably_damaging(1) deleterious(0) deleterious(0.945) NULL CTCF 10664 genome.wustl.edu 37 16 67662298 67662298 + Missense_Mutation SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_006565.2 +1 reviewed p.R515H 1.000 159 0% 170 37.6% 66 45.4% probably_damaging(0.999) deleterious(0.04) deleterious(0.839) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers C16orf48 84080 genome.wustl.edu 37 16 67700043 67700043 + Missense_Mutation SNP G G C novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_032140.1 -1 predicted p.Q71E 0.380 12 0% 20 25% 47 61.7% benign(0.277) tolerated(0.06) neutral(0.352) NULL HAS3 3038 genome.wustl.edu 37 16 69143879 69143879 + Missense_Mutation SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_005329.2 +1 reviewed p.R194H 1.000 54 0% 81 33.3% 5 40% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF53448 HYDIN 54768 genome.wustl.edu 37 16 70889141 70889141 + Silent SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_032821.2 -1 validated p.K4110 0.999 185 0% 188 34% 0 - - - - NULL ZFHX3 463 genome.wustl.edu 37 16 72829701 72829701 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_006885.3 -1 reviewed p.R2294* 1.000 213 0% 187 38% 6 33.3% - - - HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like CMIP 80790 genome.wustl.edu 37 16 81737565 81737565 + Silent SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_198390.2 +1 validated p.L656 1.000 90 0% 99 37.4% 53 49% - - - superfamily_RNI-like DNAAF1 123872 genome.wustl.edu 37 16 84193342 84193342 + Silent SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_178452.4 +1 reviewed p.V268 0.998 225 0% 211 39.8% 51 47% - - - superfamily_Outer arm dynein light chain 1 SLC43A2 124935 genome.wustl.edu 37 17 1519900 1519900 + Silent SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_152346.1 -1 provisional p.I108 1.000 78 0% 138 35.5% 58 43.1% - - - HMMPfam_MFS_1,superfamily_MFS general substrate transporter RTN4RL1 146760 genome.wustl.edu 37 17 1841096 1841096 + Missense_Mutation SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_178568.2 -1 validated p.C7Y 0.999 22 0% 29 48.3% 2 100% unknown(0) tolerated(0.23) - NULL PSMB6 5694 genome.wustl.edu 37 17 4701093 4701095 + In_Frame_Del DEL AAG AAG - novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 AAG AAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_002798.1 +1 reviewed p.E141in_frame_del 1.000:0.993:1.000 - - - - - - - - - HMMPfam_Proteasome,superfamily_N-terminal nucleophile aminohydrolases (Ntn hydrolases) NLRP1 22861 genome.wustl.edu 37 17 5424849 5424849 + Missense_Mutation SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_033004.3 -1 reviewed p.R1260W 0.060 83 0% 131 42% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL KDM6B 23135 genome.wustl.edu 37 17 7750989 7750989 + Silent SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_001080424.1 +1 provisional p.L461 0.996 11 0% 20 35% 3 33.3% - - - NULL MYH1 4619 genome.wustl.edu 37 17 10404064 10404064 + Missense_Mutation SNP G G C novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_005963.3 -1 reviewed p.N1248K 1.000 363 0% 319 33.5% 0 - possibly_damaging(0.498) deleterious(0.05) deleterious(0.512) HMMPfam_Myosin_tail_1 MAP2K4 6416 genome.wustl.edu 37 17 11998907 11998907 + Missense_Mutation SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_003010.2 +1 reviewed p.V137M 1.000 300 0% 256 34% 0 - probably_damaging(0.996) tolerated(0.13) deleterious(0.714) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase LOC732391 732391 genome.wustl.edu 37 17 15469118 15469118 + Missense_Mutation SNP A A G novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b XM_001722159.1 -1 model p.L154P 0.000 174 0% 209 20.6% 1 0% benign(0.273) tolerated(0.14) neutral(0.279) NULL TNFAIP1 7126 genome.wustl.edu 37 17 26668262 26668262 + Splice_Site SNP G G T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_021137.4 +1 reviewed e3-1 1.000 94 0% 91 36.3% 1 100% - - - - MRPL45 84311 genome.wustl.edu 37 17 36454529 36454529 + Missense_Mutation SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_032351.3 +1 reviewed p.R61W 0.996 141 0% 134 25.4% 9 22.2% probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL C17orf98 388381 genome.wustl.edu 37 17 36991465 36991465 + Missense_Mutation SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_001080465.2 -1 validated p.V148I 1.000 192 0% 219 40.2% 0 - benign(0.008) tolerated(0.86) neutral(0.001) NULL CACNB1 782 genome.wustl.edu 37 17 37343158 37343158 + Missense_Mutation SNP C C G novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_000723.3 -1 reviewed p.G147R 1.000 65 0% 75 46.7% 4 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SH3_1,superfamily_SH3-domain WIPF2 147179 genome.wustl.edu 37 17 38420978 38420978 + Missense_Mutation SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_133264.4 +1 validated p.R184W 0.986 53 0% 76 38.2% 11 27.2% probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL ACLY 47 genome.wustl.edu 37 17 40024082 40024082 + Missense_Mutation SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_001096.2 -1 reviewed p.P1096L 1.000 208 0% 218 32.6% 133 43.6% probably_damaging(0.994) deleterious(0) deleterious(0.897) superfamily_Citrate_synthase_core DHX58 79132 genome.wustl.edu 37 17 40256845 40256845 + Missense_Mutation SNP G G A rs188650103 by1000genomes TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_024119.2 -1 validated p.T501M 0.000 89 0% 100 27% 10 70% possibly_damaging(0.668) tolerated(0.06) deleterious(0.559) superfamily_SSF52540 EZH1 2145 genome.wustl.edu 37 17 40874874 40874874 + Missense_Mutation SNP T T A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_001991.3 -1 validated p.E142D 1.000 370 0% 442 36.2% 3 33.3% benign(0.404) tolerated(0.13) neutral(0.383) HMMSmart_SM00717 OSBPL7 114881 genome.wustl.edu 37 17 45897609 45897609 + Silent SNP A A G novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_145798.2 -1 reviewed p.P12 0.003 132 0% 145 29.7% 8 37.5% - - - NULL SPOP 8405 genome.wustl.edu 37 17 47696740 47696740 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_001007226.1 -1 reviewed p.R70* 1.000 121 0% 114 31.6% 5 20% - - - HMMPfam_MATH,HMMSmart_SM00061,superfamily_TRAF domain-like SPOP 8405 genome.wustl.edu 37 17 47699360 47699360 + Missense_Mutation SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_001007226.1 -1 reviewed p.E50K 1.000 125 0% 127 26.8% 6 50% benign(0.22) deleterious(0.05) neutral(0.367) HMMPfam_MATH,HMMSmart_SM00061,superfamily_TRAF domain-like SPAG9 9043 genome.wustl.edu 37 17 49067944 49067944 + Silent SNP T T C novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b ENST00000514613 -1 known p.Q686R 0.912 199 0% 223 39.9% 18 27.7% - - - NULL UTP18 51096 genome.wustl.edu 37 17 49338072 49338072 + Missense_Mutation SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_016001.2 +1 validated p.A43T 0.965 7 0.000 18 0.278 3 66.6% benign(0.223) deleterious(0) neutral(0.467) NULL COIL 8161 genome.wustl.edu 37 17 55038329 55038329 + Missense_Mutation SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_004645.2 -1 reviewed p.P18S 1.000 142 0% 139 15.1% 0 - probably_damaging(0.999) tolerated(0.23) deleterious(0.532) NULL SRSF1 6426 genome.wustl.edu 37 17 56083273 56083273 + Silent SNP T T C novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_006924.4 -1 reviewed p.V147 1.000 150 0% 174 40.8% 203 52.7% - - - HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD VMP1 81671 genome.wustl.edu 37 17 57851164 57851164 + Missense_Mutation SNP C C A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_030938.3 +1 validated p.A211E 1.000 182 0% 200 46% 14 21.4% probably_damaging(0.994) deleterious(0) deleterious(0.897) NULL DCAF7 10238 genome.wustl.edu 37 17 61662609 61662609 + Missense_Mutation SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b ENST00000310827 +1 known p.V259I 1.000 182 0% 182 37.4% 134 44.7% possibly_damaging(0.919) tolerated(0.11) deleterious(0.641) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 ABCA8 10351 genome.wustl.edu 37 17 66878067 66878067 + Missense_Mutation SNP C C A rs148843765 TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_007168.2 -1 reviewed p.G1255C 0.000 283 0% 241 33.2% 0 - benign(0.001) tolerated(0.18) neutral(0.056) superfamily_P-loop containing nucleoside triphosphate hydrolases CDC42EP4 23580 genome.wustl.edu 37 17 71282413 71282413 + Missense_Mutation SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_012121.4 -1 reviewed p.R76H 1.000 36 0% 55 36.4% 35 48.5% possibly_damaging(0.87) tolerated(0.13) deleterious(0.591) HMMPfam_PBD UNK 85451 genome.wustl.edu 37 17 73820373 73820373 + Missense_Mutation SNP C C A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_001080419.1 +1 provisional p.L846I 1.000 37 0% 47 23.4% 43 46.5% benign(0.056) tolerated(0.39) neutral(0.019) NULL LGALS3BP 3959 genome.wustl.edu 37 17 76967746 76967746 + Missense_Mutation SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_005567.3 -1 reviewed p.S557F 0.006 37 0% 47 48.9% 2416 47.9% probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL ENPP7 339221 genome.wustl.edu 37 17 77709121 77709121 + Missense_Mutation SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_178543.3 +1 validated p.R227W 0.565 52 0% 64 15.6% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_Phosphodiest,superfamily_Alkaline_phosphatase_core CBX4 8535 genome.wustl.edu 37 17 77808525 77808525 + Missense_Mutation SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_003655.2 -1 validated p.A306T 0.008 71 0% 92 35.9% 8 37.5% benign(0.002) tolerated(0.15) neutral(0.241) NULL C17orf70 80233 genome.wustl.edu 37 17 79514274 79514274 + Missense_Mutation SNP C C A rs35394179 TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_025161.5 -1 validated p.G461W 0.001 13 0% 21 23.8% 97 48.4% probably_damaging(0.956) deleterious(0.01) deleterious(0.805) NULL GPS1 2873 genome.wustl.edu 37 17 80012553 80012553 + Missense_Mutation SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_212492.1 +1 reviewed p.R199H 0.982 46 0% 81 32.1% 181 52.4% probably_damaging(0.999) deleterious(0.03) deleterious(0.855) HMMPfam_RPN7 SLC16A3 9123 genome.wustl.edu 37 17 80194609 80194609 + Silent SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_001042422.1 +1 validated p.P76 0.004 74 0% 101 28.7% 186 33.3% - - - HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter UTS2R 2837 genome.wustl.edu 37 17 80332320 80332320 + Silent SNP C C A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_018949.1 +1 provisional p.T40 0.000 24 0% 35 37.1% 0 - - - - superfamily_Family A G protein-coupled receptor-like CELF4 56853 genome.wustl.edu 37 18 34844715 34844715 + Missense_Mutation SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_020180.3 -1 reviewed p.A391T 1.000 122 0% 169 39.6% 0 - benign(0.009) tolerated(0.07) neutral(0.320) superfamily_RNA-binding domain RBD TSHZ1 10194 genome.wustl.edu 37 18 72998008 72998008 + Silent SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_005786.4 +1 reviewed p.L171 1.000 35 0% 47 27.7% 33 30.3% - - - NULL ZNF236 7776 genome.wustl.edu 37 18 74616441 74616441 + Missense_Mutation SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_007345.3 +1 validated p.A665V 0.560 254 0.4% 227 33% 0 - probably_damaging(0.996) tolerated(0.09) deleterious(0.758) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers HCN2 610 genome.wustl.edu 37 19 603890 603890 + Missense_Mutation SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_001194.3 +1 validated p.R327C 1.000 29 0% 57 45.6% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ion_trans,superfamily_SSF81324 ABCA7 10347 genome.wustl.edu 37 19 1051209 1051209 + Missense_Mutation SNP G G C novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_019112.3 +1 reviewed p.A914P 0.050 121 0% 158 34.2% 8 12.5% benign(0.059) tolerated(0.26) neutral(0.038) HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases ABCA7 10347 genome.wustl.edu 37 19 1051997 1051997 + Missense_Mutation SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_019112.3 +1 reviewed p.R1007C 1.000 52 0% 68 33.8% 9 66.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases C19orf71 100128569 genome.wustl.edu 37 19 3543846 3543846 + Silent SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_001135580.1 +1 validated p.Y156 0.000 43 0% 53 34% 7 42.8% - - - NULL ZBTB7A 51341 genome.wustl.edu 37 19 4054697 4054697 + Silent SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_015898.2 -1 validated p.A178 0.924 28 0% 40 45% 4 75% - - - NULL SAFB2 9667 genome.wustl.edu 37 19 5616281 5616281 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b ENST00000415313 -1 known p.R114* 0.856 202 0% 224 31.2% 39 38.4% - - - NULL SMARCA4 6597 genome.wustl.edu 37 19 11145728 11145728 + Missense_Mutation SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_001128849.1 +1 reviewed p.E1364K 1.000 47 0% 67 34.3% 345 44.9% possibly_damaging(0.808) tolerated(0.2) neutral(0.353) NULL RAB3D 9545 genome.wustl.edu 37 19 11446353 11446353 + Missense_Mutation SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_004283.3 -1 validated p.A112V 0.999 150 0% 195 22.6% 48 31.2% probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMSmart_RAB,HMMPfam_Ras,superfamily_SSF52540 ZNF791 163049 genome.wustl.edu 37 19 12738563 12738563 + Missense_Mutation SNP G G T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_153358.2 +1 validated p.G74C 0.009 46 2.2% 38 39.5% 3 66.6% benign(0.114) tolerated(0.18) neutral(0.065) NULL PRDX2 7001 genome.wustl.edu 37 19 12911596 12911596 + Missense_Mutation SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_181738.1 -1 reviewed p.P131S 0.032 119 0% 168 27.4% 1 0% unknown(0) deleterious(0) - NULL GCDH 2639 genome.wustl.edu 37 19 13008557 13008557 + Missense_Mutation SNP T T C novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_000159.2 +1 reviewed p.C375R 1.000 76 0% 107 29% 36 27.7% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Acyl-CoA_dh_1,superfamily_Acyl-CoA dehydrogenase C-terminal domain-like CD97 976 genome.wustl.edu 37 19 14507908 14507908 + Silent SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_078481.2 +1 reviewed p.S166 0.000 140 0% 187 35.3% 0 - - - - HMMSmart_SM00179,HMMSmart_SM00181,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_EGF/Laminin OCEL1 79629 genome.wustl.edu 37 19 17337911 17337911 + Missense_Mutation SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_024578.1 +1 provisional p.E119K 1.000 61 0% 85 38.8% 36 52.7% probably_damaging(0.995) deleterious(0) deleterious(0.902) NULL JAK3 3718 genome.wustl.edu 37 19 17945447 17945447 + Silent SNP G G T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_000215.3 -1 reviewed p.A761 0.988 37 0% 59 32.2% 5 0% - - - HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) UPF1 5976 genome.wustl.edu 37 19 18965730 18965730 + Silent SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_002911.3 +1 reviewed p.S436 0.000 86 0% 120 39.2% 113 46% - - - NULL DDX49 54555 genome.wustl.edu 37 19 19032693 19032693 + Missense_Mutation SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_019070.4 +1 validated p.V123M 1.000 55 0% 73 39.7% 41 46.3% probably_damaging(0.971) deleterious(0) deleterious(0.857) HMMPfam_DEAD,HMMSmart_DEXDc,superfamily_SSF52540 GMIP 51291 genome.wustl.edu 37 19 19740909 19740909 + Missense_Mutation SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_016573.2 -1 reviewed p.R926C 1.000 19 0% 35 20% 23 30.4% benign(0.007) deleterious(0.01) neutral(0.406) NULL ZNF430 80264 genome.wustl.edu 37 19 21239479 21239479 + Missense_Mutation SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_025189.3 +1 validated p.G122D 0.002 112 0% 89 41.6% 0 - benign(0.001) tolerated(0.72) neutral(0.002) NULL LOC400682 400682 genome.wustl.edu 37 19 21838381 21838381 + Missense_Mutation SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b XM_001726878.1 +1 model p.H36Y 0.866 25 0% 31 22.6% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers UQCRFS1 7386 genome.wustl.edu 37 19 29698487 29698487 + Missense_Mutation SNP A A G novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_006003.2 -1 validated p.F265L 1.000 175 0% 181 33.7% 195 53.3% probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_Rieske,superfamily_Rieske_dom ZNF536 9745 genome.wustl.edu 37 19 30934859 30934859 + Frame_Shift_Del DEL C C - novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_014717.1 +1 provisional p.P131fs 1.000 - - - - - - - - - HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ARHGAP33 115703 genome.wustl.edu 37 19 36279175 36279175 + Silent SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_052948.3 +1 reviewed p.R1075 0.972 8 0.000 18 0.389 5 0% - - - NULL CLIP3 25999 genome.wustl.edu 37 19 36515405 36515405 + Missense_Mutation SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_015526.1 -1 provisional p.A271T 0.979 98 0% 119 29.4% 11 27.2% benign(0) tolerated(0.66) neutral(0.003) NULL LOC400696 400696 genome.wustl.edu 37 19 40172107 40172107 + Missense_Mutation SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_207646.2 +1 validated p.G17D 0.014 240 0% 286 27.3% 3 0% - - - HMMPfam_Gal-bind_lectin,HMMSmart_SM00276,superfamily_Concanavalin A-like lectins/glucanases C19orf47 126526 genome.wustl.edu 37 19 40827943 40827943 + Missense_Mutation SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_178830.2 -1 predicted p.S305N 1.000 52 0% 66 25.8% 9 44.4% probably_damaging(0.996) deleterious(0.01) deleterious(0.867) NULL CYP2A13 1553 genome.wustl.edu 37 19 41595953 41595953 + Silent SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_000766.3 +1 reviewed p.G115 0.014 15 0% 15 53.3% 0 - - - - HMMPfam_p450,superfamily_Cytochrome_P450 PSG7 5676 genome.wustl.edu 37 19 43430712 43430712 + Missense_Mutation SNP C C T rs191942944 by1000genomes TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_002783.2 -1 reviewed p.R289H 0.000 311 0.6% 340 36.2% 0 - benign(0.006) tolerated(0.29) neutral(0.029) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin APOC4 346 genome.wustl.edu 37 19 45445568 45445568 + Missense_Mutation SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_001646.1 +1 reviewed p.P12S 0.000 74 0% 144 36.8% 0 - possibly_damaging(0.771) tolerated(0.34) neutral(0.309) NULL PPP1R13L 10848 genome.wustl.edu 37 19 45889095 45889095 + Missense_Mutation SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_001142502.1 -1 validated p.D690N 1.000 46 0% 58 32.8% 172 39.5% unknown(0) deleterious(0) - HMMPfam_Ank,superfamily_Ankyrin repeat DMPK 1760 genome.wustl.edu 37 19 46281423 46281423 + Missense_Mutation SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_001081563.1 -1 reviewed p.D223N 0.999 65 0% 124 25% 46 52.1% probably_damaging(0.985) deleterious(0) deleterious(0.877) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase EHD2 30846 genome.wustl.edu 37 19 48244201 48244201 + Silent SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_014601.3 +1 reviewed p.L382 0.888 42 0% 55 36.4% 14 0% - - - NULL FAM83E 54854 genome.wustl.edu 37 19 49114037 49114037 + Missense_Mutation SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_017708.3 -1 validated p.T178M 0.969 30 0% 66 31.8% 38 60.5% benign(0.036) tolerated(0.08) neutral(0.302) HMMPfam_DUF1669,superfamily_Phospholipase D/nuclease TRPM4 54795 genome.wustl.edu 37 19 49686388 49686388 + Silent SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_017636.2 +1 provisional p.L554 0.000 42 0% 74 45.9% 30 50% - - - NULL CPT1C 126129 genome.wustl.edu 37 19 50216289 50216289 + Missense_Mutation SNP C C A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_152359.1 +1 provisional p.H732N 1.000 52 0% 93 14% 5 20% probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_Carn_acyltransf,superfamily_CoA-dependent acyltransferases MYH14 79784 genome.wustl.edu 37 19 50785025 50785025 + Missense_Mutation SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_001077186.1 +1 reviewed p.D1456N 1.000 10 0% 12 50% 45 40% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Myosin_tail_1 POLD1 5424 genome.wustl.edu 37 19 50912082 50912082 + Missense_Mutation SNP C C G novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_002691.2 +1 validated p.L606V 0.984 102 0% 138 37% 70 40% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DNA_pol_B,HMMSmart_POLBc,superfamily_SSF56672 ZNF331 55422 genome.wustl.edu 37 19 54080864 54080864 + Silent SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_001079906.1 +1 validated p.T350 0.134 149 0% 221 35.7% 13 38.4% - - - superfamily_SSF57667 LAIR1 3903 genome.wustl.edu 37 19 54867604 54867604 + Missense_Mutation SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_002287.3 -1 reviewed p.V226I 0.000 184 0% 194 26.8% 11 0% benign(0) tolerated(0.92) - NULL FIZ1 84922 genome.wustl.edu 37 19 56104854 56104854 + Silent SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_032836.2 -1 reviewed p.C151 0.631 15 0% 21 28.6% 5 80% - - - NULL ZNF582 147948 genome.wustl.edu 37 19 56896148 56896148 + Missense_Mutation SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_144690.1 -1 provisional p.R213Q 0.000 90 0% 77 37.7% 0 - probably_damaging(0.994) tolerated(0.71) neutral(0.454) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 SNPH 9751 genome.wustl.edu 37 20 1281227 1281227 + Silent SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_014723.2 +1 reviewed p.L60 0.765 46 0% 76 42.1% 0 - - - - NULL TGM6 343641 genome.wustl.edu 37 20 2375961 2375961 + Silent SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_198994.2 +1 validated p.L101 0.001 161 0% 205 37.6% 0 - - - - HMMPfam_Transglut_N,superfamily_E set domains SMOX 54498 genome.wustl.edu 37 20 4163027 4163027 + Missense_Mutation SNP C C T rs145014650 by1000genomes TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_175839.1 +1 reviewed p.R301W 0.105 40 0% 75 34.7% 7 28.5% possibly_damaging(0.496) deleterious(0.01) deleterious(0.571) HMMPfam_Amino_oxidase,superfamily_FAD/NAD(P)-binding domain ADRA1D 146 genome.wustl.edu 37 20 4228724 4228724 + Missense_Mutation SNP C C T rs61759849 TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_000678.3 -1 reviewed p.R294H 1.000 13 0% 13 46.2% 0 - probably_damaging(0.985) deleterious(0) deleterious(0.877) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like ESF1 51575 genome.wustl.edu 37 20 13750554 13750554 + Missense_Mutation SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_016649.3 -1 provisional p.T506M 1.000 182 0% 121 28.9% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL RRBP1 6238 genome.wustl.edu 37 20 17597404 17597404 + Silent SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_001042576.1 -1 reviewed p.A847 0.000 111 0% 96 37.5% 198 46.4% - - - NULL NINL 22981 genome.wustl.edu 37 20 25457292 25457292 + Missense_Mutation SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_025176.4 -1 validated p.R879C 0.000 7 0.000 11 0.364 5 40% benign(0) deleterious(0.01) neutral(0.406) NULL EFCAB8 388795 genome.wustl.edu 37 20 31480052 31480052 + Missense_Mutation SNP G G A rs62208904 byCluster;byFrequency;by1000genomes TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b ENST00000440534 +1 known p.R236Q 0.073 225 0% 207 35.3% 0 - possibly_damaging(0.655) tolerated(0.41) neutral(0.245) superfamily_WD40 repeat-like,superfamily_EF-hand BPIFB2 80341 genome.wustl.edu 37 20 31596456 31596456 + Missense_Mutation SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_025227.1 +1 reviewed p.V26M 0.925 51 0% 96 36.5% 0 - probably_damaging(0.981) tolerated(0.08) deleterious(0.726) superfamily_Bactericidal permeability-increasing protein BPI BPIFB1 92747 genome.wustl.edu 37 20 31877773 31877773 + Silent SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_033197.2 +1 reviewed p.L114 0.993 110 0% 129 40.3% 0 - - - - HMMPfam_LBP_BPI_CETP,HMMSmart_SM00328,superfamily_Bactericidal permeability-increasing protein BPI NCOA6 23054 genome.wustl.edu 37 20 33320380 33320380 + Silent SNP G G T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_014071.2 -1 reviewed p.A1994 0.992 185 0% 177 35.6% 17 70.5% - - - NULL SLC32A1 140679 genome.wustl.edu 37 20 37356120 37356120 + Missense_Mutation SNP A A G novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_080552.2 +1 reviewed p.Y139C 1.000 16 0% 31 29% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Aa_trans PTPRT 11122 genome.wustl.edu 37 20 41419980 41419980 + Missense_Mutation SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_133170.3 -1 reviewed p.R114K 1.000 131 0% 148 43.9% 0 - benign(0.004) deleterious(0.03) neutral(0.364) HMMPfam_MAM,HMMSmart_SM00137 KCNK15 60598 genome.wustl.edu 37 20 43378827 43378827 + Missense_Mutation SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_022358.2 +1 reviewed p.A114V 1.000 30 0% 58 37.9% 3 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ion_trans_2,superfamily_SSF81324 MC3R 4159 genome.wustl.edu 37 20 54824734 54824734 + Missense_Mutation SNP G G T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_019888.3 +1 reviewed p.A279S 0.990 359 0% 418 23.4% 0 - benign(0) tolerated(1) - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like RAE1 8480 genome.wustl.edu 37 20 55941931 55941931 + Silent SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_001015885.1 +1 reviewed p.S148 1.000 356 0% 367 38.7% 20 15% - - - HMMSmart_SM00320,superfamily_WD40 repeat-like,PatternScan_WD_REPEATS_1,HMMPfam_WD40 LAMA5 3911 genome.wustl.edu 37 20 60907709 60907709 + Missense_Mutation SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_005560.3 -1 reviewed p.A1116V 1.000 20 0% 36 38.9% 10 50% benign(0) tolerated(1) - NULL PRIC285 85441 genome.wustl.edu 37 20 62200561 62200561 + Missense_Mutation SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_001037335.2 -1 reviewed p.R343Q 0.905 26 0% 50 22% 2 0% probably_damaging(0.997) tolerated(0.12) deleterious(0.727) NULL SYNJ1 8867 genome.wustl.edu 37 21 34004016 34004016 + Missense_Mutation SNP C C A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_003895.3 -1 validated p.K1337N 1.000 272 0% 249 30.1% 1 0% unknown(0) deleterious(0.01) - NULL SYNJ1 8867 genome.wustl.edu 37 21 34012043 34012043 + Missense_Mutation SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_003895.3 -1 validated p.A1212V 0.980 328 0% 287 31.7% 2 50% probably_damaging(0.996) tolerated(0.13) deleterious(0.714) NULL GCFC1 94104 genome.wustl.edu 37 21 34127586 34127588 + In_Frame_Del DEL GTC GTC - novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 GTC GTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_016631.3 -1 reviewed p.R487in_frame_del 1.000:1.000:1.000 - - - - - - - - - HMMPfam_GCFC ZNF295 49854 genome.wustl.edu 37 21 43413036 43413036 + Missense_Mutation SNP C C A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_001098402.1 -1 validated p.S390I 0.000 191 0% 185 38.9% 4 50% benign(0.006) deleterious(0.02) neutral(0.383) NULL CBS 875 genome.wustl.edu 37 21 44492252 44492252 + Missense_Mutation SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_000071.2 -1 reviewed p.R18C 0.007 41 0% 58 50% 1 0% benign(0.339) tolerated(0.14) neutral(0.356) NULL PFKL 5211 genome.wustl.edu 37 21 45746706 45746706 + Frame_Shift_Del DEL C C - novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_002626.4 +1 reviewed p.H768fs 0.964 - - - - - - - - - superfamily_Phosphofructokinase KRTAP10-4 386672 genome.wustl.edu 37 21 45994618 45994618 + Missense_Mutation SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_198687.1 +1 reviewed p.C328Y 0.398 100 0% 154 40.3% 0 - unknown(0) tolerated(0.07) - HMMPfam_Keratin_B2 KRTAP12-2 353323 genome.wustl.edu 37 21 46086427 46086427 + Missense_Mutation SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_181684.2 -1 validated p.C126Y 0.997 108 0.9% 130 37.7% 0 - possibly_damaging(0.952) tolerated(0.43) neutral(0.409) HMMPfam_Keratin_B2 IL17RA 23765 genome.wustl.edu 37 22 17589915 17589915 + Silent SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_014339.4 +1 reviewed p.D602 0.110 13 0% 14 28.6% 6 16.6% - - - NULL CECR2 27443 genome.wustl.edu 37 22 18028074 18028074 + Missense_Mutation SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b ENST00000400573 +1 known p.G1011S 0.045 63 0% 77 33.8% 0 - benign(0) tolerated(1) - NULL PRAME 23532 genome.wustl.edu 37 22 22893400 22893400 + Missense_Mutation SNP G G T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_006115.3 -1 reviewed p.L45M 0.791 34 0% 56 35.7% 123 49.5% probably_damaging(1) tolerated(0.13) deleterious(0.752) superfamily_RNI-like RGL4 266747 genome.wustl.edu 37 22 24036132 24036132 + Missense_Mutation SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_153615.1 +1 provisional p.V295M 0.047 39 0% 55 30.9% 2 50% possibly_damaging(0.816) deleterious(0.02) deleterious(0.692) HMMPfam_RasGEF,HMMSmart_SM00147,superfamily_Ras GEF UPB1 51733 genome.wustl.edu 37 22 24919641 24919641 + Missense_Mutation SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_016327.2 +1 reviewed p.S324N 0.999 118 0% 115 34.8% 0 - benign(0.001) deleterious(0.02) neutral(0.383) superfamily_Carbon-nitrogen hydrolase TTC28 23331 genome.wustl.edu 37 22 28378723 28378723 + Missense_Mutation SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_001145418.1 -1 validated p.G2311D 1.000 187 0% 155 40% 6 66.6% probably_damaging(1) deleterious(0) deleterious(0.945) NULL TTC28 23331 genome.wustl.edu 37 22 28492237 28492237 + Missense_Mutation SNP A A G novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_001145418.1 -1 validated p.V1236A 1.000 257 0% 250 33.6% 4 0% probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL GAL3ST1 9514 genome.wustl.edu 37 22 30951763 30951763 + Missense_Mutation SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_004861.1 -1 reviewed p.R150H 0.981 61 0% 87 39.1% 37 32.4% benign(0.047) tolerated(0.2) neutral(0.052) HMMPfam_Gal-3-0_sulfotr LIMK2 3985 genome.wustl.edu 37 22 31658767 31658767 + Missense_Mutation SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_001031801.1 +1 reviewed p.R261C 1.000 82 0% 99 39.4% 25 56% possibly_damaging(0.896) deleterious(0.03) deleterious(0.718) NULL PRR14L 253143 genome.wustl.edu 37 22 32084183 32084183 + Missense_Mutation SNP C C A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_173566.2 -1 validated p.E2046D 1.000 159 0% 129 31% 1 0% possibly_damaging(0.857) tolerated(0.07) deleterious(0.650) NULL H1F0 3005 genome.wustl.edu 37 22 38201689 38201691 + In_Frame_Del DEL GCG GCG - novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 GCG GCG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_005318.3 +1 reviewed p.R47in_frame_del 0.999:1.000:1.000 - - - - - - - - - "HMMPfam_Linker_histone,HMMSmart_SM00526,superfamily_""Winged helix"" DNA-binding domain" PLA2G6 8398 genome.wustl.edu 37 22 38528999 38528999 + Missense_Mutation SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_003560.2 -1 reviewed p.R306W 0.029 29 0% 57 35.1% 48 41.6% possibly_damaging(0.529) tolerated(0.05) deleterious(0.524) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat SERHL2 253190 genome.wustl.edu 37 22 42967190 42967190 + Missense_Mutation SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_014509.3 +1 provisional p.A238T 0.995 279 0.4% 309 29.8% 4 0% probably_damaging(0.96) deleterious(0.01) deleterious(0.808) superfamily_alpha/beta-Hydrolases CELSR1 9620 genome.wustl.edu 37 22 46931221 46931221 + Missense_Mutation SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_014246.1 -1 reviewed p.S616N 0.001 29 0% 43 39.5% 9 44.4% benign(0.139) tolerated(0.06) neutral(0.335) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like CLCN4 1183 genome.wustl.edu 37 X 10180635 10180635 + Silent SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_001830.3 +1 reviewed p.P506 0.171 81 0% 107 37.4% 0 - - - - HMMPfam_Voltage_CLC,superfamily_Clc chloride channel ARHGAP6 395 genome.wustl.edu 37 X 11160423 11160423 + Missense_Mutation SNP C C A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_013427.2 -1 reviewed p.E729D 1.000 254 0% 243 39.5% 0 - possibly_damaging(0.775) deleterious(0) deleterious(0.733) NULL CTPS2 56474 genome.wustl.edu 37 X 16717111 16717111 + Missense_Mutation SNP C C A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_001144002.1 -1 reviewed p.G91V 1.000 201 0% 188 40.4% 7 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_CTP_synth_N,superfamily_P-loop containing nucleoside triphosphate hydrolases KLHL34 257240 genome.wustl.edu 37 X 21675237 21675237 + Missense_Mutation SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_153270.1 -1 provisional p.R224C 1.000 10 0% 19 47.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_BACK TAB3 257397 genome.wustl.edu 37 X 30873652 30873652 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_152787.3 -1 reviewed p.R44* 1.000 35 0% 39 30.8% 2 0% - - - HMMPfam_CUE,HMMSmart_SM00546 USP9X 8239 genome.wustl.edu 37 X 41026800 41026800 + Silent SNP G G T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_001039590.2 +1 reviewed p.T798 0.962 284 0% 227 35.7% 3 0% - - - NULL TBC1D25 4943 genome.wustl.edu 37 X 48418481 48418481 + Silent SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_002536.2 +1 validated p.L395 0.931 29 0% 50 44% 34 0% - - - HMMPfam_TBC,HMMSmart_SM00164,superfamily_Ypt/Rab-GAP domain of gyp1p GATA1 2623 genome.wustl.edu 37 X 48650810 48650810 + Missense_Mutation SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_002049.3 +1 reviewed p.A227T 1.000 130 0% 137 33.6% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_GATA,HMMSmart_SM00401,PatternScan_GATA_ZN_FINGER_1,superfamily_Glucocorticoid receptor-like (DNA-binding domain) CACNA1F 778 genome.wustl.edu 37 X 49062163 49062163 + Silent SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_005183.2 -1 reviewed p.L1872 0.004 70 0% 81 35.8% 0 - - - - NULL SHROOM4 57477 genome.wustl.edu 37 X 50350812 50350812 + Missense_Mutation SNP C C A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_020717.3 -1 reviewed p.E1110D 0.957 36 0% 58 31% 1 0% possibly_damaging(0.882) tolerated(0.37) neutral(0.363) NULL PJA1 64219 genome.wustl.edu 37 X 68381244 68381244 + Missense_Mutation SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_145119.3 -1 reviewed p.C613Y 0.961 87 0% 101 44.6% 69 0% probably_damaging(0.99) deleterious(0) deleterious(0.886) HMMSmart_SM00184,HMMPfam_zf-C3HC4,superfamily_RING/U-box NONO 4841 genome.wustl.edu 37 X 70516832 70516832 + Missense_Mutation SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_001145408.1 +1 reviewed p.R293H 0.969 144 0% 206 21.4% 343 0% probably_damaging(0.987) deleterious(0.02) deleterious(0.820) NULL ERCC6L 54821 genome.wustl.edu 37 X 71427502 71427502 + Missense_Mutation SNP C C T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_017669.2 -1 validated p.R372Q 0.993 173 0.6% 191 35.1% 1 100% possibly_damaging(0.829) tolerated(0.06) deleterious(0.637) HMMPfam_SNF2_N GPRASP1 9737 genome.wustl.edu 37 X 101910660 101910662 + In_Frame_Del DEL GAG GAG - novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 GAG GAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_001099410.1 +1 reviewed p.E610in_frame_del 0.002:0.001:0.001 - - - - - - - - - NULL NKRF 55922 genome.wustl.edu 37 X 118723673 118723673 + Missense_Mutation SNP G G T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_017544.3 -1 reviewed p.S572Y 0.994 229 0% 238 32.4% 7 0% benign(0.24) deleterious(0.01) neutral(0.430) HMMPfam_G-patch,HMMSmart_SM00443 NKAP 79576 genome.wustl.edu 37 X 119077322 119077322 + Missense_Mutation SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_024528.3 -1 reviewed p.R83W 0.811 79 0% 88 39.8% 8 0% unknown(0) deleterious(0.01) - NULL CD40LG 959 genome.wustl.edu 37 X 135736571 135736571 + Missense_Mutation SNP A A T novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_000074.2 +1 reviewed p.S110C 0.000 153 0% 184 41.3% 0 - possibly_damaging(0.502) tolerated(0.07) deleterious(0.487) NULL PDZD4 57595 genome.wustl.edu 37 X 153069506 153069506 + Missense_Mutation SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_032512.2 -1 provisional p.R538W 1.000 6 0.000 14 0.357 0 - possibly_damaging(0.936) deleterious(0.02) deleterious(0.764) NULL MECP2 4204 genome.wustl.edu 37 X 153296524 153296524 + Missense_Mutation SNP C C T rs61750233 TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_001110792.1 -1 reviewed p.G264D 0.996 42 0% 57 31.6% 3 100% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL ATP6AP1 537 genome.wustl.edu 37 X 153662052 153662052 + Missense_Mutation SNP G G A novel TCGA-D1-A17D-01A-12D-A12J-09 TCGA-D1-A17D-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbf19a10-36ea-477e-9493-219a0985ef00 a6f258de-e3fc-4e59-8213-7bd0d7e2660b NM_001183.4 +1 reviewed p.V224I 0.131 87 0% 121 40.5% 233 0% benign(0.013) tolerated(0.14) neutral(0.250) HMMPfam_ATP-synt_S1