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 ATAD3A 55210 genome.wustl.edu 37 1 1451455 1451455 + Missense_Mutation SNP A A G novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_018188.3 +1 validated p.Q90R 1.000 20 0% 58 37.9% 8 25% benign(0.048) tolerated(0.11) neutral(0.275) NULL GABRD 2563 genome.wustl.edu 37 1 1960557 1960557 + Silent SNP G G A novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_000815.4 +1 reviewed p.Q233 0.999 12 0% 27 22.2% 0 - - - - HMMPfam_Neur_chan_LBD,superfamily_Neur_chan_LBD PTCHD2 57540 genome.wustl.edu 37 1 11561569 11561569 + Missense_Mutation SNP G G A novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_020780.1 +1 validated p.V174I 0.000 8 0.000 11 0.545 1 100% benign(0) tolerated(0.24) neutral(0.037) NULL PRDM2 7799 genome.wustl.edu 37 1 14057606 14057606 + Missense_Mutation SNP C C T novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_012231.4 +1 reviewed p.R41W 1.000 34 0% 34 47.1% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_SET,HMMSmart_SM00317,superfamily_SET domain CELA2A 63036 genome.wustl.edu 37 1 15792498 15792498 + Silent SNP C C T novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_033440.2 +1 reviewed p.N166 0.876 44 0% 94 23.4% 0 - - - - HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases RAP1GAP 5909 genome.wustl.edu 37 1 21977931 21977931 + Missense_Mutation SNP G G A novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 ENST00000374757 -1 known p.R78C 0.001 8 0.000 5 0.800 0 - unknown(0) - - NULL USP48 84196 genome.wustl.edu 37 1 22056252 22056252 + Missense_Mutation SNP C C T novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_032236.5 -1 reviewed p.M415I 1.000 209 0% 258 41.9% 34 44.1% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_UCH,superfamily_Cysteine proteinases MYOM3 127294 genome.wustl.edu 37 1 24397702 24397702 + Nonsense_Mutation SNP G G A rs183674235 by1000genomes TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_152372.3 -1 validated p.R1019* 0.086 52 0% 79 31.6% 1 0% - - - HMMSmart_SM00409,superfamily_Immunoglobulin RBBP4 5928 genome.wustl.edu 37 1 33117531 33117531 + Silent SNP A A G novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 ENST00000401893 +1 known p.Q32R 0.970 76 0% 94 40.4% 37 48.6% - - - NULL RNF19B 127544 genome.wustl.edu 37 1 33402734 33402734 + Missense_Mutation SNP T T G novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_153341.2 -1 validated p.E624D 0.894 57 0% 79 44.3% 27 37% benign(0.004) deleterious(0.01) neutral(0.406) NULL CSMD2 114784 genome.wustl.edu 37 1 33998830 33998830 + Splice_Site SNP C C T novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_052896.3 -1 validated e63-1 1.000 12 0% 29 31% 1 0% - - - - ZNF684 127396 genome.wustl.edu 37 1 41012248 41012248 + Missense_Mutation SNP C C G novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_152373.3 +1 validated p.L85V 0.000 75 0% 85 31.8% 2 0% benign(0.143) tolerated(0.35) neutral(0.033) NULL HIVEP3 59269 genome.wustl.edu 37 1 42048495 42048495 + Nonsense_Mutation SNP G G C novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_024503.3 -1 validated p.Y658* 0.731 118 0% 105 41% 0 - - - - HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers SLC6A9 6536 genome.wustl.edu 37 1 44476454 44476454 + Missense_Mutation SNP G G T novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_201649.2 -1 validated p.A117D 1.000 60 0% 134 38.1% 8 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SNF HPDL 84842 genome.wustl.edu 37 1 45793688 45793688 + Nonsense_Mutation SNP C C T novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_032756.2 +1 validated p.Q290* 1.000 31 0% 33 30.3% 0 - - - - superfamily_Glyoxalase/Bleomycin resistance protein/Dihydroxybiphenyl dioxygenase MKNK1 8569 genome.wustl.edu 37 1 47027214 47027214 + Missense_Mutation SNP A A G novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_003684.4 -1 validated p.L355P 1.000 89 0% 115 42.6% 21 33.3% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase CPT2 1376 genome.wustl.edu 37 1 53679117 53679117 + Silent SNP C C T novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_000098.2 +1 reviewed p.G609 1.000 100 0% 155 41.9% 25 32% - - - HMMPfam_Carn_acyltransf,superfamily_CoA-dependent acyltransferases USP24 23358 genome.wustl.edu 37 1 55591192 55591192 + Missense_Mutation SNP G G A novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_015306.2 -1 validated p.T1094M 0.726 213 0% 196 38.3% 6 50% benign(0.073) tolerated(0.08) neutral(0.305) NULL NFIA 4774 genome.wustl.edu 37 1 61869839 61869839 + Missense_Mutation SNP G G T novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_001145512.1 +1 reviewed p.G425V 1.000 133 0.8% 160 34.4% 15 46.6% probably_damaging(0.998) deleterious(0.04) deleterious(0.823) HMMPfam_CTF_NFI DIRAS3 9077 genome.wustl.edu 37 1 68512685 68512685 + Missense_Mutation SNP C C T novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_004675.2 -1 reviewed p.R99H 0.536 22 0% 42 47.6% 3 0% probably_damaging(0.994) deleterious(0.03) deleterious(0.817) HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,superfamily_P-loop containing nucleoside triphosphate hydrolases HS2ST1 9653 genome.wustl.edu 37 1 87570305 87570305 + Nonsense_Mutation SNP C C T novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_012262.3 +1 reviewed p.R333* 0.999 75 0% 81 22.2% 5 20% - - - HMMPfam_HS2ST COL11A1 1301 genome.wustl.edu 37 1 103491841 103491841 + Silent SNP T T G novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_001854.3 -1 reviewed p.A276 1.000 273 0% 299 28.4% 0 - - - - NULL CELSR2 1952 genome.wustl.edu 37 1 109801502 109801502 + Silent SNP G G A novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_001408.2 +1 reviewed p.A1253 1.000 10 0% 37 35.1% 4 25% - - - HMMPfam_EGF,HMMSmart_EGF,superfamily_SSF57196 SETDB1 9869 genome.wustl.edu 37 1 150921904 150921904 + Nonsense_Mutation SNP C C T novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_001145415.1 +1 reviewed p.R495* 1.000 100 0% 145 42.8% 5 20% - - - NULL KPRP 448834 genome.wustl.edu 37 1 152732925 152732925 + Silent SNP C C A novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_001025231.1 +1 provisional p.P287 0.001 29 0% 31 35.5% 0 - - - - NULL ZBTB7B 51043 genome.wustl.edu 37 1 154988705 154988705 + Missense_Mutation SNP G G T novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_015872.2 +1 validated p.K388N 1.000 10 0% 47 34% 46 32.6% possibly_damaging(0.947) tolerated(0.12) deleterious(0.651) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 MNDA 4332 genome.wustl.edu 37 1 158813155 158813155 + Missense_Mutation SNP G G A novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_002432.1 +1 reviewed p.A118T 0.000 39 0% 56 33.9% 4 0% benign(0.003) tolerated(1) - NULL IGSF9 57549 genome.wustl.edu 37 1 159900121 159900121 + Missense_Mutation SNP A A G novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_001135050.1 -1 validated p.L641P 0.994 12 0% 36 33.3% 14 78.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like KIFAP3 22920 genome.wustl.edu 37 1 170003518 170003520 + In_Frame_Del DEL TTC TTC - novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 TTC TTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_014970.2 -1 reviewed p.K246in_frame_del 1.000:1.000:1.000 - - - - - - - - - HMMPfam_KAP,superfamily_ARM repeat ZNF648 127665 genome.wustl.edu 37 1 182025535 182025535 + Silent SNP G G A novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_001009992.1 -1 provisional p.C537 0.997 71 0% 160 40.6% 0 - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 NCF2 4688 genome.wustl.edu 37 1 183536457 183536457 + Missense_Mutation SNP C C T novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_000433.3 -1 reviewed p.R246H 0.997 87 0% 88 40.9% 3 0% probably_damaging(0.997) deleterious(0.04) deleterious(0.815) HMMPfam_SH3_1,HMMSmart_SH3,superfamily_SH3 CDC73 79577 genome.wustl.edu 37 1 193111167 193111167 + Nonsense_Mutation SNP C C T novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_024529.4 +1 reviewed p.R234* 1.000 101 0% 71 40.8% 12 16.6% - - - HMMPfam_CDC73 KIF21B 23046 genome.wustl.edu 37 1 200972744 200972744 + Silent SNP C C T novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_017596.2 -1 provisional p.R394 0.991 79 0% 134 37.3% 0 - - - - NULL LGR6 59352 genome.wustl.edu 37 1 202245472 202245472 + Missense_Mutation SNP G G A novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_001017403.1 +1 reviewed p.R156K 1.000 25 0% 28 42.9% 1 0% benign(0.001) tolerated(0.6) neutral(0.004) HMMPfam_LRR_1,HMMSmart_SM00369,HMMSmart_SM00364,superfamily_RNI-like NFASC 23114 genome.wustl.edu 37 1 204966470 204966470 + Silent SNP T T C novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 ENST00000367172 +1 known p.A1092 0.381 191 0% 397 41.6% 0 - - - - NULL PFKFB2 5208 genome.wustl.edu 37 1 207242777 207242777 + Silent SNP T T C novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_006212.2 +1 reviewed p.C332 0.896 102 0% 103 31.1% 2 0% - - - HMMPfam_PGAM,superfamily_Phosphoglycerate mutase-like ACTA1 58 genome.wustl.edu 37 1 229568041 229568041 + Missense_Mutation SNP G G A novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_001100.3 -1 reviewed p.R198C 1.000 16 0% 29 34.5% 0 - possibly_damaging(0.593) - - HMMPfam_Actin,HMMSmart_SM00268,superfamily_Actin-like ATPase domain OR14C36 127066 genome.wustl.edu 37 1 248512079 248512079 + Missense_Mutation SNP G G A novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_001001918.1 +1 provisional p.M1I 0.722 88 0% 89 36% 0 - possibly_damaging(0.664) deleterious(0.01) deleterious(0.641) superfamily_SSF81321 LOC729769 729769 genome.wustl.edu 37 2 26217722 26217722 + Silent SNP A A G novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 XM_001131246.3 +1 model p.E38 0.912 94 0% 121 44.6% 0 - - - - superfamily_Non-heme 11 kDa protein of cytochrome bc1 complex (Ubiquinol-cytochrome c reductase) CEBPZ 10153 genome.wustl.edu 37 2 37455613 37455613 + Silent SNP C C T novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_005760.2 -1 validated p.S241 0.000 102 1% 117 45.3% 9 55.5% - - - NULL GALM 130589 genome.wustl.edu 37 2 38908466 38908466 + Silent SNP G G A novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_138801.2 +1 reviewed p.S130 0.001 45 0% 34 38.2% 28 46.4% - - - HMMPfam_Aldose_epim,superfamily_Galactose mutarotase-like TMEM178 130733 genome.wustl.edu 37 2 39944377 39944377 + Missense_Mutation SNP G G T novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_152390.2 +1 validated p.D294Y 1.000 91 0% 102 40.2% 86 53.4% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL ZFP36L2 678 genome.wustl.edu 37 2 43452495 43452496 + Frame_Shift_Ins INS - - G novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_006887.4 -1 reviewed p.N149fs 1.000:1.000 - - - - - - - - - NULL THADA 63892 genome.wustl.edu 37 2 43802152 43802152 + Missense_Mutation SNP G G A rs138256193 by1000genomes TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_001083953.1 -1 validated p.T351M 0.997 88 0% 69 37.7% 5 0% probably_damaging(0.978) deleterious(0) deleterious(0.865) NULL PSME4 23198 genome.wustl.edu 37 2 54146372 54146372 + Missense_Mutation SNP A A G novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_014614.2 -1 validated p.L811P 0.995 99 0% 130 34.6% 15 40% possibly_damaging(0.657) tolerated(0.25) neutral(0.269) NULL SPTBN1 6711 genome.wustl.edu 37 2 54851941 54851941 + Missense_Mutation SNP G G A novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_003128.2 +1 reviewed p.A395T 1.000 25 0% 33 36.4% 14 42.8% possibly_damaging(0.575) deleterious(0) deleterious(0.641) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat EML6 400954 genome.wustl.edu 37 2 55186384 55186384 + Silent SNP C C T rs182241171 by1000genomes TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_001039753.2 +1 validated p.G1613 0.003 32 0% 46 30.4% 0 - - - - HMMSmart_SM00320,superfamily_YVTN repeat-like/Quinoprotein amine dehydrogenase SLC1A4 6509 genome.wustl.edu 37 2 65243638 65243638 + Missense_Mutation SNP G G A novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_003038.3 +1 validated p.V289M 0.149 68 0% 112 34.8% 20 35% benign(0.002) tolerated(0.16) neutral(0.059) HMMPfam_SDF ALMS1 7840 genome.wustl.edu 37 2 73679192 73679192 + Silent SNP G G A novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_015120.4 +1 reviewed p.L1845 0.000 65 0% 47 42.6% 0 - - - - NULL C2orf81 388963 genome.wustl.edu 37 2 74642070 74642070 + Missense_Mutation SNP C C T novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_001145054.1 -1 predicted p.E385K 0.000 9 0.000 18 0.222 14 28.5% benign(0.004) tolerated(0.33) neutral(0.024) NULL FAM176A 84141 genome.wustl.edu 37 2 75720574 75720574 + Missense_Mutation SNP C C T novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_001135032.1 -1 validated p.D83N 1.000 13 0% 39 38.5% 3 0% probably_damaging(1) tolerated(0.16) deleterious(0.559) NULL RMND5A 64795 genome.wustl.edu 37 2 86997177 86997180 + Frame_Shift_Del DEL TTAA TTAA - novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 TTAA TTAA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_022780.3 +1 validated p.I297fs 0.578:0.996:0.996:1.000 - - - - - - - - - HMMSmart_SM00757 INPP4A 3631 genome.wustl.edu 37 2 99154342 99154342 + Missense_Mutation SNP C C T novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_001134224.1 +1 reviewed p.R162C 1.000 44 0% 76 39.5% 2 50% probably_damaging(0.992) deleterious(0.01) deleterious(0.853) NULL AFF3 3899 genome.wustl.edu 37 2 100623168 100623168 + Missense_Mutation SNP C C T novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_001025108.1 -1 reviewed p.V292I 0.301 20 0% 41 19.5% 0 - possibly_damaging(0.808) tolerated(0.54) neutral(0.311) HMMPfam_AF-4 IL1R1 3554 genome.wustl.edu 37 2 102793124 102793124 + Missense_Mutation SNP C C T novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_000877.2 +1 reviewed p.P539S 1.000 42 0% 46 30.4% 14 35.7% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00255,superfamily_Toll/Interleukin receptor TIR domain SAP130 79595 genome.wustl.edu 37 2 128699728 128699728 + Missense_Mutation SNP T T C novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_024545.3 -1 validated p.Q1000R 1.000 146 0.7% 128 42.2% 30 40% benign(0.25) deleterious(0) deleterious(0.470) NULL EPC2 26122 genome.wustl.edu 37 2 149542570 149542571 + Frame_Shift_Ins INS - - GT novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_015630.3 +1 validated p.E785fs 1.000:1.000 - - - - - - - - - HMMPfam_E_Pc_C RIF1 55183 genome.wustl.edu 37 2 152279514 152279514 + Silent SNP C C T novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 ENST00000414861 +1 known p.R240C 0.879 105 0% 117 40.2% 1 100% - - - superfamily_ARM repeat LY75 4065 genome.wustl.edu 37 2 160735160 160735160 + Missense_Mutation SNP G G C novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_002349.2 -1 validated p.L530V 1.000 182 0% 173 35.3% 1 0% probably_damaging(1) tolerated(0.56) deleterious(0.506) HMMPfam_Lectin_C,HMMSmart_SM00034,superfamily_C-type lectin-like DPP4 1803 genome.wustl.edu 37 2 162868382 162868382 + Missense_Mutation SNP A A G novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_001935.3 -1 reviewed p.Y585H 1.000 115 0% 127 40.9% 8 37.5% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Peptidase_S9,superfamily_alpha/beta-Hydrolases XIRP2 129446 genome.wustl.edu 37 2 168100558 168100558 + Missense_Mutation SNP G G T novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_152381.4 +1 validated p.A886S 0.003 34 0% 34 47.1% 0 - possibly_damaging(0.897) tolerated(0.19) neutral(0.403) NULL XIRP2 129446 genome.wustl.edu 37 2 168103376 168103376 + Missense_Mutation SNP A A G novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_152381.4 +1 validated p.Q1825R 0.134 64 0% 65 35.4% 0 - possibly_damaging(0.896) tolerated(0.26) neutral(0.387) HMMPfam_Xin LRP2 4036 genome.wustl.edu 37 2 170139451 170139451 + Missense_Mutation SNP C C T novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_004525.2 -1 reviewed p.R368H 0.007 59 0% 104 10.6% 0 - benign(0) tolerated(0.06) neutral(0.323) HMMSmart_EGF,superfamily_Grow_fac_recept TTN 7273 genome.wustl.edu 37 2 179497357 179497357 + Missense_Mutation SNP C C T novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 ENST00000356127 -1 known p.G11891D 1.000 187 0% 172 43% 0 - benign(0.29) - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179594422 179594422 + Silent SNP C C T novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 ENST00000356127 -1 known p.T4942 0.019 70 0% 84 11.9% 0 - - - - HMMSmart_SM00409,HMMPfam_I-set ZNF804A 91752 genome.wustl.edu 37 2 185802718 185802718 + Silent SNP C C T novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_194250.1 +1 provisional p.I865 0.000 59 0% 49 57.1% 0 - - - - NULL SPAG16 79582 genome.wustl.edu 37 2 215274985 215274985 + Silent SNP C C T novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_024532.3 +1 validated p.D614 0.000 98 0% 125 36.8% 0 - - - - HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 GIGYF2 26058 genome.wustl.edu 37 2 233620987 233620987 + Missense_Mutation SNP G G C novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_001103147.1 +1 reviewed p.G108R 1.000 73 0% 108 10.2% 6 0% probably_damaging(0.989) deleterious(0.02) deleterious(0.823) NULL CHL1 10752 genome.wustl.edu 37 3 423919 423919 + Missense_Mutation SNP G G A novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_006614.2 +1 reviewed p.R645Q 1.000 79 0% 78 38.5% 0 - benign(0.013) tolerated(0.65) neutral(0.004) HMMSmart_SM00060,superfamily_Fibronectin type III TSEN2 80746 genome.wustl.edu 37 3 12545080 12545080 + Missense_Mutation SNP G G A rs186223564 by1000genomes TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_001145392.1 +1 reviewed p.V210M 0.000 58 0% 64 35.9% 10 50% benign(0) tolerated(0.15) neutral(0.241) NULL SUSD5 26032 genome.wustl.edu 37 3 33195452 33195452 + Missense_Mutation SNP C C A novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_015551.1 -1 validated p.M224I 0.995 47 0% 40 50% 0 - benign(0.024) deleterious(0) neutral(0.446) NULL NKTR 4820 genome.wustl.edu 37 3 42672685 42672685 + Missense_Mutation SNP G G T novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_005385.3 +1 reviewed p.V143F 1.000 208 0% 223 30.9% 7 28.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Pro_isomerase,superfamily_CSA_PPIase PTPN23 25930 genome.wustl.edu 37 3 47454419 47454419 + Missense_Mutation SNP T T C rs150037620 by1000genomes TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_015466.2 +1 validated p.L1552P 0.871 4 0.000 32 0.438 12 25% unknown(0) tolerated(0.11) - NULL UBA7 7318 genome.wustl.edu 37 3 49845239 49845239 + Missense_Mutation SNP C C T novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_003335.2 -1 reviewed p.R882H 1.000 43 0% 104 34.6% 126 42.8% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_MoeB,HMMPfam_UBA_e1_C RBM15B 29890 genome.wustl.edu 37 3 51430210 51430210 + Silent SNP C C T novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_013286.3 +1 validated p.Y460 0.600 23 0% 50 42% 34 50% - - - HMMPfam_RRM_1,HMMSmart_RRM,superfamily_SSF54928 VPRBP 9730 genome.wustl.edu 37 3 51457723 51457723 + Silent SNP G G T novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_014703.2 -1 validated p.R848 1.000 64 0% 118 38.1% 12 58.3% - - - NULL GRM2 2912 genome.wustl.edu 37 3 51749898 51749898 + Silent SNP G G T novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_000839.3 +1 reviewed p.P703 0.029 15 0% 35 40% 0 - - - - HMMPfam_7tm_3 NISCH 11188 genome.wustl.edu 37 3 52521346 52521346 + Missense_Mutation SNP C C T novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_007184.3 +1 validated p.A613V 0.976 25 0% 54 35.2% 9 22.2% possibly_damaging(0.8) deleterious(0) deleterious(0.746) NULL CACNA1D 776 genome.wustl.edu 37 3 53842766 53842766 + Missense_Mutation SNP C C T novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_000720.2 +1 validated p.T1967M 1.000 13 0% 34 44.1% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL SNTN 132203 genome.wustl.edu 37 3 63645470 63645470 + Missense_Mutation SNP A A G novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_001080537.1 +1 provisional p.D72G 1.000 155 0% 158 43% 19 36.8% probably_damaging(0.998) deleterious(0) deleterious(0.919) superfamily_SSF47473 BBX 56987 genome.wustl.edu 37 3 107493571 107493571 + Nonsense_Mutation SNP C C T novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_001142568.1 +1 validated p.R641* 1.000 99 0% 108 42.6% 6 16.6% - - - NULL HCLS1 3059 genome.wustl.edu 37 3 121353189 121353191 + In_Frame_Del DEL CTC CTC - novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 CTC CTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_005335.4 -1 validated p.E256in_frame_del 1.000:1.000:1.000 - - - - - - - - - NULL MCM2 4171 genome.wustl.edu 37 3 127339622 127339622 + Missense_Mutation SNP C C T novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_004526.2 +1 reviewed p.R783W 1.000 49 0% 45 46.7% 48 45.8% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_MCM,HMMSmart_MCM,superfamily_SSF52540 ACPP 55 genome.wustl.edu 37 3 132061395 132061395 + Splice_Site SNP G G T novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_001134194.1 +1 reviewed e6-1 1.000 323 0% 268 35.4% 0 - - - - - ZBBX 79740 genome.wustl.edu 37 3 167068281 167068283 + In_Frame_Del DEL TCT TCT - novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 TCT TCT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_024687.2 -1 validated p.E151in_frame_del 1.000:1.000:1.000 - - - - - - - - - HMMPfam_zf-B_box PIK3CA 5290 genome.wustl.edu 37 3 178916946 178916946 + Missense_Mutation SNP G G T novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_006218.2 +1 reviewed p.K111N 1.000 64 0% 47 31.9% 1 100% probably_damaging(0.999) tolerated(0.06) deleterious(0.813) superfamily_SSF54236 PIK3CA 5290 genome.wustl.edu 37 3 178952077 178952077 + Missense_Mutation SNP T T G novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_006218.2 +1 reviewed p.N1044K 1.000 113 0% 84 29.8% 5 20% probably_damaging(0.983) tolerated(0.05) deleterious(0.774) HMMSmart_PI3Kc,superfamily_Kinase_like YEATS2 55689 genome.wustl.edu 37 3 183508704 183508704 + Silent SNP C C T novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 ENST00000432781 +1 known p.R197C 0.016 35 0% 65 29.2% 6 16.6% - - - NULL CLDN16 10686 genome.wustl.edu 37 3 190120186 190120186 + Missense_Mutation SNP C C T novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_006580.3 +1 reviewed p.R129C 1.000 92 0% 114 40.4% 0 - probably_damaging(0.999) tolerated(0.16) deleterious(0.550) HMMPfam_PMP22_Claudin,PatternScan_CLAUDIN TMEM175 84286 genome.wustl.edu 37 4 949246 949246 + Silent SNP C C G novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 ENST00000505148 +1 known p.R64G 0.087 37 0% 91 44% 27 37% - - - NULL MXD4 10608 genome.wustl.edu 37 4 2252954 2252954 + Missense_Mutation SNP C C T novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_006454.2 -1 reviewed p.R110H 1.000 10 0% 19 47.4% 70 27.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_HLH,superfamily_HLH_basic SEL1L3 23231 genome.wustl.edu 37 4 25836857 25836857 + Missense_Mutation SNP C C A novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_015187.3 -1 validated p.E274D 1.000 35 0% 55 25.5% 17 52.9% possibly_damaging(0.765) tolerated(0.16) neutral(0.343) NULL PHOX2B 8929 genome.wustl.edu 37 4 41748145 41748145 + Silent SNP G G A novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 ENST00000510424 -1 known p.A148V 0.547 16 0% 21 38.1% 0 - - - - NULL AASDH 132949 genome.wustl.edu 37 4 57211380 57211380 + Silent SNP A A G novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_181806.2 -1 validated p.A855 0.826 182 0% 255 34.1% 11 27.2% - - - HMMPfam_PQQ,superfamily_Quinoprotein alcohol dehydrogenase-like LPHN3 23284 genome.wustl.edu 37 4 62758462 62758462 + Silent SNP C C T novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_015236.4 +1 reviewed p.T455 0.999 79 0% 96 41.7% 2 0% - - - NULL SEPT11 55752 genome.wustl.edu 37 4 77932928 77932928 + Missense_Mutation SNP G G A novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_018243.2 +1 validated p.A127T 1.000 93 0% 116 30.2% 13 0% benign(0.001) tolerated(0.25) neutral(0.037) HMMPfam_Septin,superfamily_SSF52540 AFF1 4299 genome.wustl.edu 37 4 87967977 87967977 + Missense_Mutation SNP C C A novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_005935.2 +1 validated p.P90Q 0.815 45 0% 58 36.2% 1 100% probably_damaging(0.969) deleterious(0) deleterious(0.856) HMMPfam_AF-4 MANBA 4126 genome.wustl.edu 37 4 103556160 103556160 + Missense_Mutation SNP G G A novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_005908.3 -1 reviewed p.R734C 0.000 47 0% 56 37.5% 13 46.1% possibly_damaging(0.771) tolerated(0.17) neutral(0.345) NULL SH3RF1 57630 genome.wustl.edu 37 4 170190013 170190013 + Silent SNP G G A novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_020870.3 -1 reviewed p.G117 0.979 13 0% 22 40.9% 12 41.6% - - - superfamily_SH3-domain ODZ3 55714 genome.wustl.edu 37 4 183673132 183673132 + Missense_Mutation SNP C C T novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_001080477.1 +1 provisional p.A1270V 1.000 39 0% 41 53.7% 0 - benign(0.142) tolerated(0.13) neutral(0.265) superfamily_ConA_like_lec_gl,superfamily_SSF101898 CDH10 1008 genome.wustl.edu 37 5 24537735 24537735 + Missense_Mutation SNP A A G novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_006727.2 -1 reviewed p.S94P 1.000 138 0% 129 41.9% 0 - possibly_damaging(0.512) deleterious(0.02) deleterious(0.555) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin SPEF2 79925 genome.wustl.edu 37 5 35763777 35763777 + Silent SNP G G A novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_024867.3 +1 validated p.Q1258 0.995 103 0% 120 35% 3 33.3% - - - NULL NIPBL 25836 genome.wustl.edu 37 5 36976473 36976473 + Silent SNP G G A novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_133433.3 +1 reviewed p.R488 1.000 76 0% 55 36.4% 3 33.3% - - - superfamily_ARM repeat C5orf34 375444 genome.wustl.edu 37 5 43502519 43502519 + Silent SNP A A G novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_198566.1 -1 predicted p.L369S 0.842 100 0% 152 35.5% 2 50% - - - NULL ZNF366 167465 genome.wustl.edu 37 5 71752353 71752353 + Missense_Mutation SNP C C T novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_152625.1 -1 provisional p.V468M 1.000 85 0% 130 46.2% 1 0% benign(0.33) tolerated(0.37) neutral(0.122) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers HMGCR 3156 genome.wustl.edu 37 5 74646666 74646668 + In_Frame_Del DEL CTC CTC - novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 CTC CTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_000859.2 +1 reviewed p.P279in_frame_del 1.000:0.983:0.993 - - - - - - - - - NULL RASA1 5921 genome.wustl.edu 37 5 86564866 86564866 + Missense_Mutation SNP T T C novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_022650.1 +1 reviewed p.M1T 0.001 213 0% 192 36.5% 0 - benign(0.008) deleterious(0) neutral(0.445) NULL MCC 4163 genome.wustl.edu 37 5 112384918 112384918 + Missense_Mutation SNP G G A novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_001085377.1 -1 reviewed p.R843W 1.000 15 0% 32 46.9% 11 54.5% possibly_damaging(0.827) tolerated(0.11) deleterious(0.586) NULL HSPA4 3308 genome.wustl.edu 37 5 132440003 132440003 + Missense_Mutation SNP G G A novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_002154.3 +1 validated p.A800T 0.044 52 0% 57 31.6% 221 42.9% benign(0) tolerated(0.2) neutral(0.049) NULL NDUFA2 4695 genome.wustl.edu 37 5 140027161 140027161 + Missense_Mutation SNP G G A novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_002488.4 -1 reviewed p.A3V 0.991 10 0% 13 53.8% 166 35.5% possibly_damaging(0.801) deleterious(0.01) deleterious(0.707) NULL PCDHA5 56143 genome.wustl.edu 37 5 140203361 140203361 + Silent SNP G G A novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_018908.2 +1 reviewed p.S667 0.573 13 0% 26 26.9% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHA10 56139 genome.wustl.edu 37 5 140236991 140236991 + Missense_Mutation SNP C C T novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_018901.2 +1 reviewed p.A453V 0.000 13 0% 25 80% 0 - benign(0.012) tolerated(0.6) neutral(0.005) superfamily_Cadherin-like PCDHB5 26167 genome.wustl.edu 37 5 140516543 140516543 + Silent SNP C C T novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_015669.2 +1 reviewed p.N509 0.044 31 0% 74 36.5% 1 0% - - - HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin PCDHGA5 56110 genome.wustl.edu 37 5 140745574 140745574 + Silent SNP G G A novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_018918.2 +1 reviewed p.T559 0.000 73 0% 107 50.5% 3 33.3% - - - HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Cadherin-like ADRA1B 147 genome.wustl.edu 37 5 159344145 159344145 + Missense_Mutation SNP C C T novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_000679.3 +1 reviewed p.T78M 1.000 24 0% 33 42.4% 1 0% probably_damaging(0.991) deleterious(0) deleterious(0.889) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like ODZ2 57451 genome.wustl.edu 37 5 167674569 167674569 + Missense_Mutation SNP G G T novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_001122679.1 +1 inferred p.G2200W 1.000 54 0% 45 33.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RHS_repeat SLIT3 6586 genome.wustl.edu 37 5 168093591 168093591 + Silent SNP C C A novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_003062.2 -1 validated p.G1480 0.999 24 0% 52 48.1% 7 0% - - - HMMSmart_SM00041 BOD1 91272 genome.wustl.edu 37 5 173040242 173040242 + Missense_Mutation SNP A A G novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_138369.2 -1 validated p.L85P 1.000 222 0% 241 39% 20 55% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL RREB1 6239 genome.wustl.edu 37 6 7231912 7231912 + Missense_Mutation SNP A A G novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_001003699.3 +1 reviewed p.S1194G 1.000 10 0% 15 53.3% 8 50% possibly_damaging(0.775) tolerated(0.06) deleterious(0.611) NULL HIVEP1 3096 genome.wustl.edu 37 6 12124685 12124685 + Missense_Mutation SNP G G A novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_002114.2 +1 validated p.E1553K 0.108 84 0% 89 36% 1 0% benign(0) tolerated(0.98) - NULL HLA-F 3134 genome.wustl.edu 37 6 29693059 29693059 + Missense_Mutation SNP C C T novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_001098479.1 +1 reviewed p.P288S 0.707 24 0% 51 41.2% 310 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_C1-set,HMMSmart_IGc1,superfamily_SSF48726 TAPBP 6892 genome.wustl.edu 37 6 33272871 33272871 + Missense_Mutation SNP T T A novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_003190.4 -1 reviewed p.T255S 0.985 31 0% 56 39.3% 30 23.3% benign(0.026) tolerated(1) neutral(0.001) NULL SRPK1 6732 genome.wustl.edu 37 6 35825086 35825086 + Silent SNP G G T novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_003137.3 -1 reviewed p.I524 0.927 200 0% 246 40.2% 16 37.5% - - - HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase TRERF1 55809 genome.wustl.edu 37 6 42237131 42237131 + Silent SNP G G A novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_033502.2 -1 reviewed p.G66 0.991 62 0% 111 11.7% 1 0% - - - NULL CUL7 9820 genome.wustl.edu 37 6 43017310 43017310 + Missense_Mutation SNP T T C novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_014780.4 -1 reviewed p.S554G 0.709 63 0% 106 34% 5 20% possibly_damaging(0.9) deleterious(0.02) deleterious(0.740) NULL KLC4 89953 genome.wustl.edu 37 6 43029183 43029183 + Missense_Mutation SNP G G A novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_201523.1 +1 validated p.R55H 1.000 11 0% 32 40.6% 8 75% benign(0.021) tolerated(0.08) neutral(0.301) NULL CDC5L 988 genome.wustl.edu 37 6 44413549 44413549 + Missense_Mutation SNP G G A novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_001253.2 +1 reviewed p.R750H 0.976 148 0% 145 38.6% 53 35.8% benign(0.004) tolerated(0.13) neutral(0.253) NULL UBE3D 90025 genome.wustl.edu 37 6 83732184 83732184 + Silent SNP T T C novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_198920.1 -1 provisional p.K278 0.006 53 0% 51 31.4% 2 50% - - - HMMPfam_DUF2351 GJA10 84694 genome.wustl.edu 37 6 90604244 90604244 + Silent SNP C C A novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_032602.1 +1 validated p.T19 0.982 81 0% 74 36.5% 1 0% - - - HMMPfam_Connexin AIM1 202 genome.wustl.edu 37 6 107011704 107011704 + Silent SNP G G A novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_001624.2 +1 validated p.L1660 1.000 42 0% 59 42.4% 8 0% - - - HMMPfam_Ricin_B_lectin,HMMSmart_RICIN,superfamily_RicinB_like ARMC2 84071 genome.wustl.edu 37 6 109220943 109220943 + Silent SNP C C T novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_032131.4 +1 validated p.D265 0.045 70 0% 70 30% 2 0% - - - superfamily_ARM-type_fold DCBLD1 285761 genome.wustl.edu 37 6 117861857 117861857 + Silent SNP G G A novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_173674.1 +1 provisional p.R376 0.927 74 0% 90 23.3% 6 33.3% - - - HMMPfam_F5_F8_type_C,HMMSmart_SM00231,superfamily_Galactose-binding domain-like ENPP3 5169 genome.wustl.edu 37 6 131995375 131995375 + Missense_Mutation SNP T T A novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_005021.3 +1 reviewed p.L239H 1.000 46 0% 79 41.8% 2 100% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Phosphodiest,superfamily_Alkaline_phosphatase_core ALDH8A1 64577 genome.wustl.edu 37 6 135254110 135254110 + Missense_Mutation SNP A A G novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_022568.2 -1 reviewed p.L218P 1.000 23 0% 18 55.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Aldedh,superfamily_ALDH-like NHSL1 57224 genome.wustl.edu 37 6 138752680 138752682 + In_Frame_Del DEL AGG AGG - novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 AGG AGG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_001144060.1 -1 validated p.P934in_frame_del 0.111:0.417:0.393 - - - - - - - - - NULL RAET1L 154064 genome.wustl.edu 37 6 150343269 150343269 + Missense_Mutation SNP A A G novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_130900.2 -1 validated p.C66R 0.009 199 0% 204 36.3% 5 20% probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_MHC_I/II-like_Ag-recog DNAH11 8701 genome.wustl.edu 37 7 21744219 21744219 + Silent SNP G G A novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_003777.3 +1 reviewed p.L2154 1.000 46 0% 63 34.9% 1 0% - - - superfamily_P-loop containing nucleoside triphosphate hydrolases CCDC126 90693 genome.wustl.edu 37 7 23651024 23651024 + Silent SNP G G A novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_138771.3 +1 validated p.L30 0.987 173 0.6% 187 40.6% 7 42.8% - - - NULL SFRP4 6424 genome.wustl.edu 37 7 37953987 37953987 + Missense_Mutation SNP G G A novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_003014.3 -1 reviewed p.R172C 1.000 180 0% 182 36.3% 66 0% probably_damaging(0.986) tolerated(0.07) deleterious(0.754) superfamily_TIMP_like VPS41 27072 genome.wustl.edu 37 7 38813752 38813752 + Silent SNP T T C novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_014396.3 -1 reviewed p.R325 0.998 123 0% 135 45.2% 4 75% - - - superfamily_WD40 repeat-like VOPP1 81552 genome.wustl.edu 37 7 55559980 55559980 + Missense_Mutation SNP C C T novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_030796.3 -1 validated p.G108D 0.492 17 0% 57 36.8% 33 42.4% unknown(0) tolerated(0.12) - NULL POM121 9883 genome.wustl.edu 37 7 72397411 72397411 + Missense_Mutation SNP C C T novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_172020.1 +1 reviewed p.T46I 0.998 362 0% 424 43.4% 7 42.8% possibly_damaging(0.815) tolerated(0.14) deleterious(0.557) NULL IMMP2L 83943 genome.wustl.edu 37 7 110303688 110303688 + Silent SNP C C T novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_032549.2 -1 provisional p.E166 1.000 68 0% 77 33.8% 5 40% - - - NULL IFRD1 3475 genome.wustl.edu 37 7 112096997 112096997 + Missense_Mutation SNP G G T novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_001007245.1 +1 validated p.G105C 1.000 138 0% 167 40.7% 20 25% probably_damaging(0.971) tolerated(0.06) deleterious(0.736) HMMPfam_IFRD,superfamily_ARM repeat FOXP2 93986 genome.wustl.edu 37 7 114269985 114269985 + Silent SNP A A G novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_148898.2 +1 reviewed p.Q199 0.894 28 0% 50 26% 0 - - - - NULL TMEM229A 730130 genome.wustl.edu 37 7 123672783 123672783 + Missense_Mutation SNP T T C novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_001136002.1 -1 validated p.Y92C 1.000 13 0% 21 57.1% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL POT1 25913 genome.wustl.edu 37 7 124481050 124481050 + Missense_Mutation SNP T T C novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_015450.2 -1 reviewed p.N449S 0.995 202 0% 184 42.9% 14 64.2% benign(0) tolerated(0.94) - NULL TRBV6-5 28602 genome.wustl.edu 37 7 142180948 142180948 + Missense_Mutation SNP C C T novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 ENST00000390368 -1 known p.M1I 0.246 74 0% 87 42.5% 1 0% probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL KEL 3792 genome.wustl.edu 37 7 142651360 142651360 + Missense_Mutation SNP T T C novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_000420.2 -1 reviewed p.T279A 0.250 67 0% 69 47.8% 0 - possibly_damaging(0.677) deleterious(0.01) deleterious(0.647) "HMMPfam_Peptidase_M13_N,superfamily_Metalloproteases (""zincins"") catalytic domain" SSPO 23145 genome.wustl.edu 37 7 149503140 149503140 + Missense_Mutation SNP T T C novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 ENST00000378016 +1 known p.C2882R 1.000 20 0% 35 31.4% 0 - - - - HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat,superfamily_Serine proterase inhibitors GIMAP8 155038 genome.wustl.edu 37 7 150174508 150174508 + Silent SNP G G A novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_175571.2 +1 reviewed p.A546 0.000 61 0% 91 35.2% 3 0% - - - HMMPfam_AIG1,superfamily_SSF52540 DPP6 1804 genome.wustl.edu 37 7 154595584 154595584 + Missense_Mutation SNP G G A novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 ENST00000377770 +1 known p.S473N 1.000 39 0% 81 35.8% 0 - possibly_damaging(0.575) tolerated(0.26) neutral(0.231) HMMPfam_DPPIV_N,superfamily_Dipeptidyl peptidase IV/CD26 N-terminal domain UBE3C 9690 genome.wustl.edu 37 7 157049657 157049657 + Silent SNP G G T novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_014671.2 +1 validated p.V1000 0.433 146 0% 150 36% 24 41.6% - - - HMMPfam_HECT,HMMSmart_SM00119,superfamily_Hect E3 ligase catalytic domain CLU 1191 genome.wustl.edu 37 8 27462760 27462760 + Silent SNP C C T novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_001831.2 -1 reviewed p.T222 0.016 38 0% 52 38.5% 63 38% - - - HMMPfam_Clusterin,HMMSmart_CLb KCNU1 157855 genome.wustl.edu 37 8 36780144 36780144 + Silent SNP C C T novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_001031836.2 +1 validated p.A911 1.000 136 0% 152 46.1% 0 - - - - NULL ANK1 286 genome.wustl.edu 37 8 41552244 41552244 + Missense_Mutation SNP T T C novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_001142446.1 -1 reviewed p.I1106V 1.000 49 0% 91 34.1% 1 100% benign(0) tolerated(1) - NULL TRAM1 23471 genome.wustl.edu 37 8 71495485 71495485 + Missense_Mutation SNP C C A novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_014294.5 -1 reviewed p.R322M 1.000 195 0% 205 43.9% 104 36.5% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMSmart_SM00724 LOC392232 392232 genome.wustl.edu 37 8 73157172 73157172 + RNA SNP C C T novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 XR_037363.2 -1 model NULL 0.996 93 0% 80 27.5% 0 - - - - - ODF1 4956 genome.wustl.edu 37 8 103564084 103564084 + Silent SNP C C A novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_024410.3 +1 reviewed p.P43 0.022 97 0% 182 36.8% 0 - - - - NULL SAMD12 401474 genome.wustl.edu 37 8 119593052 119593052 + Missense_Mutation SNP C C A novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_207506.2 -1 validated p.G32C 1.000 88 0% 82 37.8% 0 - probably_damaging(0.997) deleterious(0.02) deleterious(0.849) NULL KCNK9 51305 genome.wustl.edu 37 8 140630833 140630833 + Missense_Mutation SNP C C T novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_016601.2 -1 reviewed p.A265T 0.877 18 0% 22 45.5% 0 - benign(0) tolerated(0.52) neutral(0.009) superfamily_SSF81324 TRAPPC9 83696 genome.wustl.edu 37 8 140743314 140743314 + Missense_Mutation SNP G G A novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_031466.5 -1 reviewed p.A1244V 0.926 16 0% 31 41.9% 45 40% benign(0.013) tolerated(0.06) neutral(0.323) NULL UBE2R2 54926 genome.wustl.edu 37 9 33886954 33886954 + Missense_Mutation SNP A A G rs112637167 TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_017811.3 +1 reviewed p.N85D 1.000 104 0% 121 34.7% 54 51.8% probably_damaging(0.991) deleterious(0) deleterious(0.889) HMMPfam_UQ_con,HMMSmart_SM00212,PatternScan_UBIQUITIN_CONJUGAT_1,superfamily_UBC-like KIAA1161 57462 genome.wustl.edu 37 9 34372047 34372047 + Missense_Mutation SNP G G A novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 ENST00000297625 -1 known p.R265C 1.000 10 0% 24 25% 2 50% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Glyco_hydro_31,superfamily_(Trans)glycosidases ALDH1B1 219 genome.wustl.edu 37 9 38396907 38396907 + Missense_Mutation SNP G G A novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_000692.3 +1 reviewed p.G388R 1.000 60 0% 75 41.3% 2 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Aldedh,superfamily_ALDH-like TRPM6 140803 genome.wustl.edu 37 9 77386635 77386635 + Nonsense_Mutation SNP G G A novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_017662.4 -1 reviewed p.R1174* 1.000 146 0% 183 31.7% 0 - - - - NULL TRPM6 140803 genome.wustl.edu 37 9 77411798 77411798 + Silent SNP G G A novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_017662.4 -1 reviewed p.S750 0.985 156 0% 138 30.4% 0 - - - - NULL TDRD7 23424 genome.wustl.edu 37 9 100227188 100227188 + Missense_Mutation SNP A A G novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_014290.2 +1 validated p.S503G 1.000 108 0% 121 38.8% 8 37.5% benign(0.024) tolerated(0.32) neutral(0.025) HMMPfam_TUDOR TBC1D2 55357 genome.wustl.edu 37 9 100965684 100965684 + Silent SNP C C T novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_018421.3 -1 validated p.A719 0.511 26 0% 48 41.7% 16 56.2% - - - HMMPfam_TBC,HMMSmart_TBC,superfamily_RabGAP_TBC PTPN3 5774 genome.wustl.edu 37 9 112172595 112172595 + Missense_Mutation SNP C C A novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_002829.3 -1 reviewed p.G472C 0.975 63 0% 70 30% 0 - probably_damaging(0.999) deleterious(0.03) deleterious(0.855) NULL KIAA0368 23392 genome.wustl.edu 37 9 114133913 114133913 + Silent SNP C C T novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_001080398.1 -1 provisional p.T1753 0.697 93 0% 130 35.4% 62 40.3% - - - superfamily_ARM repeat PPP2R4 5524 genome.wustl.edu 37 9 131904842 131904842 + Missense_Mutation SNP G G A novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 ENST00000435305 +1 known p.G40D 0.071 22 0% 34 23.5% 2 100% benign(0.349) tolerated(0.11) neutral(0.382) NULL NUP214 8021 genome.wustl.edu 37 9 134051001 134051001 + Missense_Mutation SNP G G T rs150292060 by1000genomes TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_005085.2 +1 reviewed p.Q1104H 0.415 24 0% 36 30.6% 7 71.4% probably_damaging(0.959) deleterious(0) deleterious(0.847) NULL RAPGEF1 2889 genome.wustl.edu 37 9 134514084 134514084 + Nonsense_Mutation SNP C C A novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_198679.1 -1 reviewed p.E198* 1.000 82 0% 150 44% 8 37.5% - - - NULL ANAPC2 29882 genome.wustl.edu 37 9 140076259 140076259 + Missense_Mutation SNP C C T novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_013366.3 -1 reviewed p.G448R 1.000 14 0% 22 36.4% 23 56.5% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_Cullin UPF2 26019 genome.wustl.edu 37 10 12006066 12006066 + Missense_Mutation SNP G G T novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_015542.2 -1 reviewed p.T709K 1.000 64 0% 70 37.1% 6 33.3% possibly_damaging(0.95) deleterious(0.03) deleterious(0.758) HMMPfam_MIF4G,HMMSmart_SM00543,superfamily_ARM repeat CUBN 8029 genome.wustl.edu 37 10 17153024 17153024 + Silent SNP G G A novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_001081.3 -1 reviewed p.C303 0.329 86 0% 105 39% 1 0% - - - HMMSmart_SM00179,HMMSmart_SM00181,HMMPfam_EGF_CA,superfamily_EGF/Laminin GPR158 57512 genome.wustl.edu 37 10 25839963 25839963 + Missense_Mutation SNP G G A novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_020752.2 +1 validated p.R488H 1.000 245 0% 224 35.7% 1 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_7tm_3 NRP1 8829 genome.wustl.edu 37 10 33491894 33491894 + Missense_Mutation SNP C C T novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_003873.5 -1 validated p.G597R 0.996 96 0% 132 43.2% 54 38.8% probably_damaging(0.998) deleterious(0.04) deleterious(0.823) NULL CUL2 8453 genome.wustl.edu 37 10 35300793 35300793 + Missense_Mutation SNP T T A novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_003591.2 -1 provisional p.N697Y 1.000 114 0% 130 37.7% 64 43.7% probably_damaging(0.998) deleterious(0) deleterious(0.919) "HMMPfam_Cullin_Nedd8,superfamily_""Winged helix"" DNA-binding domain" BMS1 9790 genome.wustl.edu 37 10 43316001 43316001 + Nonsense_Mutation SNP C C T novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_014753.3 +1 reviewed p.R939* 0.996 32 0% 27 37% 8 25% - - - HMMPfam_DUF663 GDF2 2658 genome.wustl.edu 37 10 48416492 48416492 + Missense_Mutation SNP G G A novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_016204.1 -1 reviewed p.R68C 1.000 26 0% 50 28% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TGFb_propeptide ANK3 288 genome.wustl.edu 37 10 61831383 61831383 + Missense_Mutation SNP C C T novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_020987.2 -1 reviewed p.G3086R 1.000 74 0% 71 40.8% 0 - probably_damaging(0.998) - - NULL COL13A1 1305 genome.wustl.edu 37 10 71654307 71654307 + Splice_Site SNP G G T novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_001130103.1 +1 reviewed e10-1 1.000 105 0% 140 43.6% 0 - - - - - PRF1 5551 genome.wustl.edu 37 10 72358323 72358323 + Missense_Mutation SNP C C T novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_001083116.1 -1 reviewed p.R385Q 0.084 6 0.000 11 0.545 4 0% benign(0.001) tolerated(0.58) neutral(0.005) NULL ADAMTS14 140766 genome.wustl.edu 37 10 72513635 72513635 + Missense_Mutation SNP C C A rs12774070 byCluster;byFrequency;by1000genomes TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_139155.2 +1 reviewed p.L940M 1.000 1 0.000 16 1.000 1 0% probably_damaging(0.954) tolerated(0.07) deleterious(0.717) HMMPfam_TSP_1,HMMSmart_TSP1,superfamily_TSP1 PTEN 5728 genome.wustl.edu 37 10 89692905 89692905 + Missense_Mutation SNP G G A rs121913292 TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 ENST00000371953 +1 known p.R130Q 1.000 155 0% 139 73.4% 31 87% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DSPc,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1,superfamily_(Phosphotyrosine protein) phosphatases II PCGF5 84333 genome.wustl.edu 37 10 92982723 92982723 + Missense_Mutation SNP C C T novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_032373.3 +1 provisional p.T32M 1.000 125 0% 138 34.8% 51 45% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00184,HMMPfam_zf-C3HC4,superfamily_RING/U-box ERLIN1 10613 genome.wustl.edu 37 10 101912096 101912096 + Missense_Mutation SNP G G A novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_001100626.1 -1 validated p.P280L 1.000 96 0% 90 31.1% 25 36% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL ATRNL1 26033 genome.wustl.edu 37 10 116930836 116930836 + Silent SNP T T C novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_207303.2 +1 validated p.D378 0.235 133 0% 125 43.2% 5 80% - - - superfamily_Galactose oxidase central domain,HMMPfam_Kelch_2 MUC5B 727897 genome.wustl.edu 37 11 1262540 1262540 + Missense_Mutation SNP C C T novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_002458.1 +1 validated p.T1480M 0.000 26 0% 49 44.9% 1 0% probably_damaging(0.985) - - NULL DNHD1 144132 genome.wustl.edu 37 11 6568714 6568714 + Missense_Mutation SNP C C T novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_144666.2 +1 provisional p.A2182V 0.998 24 0% 19 36.8% 4 50% benign(0.047) tolerated(0.9) neutral(0.003) NULL DCHS1 8642 genome.wustl.edu 37 11 6645097 6645097 + Nonsense_Mutation SNP G G A novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_003737.2 -1 reviewed p.R2604* 0.985 17 0% 36 38.9% 7 0% - - - superfamily_Cadherin OR2AG2 338755 genome.wustl.edu 37 11 6790159 6790159 + Silent SNP G G A novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_001004490.1 -1 provisional p.S10 0.079 101 0% 135 45.2% 0 - - - - superfamily_SSF81321 MRVI1 10335 genome.wustl.edu 37 11 10673658 10673658 + Missense_Mutation SNP A A G novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_001098579.1 -1 reviewed p.S38P 0.998 4 0.000 15 0.400 1 0% possibly_damaging(0.913) deleterious(0) deleterious(0.809) NULL SLC6A5 9152 genome.wustl.edu 37 11 20623176 20623176 + Missense_Mutation SNP G G A novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_004211.3 +1 reviewed p.V169M 1.000 10 0% 36 47.2% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL OR5F1 338674 genome.wustl.edu 37 11 55761496 55761496 + Missense_Mutation SNP C C G novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_003697.1 -1 provisional p.L202F 0.000 45 0% 35 40% 0 - benign(0) tolerated(1) - HMMPfam_7tm_1,superfamily_SSF81321 OR5T1 390155 genome.wustl.edu 37 11 56043716 56043716 + Missense_Mutation SNP G G T novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_001004745.1 +1 provisional p.C201F 0.411 301 0% 229 38.4% 0 - benign(0.03) deleterious(0) neutral(0.446) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like GPR137 56834 genome.wustl.edu 37 11 64055322 64055322 + Silent SNP C C T novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_020155.3 +1 validated p.S179 1.000 22 0% 39 48.7% 37 13.5% - - - NULL SPDYC 387778 genome.wustl.edu 37 11 64939753 64939753 + Missense_Mutation SNP G G A novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_001008778.1 +1 provisional p.A99T 0.821 22 0% 40 35% 1 100% probably_damaging(0.999) tolerated(0.05) deleterious(0.836) NULL ANKRD13D 338692 genome.wustl.edu 37 11 67068773 67068773 + Missense_Mutation SNP C C T novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_207354.2 +1 validated p.L331F 1.000 42 0% 97 35.1% 68 42.6% probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL CABP4 57010 genome.wustl.edu 37 11 67223186 67223186 + Nonsense_Mutation SNP C C T novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_145200.3 +1 reviewed p.R98* 1.000 5 0.000 6 0.833 0 - - - - superfamily_EF-hand NUDT8 254552 genome.wustl.edu 37 11 67396482 67396482 + Missense_Mutation SNP C C G novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_181843.1 -1 provisional p.V79L 1.000 10 0% 15 33.3% 13 53.8% benign(0.045) tolerated(0.19) neutral(0.052) HMMPfam_NUDIX,superfamily_NUDIX_hydrolase FAM168A 23201 genome.wustl.edu 37 11 73130955 73130955 + Missense_Mutation SNP C C T novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_015159.1 -1 predicted p.E81K 1.000 68 0% 106 37.7% 4 25% possibly_damaging(0.895) deleterious(0.01) deleterious(0.758) NULL FAT3 120114 genome.wustl.edu 37 11 92600253 92600253 + Missense_Mutation SNP G G A novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_001008781.2 +1 validated p.R4002H 1.000 4 0.000 11 0.455 0 - probably_damaging(1) tolerated(0.1) deleterious(0.786) superfamily_Concanavalin A-like lectins/glucanases EXPH5 23086 genome.wustl.edu 37 11 108384916 108384916 + Missense_Mutation SNP C C T novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_015065.2 -1 validated p.D440N 1.000 89 0% 93 33.3% 4 50% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL PAFAH1B2 5049 genome.wustl.edu 37 11 117038293 117038293 + Missense_Mutation SNP G G A novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_002572.3 +1 validated p.D190N 1.000 32 0% 62 30.6% 24 29.1% probably_damaging(1) tolerated(0.07) deleterious(0.819) HMMPfam_Lipase_GDSL,superfamily_SGNH hydrolase MFRP 83552 genome.wustl.edu 37 11 119212624 119212625 + Frame_Shift_Ins INS - - T novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_031433.2 -1 reviewed p.N486fs 1.000:1.000 - - - - - - - - - superfamily_Frizzled cysteine-rich domain,HMMPfam_Fz,HMMSmart_SM00063 MIR100 406892 genome.wustl.edu 37 11 122022973 122022973 + RNA SNP G G T novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 ENST00000385259 -1 known NULL 0.006 121 0% 161 31.1% 0 - - - - - CDON 50937 genome.wustl.edu 37 11 125875684 125875684 + Silent SNP G G A novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_016952.4 -1 validated p.P607 0.994 41 0% 58 37.9% 2 50% - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III WNT5B 81029 genome.wustl.edu 37 12 1755243 1755243 + Missense_Mutation SNP G G A novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_030775.2 +1 reviewed p.R302H 1.000 11 0% 26 26.9% 9 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_wnt,HMMSmart_SM00097 ATF7IP 55729 genome.wustl.edu 37 12 14650859 14650859 + Missense_Mutation SNP T T G novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_018179.3 +1 validated p.L1222R 1.000 67 0% 76 42.1% 30 33.3% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_fn3,superfamily_Fibronectin type III ST8SIA1 6489 genome.wustl.edu 37 12 22354788 22354788 + Missense_Mutation SNP G G A novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_003034.3 -1 reviewed p.R257C 1.000 42 0% 43 25.6% 1 0% probably_damaging(0.991) deleterious(0.05) deleterious(0.789) HMMPfam_Glyco_transf_29 KRAS 3845 genome.wustl.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C G rs121913529 byCluster TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_033360.2 -1 reviewed p.G12A 1.000 93 0% 143 46.9% 3 66.6% possibly_damaging(0.434) deleterious(0.03) deleterious(0.506) HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases ADAMTS20 80070 genome.wustl.edu 37 12 43944910 43944910 + Silent SNP G G A novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_025003.3 -1 validated p.Y85 1.000 21 0% 44 34.1% 0 - - - - HMMPfam_Pep_M12B_propep RAPGEF3 10411 genome.wustl.edu 37 12 48140501 48140501 + Missense_Mutation SNP C C T novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 ENST00000395358 -1 known p.G580R 0.000 13 0% 12 58.3% 1 100% unknown(0) - - NULL MCRS1 10445 genome.wustl.edu 37 12 49952700 49952700 + Missense_Mutation SNP G G A novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_001012300.1 -1 validated p.R423W 0.998 35 0% 46 41.3% 100 53% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_FHA,HMMSmart_FHA,superfamily_SMAD_FHA CSRNP2 81566 genome.wustl.edu 37 12 51461454 51461454 + Splice_Site SNP A A C novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_030809.1 -1 provisional e3+2 0.998 32 0% 62 33.9% 8 100% - - - - GPR84 53831 genome.wustl.edu 37 12 54757111 54757111 + Silent SNP G G A novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_020370.2 -1 validated p.G175 0.998 67 0% 74 36.5% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like GLS2 27165 genome.wustl.edu 37 12 56865411 56865411 + Silent SNP G G A novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_013267.2 -1 reviewed p.L557 1.000 73 0% 82 34.1% 1 100% - - - HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat MBD6 114785 genome.wustl.edu 37 12 57922970 57922970 + Missense_Mutation SNP C C T novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_052897.3 +1 validated p.R989C 1.000 31 0% 67 46.3% 60 50% unknown(0) - - NULL SRGAP1 57522 genome.wustl.edu 37 12 64536344 64536344 + Silent SNP G G A novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_020762.2 +1 validated p.L1050 1.000 68 0% 68 35.3% 0 - - - - NULL PTPRB 5787 genome.wustl.edu 37 12 70986277 70986277 + Missense_Mutation SNP G G A novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_001109754.1 -1 reviewed p.T522I 0.991 51 0% 45 26.7% 1 0% probably_damaging(0.96) tolerated(0.16) neutral(0.463) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III TPH2 121278 genome.wustl.edu 37 12 72388231 72388231 + Silent SNP T T C novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_173353.3 +1 reviewed p.H318 0.999 166 0% 164 36.6% 0 - - - - PatternScan_BIOPTERIN_HYDROXYL,HMMPfam_Biopterin_H,superfamily_Aaa_hydroxylase CLIP1 6249 genome.wustl.edu 37 12 122757587 122757587 + Silent SNP G G A novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_002956.2 -1 validated p.C1373 1.000 93 0% 165 39.4% 69 50.7% - - - NULL ULK1 8408 genome.wustl.edu 37 12 132392048 132392048 + Silent SNP C C T novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_003565.2 +1 validated p.N96 0.955 11 0% 33 30.3% 8 37.5% - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase EP400 57634 genome.wustl.edu 37 12 132547144 132547144 + Silent SNP G G A rs66689119 TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_015409.3 +1 validated p.Q2743 0.724 13 0% 37 40.5% 5 40% - - - NULL NBEA 26960 genome.wustl.edu 37 13 36223895 36223895 + Missense_Mutation SNP C C T novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_015678.4 +1 validated p.A2604V 1.000 90 0% 100 36% 2 50% possibly_damaging(0.521) deleterious(0) deleterious(0.620) superfamily_WD40 repeat-like RFXAP 5994 genome.wustl.edu 37 13 37394020 37394022 + In_Frame_Del DEL AAG AAG - novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 AAG AAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_000538.3 +1 reviewed p.K178in_frame_del 1.000:1.000:1.000 - - - - - - - - - NULL AKAP11 11215 genome.wustl.edu 37 13 42874613 42874613 + Silent SNP C C A novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_016248.2 +1 reviewed p.T577 1.000 65 0% 79 36.7% 1 100% - - - NULL ESD 2098 genome.wustl.edu 37 13 47365503 47365503 + Nonsense_Mutation SNP G G A novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_001984.1 -1 reviewed p.Q16* 1.000 117 0% 168 32.7% 70 30% - - - HMMPfam_Esterase,superfamily_SSF53474 RB1 5925 genome.wustl.edu 37 13 48916757 48916757 + Missense_Mutation SNP A A G novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_000321.2 +1 reviewed p.K96R 1.000 97 0% 118 37.3% 6 50% benign(0.134) deleterious(0.01) neutral(0.417) NULL MYCBP2 23077 genome.wustl.edu 37 13 77671636 77671636 + Missense_Mutation SNP C C T novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_015057.4 -1 validated p.R3180K 0.998 90 0% 117 35% 0 - possibly_damaging(0.794) tolerated(0.52) neutral(0.306) NULL CDC16 8881 genome.wustl.edu 37 13 115027421 115027424 + Splice_Site DEL TAAG TAAG - novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 TAAG TAAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_001078645.1 +1 reviewed e16-1 0.397:0.999:1.000:1.000 - - - - - - - - - - PSMB11 122706 genome.wustl.edu 37 14 23512254 23512254 + Missense_Mutation SNP G G A novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_001099780.1 +1 validated p.A274T 0.000 12 0% 33 42.4% 1 100% benign(0.014) tolerated(0.17) neutral(0.059) NULL LRRC16B 90668 genome.wustl.edu 37 14 24524345 24524345 + Missense_Mutation SNP G G T novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_138360.3 +1 validated p.W177C 1.000 101 0% 135 40% 0 - unknown(0) deleterious(0) - superfamily_RNI-like SNX6 58533 genome.wustl.edu 37 14 35036979 35036979 + Splice_Site SNP T T C novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_152233.2 -1 reviewed e13-2 1.000 200 0% 212 40.6% 0 - - - - - ESR2 2100 genome.wustl.edu 37 14 64723981 64723981 + Missense_Mutation SNP C C A novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_001437.2 -1 reviewed p.G352C 1.000 71 0% 101 37.6% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Hormone_recep,HMMSmart_SM00430,superfamily_Nuclear receptor ligand-binding domain RCOR1 23186 genome.wustl.edu 37 14 103187678 103187678 + Missense_Mutation SNP C C T novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_015156.2 +1 validated p.R382C 1.000 53 0% 80 46.3% 13 69.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SANT,superfamily_Homeodomain_like,HMMPfam_Myb_DNA-binding KIF26A 26153 genome.wustl.edu 37 14 104641543 104641543 + Silent SNP C C A novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_015656.1 +1 validated p.T806 0.022 7 0.000 14 0.429 0 - - - - NULL PACS2 23241 genome.wustl.edu 37 14 105847387 105847387 + Missense_Mutation SNP C C T novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_001100913.1 +1 validated p.P407S 0.980 4 0.000 21 0.429 23 17.3% probably_damaging(1) tolerated(0.65) deleterious(0.503) NULL IGHV1-2 28474 genome.wustl.edu 37 14 106452899 106452899 + Silent SNP G G A novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 ENST00000390594 -1 known p.C41 0.860 106 0% 129 37.2% 1 0% - - - HMMSmart_SM00406,HMMPfam_V-set,superfamily_Immunoglobulin FAN1 22909 genome.wustl.edu 37 15 31221496 31221496 + Missense_Mutation SNP G G A novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_014967.4 +1 reviewed p.E895K 0.000 24 0% 44 45.5% 8 12.5% benign(0.002) tolerated(0.09) neutral(0.296) HMMPfam_VRR_NUC PRTG 283659 genome.wustl.edu 37 15 55972270 55972270 + Missense_Mutation SNP C C T novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_173814.4 -1 validated p.A319T 1.000 43 0% 53 47.2% 0 - benign(0.35) deleterious(0.01) deleterious(0.517) superfamily_SSF48726 MYO9A 4649 genome.wustl.edu 37 15 72338513 72338513 + Missense_Mutation SNP C C T novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_006901.2 -1 validated p.R131H 1.000 86 0% 76 38.2% 0 - possibly_damaging(0.938) tolerated(0.07) deleterious(0.703) superfamily_P-loop containing nucleoside triphosphate hydrolases C15orf42 90381 genome.wustl.edu 37 15 90169017 90169017 + Missense_Mutation SNP G G T novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_152259.3 +1 validated p.G1826C 0.994 15 0% 15 26.7% 9 44.4% probably_damaging(0.998) tolerated(0.08) deleterious(0.774) NULL IDH2 3418 genome.wustl.edu 37 15 90630682 90630682 + Missense_Mutation SNP C C A novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_002168.2 -1 reviewed p.E268D 0.998 92 0% 130 41.5% 483 33.3% benign(0) tolerated(0.26) neutral(0.034) HMMPfam_Iso_dh,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like UNC45A 55898 genome.wustl.edu 37 15 91479661 91479661 + Missense_Mutation SNP C C T novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_018671.3 +1 validated p.R133W 1.000 46 0% 75 38.7% 18 55.5% probably_damaging(1) deleterious(0.02) deleterious(0.883) superfamily_TPR-like IGF1R 3480 genome.wustl.edu 37 15 99467107 99467107 + Nonsense_Mutation SNP G G T novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_000875.3 +1 reviewed p.G830* 1.000 57 0% 72 34.7% 3 33.3% - - - superfamily_FN_III-like RAB11FIP3 9727 genome.wustl.edu 37 16 553005 553005 + Missense_Mutation SNP T T A novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_014700.3 +1 validated p.Y435N 1.000 27 0% 57 49.1% 39 41% benign(0.01) tolerated(0.18) neutral(0.057) NULL RPS2 6187 genome.wustl.edu 37 16 2012222 2012222 + Silent SNP G G A novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_002952.3 -1 reviewed p.P253 0.939 67 1.5% 151 35.1% 3631 40.7% - - - HMMPfam_Ribosomal_S5_C,superfamily_Ribosomal protein S5 domain 2-like PKMYT1 9088 genome.wustl.edu 37 16 3024386 3024386 + Missense_Mutation SNP T T C novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_004203.3 -1 reviewed p.M338V 0.998 8 0.000 11 0.545 26 50% benign(0.004) tolerated(0.31) neutral(0.027) superfamily_Kinase_like,HMMPfam_Pkinase SLX4 84464 genome.wustl.edu 37 16 3647549 3647549 + Missense_Mutation SNP G G A novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_032444.2 -1 provisional p.A505V 0.000 50 0% 59 52.5% 1 0% possibly_damaging(0.61) deleterious(0.05) deleterious(0.557) NULL CREBBP 1387 genome.wustl.edu 37 16 3820640 3820640 + Silent SNP C C T novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_004380.2 -1 reviewed p.P937 0.224 18 0% 94 36.2% 3 0% - - - NULL CLEC16A 23274 genome.wustl.edu 37 16 11076761 11076761 + Silent SNP G G A rs192627479 by1000genomes TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_015226.2 +1 validated p.P328 0.627 260 0% 263 41.4% 8 37.5% - - - NULL ZNF646 9726 genome.wustl.edu 37 16 31090567 31090567 + Silent SNP G G A novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_014699.3 +1 validated p.E974 0.992 19 0% 20 35% 8 0% - - - HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers CHD9 80205 genome.wustl.edu 37 16 53272404 53272404 + Missense_Mutation SNP G G A rs181647712 by1000genomes TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_025134.4 +1 validated p.R928H 1.000 198 0% 213 47.9% 0 - possibly_damaging(0.579) deleterious(0.02) deleterious(0.582) HMMPfam_SNF2_N,HMMSmart_DEXDc,superfamily_SSF52540 CBFB 865 genome.wustl.edu 37 16 67070625 67070625 + Silent SNP A A T novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_022845.2 +1 reviewed p.R83 0.988 94 0% 114 36% 28 57.1% - - - HMMPfam_CBF_beta,superfamily_CBF_beta ZFHX3 463 genome.wustl.edu 37 16 72831069 72831069 + Nonsense_Mutation SNP G G A novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_006885.3 -1 reviewed p.Q1838* 1.000 42 0% 68 50% 3 33.3% - - - NULL RFWD3 55159 genome.wustl.edu 37 16 74683060 74683060 + Silent SNP A A G novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_018124.3 -1 validated p.C254 0.002 54 0% 73 46.6% 5 20% - - - NULL SLC43A2 124935 genome.wustl.edu 37 17 1494633 1494633 + Silent SNP C C T novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_152346.1 -1 provisional p.A287 0.001 10 0% 22 45.5% 23 43.4% - - - HMMPfam_MFS_1,superfamily_MFS general substrate transporter LOC100288674 100288674 genome.wustl.edu 37 17 2601426 2601426 + Missense_Mutation SNP G G A novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 XM_002343499.1 +1 model p.V296I 0.015 10 0% 38 42.1% 20 45% - - - NULL ZZEF1 23140 genome.wustl.edu 37 17 3981220 3981220 + Silent SNP C C T novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_015113.3 -1 validated p.T982 0.000 30 0% 49 30.6% 2 0% - - - NULL FBXO39 162517 genome.wustl.edu 37 17 6683921 6683921 + Missense_Mutation SNP G G A novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_153230.2 +1 validated p.C245Y 0.686 35 0% 48 35.4% 0 - benign(0.293) deleterious(0.02) deleterious(0.474) superfamily_SSF52047 SLC35G6 643664 genome.wustl.edu 37 17 7385733 7385733 + Missense_Mutation SNP G G A rs71360886 TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_001102614.1 +1 provisional p.V144I 0.406 65 1.5% 106 28.3% 0 - benign(0) tolerated(1) - superfamily_SSF103481 NTN1 9423 genome.wustl.edu 37 17 9143107 9143107 + Missense_Mutation SNP G G A novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_004822.2 +1 reviewed p.C546Y 1.000 4 0.000 20 0.250 7 42.8% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_TIMP_like,HMMPfam_NTR,HMMSmart_C345C RAI1 10743 genome.wustl.edu 37 17 17699775 17699775 + Silent SNP C C T novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_030665.3 +1 reviewed p.C1171 0.992 8 0.000 22 0.318 6 66.6% - - - NULL MYO15A 51168 genome.wustl.edu 37 17 18082109 18082109 + Missense_Mutation SNP C C T novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 ENST00000359910 +1 known p.R539C 0.902 55 0% 164 15.2% 0 - - - - NULL LOC645139 645139 genome.wustl.edu 37 17 18553810 18553810 + Missense_Mutation SNP C C T novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 XM_928169.3 +1 model p.A141V 0.026 102 0% 108 30.6% 0 - - - - HMMPfam_PAM2 MAP2K3 5606 genome.wustl.edu 37 17 21207794 21207794 + Missense_Mutation SNP T T G novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_145109.2 +1 reviewed p.F209V 1.000 154 0% 257 16% 56 41% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase SEZ6 124925 genome.wustl.edu 37 17 27290983 27290983 + Missense_Mutation SNP T T C novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_178860.4 -1 validated p.I413V 0.993 25 0% 51 45.1% 0 - benign(0.002) tolerated(1) - superfamily_Complement control module/SCR domain LRRC37B 114659 genome.wustl.edu 37 17 30348907 30348907 + Missense_Mutation SNP C C T novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_052888.2 +1 validated p.P248S 0.001 38 0% 21 61.9% 4 75% possibly_damaging(0.456) tolerated(0.08) neutral(0.450) NULL CCL16 6360 genome.wustl.edu 37 17 34304625 34304625 + Missense_Mutation SNP G G A novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_004590.2 -1 reviewed p.P114S 0.000 187 0% 244 38.5% 0 - probably_damaging(0.974) deleterious(0) deleterious(0.861) superfamily_Chemokine_IL8 ORMDL3 94103 genome.wustl.edu 37 17 38080439 38080439 + Silent SNP C C T novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_139280.1 -1 provisional p.A6 0.002 26 0% 68 45.6% 43 30.2% - - - NULL KRT33B 3884 genome.wustl.edu 37 17 39521751 39521751 + Missense_Mutation SNP C C T rs143499346 by1000genomes TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_002279.3 -1 reviewed p.A215T 0.998 77 0% 117 38.5% 0 - benign(0.006) tolerated(0.1) neutral(0.286) HMMPfam_Filament PSMC3IP 29893 genome.wustl.edu 37 17 40726182 40726182 + Missense_Mutation SNP C C T novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_016556.2 -1 validated p.G91D 0.998 32 0% 52 38.5% 15 53.3% benign(0) tolerated(0.67) neutral(0.003) HMMPfam_TBPIP MAPT 4137 genome.wustl.edu 37 17 44101427 44101427 + Missense_Mutation SNP C C T rs63750424 byCluster TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_001123066.3 +1 validated p.R741W 0.998 24 0% 26 34.6% 2 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL WNT3 7473 genome.wustl.edu 37 17 44845833 44845833 + Silent SNP G G A novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_030753.3 -1 reviewed p.I307 0.077 31 0% 53 11.3% 1 0% - - - HMMPfam_wnt,HMMSmart_WNT1 OSBPL7 114881 genome.wustl.edu 37 17 45893819 45893819 + Missense_Mutation SNP C C T rs191850189 by1000genomes TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_145798.2 -1 reviewed p.A320T 0.993 39 0% 58 37.9% 2 0% benign(0.009) tolerated(1) neutral(0.001) NULL CACNA1G 8913 genome.wustl.edu 37 17 48681531 48681531 + Silent SNP G G A novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_018896.3 +1 validated p.A1395 0.995 68 0% 163 41.7% 0 - - - - HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels NME1-NME2 654364 genome.wustl.edu 37 17 49247315 49247315 + Silent SNP C C T novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_001018136.1 +1 validated p.N197 0.998 72 0% 135 11.1% 1750 7.5% - - - HMMPfam_NDK,HMMSmart_NDK,superfamily_NDK BRIP1 83990 genome.wustl.edu 37 17 59821816 59821816 + Missense_Mutation SNP G G A novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_032043.1 -1 reviewed p.A745V 1.000 289 0% 294 30.6% 1 0% probably_damaging(1) tolerated(0.1) deleterious(0.786) HMMSmart_SM00491 AXIN2 8313 genome.wustl.edu 37 17 63530162 63530162 + Missense_Mutation SNP G G A novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_004655.3 -1 reviewed p.A758V 0.009 51 0% 59 39% 6 50% benign(0.051) deleterious(0.04) neutral(0.352) NULL UNC13D 201294 genome.wustl.edu 37 17 73829050 73829050 + Missense_Mutation SNP C C T novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_199242.2 -1 reviewed p.S815N 1.000 15 0% 39 25.6% 6 50% benign(0) tolerated(1) - HMMPfam_Membr_traf_MHD CCDC40 55036 genome.wustl.edu 37 17 78013916 78013916 + Silent SNP C C T novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_017950.2 +1 validated p.S133 0.000 21 0% 28 42.9% 7 85.7% - - - NULL ARHGDIA 396 genome.wustl.edu 37 17 79826890 79826890 + Silent SNP C C G novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_004309.4 -1 validated p.L159 1.000 14 0% 36 25% 425 34.1% - - - HMMPfam_Rho_GDI,superfamily_E set domains ANKRD12 23253 genome.wustl.edu 37 18 9208794 9208794 + Silent SNP C C T novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_015208.3 +1 validated p.N148 1.000 89 0% 118 10.2% 0 - - - - superfamily_Ankyrin repeat MYO5B 4645 genome.wustl.edu 37 18 47511145 47511145 + Missense_Mutation SNP C C T novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_001080467.2 -1 reviewed p.E297K 1.000 96 0% 124 37.1% 4 25% benign(0.006) tolerated(0.18) neutral(0.056) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases STARD6 147323 genome.wustl.edu 37 18 51858145 51858145 + Missense_Mutation SNP T T C novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_139171.1 -1 provisional p.K118E 0.991 92 0% 124 32.3% 0 - probably_damaging(0.998) tolerated(0.12) deleterious(0.735) HMMPfam_START,HMMSmart_START,superfamily_SSF55961 ATP8B1 5205 genome.wustl.edu 37 18 55315860 55315860 + Missense_Mutation SNP G G A novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_005603.4 -1 reviewed p.R1206C 1.000 7 0.000 13 0.462 27 14.8% probably_damaging(0.973) deleterious(0) deleterious(0.859) NULL SBNO2 22904 genome.wustl.edu 37 19 1111540 1111540 + Missense_Mutation SNP T T G novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_014963.2 -1 validated p.Q925P 0.569 15 0% 43 41.9% 50 44% possibly_damaging(0.538) tolerated(0.4) neutral(0.198) NULL C19orf26 255057 genome.wustl.edu 37 19 1235500 1235501 + Frame_Shift_Ins INS - - T novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_152769.2 -1 validated p.D97fs 1.000:1.000 - - - - - - - - - NULL GAMT 2593 genome.wustl.edu 37 19 1399536 1399536 + Silent SNP G G A novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_138924.1 -1 reviewed p.D126 0.079 28 0% 61 39.3% 29 24.1% - - - superfamily_SSF53335 PTPRS 5802 genome.wustl.edu 37 19 5243987 5243987 + Missense_Mutation SNP C C T novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_002850.3 -1 reviewed p.V499M 0.997 8 0.000 32 0.281 18 50% possibly_damaging(0.908) deleterious(0.01) deleterious(0.767) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III OR1M1 125963 genome.wustl.edu 37 19 9204457 9204457 + Silent SNP C C T novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_001004456.1 +1 provisional p.C179 0.998 35 0% 44 45.5% 1 0% - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like ZNF317 57693 genome.wustl.edu 37 19 9270942 9270942 + Silent SNP G G A rs145788166 by1000genomes TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_020933.3 +1 provisional p.P207 0.000 40 0% 43 32.6% 13 30.7% - - - superfamily_C2H2 and C2HC zinc fingers ZNF563 147837 genome.wustl.edu 37 19 12430075 12430075 + Missense_Mutation SNP C C T novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_145276.2 -1 validated p.C255Y 0.224 144 0% 171 31% 3 66.6% probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers SUGP2 10147 genome.wustl.edu 37 19 19130026 19130026 + Missense_Mutation SNP C C T rs186157014 by1000genomes TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_001017392.3 -1 reviewed p.R581Q 1.000 48 0% 79 25.3% 18 27.7% probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_Surp module (SWAP domain Pfam 01805) ZNF536 9745 genome.wustl.edu 37 19 30936439 30936439 + Missense_Mutation SNP G G T novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_014717.1 +1 provisional p.R657L 1.000 16 0% 32 43.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF57667 HKR1 284459 genome.wustl.edu 37 19 37854109 37854109 + Missense_Mutation SNP G G A novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_181786.2 +1 provisional p.C471Y 0.565 62 0% 98 42.9% 25 60% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers CATSPERG 57828 genome.wustl.edu 37 19 38857898 38857898 + Missense_Mutation SNP T T G novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_021185.4 +1 validated p.Y906D 0.689 69 0% 95 43.2% 3 66.6% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL ITPKC 80271 genome.wustl.edu 37 19 41245294 41245294 + Silent SNP C C T novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_025194.2 +1 reviewed p.D627 1.000 10 0% 15 40% 16 37.5% - - - HMMPfam_IPK,superfamily_SSF56104 CYP2F1 1572 genome.wustl.edu 37 19 41631419 41631419 + Missense_Mutation SNP C C A novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_000774.3 +1 reviewed p.L392I 0.171 229 0% 333 16.2% 0 - possibly_damaging(0.932) tolerated(0.07) deleterious(0.698) HMMPfam_p450,superfamily_Cytochrome P450 CIC 23152 genome.wustl.edu 37 19 42794635 42794635 + Missense_Mutation SNP G G A novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_015125.3 +1 validated p.R572Q 0.988 19 0% 33 51.5% 20 40% possibly_damaging(0.772) deleterious(0) deleterious(0.732) NULL PPP1R13L 10848 genome.wustl.edu 37 19 45900258 45900258 + Missense_Mutation SNP C C T novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_001142502.1 -1 validated p.R86Q 0.999 4 0.000 21 0.476 16 68.7% benign(0.297) tolerated(0.45) neutral(0.104) NULL LRRC4B 94030 genome.wustl.edu 37 19 51022292 51022292 + Silent SNP C C T novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_001080457.1 -1 provisional p.T226 0.983 20 0% 45 37.8% 5 0% - - - HMMPfam_LRR_1,superfamily_SSF52058 ZNF808 388558 genome.wustl.edu 37 19 53058551 53058551 + Silent SNP G G A novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_001039886.3 +1 validated p.T794 0.000 124 0.8% 152 40.1% 1 0% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF548 147694 genome.wustl.edu 37 19 57909924 57909924 + Missense_Mutation SNP G G A novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_152909.3 +1 validated p.G90D 0.000 83 0% 90 41.1% 3 66.6% probably_damaging(0.967) tolerated(0.19) neutral(0.458) NULL C20orf141 128653 genome.wustl.edu 37 20 2796272 2796272 + Missense_Mutation SNP C C A novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_080739.2 +1 validated p.L117I 0.000 17 0% 38 36.8% 0 - benign(0.14) tolerated(0.42) neutral(0.026) NULL RASSF2 9770 genome.wustl.edu 37 20 4773237 4773237 + Missense_Mutation SNP C C A novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_014737.2 -1 reviewed p.Q108H 1.000 62 0% 113 41.6% 0 - benign(0.206) tolerated(0.24) neutral(0.057) NULL C20orf26 26074 genome.wustl.edu 37 20 20150031 20150031 + Missense_Mutation SNP G G A novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_015585.3 +1 validated p.V438M 0.991 140 0% 160 28.7% 1 0% probably_damaging(0.99) deleterious(0.01) deleterious(0.847) NULL TTI1 9675 genome.wustl.edu 37 20 36612029 36612029 + Silent SNP G G A novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_014657.1 -1 predicted p.H1033 0.991 18 0% 29 44.8% 43 51.1% - - - superfamily_ARM-type_fold TGM2 7052 genome.wustl.edu 37 20 36776425 36776425 + Missense_Mutation SNP C C T novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_004613.2 -1 reviewed p.A207T 0.000 21 4.8% 23 47.8% 31 16.1% benign(0.231) deleterious(0.02) neutral(0.406) superfamily_Cysteine proteinases RTEL1 51750 genome.wustl.edu 37 20 62320997 62320997 + Missense_Mutation SNP G G A novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_032957.3 +1 reviewed p.G674D 0.001 6 0.000 22 0.455 7 71.4% probably_damaging(0.986) tolerated(0.63) neutral(0.438) HMMSmart_HELICc2 URB1 9875 genome.wustl.edu 37 21 33720038 33720038 + Missense_Mutation SNP G G A novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_014825.2 -1 validated p.P1032L 1.000 7 0.000 9 0.556 3 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) NULL SON 6651 genome.wustl.edu 37 21 34925673 34925673 + Nonsense_Mutation SNP C C T novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 ENST00000436227 +1 known p.R374* 0.002 45 0% 96 37.5% 27 40.7% benign(0.202) tolerated(0.11) neutral(0.291) NULL RNF185 91445 genome.wustl.edu 37 22 31601284 31601284 + RNA SNP G G T novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NR_024209.1 +1 validated NULL 0.000 65 0% 52 44.2% 10 60% - - - - RBFOX2 23543 genome.wustl.edu 37 22 36164315 36164315 + Missense_Mutation SNP G G A novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_001082578.1 -1 reviewed p.R249C 1.000 72 0% 125 36% 19 52.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RRM_1,HMMSmart_RRM,superfamily_SSF54928 IL2RB 3560 genome.wustl.edu 37 22 37531452 37531452 + Missense_Mutation SNP C C T novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_000878.2 -1 reviewed p.G245D 0.000 37 0% 38 28.9% 1 0% benign(0.051) tolerated(0.3) neutral(0.032) NULL BAIAP2L2 80115 genome.wustl.edu 37 22 38483155 38483156 + In_Frame_Ins INS - - TCATGGGTG novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_025045.4 -1 validated p.412in_frame_insTPM 0.001:0.006 - - - - - - - - - superfamily_SH3-domain MPPED1 758 genome.wustl.edu 37 22 43870813 43870813 + Missense_Mutation SNP C C T novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_001044370.1 +1 validated p.R202W 0.999 42 0% 49 26.5% 0 - benign(0.013) tolerated(0.21) neutral(0.044) HMMPfam_Metallophos,superfamily_Metallo-dependent phosphatases BRD1 23774 genome.wustl.edu 37 22 50217488 50217488 + Missense_Mutation SNP C C T novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_014577.1 -1 reviewed p.E160K 1.000 35 0% 25 76% 8 37.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_EPL1 FRMPD4 9758 genome.wustl.edu 37 X 12516883 12516883 + Silent SNP G G A novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_014728.3 +1 reviewed p.T42 1.000 41 0% 55 14.5% 0 - - - - NULL PPEF1 5475 genome.wustl.edu 37 X 18807278 18807278 + Missense_Mutation SNP G G C novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_006240.2 +1 reviewed p.D318H 0.000 108 0% 124 34.7% 0 - benign(0) tolerated(0.17) neutral(0.059) HMMPfam_Metallophos,HMMSmart_SM00156,superfamily_Metallo-dependent phosphatases PTCHD1 139411 genome.wustl.edu 37 X 23397939 23397939 + Missense_Mutation SNP G G A novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_173495.2 +1 validated p.V195I 0.998 59 0% 43 37.2% 0 - probably_damaging(0.994) deleterious(0.04) deleterious(0.801) HMMPfam_Patched DMD 1756 genome.wustl.edu 37 X 31697652 31697652 + Missense_Mutation SNP C C T novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_004006.2 -1 reviewed p.R2571Q 1.000 317 0% 371 34% 3 66.6% probably_damaging(1) tolerated(0.07) deleterious(0.819) HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat FAM47A 158724 genome.wustl.edu 37 X 34149095 34149096 + Frame_Shift_Ins INS - - A novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_203408.3 -1 validated p.S434fs 0.006:0.005 - - - - - - - - - NULL RPGR 6103 genome.wustl.edu 37 X 38129023 38129023 + Silent SNP C C T novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_000328.2 -1 reviewed p.P768 0.009 262 0% 246 36.6% 31 0% - - - NULL SSX3 10214 genome.wustl.edu 37 X 48213484 48213484 + Missense_Mutation SNP G G A novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_021014.2 -1 reviewed p.T77I 0.000 371 0% 424 33.3% 0 - benign(0.368) tolerated(0.24) neutral(0.154) HMMSmart_KRAB,superfamily_Krueppel-associated_box SUV39H1 6839 genome.wustl.edu 37 X 48557342 48557342 + Silent SNP C C T novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_003173.2 +1 reviewed p.C23 1.000 55 0% 121 44.6% 4 100% - - - NULL HDAC6 10013 genome.wustl.edu 37 X 48676794 48676794 + Missense_Mutation SNP G G A novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_006044.2 +1 reviewed p.R721H 0.809 23 0% 29 34.5% 19 89.4% benign(0.128) tolerated(0.31) neutral(0.037) HMMPfam_Hist_deacetyl,superfamily_SSF52768 ITIH6 347365 genome.wustl.edu 37 X 54784113 54784114 + Frame_Shift_Del DEL TG TG - novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 TG TG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_198510.2 -1 reviewed p.T798fs 0.000:0.000 - - - - - - - - - NULL PCDH11X 27328 genome.wustl.edu 37 X 91132425 91132425 + Missense_Mutation SNP G G A novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_032968.3 +1 reviewed p.V396M 1.000 184 0% 162 38.9% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like GPRASP1 9737 genome.wustl.edu 37 X 101909836 101909836 + Missense_Mutation SNP G G A novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_001099410.1 +1 reviewed p.R332K 0.993 45 0% 38 44.7% 3 0% benign(0.213) tolerated(0.27) neutral(0.055) NULL MUM1L1 139221 genome.wustl.edu 37 X 105450493 105450493 + Missense_Mutation SNP C C A novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 ENST00000337685 +1 known p.D356E 0.000 48 0% 39 43.6% 0 - benign(0.246) tolerated(1) neutral(0.025) NULL MORC4 79710 genome.wustl.edu 37 X 106185268 106185268 + Nonsense_Mutation SNP G G A novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_024657.4 -1 reviewed p.Q854* 0.993 368 0% 340 31.8% 38 0% - - - NULL ALG13 79868 genome.wustl.edu 37 X 110928195 110928195 + Missense_Mutation SNP G G A novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_018466.4 +1 reviewed p.A83T 1.000 128 0% 123 36.6% 23 100% probably_damaging(0.99) deleterious(0.01) deleterious(0.847) HMMPfam_Glyco_tran_28_C,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase KLHL13 90293 genome.wustl.edu 37 X 117033093 117033093 + Silent SNP G G A novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_033495.3 -1 reviewed p.V582 0.459 284 0% 270 36.7% 8 0% - - - HMMPfam_Kelch_1,HMMSmart_SM00612,superfamily_Galactose oxidase central domain SLC25A5 292 genome.wustl.edu 37 X 118603727 118603727 + Missense_Mutation SNP G G A novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_001152.4 +1 reviewed p.R72H 1.000 124 0% 137 32.8% 196 91.8% possibly_damaging(0.845) deleterious(0) deleterious(0.768) superfamily_Mitochondrial carrier,HMMPfam_Mito_carr DCAF12L2 340578 genome.wustl.edu 37 X 125298905 125298905 + Missense_Mutation SNP G G A novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_001013628.2 -1 reviewed p.R335C 0.938 10 0% 10 60% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_WD40_like ACTRT1 139741 genome.wustl.edu 37 X 127185676 127185676 + Missense_Mutation SNP C C A novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_138289.3 -1 reviewed p.E170D 0.994 81 0% 86 31.4% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Actin,HMMSmart_ACTIN,superfamily_SSF53067 GPR112 139378 genome.wustl.edu 37 X 135429185 135429185 + Missense_Mutation SNP C C T novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_153834.3 +1 reviewed p.T1107I 0.069 78 0% 53 26.4% 0 - possibly_damaging(0.811) deleterious(0.01) deleterious(0.711) NULL MAGEC3 139081 genome.wustl.edu 37 X 140983288 140983288 + Frame_Shift_Del DEL C C - novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_138702.1 +1 reviewed p.Q356fs 0.007 - - - - - - - - - NULL PDZD4 57595 genome.wustl.edu 37 X 153069915 153069915 + Missense_Mutation SNP C C T novel TCGA-BG-A0VZ-01A-11D-A10G-09 TCGA-BG-A0VZ-10A-02D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 74e72344-e693-4757-a05b-dadad40b1e64 914c4b1c-efa2-4782-8fd3-3b71a39d4f95 NM_032512.2 -1 provisional p.M401I 1.000 8 0.000 17 0.353 0 - benign(0.016) tolerated(0.08) neutral(0.300) NULL