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 ATAD3C 219293 genome.wustl.edu 37 1 1396238 1396238 + Silent SNP G G A rs72896283 byCluster;by1000genomes TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_001039211.2 +1 validated p.A307 1.000 135 0% 221 37.6% 8 75% - - - HMMPfam_AAA,superfamily_SSF52540 GABRD 2563 genome.wustl.edu 37 1 1957151 1957151 + Silent SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_000815.4 +1 reviewed p.P148 0.075 30 0% 48 12.5% 5 0% - - - HMMPfam_Neur_chan_LBD,superfamily_Neur_chan_LBD RER1 11079 genome.wustl.edu 37 1 2328608 2328608 + Silent SNP C C A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_007033.4 +1 reviewed p.V45 0.217 233 0% 392 28.1% 105 26.6% - - - HMMPfam_Rer1 PRDM16 63976 genome.wustl.edu 37 1 3301801 3301801 + Missense_Mutation SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_022114.3 +1 reviewed p.A175V 0.965 133 0.8% 202 43.6% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMSmart_SM00317,superfamily_SET domain CEP104 9731 genome.wustl.edu 37 1 3742423 3742423 + Missense_Mutation SNP T T C novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_014704.3 -1 validated p.I755V 0.993 103 0% 167 13.8% 14 28.5% probably_damaging(0.998) tolerated(0.42) deleterious(0.488) NULL MASP2 10747 genome.wustl.edu 37 1 11107015 11107015 + Missense_Mutation SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_006610.2 -1 reviewed p.R56H 1.000 44 0% 71 38% 0 - possibly_damaging(0.648) tolerated(0.1) deleterious(0.514) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain C1orf187 374946 genome.wustl.edu 37 1 11766675 11766675 + Silent SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_198545.3 +1 validated p.P120 0.000 56 0% 65 47.7% 0 - - - - NULL MFN2 9927 genome.wustl.edu 37 1 12069708 12069708 + Missense_Mutation SNP T T C novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_001127660.1 +1 reviewed p.L710P 1.000 144 0% 269 41.6% 14 42.8% probably_damaging(0.964) deleterious(0) deleterious(0.851) HMMPfam_Fzo_mitofusin MST1P9 11223 genome.wustl.edu 37 1 17086144 17086144 + RNA SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NR_002729.2 -1 validated NULL 0.999 67 0% 129 10.9% 3 0% - - - - AKR7A2 8574 genome.wustl.edu 37 1 19635077 19635077 + Silent SNP G G T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_003689.2 -1 validated p.R120 1.000 133 0% 175 46.9% 40 55% - - - HMMPfam_Aldo_ket_red,superfamily_Aldo/ket_red HMGCL 3155 genome.wustl.edu 37 1 24130960 24130960 + Missense_Mutation SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_000191.2 -1 reviewed p.A269V 1.000 73 0% 75 44% 61 36% probably_damaging(0.995) deleterious(0) deleterious(0.902) HMMPfam_HMGL-like,superfamily_Aldolase PPP1R8 5511 genome.wustl.edu 37 1 28165359 28165359 + Missense_Mutation SNP C C G novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_014110.3 +1 reviewed p.N89K 1.000 101 0% 164 11% 33 12.1% benign(0.185) tolerated(0.14) neutral(0.267) HMMPfam_FHA,HMMSmart_SM00240,superfamily_SMAD/FHA domain LOC100286999 100286999 genome.wustl.edu 37 1 32826960 32826960 + Missense_Mutation SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 XM_002342071.1 +1 model p.A11V 1.000 8 0.000 19 0.526 11 63.6% - - - NULL SYNC 81493 genome.wustl.edu 37 1 33161311 33161311 + Missense_Mutation SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_030786.2 -1 reviewed p.P130S 0.001 126 0% 190 40.5% 2 100% benign(0.005) tolerated(0.61) neutral(0.004) NULL MTF1 4520 genome.wustl.edu 37 1 38305682 38305682 + Missense_Mutation SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_005955.2 -1 reviewed p.S186N 1.000 206 0.5% 75 49.3% 2 50% probably_damaging(0.999) tolerated(0.06) deleterious(0.813) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers COL9A2 1298 genome.wustl.edu 37 1 40770484 40770484 + Silent SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_001852.3 -1 reviewed p.Q381 0.038 55 0% 93 47.3% 68 44.1% - - - NULL ELOVL1 64834 genome.wustl.edu 37 1 43831042 43831042 + Missense_Mutation SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_022821.2 -1 validated p.R18W 1.000 38 0% 104 46.2% 61 45.9% probably_damaging(1) deleterious(0) deleterious(0.945) NULL HECTD3 79654 genome.wustl.edu 37 1 45471548 45471548 + Missense_Mutation SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_024602.5 -1 validated p.A618V 1.000 81 0% 99 14.1% 18 5.5% benign(0.382) tolerated(0.51) neutral(0.131) HMMPfam_HECT,HMMSmart_SM00119,superfamily_Hect E3 ligase catalytic domain POMGNT1 55624 genome.wustl.edu 37 1 46657884 46657884 + Missense_Mutation SNP C C A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_017739.3 -1 reviewed p.W475C 1.000 78 0% 102 49% 54 40.7% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_GNT-I,superfamily_Nucleotide-diphospho-sugar transferases DIO1 1733 genome.wustl.edu 37 1 54360128 54360128 + Missense_Mutation SNP T T C novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_001039715.1 +1 reviewed p.L82P 1.000 75 0% 78 32.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_T4_deiodinase SSBP3 23648 genome.wustl.edu 37 1 54707867 54707867 + Silent SNP T T C novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 ENST00000426150 -1 known p.D150G 1.000 110 0% 168 48.2% 74 50% - - - HMMPfam_SSDP DOCK7 85440 genome.wustl.edu 37 1 62940939 62940939 + Silent SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 ENST00000454575 -1 known p.R1178C 0.329 302 0% 287 48.4% 22 40.9% - - - HMMPfam_Ded_cyto IL12RB2 3595 genome.wustl.edu 37 1 67816654 67816654 + Silent SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_001559.2 +1 reviewed p.H380 0.031 104 0% 46 23.9% 0 - - - - superfamily_Fibronectin type III CDC7 8317 genome.wustl.edu 37 1 91985774 91985774 + Missense_Mutation SNP C C A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_001134419.1 +1 reviewed p.A423D 1.000 214 0% 133 16.5% 4 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase LPPR4 9890 genome.wustl.edu 37 1 99772445 99772445 + Missense_Mutation SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_014839.4 +1 reviewed p.R724H 1.000 57 0% 33 24.2% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL GPSM2 29899 genome.wustl.edu 37 1 109466787 109466787 + Missense_Mutation SNP A A T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_013296.4 +1 validated p.D589V 1.000 114 0% 79 21.5% 14 14.2% possibly_damaging(0.864) tolerated(0.06) deleterious(0.657) NULL HFE2 148738 genome.wustl.edu 37 1 145415616 145415616 + Silent SNP G G T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_213653.3 +1 reviewed p.P145 0.902 32 0% 73 17.8% 1 0% - - - HMMPfam_RGM_N CERS2 29956 genome.wustl.edu 37 1 150939576 150939576 + Missense_Mutation SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_022075.3 -1 reviewed p.H239Y 1.000 79 0% 152 13.2% 106 12.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TRAM_LAG1_CLN8,HMMSmart_SM00724 FLG 2312 genome.wustl.edu 37 1 152281866 152281866 + Silent SNP C C T rs187802033 by1000genomes TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_002016.1 -1 reviewed p.S1832 0.000 369 0% 498 31.9% 0 - - - - NULL GATAD2B 57459 genome.wustl.edu 37 1 153789021 153789021 + Missense_Mutation SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_020699.2 -1 validated p.A315V 1.000 150 0% 129 25.6% 7 28.5% benign(0.001) tolerated(0.15) neutral(0.241) NULL CREB3L4 148327 genome.wustl.edu 37 1 153945473 153945473 + Missense_Mutation SNP T T C novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_130898.2 +1 provisional p.V221A 1.000 111 0.9% 256 32% 141 29% possibly_damaging(0.536) deleterious(0) deleterious(0.625) HMMSmart_BRLZ,superfamily_Euk_transcr_DNA,HMMPfam_bZIP_1 PYGO2 90780 genome.wustl.edu 37 1 154931506 154931506 + Missense_Mutation SNP G G T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_138300.3 -1 validated p.P324T 0.997 35 0% 63 12.7% 18 38.8% probably_damaging(0.959) deleterious(0.03) deleterious(0.767) superfamily_FYVE/PHD zinc finger RUSC1 23623 genome.wustl.edu 37 1 155291621 155291621 + Silent SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_001105203.1 +1 validated p.H19 0.996 108 0% 295 26.4% 0 - - - - NULL YY1AP1 55249 genome.wustl.edu 37 1 155631025 155631025 + Missense_Mutation SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 ENST00000405763 -1 known p.P495S 0.000 123 0% 134 29.1% 3 0% benign(0.003) - - NULL MPZL1 9019 genome.wustl.edu 37 1 167691443 167691443 + Missense_Mutation SNP T T C novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_003953.5 +1 validated p.W19R 0.911 14 0% 42 21.4% 11 18.1% possibly_damaging(0.528) tolerated(0.22) neutral(0.220) NULL TBX19 9095 genome.wustl.edu 37 1 168262463 168262463 + Missense_Mutation SNP T T A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_005149.2 +1 reviewed p.C184S 1.000 117 0% 232 30.6% 3 66.6% benign(0.386) tolerated(0.22) neutral(0.166) HMMPfam_T-box,HMMSmart_TBOX,superfamily_P53_like_DNA_bnd PAPPA2 60676 genome.wustl.edu 37 1 176668612 176668612 + Silent SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_020318.2 +1 validated p.H1041 0.000 71 0% 50 32% 0 - - - - NULL CACNA1E 777 genome.wustl.edu 37 1 181721358 181721358 + Missense_Mutation SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_000721.2 +1 reviewed p.R1271C 1.000 134 0% 152 31.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels CACNA1E 777 genome.wustl.edu 37 1 181767562 181767562 + Silent SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_000721.2 +1 reviewed p.H2135 0.000 76 0% 150 21.3% 0 - - - - NULL LAMC2 3918 genome.wustl.edu 37 1 183207485 183207485 + Missense_Mutation SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_005562.2 +1 reviewed p.R933K 1.000 191 0% 126 31.7% 14 14.2% benign(0.019) tolerated(0.88) neutral(0.001) NULL PLA2G4A 5321 genome.wustl.edu 37 1 186839635 186839635 + Silent SNP C C A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_024420.2 +1 reviewed p.A34 0.998 105 0% 139 24.5% 3 0% - - - HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) ASPM 259266 genome.wustl.edu 37 1 197072149 197072149 + Nonsense_Mutation SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_018136.4 -1 reviewed p.R2078* 0.835 49 0% 137 24.8% 1 0% - - - HMMSmart_SM00015,superfamily_P-loop containing nucleoside triphosphate hydrolases ZBTB41 360023 genome.wustl.edu 37 1 197168802 197168802 + Missense_Mutation SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_194314.2 -1 validated p.D268N 0.382 94 0% 344 33.4% 0 - benign(0.072) deleterious(0) neutral(0.450) NULL LHX9 56956 genome.wustl.edu 37 1 197889244 197889244 + Missense_Mutation SNP A A G novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_020204.2 +1 reviewed p.E106G 1.000 72 0% 149 25.5% 2 0% possibly_damaging(0.943) deleterious(0) deleterious(0.832) HMMPfam_LIM,HMMSmart_SM00132,superfamily_Glucocorticoid receptor-like (DNA-binding domain) KIF21B 23046 genome.wustl.edu 37 1 200961495 200961495 + Missense_Mutation SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_017596.2 -1 provisional p.R767H 0.999 114 0% 160 28.1% 0 - probably_damaging(0.994) deleterious(0.03) deleterious(0.817) superfamily_WD40_like SOX13 9580 genome.wustl.edu 37 1 204091488 204091488 + Missense_Mutation SNP A A G novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_005686.2 +1 reviewed p.T329A 0.538 30 0% 39 28.2% 15 26.6% benign(0.059) tolerated(0.45) neutral(0.016) NULL NUCKS1 64710 genome.wustl.edu 37 1 205688760 205688760 + Missense_Mutation SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_022731.3 -1 validated p.D143N 1.000 142 0% 166 25.3% 229 28.3% benign(0.079) deleterious(0) neutral(0.450) NULL YOD1 55432 genome.wustl.edu 37 1 207222861 207222861 + Missense_Mutation SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_018566.3 -1 validated p.R184H 0.994 121 0% 369 36% 4 75% benign(0.014) tolerated(0.39) neutral(0.017) HMMPfam_OTU,superfamily_Cysteine proteinases SYT14 255928 genome.wustl.edu 37 1 210329227 210329227 + Silent SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_153262.2 +1 validated p.F442 1.000 140 0.7% 143 61.5% 0 - - - - HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) PTPN14 5784 genome.wustl.edu 37 1 214549623 214549623 + Missense_Mutation SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_005401.4 -1 reviewed p.R949Q 0.994 311 0% 645 27.9% 4 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Y_phosphatase,HMMSmart_PTPc,superfamily_SSF52799 GJC2 57165 genome.wustl.edu 37 1 228346059 228346059 + Silent SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_020435.2 +1 reviewed p.G200 0.987 17 0% 38 31.6% 1 100% - - - NULL OBSCN 84033 genome.wustl.edu 37 1 228503782 228503782 + Missense_Mutation SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_001098623.1 +1 reviewed p.A4416V 1.000 64 0% 151 33.8% 3 0% benign(0.171) tolerated(0.15) neutral(0.257) HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin KIAA1804 84451 genome.wustl.edu 37 1 233515301 233515301 + Missense_Mutation SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_032435.2 +1 validated p.A850V 0.000 64 0% 57 24.6% 12 41.6% benign(0.005) tolerated(0.1) neutral(0.286) NULL RBM34 23029 genome.wustl.edu 37 1 235324528 235324528 + Nonsense_Mutation SNP C C A rs139917557 by1000genomes TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 ENST00000474086 -1 known p.G8* 0.115 237 0% 603 28.9% 16 37.5% probably_damaging(1) deleterious(0) deleterious(0.945) NULL CHRM3 1131 genome.wustl.edu 37 1 240071128 240071128 + Missense_Mutation SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_000740.2 +1 reviewed p.T126M 1.000 91 0% 73 34.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_SSF81321 WDR64 128025 genome.wustl.edu 37 1 241846910 241846910 + Missense_Mutation SNP G G T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 ENST00000366552 +1 known p.R239I 0.561 43 0% 50 20% 0 - probably_damaging(0.983) tolerated(0.71) neutral(0.430) superfamily_WD40 repeat-like CNST 163882 genome.wustl.edu 37 1 246755209 246755209 + Missense_Mutation SNP A A T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_152609.2 +1 validated p.R115S 0.998 36 0% 38 34.2% 0 - probably_damaging(0.982) tolerated(0.21) deleterious(0.470) NULL ZNF496 84838 genome.wustl.edu 37 1 247492722 247492722 + Silent SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_032752.1 -1 provisional p.A53 0.024 20 0% 96 31.2% 6 33.3% - - - HMMPfam_SCAN,HMMSmart_SCAN ALLC 55821 genome.wustl.edu 37 2 3730547 3730547 + Missense_Mutation SNP T T C novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_018436.3 +1 validated p.W132R 0.986 130 0% 186 41.9% 0 - probably_damaging(1) deleterious(0.02) deleterious(0.883) superfamily_Gal_bind_like,HMMPfam_Allantoicase MYCN 4613 genome.wustl.edu 37 2 16082317 16082317 + Missense_Mutation SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_005378.4 +1 reviewed p.P44L 1.000 25 0% 49 55.1% 28 50% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_Myc_N KCNS3 3790 genome.wustl.edu 37 2 18112561 18112561 + Missense_Mutation SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_002252.3 +1 reviewed p.V96I 1.000 83 0% 74 32.4% 10 30% possibly_damaging(0.638) tolerated(0.09) deleterious(0.520) HMMSmart_BTB,HMMPfam_K_tetra,superfamily_BTB/POZ_fold DNMT3A 1788 genome.wustl.edu 37 2 25464537 25464537 + Missense_Mutation SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_022552.3 -1 reviewed p.R659H 1.000 63 0% 64 35.9% 6 16.6% possibly_damaging(0.44) tolerated(0.07) neutral(0.463) superfamily_S-adenosyl-L-methionine-dependent methyltransferases EMILIN1 11117 genome.wustl.edu 37 2 27305655 27305655 + Missense_Mutation SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_007046.3 +1 reviewed p.R406C 0.999 5 0.000 10 0.600 11 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ZNF512 84450 genome.wustl.edu 37 2 27826132 27826132 + Silent SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_032434.2 +1 validated p.S298 0.956 126 0% 117 24.8% 9 22.2% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2 GPN1 11321 genome.wustl.edu 37 2 27852730 27852730 + Missense_Mutation SNP T T G novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_007266.3 +1 reviewed p.L53R 1.000 130 0% 140 31.4% 10 30% probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMSmart_AAA,HMMPfam_ATP_bind_1,superfamily_SSF52540 XDH 7498 genome.wustl.edu 37 2 31620557 31620557 + Nonsense_Mutation SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_000379.3 -1 reviewed p.Q158* 0.989 135 0% 45 31.1% 0 - - - - HMMPfam_Fer2_2,superfamily_2Fe-2S_bind QPCT 25797 genome.wustl.edu 37 2 37571902 37571902 + Missense_Mutation SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_012413.3 +1 reviewed p.V10M 0.000 20 0% 16 56.2% 8 37.5% unknown(0) deleterious(0.02) - NULL ARHGEF33 100271715 genome.wustl.edu 37 2 39187231 39187231 + Silent SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_001145451.2 +1 validated p.L595 0.865 10 0% 16 37.5% 0 - - - - NULL TTC7A 57217 genome.wustl.edu 37 2 47168708 47168708 + Frame_Shift_Del DEL T T - novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_020458.2 +1 validated p.Y10fs 1.000 - - - - - - - - - NULL LHCGR 3973 genome.wustl.edu 37 2 48915500 48915500 + Missense_Mutation SNP C C A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_000233.3 -1 reviewed p.R479L 0.991 109 0% 72 34.7% 0 - possibly_damaging(0.837) deleterious(0.02) deleterious(0.703) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like PEX13 5194 genome.wustl.edu 37 2 61272929 61272929 + Missense_Mutation SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_002618.3 +1 reviewed p.V286I 0.881 235 0% 178 28.1% 36 30.5% benign(0.021) tolerated(0.22) neutral(0.043) HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain VPS54 51542 genome.wustl.edu 37 2 64141386 64141386 + Missense_Mutation SNP T T C novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_016516.2 -1 reviewed p.Y755C 1.000 89 0% 93 49.5% 19 42.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Vps54 TACR1 6869 genome.wustl.edu 37 2 75425765 75425765 + Missense_Mutation SNP T T C novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_001058.3 -1 reviewed p.Y99C 1.000 171 0% 258 43.4% 0 - probably_damaging(1) tolerated(0.1) deleterious(0.786) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like ANKRD39 51239 genome.wustl.edu 37 2 97519315 97519315 + Silent SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_016466.5 -1 validated p.Y77 0.001 32 0% 51 52.9% 27 25.9% - - - HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK TMEM131 23505 genome.wustl.edu 37 2 98413349 98413349 + Missense_Mutation SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_015348.1 -1 validated p.R991C 1.000 156 0% 188 43.1% 19 15.7% probably_damaging(1) tolerated(0.07) deleterious(0.819) NULL C2orf55 343990 genome.wustl.edu 37 2 99448880 99448880 + Silent SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_207362.2 -1 validated p.D157 0.409 57 0% 66 42.4% 6 33.3% - - - NULL TGFBRAP1 9392 genome.wustl.edu 37 2 105890145 105890145 + Silent SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_001142621.1 -1 validated p.V556 0.998 276 0% 465 13.8% 6 0% benign(0.001) deleterious(0.02) neutral(0.383) NULL INHBB 3625 genome.wustl.edu 37 2 121106799 121106799 + Frame_Shift_Del DEL G G - novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_002193.2 +1 reviewed p.G192fs 1.000 - - - - - - - - - HMMPfam_TGFb_propeptide GLI2 2736 genome.wustl.edu 37 2 121747653 121747653 + Missense_Mutation SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_005270.4 +1 reviewed p.A1388V 0.068 10 0% 15 40% 0 - benign(0.15) tolerated(0.18) neutral(0.069) NULL PROC 5624 genome.wustl.edu 37 2 128180917 128180917 + Silent SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 ENST00000402125 +1 known p.A18V 0.000 17 0% 14 57.1% 0 - - - - HMMSmart_SM00020,superfamily_EGF/Laminin NEB 4703 genome.wustl.edu 37 2 152512338 152512338 + Missense_Mutation SNP A A G novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_004543.4 -1 reviewed p.M2232T 1.000 164 0% 49 14.3% 0 - probably_damaging(0.957) tolerated(0.08) deleterious(0.701) HMMPfam_Nebulin,HMMSmart_SM00227 KCNJ3 3760 genome.wustl.edu 37 2 155555713 155555713 + Silent SNP C C A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_002239.2 +1 reviewed p.A142 1.000 105 0% 140 44.3% 0 - - - - HMMPfam_IRK,superfamily_SSF81324 TANC1 85461 genome.wustl.edu 37 2 160087103 160087103 + Silent SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_033394.2 +1 validated p.P1722 0.025 116 0% 61 49.2% 12 41.6% - - - NULL SSB 6741 genome.wustl.edu 37 2 170663404 170663404 + Splice_Site SNP T T C novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_003142.3 +1 provisional e4+2 1.000 113 0% 213 10.3% 2 50% - - - - TTN 7273 genome.wustl.edu 37 2 179452776 179452776 + Missense_Mutation SNP T T C novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 ENST00000356127 -1 known p.N18550D 1.000 126 0% 36 36.1% 0 - benign(0.014) - - HMMPfam_fn3,HMMSmart_SM00060 CCDC141 285025 genome.wustl.edu 37 2 179730570 179730570 + Missense_Mutation SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_173648.2 -1 provisional p.R308H 0.000 127 0% 53 45.3% 0 - possibly_damaging(0.736) tolerated(0.11) deleterious(0.540) NULL FN1 2335 genome.wustl.edu 37 2 216239990 216239990 + Missense_Mutation SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_212482.1 -1 reviewed p.P2035L 1.000 75 0% 62 43.5% 31 0% benign(0.042) tolerated(0.74) neutral(0.004) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III TNS1 7145 genome.wustl.edu 37 2 218712887 218712889 + In_Frame_Del DEL GCT GCT - novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 GCT GCT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_022648.4 -1 reviewed p.Q659in_frame_del 1.000:1.000:0.994 - - - - - - - - - NULL WDFY1 57590 genome.wustl.edu 37 2 224746657 224746657 + Splice_Site SNP A A G novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_020830.3 -1 reviewed e10+2 1.000 108 0% 104 43.3% 0 - - - - - NGEF 25791 genome.wustl.edu 37 2 233748046 233748046 + Missense_Mutation SNP T T C novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_019850.2 -1 validated p.T578A 1.000 46 0% 52 28.8% 21 42.8% benign(0.001) tolerated(0.4) neutral(0.016) HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like NGEF 25791 genome.wustl.edu 37 2 233785046 233785046 + Missense_Mutation SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_019850.2 -1 validated p.R259Q 0.980 80 0% 83 47% 3 66.6% benign(0) tolerated(0.24) neutral(0.037) NULL NGEF 25791 genome.wustl.edu 37 2 233785047 233785047 + Missense_Mutation SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_019850.2 -1 validated p.R259W 0.982 78 0% 84 40.5% 3 33.3% possibly_damaging(0.76) deleterious(0) deleterious(0.726) NULL NEU2 4759 genome.wustl.edu 37 2 233897400 233897400 + Silent SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_005383.2 +1 reviewed p.L7 0.817 63 0% 109 38.5% 0 - - - - superfamily_Sialidase UBE2F 140739 genome.wustl.edu 37 2 238949966 238949966 + Missense_Mutation SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_080678.1 +1 provisional p.R182H 0.938 143 0% 97 44.3% 65 40% benign(0.003) deleterious(0.04) neutral(0.349) HMMSmart_SM00212,superfamily_UBC-like KIF1A 547 genome.wustl.edu 37 2 241662056 241662056 + Missense_Mutation SNP G G C novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_004321.4 -1 reviewed p.H1393Q 0.996 14 0% 28 50% 2 50% possibly_damaging(0.662) tolerated(0.14) deleterious(0.484) NULL ANO7 50636 genome.wustl.edu 37 2 242129563 242129563 + Missense_Mutation SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_001001891.3 +1 validated p.G83R 0.766 19 0% 27 51.9% 0 - possibly_damaging(0.923) deleterious(0.01) deleterious(0.778) NULL ITPR1 3708 genome.wustl.edu 37 3 4854854 4854854 + Silent SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_001099952.2 +1 reviewed p.F2451 0.999 169 0% 132 35.6% 5 20% - - - HMMPfam_Ion_trans GRM7 2917 genome.wustl.edu 37 3 7620961 7620961 + Missense_Mutation SNP A A T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_181874.2 +1 reviewed p.I790F 1.000 88 0% 61 49.2% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_7tm_3,PatternScan_G_PROTEIN_RECEP_F3_3 OXTR 5021 genome.wustl.edu 37 3 8808979 8808979 + Missense_Mutation SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_000916.3 -1 reviewed p.V299I 1.000 15 0% 24 75% 0 - possibly_damaging(0.889) deleterious(0.01) deleterious(0.755) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like MTMR14 64419 genome.wustl.edu 37 3 9704038 9704038 + Silent SNP A A G novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_001077525.2 +1 reviewed p.P132 0.047 146 0% 77 39% 13 61.5% - - - superfamily_(Phosphotyrosine protein) phosphatases II BRPF1 7862 genome.wustl.edu 37 3 9781540 9781540 + Missense_Mutation SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_001003694.1 +1 reviewed p.A486V 1.000 113 0% 145 50.3% 3 100% possibly_damaging(0.836) tolerated(0.29) neutral(0.349) NULL IL17RC 84818 genome.wustl.edu 37 3 9962252 9962252 + Silent SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_153461.2 +1 reviewed p.Y252 1.000 107 0% 162 46.9% 29 41.3% - - - NULL FANCD2 2177 genome.wustl.edu 37 3 10084272 10084272 + Silent SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_033084.3 +1 reviewed p.S271 0.013 225 0% 220 41.8% 1 100% - - - NULL SLC6A11 6538 genome.wustl.edu 37 3 10970929 10970929 + Missense_Mutation SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_014229.1 +1 provisional p.M425I 1.000 304 0% 304 41.8% 0 - benign(0.038) tolerated(0.35) neutral(0.022) HMMPfam_SNF DLEC1 9940 genome.wustl.edu 37 3 38139083 38139084 + Frame_Shift_Del DEL AG AG - novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 AG AG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_007337.2 +1 reviewed p.D841fs 0.000:0.000 - - - - - - - - - NULL SCN5A 6331 genome.wustl.edu 37 3 38595990 38595990 + Silent SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_001099404.1 -1 reviewed p.D1531 0.842 143 0.7% 61 32.8% 0 - - - - superfamily_Voltage-gated potassium channels MYRIP 25924 genome.wustl.edu 37 3 40085637 40085637 + Missense_Mutation SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 ENST00000396217 +1 known p.R26H 0.005 116 0% 29 37.9% 3 66.6% unknown(0) deleterious(0) - NULL CDCP1 64866 genome.wustl.edu 37 3 45135066 45135066 + Missense_Mutation SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_022842.3 -1 reviewed p.H444Y 0.998 66 0% 36 22.2% 9 22.2% probably_damaging(0.962) deleterious(0.03) deleterious(0.770) NULL SCAP 22937 genome.wustl.edu 37 3 47461187 47461187 + Missense_Mutation SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_012235.2 -1 reviewed p.T524I 1.000 36 0% 64 42.2% 24 54.1% probably_damaging(1) tolerated(0.34) deleterious(0.523) NULL DHX30 22907 genome.wustl.edu 37 3 47868968 47868968 + Splice_Site SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_138615.2 +1 reviewed e3+1 1.000 85 0% 172 42.4% 1 100% - - - - IMPDH2 3615 genome.wustl.edu 37 3 49062644 49062644 + Silent SNP C C A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 ENST00000429182 -1 known p.A311S 1.000 89 0% 163 42.9% 163 45.3% - - - HMMPfam_IMPDH,superfamily_Inosine monophosphate dehydrogenase (IMPDH) BSN 8927 genome.wustl.edu 37 3 49694978 49694978 + Silent SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_003458.3 +1 reviewed p.S2663 0.518 20 0% 36 16.7% 0 - - - - NULL NAT6 24142 genome.wustl.edu 37 3 50334433 50334433 + Silent SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_012191.2 -1 provisional p.R176 0.686 11 0% 15 46.7% 20 15% - - - HMMPfam_Acetyltransf_1,superfamily_Acyl_CoA_acyltransferase NEK4 6787 genome.wustl.edu 37 3 52802572 52802572 + Nonsense_Mutation SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_003157.3 -1 validated p.R48* 0.995 81 0% 162 53.1% 3 0% - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase CACNA2D3 55799 genome.wustl.edu 37 3 54596956 54596956 + Missense_Mutation SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_018398.2 +1 reviewed p.P225L 1.000 206 0% 179 41.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_VWA_N FAM116A 201627 genome.wustl.edu 37 3 57616182 57616182 + Nonsense_Mutation SNP A A T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_152678.2 -1 validated p.L529* 1.000 141 0% 291 43.3% 1 0% - - - HMMPfam_DUF1630 ACOX2 8309 genome.wustl.edu 37 3 58520167 58520167 + Missense_Mutation SNP C C A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_003500.3 -1 reviewed p.M81I 0.000 105 0% 90 42.2% 1 0% benign(0) tolerated(0.48) neutral(0.011) superfamily_AcylCoA_dehyd_NM CADPS 8618 genome.wustl.edu 37 3 62631508 62631508 + Missense_Mutation SNP A A G novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_003716.3 -1 reviewed p.M405T 1.000 178 0% 98 39.8% 0 - benign(0.055) tolerated(0.19) neutral(0.053) HMMPfam_C2 ABI3BP 25890 genome.wustl.edu 37 3 100489771 100489771 + Silent SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 ENST00000495591 -1 known p.S864N 0.999 327 0% 204 41.7% 0 - - - - NULL UPK1B 7348 genome.wustl.edu 37 3 118905611 118905611 + Missense_Mutation SNP T T C novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_006952.3 +1 reviewed p.V8A 0.727 239 0% 161 45.3% 0 - benign(0.385) deleterious(0.01) deleterious(0.528) NULL ARHGAP31 57514 genome.wustl.edu 37 3 119134011 119134011 + Missense_Mutation SNP A A G novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_020754.2 +1 reviewed p.T1079A 0.000 121 0% 61 13.1% 2 0% benign(0) tolerated(0.3) neutral(0.029) NULL EAF2 55840 genome.wustl.edu 37 3 121591463 121591463 + Silent SNP A A G novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_018456.4 +1 validated p.S188 1.000 69 0% 72 40.3% 11 63.6% - - - NULL KALRN 8997 genome.wustl.edu 37 3 124141778 124141778 + Missense_Mutation SNP C C A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_001024660.3 +1 reviewed p.L886I 1.000 83 0% 31 22.6% 0 - probably_damaging(1) tolerated(0.13) deleterious(0.752) superfamily_Spectrin repeat HEG1 57493 genome.wustl.edu 37 3 124748127 124748127 + Silent SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_020733.1 -1 validated p.G174 0.004 138 0% 86 45.3% 2 0% - - - NULL PLXND1 23129 genome.wustl.edu 37 3 129302994 129302994 + Silent SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_015103.2 -1 validated p.R704 0.001 94 0% 169 47.3% 6 16.6% - - - HMMPfam_PSI,HMMSmart_SM00423 ATP2C1 27032 genome.wustl.edu 37 3 130718381 130718381 + Missense_Mutation SNP T T A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_001001486.1 +1 reviewed p.I836N 1.000 149 0% 108 24.1% 169 23.6% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Cation_ATPase_C,superfamily_Calcium ATPase transmembrane domain M ZBTB38 253461 genome.wustl.edu 37 3 141164073 141164073 + Missense_Mutation SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_001080412.2 +1 validated p.P948L 0.916 32 0% 41 41.5% 5 40% probably_damaging(1) tolerated(0.29) deleterious(0.529) NULL MED12L 116931 genome.wustl.edu 37 3 151127089 151127089 + Missense_Mutation SNP T T C novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_053002.4 +1 reviewed p.L1925P 1.000 62 1.6% 51 41.2% 0 - probably_damaging(0.996) tolerated(0.25) deleterious(0.498) NULL SMC4 10051 genome.wustl.edu 37 3 160120494 160120494 + Missense_Mutation SNP A A T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_001002800.1 +1 validated p.S117C 1.000 92 0% 238 45% 2 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SMC_N,superfamily_P-loop containing nucleoside triphosphate hydrolases PIK3CA 5290 genome.wustl.edu 37 3 178916891 178916891 + Missense_Mutation SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_006218.2 +1 reviewed p.R93Q 1.000 60 0% 116 46.6% 0 - probably_damaging(0.999) tolerated(0.24) deleterious(0.528) HMMPfam_PI3K_p85B,HMMSmart_PI3K_p85B PIK3CA 5290 genome.wustl.edu 37 3 178952007 178952007 + Missense_Mutation SNP A A G rs121913288 TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_006218.2 +1 reviewed p.Y1021C 1.000 120 0% 68 45.6% 13 53.8% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_PI3Kc,superfamily_Kinase_like ENSG00000205835 0 genome.wustl.edu 37 3 190575610 190575610 + Missense_Mutation SNP T T G novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 ENST00000442080 -1 known p.N116H 1.000 211 0% 353 40.2% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL RNF168 165918 genome.wustl.edu 37 3 196198890 196198890 + Missense_Mutation SNP T T C novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_152617.2 -1 provisional p.K506E 0.016 365 0% 431 19.3% 4 25% benign(0) tolerated(1) - NULL PCGF3 10336 genome.wustl.edu 37 4 727520 727520 + Silent SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_006315.4 +1 reviewed p.C17 1.000 59 0% 108 50% 18 33.3% - - - HMMSmart_SM00184,HMMPfam_zf-C3HC4,superfamily_RING/U-box SLC26A1 10861 genome.wustl.edu 37 4 983042 983042 + Missense_Mutation SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_022042.2 -1 reviewed p.T562M 0.174 15 0% 26 42.3% 0 - probably_damaging(0.998) deleterious(0.05) deleterious(0.820) HMMPfam_STAS,superfamily_STAS SPON2 10417 genome.wustl.edu 37 4 1165648 1165648 + Missense_Mutation SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 ENST00000290902 -1 known p.S71L 0.237 4 0.000 13 0.462 33 6% probably_damaging(1) tolerated(0.08) deleterious(0.800) HMMPfam_Spond_N HGFAC 3083 genome.wustl.edu 37 4 3447966 3447966 + Missense_Mutation SNP G G T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_001528.2 +1 reviewed p.G434W 0.994 13 0% 22 45.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Trypsin,HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys ABLIM2 84448 genome.wustl.edu 37 4 7968738 7968738 + Silent SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_001130083.1 -1 validated p.K639 1.000 49 0% 123 48% 0 - - - - HMMPfam_VHP,HMMSmart_SM00153,superfamily_VHP Villin headpiece domain GABRA4 2557 genome.wustl.edu 37 4 46979585 46979585 + Silent SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_000809.2 -1 reviewed p.G112 0.999 180 0% 137 10.2% 0 - - - - HMMPfam_Neur_chan_LBD,superfamily_Neur_chan_LBD GABRB1 2560 genome.wustl.edu 37 4 47163485 47163485 + Nonsense_Mutation SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_000812.3 +1 reviewed p.R154* 1.000 147 0% 158 41.8% 0 - - - - HMMPfam_Neur_chan_LBD,superfamily_Neur_chan_LBD KIAA1211 57482 genome.wustl.edu 37 4 57176851 57176851 + Missense_Mutation SNP C C A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_020722.1 +1 validated p.S102Y 0.965 225 0% 429 14.2% 0 - unknown(0) tolerated(0.11) - NULL NOA1 84273 genome.wustl.edu 37 4 57842938 57842938 + Missense_Mutation SNP A A G novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_032313.2 -1 provisional p.C272R 1.000 11 0% 20 70% 23 52.1% probably_damaging(0.997) deleterious(0.02) deleterious(0.849) superfamily_SSF52540 ANKRD17 26057 genome.wustl.edu 37 4 73951008 73951008 + Missense_Mutation SNP A A G novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_032217.3 -1 reviewed p.S2373P 1.000 82 0% 77 20.8% 26 11.5% possibly_damaging(0.951) deleterious(0.01) deleterious(0.800) NULL CXCL5 6374 genome.wustl.edu 37 4 74863804 74863804 + Missense_Mutation SNP A A G novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_002994.3 -1 reviewed p.L84P 0.839 56 0% 253 41.9% 4 0% probably_damaging(0.989) deleterious(0) deleterious(0.884) HMMPfam_IL8,HMMSmart_SM00199,superfamily_Interleukin 8-like chemokines,PatternScan_SMALL_CYTOKINES_CXC NAAA 27163 genome.wustl.edu 37 4 76861237 76861237 + Silent SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_014435.3 -1 reviewed p.T96 0.000 50 0% 68 50% 37 40.5% - - - NULL KLHL8 57563 genome.wustl.edu 37 4 88104461 88104461 + Silent SNP A A G novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_020803.3 -1 validated p.C282 1.000 280 0% 215 38.6% 3 100% - - - superfamily_Galactose oxidase central domain HERC3 8916 genome.wustl.edu 37 4 89628072 89628072 + Silent SNP C C A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_014606.1 +1 provisional p.T1038 0.041 99 0% 79 51.9% 4 75% - - - HMMPfam_HECT,HMMSmart_SM00119,superfamily_Hect E3 ligase catalytic domain GPRIN3 285513 genome.wustl.edu 37 4 90170552 90170552 + Missense_Mutation SNP G G T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_198281.2 -1 validated p.P237H 0.000 42 0% 51 19.6% 0 - benign(0.071) deleterious(0) neutral(0.450) NULL MTTP 4547 genome.wustl.edu 37 4 100532591 100532591 + Missense_Mutation SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_000253.2 +1 reviewed p.A657V 0.009 205 0% 102 42.2% 0 - benign(0.421) tolerated(0.17) neutral(0.196) NULL DAPP1 27071 genome.wustl.edu 37 4 100774497 100774497 + Missense_Mutation SNP G G T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_014395.2 +1 validated p.A161S 0.993 108 0% 71 54.9% 0 - benign(0.126) tolerated(0.17) neutral(0.069) superfamily_PH domain-like,superfamily_SH2 domain SEC24D 9871 genome.wustl.edu 37 4 119654006 119654006 + Missense_Mutation SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_014822.2 -1 reviewed p.C853Y 1.000 178 0% 52 32.7% 43 32.5% possibly_damaging(0.94) deleterious(0.01) deleterious(0.790) HMMPfam_Sec23_helical,superfamily_Helical domain of Sec23/24 FAT4 79633 genome.wustl.edu 37 4 126373294 126373294 + Missense_Mutation SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_024582.4 +1 validated p.T3708I 1.000 148 0% 61 45.9% 1 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL PCDH10 57575 genome.wustl.edu 37 4 134073825 134073825 + Missense_Mutation SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_032961.1 +1 reviewed p.R844W 0.997 102 0% 192 43.8% 0 - probably_damaging(0.999) deleterious(0.02) deleterious(0.873) NULL SFRP2 6423 genome.wustl.edu 37 4 154709841 154709841 + Frame_Shift_Del DEL C C - novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_003013.2 -1 reviewed p.C50fs 1.000 - - - - - - - - - superfamily_Frizzled cysteine-rich domain,HMMPfam_Fz,HMMSmart_SM00063 AADAT 51166 genome.wustl.edu 37 4 170999716 170999716 + Missense_Mutation SNP T T C novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_016228.3 -1 reviewed p.N130D 1.000 114 0% 95 15.8% 1 0% benign(0.003) tolerated(0.32) neutral(0.024) HMMPfam_Aminotran_1_2,superfamily_PLP-dependent transferases ENSG00000249556 0 genome.wustl.edu 37 5 14652415 14652415 + RNA SNP T T C novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 ENST00000515374 +1 novel NULL 1.000 35 0% 18 55.6% 3107 0.2% - - - - PTGER4 5734 genome.wustl.edu 37 5 40681316 40681316 + Missense_Mutation SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_000958.2 +1 reviewed p.P74L 1.000 47 0% 69 52.2% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_7tm_1,superfamily_SSF81321 FCHO2 115548 genome.wustl.edu 37 5 72330527 72330527 + Missense_Mutation SNP A A C novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_138782.2 +1 validated p.E280D 1.000 120 0% 131 29% 4 0% possibly_damaging(0.947) deleterious(0.01) deleterious(0.796) NULL THBS4 7060 genome.wustl.edu 37 5 79378906 79378906 + Missense_Mutation SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_003248.4 +1 reviewed p.T943I 1.000 87 0% 176 25% 3 33.3% benign(0.13) deleterious(0.03) neutral(0.376) HMMPfam_TSP_C,superfamily_ConA_like_lec_gl ZFYVE16 9765 genome.wustl.edu 37 5 79729995 79729995 + Missense_Mutation SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_001105251.1 +1 validated p.S10N 1.000 258 0% 194 25.8% 2 0% benign(0.008) tolerated(0.07) neutral(0.319) NULL ZFYVE16 9765 genome.wustl.edu 37 5 79741187 79741187 + Missense_Mutation SNP C C A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_001105251.1 +1 validated p.S896Y 1.000 158 0% 107 27.1% 3 33.3% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL FAM151B 167555 genome.wustl.edu 37 5 79809543 79809543 + Missense_Mutation SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_205548.1 +1 predicted p.T91I 0.002 124 0% 90 17.8% 1 0% benign(0.038) tolerated(0.17) neutral(0.061) HMMPfam_DUF2181 LOC100131573 100131573 genome.wustl.edu 37 5 93928583 93928583 + Silent SNP A A G novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 XM_001716404.1 +1 model p.E77 0.758 29 0% 15 33.3% 0 - - - - NULL TRIM36 55521 genome.wustl.edu 37 5 114466317 114466317 + Missense_Mutation SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_018700.3 -1 reviewed p.R602C 1.000 76 1.3% 155 43.2% 4 50% possibly_damaging(0.888) deleterious(0.01) deleterious(0.753) NULL AQPEP 206338 genome.wustl.edu 37 5 115350974 115350974 + Missense_Mutation SNP G G T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_173800.4 +1 validated p.V826F 0.001 346 0% 354 23.2% 0 - possibly_damaging(0.882) deleterious(0) deleterious(0.789) NULL NEUROG1 4762 genome.wustl.edu 37 5 134870696 134870696 + Missense_Mutation SNP T T C novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_006161.2 -1 validated p.T229A 0.001 92 0% 198 12.1% 0 - possibly_damaging(0.588) tolerated(0.29) neutral(0.232) NULL PKD2L2 27039 genome.wustl.edu 37 5 137230126 137230126 + Missense_Mutation SNP C C A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_014386.2 +1 validated p.R118S 1.000 133 0% 279 47% 0 - possibly_damaging(0.676) tolerated(0.35) neutral(0.261) HMMPfam_PKD_channel SIL1 64374 genome.wustl.edu 37 5 138282844 138282844 + Silent SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_001037633.1 -1 reviewed p.L450 1.000 35 0% 41 14.6% 52 32.6% - - - NULL PCDHB6 56130 genome.wustl.edu 37 5 140531173 140531173 + Silent SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_018939.2 +1 reviewed p.N445 0.998 109 0% 260 44.2% 0 - - - - HMMSmart_CA,PatternScan_CADHERIN_1,superfamily_Cadherin PCDHGA4 56111 genome.wustl.edu 37 5 140735426 140735426 + Missense_Mutation SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_018917.2 +1 reviewed p.P220L 0.287 33 0% 66 48.5% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGA9 56107 genome.wustl.edu 37 5 140782712 140782712 + Missense_Mutation SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_018921.2 +1 reviewed p.R65C 1.000 35 0% 103 41.7% 0 - - - - HMMSmart_SM00112,HMMPfam_Cadherin_2,superfamily_Cadherin-like PCDHGB6 56100 genome.wustl.edu 37 5 140787977 140787977 + Missense_Mutation SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_018926.2 +1 reviewed p.A70T 0.000 205 0% 458 41.7% 1 0% benign(0.017) tolerated(0.57) neutral(0.007) HMMSmart_SM00112,HMMPfam_Cadherin_2,superfamily_Cadherin-like PCDHGB7 56099 genome.wustl.edu 37 5 140797619 140797619 + Missense_Mutation SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_018927.2 +1 reviewed p.E65K 0.992 162 0% 395 47.1% 0 - benign(0) tolerated(1) - HMMSmart_SM00112,HMMPfam_Cadherin_2,superfamily_Cadherin-like HMGXB3 22993 genome.wustl.edu 37 5 149431388 149431388 + Missense_Mutation SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_014983.2 +1 validated p.R1171H 1.000 85 0% 62 51.6% 47 48.9% benign(0.002) tolerated(0.43) neutral(0.013) NULL ARSI 340075 genome.wustl.edu 37 5 149677807 149677807 + Missense_Mutation SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_001012301.2 -1 validated p.R227H 0.821 86 0% 130 47.7% 0 - possibly_damaging(0.782) deleterious(0.01) deleterious(0.699) HMMPfam_Sulfatase,superfamily_Alkaline phosphatase-like NDST1 3340 genome.wustl.edu 37 5 149907716 149907716 + Nonsense_Mutation SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_001543.4 +1 validated p.W288* 1.000 67 1.5% 98 34.7% 5 20% - - - NULL FAT2 2196 genome.wustl.edu 37 5 150908936 150908936 + Missense_Mutation SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_001447.2 -1 reviewed p.A3277T 0.000 87 0% 112 49.1% 0 - benign(0.103) tolerated(0.24) neutral(0.045) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like GRIA1 2890 genome.wustl.edu 37 5 153078482 153078482 + Missense_Mutation SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_000827.3 +1 reviewed p.R434H 1.000 101 0% 43 41.9% 0 - benign(0.076) tolerated(0.07) neutral(0.325) HMMSmart_SM00079,HMMPfam_Lig_chan-Glu_bd,superfamily_Periplasmic binding protein-like II CCNG1 900 genome.wustl.edu 37 5 162868149 162868149 + Missense_Mutation SNP A A C novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_004060.3 +1 reviewed p.E110D 1.000 175 0% 308 30.8% 30 43.3% possibly_damaging(0.943) deleterious(0) deleterious(0.832) HMMSmart_SM00385,HMMPfam_Cyclin_N,superfamily_Cyclin-like SFXN1 94081 genome.wustl.edu 37 5 174953712 174953712 + Missense_Mutation SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_022754.5 +1 validated p.R315H 0.078 183 0% 141 47.5% 22 63.6% benign(0.113) tolerated(0.54) neutral(0.017) HMMPfam_Mtc NOP16 51491 genome.wustl.edu 37 5 175815448 175815448 + Missense_Mutation SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 ENST00000341213 -1 known p.R7H 1.000 50 0% 62 16.1% 58 10.3% benign(0.142) tolerated(0.27) neutral(0.045) HMMPfam_Nop16 ADAMTS2 9509 genome.wustl.edu 37 5 178541161 178541161 + Missense_Mutation SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_014244.2 -1 reviewed p.D1115N 0.994 212 0% 292 46.2% 4 0% benign(0.103) tolerated(0.41) neutral(0.023) NULL PRPF4B 8899 genome.wustl.edu 37 6 4050109 4050109 + Missense_Mutation SNP C C G novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_003913.4 +1 reviewed p.L724V 1.000 99 0% 88 43.2% 15 53.3% unknown(0) tolerated(0.29) - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase PRPF4B 8899 genome.wustl.edu 37 6 4059020 4059020 + Missense_Mutation SNP A A T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_003913.4 +1 reviewed p.Y931F 1.000 79 0% 64 14.1% 24 8.3% benign(0.059) tolerated(0.23) neutral(0.045) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase CAGE1 285782 genome.wustl.edu 37 6 7365732 7365732 + Missense_Mutation SNP T T C novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_205864.2 -1 validated p.Y558C 0.998 191 0% 160 38.1% 0 - probably_damaging(0.956) deleterious(0.01) deleterious(0.805) NULL KIF13A 63971 genome.wustl.edu 37 6 17817340 17817340 + Silent SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 ENST00000358380 -1 known p.P31L 0.001 96 0% 80 31.2% 4 50% - - - NULL ITPR3 3710 genome.wustl.edu 37 6 33636934 33636934 + Splice_Site SNP G G T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_002224.2 +1 validated e18+1 1.000 31 0% 64 50% 12 100% - - - - KIF6 221458 genome.wustl.edu 37 6 39513422 39513422 + Silent SNP T T C novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 ENST00000458470 -1 known p.Q300R 0.999 142 0% 173 49.1% 0 - - - - NULL LRFN2 57497 genome.wustl.edu 37 6 40360458 40360458 + Missense_Mutation SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_020737.1 -1 provisional p.G532S 0.998 42 0% 61 36.1% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ICK 22858 genome.wustl.edu 37 6 52878499 52878499 + Silent SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_014920.3 -1 reviewed p.P371 0.000 322 0% 236 45.3% 4 50% - - - NULL DST 667 genome.wustl.edu 37 6 56457077 56457077 + Missense_Mutation SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_015548.4 -1 reviewed p.A1646V 1.000 142 0% 92 42.4% 0 - benign(0.058) - - HMMSmart_SM00150,superfamily_Spectrin repeat KCNQ5 56479 genome.wustl.edu 37 6 73332307 73332307 + Silent SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_019842.3 +1 reviewed p.H130 1.000 10 0% 22 45.5% 0 - - - - superfamily_Voltage-gated potassium channels EEF1A1 1915 genome.wustl.edu 37 6 74227567 74227567 + Missense_Mutation SNP G G T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_001402.5 -1 reviewed p.T452N 1.000 27 0% 89 33.7% 7872 43.2% possibly_damaging(0.863) deleterious(0) deleterious(0.778) NULL MYO6 4646 genome.wustl.edu 37 6 76596585 76596585 + Silent SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_004999.3 +1 reviewed p.G844 1.000 91 0% 148 39.9% 48 45.8% - - - superfamily_P-loop containing nucleoside triphosphate hydrolases GJB7 375519 genome.wustl.edu 37 6 87994267 87994267 + Missense_Mutation SNP A A G novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_198568.2 -1 validated p.Y122H 1.000 81 0% 67 32.8% 0 - possibly_damaging(0.757) tolerated(0.54) neutral(0.287) HMMPfam_Connexin MCHR2 84539 genome.wustl.edu 37 6 100390901 100390901 + Missense_Mutation SNP A A G novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_001040179.1 -1 validated p.Y171H 1.000 88 0% 43 18.6% 0 - possibly_damaging(0.75) deleterious(0) deleterious(0.720) HMMPfam_7tm_1,superfamily_SSF81321 KIAA1244 57221 genome.wustl.edu 37 6 138566717 138566717 + Missense_Mutation SNP A A T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_020340.4 +1 validated p.Q218H 0.993 191 0% 84 10.7% 6 0% possibly_damaging(0.852) deleterious(0.04) deleterious(0.676) NULL HIVEP2 3097 genome.wustl.edu 37 6 143091917 143091917 + Missense_Mutation SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_006734.3 -1 provisional p.S1320L 0.965 52 0% 70 41.4% 3 66.6% benign(0.002) tolerated(0.12) neutral(0.261) NULL SHPRH 257218 genome.wustl.edu 37 6 146262963 146262963 + Silent SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_001042683.2 -1 validated p.L762 1.000 73 0% 41 46.3% 1 0% benign(0.069) - - HMMPfam_SNF2_N,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases IPCEF1 26034 genome.wustl.edu 37 6 154567877 154567877 + Missense_Mutation SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_001130699.1 -1 validated p.R32W 1.000 167 0% 118 44.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL NOX3 50508 genome.wustl.edu 37 6 155728350 155728350 + Silent SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_015718.2 -1 reviewed p.D498 0.953 229 0% 136 11% 0 - - - - HMMPfam_NAD_binding_6,superfamily_SSF52343 TMEM181 57583 genome.wustl.edu 37 6 159029707 159029707 + Missense_Mutation SNP T T C novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_020823.1 +1 validated p.L411S 0.962 299 0% 555 10.6% 5 60% benign(0.409) deleterious(0) deleterious(0.577) NULL MLLT4 4301 genome.wustl.edu 37 6 168271106 168271106 + Silent SNP A A G novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_001040001.1 +1 validated p.Q114 0.976 120 0% 111 48.6% 3 33.3% - - - HMMPfam_RA,HMMSmart_RA KIF25 3834 genome.wustl.edu 37 6 168439344 168439344 + Silent SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_030615.2 +1 reviewed p.S143 0.000 161 0% 264 28.8% 0 - - - - HMMPfam_Kinesin,HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases HEATR2 54919 genome.wustl.edu 37 7 801458 801458 + Silent SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 ENST00000440747 +1 known p.R315C 0.000 121 0% 144 50.7% 15 26.6% - - - superfamily_ARM repeat INTS1 26173 genome.wustl.edu 37 7 1518057 1518057 + Silent SNP G G A rs180881535 by1000genomes TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_001080453.2 -1 validated p.I1525 0.132 35 0% 63 42.9% 33 36.3% - - - NULL RADIL 55698 genome.wustl.edu 37 7 4874858 4874858 + Missense_Mutation SNP A A G novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_018059.4 -1 validated p.Y266H 1.000 27 0% 42 35.7% 0 - probably_damaging(0.996) deleterious(0) deleterious(0.906) superfamily_SMAD/FHA domain TNRC18 84629 genome.wustl.edu 37 7 5413796 5413796 + Missense_Mutation SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_001080495.2 -1 provisional p.P1040L 0.952 8 0.000 16 0.250 1 0% probably_damaging(0.996) tolerated(0.11) deleterious(0.733) NULL TMEM196 256130 genome.wustl.edu 37 7 19765233 19765234 + Frame_Shift_Del DEL AG AG - novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 AG AG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_152774.3 -1 validated p.S121fs 0.992:1.000 - - - - - - - - - NULL CCDC126 90693 genome.wustl.edu 37 7 23682550 23682550 + Missense_Mutation SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_138771.3 +1 validated p.A80V 1.000 115 0% 222 38.3% 5 20% probably_damaging(0.957) tolerated(0.08) deleterious(0.701) NULL OSBPL3 26031 genome.wustl.edu 37 7 24905044 24905044 + Missense_Mutation SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_015550.2 -1 reviewed p.S197N 1.000 167 0% 125 11.2% 1 0% benign(0.001) tolerated(0.65) neutral(0.003) NULL EEPD1 80820 genome.wustl.edu 37 7 36336723 36336723 + Silent SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_030636.2 +1 validated p.S479 1.000 272 0% 218 30.3% 8 25% - - - HMMPfam_Exo_endo_phos,superfamily_DNase I-like DDX56 54606 genome.wustl.edu 37 7 44607782 44607782 + Missense_Mutation SNP C C T rs188954038 by1000genomes TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_019082.2 -1 reviewed p.R475Q 1.000 115 0% 113 41.6% 149 40.9% probably_damaging(1) deleterious(0.04) deleterious(0.849) NULL NACAD 23148 genome.wustl.edu 37 7 45124772 45124774 + In_Frame_Del DEL TCT TCT - novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 TCT TCT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 ENST00000258775 -1 known p.E337in_frame_del 0.007:0.009:0.009 - - - - - - - - - NULL ADCY1 107 genome.wustl.edu 37 7 45725634 45725634 + Missense_Mutation SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_021116.2 +1 reviewed p.R716H 0.000 77 0% 53 18.9% 0 - benign(0.003) tolerated(0.12) neutral(0.261) NULL PKD1L1 168507 genome.wustl.edu 37 7 47930200 47930200 + Missense_Mutation SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_138295.2 -1 reviewed p.G872D 0.000 64 0% 48 41.7% 0 - benign(0.042) tolerated(0.72) neutral(0.004) NULL POMZP3 22932 genome.wustl.edu 37 7 76247780 76247780 + Missense_Mutation SNP A A T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 ENST00000454397 -1 known p.F127Y 0.207 40 0% 39 12.8% 0 - unknown(0) deleterious(0.04) - NULL AKAP9 10142 genome.wustl.edu 37 7 91737966 91737966 + Missense_Mutation SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 ENST00000394534 +1 known p.T1748I 0.000 64 0% 64 40.6% 2 0% unknown(0) deleterious(0.01) - NULL RBM48 84060 genome.wustl.edu 37 7 92164020 92164021 + Frame_Shift_Del DEL TT TT - novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 TT TT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_032120.2 +1 validated p.L252fs 0.000:0.000 - - - - - - - - - NULL GNGT1 2792 genome.wustl.edu 37 7 93540200 93540200 + Silent SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_021955.3 +1 validated p.K65 1.000 72 0% 62 24.2% 0 - - - - HMMPfam_G-gamma,HMMSmart_SM00224,superfamily_Transducin (heterotrimeric G protein) gamma chain TFR2 7036 genome.wustl.edu 37 7 100238344 100238344 + Missense_Mutation SNP C C A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_003227.3 -1 reviewed p.Q146H 0.244 45 0% 37 29.7% 0 - benign(0.004) deleterious(0.04) neutral(0.349) NULL GIGYF1 64599 genome.wustl.edu 37 7 100281723 100281723 + Silent SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_022574.4 -1 validated p.P596 0.995 30 0% 56 46.4% 8 12.5% - - - NULL MUC17 140453 genome.wustl.edu 37 7 100676126 100676126 + Missense_Mutation SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_001040105.1 +1 provisional p.V477I 0.002 216 0% 303 44.9% 0 - unknown(0) - - NULL C7orf60 154743 genome.wustl.edu 37 7 112462251 112462251 + Nonsense_Mutation SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_152556.2 -1 validated p.R256* 1.000 82 0% 66 40.9% 2 50% - - - NULL LRRC4 64101 genome.wustl.edu 37 7 127670408 127670408 + Missense_Mutation SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_022143.4 -1 validated p.R96C 1.000 322 0% 555 11% 1 0% possibly_damaging(0.845) deleterious(0.05) deleterious(0.669) HMMPfam_LRR_1,HMMSmart_SM00369,superfamily_L domain-like PRRT4 401399 genome.wustl.edu 37 7 127992593 127992593 + Silent SNP C C G novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_001114726.2 -1 validated p.A339 0.899 90 0% 167 11.4% 0 - - - - NULL PLXNA4 91584 genome.wustl.edu 37 7 132192719 132192719 + Missense_Mutation SNP A A C novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_020911.1 -1 validated p.V245G 1.000 88 0% 43 16.3% 0 - possibly_damaging(0.744) deleterious(0) deleterious(0.718) HMMPfam_Sema,HMMSmart_SM00630,superfamily_Sema domain CALD1 800 genome.wustl.edu 37 7 134613615 134613615 + Missense_Mutation SNP A A G novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_033138.3 +1 reviewed p.Q61R 1.000 45 0% 59 28.8% 23 17.3% benign(0.004) - - HMMPfam_Caldesmon MKRN1 23608 genome.wustl.edu 37 7 140159711 140159711 + Nonsense_Mutation SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_013446.3 -1 validated p.Q114* 1.000 218 0% 237 34.6% 44 38.6% - - - NULL EPHB6 2051 genome.wustl.edu 37 7 142565757 142565757 + Missense_Mutation SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_004445.3 +1 reviewed p.R623Q 0.983 92 0% 121 41.3% 0 - probably_damaging(0.999) tolerated(0.25) deleterious(0.527) NULL OR6V1 346517 genome.wustl.edu 37 7 142750338 142750338 + Missense_Mutation SNP G G T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_001001667.1 +1 provisional p.G301W 0.000 78 0% 31 48.4% 0 - possibly_damaging(0.865) deleterious(0) deleterious(0.780) superfamily_Family A G protein-coupled receptor-like SLC4A2 6522 genome.wustl.edu 37 7 150763627 150763627 + Missense_Mutation SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_003040.3 +1 validated p.A201V 0.158 7 0.000 32 0.406 4 75% unknown(0) tolerated(0.29) - NULL CLDN23 137075 genome.wustl.edu 37 8 8560483 8560483 + Missense_Mutation SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_194284.2 +1 validated p.R192H 0.831 8 0.000 13 0.308 7 42.8% possibly_damaging(0.763) tolerated(0.58) neutral(0.288) NULL ERI1 90459 genome.wustl.edu 37 8 8875838 8875838 + Missense_Mutation SNP A A G novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_153332.3 +1 validated p.Q205R 1.000 97 0% 121 27.3% 4 25% benign(0.146) tolerated(0.33) neutral(0.037) HMMSmart_EXOIII,superfamily_RNaseH_fold,HMMPfam_Exonuc_X-T RP1L1 94137 genome.wustl.edu 37 8 10470652 10470652 + Missense_Mutation SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_178857.5 -1 validated p.G319D 1.000 85 0% 147 27.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL LOXL2 4017 genome.wustl.edu 37 8 23198555 23198555 + Silent SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_002318.2 -1 reviewed p.C231 0.936 121 0% 201 10.4% 16 6.2% - - - HMMPfam_SRCR,PatternScan_SRCR_1,HMMSmart_SR,superfamily_Srcr_receptor ADAM28 10863 genome.wustl.edu 37 8 24171023 24171023 + Missense_Mutation SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_014265.4 +1 reviewed p.C169Y 1.000 257 0% 164 31.7% 15 20% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ADAM7 8756 genome.wustl.edu 37 8 24324407 24324407 + Missense_Mutation SNP T T C novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 ENST00000380789 +1 known p.V162A 0.000 88 0% 81 28.4% 0 - benign(0.001) tolerated(0.27) neutral(0.034) NULL DOCK5 80005 genome.wustl.edu 37 8 25267715 25267715 + Silent SNP T T C novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_024940.6 +1 validated p.T1835 0.000 135 0% 196 24% 69 20.2% - - - NULL BRF2 55290 genome.wustl.edu 37 8 37706118 37706118 + Silent SNP T T C novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_018310.2 -1 reviewed p.Q70 0.879 355 0% 863 12.5% 22 4.5% - - - superfamily_Cyclin_like C8orf46 254778 genome.wustl.edu 37 8 67417635 67417635 + Missense_Mutation SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_152765.3 +1 validated p.T51M 0.001 21 0% 24 37.5% 0 - possibly_damaging(0.609) deleterious(0.03) deleterious(0.576) NULL KIAA1429 25962 genome.wustl.edu 37 8 95501071 95501071 + Missense_Mutation SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_015496.3 -1 validated p.R1768W 1.000 156 0% 101 47.5% 65 36.9% probably_damaging(1) deleterious(0) deleterious(0.945) NULL RAD21 5885 genome.wustl.edu 37 8 117864799 117864799 + Missense_Mutation SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_006265.2 -1 reviewed p.R437H 1.000 171 0% 150 44.7% 50 56% possibly_damaging(0.754) deleterious(0.04) deleterious(0.627) NULL ZHX2 22882 genome.wustl.edu 37 8 123966062 123966062 + Missense_Mutation SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_014943.3 +1 reviewed p.R771Q 0.001 112 0% 99 45.5% 5 20% benign(0.029) tolerated(0.46) neutral(0.013) NULL NDRG1 10397 genome.wustl.edu 37 8 134251220 134251220 + Missense_Mutation SNP G G T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_001135242.1 -1 reviewed p.S362R 1.000 47 0% 58 46.6% 117 40.1% possibly_damaging(0.783) deleterious(0.03) deleterious(0.657) NULL FAM135B 51059 genome.wustl.edu 37 8 139153537 139153537 + Missense_Mutation SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_015912.3 -1 validated p.R1232W 0.993 287 0% 156 46.2% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DUF676,superfamily_alpha/beta-Hydrolases FLJ43860 389690 genome.wustl.edu 37 8 142444105 142444105 + Missense_Mutation SNP T T C novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_207414.2 -1 validated p.S1304G 0.522 107 0% 210 23.8% 0 - benign(0.068) tolerated(0.22) neutral(0.046) superfamily_ARM repeat BAI1 575 genome.wustl.edu 37 8 143604036 143604036 + Silent SNP A A G novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_001702.2 +1 reviewed p.G1070 1.000 122 0% 224 37.9% 0 - - - - HMMPfam_7tm_2 ZNF707 286075 genome.wustl.edu 37 8 144776135 144776135 + Missense_Mutation SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_001100598.1 +1 validated p.A184V 0.012 6 0.000 8 0.625 6 66.6% benign(0) tolerated(0.06) neutral(0.323) PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355 ZNF707 286075 genome.wustl.edu 37 8 144776688 144776688 + Silent SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_001100598.1 +1 validated p.H368 0.000 17 0% 41 43.9% 9 44.4% - - - PatternScan_ZINC_FINGER_C2H2_1 RECQL4 9401 genome.wustl.edu 37 8 145740619 145740619 + Silent SNP C C A rs145615931 by1000genomes TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 ENST00000428558 -1 known p.P466 0.000 46 0% 56 41.1% 10 20% - - - superfamily_P-loop containing nucleoside triphosphate hydrolases ZNF517 340385 genome.wustl.edu 37 8 146032774 146032774 + Missense_Mutation SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_213605.2 +1 validated p.A158V 0.000 26 0% 42 40.5% 3 66.6% benign(0.226) tolerated(0.58) neutral(0.028) NULL GLIS3 169792 genome.wustl.edu 37 9 3856176 3856176 + Missense_Mutation SNP G G T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_001042413.1 -1 reviewed p.P769H 0.984 161 0% 155 40.6% 16 43.7% probably_damaging(0.978) deleterious(0) deleterious(0.865) NULL PTPRD 5789 genome.wustl.edu 37 9 8460542 8460542 + Silent SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_002839.3 -1 reviewed p.D1248 1.000 136 0% 81 40.7% 0 - - - - NULL CNTLN 54875 genome.wustl.edu 37 9 17330634 17330634 + Missense_Mutation SNP C C A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_017738.2 +1 validated p.P449H 0.108 37 0% 43 37.2% 0 - benign(0.075) tolerated(0.07) neutral(0.324) NULL MTAP 4507 genome.wustl.edu 37 9 21837985 21837985 + Silent SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_002451.3 +1 reviewed p.E142 0.981 181 0% 93 43% 18 44.4% - - - HMMPfam_PNP_UDP_1,superfamily_Purine and uridine phosphorylases C9orf72 203228 genome.wustl.edu 37 9 27556712 27556712 + Missense_Mutation SNP T T C novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_018325.2 -1 validated p.N313S 1.000 99 0% 54 46.3% 8 37.5% benign(0.049) tolerated(0.46) neutral(0.015) NULL TRPM3 80036 genome.wustl.edu 37 9 73151332 73151332 + Missense_Mutation SNP C C A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_001007471.2 -1 reviewed p.R1554M 0.990 99 0% 142 43.7% 0 - probably_damaging(0.991) deleterious(0.03) deleterious(0.808) NULL GKAP1 80318 genome.wustl.edu 37 9 86403525 86403525 + Silent SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_025211.3 -1 reviewed p.E143 0.998 160 0% 211 31.3% 8 37.5% - - - NULL OGN 4969 genome.wustl.edu 37 9 95165630 95165630 + Silent SNP T T C novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_014057.3 -1 reviewed p.A20 1.000 152 0% 119 14.3% 0 - - - - NULL C9orf102 375748 genome.wustl.edu 37 9 98728980 98728980 + Nonsense_Mutation SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 ENST00000402838 +1 known p.R17* 0.999 139 0% 95 53.7% 2 50% probably_damaging(0.969) deleterious(0) deleterious(0.856) NULL RNF20 56254 genome.wustl.edu 37 9 104312896 104312896 + Silent SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_019592.5 +1 reviewed p.L367 1.000 86 0% 46 28.3% 7 14.2% - - - NULL OR13F1 138805 genome.wustl.edu 37 9 107267039 107267039 + Silent SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_001004485.1 +1 provisional p.L166 0.209 195 0% 106 40.6% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 KLF4 9314 genome.wustl.edu 37 9 110251228 110251228 + Missense_Mutation SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_004235.4 -1 validated p.A37T 0.999 28 0% 37 27% 1 100% probably_damaging(0.957) tolerated(0.05) deleterious(0.746) NULL PTGR1 22949 genome.wustl.edu 37 9 114348276 114348276 + Splice_Site SNP A A G novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_012212.3 -1 reviewed e4+2 1.000 100 0% 52 23.1% 2 50% - - - - C9orf91 203197 genome.wustl.edu 37 9 117389239 117389239 + Missense_Mutation SNP A A G novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_153045.3 +1 validated p.R93G 1.000 47 0% 36 36.1% 6 33.3% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL ASTN2 23245 genome.wustl.edu 37 9 119770371 119770371 + Missense_Mutation SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_198187.3 -1 reviewed p.G531R 1.000 110 0% 69 49.3% 0 - possibly_damaging(0.773) deleterious(0) deleterious(0.732) NULL OR1Q1 158131 genome.wustl.edu 37 9 125377712 125377712 + Frame_Shift_Del DEL G G - novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_012364.1 +1 provisional p.G233fs 0.000 - - - - - - - - - HMMPfam_7tm_1,superfamily_SSF81321 GPR144 347088 genome.wustl.edu 37 9 127231556 127231556 + Frame_Shift_Del DEL G G - novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 ENST00000334810 +1 known p.A789fs 0.998 - - - - - - - - - HMMPfam_7tm_2 ENTPD2 954 genome.wustl.edu 37 9 139944937 139944937 + Silent SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_203468.1 -1 reviewed p.L276 0.000 45 0% 55 25.5% 74 21.6% - - - HMMPfam_GDA1_CD39 DPP7 29952 genome.wustl.edu 37 9 140007875 140007875 + Missense_Mutation SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_013379.2 -1 reviewed p.A187T 0.999 27 0% 42 38.1% 331 25% unknown(0) - - HMMPfam_Peptidase_S28,superfamily_SSF53474 CALML3 810 genome.wustl.edu 37 10 5567427 5567427 + Missense_Mutation SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_005185.2 +1 validated p.R127W 1.000 36 0% 76 48.7% 0 - probably_damaging(0.98) deleterious(0) deleterious(0.869) HMMSmart_SM00054,HMMPfam_efhand,superfamily_EF-hand ITIH2 3698 genome.wustl.edu 37 10 7755153 7755153 + Silent SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_002216.2 +1 validated p.D124 0.988 110 0% 114 13.2% 0 - - - - HMMSmart_VIT,HMMPfam_VIT ITIH2 3698 genome.wustl.edu 37 10 7769789 7769790 + Frame_Shift_Ins INS - - GGGC novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_002216.2 +1 validated p.E428fs 1.000:0.988 - - - - - - - - - HMMPfam_VWA,HMMSmart_VWA,superfamily_SSF53300 ITIH2 3698 genome.wustl.edu 37 10 7776907 7776907 + Missense_Mutation SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_002216.2 +1 validated p.A604T 0.000 64 0% 51 37.3% 0 - benign(0) tolerated(0.15) neutral(0.241) NULL SUV39H2 79723 genome.wustl.edu 37 10 14939419 14939419 + Missense_Mutation SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_024670.3 +1 provisional p.S191L 1.000 117 0% 167 43.7% 6 16.6% probably_damaging(0.966) tolerated(0.18) neutral(0.464) HMMPfam_SET,HMMSmart_SET,superfamily_SSF82199 PTCHD3 374308 genome.wustl.edu 37 10 27703018 27703018 + Silent SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_001034842.3 -1 validated p.P54 0.000 21 0% 27 40.7% 0 - - - - NULL GDF2 2658 genome.wustl.edu 37 10 48413918 48413918 + Missense_Mutation SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_016204.1 -1 reviewed p.R317Q 0.003 69 0% 42 21.4% 0 - benign(0.147) tolerated(0.29) neutral(0.042) superfamily_Cystine-knot cytokines SLC18A3 6572 genome.wustl.edu 37 10 50820256 50820256 + Silent SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_003055.2 +1 reviewed p.P490 0.984 38 0% 54 50% 0 - - - - NULL PCDH15 65217 genome.wustl.edu 37 10 55591228 55591228 + Missense_Mutation SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_001142763.1 -1 reviewed p.R1355H 1.000 193 0% 341 39.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL TET1 80312 genome.wustl.edu 37 10 70332459 70332459 + Missense_Mutation SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_030625.2 +1 validated p.V122I 0.492 42 0% 73 31.5% 0 - benign(0) tolerated(1) - NULL CDH23 64072 genome.wustl.edu 37 10 73447441 73447441 + Missense_Mutation SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_022124.5 +1 reviewed p.A675V 1.000 66 0% 71 12.7% 0 - benign(0.001) tolerated(0.37) neutral(0.019) superfamily_Cadherin-like CDH23 64072 genome.wustl.edu 37 10 73553250 73553250 + Missense_Mutation SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_022124.5 +1 reviewed p.P2189S 0.972 52 0% 41 24.4% 0 - possibly_damaging(0.839) tolerated(0.2) neutral(0.369) HMMPfam_Cadherin,superfamily_Cadherin-like PLA2G12B 84647 genome.wustl.edu 37 10 74714325 74714325 + Missense_Mutation SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_032562.2 -1 validated p.R40Q 1.000 71 0% 53 13.2% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_PLA2G12 TTC18 118491 genome.wustl.edu 37 10 75056814 75056814 + Missense_Mutation SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_145170.3 -1 validated p.V614I 1.000 214 0% 122 35.2% 0 - possibly_damaging(0.472) tolerated(0.31) neutral(0.183) NULL USP54 159195 genome.wustl.edu 37 10 75335312 75335312 + Silent SNP A A G novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_152586.3 -1 provisional p.N35 1.000 130 0% 84 11.9% 2 0% - - - superfamily_Cysteine proteinases SEC24C 9632 genome.wustl.edu 37 10 75529764 75529768 + Frame_Shift_Del DEL CTTAC CTTAC - novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 CTTAC CTTAC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_004922.2 +1 reviewed p.L952fs 0.998:1.000:1.000:0.992:1.000 - - - - - - - - - superfamily_C-terminal gelsolin-like domain of Sec23/24 OPN4 94233 genome.wustl.edu 37 10 88417836 88417836 + Missense_Mutation SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_001030015.2 +1 validated p.A124V 0.991 224 0.4% 271 20.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_1,superfamily_SSF81321 PTEN 5728 genome.wustl.edu 37 10 89692904 89692904 + Missense_Mutation SNP C C G rs121909224 byCluster TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 ENST00000371953 +1 known p.R130G 1.000 175 0% 121 35.5% 28 42.8% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DSPc,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1,superfamily_(Phosphotyrosine protein) phosphatases II PTEN 5728 genome.wustl.edu 37 10 89725123 89725123 + Frame_Shift_Del DEL T T - novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 ENST00000371953 +1 known p.S370fs 1.000 - - - - - - - - - NULL PDE6C 5146 genome.wustl.edu 37 10 95405722 95405722 + Missense_Mutation SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_006204.3 +1 reviewed p.T618M 1.000 294 0% 163 41.7% 0 - possibly_damaging(0.836) tolerated(0.07) deleterious(0.639) HMMPfam_PDEase_I,HMMSmart_HDc,superfamily_SSF109604 PKD2L1 9033 genome.wustl.edu 37 10 102088970 102088970 + Missense_Mutation SNP A A G novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_016112.2 -1 reviewed p.L116P 0.998 115 0% 94 33% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL POLL 27343 genome.wustl.edu 37 10 103344556 103344556 + Missense_Mutation SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_013274.3 -1 reviewed p.A232T 0.140 82 0% 90 31.1% 13 38.4% benign(0) tolerated(0.13) neutral(0.253) NULL SH3PXD2A 9644 genome.wustl.edu 37 10 105361747 105361747 + Silent SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 ENST00000420222 -1 known p.V1003I 0.833 86 0% 180 38.3% 3 0% - - - HMMSmart_SM00326,superfamily_SH3-domain INPP5F 22876 genome.wustl.edu 37 10 121551601 121551601 + RNA SNP C C A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NR_003251.1 +1 reviewed NULL 0.002 170 0% 404 41.6% 0 - - - - - FGFR2 2263 genome.wustl.edu 37 10 123274794 123274794 + Missense_Mutation SNP T T C rs121913478 byCluster TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_022970.3 -1 reviewed p.Y376C 1.000 101 0% 89 41.6% 69 39.1% probably_damaging(1) deleterious(0.03) deleterious(0.865) NULL GPR26 2849 genome.wustl.edu 37 10 125434427 125434427 + Silent SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_153442.3 +1 validated p.F254 1.000 139 0% 125 37.6% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 C10orf90 118611 genome.wustl.edu 37 10 128192818 128192818 + Silent SNP T T C novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_001004298.2 -1 validated p.E317 0.000 160 0% 183 44.8% 0 - - - - NULL DOCK1 1793 genome.wustl.edu 37 10 129152936 129152936 + Silent SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 ENST00000398025 +1 known p.Y1121 0.993 376 0.3% 298 41.3% 8 50% - - - NULL MUC2 4583 genome.wustl.edu 37 11 1102461 1102461 + Silent SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_002457.2 +1 reviewed p.F2611 0.006 61 0% 98 41.8% 1 100% - - - HMMPfam_VWC,HMMSmart_SM00214,PatternScan_VWFC_1 MUC5B 727897 genome.wustl.edu 37 11 1264307 1264307 + Missense_Mutation SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_002458.1 +1 validated p.S2069N 0.000 480 0% 786 38% 11 9% possibly_damaging(0.892) - - NULL TRPM5 29850 genome.wustl.edu 37 11 2434174 2434174 + Missense_Mutation SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_014555.3 -1 validated p.T722I 0.993 39 0% 80 31.2% 0 - possibly_damaging(0.893) tolerated(0.21) neutral(0.396) NULL NUP98 4928 genome.wustl.edu 37 11 3797196 3797196 + Silent SNP A A G novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_016320.4 -1 reviewed p.S137 0.998 107 0% 128 43.8% 4 75% - - - superfamily_SSF88633 RRM1 6240 genome.wustl.edu 37 11 4139574 4139574 + Silent SNP T T C novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_001033.3 +1 reviewed p.D225 1.000 252 0% 382 41.6% 15 26.6% - - - HMMPfam_Ribonuc_red_lgC,superfamily_SSF51998 ILK 3611 genome.wustl.edu 37 11 6631189 6631189 + Missense_Mutation SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_001014794.1 +1 reviewed p.R334Q 1.000 121 0.8% 240 38.8% 107 39.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Pkinase_Tyr,superfamily_Kinase_like ST5 6764 genome.wustl.edu 37 11 8720482 8720482 + Missense_Mutation SNP G G C novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_005418.3 -1 reviewed p.Q980E 1.000 129 0% 128 38.3% 28 64.2% benign(0.041) tolerated(0.65) neutral(0.005) NULL ST5 6764 genome.wustl.edu 37 11 8728747 8728747 + Missense_Mutation SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_005418.3 -1 reviewed p.R819H 1.000 95 0% 92 37% 27 40.7% probably_damaging(0.978) tolerated(0.31) neutral(0.448) HMMPfam_DENN,HMMSmart_SM00799 MYOD1 4654 genome.wustl.edu 37 11 17742960 17742960 + Missense_Mutation SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_002478.4 +1 reviewed p.E290K 0.889 10 0.000 7 0.857 0 - benign(0.005) tolerated(0.64) neutral(0.003) NULL LGR4 55366 genome.wustl.edu 37 11 27402241 27402241 + Missense_Mutation SNP G G T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_018490.2 -1 validated p.P283H 1.000 61 0% 45 33.3% 25 52% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF52047,superfamily_SSF52058 CAPRIN1 4076 genome.wustl.edu 37 11 34119324 34119324 + Nonsense_Mutation SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_203364.2 +1 validated p.W694* 1.000 59 0% 43 34.9% 10 50% - - - NULL OR9G4 283189 genome.wustl.edu 37 11 56510405 56510405 + Missense_Mutation SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_001005284.1 -1 provisional p.V295M 0.464 228 0% 276 47.1% 0 - possibly_damaging(0.873) tolerated(0.35) neutral(0.360) HMMPfam_7tm_1,superfamily_SSF81321 STIP1 10963 genome.wustl.edu 37 11 63964814 63964814 + Silent SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_006819.2 +1 validated p.Y248 0.071 112 0% 142 45.8% 104 43.2% - - - HMMPfam_TPR_1,HMMSmart_TPR,superfamily_SSF48452 VEGFB 7423 genome.wustl.edu 37 11 64003397 64003397 + Silent SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_003377.3 +1 provisional p.C72 0.697 130 0% 139 19.4% 132 13.6% - - - HMMPfam_PDGF,HMMSmart_SM00141,PatternScan_PDGF_1,superfamily_Cystine-knot cytokines SLC22A12 116085 genome.wustl.edu 37 11 64368983 64368983 + Missense_Mutation SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_144585.2 +1 reviewed p.G541D 0.000 77 0% 139 19.4% 0 - benign(0.002) tolerated(0.64) neutral(0.003) NULL BATF2 116071 genome.wustl.edu 37 11 64756889 64756889 + Silent SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_138456.3 -1 validated p.S179 0.000 30 0% 33 36.4% 2 50% - - - NULL C11orf2 738 genome.wustl.edu 37 11 64875430 64875430 + Missense_Mutation SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_013265.2 +1 provisional p.A221T 0.998 19 0% 28 32.1% 76 44.7% possibly_damaging(0.772) deleterious(0.01) deleterious(0.693) NULL NDUFV1 4723 genome.wustl.edu 37 11 67378921 67378921 + Missense_Mutation SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_007103.3 +1 reviewed p.G321S 1.000 89 0% 110 49.1% 85 1.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SLBB TCIRG1 10312 genome.wustl.edu 37 11 67817647 67817647 + Missense_Mutation SNP T T C novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_006019.2 +1 reviewed p.I721T 1.000 106 0.9% 165 12.1% 144 22.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_V_ATPase_I MYEOV 26579 genome.wustl.edu 37 11 69063097 69063097 + Silent SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_138768.2 +1 validated p.F60 0.000 82 0% 156 31.4% 1 0% - - - NULL CCND1 595 genome.wustl.edu 37 11 69465892 69465892 + Missense_Mutation SNP C C A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_053056.2 +1 reviewed p.L244I 1.000 40 0% 70 45.7% 43 37.2% possibly_damaging(0.952) deleterious(0.04) deleterious(0.744) HMMPfam_Cyclin_C,superfamily_Cyclin-like ARAP1 116985 genome.wustl.edu 37 11 72409057 72409057 + Missense_Mutation SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_001040118.2 -1 reviewed p.A879V 0.993 35 0% 62 45.2% 21 23.8% benign(0.124) tolerated(0.15) neutral(0.251) HMMSmart_SM00233,superfamily_PH domain-like PGM2L1 283209 genome.wustl.edu 37 11 74082813 74082813 + Missense_Mutation SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_173582.3 -1 validated p.G110D 1.000 161 0% 127 40.2% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PGM_PMM_I,superfamily_Phosphoglucomutase first 3 domains OMP 4975 genome.wustl.edu 37 11 76814045 76814045 + Missense_Mutation SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_006189.1 +1 reviewed p.R54C 1.000 38 0% 57 47.4% 0 - probably_damaging(1) tolerated(0.1) deleterious(0.786) HMMPfam_Olfactory_mark,superfamily_Olfactory_marker GAB2 9846 genome.wustl.edu 37 11 77991696 77991696 + Silent SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_080491.2 -1 reviewed p.V109 0.916 200 0% 115 40.9% 1 0% - - - HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like PRCP 5547 genome.wustl.edu 37 11 82595871 82595871 + Silent SNP A A G novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_199418.2 -1 reviewed p.T75 0.000 110 0% 138 47.1% 0 - - - - NULL C11orf65 160140 genome.wustl.edu 37 11 108263933 108263933 + Splice_Site SNP A A G novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_152587.3 -1 validated e6+2 1.000 251 0% 197 44.2% 0 - - - - - ZBTB16 7704 genome.wustl.edu 37 11 113934832 113934832 + Silent SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_001018011.1 +1 reviewed p.D270 1.000 27 0% 48 25% 0 - - - - NULL DSCAML1 57453 genome.wustl.edu 37 11 117340692 117340692 + Silent SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_020693.2 -1 provisional p.P1046 0.997 141 0% 135 17.8% 0 - - - - HMMPfam_fn3,superfamily_Fibronectin type III IFT46 56912 genome.wustl.edu 37 11 118416178 118416178 + Silent SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_020153.3 -1 validated p.R306 1.000 72 0% 81 34.6% 37 51.3% - - - NULL VPS11 55823 genome.wustl.edu 37 11 118949542 118949542 + Nonsense_Mutation SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 ENST00000300793 +1 known p.Q700* 1.000 66 0% 75 17.3% 26 3.8% - - - NULL TBCEL 219899 genome.wustl.edu 37 11 120918257 120918257 + Missense_Mutation SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_001130047.1 +1 validated p.V52I 1.000 111 0% 62 37.1% 3 66.6% benign(0.003) tolerated(0.51) neutral(0.009) superfamily_SSF52047 VWA5A 4013 genome.wustl.edu 37 11 124016065 124016065 + Missense_Mutation SNP A A G novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_001130142.1 +1 validated p.H759R 0.004 122 0% 58 34.5% 15 20% benign(0.003) tolerated(0.73) neutral(0.002) NULL OR8G2 26492 genome.wustl.edu 37 11 124096161 124096161 + Missense_Mutation SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_001007249.1 +1 provisional p.S255N 0.338 233 0% 245 11% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 TBRG1 84897 genome.wustl.edu 37 11 124494858 124494858 + Missense_Mutation SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_032811.2 +1 validated p.R61H 1.000 113 0% 279 43.7% 4 25% benign(0.065) tolerated(0.15) neutral(0.245) NULL KCNJ1 3758 genome.wustl.edu 37 11 128709273 128709273 + Missense_Mutation SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_000220.2 -1 reviewed p.C308Y 1.000 99 0% 39 25.6% 0 - probably_damaging(0.965) deleterious(0) deleterious(0.851) HMMPfam_IRK,superfamily_E set domains PRDM10 56980 genome.wustl.edu 37 11 129780429 129780431 + In_Frame_Del DEL CTG CTG - novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 CTG CTG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_020228.2 -1 reviewed p.Q1039in_frame_del 0.107:0.998:1.000 - - - - - - - - - NULL NCAPD3 23310 genome.wustl.edu 37 11 134055317 134055317 + Missense_Mutation SNP G G T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_015261.2 -1 validated p.P717H 0.981 195 0% 127 44.1% 9 44.4% possibly_damaging(0.876) tolerated(0.07) deleterious(0.660) superfamily_ARM-type_fold LOC678655 678655 genome.wustl.edu 37 12 6560628 6560629 + RNA DEL GT GT - novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 GT GT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NR_015382.1 -1 predicted NULL 0.000:0.000 - - - - - - - - - - CHD4 1108 genome.wustl.edu 37 12 6709724 6709724 + Nonsense_Mutation SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_001273.2 -1 reviewed p.R347* 0.998 97 0% 171 48% 15 13.3% - - - NULL GNB3 2784 genome.wustl.edu 37 12 6952957 6952957 + Missense_Mutation SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_002075.2 +1 reviewed p.E172K 1.000 198 0% 335 40.6% 2 50% probably_damaging(0.991) deleterious(0) deleterious(0.889) superfamily_WD40_like ATN1 1822 genome.wustl.edu 37 12 7045891 7045891 + Silent SNP A A G novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_001007026.1 +1 reviewed p.Q487 0.002 53 0% 102 26.5% 31 22.5% - - - HMMPfam_Atrophin-1 ASUN 55726 genome.wustl.edu 37 12 27067012 27067014 + In_Frame_Del DEL TCT TCT - novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 TCT TCT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_018164.2 -1 validated p.E489in_frame_del 1.000:1.000:0.987 - - - - - - - - - HMMPfam_DUF2151 DNM1L 10059 genome.wustl.edu 37 12 32873730 32873730 + Splice_Site SNP G G C novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_012062.3 +1 reviewed e8+1 1.000 93 0% 64 18.8% 0 - - - - - ENDOU 8909 genome.wustl.edu 37 12 48110249 48110249 + Silent SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_006025.3 -1 reviewed p.S154 1.000 225 0% 212 22.6% 0 - - - - HMMPfam_XendoU ADCY6 112 genome.wustl.edu 37 12 49168238 49168238 + Missense_Mutation SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_015270.3 -1 reviewed p.A744T 0.006 87 0% 109 52.3% 9 11.1% benign(0.003) tolerated(0.21) neutral(0.044) NULL NCKAP5L 57701 genome.wustl.edu 37 12 50190318 50190318 + Missense_Mutation SNP C C A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_001037806.3 -1 validated p.G442V 0.607 28 0% 52 36.5% 3 66.6% probably_damaging(0.961) tolerated(0.29) neutral(0.433) NULL SMARCD1 6602 genome.wustl.edu 37 12 50484331 50484331 + Missense_Mutation SNP T T C novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_003076.4 +1 reviewed p.L364S 1.000 169 0% 249 45.4% 23 47.8% unknown(0) tolerated(0.31) - HMMPfam_SWIB,superfamily_SWIB/MDM2 domain,HMMSmart_SM00151 EIF4B 1975 genome.wustl.edu 37 12 53412783 53412783 + Missense_Mutation SNP G G T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_001417.4 +1 validated p.G118V 1.000 93 0% 89 21.3% 38 5.2% probably_damaging(0.958) deleterious(0.01) deleterious(0.807) HMMPfam_RRM_1,HMMSmart_RRM,superfamily_SSF54928 ANKRD52 283373 genome.wustl.edu 37 12 56637023 56637023 + Missense_Mutation SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_173595.3 -1 validated p.T1045M 1.000 37 0% 46 19.6% 3 0% possibly_damaging(0.948) tolerated(0.06) deleterious(0.714) NULL NACA 4666 genome.wustl.edu 37 12 57118253 57118253 + Missense_Mutation SNP T T A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_001113203.1 -1 validated p.Q18L 1.000 93 0% 79 30.4% 1499 17.4% benign(0.06) tolerated(0.05) neutral(0.349) NULL TMEM194A 23306 genome.wustl.edu 37 12 57472499 57472499 + Silent SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_001130963.1 -1 validated p.S10 0.008 23 0% 25 36% 3 66.6% - - - NULL GLI1 2735 genome.wustl.edu 37 12 57863223 57863223 + Missense_Mutation SNP C C A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_005269.2 +1 reviewed p.P440T 1.000 51 0% 82 42.7% 2 0% benign(0.001) deleterious(0.05) neutral(0.345) NULL PPM1H 57460 genome.wustl.edu 37 12 63042406 63042406 + Missense_Mutation SNP C C A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_020700.1 -1 validated p.A470S 1.000 117 0% 77 57.1% 31 54.8% probably_damaging(0.994) tolerated(0.06) deleterious(0.774) HMMSmart_SM00332,superfamily_Protein serine/threonine phosphatase 2C catalytic domain USP44 84101 genome.wustl.edu 37 12 95927652 95927652 + Silent SNP A A G novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_001042403.1 -1 validated p.D127 0.996 197 0.5% 179 13.4% 0 - - - - NULL NT5DC3 51559 genome.wustl.edu 37 12 104186967 104186967 + Missense_Mutation SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_001031701.2 -1 validated p.P332S 1.000 99 0% 108 41.7% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_5_nucleotid,superfamily_HAD-like KIAA1033 23325 genome.wustl.edu 37 12 105527566 105527566 + Silent SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_015275.1 +1 validated p.Y406 1.000 217 0% 411 49.9% 0 - - - - NULL C12orf51 283450 genome.wustl.edu 37 12 112655000 112655000 + Splice_Site SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_001109662.2 -1 validated e39-1 1.000 21 0% 39 59% 0 - - - - - MED13L 23389 genome.wustl.edu 37 12 116399085 116399085 + Missense_Mutation SNP T T A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_015335.3 -1 validated p.M2207L 1.000 105 0% 67 19.4% 25 24% benign(0.044) tolerated(0.43) neutral(0.016) NULL WSB2 55884 genome.wustl.edu 37 12 118474162 118474162 + Missense_Mutation SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_018639.3 -1 reviewed p.E272K 1.000 60 0% 66 43.9% 40 45% possibly_damaging(0.875) tolerated(0.4) neutral(0.356) HMMSmart_WD40,superfamily_WD40_like RAN 5901 genome.wustl.edu 37 12 131360258 131360258 + Missense_Mutation SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_006325.3 +1 reviewed p.M179I 1.000 148 0% 234 43.2% 239 42.6% benign(0) tolerated(0.11) neutral(0.272) HMMSmart_SM00176,superfamily_P-loop containing nucleoside triphosphate hydrolases EP400 57634 genome.wustl.edu 37 12 132522321 132522321 + Missense_Mutation SNP A A G novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_015409.3 +1 validated p.M2015V 1.000 124 0% 180 43.3% 7 28.5% unknown(0) - - NULL FAM123A 219287 genome.wustl.edu 37 13 25744778 25744778 + Missense_Mutation SNP A A T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_152704.2 -1 validated p.V327E 0.198 15 0% 42 35.7% 0 - benign(0.148) tolerated(0.99) neutral(0.013) HMMPfam_WTX MRPS31 10240 genome.wustl.edu 37 13 41303573 41303573 + Missense_Mutation SNP A A G novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_005830.3 -1 reviewed p.W375R 1.000 57 0% 90 13.3% 21 14.2% probably_damaging(1) deleterious(0) deleterious(0.945) NULL AKAP11 11215 genome.wustl.edu 37 13 42877508 42877508 + Silent SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_016248.2 +1 reviewed p.Q1542 1.000 101 0% 48 41.7% 10 60% - - - NULL ZC3H13 23091 genome.wustl.edu 37 13 46549808 46549809 + Frame_Shift_Del DEL CT CT - novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 CT CT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_015070.3 -1 validated p.R693fs 0.991:0.444 - - - - - - - - - NULL KPNA3 3839 genome.wustl.edu 37 13 50296619 50296619 + Missense_Mutation SNP T T C novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_002267.3 -1 reviewed p.I184V 1.000 74 0% 133 56.4% 11 27.2% benign(0.169) tolerated(0.26) neutral(0.050) HMMPfam_Arm,HMMSmart_SM00185,superfamily_ARM repeat SLITRK6 84189 genome.wustl.edu 37 13 86368764 86368764 + Missense_Mutation SNP C C A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_032229.2 -1 validated p.G627V 1.000 166 0% 100 48% 2 50% probably_damaging(1) deleterious(0.04) deleterious(0.849) NULL ABCC4 10257 genome.wustl.edu 37 13 95847149 95847149 + Silent SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_005845.3 -1 reviewed p.L402 0.000 143 0.7% 168 51.2% 0 - - - - superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain TM9SF2 9375 genome.wustl.edu 37 13 100193882 100193882 + Silent SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_004800.1 +1 provisional p.L326 0.467 196 0% 185 39.5% 57 47.3% - - - HMMPfam_EMP70 ATP11A 23250 genome.wustl.edu 37 13 113505507 113505507 + Missense_Mutation SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_032189.3 +1 reviewed p.L656F 1.000 94 0% 160 26.9% 1 0% probably_damaging(0.994) deleterious(0.01) deleterious(0.858) superfamily_HAD-like,superfamily_Metal cation-transporting ATPase ATP-binding domain N,superfamily_Calcium ATPase transmembrane domain M OR4N2 390429 genome.wustl.edu 37 14 20295870 20295870 + Missense_Mutation SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_001004723.1 +1 provisional p.A88V 0.922 547 0.2% 475 14.9% 0 - benign(0) deleterious(0.02) neutral(0.383) HMMPfam_7tm_1,superfamily_SSF81321 PRMT5 10419 genome.wustl.edu 37 14 23393478 23393478 + Splice_Site SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_006109.3 -1 validated e11+1 1.000 104 0% 95 51.6% 3 100% - - - - PCK2 5106 genome.wustl.edu 37 14 24572030 24572030 + Missense_Mutation SNP G G T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_004563.2 +1 reviewed p.D435Y 1.000 88 0% 111 34.2% 22 18.1% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_PEPCK,superfamily_PEP carboxykinase-like AKAP6 9472 genome.wustl.edu 37 14 33293354 33293354 + Missense_Mutation SNP A A G novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_004274.4 +1 reviewed p.Y2112C 1.000 99 0% 53 39.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL YLPM1 56252 genome.wustl.edu 37 14 75245269 75245269 + Silent SNP A A G novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_019589.2 +1 validated p.K331 0.995 136 0% 128 16.4% 9 33.3% - - - NULL GPR65 8477 genome.wustl.edu 37 14 88477299 88477299 + Silent SNP G G C novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_003608.3 +1 validated p.L36 0.012 172 0% 88 39.8% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like ZC3H14 79882 genome.wustl.edu 37 14 89039312 89039312 + Silent SNP T T C novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_024824.4 +1 validated p.S274 0.778 74 0% 88 21.6% 18 5.5% - - - NULL C14orf159 80017 genome.wustl.edu 37 14 91647593 91647593 + Missense_Mutation SNP A A G novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_001102368.1 +1 validated p.K265R 0.000 101 0% 92 23.9% 15 13.3% benign(0.001) tolerated(0.49) neutral(0.011) NULL SLC24A4 123041 genome.wustl.edu 37 14 92909789 92909789 + Missense_Mutation SNP T T C novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_153646.2 +1 validated p.Y193H 1.000 169 0% 106 37.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Na_Ca_ex ENSG00000216173 0 genome.wustl.edu 37 14 99828698 99828699 + RNA DEL CA CA - novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 CA CA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 ENST00000401354 +1 novel NULL 0.002:0.000 - - - - - - - - - - PPP2R5C 5527 genome.wustl.edu 37 14 102391575 102391575 + Missense_Mutation SNP G G T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_002719.3 +1 reviewed p.R514M 1.000 34 0% 63 27% 15 26.6% probably_damaging(1) deleterious(0) deleterious(0.945) NULL DYNC1H1 1778 genome.wustl.edu 37 14 102510336 102510336 + Missense_Mutation SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_001376.4 +1 reviewed p.R4213Q 1.000 61 0% 60 13.3% 113 15.9% possibly_damaging(0.476) tolerated(0.15) neutral(0.398) HMMPfam_Dynein_heavy KIF26A 26153 genome.wustl.edu 37 14 104643650 104643650 + Missense_Mutation SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_015656.1 +1 validated p.R1509W 0.064 22 0% 47 17% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL KIAA0284 283638 genome.wustl.edu 37 14 105356002 105356002 + Missense_Mutation SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_001112726.1 +1 validated p.R1262Q 0.283 48 0% 82 56.1% 15 46.6% benign(0.005) tolerated(0.76) neutral(0.001) NULL ENSG00000215407 0 genome.wustl.edu 37 15 20462603 20462603 + Missense_Mutation SNP G G A rs2880572 byCluster;byFrequency;by2Hit2Allele;byHapMap TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 ENST00000400226 -1 known p.T147M 1.000 40 0% 38 21.1% 0 - - - - HMMPfam_BRO1 TUBGCP5 114791 genome.wustl.edu 37 15 22863095 22863095 + Missense_Mutation SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_001102610.1 +1 validated p.L706F 1.000 180 0% 195 44.1% 3 0% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Spc97_Spc98 TUBGCP5 114791 genome.wustl.edu 37 15 22864242 22864242 + Missense_Mutation SNP A A G novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_001102610.1 +1 validated p.T734A 1.000 148 0% 183 10.9% 5 40% benign(0.198) tolerated(0.44) neutral(0.032) HMMPfam_Spc97_Spc98 NDN 4692 genome.wustl.edu 37 15 23931620 23931620 + Missense_Mutation SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_002487.2 -1 reviewed p.R249C 0.995 18 0% 30 50% 3 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_MAGE C15orf2 23742 genome.wustl.edu 37 15 24921405 24921405 + Missense_Mutation SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_018958.2 +1 reviewed p.R131C 0.000 10 0% 45 31.1% 0 - possibly_damaging(0.598) deleterious(0.02) deleterious(0.590) NULL OCA2 4948 genome.wustl.edu 37 15 28096615 28096615 + Missense_Mutation SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_000275.2 -1 reviewed p.V751M 0.999 45 0% 28 42.9% 1 100% possibly_damaging(0.935) deleterious(0.01) deleterious(0.786) HMMPfam_CitMHS PAK6 56924 genome.wustl.edu 37 15 40568282 40568282 + Missense_Mutation SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_001128628.1 +1 reviewed p.T678I 1.000 64 0% 126 14.3% 25 8% possibly_damaging(0.452) deleterious(0.01) deleterious(0.553) NULL VPS18 57617 genome.wustl.edu 37 15 41192193 41192193 + Missense_Mutation SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_020857.2 +1 reviewed p.R393W 1.000 33 0% 48 20.8% 14 7.1% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_Pep3_Vps18 TMEM87A 25963 genome.wustl.edu 37 15 42520966 42520966 + Missense_Mutation SNP A A G novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_015497.3 -1 validated p.I395T 1.000 178 0% 152 19.1% 34 17.6% benign(0) tolerated(0.25) neutral(0.037) HMMPfam_Lung_7-TM_R STARD9 57519 genome.wustl.edu 37 15 42985815 42985815 + Silent SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 XM_001129482.3 +1 model p.S3927 0.020 52 0% 30 63.3% 0 - - - - NULL TGM5 9333 genome.wustl.edu 37 15 43544974 43544974 + Missense_Mutation SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_201631.3 -1 reviewed p.A282V 1.000 51 0% 44 34.1% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Transglut_core,HMMSmart_SM00460,PatternScan_TRANSGLUTAMINASES,superfamily_Cysteine proteinases TGM5 9333 genome.wustl.edu 37 15 43545052 43545052 + Missense_Mutation SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_201631.3 -1 reviewed p.T256M 0.031 58 0% 50 42% 4 50% benign(0.028) tolerated(0.14) neutral(0.251) superfamily_Cysteine proteinases TMOD2 29767 genome.wustl.edu 37 15 52066008 52066008 + Missense_Mutation SNP A A G novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_014548.3 +1 reviewed p.D128G 1.000 118 0% 76 22.4% 1 100% possibly_damaging(0.52) deleterious(0) deleterious(0.619) HMMPfam_Tropomodulin IGDCC3 9543 genome.wustl.edu 37 15 65623542 65623542 + Silent SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_004884.3 -1 validated p.E469 1.000 44 0% 100 34% 0 - - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III NEO1 4756 genome.wustl.edu 37 15 73562474 73562474 + Missense_Mutation SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_002499.3 +1 validated p.T873M 0.998 119 0% 71 39.4% 13 61.5% probably_damaging(0.996) tolerated(0.2) deleterious(0.511) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III STOML1 9399 genome.wustl.edu 37 15 74277673 74277673 + Missense_Mutation SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_004809.3 -1 provisional p.P259L 0.000 18 0% 32 40.6% 10 20% benign(0.347) deleterious(0.01) deleterious(0.516) NULL FBXO22 26263 genome.wustl.edu 37 15 76225330 76225330 + Missense_Mutation SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_147188.1 +1 reviewed p.R367W 1.000 300 0% 284 42.6% 10 20% probably_damaging(1) deleterious(0) deleterious(0.945) NULL IL16 3603 genome.wustl.edu 37 15 81517983 81517983 + Silent SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_172217.3 +1 reviewed p.S81 0.009 58 0% 19 52.6% 0 - - - - NULL AGBL1 123624 genome.wustl.edu 37 15 86822924 86822924 + Nonsense_Mutation SNP C C A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_152336.2 +1 validated p.Y664* 0.813 195 0% 117 47.9% 0 - - - - NULL HAPLN3 145864 genome.wustl.edu 37 15 89430462 89430462 + Missense_Mutation SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_178232.2 -1 reviewed p.G23D 1.000 148 0% 188 43.6% 15 53.3% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL FAM149B2 100113400 genome.wustl.edu 37 15 97301301 97301301 + Missense_Mutation SNP C C A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 ENST00000398303 +1 known p.P201H 0.361 121 0% 240 17.1% 0 - - - - NULL TM2D3 80213 genome.wustl.edu 37 15 102186948 102186948 + Missense_Mutation SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_078474.2 -1 reviewed p.R161Q 1.000 90 0% 128 48.4% 71 40.8% possibly_damaging(0.833) tolerated(0.35) neutral(0.338) NULL PIGQ 9091 genome.wustl.edu 37 16 630240 630240 + Missense_Mutation SNP C C A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_148920.1 +1 reviewed p.L465M 1.000 237 0% 369 13.3% 28 14.2% probably_damaging(0.999) tolerated(0.06) deleterious(0.813) NULL UBE2I 7329 genome.wustl.edu 37 16 1370636 1370636 + Silent SNP C C A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 ENST00000402301 +1 known p.L177 0.000 18 0% 24 45.8% 0 - - - - NULL MSRB1 51734 genome.wustl.edu 37 16 1990901 1990901 + Silent SNP G G T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 ENST00000399753 -1 known p.I187 0.001 40 0% 71 23.9% 0 - - - - NULL E4F1 1877 genome.wustl.edu 37 16 2285339 2285339 + Silent SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_004424.3 +1 reviewed p.A707 0.000 9 0.000 10 0.600 42 42.8% - - - NULL THOC6 79228 genome.wustl.edu 37 16 3077461 3077461 + Missense_Mutation SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_024339.3 +1 validated p.S302N 0.995 39 0% 56 21.4% 80 16.2% possibly_damaging(0.944) deleterious(0.01) deleterious(0.794) superfamily_WD40 repeat-like ROGDI 79641 genome.wustl.edu 37 16 4848631 4848631 + Missense_Mutation SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_024589.1 -1 provisional p.R157Q 1.000 57 0% 108 23.1% 32 15.6% probably_damaging(1) tolerated(0.13) deleterious(0.752) HMMPfam_Rogdi_lz ACSM3 6296 genome.wustl.edu 37 16 20803422 20803422 + Silent SNP A A G novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_005622.3 +1 validated p.A475 1.000 368 0% 254 26% 35 28.5% - - - HMMPfam_AMP-binding,superfamily_Acetyl-CoA synthetase-like EEF2K 29904 genome.wustl.edu 37 16 22291547 22291547 + Missense_Mutation SNP T T C novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_013302.3 +1 reviewed p.W640R 1.000 127 0% 52 9.6% 11 9% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF81901 RRN3P2 653390 genome.wustl.edu 37 16 29110458 29110458 + Missense_Mutation SNP T T C novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 ENST00000427965 +1 known p.W375R 0.991 45 2.2% 113 42.5% 0 - benign(0) tolerated(1) - HMMPfam_RRN3 ZNF48 197407 genome.wustl.edu 37 16 30409830 30409830 + Missense_Mutation SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_152652.1 +1 provisional p.S420L 0.186 10 0% 30 40% 18 55.5% possibly_damaging(0.883) deleterious(0.01) deleterious(0.750) NULL KAT8 84148 genome.wustl.edu 37 16 31141378 31141378 + Missense_Mutation SNP T T A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_182958.2 +1 validated p.L271Q 1.000 93 0% 185 42.2% 58 31% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_MOZ_SAS,superfamily_Acyl-CoA N-acyltransferases (Nat) ENSG00000198555 0 genome.wustl.edu 37 16 33784703 33784703 + Missense_Mutation SNP A A G novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 ENST00000359871 +1 known p.N496S 0.989 62 0% 118 18.6% 0 - benign(0.29) tolerated(0.07) neutral(0.408) HMMPfam_SNF ABCC12 94160 genome.wustl.edu 37 16 48138090 48138090 + Missense_Mutation SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_033226.2 -1 reviewed p.V955M 0.606 162 0% 132 40.9% 0 - possibly_damaging(0.539) tolerated(0.05) deleterious(0.528) HMMPfam_ABC_membrane,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain TOX3 27324 genome.wustl.edu 37 16 52484431 52484431 + Missense_Mutation SNP A A G novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_001080430.2 -1 reviewed p.Y146H 1.000 131 0% 58 39.7% 9 44.4% possibly_damaging(0.485) deleterious(0.01) deleterious(0.567) NULL CDH11 1009 genome.wustl.edu 37 16 64981772 64981772 + Missense_Mutation SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_001797.2 -1 reviewed p.R709W 0.957 131 0% 126 38.1% 5 0% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_Cadherin_C LRRC29 26231 genome.wustl.edu 37 16 67244007 67244007 + Missense_Mutation SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_001004055.1 -1 reviewed p.H29Y 0.000 29 0% 43 18.6% 3 0% benign(0.202) tolerated(0.07) neutral(0.339) superfamily_RNI-like CTCF 10664 genome.wustl.edu 37 16 67646007 67646007 + Missense_Mutation SNP A A G novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_006565.2 +1 reviewed p.H312R 1.000 78 0% 53 34% 33 39.3% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers C16orf86 388284 genome.wustl.edu 37 16 67701400 67701400 + Missense_Mutation SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_001012984.2 +1 validated p.R102C 0.797 10 0% 27 40.7% 2 0% benign(0.393) tolerated(0.09) neutral(0.422) NULL NFAT5 10725 genome.wustl.edu 37 16 69726422 69726422 + Silent SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_138713.2 +1 reviewed p.Q898 0.988 81 0% 61 36.1% 1 0% - - - NULL VAT1L 57687 genome.wustl.edu 37 16 77910274 77910274 + Missense_Mutation SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_020927.1 +1 provisional p.A244T 0.999 267 0% 234 37.2% 0 - benign(0) tolerated(0.08) neutral(0.300) HMMPfam_ADH_zinc_N,superfamily_NAD(P)-bd KIAA0182 23199 genome.wustl.edu 37 16 85694951 85694951 + Missense_Mutation SNP C C A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_014615.2 +1 validated p.P614T 1.000 10 0.000 7 0.714 9 55.5% possibly_damaging(0.811) tolerated(0.15) deleterious(0.546) NULL FBXO31 79791 genome.wustl.edu 37 16 87365085 87365085 + Missense_Mutation SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_024735.3 -1 validated p.G477S 1.000 45 0% 57 54.4% 11 54.5% probably_damaging(1) deleterious(0.03) deleterious(0.865) NULL SLC7A5 8140 genome.wustl.edu 37 16 87873425 87873425 + Silent SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_003486.5 -1 validated p.L274 1.000 83 0% 184 38.6% 7 0% - - - HMMPfam_AA_permease ANKRD11 29123 genome.wustl.edu 37 16 89337295 89337295 + Missense_Mutation SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_013275.4 -1 validated p.R2579H 0.994 67 0% 95 41.1% 18 38.8% probably_damaging(1) deleterious(0) deleterious(0.945) NULL SPG7 6687 genome.wustl.edu 37 16 89590264 89590264 + Silent SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 ENST00000312632 +1 known p.N54 0.001 20 0% 26 57.7% 6 33.3% - - - NULL GEMIN4 50628 genome.wustl.edu 37 17 648294 648296 + In_Frame_Del DEL CCT CCT - novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 CCT CCT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_015721.2 -1 reviewed p.E996in_frame_del 1.000:1.000:0.997 - - - - - - - - - NULL SLC43A2 124935 genome.wustl.edu 37 17 1520058 1520058 + Missense_Mutation SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_152346.1 -1 provisional p.V56I 0.440 60 0% 71 60.6% 5 0% benign(0) tolerated(0.43) neutral(0.013) HMMPfam_MFS_1,superfamily_MFS general substrate transporter MNT 4335 genome.wustl.edu 37 17 2298309 2298309 + Silent SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_020310.2 -1 reviewed p.T171 0.823 29 0% 90 11.1% 1 0% - - - NULL ATP2A3 489 genome.wustl.edu 37 17 3853989 3853989 + Missense_Mutation SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_174953.1 -1 reviewed p.T181M 1.000 83 0% 177 38.4% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_E1-E2_ATPase,superfamily_Calcium ATPase transduction domain A,superfamily_Calcium ATPase transmembrane domain M USP6 9098 genome.wustl.edu 37 17 5073780 5073782 + In_Frame_Del DEL CTT CTT - novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 CTT CTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_004505.2 +1 validated p.S1178in_frame_del 1.000:1.000:1.000 - - - - - - - - - HMMPfam_UCH,superfamily_Cysteine proteinases DNAH2 146754 genome.wustl.edu 37 17 7719940 7719940 + Nonsense_Mutation SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_020877.2 +1 validated p.Q3261* 0.995 150 0% 145 41.4% 0 - - - - NULL CTC1 80169 genome.wustl.edu 37 17 8138577 8138577 + Silent SNP T T C novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_025099.5 -1 validated p.S411 0.557 28 0% 29 17.2% 9 77.7% - - - NULL MYH3 4621 genome.wustl.edu 37 17 10551927 10551927 + Silent SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_002470.2 -1 reviewed p.L228 1.000 204 0% 156 39.7% 1 0% - - - HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540 PMP22 5376 genome.wustl.edu 37 17 15134375 15134375 + Silent SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_000304.2 -1 reviewed p.A114 0.073 33 0% 25 44% 6 0% - - - HMMPfam_PMP22_Claudin FLCN 201163 genome.wustl.edu 37 17 17125821 17125821 + Missense_Mutation SNP A A G novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_144997.5 -1 reviewed p.F258S 1.000 104 0% 164 14% 14 7.1% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL TOP3A 7156 genome.wustl.edu 37 17 18181143 18181143 + Silent SNP A A G novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_004618.3 -1 reviewed p.S891 0.000 42 0% 34 11.8% 12 33.3% - - - NULL FAM83G 644815 genome.wustl.edu 37 17 18874804 18874804 + Silent SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_001039999.2 -1 validated p.P780 0.000 80 0% 137 40.1% 6 50% - - - NULL LGALS9 3965 genome.wustl.edu 37 17 25972346 25972346 + Missense_Mutation SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_009587.2 +1 reviewed p.G183S 0.001 682 0% 797 22.8% 22 18.1% benign(0.052) tolerated(0.08) neutral(0.303) NULL SUPT6H 6830 genome.wustl.edu 37 17 27011678 27011678 + Silent SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_003170.3 +1 validated p.D768 0.988 225 0.4% 159 43.4% 17 29.4% - - - NULL ASIC2 40 genome.wustl.edu 37 17 31341017 31341017 + Missense_Mutation SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_183377.1 -1 reviewed p.T553M 1.000 232 0% 258 44.6% 0 - probably_damaging(0.973) deleterious(0.03) deleterious(0.779) NULL STAC2 342667 genome.wustl.edu 37 17 37371448 37371448 + Missense_Mutation SNP G G T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_198993.3 -1 validated p.L208M 1.000 156 0% 217 44.7% 11 36.3% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL CDK12 51755 genome.wustl.edu 37 17 37682432 37682433 + Frame_Shift_Del DEL AT AT - novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 AT AT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_016507.2 +1 validated p.L1210fs 1.000:1.000 - - - - - - - - - NULL CASC3 22794 genome.wustl.edu 37 17 38320408 38320408 + Missense_Mutation SNP G G T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_007359.4 +1 reviewed p.R487L 0.981 39 0% 29 41.4% 23 39.1% probably_damaging(0.979) deleterious(0) deleterious(0.867) NULL TUBG1 7283 genome.wustl.edu 37 17 40765676 40765676 + Silent SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_001070.4 +1 reviewed p.D206 1.000 203 0% 306 40.2% 109 38.5% - - - HMMPfam_Tubulin,superfamily_Tubulin nucleotide-binding domain-like DUSP3 1845 genome.wustl.edu 37 17 41847097 41847097 + Silent SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_004090.3 -1 reviewed p.D146 0.271 116 0% 82 50% 20 50% - - - HMMPfam_DSPc,HMMSmart_SM00195,superfamily_(Phosphotyrosine protein) phosphatases II HDAC5 10014 genome.wustl.edu 37 17 42170788 42170788 + Silent SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_001015053.1 -1 reviewed p.E141 1.000 13 0% 32 28.1% 10 10% - - - NULL KIF18B 146909 genome.wustl.edu 37 17 43011339 43011339 + Silent SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_001080443.1 -1 provisional p.T338 0.028 178 0.6% 193 13.5% 2 0% - - - HMMPfam_Kinesin,HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases LRRC59 55379 genome.wustl.edu 37 17 48462638 48462638 + Missense_Mutation SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_018509.3 -1 validated p.R173C 1.000 139 0% 161 44.1% 65 47.6% possibly_damaging(0.693) tolerated(0.09) deleterious(0.544) NULL TOM1L1 10040 genome.wustl.edu 37 17 53026968 53026968 + Silent SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_005486.2 +1 validated p.L424 0.927 184 0% 127 48.8% 104 40.3% - - - NULL CUEDC1 404093 genome.wustl.edu 37 17 55962774 55962774 + Missense_Mutation SNP A A G novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_017949.1 -1 provisional p.M51T 1.000 20 0% 19 31.6% 18 50% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_CUE,HMMSmart_SM00546,superfamily_UBA-like EPX 8288 genome.wustl.edu 37 17 56270882 56270882 + Silent SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_000502.4 +1 reviewed p.Q107 0.000 82 0% 110 40.9% 0 - - - - NULL GDPD1 284161 genome.wustl.edu 37 17 57350178 57350178 + Missense_Mutation SNP T T C novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_182569.3 +1 validated p.L268P 1.000 293 0% 311 35.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_GDPD,superfamily_PLC-like phosphodiesterases CLTC 1213 genome.wustl.edu 37 17 57760478 57760478 + Missense_Mutation SNP T T C novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_004859.3 +1 reviewed p.L1299P 1.000 159 0% 84 36.9% 103 27.1% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Clathrin,HMMSmart_SM00299,superfamily_ARM repeat TBX4 9496 genome.wustl.edu 37 17 59534942 59534944 + In_Frame_Del DEL GAA GAA - novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 GAA GAA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_018488.2 +1 reviewed p.K79in_frame_del 1.000:1.000:1.000 - - - - - - - - - HMMPfam_T-box,HMMSmart_TBOX,superfamily_P53_like_DNA_bnd,PatternScan_TBOX_1 MRC2 9902 genome.wustl.edu 37 17 60767290 60767290 + Silent SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_006039.3 +1 validated p.P1203 0.006 16 0% 27 55.6% 3 33.3% - - - HMMPfam_Lectin_C,HMMSmart_SM00034,superfamily_C-type lectin-like TANC2 26115 genome.wustl.edu 37 17 61498755 61498755 + Silent SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_025185.3 +1 validated p.S1804 0.002 91 0% 127 37.8% 0 - - - - NULL CCDC47 57003 genome.wustl.edu 37 17 61833606 61833606 + Silent SNP A A G novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_020198.2 -1 validated p.D314 1.000 165 0% 127 43.3% 58 50% - - - HMMPfam_DUF1682 SDK2 54549 genome.wustl.edu 37 17 71431726 71431726 + Missense_Mutation SNP T T C novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_001144952.1 -1 provisional p.K353R 0.996 55 0% 47 55.3% 0 - benign(0) tolerated(0.59) neutral(0.004) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin SLC16A5 9121 genome.wustl.edu 37 17 73102082 73102082 + Missense_Mutation SNP T T C novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_004695.2 +1 provisional p.V491A 0.022 59 0% 62 41.9% 10 20% unknown(0) - - NULL UNK 85451 genome.wustl.edu 37 17 73814743 73814743 + Silent SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_001080419.1 +1 provisional p.P540 0.719 130 0% 224 43.8% 14 57.1% - - - NULL FBF1 85302 genome.wustl.edu 37 17 73914245 73914245 + Silent SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_001080542.1 -1 provisional p.T733 0.004 72 0% 89 41.6% 4 50% - - - NULL CARD14 79092 genome.wustl.edu 37 17 78166360 78166360 + Missense_Mutation SNP G G T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_024110.2 +1 reviewed p.R433L 0.799 38 0% 32 46.9% 3 33.3% probably_damaging(1) tolerated(0.27) deleterious(0.533) NULL SLC26A11 284129 genome.wustl.edu 37 17 78195577 78195577 + Missense_Mutation SNP C C A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_173626.3 +1 reviewed p.A73D 1.000 21 0% 52 42.3% 2 100% probably_damaging(1) deleterious(0) deleterious(0.945) NULL BAHCC1 57597 genome.wustl.edu 37 17 79411842 79411842 + Silent SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_001080519.2 +1 inferred p.P832S 1.000 59 0% 108 49.1% 1 100% - - - NULL BAHCC1 57597 genome.wustl.edu 37 17 79428758 79428758 + Silent SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_001080519.2 +1 inferred p.A2301V 0.999 12 0% 21 57.1% 15 26.6% - - - NULL GCGR 2642 genome.wustl.edu 37 17 79769574 79769574 + Silent SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 ENST00000400723 +1 known p.I235 0.197 86 0% 88 21.6% 2 0% - - - HMMPfam_7tm_2,superfamily_SSF81321 NARF 26502 genome.wustl.edu 37 17 80443395 80443395 + Missense_Mutation SNP A A G novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_012336.3 +1 reviewed p.T332A 0.999 99 0% 154 42.2% 110 51.8% benign(0.212) tolerated(0.12) neutral(0.281) HMMPfam_Fe_hyd_lg_C,superfamily_Fe-only hydrogenase COLEC12 81035 genome.wustl.edu 37 18 335166 335166 + Silent SNP G G T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_130386.2 -1 validated p.G464 0.881 9 0.000 15 0.600 1 100% - - - NULL SOGA2 23255 genome.wustl.edu 37 18 8819197 8819197 + Silent SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_015210.3 +1 predicted p.D1032 0.104 44 0% 38 34.2% 0 - - - - NULL SLC35G4 646000 genome.wustl.edu 37 18 11644377 11644377 + Missense_Mutation SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 ENST00000424015 +1 known p.A190T 0.147 57 0% 87 23% 0 - - - - NULL DTNA 1837 genome.wustl.edu 37 18 32391970 32391970 + Nonsense_Mutation SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_001390.4 +1 reviewed p.R166* 0.943 167 0% 78 32.1% 0 - - - - HMMPfam_efhand_2,superfamily_EF-hand CCDC11 220136 genome.wustl.edu 37 18 47778081 47778081 + Frame_Shift_Del DEL G G - novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_145020.3 -1 validated p.Q183fs 1.000 - - - - - - - - - NULL DCC 1630 genome.wustl.edu 37 18 50731695 50731695 + Silent SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_005215.3 +1 reviewed p.Y561 1.000 139 0% 91 36.3% 0 - - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III TCF4 6925 genome.wustl.edu 37 18 52896248 52896248 + Missense_Mutation SNP C C A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_001083962.1 -1 reviewed p.R570M 1.000 147 0% 76 17.1% 3 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HLH,superfamily_HLH_basic ONECUT2 9480 genome.wustl.edu 37 18 55103932 55103932 + Silent SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_004852.2 +1 reviewed p.G328 0.915 36 0% 40 47.5% 0 - - - - HMMPfam_CUT TMX3 54495 genome.wustl.edu 37 18 66350220 66350220 + Splice_Site SNP T T C novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_019022.3 -1 validated e13-2 0.998 178 0% 177 13% 0 - - - - - ZNF236 7776 genome.wustl.edu 37 18 74607235 74607235 + Missense_Mutation SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_007345.3 +1 validated p.H560Y 1.000 30 0% 20 45% 1 0% probably_damaging(0.996) deleterious(0.02) deleterious(0.845) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers NFATC1 4772 genome.wustl.edu 37 18 77193714 77193714 + Silent SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_172387.1 +1 reviewed p.S441 0.000 27 0% 39 15.4% 4 0% - - - superfamily_p53-like transcription factors,HMMPfam_RHD POLRMT 5442 genome.wustl.edu 37 19 619741 619741 + Missense_Mutation SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_005035.3 -1 reviewed p.A971T 1.000 52 0% 61 32.8% 35 45.7% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RNA_pol,superfamily_SSF56672 ABCA7 10347 genome.wustl.edu 37 19 1055305 1055305 + Missense_Mutation SNP T T C novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_019112.3 +1 reviewed p.L1387P 1.000 8 0.000 12 0.500 0 - possibly_damaging(0.609) deleterious(0) deleterious(0.655) NULL ABCA7 10347 genome.wustl.edu 37 19 1056334 1056334 + Nonsense_Mutation SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_019112.3 +1 reviewed p.W1474* 1.000 133 0% 197 12.2% 3 0% - - - NULL GPX4 2879 genome.wustl.edu 37 19 1105758 1105758 + Silent SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_001039848.1 +1 reviewed p.P179 0.380 52 0% 105 41% 888 44.2% - - - HMMPfam_GSHPx,superfamily_Thioredoxin-like ANKRD24 170961 genome.wustl.edu 37 19 4216856 4216856 + Missense_Mutation SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_133475.1 +1 provisional p.A567T 0.000 29 3.4% 56 37.5% 3 66.6% benign(0.008) tolerated(0.15) neutral(0.241) NULL DPP9 91039 genome.wustl.edu 37 19 4676657 4676658 + Frame_Shift_Ins INS - - T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_139159.4 -1 reviewed p.N866fs 0.914:1.000 - - - - - - - - - HMMPfam_Peptidase_S9,superfamily_SSF53474 PRR22 163154 genome.wustl.edu 37 19 5783262 5783262 + Silent SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_001134316.1 -1 validated p.P332 0.003 15 0% 35 17.1% 19 5.2% - - - NULL INSR 3643 genome.wustl.edu 37 19 7132248 7132248 + Silent SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_000208.2 -1 reviewed p.Y921 1.000 63 0% 51 51% 8 12.5% - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III MYO1F 4542 genome.wustl.edu 37 19 8609298 8609298 + Silent SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_012335.3 -1 validated p.H469 0.993 29 0% 40 47.5% 1 100% - - - HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases MUC16 94025 genome.wustl.edu 37 19 9017437 9017437 + Missense_Mutation SNP C C A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_024690.2 -1 validated p.R12629S 0.000 419 0% 191 27.7% 0 - probably_damaging(0.989) - - HMMPfam_SEA,superfamily_SEA domain RDH8 50700 genome.wustl.edu 37 19 10127741 10127741 + Missense_Mutation SNP A A G novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_015725.2 +1 validated p.T38A 1.000 70 0% 105 38.1% 0 - possibly_damaging(0.91) deleterious(0) deleterious(0.807) HMMPfam_adh_short,superfamily_NAD(P)-bd RAVER1 125950 genome.wustl.edu 37 19 10433411 10433411 + Silent SNP G G C novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_133452.2 -1 validated p.L378 1.000 38 0% 78 50% 53 45.2% - - - NULL DOCK6 57572 genome.wustl.edu 37 19 11323976 11323976 + Missense_Mutation SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_020812.2 -1 validated p.T1456M 1.000 31 3.2% 56 42.9% 6 33.3% probably_damaging(0.983) deleterious(0.04) deleterious(0.778) NULL ZNF440 126070 genome.wustl.edu 37 19 11943099 11943099 + Missense_Mutation SNP T T C novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_152357.2 +1 validated p.C370R 0.422 86 0% 116 27.6% 6 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 KLF1 10661 genome.wustl.edu 37 19 12995838 12995838 + Missense_Mutation SNP C C A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_006563.3 -1 reviewed p.G317V 1.000 42 0% 54 16.7% 0 - probably_damaging(0.99) deleterious(0.02) deleterious(0.825) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 SYCE2 256126 genome.wustl.edu 37 19 13011305 13011305 + Missense_Mutation SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_001105578.1 -1 validated p.T155I 0.498 136 0% 199 45.2% 2 50% probably_damaging(0.999) tolerated(0.26) deleterious(0.524) NULL RFX1 5989 genome.wustl.edu 37 19 14076525 14076525 + Missense_Mutation SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_002918.4 -1 validated p.V676M 0.931 101 0% 150 41.3% 12 50% possibly_damaging(0.646) deleterious(0.02) deleterious(0.610) NULL CPAMD8 27151 genome.wustl.edu 37 19 17056434 17056434 + Silent SNP T T C novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 ENST00000443236 -1 known p.N964S 0.044 156 0% 96 40.6% 0 - - - - NULL MYO9B 4650 genome.wustl.edu 37 19 17273273 17273273 + Silent SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_004145.3 +1 reviewed p.V511 0.989 45 0% 43 9.3% 5 20% - - - HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540 CRLF1 9244 genome.wustl.edu 37 19 18709684 18709684 + Missense_Mutation SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_004750.4 -1 reviewed p.S142N 1.000 111 0% 198 41.9% 0 - benign(0.27) deleterious(0.01) neutral(0.435) HMMSmart_FN3,superfamily_FN_III-like,HMMPfam_EpoR_lig-bind RFXANK 8625 genome.wustl.edu 37 19 19308390 19308390 + Missense_Mutation SNP C C G novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_003721.2 +1 reviewed p.A133G 0.998 24 0% 38 47.4% 80 43.7% probably_damaging(0.999) tolerated(0.06) deleterious(0.813) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat SUGP1 57794 genome.wustl.edu 37 19 19390032 19390032 + Missense_Mutation SNP A A T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_172231.2 -1 validated p.D506E 1.000 64 0% 77 28.6% 45 15.5% benign(0.075) tolerated(1) neutral(0.005) NULL ZNF431 170959 genome.wustl.edu 37 19 21366640 21366640 + Missense_Mutation SNP T T C novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_133473.2 +1 validated p.Y512H 0.140 93 0% 126 32.5% 2 50% possibly_damaging(0.464) deleterious(0.02) deleterious(0.535) HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers LOC646864 646864 genome.wustl.edu 37 19 23039923 23039923 + Missense_Mutation SNP T T C novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 XM_001726885.1 +1 model p.V106A 0.539 28 0% 84 47.6% 0 - - - - NULL TSHZ3 57616 genome.wustl.edu 37 19 31768041 31768041 + Silent SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_020856.2 -1 validated p.T886 0.197 57 0% 48 50% 3 0% - - - superfamily_Homeodomain_like KIAA0355 9710 genome.wustl.edu 37 19 34838839 34838839 + Missense_Mutation SNP A A G novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_014686.3 +1 validated p.Q860R 1.000 33 0% 61 14.8% 3 0% benign(0.134) deleterious(0) neutral(0.456) NULL KIAA0355 9710 genome.wustl.edu 37 19 34839996 34839996 + Silent SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_014686.3 +1 validated p.N921 0.071 81 0% 144 48.6% 12 41.6% - - - NULL UBA2 10054 genome.wustl.edu 37 19 34919391 34919391 + Silent SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_005499.2 +1 validated p.G18 1.000 3 0.000 15 0.467 6 33.3% - - - HMMPfam_ThiF,superfamily_MoeB FXYD3 5349 genome.wustl.edu 37 19 35612132 35612132 + Missense_Mutation SNP A A T rs117868611 byFrequency;by1000genomes TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_001136007.1 +1 reviewed p.N84I 0.999 155 0% 261 21.1% 375 9.3% possibly_damaging(0.907) deleterious(0) deleterious(0.805) HMMPfam_ATP1G1_PLM_MAT8 MLL4 9757 genome.wustl.edu 37 19 36210721 36210722 + Frame_Shift_Ins INS - - CGAC novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_014727.1 +1 reviewed p.P160fs 1.000:1.000 - - - - - - - - - NULL MLL4 9757 genome.wustl.edu 37 19 36213980 36213980 + Missense_Mutation SNP T T C novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_014727.1 +1 reviewed p.S936P 0.981 37 0% 71 35.2% 3 33.3% possibly_damaging(0.727) - - NULL U2AF1L4 199746 genome.wustl.edu 37 19 36234588 36234591 + Frame_Shift_Del DEL AAAA AAAA - novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 AAAA AAAA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 ENST00000392196 -1 known p.F113fs 0.001:0.001:0.000:0.000 - - - - - - - - - NULL KIRREL2 84063 genome.wustl.edu 37 19 36352819 36352819 + Missense_Mutation SNP T T C novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_199180.2 +1 validated p.V468A 1.000 95 0% 168 11.3% 0 - possibly_damaging(0.577) tolerated(0.05) deleterious(0.543) HMMSmart_SM00409,superfamily_Immunoglobulin WDR62 284403 genome.wustl.edu 37 19 36592647 36592647 + Missense_Mutation SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_001083961.1 +1 validated p.R1018Q 0.000 26 0% 33 54.5% 6 16.6% benign(0.005) tolerated(0.59) neutral(0.004) NULL WDR87 83889 genome.wustl.edu 37 19 38385088 38385088 + Missense_Mutation SNP G G T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_031951.3 -1 provisional p.P380T 0.970 85 0% 49 16.3% 0 - possibly_damaging(0.618) - - superfamily_WD40 repeat-like SIPA1L3 23094 genome.wustl.edu 37 19 38655539 38655539 + Nonsense_Mutation SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_015073.1 +1 validated p.Q1401* 0.979 7 0.000 10 0.400 12 16.6% - - - NULL RYR1 6261 genome.wustl.edu 37 19 38993282 38993282 + Missense_Mutation SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_000540.2 +1 reviewed p.H2584Y 1.000 41 0% 58 32.8% 1 0% possibly_damaging(0.947) - - NULL PLEKHG2 64857 genome.wustl.edu 37 19 39914802 39914802 + Missense_Mutation SNP A A G novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_022835.2 +1 validated p.H1010R 0.000 133 0% 255 15.3% 13 15.3% benign(0.056) deleterious(0) neutral(0.448) NULL SUPT5H 6829 genome.wustl.edu 37 19 39950569 39950569 + Missense_Mutation SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_001111020.2 +1 validated p.R198H 1.000 170 0% 115 54.8% 44 52.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00738 HIPK4 147746 genome.wustl.edu 37 19 40885494 40885494 + Nonstop_Mutation SNP T T C novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_144685.3 -1 provisional p.*617W 0.986 86 0% 114 45.6% 0 - - - - NULL ARHGEF1 9138 genome.wustl.edu 37 19 42396732 42396732 + Silent SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_199002.1 +1 reviewed p.V157 1.000 31 0% 53 22.6% 29 10.3% - - - HMMPfam_RGS-like,superfamily_Regulat_G_prot_signal_superfam ZNF223 7766 genome.wustl.edu 37 19 44571308 44571308 + Missense_Mutation SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_013361.4 +1 validated p.R443C 0.123 81 0% 83 44.6% 1 0% benign(0.004) tolerated(0.07) neutral(0.319) HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers RELB 5971 genome.wustl.edu 37 19 45535973 45535973 + Silent SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_006509.2 +1 validated p.E391 1.000 64 0% 86 44.2% 30 33.3% - - - HMMPfam_TIG,HMMSmart_IPT,superfamily_Ig_E-set ERCC1 2067 genome.wustl.edu 37 19 45924540 45924540 + Missense_Mutation SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_202001.2 -1 reviewed p.G73R 0.499 99 0% 171 36.3% 108 25.9% benign(0.299) tolerated(0.53) neutral(0.100) NULL DMPK 1760 genome.wustl.edu 37 19 46280645 46280645 + Silent SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_001081563.1 -1 reviewed p.T372 0.001 19 0% 30 36.7% 12 41.6% - - - HMMSmart_SM00133,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase_C ARHGAP35 2909 genome.wustl.edu 37 19 47421991 47421991 + Missense_Mutation SNP G G T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_004491.4 +1 reviewed p.G20V 1.000 193 0% 91 50.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL LOC100287338 100287338 genome.wustl.edu 37 19 47844752 47844752 + Missense_Mutation SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 XM_002343689.1 -1 model p.P84S 0.002 34 0% 78 19.2% 2 0% - - - NULL LMTK3 114783 genome.wustl.edu 37 19 49001863 49001863 + Silent SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_001080434.1 -1 provisional p.P850 0.166 6 0.000 9 0.444 7 57.1% - - - HMMSmart_SM00220 RPL18 6141 genome.wustl.edu 37 19 49119901 49119905 + Frame_Shift_Del DEL CAGCA CAGCA - rs111332848 TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 CAGCA CAGCA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 ENST00000450952 -1 known p.V125fs 0.000:0.000:0.000:0.000:0.000 - - - - - - - - - NULL NTN5 126147 genome.wustl.edu 37 19 49167915 49167915 + Silent SNP A A C novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_145807.1 -1 provisional p.A247 0.003 36 0% 53 34% 2 50% - - - HMMPfam_Laminin_EGF,HMMSmart_SM00180,PatternScan_EGF_LAM_1,superfamily_EGF/Laminin PNKP 11284 genome.wustl.edu 37 19 50368485 50368485 + Missense_Mutation SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_007254.2 -1 provisional p.A133T 0.000 132 0% 230 15.7% 38 18.4% benign(0) tolerated(0.77) neutral(0.001) NULL IL4I1 259307 genome.wustl.edu 37 19 50399128 50399129 + Frame_Shift_Ins INS - - A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_172374.1 -1 reviewed p.G87fs 0.951:0.092 - - - - - - - - - superfamily_FAD/NAD(P)-binding domain POLD1 5424 genome.wustl.edu 37 19 50912867 50912867 + Missense_Mutation SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_002691.2 +1 validated p.V700I 1.000 26 0% 33 45.5% 14 64.2% probably_damaging(0.973) deleterious(0) deleterious(0.859) HMMPfam_DNA_pol_B,HMMSmart_POLBc,superfamily_SSF56672 KLK13 26085 genome.wustl.edu 37 19 51563739 51563739 + Missense_Mutation SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_015596.1 -1 reviewed p.V64I 0.908 68 0% 116 35.3% 1 0% benign(0.037) tolerated(0.39) neutral(0.018) HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases SIGLEC6 946 genome.wustl.edu 37 19 52034449 52034449 + Missense_Mutation SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_001245.5 -1 validated p.G131D 0.000 85 0% 84 15.5% 0 - benign(0.045) tolerated(0.06) neutral(0.325) HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin LILRA2 11027 genome.wustl.edu 37 19 55086388 55086388 + Silent SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_001130917.1 +1 validated p.S181 0.000 302 0% 247 43.3% 0 - - - - HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin PPP6R1 22870 genome.wustl.edu 37 19 55751640 55751640 + Missense_Mutation SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_014931.3 -1 validated p.R442Q 1.000 33 0% 31 48.4% 43 30.2% probably_damaging(0.997) deleterious(0.02) deleterious(0.849) HMMPfam_SAPS NLRP9 338321 genome.wustl.edu 37 19 56244663 56244663 + Missense_Mutation SNP C C A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_176820.2 -1 reviewed p.R178S 0.289 58 0% 69 40.6% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_NACHT ZSCAN18 65982 genome.wustl.edu 37 19 58601414 58601414 + Missense_Mutation SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_001145542.1 -1 validated p.C130Y 0.999 40 0% 65 15.4% 10 20% probably_damaging(0.991) deleterious(0) deleterious(0.889) HMMPfam_SCAN,HMMSmart_SCAN DEFB127 140850 genome.wustl.edu 37 20 139430 139430 + Missense_Mutation SNP A A G novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_139074.2 +1 reviewed p.K22R 0.354 58 0% 54 51.9% 0 - probably_damaging(0.981) tolerated(0.3) neutral(0.454) NULL C20orf96 140680 genome.wustl.edu 37 20 270291 270291 + Silent SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_153269.1 -1 predicted p.K32 0.000 129 0% 196 13.8% 10 20% - - - NULL ANGPT4 51378 genome.wustl.edu 37 20 896836 896836 + Silent SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_015985.2 -1 reviewed p.L8 0.996 69 0% 44 43.2% 0 - - - - NULL TRMT6 51605 genome.wustl.edu 37 20 5924294 5924294 + Missense_Mutation SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_015939.3 -1 reviewed p.T193M 1.000 227 0% 222 45.9% 9 66.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Gcd10p JAG1 182 genome.wustl.edu 37 20 10620443 10620444 + Frame_Shift_Ins INS - - T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_000214.2 -1 reviewed p.N1120fs 1.000:1.000 - - - - - - - - - NULL CRNKL1 51340 genome.wustl.edu 37 20 20018054 20018056 + In_Frame_Del DEL TTC TTC - novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 TTC TTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_016652.4 -1 reviewed p.E764in_frame_del 1.000:1.000:1.000 - - - - - - - - - NULL DNMT3B 1789 genome.wustl.edu 37 20 31386307 31386307 + Missense_Mutation SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_006892.3 +1 reviewed p.G511D 1.000 64 0% 33 30.3% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_FYVE/PHD zinc finger GDF5 8200 genome.wustl.edu 37 20 34022473 34022473 + Missense_Mutation SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_000557.2 -1 reviewed p.S247L 0.069 21 0% 30 46.7% 1 100% benign(0.044) tolerated(0.34) neutral(0.025) HMMPfam_TGFb_propeptide TTI1 9675 genome.wustl.edu 37 20 36641759 36641760 + Frame_Shift_Del DEL CA CA - novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 CA CA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_014657.1 -1 predicted p.A154fs 1.000:1.000 - - - - - - - - - superfamily_ARM-type_fold FAM83D 81610 genome.wustl.edu 37 20 37570666 37570666 + Missense_Mutation SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_030919.2 +1 validated p.C213Y 0.459 241 0% 148 13.5% 12 0% benign(0.045) deleterious(0) neutral(0.447) HMMPfam_DUF1669,superfamily_Phospholipase D/nuclease HNF4A 3172 genome.wustl.edu 37 20 43057079 43057079 + Missense_Mutation SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_000457.3 +1 reviewed p.L412F 1.000 74 0% 45 33.3% 1 0% benign(0.095) deleterious(0.04) neutral(0.356) NULL MMP9 4318 genome.wustl.edu 37 20 44637609 44637609 + Missense_Mutation SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_004994.2 +1 reviewed p.G15D 1.000 79 0% 97 39.2% 5 0% probably_damaging(1) tolerated(0.14) deleterious(0.750) NULL MMP9 4318 genome.wustl.edu 37 20 44639227 44639227 + Silent SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_004994.2 +1 reviewed p.V159 1.000 38 0% 59 50.8% 7 0% - - - "HMMPfam_Peptidase_M10,HMMSmart_SM00235,superfamily_Metalloproteases (""zincins"") catalytic domain" ZMYND8 23613 genome.wustl.edu 37 20 45878087 45878087 + Missense_Mutation SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_183047.1 -1 reviewed p.R573H 1.000 167 0% 197 37.1% 9 44.4% probably_damaging(0.991) deleterious(0.03) deleterious(0.808) NULL ATP9A 10079 genome.wustl.edu 37 20 50241782 50241782 + Silent SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_006045.1 -1 validated p.L655 1.000 136 0% 80 46.3% 9 77.7% - - - HMMPfam_Hydrolase,superfamily_HAD-like SALL4 57167 genome.wustl.edu 37 20 50407920 50407920 + Missense_Mutation SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_020436.3 -1 reviewed p.A368T 0.121 81 0% 84 11.9% 0 - benign(0.001) tolerated(0.48) neutral(0.011) NULL CSTF1 1477 genome.wustl.edu 37 20 54970682 54970682 + Missense_Mutation SNP A A G novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_001033521.1 +1 reviewed p.D25G 0.997 121 0% 73 35.6% 26 42.3% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL NPEPL1 79716 genome.wustl.edu 37 20 57287587 57287587 + Missense_Mutation SNP G G T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_024663.3 +1 validated p.G318V 1.000 193 0% 256 13.3% 25 24% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Peptidase_M17,superfamily_Zn-dependent exopeptidases GNAS 2778 genome.wustl.edu 37 20 57474001 57474001 + Missense_Mutation SNP G G T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_080425.2 +1 reviewed p.G716V 1.000 128 0% 227 42.3% 389 37.5% probably_damaging(0.989) tolerated(0.51) neutral(0.449) HMMPfam_G-alpha,HMMSmart_SM00275,superfamily_P-loop containing nucleoside triphosphate hydrolases DIDO1 11083 genome.wustl.edu 37 20 61528071 61528071 + Silent SNP C C A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_033081.1 -1 reviewed p.T622 0.003 28 0% 35 45.7% 2 0% - - - NULL DIDO1 11083 genome.wustl.edu 37 20 61542793 61542793 + Missense_Mutation SNP C C A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_033081.1 -1 reviewed p.G58C 0.016 65 0% 75 46.7% 8 50% probably_damaging(0.962) deleterious(0.01) deleterious(0.810) NULL KCNQ2 3785 genome.wustl.edu 37 20 62038316 62038316 + Missense_Mutation SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_172107.2 -1 reviewed p.R767Q 0.027 15 0% 18 44.4% 0 - possibly_damaging(0.582) tolerated(0.42) neutral(0.214) NULL PRIC285 85441 genome.wustl.edu 37 20 62193008 62193008 + Missense_Mutation SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_001037335.2 -1 reviewed p.S2261N 0.000 30 0% 50 48% 8 37.5% benign(0.01) tolerated(0.62) neutral(0.005) superfamily_P-loop containing nucleoside triphosphate hydrolases NCAM2 4685 genome.wustl.edu 37 21 22841015 22841015 + Missense_Mutation SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_004540.2 +1 reviewed p.P603S 1.000 169 0% 152 48% 1 100% possibly_damaging(0.842) tolerated(0.63) neutral(0.326) HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like MORC3 23515 genome.wustl.edu 37 21 37713696 37713696 + Splice_Site SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_015358.2 +1 reviewed e6-1 0.998 42 0% 70 47.1% 0 - - - - - SLC37A1 54020 genome.wustl.edu 37 21 43963621 43963621 + Silent SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_018964.3 +1 reviewed p.Y213 1.000 170 0% 153 43.1% 13 46.1% - - - HMMPfam_MFS_1,superfamily_MFS general substrate transporter TRPM2 7226 genome.wustl.edu 37 21 45860741 45860741 + Missense_Mutation SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_003307.3 +1 reviewed p.V1447I 0.040 73 0% 96 47.9% 39 38.4% benign(0) tolerated(1) - superfamily_Nudix LRRC3 81543 genome.wustl.edu 37 21 45876939 45876939 + Missense_Mutation SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_030891.3 +1 validated p.A138T 0.998 36 0% 45 44.4% 0 - probably_damaging(0.988) tolerated(0.1) deleterious(0.724) superfamily_SSF52058 TUBA8 51807 genome.wustl.edu 37 22 18604465 18604465 + Missense_Mutation SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_018943.1 +1 provisional p.V75M 0.925 57 0% 32 12.5% 1 0% benign(0.133) deleterious(0) neutral(0.456) HMMPfam_Tubulin,superfamily_Tubulin nucleotide-binding domain-like MRPL40 64976 genome.wustl.edu 37 22 19423197 19423197 + Silent SNP T T C novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_003776.2 +1 reviewed p.T111 0.002 100 0% 145 44.1% 95 51.5% - - - HMMPfam_MRP-L28 ARVCF 421 genome.wustl.edu 37 22 19961201 19961201 + Missense_Mutation SNP T T C novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_001670.1 -1 reviewed p.N735S 1.000 36 0% 54 38.9% 29 41.3% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Arm,HMMSmart_SM00185,superfamily_ARM repeat ARVCF 421 genome.wustl.edu 37 22 19969605 19969605 + Missense_Mutation SNP G G T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_001670.1 -1 reviewed p.P74T 1.000 61 0% 82 37.8% 11 45.4% probably_damaging(1) tolerated(0.15) deleterious(0.741) NULL SEZ6L 23544 genome.wustl.edu 37 22 26688520 26688520 + Silent SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_021115.4 +1 validated p.G81 0.000 51 0% 31 41.9% 0 - - - - NULL CCDC157 550631 genome.wustl.edu 37 22 30772483 30772483 + Missense_Mutation SNP T T A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_001017437.2 +1 validated p.C670S 0.824 111 0% 174 40.8% 2 0% benign(0.021) tolerated(0.71) neutral(0.003) NULL SFI1 9814 genome.wustl.edu 37 22 32014325 32014325 + Missense_Mutation SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_001007467.1 +1 validated p.A1217V 0.033 21 0% 40 42.5% 30 46.6% probably_damaging(0.981) deleterious(0) deleterious(0.870) NULL TMPRSS6 164656 genome.wustl.edu 37 22 37465206 37465206 + Missense_Mutation SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_153609.2 -1 reviewed p.A683T 0.000 20 0% 35 51.4% 0 - benign(0) tolerated(0.51) neutral(0.009) HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases CARD10 29775 genome.wustl.edu 37 22 37906277 37906277 + Missense_Mutation SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_014550.3 -1 reviewed p.R284H 0.687 46 0% 55 49.1% 7 42.8% probably_damaging(0.993) deleterious(0.03) deleterious(0.815) NULL CACNA1I 8911 genome.wustl.edu 37 22 40055075 40055075 + Missense_Mutation SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_021096.3 +1 reviewed p.V762M 1.000 119 0% 197 41.6% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels TNRC6B 23112 genome.wustl.edu 37 22 40661292 40661292 + Missense_Mutation SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_015088.2 +1 validated p.A353V 1.000 35 0% 67 31.3% 1 0% probably_damaging(0.973) deleterious(0.03) deleterious(0.779) NULL MCHR1 2847 genome.wustl.edu 37 22 41077831 41077831 + Missense_Mutation SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_005297.3 +1 reviewed p.R390C 0.998 22 0% 45 48.9% 1 0% probably_damaging(1) deleterious(0.04) deleterious(0.849) superfamily_Family A G protein-coupled receptor-like TTLL12 23170 genome.wustl.edu 37 22 43575644 43575644 + Missense_Mutation SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_015140.3 -1 validated p.P274L 0.999 66 0% 114 10.5% 22 9% benign(0.354) deleterious(0.01) deleterious(0.518) NULL FBLN1 2192 genome.wustl.edu 37 22 45960857 45960857 + Silent SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_006485.3 +1 reviewed p.T597 0.001 88 0% 158 29.1% 0 - - - - NULL PLXNB2 23654 genome.wustl.edu 37 22 50728516 50728516 + Silent SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_012401.2 -1 validated p.R166 0.000 62 0% 93 12.9% 61 21.3% - - - HMMPfam_Sema,HMMSmart_Sema,superfamily_Sema PLXNB2 23654 genome.wustl.edu 37 22 50728595 50728595 + Missense_Mutation SNP T T C novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_012401.2 -1 validated p.E140G 1.000 41 0% 63 38.1% 42 40.4% probably_damaging(0.99) deleterious(0.01) deleterious(0.847) HMMPfam_Sema,HMMSmart_Sema,superfamily_Sema ARSE 415 genome.wustl.edu 37 X 2867352 2867352 + Missense_Mutation SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_000047.2 -1 reviewed p.L283F 0.033 32 0% 35 45.7% 10 40% possibly_damaging(0.626) deleterious(0.02) deleterious(0.601) HMMPfam_Sulfatase,superfamily_Alkaline_phosphatase_core TBL1X 6907 genome.wustl.edu 37 X 9656197 9656197 + Silent SNP T T G novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_001139466.1 +1 reviewed p.A166 0.001 45 0% 50 14% 1 0% - - - NULL ATXN3L 92552 genome.wustl.edu 37 X 13337040 13337040 + Silent SNP G G A rs187826331 by1000genomes TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_001135995.1 -1 validated p.V338 0.002 222 0% 107 40.2% 0 - - - - NULL PHKA2 5256 genome.wustl.edu 37 X 18958168 18958168 + Splice_Site SNP T T C novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_000292.2 -1 reviewed e9-2 0.999 80 0% 124 38.7% 0 - - - - - MAP3K15 389840 genome.wustl.edu 37 X 19478134 19478136 + In_Frame_Del DEL ATG ATG - novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 ATG ATG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 ENST00000338883 -1 known p.I286in_frame_del 1.000:1.000:1.000 - - - - - - - - - NULL MAP3K15 389840 genome.wustl.edu 37 X 19507062 19507062 + Missense_Mutation SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 ENST00000338883 -1 known p.D129N 1.000 111 0% 89 47.2% 0 - possibly_damaging(0.638) tolerated(0.26) neutral(0.258) NULL MAGEB4 4115 genome.wustl.edu 37 X 30261094 30261094 + Missense_Mutation SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_002367.3 +1 reviewed p.S281N 0.000 121 0% 147 10.9% 0 - possibly_damaging(0.492) deleterious(0.05) deleterious(0.509) HMMPfam_MAGE DMD 1756 genome.wustl.edu 37 X 32430167 32430167 + Missense_Mutation SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_004012.3 -1 reviewed p.A3V 1.000 103 0% 90 33.3% 0 - unknown(0) - - NULL USP9X 8239 genome.wustl.edu 37 X 41055854 41055855 + Frame_Shift_Del DEL AG AG - novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 AG AG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_001039590.2 +1 reviewed p.R1368fs 0.999:1.000 - - - - - - - - - NULL GPR82 27197 genome.wustl.edu 37 X 41586678 41586678 + Nonsense_Mutation SNP C C A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_080817.4 +1 validated p.C133* 0.138 40 0% 25 56% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like HDAC6 10013 genome.wustl.edu 37 X 48681062 48681062 + Silent SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_006044.2 +1 reviewed p.S790 1.000 132 0% 187 41.7% 21 95.2% - - - HMMPfam_Hist_deacetyl,superfamily_SSF52768 SLC35A2 7355 genome.wustl.edu 37 X 48762123 48762123 + Missense_Mutation SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_005660.1 -1 provisional p.A355T 0.000 64 0% 85 40% 21 0% benign(0.017) tolerated(0.76) neutral(0.002) NULL KDM5C 8242 genome.wustl.edu 37 X 53247029 53247029 + Silent SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_004187.3 -1 reviewed p.Y157 1.000 92 0% 101 41.6% 12 41.6% - - - HMMPfam_ARID,HMMSmart_SM00501,superfamily_ARID-like AR 367 genome.wustl.edu 37 X 66765161 66765161 + Missense_Mutation SNP A A T rs5902610 TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_000044.2 +1 reviewed p.Q58L 0.920 22 0% 44 36.4% 0 - benign(0.386) deleterious(0.01) deleterious(0.529) HMMPfam_Androgen_recep YIPF6 286451 genome.wustl.edu 37 X 67718949 67718949 + Missense_Mutation SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_173834.2 +1 provisional p.A14V 0.000 67 0% 87 37.9% 4 0% benign(0.018) deleterious(0.04) neutral(0.349) NULL EFNB1 1947 genome.wustl.edu 37 X 68059564 68059564 + Missense_Mutation SNP C C G novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_004429.4 +1 reviewed p.T155R 0.918 117 0% 210 21.9% 24 0% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMPfam_Ephrin,superfamily_Cupredoxin PJA1 64219 genome.wustl.edu 37 X 68382672 68382672 + Missense_Mutation SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_145119.3 -1 reviewed p.P137L 0.069 113 0% 238 43.3% 6 0% benign(0) tolerated(0.25) neutral(0.037) NULL ATP7A 538 genome.wustl.edu 37 X 77243740 77243740 + Silent SNP A A C novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_000052.4 +1 reviewed p.V41 1.000 101 0% 80 35% 0 - - - - HMMPfam_HMA,superfamily_HMA heavy metal-associated domain,PatternScan_HMA_1 TSPAN6 7105 genome.wustl.edu 37 X 99890722 99890722 + Missense_Mutation SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_003270.2 -1 reviewed p.A37T 0.999 52 0% 152 21.7% 21 0% benign(0.014) tolerated(0.06) neutral(0.323) HMMPfam_Tetraspannin CSTF2 1478 genome.wustl.edu 37 X 100088263 100088263 + Silent SNP A A G novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_001325.2 +1 reviewed p.A434 0.007 109 0% 75 13.3% 3 33.3% - - - NULL WBP5 51186 genome.wustl.edu 37 X 102612898 102612898 + Silent SNP C C A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_001006612.1 +1 reviewed p.R96 0.997 105 0% 204 44.1% 61 83.6% - - - HMMPfam_TFA MID2 11043 genome.wustl.edu 37 X 107167711 107167711 + Missense_Mutation SNP A A C novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_012216.3 +1 reviewed p.E525A 1.000 73 0% 55 32.7% 1 100% possibly_damaging(0.621) tolerated(0.26) neutral(0.251) HMMPfam_fn3,superfamily_Fibronectin type III CXorf56 63932 genome.wustl.edu 37 X 118676496 118676496 + Missense_Mutation SNP A A G novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_022101.3 -1 validated p.I162T 1.000 211 0% 187 34.8% 21 0% possibly_damaging(0.864) deleterious(0.01) deleterious(0.740) NULL XIAP 331 genome.wustl.edu 37 X 123019821 123019821 + Silent SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_001167.2 +1 reviewed p.T103 0.000 50 0% 71 9.9% 3 0% - - - superfamily_SSF57924 AIFM1 9131 genome.wustl.edu 37 X 129263582 129263582 + Missense_Mutation SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_004208.3 -1 reviewed p.H598Y 1.000 364 0.3% 339 10.9% 95 25.2% benign(0.001) tolerated(1) - superfamily_FAD/NAD-linked reductases dimerisation (C-terminal) domain MST4 51765 genome.wustl.edu 37 X 131206366 131206366 + Missense_Mutation SNP C C T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_016542.3 +1 reviewed p.P335S 0.999 120 0% 78 10.3% 0 - benign(0) tolerated(0.6) neutral(0.004) NULL GPR112 139378 genome.wustl.edu 37 X 135430577 135430577 + Missense_Mutation SNP C C A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_153834.3 +1 reviewed p.A1571D 0.003 168 0% 139 30.9% 0 - benign(0.001) tolerated(0.93) - NULL ATP11C 286410 genome.wustl.edu 37 X 138850483 138850483 + Missense_Mutation SNP A A T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_173694.4 -1 validated p.L779Q 0.999 151 0% 88 43.2% 1 0% probably_damaging(1) tolerated(0.1) deleterious(0.786) superfamily_HAD-like SLITRK4 139065 genome.wustl.edu 37 X 142717225 142717225 + Missense_Mutation SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_173078.3 -1 reviewed p.A567V 1.000 222 0.5% 350 39.4% 1 0% possibly_damaging(0.813) tolerated(0.15) deleterious(0.548) HMMSmart_SM00082,superfamily_L domain-like IDS 3423 genome.wustl.edu 37 X 148579793 148579793 + Missense_Mutation SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_000202.5 -1 reviewed p.P185S 1.000 105 0% 108 42.6% 14 0% possibly_damaging(0.88) tolerated(0.16) neutral(0.403) HMMPfam_Sulfatase,superfamily_Alkaline phosphatase-like MAGEA10 4109 genome.wustl.edu 37 X 151303928 151303928 + Silent SNP G G A novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_001011543.1 -1 reviewed p.S55 0.028 134 0% 157 47.1% 0 - - - - NULL PDZD4 57595 genome.wustl.edu 37 X 153073998 153073998 + Missense_Mutation SNP A A G novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 NM_032512.2 -1 provisional p.L38P 1.000 45 2.2% 68 50% 0 - possibly_damaging(0.903) deleterious(0) deleterious(0.802) superfamily_PDZ domain-like ATP6AP1 537 genome.wustl.edu 37 X 153657560 153657560 + Missense_Mutation SNP G G T novel TCGA-BG-A0MQ-01A-11D-A10B-09 TCGA-BG-A0MQ-10A-02D-A10B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0a23860e-9819-4708-af30-1f372ff0ab90 d398f4b1-d0c7-44cd-b650-0906ad512e67 ENST00000439372 +1 known p.G110C 0.000 40 0% 55 27.3% 3 100% probably_damaging(1) deleterious(0) deleterious(0.945) NULL