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 CACNA1E 777 genome.wustl.edu 37 1 181689471 181689471 + Silent SNP C C T novel TCGA-D1-A16R-01A-11D-A12J-09 TCGA-D1-A16R-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97ae9c9d-a42c-4a3c-9fa8-3dd67c95af10 7f05d2f4-dfdd-475a-b622-bbed9394999a NM_000721.2 +1 reviewed p.G627 1.000 588 0% 405 39.8% 0 - - - - HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels RGL1 23179 genome.wustl.edu 37 1 183853981 183853981 + Missense_Mutation SNP C C T novel TCGA-D1-A16R-01A-11D-A12J-09 TCGA-D1-A16R-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97ae9c9d-a42c-4a3c-9fa8-3dd67c95af10 7f05d2f4-dfdd-475a-b622-bbed9394999a NM_015149.3 +1 validated p.T322I 1.000 304 0% 209 11% 17 5.8% possibly_damaging(0.949) deleterious(0.04) deleterious(0.742) HMMPfam_RasGEF,HMMSmart_SM00147,superfamily_Ras GEF CHI3L1 1116 genome.wustl.edu 37 1 203148685 203148685 + Missense_Mutation SNP G G A novel TCGA-D1-A16R-01A-11D-A12J-09 TCGA-D1-A16R-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97ae9c9d-a42c-4a3c-9fa8-3dd67c95af10 7f05d2f4-dfdd-475a-b622-bbed9394999a NM_001276.2 -1 reviewed p.A347V 0.982 29 0% 40 45% 19 31.5% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Glyco_hydro_18,HMMSmart_Glyco_18,superfamily_Glyco_hydro_cat LAX1 54900 genome.wustl.edu 37 1 203734697 203734697 + Missense_Mutation SNP G G A novel TCGA-D1-A16R-01A-11D-A12J-09 TCGA-D1-A16R-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97ae9c9d-a42c-4a3c-9fa8-3dd67c95af10 7f05d2f4-dfdd-475a-b622-bbed9394999a NM_017773.3 +1 validated p.D2N 0.112 105 0% 72 18.1% 1 0% possibly_damaging(0.68) deleterious(0) deleterious(0.687) NULL ACVR1 90 genome.wustl.edu 37 2 158622506 158622506 + Silent SNP G G T novel TCGA-D1-A16R-01A-11D-A12J-09 TCGA-D1-A16R-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97ae9c9d-a42c-4a3c-9fa8-3dd67c95af10 7f05d2f4-dfdd-475a-b622-bbed9394999a NM_001105.4 -1 reviewed p.A331 1.000 330 0% 233 36.1% 32 40.6% - - - superfamily_Kinase_like,HMMPfam_Pkinase KCNH7 90134 genome.wustl.edu 37 2 163302758 163302758 + Nonsense_Mutation SNP G G A novel TCGA-D1-A16R-01A-11D-A12J-09 TCGA-D1-A16R-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97ae9c9d-a42c-4a3c-9fa8-3dd67c95af10 7f05d2f4-dfdd-475a-b622-bbed9394999a NM_033272.2 -1 reviewed p.R442* 1.000 241 0% 173 38.7% 0 - - - - superfamily_Voltage-gated potassium channels KCNH7 90134 genome.wustl.edu 37 2 163693047 163693047 + Missense_Mutation SNP C C T novel TCGA-D1-A16R-01A-11D-A12J-09 TCGA-D1-A16R-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97ae9c9d-a42c-4a3c-9fa8-3dd67c95af10 7f05d2f4-dfdd-475a-b622-bbed9394999a NM_033272.2 -1 reviewed p.G103R 1.000 134 0% 87 40.2% 0 - possibly_damaging(0.91) tolerated(0.11) deleterious(0.634) superfamily_PYP-like sensor domain (PAS domain) SLC19A3 80704 genome.wustl.edu 37 2 228563476 228563476 + Missense_Mutation SNP C C T novel TCGA-D1-A16R-01A-11D-A12J-09 TCGA-D1-A16R-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97ae9c9d-a42c-4a3c-9fa8-3dd67c95af10 7f05d2f4-dfdd-475a-b622-bbed9394999a NM_025243.3 -1 reviewed p.V319I 0.995 44 0% 26 42.3% 0 - probably_damaging(0.997) deleterious(0.03) deleterious(0.831) HMMPfam_Folate_carrier,superfamily_MFS_gen_substrate_transporter CTNNB1 1499 genome.wustl.edu 37 3 41266107 41266107 + Missense_Mutation SNP T T G novel TCGA-D1-A16R-01A-11D-A12J-09 TCGA-D1-A16R-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97ae9c9d-a42c-4a3c-9fa8-3dd67c95af10 7f05d2f4-dfdd-475a-b622-bbed9394999a NM_001098209.1 +1 reviewed p.I35S 1.000 174 0.6% 104 34.6% 140 40% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL CTNNB1 1499 genome.wustl.edu 37 3 41277903 41277903 + Missense_Mutation SNP C C G novel TCGA-D1-A16R-01A-11D-A12J-09 TCGA-D1-A16R-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97ae9c9d-a42c-4a3c-9fa8-3dd67c95af10 7f05d2f4-dfdd-475a-b622-bbed9394999a NM_001098209.1 +1 reviewed p.Q623E 1.000 511 0% 441 41.5% 203 36.4% benign(0.012) tolerated(0.88) neutral(0.001) HMMPfam_Arm,HMMSmart_SM00185,superfamily_ARM repeat C3orf77 375337 genome.wustl.edu 37 3 44284816 44284816 + Missense_Mutation SNP A A G novel TCGA-D1-A16R-01A-11D-A12J-09 TCGA-D1-A16R-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97ae9c9d-a42c-4a3c-9fa8-3dd67c95af10 7f05d2f4-dfdd-475a-b622-bbed9394999a NM_001145030.1 +1 validated p.D273G 0.295 227 0% 151 33.1% 0 - probably_damaging(0.991) deleterious(0) deleterious(0.889) NULL SETD2 29072 genome.wustl.edu 37 3 47108598 47108598 + Missense_Mutation SNP C C G novel TCGA-D1-A16R-01A-11D-A12J-09 TCGA-D1-A16R-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97ae9c9d-a42c-4a3c-9fa8-3dd67c95af10 7f05d2f4-dfdd-475a-b622-bbed9394999a NM_014159.6 -1 reviewed p.R2024P 1.000 622 0% 451 35.7% 18 44.4% probably_damaging(1) deleterious(0) deleterious(0.945) NULL GMPPB 29925 genome.wustl.edu 37 3 49759299 49759299 + Silent SNP C C A novel TCGA-D1-A16R-01A-11D-A12J-09 TCGA-D1-A16R-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97ae9c9d-a42c-4a3c-9fa8-3dd67c95af10 7f05d2f4-dfdd-475a-b622-bbed9394999a NM_013334.2 -1 reviewed p.V350 1.000 53 0% 47 34% 87 35.6% - - - superfamily_Trimer_LpxA_like ZIC4 84107 genome.wustl.edu 37 3 147113700 147113700 + Silent SNP C C A novel TCGA-D1-A16R-01A-11D-A12J-09 TCGA-D1-A16R-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97ae9c9d-a42c-4a3c-9fa8-3dd67c95af10 7f05d2f4-dfdd-475a-b622-bbed9394999a ENST00000383075 -1 known p.P209 0.998 111 0% 82 36.6% 1 0% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers PIK3CA 5290 genome.wustl.edu 37 3 178916876 178916876 + Missense_Mutation SNP G G A rs121913287 TCGA-D1-A16R-01A-11D-A12J-09 TCGA-D1-A16R-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97ae9c9d-a42c-4a3c-9fa8-3dd67c95af10 7f05d2f4-dfdd-475a-b622-bbed9394999a NM_006218.2 +1 reviewed p.R88Q 1.000 285 0% 192 18.8% 3 33.3% probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_PI3K_p85B,HMMSmart_PI3K_p85B PIK3CA 5290 genome.wustl.edu 37 3 178947827 178947827 + Missense_Mutation SNP G G T novel TCGA-D1-A16R-01A-11D-A12J-09 TCGA-D1-A16R-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97ae9c9d-a42c-4a3c-9fa8-3dd67c95af10 7f05d2f4-dfdd-475a-b622-bbed9394999a NM_006218.2 +1 reviewed p.C901F 1.000 399 0% 306 44.1% 11 45.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PI3_PI4_kinase,HMMSmart_PI3Kc,superfamily_Kinase_like,PatternScan_PI3_4_KINASE_2 SEC24B 10427 genome.wustl.edu 37 4 110415815 110415815 + Missense_Mutation SNP C C A novel TCGA-D1-A16R-01A-11D-A12J-09 TCGA-D1-A16R-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97ae9c9d-a42c-4a3c-9fa8-3dd67c95af10 7f05d2f4-dfdd-475a-b622-bbed9394999a NM_006323.2 +1 reviewed p.P431T 0.125 213 0% 181 37% 10 0% benign(0) tolerated(0.59) neutral(0.004) NULL DCHS2 54798 genome.wustl.edu 37 4 155226342 155226342 + Missense_Mutation SNP A A G novel TCGA-D1-A16R-01A-11D-A12J-09 TCGA-D1-A16R-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97ae9c9d-a42c-4a3c-9fa8-3dd67c95af10 7f05d2f4-dfdd-475a-b622-bbed9394999a NM_017639.3 -1 validated p.S1313P 0.137 165 0% 128 44.5% 1 0% possibly_damaging(0.844) tolerated(0.15) deleterious(0.565) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like EDIL3 10085 genome.wustl.edu 37 5 83549931 83549931 + Missense_Mutation SNP T T G novel TCGA-D1-A16R-01A-11D-A12J-09 TCGA-D1-A16R-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97ae9c9d-a42c-4a3c-9fa8-3dd67c95af10 7f05d2f4-dfdd-475a-b622-bbed9394999a NM_005711.3 -1 reviewed p.D56A 0.996 224 0.4% 164 17.1% 11 0% benign(0.114) deleterious(0.01) neutral(0.415) HMMSmart_SM00179,HMMPfam_EGF,HMMSmart_SM00181,PatternScan_EGF_2,superfamily_EGF/Laminin PCDHA2 56146 genome.wustl.edu 37 5 140175497 140175497 + Silent SNP C C T novel TCGA-D1-A16R-01A-11D-A12J-09 TCGA-D1-A16R-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97ae9c9d-a42c-4a3c-9fa8-3dd67c95af10 7f05d2f4-dfdd-475a-b622-bbed9394999a NM_018905.2 +1 reviewed p.Y316 0.993 203 0% 136 32.4% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like HMGCLL1 54511 genome.wustl.edu 37 6 55378995 55378995 + Splice_Site SNP C C G novel TCGA-D1-A16R-01A-11D-A12J-09 TCGA-D1-A16R-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97ae9c9d-a42c-4a3c-9fa8-3dd67c95af10 7f05d2f4-dfdd-475a-b622-bbed9394999a NM_019036.2 -1 validated e6-1 1.000 193 0% 134 11.9% 0 - - - - - TRA2A 29896 genome.wustl.edu 37 7 23552631 23552631 + Missense_Mutation SNP C C G novel TCGA-D1-A16R-01A-11D-A12J-09 TCGA-D1-A16R-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97ae9c9d-a42c-4a3c-9fa8-3dd67c95af10 7f05d2f4-dfdd-475a-b622-bbed9394999a NM_013293.3 -1 reviewed p.R136P 1.000 217 0% 184 34.2% 101 46.5% probably_damaging(0.997) deleterious(0.01) deleterious(0.872) HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD FANCG 2189 genome.wustl.edu 37 9 35076819 35076819 + Missense_Mutation SNP C C T novel TCGA-D1-A16R-01A-11D-A12J-09 TCGA-D1-A16R-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97ae9c9d-a42c-4a3c-9fa8-3dd67c95af10 7f05d2f4-dfdd-475a-b622-bbed9394999a NM_004629.1 -1 reviewed p.G276R 0.231 104 0% 89 41.6% 8 75% possibly_damaging(0.882) tolerated(0.07) deleterious(0.663) HMMSmart_SM00028,superfamily_TPR-like SLC28A3 64078 genome.wustl.edu 37 9 86920237 86920237 + Missense_Mutation SNP G G A novel TCGA-D1-A16R-01A-11D-A12J-09 TCGA-D1-A16R-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97ae9c9d-a42c-4a3c-9fa8-3dd67c95af10 7f05d2f4-dfdd-475a-b622-bbed9394999a NM_022127.1 -1 provisional p.T89I 0.000 380 0% 310 42.3% 1 0% benign(0.007) tolerated(0.06) neutral(0.323) NULL C10orf140 387640 genome.wustl.edu 37 10 21805466 21805467 + In_Frame_Ins INS - - CCTCCT rs112207161 byCluster;by1000genomes TCGA-D1-A16R-01A-11D-A12J-09 TCGA-D1-A16R-10A-01D-A12J-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97ae9c9d-a42c-4a3c-9fa8-3dd67c95af10 7f05d2f4-dfdd-475a-b622-bbed9394999a NM_207371.3 -1 validated p.429in_frame_insEE 0.998:1.000 - - - - - - - - - NULL PTEN 5728 genome.wustl.edu 37 10 89692886 89692886 + Missense_Mutation SNP T T C rs121909223 TCGA-D1-A16R-01A-11D-A12J-09 TCGA-D1-A16R-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97ae9c9d-a42c-4a3c-9fa8-3dd67c95af10 7f05d2f4-dfdd-475a-b622-bbed9394999a ENST00000371953 +1 known p.C124R 1.000 570 0% 556 59.2% 52 53.8% 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 89711885 89711886 + Frame_Shift_Ins INS - - G novel TCGA-D1-A16R-01A-11D-A12J-09 TCGA-D1-A16R-10A-01D-A12J-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97ae9c9d-a42c-4a3c-9fa8-3dd67c95af10 7f05d2f4-dfdd-475a-b622-bbed9394999a ENST00000371953 +1 known p.I168fs 1.000:1.000 - - - - - - - - - HMMSmart_SM00404,superfamily_(Phosphotyrosine protein) phosphatases II PTEN 5728 genome.wustl.edu 37 10 89711887 89711890 + Frame_Shift_Del DEL CCCA CCCA - novel TCGA-D1-A16R-01A-11D-A12J-09 TCGA-D1-A16R-10A-01D-A12J-09 CCCA CCCA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97ae9c9d-a42c-4a3c-9fa8-3dd67c95af10 7f05d2f4-dfdd-475a-b622-bbed9394999a ENST00000371953 +1 known p.P169fs 1.000:1.000:1.000:1.000 - - - - - - - - - HMMSmart_SM00404,superfamily_(Phosphotyrosine protein) phosphatases II HIF1AN 55662 genome.wustl.edu 37 10 102296244 102296244 + Missense_Mutation SNP T T C novel TCGA-D1-A16R-01A-11D-A12J-09 TCGA-D1-A16R-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97ae9c9d-a42c-4a3c-9fa8-3dd67c95af10 7f05d2f4-dfdd-475a-b622-bbed9394999a NM_017902.2 +1 validated p.I85T 1.000 266 0% 299 27.8% 9 22.2% possibly_damaging(0.438) tolerated(0.08) neutral(0.443) superfamily_SSF51197 FAT3 120114 genome.wustl.edu 37 11 92533857 92533857 + Silent SNP C C A novel TCGA-D1-A16R-01A-11D-A12J-09 TCGA-D1-A16R-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97ae9c9d-a42c-4a3c-9fa8-3dd67c95af10 7f05d2f4-dfdd-475a-b622-bbed9394999a NM_001008781.2 +1 validated p.R2560 0.994 230 0% 171 44.4% 0 - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like KLRK1 22914 genome.wustl.edu 37 12 10532351 10532351 + Missense_Mutation SNP C C T novel TCGA-D1-A16R-01A-11D-A12J-09 TCGA-D1-A16R-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97ae9c9d-a42c-4a3c-9fa8-3dd67c95af10 7f05d2f4-dfdd-475a-b622-bbed9394999a NM_007360.2 -1 reviewed p.M63I 0.766 213 0.5% 143 42.7% 4 50% benign(0.15) deleterious(0.03) neutral(0.378) NULL RXFP2 122042 genome.wustl.edu 37 13 32365986 32365986 + Nonsense_Mutation SNP C C T novel TCGA-D1-A16R-01A-11D-A12J-09 TCGA-D1-A16R-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97ae9c9d-a42c-4a3c-9fa8-3dd67c95af10 7f05d2f4-dfdd-475a-b622-bbed9394999a NM_130806.3 +1 reviewed p.R397* 1.000 726 0% 551 38.7% 0 - - - - superfamily_Family A G protein-coupled receptor-like ANKRD11 29123 genome.wustl.edu 37 16 89355035 89355035 + Silent SNP G G A novel TCGA-D1-A16R-01A-11D-A12J-09 TCGA-D1-A16R-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97ae9c9d-a42c-4a3c-9fa8-3dd67c95af10 7f05d2f4-dfdd-475a-b622-bbed9394999a NM_013275.4 -1 validated p.D215 0.044 87 0% 81 38.3% 23 47.8% - - - HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat CRK 1398 genome.wustl.edu 37 17 1340005 1340005 + Missense_Mutation SNP G G A novel TCGA-D1-A16R-01A-11D-A12J-09 TCGA-D1-A16R-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97ae9c9d-a42c-4a3c-9fa8-3dd67c95af10 7f05d2f4-dfdd-475a-b622-bbed9394999a NM_016823.2 -1 reviewed p.P229L 1.000 90 0% 92 45.7% 16 31.2% possibly_damaging(0.746) deleterious(0.05) deleterious(0.619) superfamily_SH3-domain NLRP1 22861 genome.wustl.edu 37 17 5462617 5462617 + Missense_Mutation SNP T T C novel TCGA-D1-A16R-01A-11D-A12J-09 TCGA-D1-A16R-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97ae9c9d-a42c-4a3c-9fa8-3dd67c95af10 7f05d2f4-dfdd-475a-b622-bbed9394999a NM_033004.3 -1 reviewed p.I467V 0.256 98 0% 96 37.5% 3 0% benign(0.017) tolerated(0.23) neutral(0.042) HMMPfam_NACHT,superfamily_P-loop containing nucleoside triphosphate hydrolases ST8SIA3 51046 genome.wustl.edu 37 18 55024422 55024422 + Missense_Mutation SNP C C T novel TCGA-D1-A16R-01A-11D-A12J-09 TCGA-D1-A16R-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97ae9c9d-a42c-4a3c-9fa8-3dd67c95af10 7f05d2f4-dfdd-475a-b622-bbed9394999a NM_015879.2 +1 validated p.T194M 1.000 203 0% 193 39.4% 0 - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_Glyco_transf_29 ARID3A 1820 genome.wustl.edu 37 19 960103 960103 + Silent SNP C C A novel TCGA-D1-A16R-01A-11D-A12J-09 TCGA-D1-A16R-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97ae9c9d-a42c-4a3c-9fa8-3dd67c95af10 7f05d2f4-dfdd-475a-b622-bbed9394999a NM_005224.2 +1 reviewed p.L235 0.999 323 0% 290 34.5% 2 50% - - - HMMPfam_ARID,superfamily_ARID FZR1 51343 genome.wustl.edu 37 19 3526277 3526281 + Frame_Shift_Del DEL CTGCT CTGCT - novel TCGA-D1-A16R-01A-11D-A12J-09 TCGA-D1-A16R-10A-01D-A12J-09 CTGCT CTGCT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97ae9c9d-a42c-4a3c-9fa8-3dd67c95af10 7f05d2f4-dfdd-475a-b622-bbed9394999a NM_001136198.1 +1 validated p.L94fs 0.997:1.000:1.000:1.000:1.000 - - - - - - - - - NULL NOTCH3 4854 genome.wustl.edu 37 19 15303203 15303203 + Missense_Mutation SNP G G A novel TCGA-D1-A16R-01A-11D-A12J-09 TCGA-D1-A16R-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97ae9c9d-a42c-4a3c-9fa8-3dd67c95af10 7f05d2f4-dfdd-475a-b622-bbed9394999a NM_000435.2 -1 reviewed p.P109S 0.975 14 0% 24 33.3% 46 19.5% benign(0.002) tolerated(0.21) neutral(0.044) HMMSmart_SM00181,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_2,superfamily_EGF/Laminin LOC100287226 100287226 genome.wustl.edu 37 19 22499899 22499899 + Missense_Mutation SNP A A G novel TCGA-D1-A16R-01A-11D-A12J-09 TCGA-D1-A16R-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97ae9c9d-a42c-4a3c-9fa8-3dd67c95af10 7f05d2f4-dfdd-475a-b622-bbed9394999a XM_002343636.1 +1 model p.N1094S 0.000 100 0% 56 46.4% 0 - - - - superfamily_C2H2 and C2HC zinc fingers CYP2S1 29785 genome.wustl.edu 37 19 41704752 41704752 + Missense_Mutation SNP G G A novel TCGA-D1-A16R-01A-11D-A12J-09 TCGA-D1-A16R-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97ae9c9d-a42c-4a3c-9fa8-3dd67c95af10 7f05d2f4-dfdd-475a-b622-bbed9394999a NM_030622.6 +1 reviewed p.A265T 0.002 50 0% 57 35.1% 0 - possibly_damaging(0.797) tolerated(0.17) neutral(0.358) HMMPfam_p450,superfamily_Cytochrome P450 DEFB129 140881 genome.wustl.edu 37 20 210318 210318 + Missense_Mutation SNP G G T novel TCGA-D1-A16R-01A-11D-A12J-09 TCGA-D1-A16R-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97ae9c9d-a42c-4a3c-9fa8-3dd67c95af10 7f05d2f4-dfdd-475a-b622-bbed9394999a NM_080831.2 +1 validated p.R153I 0.000 468 0% 379 40.1% 0 - benign(0.076) deleterious(0.02) neutral(0.389) NULL MYH9 4627 genome.wustl.edu 37 22 36680169 36680169 + Missense_Mutation SNP C C T novel TCGA-D1-A16R-01A-11D-A12J-09 TCGA-D1-A16R-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97ae9c9d-a42c-4a3c-9fa8-3dd67c95af10 7f05d2f4-dfdd-475a-b622-bbed9394999a NM_002473.4 -1 reviewed p.R1912H 1.000 48 0% 67 41.8% 642 36.6% probably_damaging(0.989) deleterious(0) deleterious(0.884) HMMPfam_Myosin_tail_1 TUBGCP6 85378 genome.wustl.edu 37 22 50659328 50659328 + Missense_Mutation SNP T T C novel TCGA-D1-A16R-01A-11D-A12J-09 TCGA-D1-A16R-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97ae9c9d-a42c-4a3c-9fa8-3dd67c95af10 7f05d2f4-dfdd-475a-b622-bbed9394999a NM_020461.3 -1 reviewed p.T1154A 0.000 61 0% 32 40.6% 32 34.3% benign(0.039) deleterious(0.01) neutral(0.408) HMMPfam_Spc97_Spc98 ENSG00000209082 0 genome.wustl.edu 37 MT 3281 3281 + RNA SNP G G A novel TCGA-D1-A16R-01A-11D-A12J-09 TCGA-D1-A16R-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97ae9c9d-a42c-4a3c-9fa8-3dd67c95af10 7f05d2f4-dfdd-475a-b622-bbed9394999a ENST00000386347 +1 novel NULL NULL 27 0.000 8 0.625 6737 92.4% - - - - SMARCA1 6594 genome.wustl.edu 37 X 128649876 128649876 + Missense_Mutation SNP G G T novel TCGA-D1-A16R-01A-11D-A12J-09 TCGA-D1-A16R-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 97ae9c9d-a42c-4a3c-9fa8-3dd67c95af10 7f05d2f4-dfdd-475a-b622-bbed9394999a NM_003069.3 -1 reviewed p.P175H 1.000 397 0% 323 37.2% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_P-loop containing nucleoside triphosphate hydrolases