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 SPOCD1 90853 genome.wustl.edu 37 1 32279606 32279606 + Missense_Mutation SNP G G T novel TCGA-AP-A053-01A-21W-A027-09 TCGA-AP-A053-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 65263faf-e471-4c9e-952f-6d1ceca39bbc b27734c9-5866-400c-ae83-3b861f8e29e5 NM_144569.4 -1 provisional p.D443E 0.000 48 0% 37 45.9% 0 - possibly_damaging(0.507) - - NULL PIGK 10026 genome.wustl.edu 37 1 77672356 77672356 + Missense_Mutation SNP T T C novel TCGA-AP-A053-01A-21W-A027-09 TCGA-AP-A053-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 65263faf-e471-4c9e-952f-6d1ceca39bbc b27734c9-5866-400c-ae83-3b861f8e29e5 NM_005482.2 -1 reviewed p.R70G 1.000 258 0% 226 41.2% 26 38.4% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_Peptidase_C13 KCNC4 3749 genome.wustl.edu 37 1 110765724 110765724 + Missense_Mutation SNP C C T novel TCGA-AP-A053-01A-21W-A027-09 TCGA-AP-A053-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 65263faf-e471-4c9e-952f-6d1ceca39bbc b27734c9-5866-400c-ae83-3b861f8e29e5 NM_004978.3 +1 reviewed p.R273W 0.998 138 0% 87 42.5% 2 50% possibly_damaging(0.763) tolerated(0.15) deleterious(0.524) superfamily_Voltage-gated potassium channels C1orf110 339512 genome.wustl.edu 37 1 162824730 162824730 + Missense_Mutation SNP G G T novel TCGA-AP-A053-01A-21W-A027-09 TCGA-AP-A053-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 65263faf-e471-4c9e-952f-6d1ceca39bbc b27734c9-5866-400c-ae83-3b861f8e29e5 NM_178550.4 -1 validated p.T245N 0.937 287 0% 223 43.9% 0 - possibly_damaging(0.45) deleterious(0.03) deleterious(0.512) NULL CAPN9 10753 genome.wustl.edu 37 1 230883454 230883454 + Missense_Mutation SNP G G T novel TCGA-AP-A053-01A-21W-A027-09 TCGA-AP-A053-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 65263faf-e471-4c9e-952f-6d1ceca39bbc b27734c9-5866-400c-ae83-3b861f8e29e5 NM_006615.2 +1 reviewed p.G71V 1.000 33 0% 30 26.7% 0 - probably_damaging(0.993) tolerated(0.27) deleterious(0.484) HMMPfam_Peptidase_C2,HMMSmart_SM00230,superfamily_Cysteine proteinases CEP170 9859 genome.wustl.edu 37 1 243327801 243327801 + Missense_Mutation SNP C C A novel TCGA-AP-A053-01A-21W-A027-09 TCGA-AP-A053-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 65263faf-e471-4c9e-952f-6d1ceca39bbc b27734c9-5866-400c-ae83-3b861f8e29e5 NM_014812.2 -1 reviewed p.R1154L 1.000 101 0% 64 32.8% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL SEMA4F 10505 genome.wustl.edu 37 2 74901700 74901700 + Missense_Mutation SNP C C G novel TCGA-AP-A053-01A-21W-A027-09 TCGA-AP-A053-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 65263faf-e471-4c9e-952f-6d1ceca39bbc b27734c9-5866-400c-ae83-3b861f8e29e5 NM_004263.3 +1 provisional p.P300A 0.998 102 0% 72 43.1% 2 50% possibly_damaging(0.878) deleterious(0.01) deleterious(0.748) HMMPfam_Sema,HMMSmart_SM00630,superfamily_Sema domain COL3A1 1281 genome.wustl.edu 37 2 189859516 189859516 + Missense_Mutation SNP G G C novel TCGA-AP-A053-01A-21W-A027-09 TCGA-AP-A053-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 65263faf-e471-4c9e-952f-6d1ceca39bbc b27734c9-5866-400c-ae83-3b861f8e29e5 NM_000090.3 +1 reviewed p.E472Q 1.000 72 0% 57 43.9% 69 0% unknown(0) tolerated(0.17) - HMMPfam_Collagen COL3A1 1281 genome.wustl.edu 37 2 189859517 189859517 + Missense_Mutation SNP A A C novel TCGA-AP-A053-01A-21W-A027-09 TCGA-AP-A053-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 65263faf-e471-4c9e-952f-6d1ceca39bbc b27734c9-5866-400c-ae83-3b861f8e29e5 NM_000090.3 +1 reviewed p.E472A 1.000 72 0% 54 42.6% 68 0% unknown(0) tolerated(0.27) - HMMPfam_Collagen ATG7 10533 genome.wustl.edu 37 3 11468323 11468323 + Missense_Mutation SNP G G A novel TCGA-AP-A053-01A-21W-A027-09 TCGA-AP-A053-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 65263faf-e471-4c9e-952f-6d1ceca39bbc b27734c9-5866-400c-ae83-3b861f8e29e5 NM_006395.2 +1 validated p.V668M 1.000 82 0% 51 41.2% 20 25% probably_damaging(0.997) deleterious(0.03) deleterious(0.831) superfamily_Activating enzymes of the ubiquitin-like proteins SYN2 6854 genome.wustl.edu 37 3 12182150 12182150 + Splice_Site DEL G G - novel TCGA-AP-A053-01A-21W-A027-09 TCGA-AP-A053-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 65263faf-e471-4c9e-952f-6d1ceca39bbc b27734c9-5866-400c-ae83-3b861f8e29e5 ENST00000341648 +1 known e3-1 1.000 - - - - - - - - - - ZNF852 285346 genome.wustl.edu 37 3 44541759 44541759 + Missense_Mutation SNP C C G novel TCGA-AP-A053-01A-21W-A027-09 TCGA-AP-A053-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 65263faf-e471-4c9e-952f-6d1ceca39bbc b27734c9-5866-400c-ae83-3b861f8e29e5 ENST00000436261 -1 known p.W170C 0.035 222 0% 116 33.6% 2 0% possibly_damaging(0.943) tolerated(0.17) neutral(0.447) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers PIK3CA 5290 genome.wustl.edu 37 3 178916944 178916944 + Missense_Mutation SNP A A G novel TCGA-AP-A053-01A-21W-A027-09 TCGA-AP-A053-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 65263faf-e471-4c9e-952f-6d1ceca39bbc b27734c9-5866-400c-ae83-3b861f8e29e5 NM_006218.2 +1 reviewed p.K111E 1.000 165 0% 119 46.2% 5 60% probably_damaging(0.984) deleterious(0.04) deleterious(0.779) superfamily_SSF54236 TLR10 81793 genome.wustl.edu 37 4 38775102 38775102 + Missense_Mutation SNP C C T novel TCGA-AP-A053-01A-21W-A027-09 TCGA-AP-A053-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 65263faf-e471-4c9e-952f-6d1ceca39bbc b27734c9-5866-400c-ae83-3b861f8e29e5 NM_001017388.1 -1 reviewed p.E704K 1.000 296 0% 124 85.5% 1 0% probably_damaging(0.975) deleterious(0) deleterious(0.861) HMMPfam_TIR,HMMSmart_TIR,superfamily_TIR NPY5R 4889 genome.wustl.edu 37 4 164272660 164272660 + Nonsense_Mutation SNP T T A novel TCGA-AP-A053-01A-21W-A027-09 TCGA-AP-A053-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 65263faf-e471-4c9e-952f-6d1ceca39bbc b27734c9-5866-400c-ae83-3b861f8e29e5 NM_006174.2 +1 provisional p.L412* 1.000 169 0.6% 108 46.3% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 C5orf42 65250 genome.wustl.edu 37 5 37125420 37125423 + Frame_Shift_Del DEL TTCT TTCT - novel TCGA-AP-A053-01A-21W-A027-09 TCGA-AP-A053-10A-01W-A027-09 TTCT TTCT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 65263faf-e471-4c9e-952f-6d1ceca39bbc b27734c9-5866-400c-ae83-3b861f8e29e5 NM_023073.3 -1 predicted p.R1805fs 1.000:0.989:0.999:0.996 - - - - - - - - - NULL PCDHA7 56141 genome.wustl.edu 37 5 140216005 140216005 + Silent SNP G G A novel TCGA-AP-A053-01A-21W-A027-09 TCGA-AP-A053-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 65263faf-e471-4c9e-952f-6d1ceca39bbc b27734c9-5866-400c-ae83-3b861f8e29e5 NM_018910.2 +1 reviewed p.S679 0.000 40 0% 38 47.4% 12 0% - - - NULL MAT2B 27430 genome.wustl.edu 37 5 162945356 162945356 + Missense_Mutation SNP C C T novel TCGA-AP-A053-01A-21W-A027-09 TCGA-AP-A053-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 65263faf-e471-4c9e-952f-6d1ceca39bbc b27734c9-5866-400c-ae83-3b861f8e29e5 NM_013283.3 +1 reviewed p.T331M 1.000 90 0% 59 39% 31 32.2% probably_damaging(1) deleterious(0) deleterious(0.945) NULL NSD1 64324 genome.wustl.edu 37 5 176637232 176637232 + Missense_Mutation SNP G G T novel TCGA-AP-A053-01A-21W-A027-09 TCGA-AP-A053-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 65263faf-e471-4c9e-952f-6d1ceca39bbc b27734c9-5866-400c-ae83-3b861f8e29e5 NM_022455.4 +1 reviewed p.R611L 0.002 196 0% 261 60.9% 8 62.5% benign(0.005) tolerated(0.07) neutral(0.319) NULL PPP1R18 170954 genome.wustl.edu 37 6 30647119 30647119 + Silent SNP G G A novel TCGA-AP-A053-01A-21W-A027-09 TCGA-AP-A053-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 65263faf-e471-4c9e-952f-6d1ceca39bbc b27734c9-5866-400c-ae83-3b861f8e29e5 NM_001134870.1 -1 validated p.Y553 1.000 30 0% 27 25.9% 27 3.7% - - - NULL TAAR8 83551 genome.wustl.edu 37 6 132874535 132874535 + Missense_Mutation SNP G G A novel TCGA-AP-A053-01A-21W-A027-09 TCGA-AP-A053-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 65263faf-e471-4c9e-952f-6d1ceca39bbc b27734c9-5866-400c-ae83-3b861f8e29e5 NM_053278.1 +1 provisional p.S235N 0.000 178 0.6% 168 44.6% 0 - benign(0.001) tolerated(0.45) neutral(0.012) HMMPfam_7tm_1,superfamily_SSF81321 C7orf25 79020 genome.wustl.edu 37 7 42949865 42949865 + Nonsense_Mutation SNP G G T novel TCGA-AP-A053-01A-21W-A027-09 TCGA-AP-A053-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 65263faf-e471-4c9e-952f-6d1ceca39bbc b27734c9-5866-400c-ae83-3b861f8e29e5 NM_001099858.1 -1 validated p.S270* 0.978 94 0% 66 43.9% 22 59% - - - HMMPfam_DUF1308 GPR85 54329 genome.wustl.edu 37 7 112724695 112724695 + Missense_Mutation SNP C C A novel TCGA-AP-A053-01A-21W-A027-09 TCGA-AP-A053-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 65263faf-e471-4c9e-952f-6d1ceca39bbc b27734c9-5866-400c-ae83-3b861f8e29e5 NM_018970.6 -1 validated p.G28C 1.000 120 0% 71 43.7% 1 100% probably_damaging(0.998) tolerated(0.08) deleterious(0.774) superfamily_Family A G protein-coupled receptor-like KLF10 7071 genome.wustl.edu 37 8 103663816 103663816 + Silent SNP C C T novel TCGA-AP-A053-01A-21W-A027-09 TCGA-AP-A053-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 65263faf-e471-4c9e-952f-6d1ceca39bbc b27734c9-5866-400c-ae83-3b861f8e29e5 NM_005655.2 -1 validated p.V248 0.002 32 0% 47 42.6% 29 58.6% - - - NULL SMARCA2 6595 genome.wustl.edu 37 9 2104095 2104095 + Missense_Mutation SNP G G T novel TCGA-AP-A053-01A-21W-A027-09 TCGA-AP-A053-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 65263faf-e471-4c9e-952f-6d1ceca39bbc b27734c9-5866-400c-ae83-3b861f8e29e5 NM_003070.3 +1 reviewed p.C1073F 1.000 285 0% 190 42.6% 0 - possibly_damaging(0.449) tolerated(0.85) neutral(0.147) superfamily_P-loop containing nucleoside triphosphate hydrolases CAMK1D 57118 genome.wustl.edu 37 10 12867710 12867710 + Missense_Mutation SNP G G A novel TCGA-AP-A053-01A-21W-A027-09 TCGA-AP-A053-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 65263faf-e471-4c9e-952f-6d1ceca39bbc b27734c9-5866-400c-ae83-3b861f8e29e5 NM_020397.2 +1 reviewed p.E354K 0.001 523 0% 501 26.7% 5 40% unknown(0) tolerated(0.33) - NULL KIAA1217 56243 genome.wustl.edu 37 10 24833991 24833991 + Missense_Mutation SNP G G A novel TCGA-AP-A053-01A-21W-A027-09 TCGA-AP-A053-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 65263faf-e471-4c9e-952f-6d1ceca39bbc b27734c9-5866-400c-ae83-3b861f8e29e5 NM_019590.3 +1 validated p.G1765S 0.055 216 0% 115 46.1% 163 45.3% benign(0.006) tolerated(0.39) neutral(0.016) NULL PLAC9 219348 genome.wustl.edu 37 10 81904097 81904098 + In_Frame_Ins INS - - AGA novel TCGA-AP-A053-01A-21W-A027-09 TCGA-AP-A053-10A-01W-A027-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 65263faf-e471-4c9e-952f-6d1ceca39bbc b27734c9-5866-400c-ae83-3b861f8e29e5 NM_001012973.1 +1 provisional p.95in_frame_insE 0.062:0.007 - - - - - - - - - NULL TMEM180 79847 genome.wustl.edu 37 10 104230835 104230835 + Missense_Mutation SNP G G A novel TCGA-AP-A053-01A-21W-A027-09 TCGA-AP-A053-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 65263faf-e471-4c9e-952f-6d1ceca39bbc b27734c9-5866-400c-ae83-3b861f8e29e5 NM_024789.3 +1 validated p.R222Q 0.998 35 0% 44 59.1% 12 50% benign(0.174) tolerated(0.57) neutral(0.022) superfamily_MFS_gen_substrate_transporter OR51A4 401666 genome.wustl.edu 37 11 4967776 4967776 + Silent SNP A A G novel TCGA-AP-A053-01A-21W-A027-09 TCGA-AP-A053-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 65263faf-e471-4c9e-952f-6d1ceca39bbc b27734c9-5866-400c-ae83-3b861f8e29e5 NM_001005329.1 -1 provisional p.D185 0.000 91 0% 50 42% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR51A2 401667 genome.wustl.edu 37 11 4976389 4976389 + Silent SNP A A G novel TCGA-AP-A053-01A-21W-A027-09 TCGA-AP-A053-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 65263faf-e471-4c9e-952f-6d1ceca39bbc b27734c9-5866-400c-ae83-3b861f8e29e5 NM_001004748.1 -1 provisional p.D185 0.976 403 0% 306 42.5% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR52B2 255725 genome.wustl.edu 37 11 6190819 6190819 + Silent SNP G G A novel TCGA-AP-A053-01A-21W-A027-09 TCGA-AP-A053-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 65263faf-e471-4c9e-952f-6d1ceca39bbc b27734c9-5866-400c-ae83-3b861f8e29e5 NM_001004052.1 -1 provisional p.H246 1.000 138 0% 141 51.8% 1 100% - - - HMMPfam_7tm_1,superfamily_SSF81321 MRVI1 10335 genome.wustl.edu 37 11 10603430 10603430 + Missense_Mutation SNP C C T novel TCGA-AP-A053-01A-21W-A027-09 TCGA-AP-A053-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 65263faf-e471-4c9e-952f-6d1ceca39bbc b27734c9-5866-400c-ae83-3b861f8e29e5 NM_001098579.1 -1 reviewed p.E773K 1.000 71 0% 87 40.2% 3 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_MRVI1 CHST1 8534 genome.wustl.edu 37 11 45671886 45671886 + Silent SNP C C T novel TCGA-AP-A053-01A-21W-A027-09 TCGA-AP-A053-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 65263faf-e471-4c9e-952f-6d1ceca39bbc b27734c9-5866-400c-ae83-3b861f8e29e5 NM_003654.4 -1 validated p.A196 0.997 41 0% 26 57.7% 7 100% - - - HMMPfam_Sulfotransfer_1,superfamily_SSF52540 OR5A1 219982 genome.wustl.edu 37 11 59211290 59211290 + Missense_Mutation SNP C C A novel TCGA-AP-A053-01A-21W-A027-09 TCGA-AP-A053-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 65263faf-e471-4c9e-952f-6d1ceca39bbc b27734c9-5866-400c-ae83-3b861f8e29e5 NM_001004728.1 +1 provisional p.L217I 0.751 352 0% 510 29.4% 0 - benign(0.007) tolerated(1) - HMMPfam_7tm_1,superfamily_SSF81321 CLPB 81570 genome.wustl.edu 37 11 72005148 72005148 + Missense_Mutation SNP G G A novel TCGA-AP-A053-01A-21W-A027-09 TCGA-AP-A053-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 65263faf-e471-4c9e-952f-6d1ceca39bbc b27734c9-5866-400c-ae83-3b861f8e29e5 NM_030813.3 -1 provisional p.T598M 1.000 49 0% 24 45.8% 25 60% probably_damaging(0.998) tolerated(0.06) deleterious(0.797) HMMPfam_ClpB_D2-small,superfamily_P-loop containing nucleoside triphosphate hydrolases ARHGEF17 9828 genome.wustl.edu 37 11 73022287 73022287 + Silent SNP G G A novel TCGA-AP-A053-01A-21W-A027-09 TCGA-AP-A053-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 65263faf-e471-4c9e-952f-6d1ceca39bbc b27734c9-5866-400c-ae83-3b861f8e29e5 NM_014786.3 +1 validated p.E868 0.995 31 0% 22 27.3% 7 57.1% - - - NULL IGSF9B 22997 genome.wustl.edu 37 11 133815984 133815985 + Frame_Shift_Ins INS - - G novel TCGA-AP-A053-01A-21W-A027-09 TCGA-AP-A053-10A-01W-A027-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 65263faf-e471-4c9e-952f-6d1ceca39bbc b27734c9-5866-400c-ae83-3b861f8e29e5 NM_014987.1 -1 validated p.P80fs 0.999:1.000 - - - - - - - - - HMMSmart_IG,HMMPfam_V-set,superfamily_SSF48726 TAS2R14 50840 genome.wustl.edu 37 12 11090897 11090897 + Missense_Mutation SNP C C T novel TCGA-AP-A053-01A-21W-A027-09 TCGA-AP-A053-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 65263faf-e471-4c9e-952f-6d1ceca39bbc b27734c9-5866-400c-ae83-3b861f8e29e5 NM_023922.1 -1 reviewed p.D304N 0.003 194 0% 187 44.4% 0 - benign(0.059) tolerated(0.56) neutral(0.010) superfamily_SSF81321 RASAL1 8437 genome.wustl.edu 37 12 113559348 113559348 + Missense_Mutation SNP C C A novel TCGA-AP-A053-01A-21W-A027-09 TCGA-AP-A053-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 65263faf-e471-4c9e-952f-6d1ceca39bbc b27734c9-5866-400c-ae83-3b861f8e29e5 NM_004658.1 -1 reviewed p.G132C 0.846 194 0% 126 50% 14 50% probably_damaging(0.992) tolerated(0.06) deleterious(0.770) superfamily_C2 domain (Calcium/lipid-binding domain CaLB) MZT1 440145 genome.wustl.edu 37 13 73293116 73293116 + Missense_Mutation SNP G G A novel TCGA-AP-A053-01A-21W-A027-09 TCGA-AP-A053-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 65263faf-e471-4c9e-952f-6d1ceca39bbc b27734c9-5866-400c-ae83-3b861f8e29e5 NM_001071775.2 -1 validated p.L67F 1.000 362 0% 279 44.8% 30 66.6% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL MYCBP2 23077 genome.wustl.edu 37 13 77763183 77763183 + Splice_Site SNP C C A novel TCGA-AP-A053-01A-21W-A027-09 TCGA-AP-A053-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 65263faf-e471-4c9e-952f-6d1ceca39bbc b27734c9-5866-400c-ae83-3b861f8e29e5 NM_015057.4 -1 validated e30-1 1.000 87 0% 82 42.7% 0 - - - - - PSEN1 5663 genome.wustl.edu 37 14 73659449 73659449 + Missense_Mutation SNP A A G novel TCGA-AP-A053-01A-21W-A027-09 TCGA-AP-A053-10A-01W-A027-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 65263faf-e471-4c9e-952f-6d1ceca39bbc b27734c9-5866-400c-ae83-3b861f8e29e5 NM_000021.3 +1 reviewed p.K216E 1.000 260 0% 173 41% 16 68.7% probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMPfam_Presenilin,HMMSmart_SM00730 VPS35 55737 genome.wustl.edu 37 16 46706202 46706202 + Frame_Shift_Del DEL T T - novel TCGA-AP-A053-01A-21W-A027-09 TCGA-AP-A053-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 65263faf-e471-4c9e-952f-6d1ceca39bbc b27734c9-5866-400c-ae83-3b861f8e29e5 NM_018206.4 -1 reviewed p.N448fs 1.000 - - - - - - - - - HMMPfam_Vps35 TP53 7157 genome.wustl.edu 37 17 7577538 7577538 + Missense_Mutation SNP C C T novel TCGA-AP-A053-01A-21W-A027-09 TCGA-AP-A053-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 65263faf-e471-4c9e-952f-6d1ceca39bbc b27734c9-5866-400c-ae83-3b861f8e29e5 NM_000546.4 -1 reviewed p.R248Q 1.000 113 0% 39 79.5% 96 96.8% probably_damaging(1) deleterious(0.01) deleterious(0.905) PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53 GSDMA 284110 genome.wustl.edu 37 17 38133276 38133276 + Missense_Mutation SNP C C T novel TCGA-AP-A053-01A-21W-A027-09 TCGA-AP-A053-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 65263faf-e471-4c9e-952f-6d1ceca39bbc b27734c9-5866-400c-ae83-3b861f8e29e5 NM_178171.4 +1 validated p.L435F 1.000 251 0% 1327 88.7% 4 75% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL EFTUD2 9343 genome.wustl.edu 37 17 42940095 42940095 + Missense_Mutation SNP C C A novel TCGA-AP-A053-01A-21W-A027-09 TCGA-AP-A053-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 65263faf-e471-4c9e-952f-6d1ceca39bbc b27734c9-5866-400c-ae83-3b861f8e29e5 NM_004247.3 -1 validated p.W531C 1.000 76 0% 39 79.5% 31 90.3% probably_damaging(0.987) deleterious(0.04) deleterious(0.785) HMMPfam_GTP_EFTU_D2,superfamily_Translat_factor DHX40 79665 genome.wustl.edu 37 17 57682972 57682972 + Missense_Mutation SNP C C T novel TCGA-AP-A053-01A-21W-A027-09 TCGA-AP-A053-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 65263faf-e471-4c9e-952f-6d1ceca39bbc b27734c9-5866-400c-ae83-3b861f8e29e5 NM_024612.4 +1 reviewed p.R713C 0.999 103 0% 126 66.7% 62 66.1% possibly_damaging(0.95) deleterious(0.04) deleterious(0.742) NULL BRIP1 83990 genome.wustl.edu 37 17 59871074 59871074 + Missense_Mutation SNP C C T novel TCGA-AP-A053-01A-21W-A027-09 TCGA-AP-A053-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 65263faf-e471-4c9e-952f-6d1ceca39bbc b27734c9-5866-400c-ae83-3b861f8e29e5 NM_032043.1 -1 reviewed p.A453T 0.998 66 0% 53 18.9% 4 0% benign(0) tolerated(0.28) neutral(0.032) NULL TEX2 55852 genome.wustl.edu 37 17 62290313 62290313 + Missense_Mutation SNP T T C novel TCGA-AP-A053-01A-21W-A027-09 TCGA-AP-A053-10A-01W-A027-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 65263faf-e471-4c9e-952f-6d1ceca39bbc b27734c9-5866-400c-ae83-3b861f8e29e5 NM_018469.3 -1 validated p.Y422C 1.000 194 0% 179 30.2% 7 28.5% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ENSG00000173213 0 genome.wustl.edu 37 18 49030 49030 + Missense_Mutation SNP C C T novel TCGA-AP-A053-01A-21W-A027-09 TCGA-AP-A053-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 65263faf-e471-4c9e-952f-6d1ceca39bbc b27734c9-5866-400c-ae83-3b861f8e29e5 ENST00000308911 -1 known p.A63T 1.000 23 0% 26 69.2% 5 0% possibly_damaging(0.88) deleterious(0) deleterious(0.788) HMMPfam_Tubulin,superfamily_Tubulin_FtsZ ELL 8178 genome.wustl.edu 37 19 18555601 18555601 + Silent SNP G G A novel TCGA-AP-A053-01A-21W-A027-09 TCGA-AP-A053-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 65263faf-e471-4c9e-952f-6d1ceca39bbc b27734c9-5866-400c-ae83-3b861f8e29e5 NM_006532.3 -1 validated p.I609 0.921 10 0% 15 33.3% 24 29.1% - - - HMMPfam_Occludin_ELL IL29 282618 genome.wustl.edu 37 19 39787191 39787191 + Missense_Mutation SNP C C T novel TCGA-AP-A053-01A-21W-A027-09 TCGA-AP-A053-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 65263faf-e471-4c9e-952f-6d1ceca39bbc b27734c9-5866-400c-ae83-3b861f8e29e5 NM_172140.1 +1 reviewed p.P44S 0.020 177 0% 155 46.5% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL UBE2V1 7335 genome.wustl.edu 37 20 48713345 48713345 + Missense_Mutation SNP G G T novel TCGA-AP-A053-01A-21W-A027-09 TCGA-AP-A053-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 65263faf-e471-4c9e-952f-6d1ceca39bbc b27734c9-5866-400c-ae83-3b861f8e29e5 NM_021988.4 -1 reviewed p.P35H 1.000 217 0% 175 45.1% 85 56.4% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_UBQ-conjugat/RWD-like NFATC2 4773 genome.wustl.edu 37 20 50051757 50051757 + Missense_Mutation SNP C C T novel TCGA-AP-A053-01A-21W-A027-09 TCGA-AP-A053-10A-01W-A027-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 65263faf-e471-4c9e-952f-6d1ceca39bbc b27734c9-5866-400c-ae83-3b861f8e29e5 NM_173091.2 -1 reviewed p.R667Q 1.000 332 0% 218 43.6% 1 0% probably_damaging(0.991) tolerated(0.07) deleterious(0.763) HMMPfam_TIG,HMMSmart_SM00429,superfamily_E set domains PABPC5 140886 genome.wustl.edu 37 X 90691600 90691600 + Nonsense_Mutation SNP G G T novel TCGA-AP-A053-01A-21W-A027-09 TCGA-AP-A053-10A-01W-A027-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 65263faf-e471-4c9e-952f-6d1ceca39bbc b27734c9-5866-400c-ae83-3b861f8e29e5 NM_080832.2 +1 reviewed p.G342* 1.000 173 0% 74 58.1% 0 - - - - HMMPfam_RRM_1,HMMSmart_SM00360,HMMSmart_SM00361,superfamily_RNA-binding domain RBD