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 PADI3 51702 genome.wustl.edu 37 1 17593310 17593310 + Missense_Mutation SNP C C A novel TCGA-D1-A161-01A-11D-A122-09 TCGA-D1-A161-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 16ee2634-8879-4eee-9e73-392a8ed0a803 bdb2d6fb-4d73-4129-8d87-daecdaf7d00d NM_016233.2 +1 reviewed p.Q169K 0.455 221 0% 134 44% 0 - benign(0) tolerated(0.87) neutral(0.001) HMMPfam_PAD_M,superfamily_PAD_central MAN1C1 57134 genome.wustl.edu 37 1 26110184 26110184 + Silent SNP C C T novel TCGA-D1-A161-01A-11D-A122-09 TCGA-D1-A161-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 16ee2634-8879-4eee-9e73-392a8ed0a803 bdb2d6fb-4d73-4129-8d87-daecdaf7d00d NM_020379.2 +1 validated p.D599 0.944 72 0% 64 37.5% 13 30.7% - - - HMMPfam_Glyco_hydro_47,superfamily_Glyco_hydro_47 CSF1 1435 genome.wustl.edu 37 1 110459990 110459990 + Missense_Mutation SNP G G A novel TCGA-D1-A161-01A-11D-A122-09 TCGA-D1-A161-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 16ee2634-8879-4eee-9e73-392a8ed0a803 bdb2d6fb-4d73-4129-8d87-daecdaf7d00d NM_000757.4 +1 validated p.D101N 0.341 267 0.4% 178 38.8% 11 45.4% probably_damaging(0.977) deleterious(0.04) deleterious(0.768) HMMPfam_CSF-1,superfamily_4-helical cytokines SLC16A1 6566 genome.wustl.edu 37 1 113459864 113459864 + Silent SNP G G A novel TCGA-D1-A161-01A-11D-A122-09 TCGA-D1-A161-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 16ee2634-8879-4eee-9e73-392a8ed0a803 bdb2d6fb-4d73-4129-8d87-daecdaf7d00d NM_003051.3 -1 reviewed p.S388 1.000 52 0% 38 36.8% 1 0% - - - HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter IRF2BP2 359948 genome.wustl.edu 37 1 234743516 234743517 + Frame_Shift_Ins INS - - T novel TCGA-D1-A161-01A-11D-A122-09 TCGA-D1-A161-10A-01D-A122-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 16ee2634-8879-4eee-9e73-392a8ed0a803 bdb2d6fb-4d73-4129-8d87-daecdaf7d00d NM_182972.2 -1 reviewed p.P378fs 1.000:1.000 - - - - - - - - - NULL TTC7A 57217 genome.wustl.edu 37 2 47233183 47233183 + Silent SNP C C T novel TCGA-D1-A161-01A-11D-A122-09 TCGA-D1-A161-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 16ee2634-8879-4eee-9e73-392a8ed0a803 bdb2d6fb-4d73-4129-8d87-daecdaf7d00d ENST00000440051 +1 known p.T38M 0.291 136 0% 76 27.6% 16 37.5% - - - superfamily_Protein prenylyltransferase ATP6V1B1 525 genome.wustl.edu 37 2 71188070 71188070 + Missense_Mutation SNP G G A novel TCGA-D1-A161-01A-11D-A122-09 TCGA-D1-A161-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 16ee2634-8879-4eee-9e73-392a8ed0a803 bdb2d6fb-4d73-4129-8d87-daecdaf7d00d NM_001692.3 +1 reviewed p.R202H 1.000 71 0% 61 45.9% 15 66.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_ATP-synt_ab,superfamily_SSF52540 WDR33 55339 genome.wustl.edu 37 2 128477318 128477318 + Missense_Mutation SNP C C T novel TCGA-D1-A161-01A-11D-A122-09 TCGA-D1-A161-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 16ee2634-8879-4eee-9e73-392a8ed0a803 bdb2d6fb-4d73-4129-8d87-daecdaf7d00d NM_018383.3 -1 reviewed p.G761R 0.802 85 0% 71 47.9% 15 46.6% unknown(0) tolerated(0.26) - NULL CASP8 841 genome.wustl.edu 37 2 202136260 202136262 + In_Frame_Del DEL AGA AGA - novel TCGA-D1-A161-01A-11D-A122-09 TCGA-D1-A161-10A-01D-A122-09 AGA AGA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 16ee2634-8879-4eee-9e73-392a8ed0a803 bdb2d6fb-4d73-4129-8d87-daecdaf7d00d NM_001080125.1 +1 reviewed p.E170in_frame_del 0.993:0.999:1.000 - - - - - - - - - HMMPfam_DED,HMMSmart_SM00031,superfamily_DEATH domain COL7A1 1294 genome.wustl.edu 37 3 48605069 48605069 + Missense_Mutation SNP C C T novel TCGA-D1-A161-01A-11D-A122-09 TCGA-D1-A161-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 16ee2634-8879-4eee-9e73-392a8ed0a803 bdb2d6fb-4d73-4129-8d87-daecdaf7d00d NM_000094.3 -1 reviewed p.G2662R 1.000 78 0% 71 42.3% 1 100% unknown(0) deleterious(0) - HMMPfam_Collagen MON1A 84315 genome.wustl.edu 37 3 49948054 49948054 + Missense_Mutation SNP C C A novel TCGA-D1-A161-01A-11D-A122-09 TCGA-D1-A161-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 16ee2634-8879-4eee-9e73-392a8ed0a803 bdb2d6fb-4d73-4129-8d87-daecdaf7d00d NM_032355.3 -1 validated p.A390S 1.000 34 0% 26 26.9% 17 64.7% possibly_damaging(0.575) deleterious(0.01) deleterious(0.603) HMMPfam_Mon1 DOCK3 1795 genome.wustl.edu 37 3 51352435 51352435 + Missense_Mutation SNP C C T novel TCGA-D1-A161-01A-11D-A122-09 TCGA-D1-A161-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 16ee2634-8879-4eee-9e73-392a8ed0a803 bdb2d6fb-4d73-4129-8d87-daecdaf7d00d NM_004947.3 +1 validated p.P1093L 1.000 141 0% 96 37.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL DNAH12 201625 genome.wustl.edu 37 3 57489923 57489923 + Silent SNP A A G novel TCGA-D1-A161-01A-11D-A122-09 TCGA-D1-A161-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 16ee2634-8879-4eee-9e73-392a8ed0a803 bdb2d6fb-4d73-4129-8d87-daecdaf7d00d NM_178504.4 -1 validated p.D302 0.356 164 0% 137 36.5% 0 - - - - NULL LOC100289491 100289491 genome.wustl.edu 37 3 149093474 149093474 + Nonsense_Mutation SNP C C A novel TCGA-D1-A161-01A-11D-A122-09 TCGA-D1-A161-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 16ee2634-8879-4eee-9e73-392a8ed0a803 bdb2d6fb-4d73-4129-8d87-daecdaf7d00d XM_002342377.1 +1 model p.S41* 0.989 164 0% 134 31.3% 43 44.1% possibly_damaging(0.847) deleterious(0.04) deleterious(0.674) NULL BCHE 590 genome.wustl.edu 37 3 165548253 165548253 + Missense_Mutation SNP G G T novel TCGA-D1-A161-01A-11D-A122-09 TCGA-D1-A161-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 16ee2634-8879-4eee-9e73-392a8ed0a803 bdb2d6fb-4d73-4129-8d87-daecdaf7d00d NM_000055.2 -1 reviewed p.A190D 0.466 209 0% 174 44.3% 0 - probably_damaging(0.989) deleterious(0) deleterious(0.884) HMMPfam_COesterase,superfamily_SSF53474 MECOM 2122 genome.wustl.edu 37 3 168834483 168834483 + Missense_Mutation SNP G G T novel TCGA-D1-A161-01A-11D-A122-09 TCGA-D1-A161-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 16ee2634-8879-4eee-9e73-392a8ed0a803 bdb2d6fb-4d73-4129-8d87-daecdaf7d00d ENST00000494292 -1 known p.R393S 1.000 897 0% 666 37.1% 11 27.2% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers PIK3CA 5290 genome.wustl.edu 37 3 178948044 178948044 + Missense_Mutation SNP A A G novel TCGA-D1-A161-01A-11D-A122-09 TCGA-D1-A161-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 16ee2634-8879-4eee-9e73-392a8ed0a803 bdb2d6fb-4d73-4129-8d87-daecdaf7d00d NM_006218.2 +1 reviewed p.D939G 1.000 125 0% 129 31% 16 56.2% benign(0.006) tolerated(1) - HMMPfam_PI3_PI4_kinase,HMMSmart_PI3Kc,superfamily_Kinase_like PCYT1A 5130 genome.wustl.edu 37 3 195974340 195974340 + Silent SNP G G A novel TCGA-D1-A161-01A-11D-A122-09 TCGA-D1-A161-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 16ee2634-8879-4eee-9e73-392a8ed0a803 bdb2d6fb-4d73-4129-8d87-daecdaf7d00d NM_005017.2 -1 provisional p.N128 0.798 275 0% 185 43.8% 8 62.5% - - - HMMPfam_CTP_transf_2,superfamily_SSF52374 N4BP2 55728 genome.wustl.edu 37 4 40103821 40103821 + Missense_Mutation SNP A A G novel TCGA-D1-A161-01A-11D-A122-09 TCGA-D1-A161-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 16ee2634-8879-4eee-9e73-392a8ed0a803 bdb2d6fb-4d73-4129-8d87-daecdaf7d00d NM_018177.3 +1 reviewed p.K119R 0.005 175 0% 136 40.4% 0 - possibly_damaging(0.653) tolerated(0.55) neutral(0.237) NULL UBA6 55236 genome.wustl.edu 37 4 68488921 68488921 + Missense_Mutation SNP T T C novel TCGA-D1-A161-01A-11D-A122-09 TCGA-D1-A161-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 16ee2634-8879-4eee-9e73-392a8ed0a803 bdb2d6fb-4d73-4129-8d87-daecdaf7d00d NM_018227.5 -1 validated p.I954V 1.000 272 0% 181 38.7% 21 38% benign(0.01) tolerated(0.14) neutral(0.250) HMMPfam_UBA_e1_C UGT2B4 7363 genome.wustl.edu 37 4 70361303 70361303 + Silent SNP G G A novel TCGA-D1-A161-01A-11D-A122-09 TCGA-D1-A161-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 16ee2634-8879-4eee-9e73-392a8ed0a803 bdb2d6fb-4d73-4129-8d87-daecdaf7d00d NM_021139.2 -1 validated p.L93 0.000 247 0% 180 45% 0 - - - - HMMPfam_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase FAM13A 10144 genome.wustl.edu 37 4 89679904 89679904 + Splice_Site SNP C C G novel TCGA-D1-A161-01A-11D-A122-09 TCGA-D1-A161-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 16ee2634-8879-4eee-9e73-392a8ed0a803 bdb2d6fb-4d73-4129-8d87-daecdaf7d00d NM_014883.2 -1 validated e14+1 1.000 245 0% 171 40.4% 0 - - - - - PDE5A 8654 genome.wustl.edu 37 4 120528047 120528047 + Silent SNP G G A novel TCGA-D1-A161-01A-11D-A122-09 TCGA-D1-A161-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 16ee2634-8879-4eee-9e73-392a8ed0a803 bdb2d6fb-4d73-4129-8d87-daecdaf7d00d NM_001083.3 -1 reviewed p.S186 1.000 230 0% 148 37.2% 1 0% - - - HMMPfam_GAF,HMMSmart_SM00065,superfamily_GAF domain-like LOC100130803 100130803 genome.wustl.edu 37 5 29600878 29600878 + Silent SNP G G A novel TCGA-D1-A161-01A-11D-A122-09 TCGA-D1-A161-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 16ee2634-8879-4eee-9e73-392a8ed0a803 bdb2d6fb-4d73-4129-8d87-daecdaf7d00d XM_001722411.1 +1 model p.A55 0.866 8 0.000 18 0.722 0 - - - - superfamily_Ubiquitin-like IL31RA 133396 genome.wustl.edu 37 5 55185891 55185891 + Nonsense_Mutation SNP C C T novel TCGA-D1-A161-01A-11D-A122-09 TCGA-D1-A161-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 16ee2634-8879-4eee-9e73-392a8ed0a803 bdb2d6fb-4d73-4129-8d87-daecdaf7d00d NM_139017.4 +1 validated p.R234* 0.510 322 0% 265 47.2% 0 - - - - HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like PIK3R1 5295 genome.wustl.edu 37 5 67589223 67589225 + In_Frame_Del DEL TAA TAA - novel TCGA-D1-A161-01A-11D-A122-09 TCGA-D1-A161-10A-01D-A122-09 TAA TAA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 16ee2634-8879-4eee-9e73-392a8ed0a803 bdb2d6fb-4d73-4129-8d87-daecdaf7d00d NM_181523.1 +1 reviewed p.I405in_frame_del 1.000:1.000:1.000 - - - - - - - - - HMMPfam_SH2,HMMSmart_SM00252,superfamily_SH2 domain ANKRD31 256006 genome.wustl.edu 37 5 74442120 74442120 + Missense_Mutation SNP G G A novel TCGA-D1-A161-01A-11D-A122-09 TCGA-D1-A161-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 16ee2634-8879-4eee-9e73-392a8ed0a803 bdb2d6fb-4d73-4129-8d87-daecdaf7d00d ENST00000274361 -1 known p.P1039L 0.000 211 0% 156 40.4% 0 - possibly_damaging(0.839) - - superfamily_ANK ACSL6 23305 genome.wustl.edu 37 5 131305834 131305834 + Silent SNP G G A novel TCGA-D1-A161-01A-11D-A122-09 TCGA-D1-A161-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 16ee2634-8879-4eee-9e73-392a8ed0a803 bdb2d6fb-4d73-4129-8d87-daecdaf7d00d NM_001009185.1 -1 validated p.G498 0.999 197 0% 128 32.8% 0 - - - - HMMPfam_AMP-binding,superfamily_SSF56801 PCDHB18 54660 genome.wustl.edu 37 5 140615716 140615716 + Silent SNP C C T novel TCGA-D1-A161-01A-11D-A122-09 TCGA-D1-A161-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 16ee2634-8879-4eee-9e73-392a8ed0a803 bdb2d6fb-4d73-4129-8d87-daecdaf7d00d ENST00000274705 +1 known p.R477 0.008 47 0% 47 42.6% 0 - - - - HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin CPEB4 80315 genome.wustl.edu 37 5 173372107 173372107 + Missense_Mutation SNP G G T novel TCGA-D1-A161-01A-11D-A122-09 TCGA-D1-A161-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 16ee2634-8879-4eee-9e73-392a8ed0a803 bdb2d6fb-4d73-4129-8d87-daecdaf7d00d NM_030627.2 +1 validated p.V474L 1.000 327 0% 203 41.4% 0 - possibly_damaging(0.929) deleterious(0.04) deleterious(0.725) HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD BTNL9 153579 genome.wustl.edu 37 5 180477302 180477302 + Silent SNP C C T novel TCGA-D1-A161-01A-11D-A122-09 TCGA-D1-A161-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 16ee2634-8879-4eee-9e73-392a8ed0a803 bdb2d6fb-4d73-4129-8d87-daecdaf7d00d NM_152547.4 +1 validated p.S223 0.081 133 0% 93 46.2% 1 0% - - - superfamily_Immunoglobulin RNGTT 8732 genome.wustl.edu 37 6 89554167 89554167 + Missense_Mutation SNP T T G novel TCGA-D1-A161-01A-11D-A122-09 TCGA-D1-A161-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 16ee2634-8879-4eee-9e73-392a8ed0a803 bdb2d6fb-4d73-4129-8d87-daecdaf7d00d NM_003800.3 -1 validated p.H393P 1.000 540 0% 335 41.2% 2 0% possibly_damaging(0.744) tolerated(0.2) neutral(0.322) HMMPfam_mRNA_cap_enzyme,superfamily_DNA ligase/mRNA capping enzyme catalytic domain MDN1 23195 genome.wustl.edu 37 6 90426502 90426502 + Nonsense_Mutation SNP G G A novel TCGA-D1-A161-01A-11D-A122-09 TCGA-D1-A161-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 16ee2634-8879-4eee-9e73-392a8ed0a803 bdb2d6fb-4d73-4129-8d87-daecdaf7d00d NM_014611.1 -1 provisional p.R2204* 1.000 162 0.6% 111 35.1% 0 - - - - HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases LATS1 9113 genome.wustl.edu 37 6 149997763 149997772 + Frame_Shift_Del DEL GCTGGCGTGC GCTGGCGTGC - novel TCGA-D1-A161-01A-11D-A122-09 TCGA-D1-A161-10A-01D-A122-09 GCTGGCGTGC GCTGGCGTGC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 16ee2634-8879-4eee-9e73-392a8ed0a803 bdb2d6fb-4d73-4129-8d87-daecdaf7d00d NM_004690.2 -1 reviewed p.A899fs 1.000:1.000:1.000:1.000:0.968:1.000:1.000:0.998:1.000:1.000 - - - - - - - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase ZNF273 10793 genome.wustl.edu 37 7 64388797 64388797 + Missense_Mutation SNP A A G novel TCGA-D1-A161-01A-11D-A122-09 TCGA-D1-A161-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 16ee2634-8879-4eee-9e73-392a8ed0a803 bdb2d6fb-4d73-4129-8d87-daecdaf7d00d NM_021148.2 +1 reviewed p.H364R 0.995 68 0% 52 32.7% 6 100% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF394 84124 genome.wustl.edu 37 7 99096379 99096379 + Silent SNP T T C novel TCGA-D1-A161-01A-11D-A122-09 TCGA-D1-A161-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 16ee2634-8879-4eee-9e73-392a8ed0a803 bdb2d6fb-4d73-4129-8d87-daecdaf7d00d NM_032164.2 -1 provisional p.R181 0.025 108 0% 87 39.1% 3 100% - - - HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) DOCK4 9732 genome.wustl.edu 37 7 111638537 111638537 + Missense_Mutation SNP C C T rs147439564 by1000genomes TCGA-D1-A161-01A-11D-A122-09 TCGA-D1-A161-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 16ee2634-8879-4eee-9e73-392a8ed0a803 bdb2d6fb-4d73-4129-8d87-daecdaf7d00d NM_014705.3 -1 reviewed p.V62I 0.953 420 0% 332 34% 0 - benign(0) tolerated(1) - HMMSmart_SM00326,superfamily_SH3-domain,HMMPfam_SH3_2 GIMAP5 55340 genome.wustl.edu 37 7 150439304 150439304 + Missense_Mutation SNP C C T novel TCGA-D1-A161-01A-11D-A122-09 TCGA-D1-A161-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 16ee2634-8879-4eee-9e73-392a8ed0a803 bdb2d6fb-4d73-4129-8d87-daecdaf7d00d NM_018384.3 +1 reviewed p.P26L 0.000 80 0% 47 36.2% 5 0% benign(0.004) tolerated(0.05) neutral(0.345) superfamily_P-loop containing nucleoside triphosphate hydrolases SLC30A8 169026 genome.wustl.edu 37 8 118170052 118170052 + Missense_Mutation SNP G G A novel TCGA-D1-A161-01A-11D-A122-09 TCGA-D1-A161-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 16ee2634-8879-4eee-9e73-392a8ed0a803 bdb2d6fb-4d73-4129-8d87-daecdaf7d00d NM_173851.2 +1 reviewed p.V181I 0.957 418 0% 249 39% 0 - possibly_damaging(0.49) tolerated(0.09) neutral(0.460) HMMPfam_Cation_efflux KLHL38 340359 genome.wustl.edu 37 8 124665026 124665026 + Silent SNP G G A novel TCGA-D1-A161-01A-11D-A122-09 TCGA-D1-A161-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 16ee2634-8879-4eee-9e73-392a8ed0a803 bdb2d6fb-4d73-4129-8d87-daecdaf7d00d NM_001081675.2 -1 validated p.C47 1.000 78 0% 53 43.4% 0 - - - - HMMSmart_SM00225,superfamily_POZ domain,HMMPfam_BTB SLC18A3 6572 genome.wustl.edu 37 10 50820176 50820176 + Missense_Mutation SNP C C T novel TCGA-D1-A161-01A-11D-A122-09 TCGA-D1-A161-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 16ee2634-8879-4eee-9e73-392a8ed0a803 bdb2d6fb-4d73-4129-8d87-daecdaf7d00d NM_003055.2 +1 reviewed p.P464S 1.000 41 0% 22 31.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_MFS general substrate transporter OGDHL 55753 genome.wustl.edu 37 10 50966551 50966551 + Missense_Mutation SNP G G A novel TCGA-D1-A161-01A-11D-A122-09 TCGA-D1-A161-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 16ee2634-8879-4eee-9e73-392a8ed0a803 bdb2d6fb-4d73-4129-8d87-daecdaf7d00d NM_018245.2 -1 validated p.R30C 0.005 34 0% 42 31% 2 50% benign(0) deleterious(0.01) neutral(0.406) NULL MYPN 84665 genome.wustl.edu 37 10 69955261 69955261 + Silent SNP C C A novel TCGA-D1-A161-01A-11D-A122-09 TCGA-D1-A161-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 16ee2634-8879-4eee-9e73-392a8ed0a803 bdb2d6fb-4d73-4129-8d87-daecdaf7d00d NM_032578.2 +1 validated p.R1044 0.990 168 0.6% 145 27.6% 0 - - - - NULL GRID1 2894 genome.wustl.edu 37 10 87362131 87362131 + Missense_Mutation SNP G G A novel TCGA-D1-A161-01A-11D-A122-09 TCGA-D1-A161-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 16ee2634-8879-4eee-9e73-392a8ed0a803 bdb2d6fb-4d73-4129-8d87-daecdaf7d00d NM_017551.2 -1 reviewed p.R977W 1.000 78 0% 68 35.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL PTEN 5728 genome.wustl.edu 37 10 89720751 89720755 + Frame_Shift_Del DEL ATAGC ATAGC - novel TCGA-D1-A161-01A-11D-A122-09 TCGA-D1-A161-10A-01D-A122-09 ATAGC ATAGC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 16ee2634-8879-4eee-9e73-392a8ed0a803 bdb2d6fb-4d73-4129-8d87-daecdaf7d00d ENST00000371953 +1 known p.S302fs 1.000:1.000:1.000:1.000:0.983 - - - - - - - - - superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_PTEN_C2 FGFR2 2263 genome.wustl.edu 37 10 123274774 123274774 + Missense_Mutation SNP A A G rs121913474 TCGA-D1-A161-01A-11D-A122-09 TCGA-D1-A161-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 16ee2634-8879-4eee-9e73-392a8ed0a803 bdb2d6fb-4d73-4129-8d87-daecdaf7d00d NM_022970.3 -1 reviewed p.C383R 1.000 217 0% 188 28.7% 68 44.1% possibly_damaging(0.477) deleterious(0.01) deleterious(0.563) NULL PDDC1 347862 genome.wustl.edu 37 11 775135 775135 + Silent SNP C C T novel TCGA-D1-A161-01A-11D-A122-09 TCGA-D1-A161-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 16ee2634-8879-4eee-9e73-392a8ed0a803 bdb2d6fb-4d73-4129-8d87-daecdaf7d00d NM_182612.2 -1 validated p.S24 0.408 80 0% 48 35.4% 18 50% - - - superfamily_Class I glutamine amidotransferase-like MUC6 4588 genome.wustl.edu 37 11 1031224 1031224 + Silent SNP G G A novel TCGA-D1-A161-01A-11D-A122-09 TCGA-D1-A161-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 16ee2634-8879-4eee-9e73-392a8ed0a803 bdb2d6fb-4d73-4129-8d87-daecdaf7d00d NM_005961.2 -1 validated p.C173 0.406 74 0% 43 25.6% 0 - - - - HMMPfam_VWD,HMMSmart_SM00216 TRIM3 10612 genome.wustl.edu 37 11 6478552 6478552 + Missense_Mutation SNP C C T novel TCGA-D1-A161-01A-11D-A122-09 TCGA-D1-A161-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 16ee2634-8879-4eee-9e73-392a8ed0a803 bdb2d6fb-4d73-4129-8d87-daecdaf7d00d NM_006458.2 -1 reviewed p.E224K 1.000 80 0% 66 12.1% 12 16.6% - - - HMMSmart_SM00502 IGSF22 283284 genome.wustl.edu 37 11 18732213 18732213 + Missense_Mutation SNP T T A novel TCGA-D1-A161-01A-11D-A122-09 TCGA-D1-A161-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 16ee2634-8879-4eee-9e73-392a8ed0a803 bdb2d6fb-4d73-4129-8d87-daecdaf7d00d NM_173588.3 -1 validated p.D753V 1.000 131 0% 95 36.8% 0 - benign(0.096) tolerated(0.29) neutral(0.036) HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like OR5B21 219968 genome.wustl.edu 37 11 58275484 58275484 + Missense_Mutation SNP A A G novel TCGA-D1-A161-01A-11D-A122-09 TCGA-D1-A161-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 16ee2634-8879-4eee-9e73-392a8ed0a803 bdb2d6fb-4d73-4129-8d87-daecdaf7d00d NM_001005218.1 -1 provisional p.I32T 0.087 117 0% 83 43.4% 0 - benign(0.107) deleterious(0.01) neutral(0.414) superfamily_SSF81321 ARHGEF17 9828 genome.wustl.edu 37 11 73021006 73021006 + Silent SNP C C T novel TCGA-D1-A161-01A-11D-A122-09 TCGA-D1-A161-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 16ee2634-8879-4eee-9e73-392a8ed0a803 bdb2d6fb-4d73-4129-8d87-daecdaf7d00d NM_014786.3 +1 validated p.G441 0.060 56 0% 35 34.3% 1 0% - - - NULL MOGAT2 80168 genome.wustl.edu 37 11 75439071 75439071 + Missense_Mutation SNP G G A rs61897998 TCGA-D1-A161-01A-11D-A122-09 TCGA-D1-A161-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 16ee2634-8879-4eee-9e73-392a8ed0a803 bdb2d6fb-4d73-4129-8d87-daecdaf7d00d NM_025098.2 +1 provisional p.G178R 0.991 160 0% 88 39.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DAGAT FAM90A1 55138 genome.wustl.edu 37 12 8377327 8377327 + Silent SNP C C T novel TCGA-D1-A161-01A-11D-A122-09 TCGA-D1-A161-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 16ee2634-8879-4eee-9e73-392a8ed0a803 bdb2d6fb-4d73-4129-8d87-daecdaf7d00d NM_018088.3 -1 validated p.P34 0.000 199 0% 118 25.4% 0 - - - - NULL TAS2R10 50839 genome.wustl.edu 37 12 10978520 10978520 + Missense_Mutation SNP T T A novel TCGA-D1-A161-01A-11D-A122-09 TCGA-D1-A161-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 16ee2634-8879-4eee-9e73-392a8ed0a803 bdb2d6fb-4d73-4129-8d87-daecdaf7d00d NM_023921.1 -1 reviewed p.I117L 0.002 80 0% 80 43.8% 0 - benign(0.011) tolerated(1) neutral(0.001) HMMPfam_TAS2R,superfamily_Family A G protein-coupled receptor-like PTPRO 5800 genome.wustl.edu 37 12 15702065 15702065 + Missense_Mutation SNP C C T novel TCGA-D1-A161-01A-11D-A122-09 TCGA-D1-A161-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 16ee2634-8879-4eee-9e73-392a8ed0a803 bdb2d6fb-4d73-4129-8d87-daecdaf7d00d NM_030667.1 +1 reviewed p.S781F 1.000 290 0% 178 40.4% 0 - probably_damaging(0.991) deleterious(0) deleterious(0.889) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III SLC48A1 55652 genome.wustl.edu 37 12 48172970 48172970 + Missense_Mutation SNP G G A novel TCGA-D1-A161-01A-11D-A122-09 TCGA-D1-A161-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 16ee2634-8879-4eee-9e73-392a8ed0a803 bdb2d6fb-4d73-4129-8d87-daecdaf7d00d NM_017842.2 +1 validated p.R99Q 0.007 165 0% 137 42.3% 14 50% benign(0) tolerated(0.51) neutral(0.009) NULL ANKRD52 283373 genome.wustl.edu 37 12 56637893 56637893 + Missense_Mutation SNP T T G novel TCGA-D1-A161-01A-11D-A122-09 TCGA-D1-A161-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 16ee2634-8879-4eee-9e73-392a8ed0a803 bdb2d6fb-4d73-4129-8d87-daecdaf7d00d NM_173595.3 -1 validated p.I944L 1.000 320 0% 206 34.5% 7 42.8% benign(0.001) tolerated(1) - HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK IRAK3 11213 genome.wustl.edu 37 12 66641487 66641487 + Missense_Mutation SNP C C T novel TCGA-D1-A161-01A-11D-A122-09 TCGA-D1-A161-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 16ee2634-8879-4eee-9e73-392a8ed0a803 bdb2d6fb-4d73-4129-8d87-daecdaf7d00d NM_007199.2 +1 reviewed p.L443F 0.770 199 0% 158 43.7% 3 66.6% probably_damaging(0.999) tolerated(0.22) deleterious(0.532) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) C12orf63 374467 genome.wustl.edu 37 12 97114341 97114341 + Nonsense_Mutation SNP C C G novel TCGA-D1-A161-01A-11D-A122-09 TCGA-D1-A161-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 16ee2634-8879-4eee-9e73-392a8ed0a803 bdb2d6fb-4d73-4129-8d87-daecdaf7d00d NM_198520.2 +1 validated p.Y746* 1.000 113 0% 81 37% 0 - - - - NULL VPS37B 79720 genome.wustl.edu 37 12 123380553 123380553 + Missense_Mutation SNP G G C novel TCGA-D1-A161-01A-11D-A122-09 TCGA-D1-A161-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 16ee2634-8879-4eee-9e73-392a8ed0a803 bdb2d6fb-4d73-4129-8d87-daecdaf7d00d NM_024667.2 -1 validated p.N19K 1.000 28 0% 25 40% 12 83.3% benign(0.039) tolerated(0.43) neutral(0.015) HMMPfam_Mod_r NCOR2 9612 genome.wustl.edu 37 12 124829317 124829317 + Missense_Mutation SNP T T C novel TCGA-D1-A161-01A-11D-A122-09 TCGA-D1-A161-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 16ee2634-8879-4eee-9e73-392a8ed0a803 bdb2d6fb-4d73-4129-8d87-daecdaf7d00d NM_006312.3 -1 validated p.T1521A 0.003 41 0% 33 45.5% 27 37% benign(0.003) tolerated(0.53) neutral(0.007) NULL SLITRK1 114798 genome.wustl.edu 37 13 84454828 84454828 + Missense_Mutation SNP G G A novel TCGA-D1-A161-01A-11D-A122-09 TCGA-D1-A161-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 16ee2634-8879-4eee-9e73-392a8ed0a803 bdb2d6fb-4d73-4129-8d87-daecdaf7d00d NM_052910.1 -1 reviewed p.P272L 0.993 277 0% 195 41.5% 0 - benign(0.005) tolerated(0.21) neutral(0.044) superfamily_SSF52058 KIAA0586 9786 genome.wustl.edu 37 14 58953772 58953772 + Silent SNP C C T novel TCGA-D1-A161-01A-11D-A122-09 TCGA-D1-A161-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 16ee2634-8879-4eee-9e73-392a8ed0a803 bdb2d6fb-4d73-4129-8d87-daecdaf7d00d NM_014749.3 +1 validated p.C988 0.005 307 0.3% 197 40.6% 2 100% - - - NULL TNFAIP2 7127 genome.wustl.edu 37 14 103596437 103596437 + Silent SNP C C T novel TCGA-D1-A161-01A-11D-A122-09 TCGA-D1-A161-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 16ee2634-8879-4eee-9e73-392a8ed0a803 bdb2d6fb-4d73-4129-8d87-daecdaf7d00d NM_006291.2 +1 reviewed p.S358 0.979 31 0% 33 54.5% 53 30.1% - - - HMMPfam_Sec6 ENSG00000245986 0 genome.wustl.edu 37 16 784935 784935 + RNA SNP C C T novel TCGA-D1-A161-01A-11D-A122-09 TCGA-D1-A161-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 16ee2634-8879-4eee-9e73-392a8ed0a803 bdb2d6fb-4d73-4129-8d87-daecdaf7d00d ENST00000502230 +1 known NULL 0.000 38 0% 27 44.4% 0 - - - - - DNASE1L2 1775 genome.wustl.edu 37 16 2287847 2287847 + Missense_Mutation SNP G G A novel TCGA-D1-A161-01A-11D-A122-09 TCGA-D1-A161-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 16ee2634-8879-4eee-9e73-392a8ed0a803 bdb2d6fb-4d73-4129-8d87-daecdaf7d00d NM_001374.2 +1 validated p.S224N 0.981 19 0% 13 38.5% 18 50% possibly_damaging(0.948) tolerated(0.06) deleterious(0.714) HMMPfam_Exo_endo_phos,superfamily_DNase I-like,HMMSmart_SM00476 CTCF 10664 genome.wustl.edu 37 16 67654681 67654682 + Frame_Shift_Ins INS - - GT novel TCGA-D1-A161-01A-11D-A122-09 TCGA-D1-A161-10A-01D-A122-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 16ee2634-8879-4eee-9e73-392a8ed0a803 bdb2d6fb-4d73-4129-8d87-daecdaf7d00d NM_006565.2 +1 reviewed p.D390fs 1.000:1.000 - - - - - - - - - HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers SLC12A4 6560 genome.wustl.edu 37 16 67995580 67995580 + Silent SNP C C G novel TCGA-D1-A161-01A-11D-A122-09 TCGA-D1-A161-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 16ee2634-8879-4eee-9e73-392a8ed0a803 bdb2d6fb-4d73-4129-8d87-daecdaf7d00d NM_005072.4 -1 validated p.S80 1.000 202 0% 134 45.5% 4 0% - - - NULL SLC7A5 8140 genome.wustl.edu 37 16 87873316 87873316 + Missense_Mutation SNP C C T novel TCGA-D1-A161-01A-11D-A122-09 TCGA-D1-A161-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 16ee2634-8879-4eee-9e73-392a8ed0a803 bdb2d6fb-4d73-4129-8d87-daecdaf7d00d NM_003486.5 -1 validated p.V311M 1.000 97 0% 53 32.1% 9 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_AA_permease PRPF8 10594 genome.wustl.edu 37 17 1561558 1561558 + Missense_Mutation SNP G G A novel TCGA-D1-A161-01A-11D-A122-09 TCGA-D1-A161-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 16ee2634-8879-4eee-9e73-392a8ed0a803 bdb2d6fb-4d73-4129-8d87-daecdaf7d00d NM_006445.3 -1 reviewed p.R1832C 1.000 269 0% 227 41.9% 62 37% probably_damaging(1) deleterious(0) deleterious(0.945) NULL WSCD1 23302 genome.wustl.edu 37 17 6023842 6023842 + Missense_Mutation SNP G G A novel TCGA-D1-A161-01A-11D-A122-09 TCGA-D1-A161-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 16ee2634-8879-4eee-9e73-392a8ed0a803 bdb2d6fb-4d73-4129-8d87-daecdaf7d00d NM_015253.1 +1 validated p.R530Q 1.000 29 0% 27 48.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF52540 SLC2A4 6517 genome.wustl.edu 37 17 7188431 7188431 + Missense_Mutation SNP C C T novel TCGA-D1-A161-01A-11D-A122-09 TCGA-D1-A161-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 16ee2634-8879-4eee-9e73-392a8ed0a803 bdb2d6fb-4d73-4129-8d87-daecdaf7d00d NM_001042.2 +1 reviewed p.R349C 1.000 62 0% 45 44.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Sugar_tr,PatternScan_SUGAR_TRANSPORT_1,superfamily_MFS_gen_substrate_transporter TP53 7157 genome.wustl.edu 37 17 7579330 7579330 + Silent SNP G G C novel TCGA-D1-A161-01A-11D-A122-09 TCGA-D1-A161-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 16ee2634-8879-4eee-9e73-392a8ed0a803 bdb2d6fb-4d73-4129-8d87-daecdaf7d00d NM_000546.4 -1 reviewed p.A119 1.000 48 0% 41 41.5% 33 48.4% - - - superfamily_p53-like transcription factors,HMMPfam_P53 MYH4 4622 genome.wustl.edu 37 17 10352032 10352032 + Silent SNP C C T novel TCGA-D1-A161-01A-11D-A122-09 TCGA-D1-A161-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 16ee2634-8879-4eee-9e73-392a8ed0a803 bdb2d6fb-4d73-4129-8d87-daecdaf7d00d NM_017533.2 -1 validated p.S1478 0.988 174 0.6% 148 41.9% 0 - - - - HMMPfam_Myosin_tail_1 VTN 7448 genome.wustl.edu 37 17 26695967 26695967 + Missense_Mutation SNP G G A novel TCGA-D1-A161-01A-11D-A122-09 TCGA-D1-A161-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 16ee2634-8879-4eee-9e73-392a8ed0a803 bdb2d6fb-4d73-4129-8d87-daecdaf7d00d NM_000638.3 -1 reviewed p.P251L 0.998 79 0% 56 42.9% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Hemopexin,HMMPfam_Hemopexin,HMMSmart_HX ERBB2 2064 genome.wustl.edu 37 17 37881332 37881332 + Missense_Mutation SNP G G A novel TCGA-D1-A161-01A-11D-A122-09 TCGA-D1-A161-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 16ee2634-8879-4eee-9e73-392a8ed0a803 bdb2d6fb-4d73-4129-8d87-daecdaf7d00d NM_004448.2 +1 reviewed p.V842I 1.000 69 0% 75 61.3% 63 49.2% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_TYR,superfamily_Protein kinase-like (PK-like) SLC4A1 6521 genome.wustl.edu 37 17 42335141 42335141 + Silent SNP C C T novel TCGA-D1-A161-01A-11D-A122-09 TCGA-D1-A161-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 16ee2634-8879-4eee-9e73-392a8ed0a803 bdb2d6fb-4d73-4129-8d87-daecdaf7d00d NM_000342.3 -1 reviewed p.E439 0.998 123 0% 78 41% 0 - - - - HMMPfam_HCO3_cotransp ABCA9 10350 genome.wustl.edu 37 17 66981057 66981057 + Missense_Mutation SNP C C A novel TCGA-D1-A161-01A-11D-A122-09 TCGA-D1-A161-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 16ee2634-8879-4eee-9e73-392a8ed0a803 bdb2d6fb-4d73-4129-8d87-daecdaf7d00d NM_080283.3 -1 reviewed p.G1450W 0.999 168 0% 107 38.3% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases DNAH17 8632 genome.wustl.edu 37 17 76503569 76503569 + Missense_Mutation SNP G G A novel TCGA-D1-A161-01A-11D-A122-09 TCGA-D1-A161-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 16ee2634-8879-4eee-9e73-392a8ed0a803 bdb2d6fb-4d73-4129-8d87-daecdaf7d00d ENST00000389840 -1 known p.R1515C 0.714 125 0% 81 29.6% 0 - probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_DHC_N2 SMAD7 4092 genome.wustl.edu 37 18 46448066 46448066 + Nonsense_Mutation SNP G G T novel TCGA-D1-A161-01A-11D-A122-09 TCGA-D1-A161-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 16ee2634-8879-4eee-9e73-392a8ed0a803 bdb2d6fb-4d73-4129-8d87-daecdaf7d00d NM_005904.2 -1 provisional p.C319* 0.567 70 0% 53 41.5% 10 30% - - - HMMPfam_MH2,HMMSmart_DWB,superfamily_SMAD_FHA ACP5 54 genome.wustl.edu 37 19 11687262 11687262 + Silent SNP G G A novel TCGA-D1-A161-01A-11D-A122-09 TCGA-D1-A161-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 16ee2634-8879-4eee-9e73-392a8ed0a803 bdb2d6fb-4d73-4129-8d87-daecdaf7d00d NM_001111034.1 -1 reviewed p.D177 0.001 131 0% 75 42.7% 25 16% - - - HMMPfam_Metallophos,superfamily_SSF56300 BEST2 54831 genome.wustl.edu 37 19 12865502 12865502 + Silent SNP C C A novel TCGA-D1-A161-01A-11D-A122-09 TCGA-D1-A161-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 16ee2634-8879-4eee-9e73-392a8ed0a803 bdb2d6fb-4d73-4129-8d87-daecdaf7d00d NM_017682.2 +1 reviewed p.L128 1.000 25 0% 22 27.3% 0 - - - - HMMPfam_Bestrophin FCHO1 23149 genome.wustl.edu 37 19 17893882 17893882 + Missense_Mutation SNP G G A novel TCGA-D1-A161-01A-11D-A122-09 TCGA-D1-A161-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 16ee2634-8879-4eee-9e73-392a8ed0a803 bdb2d6fb-4d73-4129-8d87-daecdaf7d00d NM_015122.2 +1 validated p.R665H 1.000 178 0% 107 45.8% 2 0% probably_damaging(1) tolerated(0.12) deleterious(0.760) HMMPfam_SAFF PRODH2 58510 genome.wustl.edu 37 19 36290964 36290964 + Frame_Shift_Del DEL T T - novel TCGA-D1-A161-01A-11D-A122-09 TCGA-D1-A161-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 16ee2634-8879-4eee-9e73-392a8ed0a803 bdb2d6fb-4d73-4129-8d87-daecdaf7d00d NM_021232.1 -1 reviewed p.G530fs 0.021 - - - - - - - - - NULL ARHGAP35 2909 genome.wustl.edu 37 19 47502649 47502649 + Silent SNP C C T novel TCGA-D1-A161-01A-11D-A122-09 TCGA-D1-A161-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 16ee2634-8879-4eee-9e73-392a8ed0a803 bdb2d6fb-4d73-4129-8d87-daecdaf7d00d NM_004491.4 +1 reviewed p.V1375 1.000 206 0% 174 37.4% 26 50% - - - HMMPfam_RhoGAP,HMMSmart_SM00324,superfamily_GTPase activation domain GAP DHX34 9704 genome.wustl.edu 37 19 47865777 47865777 + Missense_Mutation SNP C C T novel TCGA-D1-A161-01A-11D-A122-09 TCGA-D1-A161-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 16ee2634-8879-4eee-9e73-392a8ed0a803 bdb2d6fb-4d73-4129-8d87-daecdaf7d00d NM_014681.5 +1 reviewed p.R474W 1.000 53 0% 25 36% 13 23% probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_Helicase_C,HMMSmart_SM00490,superfamily_P-loop containing nucleoside triphosphate hydrolases ENSG00000171101 0 genome.wustl.edu 37 19 51671085 51671085 + Silent SNP G G A novel TCGA-D1-A161-01A-11D-A122-09 TCGA-D1-A161-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 16ee2634-8879-4eee-9e73-392a8ed0a803 bdb2d6fb-4d73-4129-8d87-daecdaf7d00d ENST00000341811 +1 known p.A97 0.000 27 0% 36 33.3% 0 - - - - HMMSmart_IG,superfamily_SSF48726 KIR3DL2 3812 genome.wustl.edu 37 19 55365455 55365455 + Silent SNP C C A novel TCGA-D1-A161-01A-11D-A122-09 TCGA-D1-A161-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 16ee2634-8879-4eee-9e73-392a8ed0a803 bdb2d6fb-4d73-4129-8d87-daecdaf7d00d NM_006737.2 +1 reviewed p.P203 0.000 333 0% 224 33.5% 0 - - - - superfamily_SSF48726 SEL1L2 80343 genome.wustl.edu 37 20 13856737 13856737 + Missense_Mutation SNP C C T novel TCGA-D1-A161-01A-11D-A122-09 TCGA-D1-A161-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 16ee2634-8879-4eee-9e73-392a8ed0a803 bdb2d6fb-4d73-4129-8d87-daecdaf7d00d NM_025229.1 -1 validated p.V351M 1.000 274 0% 165 37% 0 - benign(0.139) tolerated(0.07) neutral(0.331) HMMPfam_Sel1,HMMSmart_SEL1,superfamily_SSF81901 SSTR4 6754 genome.wustl.edu 37 20 23016449 23016449 + Missense_Mutation SNP G G A novel TCGA-D1-A161-01A-11D-A122-09 TCGA-D1-A161-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 16ee2634-8879-4eee-9e73-392a8ed0a803 bdb2d6fb-4d73-4129-8d87-daecdaf7d00d NM_001052.2 +1 validated p.R110H 0.992 60 0% 30 56.7% 0 - benign(0.043) tolerated(0.28) neutral(0.034) HMMPfam_7tm_1,superfamily_SSF81321 MYH7B 57644 genome.wustl.edu 37 20 33587061 33587061 + Missense_Mutation SNP C C T novel TCGA-D1-A161-01A-11D-A122-09 TCGA-D1-A161-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 16ee2634-8879-4eee-9e73-392a8ed0a803 bdb2d6fb-4d73-4129-8d87-daecdaf7d00d NM_020884.3 +1 reviewed p.R1507W 1.000 142 0% 82 39% 0 - benign(0.278) deleterious(0) deleterious(0.475) HMMPfam_Myosin_tail_1 FAM65C 140876 genome.wustl.edu 37 20 49209727 49209727 + Missense_Mutation SNP C C T novel TCGA-D1-A161-01A-11D-A122-09 TCGA-D1-A161-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 16ee2634-8879-4eee-9e73-392a8ed0a803 bdb2d6fb-4d73-4129-8d87-daecdaf7d00d NM_080829.2 -1 predicted p.R736H 0.121 29 0% 33 30.3% 0 - benign(0.009) tolerated(0.21) neutral(0.044) NULL ITGB2 3689 genome.wustl.edu 37 21 46323325 46323325 + Missense_Mutation SNP C C T novel TCGA-D1-A161-01A-11D-A122-09 TCGA-D1-A161-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 16ee2634-8879-4eee-9e73-392a8ed0a803 bdb2d6fb-4d73-4129-8d87-daecdaf7d00d NM_000211.3 -1 reviewed p.D152N 0.240 151 0% 97 45.4% 7 0% benign(0.07) tolerated(0.2) neutral(0.054) HMMSmart_VWA,HMMPfam_Integrin_beta,HMMSmart_INB,superfamily_SSF53300 MIR650 723778 genome.wustl.edu 37 22 23165295 23165295 + RNA SNP G G A novel TCGA-D1-A161-01A-11D-A122-09 TCGA-D1-A161-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 16ee2634-8879-4eee-9e73-392a8ed0a803 bdb2d6fb-4d73-4129-8d87-daecdaf7d00d ENST00000385101 +1 known NULL 0.014 62 0% 24 25% 3 0% - - - - ST13 6767 genome.wustl.edu 37 22 41231637 41231637 + Missense_Mutation SNP G G C novel TCGA-D1-A161-01A-11D-A122-09 TCGA-D1-A161-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 16ee2634-8879-4eee-9e73-392a8ed0a803 bdb2d6fb-4d73-4129-8d87-daecdaf7d00d NM_003932.3 -1 reviewed p.R169G 0.996 143 0% 110 37.3% 184 45.1% possibly_damaging(0.68) deleterious(0) deleterious(0.687) HMMPfam_TPR_1,HMMSmart_SM00028,superfamily_TPR-like SREBF2 6721 genome.wustl.edu 37 22 42300952 42300952 + Missense_Mutation SNP G G A novel TCGA-D1-A161-01A-11D-A122-09 TCGA-D1-A161-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 16ee2634-8879-4eee-9e73-392a8ed0a803 bdb2d6fb-4d73-4129-8d87-daecdaf7d00d NM_004599.2 +1 reviewed p.R1060Q 0.997 20 0% 17 29.4% 84 47.6% probably_damaging(0.982) deleterious(0.01) deleterious(0.832) NULL ZNF81 347344 genome.wustl.edu 37 X 47774615 47774615 + Missense_Mutation SNP T T G novel TCGA-D1-A161-01A-11D-A122-09 TCGA-D1-A161-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 16ee2634-8879-4eee-9e73-392a8ed0a803 bdb2d6fb-4d73-4129-8d87-daecdaf7d00d NM_007137.3 +1 reviewed p.H190Q 0.000 132 0% 109 33% 0 - benign(0.011) tolerated(0.13) neutral(0.253) NULL RGAG4 340526 genome.wustl.edu 37 X 71350838 71350838 + Missense_Mutation SNP C C T novel TCGA-D1-A161-01A-11D-A122-09 TCGA-D1-A161-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 16ee2634-8879-4eee-9e73-392a8ed0a803 bdb2d6fb-4d73-4129-8d87-daecdaf7d00d NM_001024455.3 -1 validated p.A185T 0.023 49 0% 29 27.6% 0 - probably_damaging(0.988) tolerated(0.1) deleterious(0.724) NULL ATRX 546 genome.wustl.edu 37 X 76907622 76907622 + Missense_Mutation SNP C C A novel TCGA-D1-A161-01A-11D-A122-09 TCGA-D1-A161-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 16ee2634-8879-4eee-9e73-392a8ed0a803 bdb2d6fb-4d73-4129-8d87-daecdaf7d00d NM_000489.3 -1 reviewed p.E1513D 1.000 735 0.1% 556 37.8% 5 0% probably_damaging(0.977) tolerated(0.41) neutral(0.434) superfamily_P-loop containing nucleoside triphosphate hydrolases HTR2C 3358 genome.wustl.edu 37 X 114141851 114141851 + Missense_Mutation SNP G G T novel TCGA-D1-A161-01A-11D-A122-09 TCGA-D1-A161-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 16ee2634-8879-4eee-9e73-392a8ed0a803 bdb2d6fb-4d73-4129-8d87-daecdaf7d00d NM_000868.2 +1 reviewed p.R417L 0.983 188 0% 139 39.6% 0 - probably_damaging(0.995) deleterious(0.01) deleterious(0.863) NULL SLITRK2 84631 genome.wustl.edu 37 X 144904565 144904565 + Missense_Mutation SNP A A T novel TCGA-D1-A161-01A-11D-A122-09 TCGA-D1-A161-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 16ee2634-8879-4eee-9e73-392a8ed0a803 bdb2d6fb-4d73-4129-8d87-daecdaf7d00d NM_001144003.2 +1 reviewed p.I208F 0.958 266 0% 206 33% 0 - possibly_damaging(0.949) deleterious(0.01) deleterious(0.798) superfamily_L domain-like