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 ACTRT2 140625 genome.wustl.edu 37 1 2939292 2939292 + Missense_Mutation SNP G G A novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_080431.4 +1 reviewed p.V348I 1.000 81 0% 93 14% 0 - unknown(0) - - HMMPfam_Actin,HMMSmart_SM00268,superfamily_Actin-like ATPase domain MEGF6 1953 genome.wustl.edu 37 1 3425250 3425250 + Missense_Mutation SNP C C T novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_001409.3 -1 validated p.C511Y 1.000 95 0% 57 28.1% 6 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) NULL PIK3CD 5293 genome.wustl.edu 37 1 9778814 9778814 + Silent SNP G G A novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_005026.3 +1 validated p.S361 0.817 120 0% 104 20.2% 23 0% - - - HMMPfam_PI3K_C2,HMMSmart_PI3K_C2,superfamily_C2_CaLB SPEN 23013 genome.wustl.edu 37 1 16264058 16264058 + Missense_Mutation SNP C C T novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_015001.2 +1 reviewed p.T3476I 0.003 251 0% 283 11.7% 49 32.6% unknown(0) tolerated(0.07) - NULL PADI3 51702 genome.wustl.edu 37 1 17593271 17593271 + Missense_Mutation SNP C C T novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_016233.2 +1 reviewed p.R156C 0.837 317 0% 319 19.1% 0 - benign(0.017) tolerated(0.07) neutral(0.320) HMMPfam_PAD_M,superfamily_PAD_central CDA 978 genome.wustl.edu 37 1 20931506 20931506 + Missense_Mutation SNP G G T novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_001785.2 +1 reviewed p.K80N 0.380 237 0.4% 204 20.1% 18 11.1% possibly_damaging(0.529) deleterious(0.04) deleterious(0.527) HMMPfam_dCMP_cyt_deam_1,PatternScan_CYT_DCMP_DEAMINASES,superfamily_Cytidine_deaminase-like COL16A1 1307 genome.wustl.edu 37 1 32150442 32150442 + Missense_Mutation SNP G G A novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_001856.3 -1 reviewed p.R678C 1.000 137 0% 128 18% 7 0% unknown(0) deleterious(0.01) - HMMPfam_Collagen RIMS3 9783 genome.wustl.edu 37 1 41107589 41107589 + Silent SNP G G A novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_014747.2 -1 validated p.N3 1.000 44 0% 39 20.5% 0 - - - - NULL JAK1 3716 genome.wustl.edu 37 1 65304196 65304196 + Silent SNP G G A rs34680086 byCluster;by1000genomes TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_002227.2 -1 reviewed p.N973 1.000 315 0% 240 10.8% 16 6.2% - - - HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like COL11A1 1301 genome.wustl.edu 37 1 103471421 103471421 + Silent SNP C C T novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_080629.2 -1 reviewed p.P618 0.427 71 0% 57 12.3% 0 - - - - HMMPfam_Collagen TARS2 80222 genome.wustl.edu 37 1 150471415 150471415 + Missense_Mutation SNP G G A novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_025150.3 +1 provisional p.V482I 1.000 255 0% 272 24.3% 64 60.9% benign(0.073) tolerated(0.14) neutral(0.255) HMMPfam_tRNA-synt_2b,superfamily_SSF55681 ADAMTSL4 54507 genome.wustl.edu 37 1 150528747 150528747 + Missense_Mutation SNP G G A novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_019032.4 +1 reviewed p.R494Q 0.219 124 0% 115 13% 1 0% possibly_damaging(0.682) tolerated(0.55) neutral(0.250) HMMPfam_ADAM_spacer1 KRTCAP2 200185 genome.wustl.edu 37 1 155145239 155145239 + Missense_Mutation SNP G G A novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_173852.3 -1 validated p.S71L 1.000 140 0% 171 17% 407 27.7% possibly_damaging(0.477) deleterious(0) deleterious(0.602) HMMPfam_Keratin_assoc FDPS 2224 genome.wustl.edu 37 1 155290213 155290215 + In_Frame_Del DEL AGA AGA - novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 AGA AGA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_001135821.1 +1 reviewed p.K359in_frame_del 1.000:1.000:1.000 - - - - - - - - - HMMPfam_polyprenyl_synt,superfamily_Terpenoid_synth NES 10763 genome.wustl.edu 37 1 156642346 156642346 + Missense_Mutation SNP G G A novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_006617.1 -1 reviewed p.T545I 0.001 113 0% 89 12.4% 0 - possibly_damaging(0.612) deleterious(0) deleterious(0.656) NULL FCRL3 115352 genome.wustl.edu 37 1 157665865 157665865 + Missense_Mutation SNP G G T novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_052939.3 -1 reviewed p.P366H 0.041 170 0% 173 13.3% 0 - possibly_damaging(0.904) deleterious(0.01) deleterious(0.764) HMMSmart_SM00409,superfamily_Immunoglobulin KCNJ10 3766 genome.wustl.edu 37 1 160012244 160012244 + Missense_Mutation SNP G G A novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_002241.3 -1 reviewed p.R27W 0.172 166 0% 146 12.3% 2 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_Voltage-gated potassium channels DUSP12 11266 genome.wustl.edu 37 1 161719795 161719795 + Silent SNP G G T novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_007240.1 +1 reviewed p.A68 0.000 48 0% 37 16.2% 38 18.4% - - - HMMPfam_DSPc,HMMSmart_DSPc,superfamily_SSF52799 POU2F1 5451 genome.wustl.edu 37 1 167370746 167370746 + Missense_Mutation SNP C C T novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_002697.2 +1 provisional p.P480L 1.000 224 0% 243 20.2% 34 17.6% probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL PRRX1 5396 genome.wustl.edu 37 1 170695497 170695497 + Missense_Mutation SNP C C T novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_022716.2 +1 reviewed p.P185L 1.000 100 0% 103 10.7% 96 11.4% probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL SWT1 54823 genome.wustl.edu 37 1 185143815 185143816 + Frame_Shift_Del DEL AG AG - novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 AG AG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_001105518.1 +1 validated p.K182fs 0.936:0.183 - - - - - - - - - NULL HMCN1 83872 genome.wustl.edu 37 1 185833699 185833699 + Missense_Mutation SNP G G A novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_031935.2 +1 reviewed p.R146Q 1.000 318 0.3% 323 16.1% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_vWA-like LEFTY1 10637 genome.wustl.edu 37 1 226074646 226074647 + Frame_Shift_Del DEL CA CA - novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 CA CA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_020997.2 -1 reviewed p.V294fs 1.000:1.000 - - - - - - - - - HMMPfam_TGF_beta,HMMSmart_TGFB,PatternScan_TGF_BETA_1,superfamily_SSF57501 NID1 4811 genome.wustl.edu 37 1 236175242 236175242 + Missense_Mutation SNP C C A novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_002508.2 -1 reviewed p.G836C 1.000 178 0% 189 18% 45 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Thyroglobulin type-1 domain,HMMSmart_SM00179,HMMSmart_SM00181,PatternScan_EGF_2,HMMPfam_EGF_CA OR1C1 26188 genome.wustl.edu 37 1 247921196 247921196 + Silent SNP G G A novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_012353.2 -1 validated p.S171 0.997 163 0% 225 15.6% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like POLR1A 25885 genome.wustl.edu 37 2 86308804 86308804 + Silent SNP C C T novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_015425.3 -1 validated p.S281 0.056 211 0.5% 157 17.2% 3 0% - - - superfamily_beta and beta-prime subunits of DNA dependent RNA-polymerase CHMP3 51652 genome.wustl.edu 37 2 86737576 86737576 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_016079.2 -1 reviewed p.Q105* 1.000 202 0% 185 20% 87 4.5% - - - HMMPfam_Snf7 INPP4A 3631 genome.wustl.edu 37 2 99182574 99182574 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_001134224.1 +1 reviewed p.R793* 1.000 47 0% 41 14.6% 10 20% - - - NULL SLC9A4 389015 genome.wustl.edu 37 2 103095611 103095611 + Silent SNP C C T novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_001011552.3 +1 validated p.D190 0.676 98 0% 73 37% 7 28.5% - - - HMMPfam_Na_H_Exchanger RGPD4 285190 genome.wustl.edu 37 2 108488590 108488590 + Missense_Mutation SNP G G T novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_182588.2 +1 validated p.R1377M 1.000 108 0% 66 16.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ran_BP1,HMMSmart_RanBD,superfamily_SSF50729 MIR663B 100313824 genome.wustl.edu 37 2 133014651 133014652 + RNA INS - - C rs111708138 TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 ENST00000408361 -1 known NULL 0.027:0.014 - - - - - - - - - - PSMD14 10213 genome.wustl.edu 37 2 162175372 162175372 + Silent SNP T T C novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_005805.4 +1 validated p.P12 1.000 212 0% 164 14% 25 48% - - - NULL LRP2 4036 genome.wustl.edu 37 2 170022538 170022538 + Missense_Mutation SNP G G A novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_004525.2 -1 reviewed p.R3888C 1.000 284 0.4% 213 18.8% 5 40% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ldl_recept_a,HMMSmart_LDLa,superfamily_LDL_rcpt_classA_cys-rich RBM45 129831 genome.wustl.edu 37 2 178980989 178980989 + Missense_Mutation SNP G G A novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_152945.2 +1 provisional p.V101I 1.000 207 0% 134 13.4% 11 36.3% probably_damaging(0.982) deleterious(0.02) deleterious(0.809) HMMSmart_SM00360,superfamily_RNA-binding domain RBD TTN 7273 genome.wustl.edu 37 2 179422832 179422832 + Silent SNP G G A novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_133378.4 -1 reviewed p.S26515F 0.000 82 1.2% 54 16.7% 0 - - - - NULL UBE2E3 10477 genome.wustl.edu 37 2 181846920 181846921 + Frame_Shift_Del DEL CT CT - novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 CT CT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_006357.2 +1 reviewed p.S52fs 1.000:1.000 - - - - - - - - - NULL COL4A3 1285 genome.wustl.edu 37 2 228167816 228167816 + Silent SNP A A G rs189574905 by1000genomes TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_000091.3 +1 reviewed p.P1315 0.823 338 0% 261 16.1% 0 - - - - HMMPfam_Collagen ANKMY1 51281 genome.wustl.edu 37 2 241494437 241494439 + In_Frame_Del DEL TCC TCC - novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 TCC TCC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_017844.2 -1 validated p.E61in_frame_del 0.503:0.537:0.527 - - - - - - - - - NULL C3orf20 84077 genome.wustl.edu 37 3 14731511 14731511 + Silent SNP C C T novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_032137.4 +1 validated p.L211 0.000 192 0% 150 16% 0 - - - - NULL TRIM71 131405 genome.wustl.edu 37 3 32933115 32933115 + Missense_Mutation SNP C C T novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_001039111.1 +1 provisional p.R807C 1.000 62 0% 72 18.1% 0 - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_NHL,superfamily_SSF101898 PLCD1 5333 genome.wustl.edu 37 3 38053062 38053062 + Silent SNP G G A novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_001130964.1 -1 validated p.D198 0.519 312 0% 306 15.4% 19 47.3% - - - superfamily_SSF47473 NBEAL2 23218 genome.wustl.edu 37 3 47038872 47038872 + Missense_Mutation SNP A A G novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_015175.1 +1 validated p.T925A 1.000 150 0% 142 19.7% 8 12.5% possibly_damaging(0.633) tolerated(0.62) neutral(0.225) NULL COL7A1 1294 genome.wustl.edu 37 3 48624082 48624082 + Missense_Mutation SNP A A C novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_000094.3 -1 reviewed p.F1106C 1.000 74 0% 59 13.6% 16 0% unknown(0) deleterious(0) - HMMPfam_VWA,superfamily_vWA-like USP19 10869 genome.wustl.edu 37 3 49152250 49152250 + Silent SNP C C A novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_006677.1 -1 provisional p.V643 0.990 157 0% 150 18.7% 80 47.5% - - - HMMPfam_UCH,superfamily_Cysteine proteinases LOC646498 646498 genome.wustl.edu 37 3 49215179 49215179 + Missense_Mutation SNP C C T novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_001080528.2 -1 validated p.V169I 0.003 139 0% 102 16.7% 0 - - - - NULL NPRL2 10641 genome.wustl.edu 37 3 50385588 50385588 + Missense_Mutation SNP C C T novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_006545.4 -1 validated p.R300H 1.000 187 0% 187 20.3% 41 36.5% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_NPR2 FOXP1 27086 genome.wustl.edu 37 3 71096093 71096093 + Missense_Mutation SNP C C A novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_032682.4 -1 reviewed p.G222C 1.000 119 0% 106 14.2% 21 0% benign(0.006) deleterious(0) neutral(0.445) NULL KLF15 28999 genome.wustl.edu 37 3 126070900 126070900 + Missense_Mutation SNP T T A novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_014079.3 -1 validated p.K289M 1.000 116 0% 101 26.7% 5 20% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL PLXNA1 5361 genome.wustl.edu 37 3 126733132 126733132 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_032242.3 +1 validated p.R817* 1.000 16 0% 12 33.3% 47 4.2% - - - HMMPfam_PSI,HMMSmart_SM00423 COL6A6 131873 genome.wustl.edu 37 3 130367970 130367970 + Missense_Mutation SNP G G A novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_001102608.1 +1 provisional p.R1766Q 0.157 137 0% 93 25.8% 0 - probably_damaging(0.971) - - HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like PEX5L 51555 genome.wustl.edu 37 3 179533661 179533661 + Silent SNP A A G novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_016559.1 -1 provisional p.P357 0.966 221 0% 201 12.4% 0 - - - - superfamily_TPR-like TTC14 151613 genome.wustl.edu 37 3 180322094 180322094 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_133462.3 +1 validated p.R190* 1.000 111 0% 84 22.6% 4 0% - - - superfamily_Nucleic acid-binding proteins MFI2 4241 genome.wustl.edu 37 3 196733536 196733536 + Frame_Shift_Del DEL G G - novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_005929.4 -1 reviewed p.R608fs 0.955 - - - - - - - - - HMMPfam_Transferrin,HMMSmart_SM00094,PatternScan_TRANSFERRIN_3,superfamily_Periplasmic binding protein-like II MIR922 100126321 genome.wustl.edu 37 3 197401443 197401443 + RNA SNP G G A novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 ENST00000401223 -1 known NULL 0.000 172 0% 167 13.2% 7 57.1% - - - - GSX2 170825 genome.wustl.edu 37 4 54966538 54966538 + Silent SNP G G A novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_133267.2 +1 validated p.S9 0.999 68 0% 41 19.5% 0 - - - - NULL GSX2 170825 genome.wustl.edu 37 4 54968027 54968027 + Missense_Mutation SNP G G A novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_133267.2 +1 validated p.E285K 0.998 99 0% 94 25.5% 0 - probably_damaging(0.985) tolerated(0.06) deleterious(0.754) NULL CABS1 85438 genome.wustl.edu 37 4 71201006 71201006 + Missense_Mutation SNP G G A novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_033122.3 +1 validated p.D84N 0.000 70 0% 41 17.1% 0 - benign(0.224) tolerated(0.84) neutral(0.022) NULL GK2 2712 genome.wustl.edu 37 4 80329033 80329033 + Missense_Mutation SNP G G T novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_033214.2 -1 validated p.L108I 0.998 209 0% 209 15.8% 0 - possibly_damaging(0.805) tolerated(0.1) deleterious(0.589) HMMPfam_FGGY_N,superfamily_SSF53067 MRPS18C 51023 genome.wustl.edu 37 4 84382343 84382343 + Missense_Mutation SNP G G A novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_016067.2 +1 reviewed p.R141Q 0.013 146 0% 116 13.8% 11 27.2% benign(0.003) tolerated(0.12) neutral(0.261) NULL H2AFZ 3015 genome.wustl.edu 37 4 100869968 100869968 + Missense_Mutation SNP C C A novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_002106.3 -1 reviewed p.G109C 1.000 157 0% 116 14.7% 278 29.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00414 BANK1 55024 genome.wustl.edu 37 4 102946405 102946405 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_017935.4 +1 reviewed p.Q445* 0.000 343 0% 284 16.2% 6 0% - - - superfamily_Ankyrin repeat CENPE 1062 genome.wustl.edu 37 4 104079590 104079590 + Missense_Mutation SNP C C T novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_001813.2 -1 validated p.R967Q 1.000 82 0% 42 28.6% 0 - possibly_damaging(0.838) tolerated(0.52) neutral(0.329) NULL KLKB1 3818 genome.wustl.edu 37 4 187130329 187130329 + Silent SNP C C T novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 ENST00000511608 +1 known p.P35L 0.686 143 0% 114 23.7% 13 30.7% - - - HMMPfam_p450,superfamily_Cytochrome P450 SLC6A3 6531 genome.wustl.edu 37 5 1406362 1406362 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_001044.4 -1 reviewed p.Q514* 0.683 38 0% 33 30.3% 0 - - - - HMMPfam_SNF ADAMTS16 170690 genome.wustl.edu 37 5 5303495 5303495 + Missense_Mutation SNP C C A novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_139056.2 +1 reviewed p.S968R 0.971 25 0% 25 20% 0 - possibly_damaging(0.864) deleterious(0.01) deleterious(0.740) HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat MTRR 4552 genome.wustl.edu 37 5 7897318 7897318 + Missense_Mutation SNP C C T novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_024010.2 +1 reviewed p.A664V 0.585 145 0% 105 14.3% 17 35.2% benign(0.001) tolerated(0.36) neutral(0.020) HMMPfam_NAD_binding_1,superfamily_Ferredoxin reductase-like C-terminal NADP-linked domain DNAH5 1767 genome.wustl.edu 37 5 13829759 13829759 + Missense_Mutation SNP G G A novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_001369.2 -1 reviewed p.R2102C 1.000 174 0% 145 17.9% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_AAA,superfamily_SSF52540 CDH12 1010 genome.wustl.edu 37 5 21802371 21802371 + Silent SNP C C T novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_004061.3 -1 reviewed p.P387 0.000 145 0.7% 128 21.9% 0 - - - - superfamily_Cadherin HTR1A 3350 genome.wustl.edu 37 5 63256356 63256356 + Silent SNP G G A novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_000524.2 -1 validated p.P397 0.028 119 0% 80 21.2% 0 - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like PIK3R1 5295 genome.wustl.edu 37 5 67591135 67591136 + Frame_Shift_Del DEL GA GA - novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 GA GA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_181523.1 +1 reviewed p.D578fs 0.016:0.975 - - - - - - - - - NULL ARSK 153642 genome.wustl.edu 37 5 94927197 94927197 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_198150.2 +1 validated p.R322* 0.998 185 0% 135 15.6% 2 0% - - - HMMPfam_Sulfatase,superfamily_Alkaline_phosphatase_core PCDHA3 56145 genome.wustl.edu 37 5 140182188 140182188 + Missense_Mutation SNP C C T novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_018906.2 +1 reviewed p.P469L 0.311 114 0% 98 23.5% 0 - probably_damaging(0.991) tolerated(0.09) deleterious(0.740) HMMPfam_Cadherin,superfamily_Cadherin-like PCDHA5 56143 genome.wustl.edu 37 5 140202609 140202609 + Missense_Mutation SNP G G A novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_018908.2 +1 reviewed p.V417M 0.000 82 0% 64 15.6% 0 - benign(0.019) tolerated(0.08) neutral(0.301) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHA6 56142 genome.wustl.edu 37 5 140209604 140209604 + Missense_Mutation SNP C C T novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_018909.2 +1 reviewed p.P643L 0.000 60 0% 34 17.6% 5 80% benign(0.002) tolerated(0.09) neutral(0.296) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHB10 56126 genome.wustl.edu 37 5 140573648 140573648 + Missense_Mutation SNP C C T novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_018930.3 +1 reviewed p.A508V 0.987 180 0% 135 11.1% 34 0% benign(0.002) deleterious(0.02) neutral(0.383) HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin PCDHGC5 56097 genome.wustl.edu 37 5 140869472 140869472 + Missense_Mutation SNP G G A novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_018929.2 +1 reviewed p.R222H 0.037 86 0% 71 23.9% 0 - probably_damaging(0.992) deleterious(0.02) deleterious(0.831) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like LARS 51520 genome.wustl.edu 37 5 145508248 145508248 + Missense_Mutation SNP C C T novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_020117.9 -1 reviewed p.R956H 0.950 448 0% 383 16.2% 54 37% possibly_damaging(0.719) deleterious(0.01) deleterious(0.666) superfamily_Anticodon-binding domain of a subclass of class I aminoacyl-tRNA synthetases HMGXB3 22993 genome.wustl.edu 37 5 149431382 149431382 + Missense_Mutation SNP C C T novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_014983.2 +1 validated p.T1169M 0.013 159 0% 128 24.2% 132 40.1% benign(0.129) deleterious(0.01) neutral(0.417) NULL GABRB2 2561 genome.wustl.edu 37 5 160721219 160721219 + Missense_Mutation SNP G G A novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_021911.2 -1 reviewed p.R470C 1.000 230 0% 198 17.2% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Neur_chan_memb,superfamily_Neu_channel_TM PXDC1 221749 genome.wustl.edu 37 6 3738312 3738312 + Silent SNP C C T novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 ENST00000380277 -1 known p.R57Q 0.076 405 0% 316 18.7% 15 13.3% - - - superfamily_PX domain TRIM10 10107 genome.wustl.edu 37 6 30128423 30128423 + Silent SNP G G T novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_006778.3 -1 validated p.P71 0.989 211 0% 203 21.7% 0 - - - - superfamily_RING/U-box HSPA1L 3305 genome.wustl.edu 37 6 31778313 31778313 + Silent SNP C C T novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_005527.3 -1 reviewed p.T479 0.999 152 0.7% 142 16.9% 4 0% - - - HMMPfam_HSP70,superfamily_SSF100920 RGL2 5863 genome.wustl.edu 37 6 33263987 33263987 + Missense_Mutation SNP C C T novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_004761.3 -1 validated p.A196T 1.000 113 0% 69 15.9% 31 38.7% benign(0.29) tolerated(0.24) neutral(0.127) HMMSmart_SM00229,superfamily_Ras GEF RSPH9 221421 genome.wustl.edu 37 6 43638632 43638634 + In_Frame_Del DEL CTA CTA - novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 CTA CTA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_152732.3 +1 provisional p.Y260in_frame_del 1.000:1.000:1.000 - - - - - - - - - NULL PTCHD4 442213 genome.wustl.edu 37 6 47847631 47847631 + Missense_Mutation SNP G G A novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_001013732.3 -1 validated p.R300W 1.000 39 0% 44 29.5% 0 - probably_damaging(0.993) deleterious(0) deleterious(0.895) HMMPfam_Patched,superfamily_SSF82866 LRRC1 55227 genome.wustl.edu 37 6 53761633 53761633 + Silent SNP T T A novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_018214.4 +1 validated p.L170 0.995 63 0% 44 27.3% 7 42.8% - - - HMMPfam_LRR_1,HMMSmart_SM00369,superfamily_L domain-like HTR1B 3351 genome.wustl.edu 37 6 78173085 78173085 + Silent SNP C C T novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_000863.1 -1 provisional p.P12 0.004 139 0% 124 15.3% 0 - - - - superfamily_Family A G protein-coupled receptor-like ZNF292 23036 genome.wustl.edu 37 6 87965625 87965625 + Missense_Mutation SNP G G T novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_015021.1 +1 validated p.G760C 0.952 97 0% 76 25% 2 0% probably_damaging(0.995) deleterious(0.02) deleterious(0.841) PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers GJA10 84694 genome.wustl.edu 37 6 90604916 90604916 + Silent SNP T T C novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_032602.1 +1 validated p.Y243 0.925 143 0% 99 13.1% 0 - - - - NULL PRDM1 639 genome.wustl.edu 37 6 106553306 106553306 + Missense_Mutation SNP G G T novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_001198.3 +1 reviewed p.G424V 0.988 53 0% 54 18.5% 24 16.6% possibly_damaging(0.728) deleterious(0.01) deleterious(0.671) NULL TULP4 56995 genome.wustl.edu 37 6 158735185 158735185 + Missense_Mutation SNP T T C novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_020245.3 +1 validated p.L46P 1.000 176 0% 142 18.3% 14 35.7% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL MAS1 4142 genome.wustl.edu 37 6 160328568 160328568 + Missense_Mutation SNP T T C novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_002377.2 +1 reviewed p.L194P 0.991 178 0% 182 15.4% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_7tm_1,superfamily_SSF81321 JAZF1 221895 genome.wustl.edu 37 7 27934920 27934920 + Missense_Mutation SNP G G A novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_175061.3 -1 reviewed p.R102C 1.000 70 0% 48 25% 46 43.4% probably_damaging(1) deleterious(0) deleterious(0.945) NULL DTX2 113878 genome.wustl.edu 37 7 76111931 76111931 + Silent SNP A A G novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_001102594.1 +1 validated p.E125 0.993 83 0% 67 22.4% 79 43% - - - HMMPfam_WWE,HMMSmart_SM00678 SEMA3E 9723 genome.wustl.edu 37 7 82997202 82997204 + In_Frame_Del DEL CTC CTC - novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 CTC CTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_012431.2 -1 reviewed p.E676in_frame_del 0.111:0.544:0.574 - - - - - - - - - NULL SEMA3D 223117 genome.wustl.edu 37 7 84710841 84710841 + Missense_Mutation SNP C C G novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_152754.2 -1 validated p.D123H 1.000 293 0% 209 12.9% 7 28.5% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Sema,HMMSmart_Sema,superfamily_Sema GRM3 2913 genome.wustl.edu 37 7 86416314 86416314 + Silent SNP C C T novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_000840.2 +1 reviewed p.H402 0.976 175 0% 152 21.1% 0 - - - - HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like I BET1 10282 genome.wustl.edu 37 7 93625532 93625532 + Silent SNP G G A novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 ENST00000425626 -1 known p.F82 0.001 92 0% 56 17.9% 0 - - - - NULL CYP3A7 1551 genome.wustl.edu 37 7 99328764 99328764 + Missense_Mutation SNP C C T novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_000765.3 -1 reviewed p.R28H 0.000 257 0% 186 17.7% 0 - benign(0.002) tolerated(0.56) neutral(0.006) NULL FOXP2 93986 genome.wustl.edu 37 7 114271581 114271583 + Splice_Site DEL CAG CAG - novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 CAG CAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_148898.2 +1 reviewed e6-1 0.101:0.135 - - - - - - - - - - CFTR 1080 genome.wustl.edu 37 7 117199683 117199683 + Missense_Mutation SNP G G A rs77646904 byCluster;byFrequency;by1000genomes TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_000492.3 +1 reviewed p.V520I 1.000 102 0% 68 13.2% 0 - benign(0.305) deleterious(0.02) deleterious(0.478) HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain,superfamily_P-loop containing nucleoside triphosphate hydrolases ZYX 7791 genome.wustl.edu 37 7 143080164 143080164 + Missense_Mutation SNP T T G novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_001010972.1 +1 reviewed p.S258A 0.304 146 0% 111 16.2% 35 11.4% benign(0.016) tolerated(0.98) neutral(0.001) NULL AGAP3 116988 genome.wustl.edu 37 7 150815321 150815321 + Missense_Mutation SNP G G A novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_031946.4 +1 validated p.R244Q 0.999 91 0% 80 17.5% 112 37.5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00173,HMMSmart_SM00175,superfamily_P-loop containing nucleoside triphosphate hydrolases LMBR1 64327 genome.wustl.edu 37 7 156619408 156619408 + Missense_Mutation SNP C C T novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 ENST00000434278 -1 known p.V33I 0.994 147 0% 107 15.9% 35 40% benign(0.382) - - NULL TTI2 80185 genome.wustl.edu 37 8 33367287 33367287 + Missense_Mutation SNP G G A novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_001102401.1 -1 validated p.L271F 1.000 216 0% 201 19.4% 29 31% probably_damaging(0.976) deleterious(0.01) deleterious(0.824) HMMPfam_DUF2454 ADRB3 155 genome.wustl.edu 37 8 37823533 37823533 + Missense_Mutation SNP C C T novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_000025.2 -1 reviewed p.R152H 0.998 46 0% 40 15% 0 - probably_damaging(0.996) tolerated(0.16) deleterious(0.521) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like TOX 9760 genome.wustl.edu 37 8 59720752 59720752 + Missense_Mutation SNP A A G novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_014729.2 -1 reviewed p.M490T 1.000 225 0% 173 19.1% 41 56% possibly_damaging(0.484) tolerated(0.35) neutral(0.181) NULL DCAF4L2 138009 genome.wustl.edu 37 8 88885088 88885088 + Missense_Mutation SNP C C T novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_152418.3 -1 validated p.R371H 0.876 193 0.5% 155 13.5% 0 - benign(0.065) tolerated(0.1) neutral(0.291) NULL TMEM74 157753 genome.wustl.edu 37 8 109796598 109796598 + Missense_Mutation SNP C C T novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_153015.1 -1 provisional p.V244I 0.998 169 0.6% 159 15.7% 0 - possibly_damaging(0.653) tolerated(0.16) neutral(0.289) NULL KIAA2026 158358 genome.wustl.edu 37 9 5923227 5923227 + Silent SNP C C T novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_001017969.2 -1 validated p.P923 0.310 142 0% 116 23.3% 4 0% - - - NULL TLN1 7094 genome.wustl.edu 37 9 35706498 35706498 + Silent SNP A A G novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_006289.3 -1 reviewed p.I1713 0.976 131 0% 123 18.7% 73 34.2% - - - NULL PRUNE2 158471 genome.wustl.edu 37 9 79325686 79325686 + Missense_Mutation SNP C C G novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_015225.2 -1 validated p.A502P 0.999 68 0% 57 10.5% 1 0% possibly_damaging(0.597) deleterious(0.01) deleterious(0.612) NULL PTCH1 5727 genome.wustl.edu 37 9 98221975 98221975 + Missense_Mutation SNP C C T novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_000264.3 -1 reviewed p.V932I 0.971 251 0% 296 21.3% 51 9.8% benign(0.081) tolerated(0.24) neutral(0.043) HMMPfam_Patched STRBP 55342 genome.wustl.edu 37 9 125895153 125895153 + Missense_Mutation SNP G G A novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_018387.4 -1 validated p.A623V 1.000 172 0% 147 21.1% 44 47.7% benign(0.355) deleterious(0.02) deleterious(0.495) NULL CIZ1 25792 genome.wustl.edu 37 9 130947845 130947847 + In_Frame_Del DEL GAG GAG - novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 GAG GAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_001131016.1 -1 validated p.S190in_frame_del 0.000:0.002:0.001 - - - - - - - - - NULL DDX31 64794 genome.wustl.edu 37 9 135522427 135522427 + Missense_Mutation SNP T T A novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_022779.7 -1 reviewed p.D434V 0.756 113 0% 95 26.3% 11 45.4% possibly_damaging(0.574) deleterious(0.04) deleterious(0.546) HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases GPSM1 26086 genome.wustl.edu 37 9 139250948 139250948 + Silent SNP C C T novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_001145638.1 +1 validated p.H589 0.515 36 0% 32 28.1% 7 14.2% - - - NULL SNAPC4 6621 genome.wustl.edu 37 9 139277995 139277997 + In_Frame_Del DEL GCT GCT - rs147271628 byCluster;by1000genomes TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 GCT GCT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_003086.2 -1 validated p.S542in_frame_del 0.000:0.005:0.005 - - - - - - - - - NULL AGPAT2 10555 genome.wustl.edu 37 9 139571064 139571064 + Silent SNP G G A novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_006412.3 -1 reviewed p.G187 0.042 93 0% 77 10.4% 304 44.4% - - - HMMPfam_Acyltransferase,HMMSmart_SM00563,superfamily_Glycerol-3-phosphate (1)-acyltransferase ABCA2 20 genome.wustl.edu 37 9 139902941 139902941 + Missense_Mutation SNP C C T novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_212533.2 -1 reviewed p.R2431Q 1.000 66 0% 52 26.9% 52 28.8% benign(0.066) tolerated(0.12) neutral(0.265) NULL DIP2C 22982 genome.wustl.edu 37 10 410387 410387 + Missense_Mutation SNP G G A novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_014974.2 -1 reviewed p.R802C 1.000 77 0% 77 13% 12 41.6% probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_SSF56801 ASB13 79754 genome.wustl.edu 37 10 5682558 5682558 + RNA SNP G G A novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NR_024581.1 -1 reviewed NULL 0.000 62 1.6% 63 19% 19 42.1% - - - - STAM 8027 genome.wustl.edu 37 10 17737179 17737179 + Missense_Mutation SNP G G A novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_003473.2 +1 reviewed p.A223T 1.000 192 0% 133 13.5% 1 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain GPR158 57512 genome.wustl.edu 37 10 25887748 25887748 + Missense_Mutation SNP C C T novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_020752.2 +1 validated p.R1065C 0.014 115 0% 82 18.3% 0 - benign(0.034) tolerated(0.12) neutral(0.263) NULL CUL2 8453 genome.wustl.edu 37 10 35305249 35305251 + In_Frame_Del DEL AAG AAG - novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 AAG AAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_003591.2 -1 provisional p.L586in_frame_del 0.998:1.000:1.000 - - - - - - - - - HMMPfam_Cullin,superfamily_Cullin homology domain RET 5979 genome.wustl.edu 37 10 43610062 43610062 + Missense_Mutation SNP G G T novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_020975.4 +1 reviewed p.A672S 0.999 140 0% 142 14.8% 1 0% probably_damaging(0.999) tolerated(0.08) deleterious(0.790) NULL ZNF488 118738 genome.wustl.edu 37 10 48371149 48371149 + Missense_Mutation SNP G G A novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_153034.2 +1 provisional p.R206Q 0.000 182 0% 119 13.4% 0 - benign(0.126) tolerated(0.6) neutral(0.015) NULL CCDC6 8030 genome.wustl.edu 37 10 61566823 61566823 + Missense_Mutation SNP C C T novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_005436.3 -1 validated p.M287I 1.000 254 0% 210 23.3% 19 52.6% benign(0.011) tolerated(0.28) neutral(0.032) HMMPfam_DUF2046 DDX21 9188 genome.wustl.edu 37 10 70716048 70716048 + Missense_Mutation SNP C C G novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_004728.2 +1 reviewed p.L23V 0.000 152 0% 113 14.2% 2 50% benign(0) tolerated(0.6) neutral(0.004) NULL UNC5B 219699 genome.wustl.edu 37 10 73053616 73053616 + Missense_Mutation SNP G G A novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_170744.3 +1 validated p.A701T 1.000 45 0% 35 20% 20 15% benign(0.001) deleterious(0.03) neutral(0.364) NULL MMRN2 79812 genome.wustl.edu 37 10 88703164 88703166 + In_Frame_Del DEL CTC CTC - novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 CTC CTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_024756.2 -1 validated p.E459in_frame_del 1.000:1.000:1.000 - - - - - - - - - NULL PTEN 5728 genome.wustl.edu 37 10 89624274 89624274 + Nonsense_Mutation SNP T T G novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 ENST00000371953 +1 known p.Y16* 1.000 355 0% 277 31% 24 66.6% - - - superfamily_(Phosphotyrosine protein) phosphatases II C10orf76 79591 genome.wustl.edu 37 10 103735012 103735014 + In_Frame_Del DEL CTT CTT - novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 CTT CTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_024541.2 -1 validated p.K484in_frame_del 1.000:1.000:1.000 - - - - - - - - - HMMPfam_DUF1741 PSD 5662 genome.wustl.edu 37 10 104176356 104176356 + Missense_Mutation SNP C C T novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_002779.3 -1 provisional p.R147Q 0.532 37 0% 33 24.2% 0 - benign(0) tolerated(0.22) neutral(0.042) NULL TACC2 10579 genome.wustl.edu 37 10 123809994 123809994 + Silent SNP C C T novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 ENST00000491540 +1 known p.R42W 0.001 120 0% 97 14.4% 2 50% - - - NULL DHX32 55760 genome.wustl.edu 37 10 127529525 127529525 + Missense_Mutation SNP C C A novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_018180.2 -1 reviewed p.E528D 1.000 179 0% 160 17.5% 29 41.3% benign(0.151) tolerated(0.44) neutral(0.026) HMMPfam_HA2 TTC40 54777 genome.wustl.edu 37 10 134664771 134664771 + Silent SNP C C T novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 ENST00000368586 -1 known p.A1871 0.014 109 0% 74 23% 5 40% - - - NULL RNH1 6050 genome.wustl.edu 37 11 498925 498925 + Missense_Mutation SNP C C A novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_002939.3 -1 validated p.S208I 0.000 41 0% 31 19.4% 194 34% probably_damaging(0.978) tolerated(0.14) deleterious(0.670) superfamily_SSF52047 DEAF1 10522 genome.wustl.edu 37 11 681021 681021 + Silent SNP G G T novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_021008.2 -1 validated p.P313 0.000 449 0.4% 405 17.3% 80 41.2% - - - NULL OR51S1 119692 genome.wustl.edu 37 11 4870114 4870114 + Missense_Mutation SNP T T C novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_001004758.1 -1 provisional p.M109V 1.000 119 0% 95 20% 0 - possibly_damaging(0.808) deleterious(0.04) deleterious(0.653) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like COPB1 1315 genome.wustl.edu 37 11 14515258 14515258 + Missense_Mutation SNP G G A novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_001144061.1 -1 reviewed p.R141C 1.000 202 0.5% 170 19.4% 34 47% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Adaptin_N,superfamily_ARM-type_fold NAV2 89797 genome.wustl.edu 37 11 20122677 20122677 + Missense_Mutation SNP G G A novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_182964.5 +1 validated p.G2129R 0.962 116 0% 72 15.3% 95 61% probably_damaging(1) tolerated(0.18) deleterious(0.556) HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases SLC6A5 9152 genome.wustl.edu 37 11 20622931 20622931 + Missense_Mutation SNP C C T novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_004211.3 +1 reviewed p.A87V 0.004 26 0% 15 33.3% 0 - benign(0.003) deleterious(0.03) neutral(0.364) NULL CKAP5 9793 genome.wustl.edu 37 11 46797908 46797908 + Missense_Mutation SNP G G A novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_001008938.1 -1 validated p.A963V 1.000 220 0% 158 16.5% 9 44.4% benign(0.007) tolerated(0.17) neutral(0.059) superfamily_ARM repeat MYBPC3 4607 genome.wustl.edu 37 11 47362771 47362771 + Silent SNP G G A novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_000256.3 -1 reviewed p.D605 1.000 108 0% 74 18.9% 1 0% - - - HMMSmart_IG,HMMPfam_ig,superfamily_SSF48726 LOC646754 646754 genome.wustl.edu 37 11 49080445 49080445 + Missense_Mutation SNP C C T novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 XM_929704.3 -1 model p.A74T 0.026 139 0.7% 113 23.9% 0 - benign(0.327) tolerated(0.19) neutral(0.152) superfamily_RING/U-box MPEG1 219972 genome.wustl.edu 37 11 58978599 58978599 + Silent SNP G G A rs186140164 by1000genomes TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_001039396.1 -1 validated p.S580 0.004 73 0% 72 13.9% 24 0% - - - NULL CD6 923 genome.wustl.edu 37 11 60786735 60786735 + Missense_Mutation SNP G G A novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_006725.3 +1 validated p.S651N 0.000 70 0% 65 24.6% 8 0% unknown(0) deleterious(0.05) - NULL PLCB3 5331 genome.wustl.edu 37 11 64024175 64024175 + Silent SNP G G A novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_000932.2 +1 reviewed p.T317 0.260 226 0% 247 17.4% 62 19.3% - - - HMMSmart_SM00148,superfamily_EF-hand RPS6KB2 6199 genome.wustl.edu 37 11 67201718 67201718 + Missense_Mutation SNP G G A novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_003952.2 +1 reviewed p.R340H 0.003 148 0% 105 26.7% 91 43.9% possibly_damaging(0.783) deleterious(0) deleterious(0.738) HMMSmart_S_TK_X,superfamily_Kinase_like MRGPRF 116535 genome.wustl.edu 37 11 68773441 68773441 + Missense_Mutation SNP C C T novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_001098515.1 -1 validated p.D113N 0.869 48 0% 27 33.3% 15 0% possibly_damaging(0.826) tolerated(0.28) neutral(0.345) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like ANO1 55107 genome.wustl.edu 37 11 70034007 70034007 + Missense_Mutation SNP G G T novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_018043.5 +1 validated p.R953L 0.000 89 0% 97 22.7% 298 38.2% benign(0) deleterious(0.01) neutral(0.406) NULL C11orf30 56946 genome.wustl.edu 37 11 76237644 76237644 + Missense_Mutation SNP A A G novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_020193.3 +1 validated p.T654A 1.000 195 0% 158 16.5% 7 42.8% unknown(0) deleterious(0) - NULL ABCG4 64137 genome.wustl.edu 37 11 119025032 119025032 + Missense_Mutation SNP G G A novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_001142505.1 +1 reviewed p.R140H 1.000 145 0% 113 23% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases SIAE 54414 genome.wustl.edu 37 11 124508448 124508450 + In_Frame_Del DEL TTG TTG - novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 TTG TTG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_170601.3 -1 validated p.N436in_frame_del 0.142:0.101:0.063 - - - - - - - - - NULL KCNJ5 3762 genome.wustl.edu 37 11 128781783 128781783 + Silent SNP C C T novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_000890.3 +1 reviewed p.N205 0.948 264 0% 207 20.8% 0 - - - - HMMPfam_IRK,superfamily_Ig_E-set KDM5A 5927 genome.wustl.edu 37 12 432923 432925 + In_Frame_Del DEL CTT CTT - novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 CTT CTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_001042603.1 -1 reviewed p.E664in_frame_del 1.000:0.980:1.000 - - - - - - - - - NULL KCNA6 3742 genome.wustl.edu 37 12 4919805 4919805 + Missense_Mutation SNP C C T novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_002235.3 +1 reviewed p.R200C 1.000 105 0% 85 17.6% 0 - possibly_damaging(0.936) deleterious(0) deleterious(0.826) superfamily_SSF81324 KIAA1467 57613 genome.wustl.edu 37 12 13232887 13232887 + Missense_Mutation SNP C C T novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_020853.1 +1 validated p.R603C 1.000 139 0.7% 126 19% 4 75% probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL PLEKHA5 54477 genome.wustl.edu 37 12 19282695 19282695 + RNA SNP G G A novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NR_026568.1 +1 validated NULL 0.996 32 0% 18 27.8% 6 66.6% - - - - GPD1 2819 genome.wustl.edu 37 12 50501424 50501424 + Silent SNP G G A novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_005276.2 +1 provisional p.R229 0.895 196 0% 181 20.4% 1 0% - - - HMMPfam_NAD_Gly3P_dh_C,superfamily_6DGDH_C_like KRT81 3887 genome.wustl.edu 37 12 52680972 52680972 + Missense_Mutation SNP C C A novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_002281.3 -1 reviewed p.R387S 0.994 117 0% 102 16.7% 7 0% possibly_damaging(0.685) deleterious(0) deleterious(0.689) HMMPfam_Filament UTP20 27340 genome.wustl.edu 37 12 101702086 101702086 + Missense_Mutation SNP G G A novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_014503.2 +1 validated p.V707I 1.000 187 0% 125 13.6% 1 0% probably_damaging(0.982) tolerated(0.31) neutral(0.454) superfamily_ARM repeat C12orf34 84915 genome.wustl.edu 37 12 110205933 110205933 + Missense_Mutation SNP A A G novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_032829.2 +1 validated p.I67V 1.000 56 0% 68 25% 12 16.6% benign(0.001) tolerated(0.62) neutral(0.004) NULL HNF1A 6927 genome.wustl.edu 37 12 121426650 121426650 + Missense_Mutation SNP G G A novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_000545.5 +1 reviewed p.R114H 0.974 142 0% 122 17.2% 11 36.3% benign(0.124) tolerated(0.54) neutral(0.018) HMMPfam_HNF-1_N,superfamily_lambda repressor-like DNA-binding domains GTF2H3 2967 genome.wustl.edu 37 12 124132581 124132581 + Missense_Mutation SNP T T G novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_001516.3 +1 provisional p.F91C 0.915 107 0% 68 19.1% 2 50% benign(0.001) tolerated(0.21) neutral(0.044) HMMPfam_Tfb4 NCOR2 9612 genome.wustl.edu 37 12 124887093 124887093 + Silent SNP C C T novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_006312.3 -1 validated p.Q499 0.999 91 0% 80 18.8% 8 0% - - - NULL PUS1 80324 genome.wustl.edu 37 12 132425975 132425975 + Missense_Mutation SNP C C T novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_025215.5 +1 reviewed p.T228M 1.000 130 0% 138 23.2% 43 32.5% benign(0.359) tolerated(0.11) neutral(0.386) superfamily_Pseudouridine synthase EP400 57634 genome.wustl.edu 37 12 132530313 132530313 + Silent SNP C C T novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_015409.3 +1 validated p.I2355 0.021 258 0% 242 16.9% 41 41.4% - - - superfamily_Homeodomain_like FBRSL1 57666 genome.wustl.edu 37 12 133149188 133149188 + Nonsense_Mutation SNP C C T novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_001142641.1 +1 validated p.Q522* 1.000 140 0% 120 15% 8 37.5% - - - NULL DCLK1 9201 genome.wustl.edu 37 13 36700199 36700199 + Missense_Mutation SNP G G A novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_004734.3 -1 validated p.R26W 0.990 49 0% 55 20% 1 100% probably_damaging(1) deleterious(0.01) deleterious(0.905) NULL GAS6 2621 genome.wustl.edu 37 13 114523858 114523858 + Silent SNP G G A rs77167214 TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_000820.2 -1 reviewed p.P672 0.008 37 0% 31 22.6% 230 29.1% - - - superfamily_ConA_like_lec_gl AJUBA 84962 genome.wustl.edu 37 14 23442658 23442658 + Silent SNP A A G novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_032876.4 -1 validated p.Y537 0.895 230 0% 175 21.1% 34 44.1% - - - NULL HECTD1 25831 genome.wustl.edu 37 14 31647287 31647287 + Missense_Mutation SNP C C T novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_015382.2 -1 validated p.R105H 1.000 218 0% 143 18.9% 23 39.1% probably_damaging(0.982) tolerated(0.15) deleterious(0.667) superfamily_ARM repeat HEATR5A 25938 genome.wustl.edu 37 14 31806737 31806737 + Missense_Mutation SNP T T A novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_015473.2 -1 validated p.E811D 0.997 167 0% 166 18.7% 23 47.8% possibly_damaging(0.475) tolerated(0.07) deleterious(0.476) superfamily_ARM repeat SNX6 58533 genome.wustl.edu 37 14 35055467 35055467 + Missense_Mutation SNP A A C novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_152233.2 -1 reviewed p.L267V 1.000 150 0% 99 16.2% 7 14.2% possibly_damaging(0.647) tolerated(0.08) deleterious(0.527) HMMPfam_Vps5 FRMD6 122786 genome.wustl.edu 37 14 52171561 52171561 + Missense_Mutation SNP G G A novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_001042481.1 +1 validated p.A148T 1.000 104 0% 88 31.8% 4 0% benign(0.01) tolerated(0.05) neutral(0.346) HMMPfam_FERM_M,superfamily_FERM_3-hlx,HMMSmart_B41 SYNE2 23224 genome.wustl.edu 37 14 64610507 64610507 + Missense_Mutation SNP G G T novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_182914.2 +1 reviewed p.M5108I 1.000 272 0% 228 15.4% 13 61.5% possibly_damaging(0.737) tolerated(0.26) neutral(0.303) HMMPfam_Spectrin,HMMSmart_SPEC,superfamily_Spectrin TGFB3 7043 genome.wustl.edu 37 14 76446961 76446961 + Silent SNP G G T novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_003239.2 -1 reviewed p.T92 1.000 274 0.4% 230 16.1% 14 50% - - - HMMPfam_TGFb_propeptide TGFB3 7043 genome.wustl.edu 37 14 76447041 76447041 + Missense_Mutation SNP G G T novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_003239.2 -1 reviewed p.P66T 1.000 244 0% 227 17.2% 19 47.3% probably_damaging(0.993) deleterious(0.01) deleterious(0.856) HMMPfam_TGFb_propeptide C14orf118 55668 genome.wustl.edu 37 14 76644271 76644271 + Missense_Mutation SNP T T G novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_017972.2 +1 validated p.N363K 0.995 394 0% 318 19.2% 0 - benign(0) tolerated(0.13) neutral(0.253) NULL SNW1 22938 genome.wustl.edu 37 14 78205385 78205385 + Missense_Mutation SNP G G T novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_012245.2 -1 reviewed p.T117N 1.000 217 0% 185 18.9% 12 25% benign(0.016) tolerated(0.35) neutral(0.021) NULL EML5 161436 genome.wustl.edu 37 14 89083213 89083215 + In_Frame_Del DEL CTC CTC - novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 CTC CTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_183387.2 -1 validated p.G1884in_frame_del 1.000:0.963:1.000 - - - - - - - - - HMMSmart_SM00320,superfamily_WD40 repeat-like TC2N 123036 genome.wustl.edu 37 14 92258816 92258816 + Silent SNP C C T novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_001128595.1 -1 validated p.Q314 0.999 241 0% 172 14.5% 4 25% - - - HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) IGHA2 3494 genome.wustl.edu 37 14 106054005 106054005 + Missense_Mutation SNP C C T novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 ENST00000390539 -1 known p.V172M 0.982 136 0% 125 16% 6431 0% probably_damaging(0.997) deleterious(0.01) deleterious(0.872) HMMSmart_SM00407,HMMPfam_ig,superfamily_Immunoglobulin GOLGA6L1 283767 genome.wustl.edu 37 15 22742712 22742712 + Missense_Mutation SNP G G A novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_001001413.3 +1 provisional p.R366Q 0.020 55 0% 61 9.8% 0 - unknown(0) tolerated(0.72) - NULL ATP8B4 79895 genome.wustl.edu 37 15 50212484 50212484 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_024837.2 -1 validated p.R628* 0.042 269 0% 254 16.5% 2 0% - - - superfamily_SSF56784,superfamily_SSF81660,superfamily_SSF81665 NPTN 27020 genome.wustl.edu 37 15 73866015 73866015 + Silent SNP G G A novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_012428.3 -1 reviewed p.N276 0.998 200 0% 151 11.3% 244 38.1% - - - HMMSmart_IGc2,HMMPfam_I-set,superfamily_SSF48726 NEIL1 79661 genome.wustl.edu 37 15 75646108 75646110 + In_Frame_Del DEL GGA GGA - novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 GGA GGA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_024608.2 +1 validated p.E251in_frame_del 0.039:0.976:0.986 - - - - - - - - - superfamily_Glucocorticoid receptor-like (DNA-binding domain) TBL3 10607 genome.wustl.edu 37 16 2025588 2025588 + Silent SNP G G A novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_006453.2 +1 reviewed p.P288 0.000 45 0% 25 28% 59 47.4% - - - HMMSmart_WD40,superfamily_WD40_like PKD1 5310 genome.wustl.edu 37 16 2160558 2160558 + Missense_Mutation SNP T T C novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_001009944.2 -1 reviewed p.E1537G 0.981 49 0% 41 17.1% 11 18.1% possibly_damaging(0.948) tolerated(0.15) deleterious(0.632) HMMPfam_PKD,HMMSmart_SM00089,superfamily_PKD domain CLDN9 9080 genome.wustl.edu 37 16 3063869 3063869 + Missense_Mutation SNP C C T novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_020982.3 +1 reviewed p.A169V 0.993 16 0% 14 28.6% 7 42.8% benign(0.187) tolerated(0.08) neutral(0.318) HMMPfam_PMP22_Claudin MYH11 4629 genome.wustl.edu 37 16 15829237 15829237 + Silent SNP A A G novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_001040114.1 -1 reviewed p.T1171 0.960 279 0% 275 20.7% 14 7.1% - - - HMMPfam_Myosin_tail_1 ARHGAP17 55114 genome.wustl.edu 37 16 24942461 24942461 + Missense_Mutation SNP G G A novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_001006634.1 -1 validated p.T720M 0.715 396 0% 333 16.2% 36 47.2% probably_damaging(0.983) deleterious(0.01) deleterious(0.835) NULL FBXL19 54620 genome.wustl.edu 37 16 30953728 30953728 + Missense_Mutation SNP T T C novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_001099784.2 +1 provisional p.W520R 1.000 81 0% 62 17.7% 24 41.6% probably_damaging(0.999) deleterious(0.04) deleterious(0.839) superfamily_RNI-like HSD3B7 80270 genome.wustl.edu 37 16 30997993 30997993 + Missense_Mutation SNP G G A novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_025193.3 +1 reviewed p.E167K 0.999 110 0% 83 20.5% 48 16.6% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_3Beta_HSD,superfamily_NAD(P)-bd CES3 23491 genome.wustl.edu 37 16 67006830 67006830 + Missense_Mutation SNP G G T novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_024922.4 +1 validated p.V532L 0.000 131 0% 113 15.9% 26 53.8% benign(0.137) tolerated(0.07) neutral(0.331) HMMPfam_COesterase,superfamily_alpha/beta-Hydrolases TMEM170A 124491 genome.wustl.edu 37 16 75481497 75481497 + Missense_Mutation SNP C C T novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_145254.1 -1 provisional p.V132I 1.000 290 0.3% 238 18.5% 13 30.7% benign(0.185) tolerated(0.41) neutral(0.032) HMMPfam_Tmemb_170 ZC3H18 124245 genome.wustl.edu 37 16 88691154 88691154 + Splice_Site SNP G G A novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_144604.3 +1 validated e11+1 1.000 93 0% 94 20.2% 0 - - - - - MC1R 4157 genome.wustl.edu 37 16 89986165 89986165 + Missense_Mutation SNP G G A novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_002386.3 +1 reviewed p.A167T 0.051 52 0% 45 22.2% 25 28% possibly_damaging(0.938) deleterious(0.04) deleterious(0.732) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like SMTNL2 342527 genome.wustl.edu 37 17 4496467 4496467 + Splice_Site SNP G G T novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_001114974.1 +1 validated e3+1 0.999 42 0% 45 28.9% 0 - - - - - MINK1 50488 genome.wustl.edu 37 17 4787717 4787717 + Silent SNP C C A novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_153827.4 +1 reviewed p.G122 0.998 313 0% 285 18.6% 57 19.2% - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase MINK1 50488 genome.wustl.edu 37 17 4787721 4787721 + Missense_Mutation SNP G G A novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_153827.4 +1 reviewed p.A124T 1.000 299 0% 272 21.7% 56 33.9% benign(0.01) tolerated(0.65) neutral(0.004) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase CD68 968 genome.wustl.edu 37 17 7484803 7484803 + Missense_Mutation SNP C C T novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_001251.2 +1 reviewed p.R347C 1.000 194 0% 168 20.2% 238 5% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Lamp,PatternScan_LAMP_2 DNAH2 146754 genome.wustl.edu 37 17 7736495 7736495 + Missense_Mutation SNP C C T novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_020877.2 +1 validated p.T4362M 1.000 90 0% 66 21.2% 11 27.2% possibly_damaging(0.92) deleterious(0.02) deleterious(0.754) HMMPfam_Dynein_heavy PIK3R5 23533 genome.wustl.edu 37 17 8791757 8791757 + Silent SNP C C T novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_001142633.1 -1 validated p.T449 0.000 42 0% 42 23.8% 0 - - - - HMMPfam_PI3K_1B_p101 MAPK7 5598 genome.wustl.edu 37 17 19284628 19284628 + Missense_Mutation SNP G G A novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_002749.3 +1 reviewed p.R369H 0.992 59 1.7% 40 22.5% 19 52.6% unknown(0) deleterious(0.03) - superfamily_Protein kinase-like (PK-like) USP22 23326 genome.wustl.edu 37 17 20914467 20914467 + Missense_Mutation SNP C C G novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_015276.1 -1 validated p.R367P 1.000 53 0% 53 11.3% 102 36.2% possibly_damaging(0.905) deleterious(0.04) deleterious(0.708) HMMPfam_UCH,superfamily_Cysteine proteinases TNS4 84951 genome.wustl.edu 37 17 38652335 38652335 + Missense_Mutation SNP T T C novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_032865.5 -1 validated p.T115A 0.993 104 0% 70 27.1% 2 50% benign(0.026) deleterious(0.02) neutral(0.384) NULL TUBG1 7283 genome.wustl.edu 37 17 40761797 40761800 + Frame_Shift_Del DEL CAAT CAAT - novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 CAAT CAAT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_001070.4 +1 reviewed p.N15fs 1.000:1.000:1.000:1.000 - - - - - - - - - HMMPfam_Tubulin,superfamily_Tubulin nucleotide-binding domain-like EFTUD2 9343 genome.wustl.edu 37 17 42928705 42928705 + Missense_Mutation SNP G G T novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_004247.3 -1 validated p.F952L 1.000 206 0% 168 14.3% 128 34.3% probably_damaging(0.986) deleterious(0) deleterious(0.879) superfamily_EFG_III_V ENSG00000204323 0 genome.wustl.edu 37 17 73636987 73636987 + Missense_Mutation SNP G G A novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 ENST00000375215 +1 known p.R5Q 0.001 87 0% 77 14.3% 23 34.7% - - - NULL TNRC6C 57690 genome.wustl.edu 37 17 76063981 76063981 + Missense_Mutation SNP G G A novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_001142640.1 +1 validated p.A916T 0.942 172 0% 170 16.5% 2 0% benign(0) tolerated(0.44) neutral(0.013) NULL LGALS3BP 3959 genome.wustl.edu 37 17 76972132 76972132 + Missense_Mutation SNP C C A novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_005567.3 -1 reviewed p.W53C 1.000 36 0% 35 17.1% 1263 48.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_SRCR,PatternScan_SRCR_1,HMMSmart_SR,superfamily_Srcr_receptor MAPRE2 10982 genome.wustl.edu 37 18 32621535 32621535 + Missense_Mutation SNP A A T novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_014268.2 +1 reviewed p.N11I 1.000 133 0% 107 20.6% 17 0% unknown(0) - - NULL ZBTB7C 201501 genome.wustl.edu 37 18 45567238 45567238 + Nonsense_Mutation SNP G G A novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_001039360.1 -1 validated p.Q81* 1.000 208 0% 186 20.4% 36 63.8% - - - HMMSmart_SM00225,superfamily_POZ domain,HMMPfam_BTB MYO5B 4645 genome.wustl.edu 37 18 47390601 47390601 + Silent SNP G G A novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_001080467.2 -1 reviewed p.H1251 0.357 92 0% 65 15.4% 49 46.9% - - - NULL C19orf71 100128569 genome.wustl.edu 37 19 3543390 3543390 + Missense_Mutation SNP C C T novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_001135580.1 +1 validated p.R81W 0.000 25 0% 23 26.1% 8 0% probably_damaging(0.968) deleterious(0.01) deleterious(0.816) NULL PIP5K1C 23396 genome.wustl.edu 37 19 3656513 3656513 + Missense_Mutation SNP C C A novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_012398.1 -1 reviewed p.G171C 0.996 126 0.8% 104 18.3% 49 40.8% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PIP5K,HMMSmart_PIPKc,superfamily_SSF56104 STXBP2 6813 genome.wustl.edu 37 19 7711171 7711171 + Missense_Mutation SNP C C T novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_006949.2 +1 reviewed p.R465C 1.000 59 0% 53 20.8% 102 38.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Sec1,superfamily_Sec1/munc18-like (SM) proteins CD209 30835 genome.wustl.edu 37 19 7809955 7809955 + Missense_Mutation SNP A A G novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_021155.3 -1 reviewed p.W258R 0.121 192 0% 197 20.3% 1 0% benign(0) tolerated(0.52) neutral(0.009) HMMSmart_SM00034,superfamily_C-type lectin-like FBN3 84467 genome.wustl.edu 37 19 8201191 8201191 + Missense_Mutation SNP C C T novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_032447.3 -1 reviewed p.V450I 0.449 57 0% 36 16.7% 4 50% possibly_damaging(0.568) tolerated(0.5) neutral(0.205) HMMSmart_SM00179,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_EGF/Laminin DOCK6 57572 genome.wustl.edu 37 19 11313383 11313383 + Silent SNP G G A novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_020812.2 -1 validated p.R1746 0.254 94 0% 65 16.9% 17 17.6% - - - NULL MAN2B1 4125 genome.wustl.edu 37 19 12776187 12776187 + Missense_Mutation SNP C C T novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_000528.3 -1 reviewed p.V139M 0.997 194 0% 155 16.8% 157 22.9% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Glyco_hydro_38,superfamily_Glyco_hydro/deAcase_b/a-brl NOTCH3 4854 genome.wustl.edu 37 19 15300167 15300167 + Missense_Mutation SNP G G A novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_000435.2 -1 reviewed p.P370L 1.000 113 0.9% 96 11.5% 157 25.4% probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_EGF,HMMSmart_SM00181,superfamily_EGF/Laminin RASAL3 64926 genome.wustl.edu 37 19 15574876 15574876 + Silent SNP C C T novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_022904.1 -1 validated p.P98 0.466 32 0% 27 22.2% 0 - - - - NULL KIAA1683 80726 genome.wustl.edu 37 19 18378139 18378139 + Missense_Mutation SNP C C T novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_001145304.1 -1 validated p.E71K 0.000 157 0.6% 167 22.8% 0 - possibly_damaging(0.875) tolerated(0.27) neutral(0.374) NULL COMP 1311 genome.wustl.edu 37 19 18896858 18896858 + Missense_Mutation SNP T T C novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_000095.2 -1 reviewed p.D469G 1.000 52 0% 37 27% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_TSP_3,superfamily_SSF103647 UQCRFS1 7386 genome.wustl.edu 37 19 29698566 29698566 + Silent SNP G G A novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_006003.2 -1 validated p.C238 1.000 159 0% 133 21.1% 195 46.1% - - - HMMPfam_Rieske,superfamily_Rieske_dom MLL4 9757 genome.wustl.edu 37 19 36212024 36212025 + Frame_Shift_Ins INS - - CCCAGTT novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_014727.1 +1 reviewed p.P596fs 0.978:0.982 - - - - - - - - - NULL THAP8 199745 genome.wustl.edu 37 19 36526365 36526365 + Missense_Mutation SNP C C T novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_152658.2 -1 provisional p.D268N 0.918 178 0% 201 23.4% 9 44.4% benign(0.355) tolerated(0.32) neutral(0.137) NULL LGALS4 3960 genome.wustl.edu 37 19 39297124 39297124 + Missense_Mutation SNP C C T novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_006149.3 -1 reviewed p.G151R 0.993 70 0% 64 21.9% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_Concanavalin A-like lectins/glucanases MRPS12 6183 genome.wustl.edu 37 19 39423117 39423117 + Missense_Mutation SNP C C T novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_021107.1 +1 reviewed p.T65M 1.000 47 0% 48 10.4% 71 12.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ribosomal_S12,superfamily_Nucleic acid-binding proteins CIC 23152 genome.wustl.edu 37 19 42791372 42791373 + Frame_Shift_Del DEL AG AG - novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 AG AG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_015125.3 +1 validated p.S146fs 0.633:0.999 - - - - - - - - - NULL ZNF233 353355 genome.wustl.edu 37 19 44777697 44777697 + Missense_Mutation SNP T T C novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_181756.1 +1 provisional p.I295T 0.000 121 0% 75 22.7% 1 0% benign(0.001) tolerated(0.25) neutral(0.037) superfamily_C2H2 and C2HC zinc fingers ZNF285 26974 genome.wustl.edu 37 19 44892260 44892260 + Silent SNP G G A novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_152354.3 -1 validated p.D49 0.000 73 0% 50 14% 0 - - - - HMMSmart_SM00349 NAPA 8775 genome.wustl.edu 37 19 47995335 47995335 + Silent SNP G G A novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_003827.2 -1 reviewed p.S201 0.991 315 0% 296 16.2% 357 35.8% - - - superfamily_TPR-like KCNJ14 3770 genome.wustl.edu 37 19 48965234 48965234 + Missense_Mutation SNP C C T novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_013348.2 +1 reviewed p.R85C 1.000 27 0% 36 33.3% 10 10% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_IRK,superfamily_SSF81324 PPFIA3 8541 genome.wustl.edu 37 19 49637371 49637371 + Silent SNP C C T novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_003660.2 +1 reviewed p.N442 0.985 39 0% 16 31.2% 0 - - - - NULL HRC 3270 genome.wustl.edu 37 19 49657349 49657351 + In_Frame_Del DEL CTC CTC - novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 CTC CTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_002152.2 -1 reviewed p.E382in_frame_del 0.138:0.163:0.167 - - - - - - - - - NULL TRPM4 54795 genome.wustl.edu 37 19 49674986 49674986 + Missense_Mutation SNP G G A novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_017636.2 +1 provisional p.R337H 0.998 55 0% 37 13.5% 24 54.1% benign(0.136) tolerated(0.51) neutral(0.020) NULL TSKS 60385 genome.wustl.edu 37 19 50250005 50250005 + Silent SNP C C T novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_021733.1 -1 reviewed p.R238 0.997 62 0% 34 17.6% 0 - - - - NULL ATF5 22809 genome.wustl.edu 37 19 50436268 50436268 + Silent SNP C C T novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_012068.4 +1 validated p.S256 0.362 73 0% 60 15% 94 23.4% - - - HMMSmart_BRLZ,HMMPfam_bZIP_1 SHANK1 50944 genome.wustl.edu 37 19 51191209 51191209 + Missense_Mutation SNP G G A novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_016148.2 -1 validated p.P760L 1.000 156 0% 142 16.2% 3 0% probably_damaging(1) tolerated(1) deleterious(0.500) HMMSmart_SM00228 SIGLEC9 27180 genome.wustl.edu 37 19 51629341 51629341 + Missense_Mutation SNP C C T novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_014441.1 +1 provisional p.P235L 0.003 133 0% 112 15.2% 19 0% benign(0.382) tolerated(0.07) neutral(0.441) superfamily_SSF48726 ZNF665 79788 genome.wustl.edu 37 19 53668142 53668142 + Missense_Mutation SNP G G A novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_024733.3 -1 provisional p.T534I 0.074 222 0% 206 15.5% 1 0% benign(0) tolerated(0.13) neutral(0.253) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers HSPBP1 23640 genome.wustl.edu 37 19 55789013 55789013 + Missense_Mutation SNP C C T novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_001130106.1 -1 validated p.A138T 0.407 87 0% 52 15.4% 143 46.8% benign(0.014) tolerated(0.18) neutral(0.057) superfamily_ARM repeat EPN1 29924 genome.wustl.edu 37 19 56206692 56206692 + Silent SNP G G A novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_001130071.1 +1 validated p.P653 0.010 17 0% 11 36.4% 80 23.7% - - - NULL SLC52A3 113278 genome.wustl.edu 37 20 744281 744281 + Missense_Mutation SNP C C T novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_033409.3 -1 validated p.A312T 0.034 133 0% 106 17% 55 60% possibly_damaging(0.942) deleterious(0.01) deleterious(0.792) HMMPfam_DUF1011 PTPRA 5786 genome.wustl.edu 37 20 2969091 2969091 + Missense_Mutation SNP G G A novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_002836.3 +1 reviewed p.D237N 1.000 250 0% 253 15% 29 51.7% probably_damaging(0.998) tolerated(0.11) deleterious(0.746) superfamily_SSF52799 ATRN 8455 genome.wustl.edu 37 20 3543020 3543020 + Silent SNP C C T novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_139321.2 +1 reviewed p.Y515 0.973 383 0% 353 15.3% 67 32.8% - - - superfamily_Galactose oxidase central domain RALGAPB 57148 genome.wustl.edu 37 20 37121654 37121654 + Missense_Mutation SNP T T G novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_020336.2 +1 validated p.Y90D 1.000 237 0% 131 17.6% 8 25% probably_damaging(0.981) deleterious(0) deleterious(0.870) NULL TOX2 84969 genome.wustl.edu 37 20 42574671 42574671 + Missense_Mutation SNP C C T novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_001098798.1 +1 validated p.P40L 0.274 82 0% 71 14.1% 0 - benign(0) tolerated(1) - NULL TFAP2C 7022 genome.wustl.edu 37 20 55212957 55212957 + Missense_Mutation SNP A A C novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_003222.3 +1 reviewed p.N414T 1.000 79 0% 79 19% 21 61.9% benign(0.104) tolerated(0.2) neutral(0.057) HMMPfam_TF_AP-2 SLCO4A1 28231 genome.wustl.edu 37 20 61299478 61299481 + Frame_Shift_Del DEL TTCG TTCG - novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 TTCG TTCG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_016354.3 +1 validated p.F585fs 1.000:1.000:1.000:0.998 - - - - - - - - - HMMPfam_OATP,superfamily_MFS general substrate transporter TIAM1 7074 genome.wustl.edu 37 21 32493072 32493072 + Missense_Mutation SNP C C T novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_003253.2 -1 validated p.A1464T 0.236 62 0% 38 31.6% 3 0% benign(0) tolerated(0.77) neutral(0.001) NULL ITSN1 6453 genome.wustl.edu 37 21 35199157 35199157 + Missense_Mutation SNP A A G novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 ENST00000437442 +1 known p.K71E 1.000 166 0% 119 24.4% 2 0% unknown(0) - - NULL COL6A2 1292 genome.wustl.edu 37 21 47545962 47545962 + Missense_Mutation SNP C C T novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_001849.3 +1 reviewed p.R745W 0.980 63 0% 53 17% 1502 13.5% probably_damaging(0.997) - - HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like TUBA8 51807 genome.wustl.edu 37 22 18604277 18604277 + Missense_Mutation SNP C C T novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_018943.1 +1 provisional p.A12V 1.000 90 0% 83 20.5% 0 - probably_damaging(0.993) - - HMMPfam_Tubulin,superfamily_Tubulin nucleotide-binding domain-like ARVCF 421 genome.wustl.edu 37 22 19967388 19967388 + Missense_Mutation SNP C C T novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_001670.1 -1 reviewed p.R425H 1.000 20 0% 22 36.4% 46 36.9% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Arm,HMMSmart_SM00185,superfamily_ARM repeat RGL4 266747 genome.wustl.edu 37 22 24038709 24038709 + Silent SNP G G A novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 ENST00000452208 +1 known p.P13 0.000 36 0% 33 36.4% 0 - possibly_damaging(0.732) - - NULL TFIP11 24144 genome.wustl.edu 37 22 26895242 26895242 + Missense_Mutation SNP C C T novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_001008697.1 -1 validated p.R386Q 0.999 81 0% 90 18.9% 62 37% benign(0.075) tolerated(0.47) neutral(0.016) NULL OSBP2 23762 genome.wustl.edu 37 22 31266547 31266547 + Missense_Mutation SNP G G A novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_030758.3 +1 reviewed p.A329T 0.998 119 0% 89 15.7% 19 52.6% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) NULL LIMK2 3985 genome.wustl.edu 37 22 31658603 31658603 + Missense_Mutation SNP C C T novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_001031801.1 +1 reviewed p.T206M 1.000 100 0% 114 18.4% 61 47.5% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_PDZ,HMMSmart_PDZ,superfamily_PDZ PICK1 9463 genome.wustl.edu 37 22 38470897 38470897 + Missense_Mutation SNP C C T novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_001039583.1 +1 reviewed p.R336C 1.000 103 0% 82 17.1% 161 52.1% probably_damaging(0.998) deleterious(0.02) deleterious(0.857) HMMPfam_Arfaptin MCHR1 2847 genome.wustl.edu 37 22 41077444 41077444 + Missense_Mutation SNP G G A novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_005297.3 +1 reviewed p.V261M 0.973 110 0% 71 14.1% 0 - benign(0.382) tolerated(0.15) neutral(0.363) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like PRPS2 5634 genome.wustl.edu 37 X 12817518 12817518 + Missense_Mutation SNP G G T novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_001039091.2 +1 reviewed p.E105D 0.000 127 0% 106 17.9% 1 100% benign(0.001) deleterious(0.03) neutral(0.364) superfamily_SSF53271 KLHL15 80311 genome.wustl.edu 37 X 24024180 24024180 + Missense_Mutation SNP G G A novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_030624.2 -1 reviewed p.R211C 1.000 180 0% 168 23.8% 3 66.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_BACK RBM10 8241 genome.wustl.edu 37 X 47039367 47039367 + Silent SNP C C T novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_005676.3 +1 reviewed p.N330 0.990 47 0% 41 17.1% 86 68.6% - - - HMMSmart_SM00360,superfamily_RNA-binding domain RBD TRO 7216 genome.wustl.edu 37 X 54956905 54956905 + Missense_Mutation SNP G G A novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_001039705.1 +1 reviewed p.G1250S 0.000 179 0% 172 16.9% 3 0% benign(0.142) tolerated(0.27) neutral(0.045) NULL SLC16A2 6567 genome.wustl.edu 37 X 73749177 73749177 + Missense_Mutation SNP A A G novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_006517.3 +1 reviewed p.I508V 1.000 364 0% 356 17.4% 0 - benign(0.006) tolerated(0.23) neutral(0.042) HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter GPRASP1 9737 genome.wustl.edu 37 X 101909252 101909252 + Missense_Mutation SNP G G T novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_001099410.1 +1 reviewed p.E137D 0.133 86 1.2% 78 17.9% 0 - possibly_damaging(0.476) deleterious(0.04) deleterious(0.506) NULL LRCH2 57631 genome.wustl.edu 37 X 114468485 114468485 + Silent SNP G G A novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_020871.3 -1 validated p.G40 0.998 45 0% 44 38.6% 0 - - - - NULL C1GALT1C1 29071 genome.wustl.edu 37 X 119760820 119760820 + Nonsense_Mutation SNP G G A rs137853598 TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_001011551.2 -1 reviewed p.R68* 0.996 215 0% 189 18% 10 0% - - - NULL THOC2 57187 genome.wustl.edu 37 X 122866868 122866868 + Missense_Mutation SNP G G A novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_001081550.1 -1 validated p.A2V 1.000 224 0% 207 18.4% 1 0% benign(0.058) deleterious(0.03) neutral(0.368) NULL SASH3 54440 genome.wustl.edu 37 X 128926543 128926543 + Missense_Mutation SNP G G T novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 ENST00000443760 +1 known p.G228C 0.006 172 0% 172 20.3% 2 0% unknown(0) deleterious(0) - NULL FMR1 2332 genome.wustl.edu 37 X 147030285 147030285 + Missense_Mutation SNP C C T novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_002024.5 +1 reviewed p.T607M 1.000 223 0.9% 165 16.4% 43 0% probably_damaging(0.993) deleterious(0) deleterious(0.895) NULL HCFC1 3054 genome.wustl.edu 37 X 153218220 153218220 + Missense_Mutation SNP C C T novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_005334.2 -1 reviewed p.G1563S 1.000 49 0% 45 17.8% 48 68.7% benign(0) tolerated(1) - NULL GAB3 139716 genome.wustl.edu 37 X 153906509 153906509 + Missense_Mutation SNP C C A novel TCGA-D1-A17B-01A-22D-A12J-09 TCGA-D1-A17B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cff83f73-f4a2-4e00-9de0-e5d4aa245ce5 08956a2b-fcee-44dc-9930-58dfb1151800 NM_001081573.1 -1 reviewed p.Q570H 0.987 325 0% 264 23.9% 3 0% probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL