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 FAM132A 388581 genome.wustl.edu 37 1 1179361 1179361 + Silent SNP C C T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_001014980.1 -1 provisional p.T168 0.532 5 0.000 15 0.333 1 0% - - - NULL CPSF3L 54973 genome.wustl.edu 37 1 1250899 1250899 + Splice_Site SNP C C T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_017871.4 -1 validated e5+1 1.000 119 0% 139 43.2% 11 63.6% - - - - DNAJC11 55735 genome.wustl.edu 37 1 6712895 6712895 + Missense_Mutation SNP C C A novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_018198.3 -1 validated p.W208C 1.000 268 0% 191 43.5% 14 28.5% probably_damaging(1) deleterious(0) deleterious(0.945) NULL C1orf187 374946 genome.wustl.edu 37 1 11769428 11769428 + Missense_Mutation SNP G G A novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_198545.3 +1 validated p.S183N 1.000 98 0% 89 37.1% 0 - probably_damaging(0.959) tolerated(0.2) neutral(0.452) NULL PDPN 10630 genome.wustl.edu 37 1 13933760 13933760 + Nonsense_Mutation SNP G G T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_006474.4 +1 reviewed p.G130* 0.001 127 0% 100 51% 7 0% - - - HMMPfam_Podoplanin MST1P9 11223 genome.wustl.edu 37 1 17086085 17086086 + RNA INS - - C novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NR_002729.2 -1 validated NULL 0.998:0.997 - - - - - - - - - - PLA2G2F 64600 genome.wustl.edu 37 1 20471142 20471142 + Missense_Mutation SNP C C A novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_022819.3 +1 validated p.H128Q 0.960 81 0% 76 39.5% 0 - benign(0.362) tolerated(0.21) neutral(0.159) HMMPfam_Phospholip_A2_1,HMMSmart_PA2c,superfamily_PhospholipaseA2 EPHA8 2046 genome.wustl.edu 37 1 22903062 22903062 + Missense_Mutation SNP G G A novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_020526.3 +1 reviewed p.R171H 0.999 47 0% 49 38.8% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Ephrin_lbd,HMMSmart_EPH_lbd,superfamily_Gal_bind_like ARID1A 8289 genome.wustl.edu 37 1 27057961 27057961 + Nonsense_Mutation SNP C C T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_006015.4 +1 reviewed p.Q557* 1.000 288 0% 273 45.4% 5 60% - - - NULL WDTC1 23038 genome.wustl.edu 37 1 27589701 27589701 + Missense_Mutation SNP G G A novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_015023.3 +1 validated p.R36Q 0.996 93 0% 79 36.7% 12 58.3% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) HMMSmart_SM00320 GPR3 2827 genome.wustl.edu 37 1 27720774 27720774 + Missense_Mutation SNP G G T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_005281.2 +1 provisional p.A158S 1.000 165 0% 166 44% 0 - benign(0.045) tolerated(0.51) neutral(0.011) HMMPfam_7tm_1,superfamily_SSF81321 B4GALT2 8704 genome.wustl.edu 37 1 44451218 44451218 + Missense_Mutation SNP G G A novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_001005417.1 +1 reviewed p.R298H 1.000 107 0% 98 39.8% 114 56.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Galactosyl_T_2,superfamily_Nucleotide-diphospho-sugar transferases SSBP3 23648 genome.wustl.edu 37 1 54707175 54707175 + Missense_Mutation SNP T T C novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_145716.2 -1 validated p.Y258C 1.000 159 0% 149 51.7% 67 28.3% probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_SSDP C1orf168 199920 genome.wustl.edu 37 1 57216870 57216870 + Missense_Mutation SNP C C T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_001004303.4 -1 validated p.A412T 0.001 187 0% 176 52.3% 2 50% possibly_damaging(0.832) tolerated(0.16) neutral(0.377) NULL PTGFR 5737 genome.wustl.edu 37 1 78963629 78963629 + Missense_Mutation SNP G G T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_001039585.1 +1 reviewed p.R290M 0.000 281 0% 269 43.9% 0 - unknown(0) - - NULL ARHGAP29 9411 genome.wustl.edu 37 1 94668248 94668248 + Missense_Mutation SNP C C T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_004815.3 -1 validated p.C332Y 1.000 366 0% 336 42.9% 1 0% benign(0.005) tolerated(1) - NULL AMIGO1 57463 genome.wustl.edu 37 1 110051211 110051211 + Silent SNP C C T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_020703.2 -1 validated p.P108 0.002 187 0% 181 45.3% 0 - - - - HMMSmart_LRR_TYP,superfamily_SSF52058 MOV10 4343 genome.wustl.edu 37 1 113217559 113217559 + Nonsense_Mutation SNP C C T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_001130079.1 +1 validated p.Q9* 1.000 35 0% 24 54.2% 1 100% - - - NULL CD160 11126 genome.wustl.edu 37 1 145704046 145704046 + Missense_Mutation SNP T T C novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_007053.2 -1 validated p.Q124R 0.873 38 0% 58 53.4% 0 - probably_damaging(0.957) tolerated(0.31) neutral(0.428) NULL HIST2H2AC 8338 genome.wustl.edu 37 1 149858869 149858870 + Frame_Shift_Del DEL TC TC - novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 TC TC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_003517.2 +1 reviewed p.L116fs 0.957:0.996 - - - - - - - - - HMMSmart_SM00414,superfamily_Histone-fold POGZ 23126 genome.wustl.edu 37 1 151397495 151397495 + Missense_Mutation SNP C C T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_015100.2 -1 reviewed p.R374Q 1.000 149 0% 137 47.4% 9 77.7% probably_damaging(0.999) deleterious(0.02) deleterious(0.873) superfamily_C2H2 and C2HC zinc fingers TCHH 7062 genome.wustl.edu 37 1 152081442 152081442 + Silent SNP G G A novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_007113.2 -1 provisional p.R1417 0.016 261 0.8% 212 42% 0 - - - - NULL TCHH 7062 genome.wustl.edu 37 1 152081705 152081705 + Missense_Mutation SNP G G A novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_007113.2 -1 provisional p.R1330C 0.000 197 0% 211 48.8% 0 - unknown(0) - - NULL HRNR 388697 genome.wustl.edu 37 1 152192121 152192121 + Missense_Mutation SNP G G A novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_001009931.1 -1 validated p.R662C 0.000 238 0% 263 40.7% 0 - unknown(0) - - NULL FAM189B 10712 genome.wustl.edu 37 1 155218265 155218265 + Splice_Site SNP C C A novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_006589.2 -1 validated e10-1 1.000 372 0% 303 45.5% 0 - - - - - SMG5 23381 genome.wustl.edu 37 1 156238080 156238080 + Splice_Site SNP C C A novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_015327.2 -1 validated e8+1 1.000 377 0% 396 49.5% 2 100% - - - - IGSF9 57549 genome.wustl.edu 37 1 159900547 159900547 + Missense_Mutation SNP C C T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_001135050.1 -1 validated p.S583N 1.000 43 0% 50 16% 16 6.2% probably_damaging(0.999) tolerated(0.08) deleterious(0.790) HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like ATP1A4 480 genome.wustl.edu 37 1 160141394 160141394 + Silent SNP G G A novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_144699.3 +1 reviewed p.L567 0.999 213 0% 198 39.4% 0 - - - - HMMPfam_Hydrolase,superfamily_HAD-like,superfamily_Metal cation-transporting ATPase ATP-binding domain N,superfamily_Calcium ATPase transmembrane domain M CD84 8832 genome.wustl.edu 37 1 160519728 160519728 + Nonsense_Mutation SNP G G A novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 ENST00000368051 -1 known p.R268* 0.186 158 0.6% 164 44.5% 0 - - - - NULL ALDH9A1 223 genome.wustl.edu 37 1 165649814 165649814 + Silent SNP C C T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_000696.3 -1 reviewed p.V233 1.000 64 0% 54 48.1% 59 35.5% - - - HMMPfam_Aldedh,superfamily_Aldehyde_DH/Histidinol_DH FAM5B 57795 genome.wustl.edu 37 1 177250475 177250475 + Silent SNP T T C novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_021165.2 +1 provisional p.I721 0.999 95 0% 103 42.7% 0 - - - - NULL KIAA1614 57710 genome.wustl.edu 37 1 180885602 180885602 + Silent SNP C C T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_020950.1 +1 validated p.G121 0.000 68 0% 61 45.9% 0 - - - - NULL SWT1 54823 genome.wustl.edu 37 1 185143815 185143816 + Frame_Shift_Del DEL AG AG - novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 AG AG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_001105518.1 +1 validated p.K182fs 0.936:0.183 - - - - - - - - - NULL CFHR2 3080 genome.wustl.edu 37 1 196918738 196918738 + Missense_Mutation SNP C C T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_005666.2 +1 validated p.T71M 0.000 377 0% 325 36.6% 0 - possibly_damaging(0.912) tolerated(0.08) deleterious(0.663) HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain GPR37L1 9283 genome.wustl.edu 37 1 202097567 202097567 + Silent SNP G G A novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_004767.3 +1 validated p.S443 0.000 56 0% 68 29.4% 0 - - - - NULL PPFIA4 8497 genome.wustl.edu 37 1 203024597 203024597 + Missense_Mutation SNP G G A novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_015053.1 +1 validated p.A117T 0.992 100 0% 102 40.2% 5 20% possibly_damaging(0.89) deleterious(0) deleterious(0.794) NULL LAX1 54900 genome.wustl.edu 37 1 203740521 203740521 + Missense_Mutation SNP G G A novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_017773.3 +1 validated p.V76I 0.001 159 0% 134 49.3% 1 100% benign(0.039) tolerated(0.8) neutral(0.003) NULL PIGR 5284 genome.wustl.edu 37 1 207109015 207109015 + Silent SNP C C T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_002644.3 -1 reviewed p.L398 0.748 34 0% 32 37.5% 57 42.1% - - - HMMSmart_IG,HMMPfam_V-set,superfamily_SSF48726 C1orf116 79098 genome.wustl.edu 37 1 207195412 207195412 + Missense_Mutation SNP C C T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_023938.5 -1 validated p.R566H 0.604 75 0% 70 42.9% 2 50% benign(0.041) tolerated(0.35) neutral(0.023) NULL TMEM63A 9725 genome.wustl.edu 37 1 226044713 226044713 + Missense_Mutation SNP G G A novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_014698.2 -1 validated p.P461L 1.000 146 0% 143 47.6% 144 57.6% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_DUF221 LIN9 286826 genome.wustl.edu 37 1 226453982 226453982 + Missense_Mutation SNP G G A novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_173083.2 -1 provisional p.R306W 1.000 324 0% 288 47.6% 8 62.5% probably_damaging(1) deleterious(0) deleterious(0.945) NULL TRIM67 440730 genome.wustl.edu 37 1 231344710 231344710 + Missense_Mutation SNP G G A novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_001004342.3 +1 validated p.D613N 1.000 80 0% 78 46.2% 0 - probably_damaging(0.997) tolerated(0.07) deleterious(0.785) superfamily_Concanavalin A-like lectins/glucanases LYST 1130 genome.wustl.edu 37 1 235920622 235920622 + Missense_Mutation SNP C C T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_000081.2 -1 reviewed p.V2340I 0.985 342 0% 236 43.6% 1 0% possibly_damaging(0.934) - - NULL GPR113 165082 genome.wustl.edu 37 2 26534622 26534622 + Silent SNP C C T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_001145168.1 -1 validated p.V658 0.987 91 0% 94 48.9% 0 - - - - NULL CAD 790 genome.wustl.edu 37 2 27449066 27449066 + Missense_Mutation SNP G G A novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_004341.3 +1 reviewed p.S637N 1.000 174 0% 187 41.7% 5 20% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_CPSase_L_D2,superfamily_SSF56059 SPRED2 200734 genome.wustl.edu 37 2 65561814 65561814 + Missense_Mutation SNP G G A novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_181784.2 -1 validated p.L100F 1.000 246 0% 181 40.3% 9 66.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_WH1,HMMSmart_SM00461,superfamily_PH domain-like PNO1 56902 genome.wustl.edu 37 2 68389401 68389401 + Missense_Mutation SNP C C T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_020143.2 +1 provisional p.A149V 1.000 389 0% 366 42.3% 10 30% probably_damaging(1) deleterious(0) deleterious(0.945) NULL TNFAIP6 7130 genome.wustl.edu 37 2 152236046 152236048 + In_Frame_Del DEL AAA AAA - rs71403164 byCluster TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 AAA AAA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_007115.2 +1 reviewed p.*278in_frame_del 0.961:0.953 - - - - - - - - - NULL PKP4 8502 genome.wustl.edu 37 2 159481462 159481462 + Missense_Mutation SNP A A C novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_003628.3 +1 reviewed p.I226L 1.000 179 0% 191 55.5% 13 38.4% benign(0) tolerated(0.35) neutral(0.021) NULL DYNC1I2 1781 genome.wustl.edu 37 2 172546703 172546703 + Missense_Mutation SNP G G A novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_001378.1 +1 provisional p.R13H 1.000 257 0% 171 48.5% 34 35.2% probably_damaging(1) deleterious(0) deleterious(0.945) NULL DYNC1I2 1781 genome.wustl.edu 37 2 172563806 172563806 + Missense_Mutation SNP C C T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_001378.1 +1 provisional p.P85L 1.000 267 0% 237 42.2% 47 40.4% benign(0.406) deleterious(0.04) deleterious(0.479) NULL RAPGEF4 11069 genome.wustl.edu 37 2 173853440 173853440 + Missense_Mutation SNP A A G novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_007023.3 +1 validated p.H416R 1.000 120 0% 135 46.7% 2 100% probably_damaging(1) tolerated(0.46) deleterious(0.512) HMMPfam_cNMP_binding,HMMSmart_SM00100,superfamily_cAMP-binding domain-like MTX2 10651 genome.wustl.edu 37 2 177193631 177193631 + Silent SNP A A G novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_006554.4 +1 reviewed p.T136 1.000 406 0% 316 42.4% 121 46.2% - - - superfamily_GST_C_like,HMMPfam_Tom37 FZD7 8324 genome.wustl.edu 37 2 202900316 202900316 + Missense_Mutation SNP G G A novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_003507.1 +1 reviewed p.V316M 1.000 36 0% 37 43.2% 0 - benign(0.002) tolerated(0.24) neutral(0.037) HMMPfam_Frizzled TTLL4 9654 genome.wustl.edu 37 2 219602910 219602910 + Missense_Mutation SNP G G A novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_014640.4 +1 validated p.A171T 0.332 74 0% 69 46.4% 0 - possibly_damaging(0.839) deleterious(0) deleterious(0.765) NULL FAM134A 79137 genome.wustl.edu 37 2 220047058 220047058 + Missense_Mutation SNP G G A novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_024293.4 +1 validated p.G447S 0.976 81 0% 117 33.3% 125 32.8% benign(0) tolerated(1) - NULL ASIC4 55515 genome.wustl.edu 37 2 220396552 220396552 + Missense_Mutation SNP G G A novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_018674.4 +1 reviewed p.G346S 1.000 47 0% 31 38.7% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_ASC PID1 55022 genome.wustl.edu 37 2 229890504 229890504 + Silent SNP G G A novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_017933.4 -1 validated p.A197 0.970 111 0% 159 46.5% 0 - - - - superfamily_SSF50729 SP140 11262 genome.wustl.edu 37 2 231159016 231159016 + Missense_Mutation SNP C C T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_007237.4 +1 validated p.R667C 0.002 299 0% 244 43.9% 0 - benign(0.09) deleterious(0.04) neutral(0.355) superfamily_SAND domain-like GIGYF2 26058 genome.wustl.edu 37 2 233708929 233708929 + Silent SNP G G A novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_001103147.1 +1 reviewed p.Q1042 0.999 87 0% 85 54.1% 22 59% unknown(0) - - NULL OR6B2 389090 genome.wustl.edu 37 2 240969689 240969689 + Missense_Mutation SNP G G A novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_001005853.1 -1 provisional p.T53I 0.000 235 0% 230 38.3% 0 - benign(0.002) tolerated(0.23) neutral(0.042) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like AGXT 189 genome.wustl.edu 37 2 241818207 241818207 + Missense_Mutation SNP C C T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_000030.2 +1 reviewed p.A383V 1.000 20 0% 29 44.8% 0 - probably_damaging(0.999) tolerated(0.22) deleterious(0.532) superfamily_PLP-dependent transferases PASK 23178 genome.wustl.edu 37 2 242063393 242063393 + Missense_Mutation SNP C C T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_015148.2 -1 validated p.A959T 0.069 74 0% 97 34% 7 14.2% benign(0.143) tolerated(0.38) neutral(0.030) NULL PASK 23178 genome.wustl.edu 37 2 242066758 242066758 + Missense_Mutation SNP G G C novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_015148.2 -1 validated p.S524R 0.000 57 0% 91 41.8% 6 50% benign(0.147) deleterious(0.01) neutral(0.419) NULL GRIP2 80852 genome.wustl.edu 37 3 14545084 14545084 + Missense_Mutation SNP C C A novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_001080423.1 -1 provisional p.R988M 1.000 55 0% 44 52.3% 0 - - - - NULL NGLY1 55768 genome.wustl.edu 37 3 25777495 25777495 + Missense_Mutation SNP C C A novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_018297.3 -1 reviewed p.E383D 1.000 197 0% 149 32.9% 15 0% probably_damaging(0.979) tolerated(0.2) deleterious(0.471) superfamily_Cysteine proteinases RPL14 9045 genome.wustl.edu 37 3 40503520 40503521 + In_Frame_Ins INS - - CTG rs61749576 byFrequency TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_001034996.1 +1 reviewed p.153in_frame_insA 0.019:0.022 - - - - - - - - - NULL DZIP3 9666 genome.wustl.edu 37 3 108381042 108381042 + Missense_Mutation SNP G G T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_014648.3 +1 validated p.K787N 1.000 220 0% 204 34.8% 11 27.2% probably_damaging(0.989) deleterious(0) deleterious(0.884) NULL KY 339855 genome.wustl.edu 37 3 134322879 134322879 + Missense_Mutation SNP G G A novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_178554.4 -1 validated p.R510C 1.000 66 0% 83 32.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) NULL ESYT3 83850 genome.wustl.edu 37 3 138191325 138191325 + Nonsense_Mutation SNP G G T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_031913.3 +1 validated p.E621* 0.001 133 0% 131 51.9% 0 - - - - NULL GRK7 131890 genome.wustl.edu 37 3 141497445 141497445 + Nonsense_Mutation SNP C C T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_139209.2 +1 reviewed p.Q107* 0.018 9 0.000 17 0.471 0 - - - - HMMPfam_RGS,HMMSmart_RGS,superfamily_Regulat_G_prot_signal_superfam PIK3CA 5290 genome.wustl.edu 37 3 178928297 178928297 + Missense_Mutation SNP C C T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_006218.2 +1 reviewed p.H495Y 1.000 243 0% 269 48% 4 75% benign(0) tolerated(0.89) - NULL RTP4 64108 genome.wustl.edu 37 3 187086321 187086321 + Missense_Mutation SNP G G A novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_022147.2 +1 validated p.G31D 0.009 181 0% 144 44.4% 1 0% benign(0.174) tolerated(0.68) neutral(0.018) NULL MUC4 4585 genome.wustl.edu 37 3 195512122 195512122 + Missense_Mutation SNP G G A novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_018406.5 -1 reviewed p.A2110V 0.797 1446 0% 1265 16.1% 0 - possibly_damaging(0.748) - - NULL LMLN 89782 genome.wustl.edu 37 3 197765764 197765783 + RNA DEL CCAACCACCTCGTCAGCAAC CCAACCACCTCGTCAGCAAC - novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 CCAACCACCTCGTCAGCAAC CCAACCACCTCGTCAGCAAC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NR_026786.1 +1 reviewed NULL 0.971:0.959:0.901:0.867:0.858:0.787:0.708:0.651:0.287:0.226:0.185:0.169:0.950:0.966:0.978:0.992:0.994:0.996:0.996:0.994 - - - - - - - - - - SLC26A1 10861 genome.wustl.edu 37 4 982726 982726 + Silent SNP G G A novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_022042.2 -1 reviewed p.P667 0.002 24 0% 28 42.9% 1 100% - - - HMMPfam_STAS,superfamily_STAS AFAP1 60312 genome.wustl.edu 37 4 7774681 7774681 + Missense_Mutation SNP G G A novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_001134647.1 -1 reviewed p.R707W 0.993 58 0% 67 44.8% 2 0% probably_damaging(0.994) deleterious(0) deleterious(0.897) NULL KLHL8 57563 genome.wustl.edu 37 4 88104381 88104381 + Missense_Mutation SNP C C T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_020803.3 -1 validated p.R309Q 1.000 314 0% 267 47.9% 3 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Galactose oxidase central domain NDST4 64579 genome.wustl.edu 37 4 115792022 115792022 + Nonsense_Mutation SNP G G A novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_022569.1 -1 provisional p.Q541* 1.000 312 0% 274 45.6% 0 - - - - NULL TBC1D9 23158 genome.wustl.edu 37 4 141578311 141578311 + Silent SNP G G A novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_015130.2 -1 validated p.S759 0.191 366 0.3% 304 40.5% 12 41.6% - - - superfamily_Ypt/Rab-GAP domain of gyp1p FREM3 166752 genome.wustl.edu 37 4 144621353 144621353 + Missense_Mutation SNP G G A novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 ENST00000329798 -1 known p.A159V 0.678 19 0% 17 47.1% 0 - benign(0) tolerated(0.13) neutral(0.253) NULL TTC29 83894 genome.wustl.edu 37 4 147830370 147830370 + Missense_Mutation SNP C C T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_031956.2 -1 validated p.V70M 1.000 100 0% 116 44.8% 9 66.6% possibly_damaging(0.731) tolerated(0.14) deleterious(0.516) NULL ARHGAP10 79658 genome.wustl.edu 37 4 148886229 148886229 + Missense_Mutation SNP T T C novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_024605.3 +1 validated p.L502P 1.000 213 0% 172 41.9% 5 20% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_RhoGAP,HMMSmart_RhoGAP,superfamily_Rho_GAP TRIM75 391714 genome.wustl.edu 37 4 165981667 165981667 + Silent SNP A A G novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 ENST00000322402 +1 known p.S456 0.002 114 0% 121 34.7% 0 - - - - HMMPfam_SPRY,HMMSmart_SPRY FAT1 2195 genome.wustl.edu 37 4 187517848 187517848 + Silent SNP G G A novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 ENST00000512772 -1 known p.R50* 0.061 195 0% 149 40.9% 23 17.3% - - - NULL TRIML1 339976 genome.wustl.edu 37 4 189063480 189063480 + Missense_Mutation SNP G G T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_178556.3 +1 provisional p.E193D 0.430 140 0% 139 38.8% 0 - probably_damaging(0.969) deleterious(0.02) deleterious(0.794) NULL FASTKD3 79072 genome.wustl.edu 37 5 7867808 7867808 + Missense_Mutation SNP G G A novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_024091.2 -1 validated p.A130V 0.999 155 0% 161 41% 2 50% benign(0.009) tolerated(0.23) neutral(0.042) NULL PDZD2 23037 genome.wustl.edu 37 5 32053973 32053973 + Silent SNP C C T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_178140.2 +1 reviewed p.D628 0.996 251 0% 222 51.8% 0 - - - - HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like SPEF2 79925 genome.wustl.edu 37 5 35641649 35641649 + Missense_Mutation SNP C C T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_024867.3 +1 validated p.A93V 1.000 180 0% 228 50.4% 8 50% probably_damaging(1) tolerated(0.05) deleterious(0.845) HMMPfam_DUF1042 PIK3R1 5295 genome.wustl.edu 37 5 67591106 67591106 + Missense_Mutation SNP A A G novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_181523.1 +1 reviewed p.K567E 1.000 289 0% 311 45.7% 126 54.7% probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL MCCC2 64087 genome.wustl.edu 37 5 70900248 70900248 + Missense_Mutation SNP C C T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_022132.4 +1 reviewed p.R193C 1.000 384 0% 357 44.5% 24 58.3% benign(0.189) deleterious(0) neutral(0.462) HMMPfam_Carboxyl_trans,superfamily_ClpP/crotonase BHMT2 23743 genome.wustl.edu 37 5 78379053 78379053 + Missense_Mutation SNP G G A novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_017614.4 +1 reviewed p.D213N 0.000 90 0% 98 46.9% 0 - benign(0.016) tolerated(0.72) neutral(0.002) HMMPfam_S-methyl_trans,superfamily_S_methyl_trans MAN2A1 4124 genome.wustl.edu 37 5 109117235 109117235 + Missense_Mutation SNP A A G novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_002372.2 +1 reviewed p.S505G 1.000 280 0.4% 249 43.8% 4 25% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Alpha-mann_mid,superfamily_SSF88688 SNX2 6643 genome.wustl.edu 37 5 122153039 122153039 + Missense_Mutation SNP G G A novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_003100.2 +1 reviewed p.S326N 1.000 382 0% 316 39.2% 81 38.2% benign(0.001) tolerated(0.21) neutral(0.044) HMMPfam_Vps5 MEGF10 84466 genome.wustl.edu 37 5 126771171 126771171 + Silent SNP C C T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_032446.2 +1 validated p.D698 1.000 236 0% 185 40% 0 - - - - HMMSmart_SM00181,PatternScan_EGF_1,PatternScan_EGF_2,superfamily_EGF/Laminin PCDHA11 56138 genome.wustl.edu 37 5 140250348 140250348 + Missense_Mutation SNP G G A novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_018902.3 +1 reviewed p.V554M 0.997 44 0% 42 52.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Cadherin-like PCDHGA4 56111 genome.wustl.edu 37 5 140735405 140735405 + Frame_Shift_Del DEL C C - novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_018917.2 +1 reviewed p.T213fs 0.997 - - - - - - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like DOCK2 1794 genome.wustl.edu 37 5 169468087 169468087 + Missense_Mutation SNP C C A novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_004946.2 +1 validated p.L1232M 0.997 201 0% 225 46.2% 3 0% possibly_damaging(0.531) tolerated(0.26) neutral(0.213) NULL C5orf25 375484 genome.wustl.edu 37 5 175716731 175716731 + Silent SNP A A G novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 ENST00000420396 +1 known p.T49 0.604 271 0% 251 45% 1 0% - - - NULL ARL10 285598 genome.wustl.edu 37 5 175793474 175793474 + Missense_Mutation SNP C C T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_173664.4 +1 validated p.T92M 0.977 47 0% 45 55.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Arf,superfamily_SSF52540 NSD1 64324 genome.wustl.edu 37 5 176720989 176720989 + Missense_Mutation SNP C C A novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_022455.4 +1 reviewed p.P2207H 1.000 113 0% 136 45.6% 13 69.2% probably_damaging(1) deleterious(0) deleterious(0.945) NULL ENSG00000170089 0 genome.wustl.edu 37 5 177309754 177309754 + Splice_Site SNP G G A novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 ENST00000303154 +1 known NULL 1.000 246 0% 263 21.3% 11 36.3% - - - - PRPF4B 8899 genome.wustl.edu 37 6 4042759 4042759 + Missense_Mutation SNP C C T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_003913.4 +1 reviewed p.A536V 1.000 331 0% 259 38.6% 12 33.3% unknown(0) tolerated(0.07) - NULL RREB1 6239 genome.wustl.edu 37 6 7246811 7246811 + Missense_Mutation SNP G G A novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 ENST00000274670 +1 known p.R1173Q 0.000 23 0% 13 53.8% 19 52.6% - - - NULL HIVEP1 3096 genome.wustl.edu 37 6 12161723 12161723 + Missense_Mutation SNP C C T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_002114.2 +1 validated p.S2180F 1.000 108 0% 85 47.1% 8 62.5% probably_damaging(0.99) deleterious(0.02) deleterious(0.825) NULL TRIM38 10475 genome.wustl.edu 37 6 25967119 25967119 + Silent SNP G G A novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_006355.2 +1 reviewed p.G123 0.048 34 0% 44 54.5% 9 44.4% - - - HMMPfam_zf-B_box,HMMSmart_BBOX HIST1H4F 8361 genome.wustl.edu 37 6 26240939 26240939 + Missense_Mutation SNP C C T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_003540.3 +1 reviewed p.R96C 1.000 99 0% 96 39.6% 0 - probably_damaging(1) deleterious(0.01) deleterious(0.905) superfamily_Histone-fold DAAM2 23500 genome.wustl.edu 37 6 39864593 39864593 + Silent SNP C C T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_015345.2 +1 validated p.L783 1.000 23 0% 36 47.2% 0 - - - - HMMSmart_SM00498,HMMPfam_FH2,superfamily_Formin homology 2 domain (FH2 domain) PPP2R5D 5528 genome.wustl.edu 37 6 42978373 42978373 + Missense_Mutation SNP C C T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 ENST00000486843 +1 known p.P116L 0.001 232 0% 214 12.6% 1 100% unknown(0) tolerated(0.22) - HMMPfam_B56 IBTK 25998 genome.wustl.edu 37 6 82949978 82949978 + Missense_Mutation SNP C C A novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_015525.2 -1 reviewed p.V76L 1.000 284 0% 250 40% 3 33.3% possibly_damaging(0.748) tolerated(0.05) deleterious(0.620) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat LACE1 246269 genome.wustl.edu 37 6 108676912 108676912 + Missense_Mutation SNP G G A novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_145315.3 +1 reviewed p.R157K 1.000 327 0% 244 41.8% 2 0% benign(0) tolerated(0.56) neutral(0.006) HMMPfam_AFG1_ATPase,superfamily_SSF52540 HEY2 23493 genome.wustl.edu 37 6 126075692 126075719 + Frame_Shift_Del DEL GGTAAGTAGATGACTTCATTTTTTTTTT GGTAAGTAGATGACTTCATTTTTTTTTT - novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 GGTAAGTAGATGACTTCATTTTTTTTTT GGTAAGTAGATGACTTCATTTTTTTTTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_012259.2 +1 reviewed p.G110fs 1.000 - - - - - - - - - superfamily_HLH_basic THEMIS 387357 genome.wustl.edu 37 6 128150751 128150751 + Silent SNP A A G novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_001010923.2 -1 reviewed p.P193 0.994 212 0% 246 48% 1 0% - - - NULL IFNGR1 3459 genome.wustl.edu 37 6 137519504 137519505 + Frame_Shift_Ins INS - - CT novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_000416.2 -1 reviewed p.S378fs 0.036:0.000 - - - - - - - - - HMMPfam_IFNGR1 KIAA1244 57221 genome.wustl.edu 37 6 138644865 138644865 + Silent SNP C C T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_020340.4 +1 validated p.C1608 1.000 131 0% 124 42.7% 9 66.6% - - - NULL EZR 7430 genome.wustl.edu 37 6 159190425 159190425 + Missense_Mutation SNP G G A novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_001111077.1 -1 reviewed p.A426V 0.979 86 0% 104 47.1% 236 45.7% benign(0) tolerated(0.26) neutral(0.034) HMMPfam_ERM AGPAT4 56895 genome.wustl.edu 37 6 161575308 161575308 + Missense_Mutation SNP T T C novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_020133.2 -1 reviewed p.Y128C 0.991 103 0% 81 51.9% 15 46.6% benign(0.108) deleterious(0.02) neutral(0.392) HMMPfam_Acyltransferase,HMMSmart_PlsC,superfamily_SSF69593 FERD3L 222894 genome.wustl.edu 37 7 19184847 19184847 + Nonsense_Mutation SNP G G A novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_152898.2 -1 validated p.R47* 0.000 21 0% 30 66.7% 0 - - - - NULL ABCB5 340273 genome.wustl.edu 37 7 20721129 20721129 + Missense_Mutation SNP C C T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_178559.5 +1 validated p.A125V 1.000 245 0.4% 197 33.5% 1 0% benign(0.142) tolerated(0.24) neutral(0.050) HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases HIBADH 11112 genome.wustl.edu 37 7 27669062 27669062 + Missense_Mutation SNP C C T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_152740.2 -1 validated p.A138T 0.978 506 0% 356 35.7% 44 38.6% benign(0) tolerated(0.48) neutral(0.011) HMMPfam_NAD_binding_2,superfamily_NAD(P)-binding Rossmann-fold domains SCRN1 9805 genome.wustl.edu 37 7 29983772 29983772 + Missense_Mutation SNP G G A novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_001145514.1 -1 reviewed p.T142I 1.000 190 0% 175 38.3% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL HECW1 23072 genome.wustl.edu 37 7 43351657 43351657 + Missense_Mutation SNP C C T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_015052.3 +1 validated p.A108V 1.000 148 0% 139 36.7% 0 - probably_damaging(0.998) deleterious(0.04) deleterious(0.823) NULL ANKIB1 54467 genome.wustl.edu 37 7 91936716 91936716 + Missense_Mutation SNP C C T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_019004.1 +1 validated p.H78Y 1.000 35 0% 65 38.5% 7 71.4% possibly_damaging(0.913) tolerated(0.12) deleterious(0.625) superfamily_ANK SGCE 8910 genome.wustl.edu 37 7 94229973 94229973 + Missense_Mutation SNP C C T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_001099401.1 -1 reviewed p.C341Y 1.000 94 0% 91 42.9% 30 73.3% probably_damaging(0.995) tolerated(0.09) deleterious(0.754) HMMPfam_Sarcoglycan_2 ZKSCAN1 7586 genome.wustl.edu 37 7 99631749 99631750 + Frame_Shift_Del DEL AG AG - novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 AG AG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_003439.1 +1 validated p.R543fs 0.322:0.996 - - - - - - - - - superfamily_C2H2 and C2HC zinc fingers MEPCE 56257 genome.wustl.edu 37 7 100031137 100031137 + Missense_Mutation SNP C C A novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_019606.4 +1 provisional p.P677H 1.000 155 0% 129 45.7% 78 50% possibly_damaging(0.937) deleterious(0) deleterious(0.828) HMMPfam_Bin3,superfamily_SSF53335 CUX1 1523 genome.wustl.edu 37 7 101882719 101882719 + Missense_Mutation SNP C C T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_181552.2 +1 reviewed p.R1248W 1.000 65 0% 74 36.5% 4 75% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like RELN 5649 genome.wustl.edu 37 7 103143535 103143535 + Missense_Mutation SNP T T C novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_005045.3 -1 reviewed p.Q2806R 1.000 201 0% 190 46.8% 0 - possibly_damaging(0.495) tolerated(0.16) neutral(0.225) superfamily_Sialidase NAMPT 10135 genome.wustl.edu 37 7 105891602 105891602 + Missense_Mutation SNP G G A novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_005746.2 -1 reviewed p.T468I 1.000 463 0% 434 38.9% 11 27.2% benign(0) tolerated(0.2) neutral(0.049) NULL TMEM168 64418 genome.wustl.edu 37 7 112407529 112407529 + Missense_Mutation SNP G G A novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_022484.4 -1 validated p.T606I 0.998 243 0% 240 43.3% 22 63.6% possibly_damaging(0.475) tolerated(0.07) deleterious(0.476) NULL PRRT4 401399 genome.wustl.edu 37 7 127999678 127999678 + Missense_Mutation SNP C C T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_001114726.2 -1 validated p.R123Q 0.524 25 4% 31 48.4% 0 - possibly_damaging(0.944) tolerated(0.39) neutral(0.405) NULL IRF5 3663 genome.wustl.edu 37 7 128587312 128587312 + Silent SNP A A G novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_001098629.1 +1 reviewed p.T170 0.042 30 0% 35 42.9% 1 0% - - - NULL TNPO3 23534 genome.wustl.edu 37 7 128633943 128633943 + Missense_Mutation SNP T T C novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_012470.2 -1 validated p.D395G 1.000 268 0% 262 42.7% 12 41.6% probably_damaging(0.994) deleterious(0.05) deleterious(0.797) superfamily_ARM repeat C7orf49 78996 genome.wustl.edu 37 7 134851582 134851582 + Silent SNP C C T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_024033.2 -1 validated p.A85 0.000 56 0% 54 48.1% 24 50% - - - NULL TAS2R4 50832 genome.wustl.edu 37 7 141478715 141478715 + Missense_Mutation SNP A A G novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_016944.1 +1 reviewed p.T143A 0.000 189 0% 242 51.2% 0 - benign(0.055) tolerated(0.29) neutral(0.033) HMMPfam_TAS2R,superfamily_SSF81321 TRBV3-1 28619 genome.wustl.edu 37 7 142008629 142008629 + Missense_Mutation SNP G G A novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 ENST00000390387 +1 known p.M34I 0.000 143 0% 173 42.8% 2 0% benign(0.085) tolerated(0.09) neutral(0.302) HMMPfam_V-set,superfamily_SSF48726 ZNF862 643641 genome.wustl.edu 37 7 149547316 149547316 + Missense_Mutation SNP G G A novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_001099220.1 +1 provisional p.E336K 1.000 552 0% 519 46.8% 3 0% probably_damaging(0.995) tolerated(0.1) deleterious(0.744) HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) PAXIP1 22976 genome.wustl.edu 37 7 154775001 154775001 + Silent SNP C C T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_007349.3 -1 reviewed p.T122 0.014 135 0% 117 45.3% 3 100% - - - HMMPfam_BRCT,HMMSmart_SM00292,superfamily_BRCT domain UBE3C 9690 genome.wustl.edu 37 7 157046958 157046958 + Missense_Mutation SNP A A C novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_014671.2 +1 validated p.Q968H 1.000 256 0% 177 40.1% 23 39.1% benign(0.002) tolerated(0.21) neutral(0.044) HMMPfam_HECT,HMMSmart_SM00119,superfamily_Hect E3 ligase catalytic domain DLGAP2 9228 genome.wustl.edu 37 8 1616660 1616660 + Missense_Mutation SNP G G A novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_004745.3 +1 reviewed p.G579D 0.994 19 0% 17 47.1% 0 - benign(0.341) tolerated(0.11) neutral(0.379) NULL SLC35G5 83650 genome.wustl.edu 37 8 11189198 11189198 + Nonsense_Mutation SNP C C T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_054028.1 +1 reviewed p.Q195* 0.378 166 0% 168 39.9% 0 - - - - NULL BMP1 649 genome.wustl.edu 37 8 22066975 22066975 + Missense_Mutation SNP C C T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_006129.4 +1 reviewed p.R865W 0.992 74 0% 76 46.1% 10 20% probably_damaging(0.965) deleterious(0.01) deleterious(0.812) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain TEX15 56154 genome.wustl.edu 37 8 30703276 30703276 + Silent SNP T T C novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_031271.3 -1 validated p.L1086 0.000 328 0% 255 42.4% 0 - - - - NULL GOT1L1 137362 genome.wustl.edu 37 8 37794491 37794491 + Missense_Mutation SNP T T C novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_152413.2 -1 validated p.M202V 0.000 326 0% 275 39.3% 0 - benign(0) tolerated(1) - HMMPfam_Aminotran_1_2,superfamily_PLP-dependent transferases POTEA 340441 genome.wustl.edu 37 8 43147653 43147653 + Missense_Mutation SNP T T C novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_001005365.2 +1 validated p.L9P 0.000 52 0% 51 47.1% 0 - - - - NULL RALYL 138046 genome.wustl.edu 37 8 85774589 85774589 + Missense_Mutation SNP C C T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_001100391.1 +1 validated p.R171C 1.000 145 0% 135 47.4% 0 - benign(0.001) deleterious(0.03) neutral(0.364) NULL TSPYL5 85453 genome.wustl.edu 37 8 98288864 98288864 + Silent SNP C C T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_033512.2 -1 validated p.K403 0.010 175 0% 135 42.2% 0 - - - - NULL PKHD1L1 93035 genome.wustl.edu 37 8 110460447 110460447 + Missense_Mutation SNP A A G novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_177531.4 +1 validated p.N1951S 0.001 203 0% 188 43.1% 0 - benign(0) tolerated(0.42) neutral(0.014) HMMPfam_TIG,HMMSmart_SM00429,superfamily_E set domains CSMD3 114788 genome.wustl.edu 37 8 113585871 113585871 + Missense_Mutation SNP C C G novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_198123.1 -1 validated p.D1301H 1.000 190 0% 164 39% 0 - probably_damaging(0.999) tolerated(0.26) deleterious(0.524) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain COL22A1 169044 genome.wustl.edu 37 8 139890128 139890128 + Missense_Mutation SNP C C T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_152888.1 -1 validated p.V175M 1.000 15 0.000 9 0.778 1 0% unknown(0) deleterious(0.02) - HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like TRAPPC9 83696 genome.wustl.edu 37 8 140744251 140744251 + Missense_Mutation SNP C C T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_031466.5 -1 reviewed p.V1182M 1.000 68 0% 61 42.6% 33 36.3% possibly_damaging(0.889) tolerated(0.1) deleterious(0.636) NULL CYP11B2 1585 genome.wustl.edu 37 8 143994295 143994295 + Silent SNP G G A novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_000498.3 -1 reviewed p.Y376 0.999 108 0% 115 43.5% 0 - - - - HMMPfam_p450,superfamily_Cytochrome P450 PYCRL 65263 genome.wustl.edu 37 8 144687931 144687931 + Missense_Mutation SNP G G A novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_023078.2 -1 validated p.A267V 0.997 31 0% 43 46.5% 15 46.6% probably_damaging(0.999) tolerated(0.08) deleterious(0.790) HMMPfam_F420_oxidored DMRT3 58524 genome.wustl.edu 37 9 990202 990202 + Missense_Mutation SNP G G A novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_021240.2 +1 validated p.A206T 0.126 54 0% 66 37.9% 0 - benign(0.191) tolerated(0.14) neutral(0.268) NULL ZCCHC7 84186 genome.wustl.edu 37 9 37354783 37354783 + Missense_Mutation SNP T T C novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_032226.2 +1 validated p.I387T 1.000 176 0% 164 45.7% 14 64.2% probably_damaging(0.995) deleterious(0.02) deleterious(0.841) NULL VPS13A 23230 genome.wustl.edu 37 9 79843179 79843182 + Frame_Shift_Del DEL AAGT AAGT - novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 AAGT AAGT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_033305.2 +1 reviewed p.K532fs 1.000:1.000 - - - - - - - - - NULL COL15A1 1306 genome.wustl.edu 37 9 101706499 101706499 + Missense_Mutation SNP C C A novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_001855.3 +1 reviewed p.L23I 0.811 53 0% 51 43.1% 7 0% possibly_damaging(0.791) - - superfamily_ConA_like_lec_gl ALDOB 229 genome.wustl.edu 37 9 104193145 104193145 + Missense_Mutation SNP T T C novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_000035.3 -1 reviewed p.T9A 1.000 222 0% 201 42.3% 0 - benign(0.048) tolerated(0.05) neutral(0.348) superfamily_Aldolase C9orf125 84302 genome.wustl.edu 37 9 104238408 104238408 + Missense_Mutation SNP G G T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_032342.1 -1 provisional p.L323M 0.972 130 0% 108 43.5% 0 - possibly_damaging(0.95) deleterious(0.04) deleterious(0.742) NULL C9orf125 84302 genome.wustl.edu 37 9 104238630 104238630 + Missense_Mutation SNP C C T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_032342.1 -1 provisional p.E249K 1.000 50 0% 64 42.2% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL ZNF462 58499 genome.wustl.edu 37 9 109690781 109690781 + Missense_Mutation SNP G G A novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_021224.4 +1 validated p.V1530I 1.000 57 0% 45 44.4% 0 - probably_damaging(0.968) deleterious(0) deleterious(0.855) HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers,superfamily_beta-sandwich domain of Sec23/24 PALM2-AKAP2 445815 genome.wustl.edu 37 9 112899875 112899875 + Missense_Mutation SNP G G A rs143055704 by1000genomes TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_007203.4 +1 validated p.G684E 0.835 112 0% 111 44.1% 1 0% probably_damaging(0.99) deleterious(0.02) deleterious(0.825) NULL PRPF4 9128 genome.wustl.edu 37 9 116053878 116053878 + Missense_Mutation SNP G G A novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_004697.3 +1 provisional p.D503N 0.996 118 0% 125 40% 29 37.9% possibly_damaging(0.447) tolerated(0.13) neutral(0.398) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 PHF19 26147 genome.wustl.edu 37 9 123629233 123629233 + Missense_Mutation SNP G G A novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_015651.1 -1 validated p.R209W 1.000 33 0% 36 41.7% 4 0% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMSmart_SM00249,superfamily_FYVE/PHD zinc finger,PatternScan_ZF_PHD_1,HMMPfam_PHD SLC2A8 29988 genome.wustl.edu 37 9 130166034 130166034 + Silent SNP C C T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 ENST00000419132 +1 known p.T157M 0.801 91 0% 76 46.1% 20 40% - - - NULL FUBP3 8939 genome.wustl.edu 37 9 133491782 133491782 + Nonsense_Mutation SNP C C T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_003934.1 +1 validated p.R149* 1.000 146 0% 146 47.3% 13 0% - - - superfamily_Eukaryotic type KH-domain (KH-domain type I) FAM69B 138311 genome.wustl.edu 37 9 139617828 139617828 + Silent SNP C C T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_152421.3 +1 validated p.L300 0.482 29 0% 25 48% 38 68.4% - - - NULL ZNF22 7570 genome.wustl.edu 37 10 45498918 45498918 + Silent SNP C C T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_006963.4 +1 validated p.G34 0.471 84 0% 93 28% 14 14.2% - - - NULL CHAT 1103 genome.wustl.edu 37 10 50854705 50854705 + Silent SNP C C T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_020549.4 +1 reviewed p.Y422 0.841 34 0% 33 42.4% 0 - - - - HMMPfam_Carn_acyltransf,PatternScan_ACYLTRANSF_C_2,superfamily_CoA-dependent acyltransferases EGR2 1959 genome.wustl.edu 37 10 64575710 64575710 + Missense_Mutation SNP G G A novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_000399.3 -1 reviewed p.P27L 1.000 158 0% 167 40.1% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL CCAR1 55749 genome.wustl.edu 37 10 70547774 70547774 + Nonsense_Mutation SNP G G T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_018237.2 +1 validated p.E991* 0.997 195 0% 225 48% 66 13.6% - - - NULL AP3M1 26985 genome.wustl.edu 37 10 75893908 75893908 + Missense_Mutation SNP C C T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_012095.4 -1 reviewed p.G154R 1.000 148 0% 151 37.7% 12 33.3% possibly_damaging(0.757) deleterious(0.02) deleterious(0.663) NULL PTEN 5728 genome.wustl.edu 37 10 89717672 89717672 + Nonsense_Mutation SNP C C T rs121909219 byCluster TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 ENST00000371953 +1 known p.R233* 0.984 226 0% 239 87.9% 18 61.1% - - - superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_PTEN_C2 PPP1R3C 5507 genome.wustl.edu 37 10 93390251 93390251 + Silent SNP G G A novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_005398.4 -1 provisional p.H129 0.302 119 0% 142 16.2% 0 - - - - NULL TBC1D12 23232 genome.wustl.edu 37 10 96292805 96292805 + Missense_Mutation SNP G G T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_015188.1 +1 validated p.K760N 1.000 302 0% 205 43.4% 2 100% probably_damaging(0.994) deleterious(0) deleterious(0.897) NULL FGF8 2253 genome.wustl.edu 37 10 103534517 103534517 + Missense_Mutation SNP G G T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_033163.2 -1 reviewed p.N103K 1.000 84 0% 91 41.8% 0 - possibly_damaging(0.862) deleterious(0.01) deleterious(0.739) HMMPfam_FGF,HMMSmart_FGF,superfamily_Cytok_IL1_like WDR96 80217 genome.wustl.edu 37 10 105905300 105905300 + Missense_Mutation SNP T T C novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_025145.5 -1 provisional p.K1293R 1.000 157 0% 194 41.8% 36 44.4% possibly_damaging(0.948) tolerated(0.08) deleterious(0.691) superfamily_WD40 repeat-like CHST15 51363 genome.wustl.edu 37 10 125780753 125780755 + In_Frame_Del DEL GGG GGG - rs5788647 TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 GGG GGG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 ENST00000421115 -1 known p.P455in_frame_del 0.985:0.982:0.979 - - - - - - - - - NULL ZNF511 118472 genome.wustl.edu 37 10 135125300 135125300 + Missense_Mutation SNP C C T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_145806.2 +1 provisional p.A212V 0.000 39 0% 42 47.6% 44 45.4% benign(0) tolerated(1) - NULL TRIM68 55128 genome.wustl.edu 37 11 4621922 4621922 + Silent SNP G G A novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_018073.5 -1 reviewed p.L348 1.000 158 0% 158 46.8% 8 37.5% - - - HMMSmart_PRY OR51B6 390058 genome.wustl.edu 37 11 5373352 5373352 + Silent SNP C C T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_001004750.1 +1 provisional p.V205 0.000 526 0% 507 39.3% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 OR2AG1 144125 genome.wustl.edu 37 11 6806486 6806486 + Missense_Mutation SNP T T C novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_001004489.2 +1 validated p.F73S 0.969 230 0% 254 44.1% 0 - possibly_damaging(0.594) deleterious(0.02) deleterious(0.588) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like TMEM86A 144110 genome.wustl.edu 37 11 18723399 18723399 + Nonsense_Mutation SNP C C A novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_153347.1 +1 provisional p.S189* 1.000 190 0% 167 45.5% 4 50% - - - HMMPfam_YhhN EIF3M 10480 genome.wustl.edu 37 11 32611116 32611116 + Missense_Mutation SNP G G T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_006360.3 +1 provisional p.W154C 1.000 450 0% 326 42.6% 211 42.1% benign(0.293) tolerated(0.7) neutral(0.092) NULL HSD17B12 51144 genome.wustl.edu 37 11 43861580 43861580 + Missense_Mutation SNP A A G novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_016142.2 +1 validated p.H217R 1.000 1198 0% 994 43% 43 27.9% benign(0.039) tolerated(0.45) neutral(0.014) HMMPfam_adh_short,PatternScan_ADH_SHORT,superfamily_NAD(P)-binding Rossmann-fold domains CRY2 1408 genome.wustl.edu 37 11 45869075 45869075 + Missense_Mutation SNP G G A novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_021117.3 +1 validated p.A33T 0.158 15 0% 10 50% 0 - unknown(0) tolerated(0.34) - NULL ATG13 9776 genome.wustl.edu 37 11 46691065 46691065 + Missense_Mutation SNP T T C novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_001142673.1 +1 validated p.S487P 1.000 155 0% 162 42% 36 44.4% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_DUF2224 MADD 8567 genome.wustl.edu 37 11 47317528 47317528 + Silent SNP C C T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_003682.3 +1 reviewed p.G1227 0.572 199 0% 189 41.3% 16 43.7% - - - NULL VWCE 220001 genome.wustl.edu 37 11 61026349 61026349 + Missense_Mutation SNP G G T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_152718.2 -1 validated p.P889H 0.008 73 0% 105 11.4% 0 - benign(0) deleterious(0.02) neutral(0.383) NULL FOSL1 8061 genome.wustl.edu 37 11 65664342 65664342 + Missense_Mutation SNP G G A novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_005438.3 -1 reviewed p.R79W 0.810 85 0% 98 54.1% 2 50% probably_damaging(1) deleterious(0) deleterious(0.945) NULL RBM4B 83759 genome.wustl.edu 37 11 66436693 66436693 + Missense_Mutation SNP C C T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_031492.2 -1 provisional p.G161D 1.000 96 0% 96 45.8% 19 47.3% possibly_damaging(0.595) tolerated(0.18) neutral(0.262) HMMPfam_zf-CCHC,HMMSmart_SM00343,superfamily_RNA-binding domain RBD GSTP1 2950 genome.wustl.edu 37 11 67353976 67353976 + Silent SNP G G C novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 ENST00000398606 +1 known p.R187 0.735 80 0% 66 28.8% 2151 51% - - - HMMPfam_GST_C,superfamily_GST_C_like CTTN 2017 genome.wustl.edu 37 11 70263163 70263163 + Nonsense_Mutation SNP C C T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_005231.3 +1 reviewed p.R168* 1.000 119 0% 96 44.8% 53 5.6% - - - HMMPfam_HS1_rep LRTOMT 220074 genome.wustl.edu 37 11 71819808 71819808 + Missense_Mutation SNP C C T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_001145308.1 +1 validated p.A238V 1.000 51 0% 33 48.5% 1 0% probably_damaging(0.954) deleterious(0.03) deleterious(0.762) superfamily_S-adenosyl-L-methionine-dependent methyltransferases DGAT2 84649 genome.wustl.edu 37 11 75509447 75509447 + Missense_Mutation SNP C C T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_032564.3 +1 validated p.P329S 1.000 48 0% 43 39.5% 12 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_DAGAT DSCAML1 57453 genome.wustl.edu 37 11 117299166 117299166 + Missense_Mutation SNP C C T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_020693.2 -1 provisional p.G2074R 1.000 7 0.000 6 0.667 0 - benign(0.002) deleterious(0.04) neutral(0.349) NULL NFRKB 4798 genome.wustl.edu 37 11 129742893 129742893 + Silent SNP A A G novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_006165.3 -1 validated p.P908 1.000 51 0% 59 39% 7 28.5% - - - NULL NFRKB 4798 genome.wustl.edu 37 11 129743892 129743892 + Silent SNP T T C novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_006165.3 -1 validated p.S791 0.147 118 0% 131 42.7% 12 41.6% - - - NULL CACNA2D4 93589 genome.wustl.edu 37 12 2022212 2022212 + Missense_Mutation SNP G G A novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_172364.4 -1 reviewed p.R135W 0.715 267 0% 247 45.3% 0 - probably_damaging(0.997) deleterious(0.01) deleterious(0.872) NULL DUSP16 80824 genome.wustl.edu 37 12 12630318 12630318 + Nonsense_Mutation SNP G G A novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_030640.2 -1 reviewed p.R483* 0.000 104 0% 116 45.7% 20 45% - - - NULL GRIN2B 2904 genome.wustl.edu 37 12 13768202 13768202 + Splice_Site SNP C C A novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_000834.3 -1 reviewed e6-1 1.000 122 0% 138 37% 0 - - - - - KRAS 3845 genome.wustl.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C T rs121913529 byCluster TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_033360.2 -1 reviewed p.G12D 1.000 334 0% 312 43.9% 2 100% possibly_damaging(0.886) deleterious(0) deleterious(0.791) HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases MLL2 8085 genome.wustl.edu 37 12 49446070 49446070 + Missense_Mutation SNP G G A novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_003482.3 -1 validated p.R466C 0.014 330 0% 254 44.9% 5 60% unknown(0) - - NULL FMNL3 91010 genome.wustl.edu 37 12 50052241 50052241 + Missense_Mutation SNP G G A novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_175736.4 -1 validated p.R197C 1.000 53 0% 81 48.1% 1 0% probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_Drf_GBD TMPRSS12 283471 genome.wustl.edu 37 12 51237683 51237683 + Silent SNP C C T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_182559.2 +1 validated p.T82 0.000 160 0% 152 47.4% 0 - - - - HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases KRT85 3891 genome.wustl.edu 37 12 52760856 52760856 + Missense_Mutation SNP T T C novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_002283.3 -1 reviewed p.I112V 1.000 271 0% 222 41.4% 0 - benign(0.076) tolerated(0.25) neutral(0.042) NULL SOAT2 8435 genome.wustl.edu 37 12 53509369 53509369 + Silent SNP G G A novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_003578.3 +1 reviewed p.A213 0.000 16 0% 19 47.4% 0 - - - - HMMPfam_MBOAT ERBB3 2065 genome.wustl.edu 37 12 56494022 56494022 + Missense_Mutation SNP C C T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_001982.2 +1 reviewed p.S1065F 0.000 482 0% 468 43.4% 25 48% benign(0.029) tolerated(0.09) neutral(0.298) NULL STAT2 6773 genome.wustl.edu 37 12 56749234 56749234 + Missense_Mutation SNP A A G novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_005419.3 -1 reviewed p.M155T 0.601 232 0% 214 43% 9 33.3% benign(0.002) tolerated(0.59) neutral(0.004) HMMPfam_STAT_alpha,superfamily_STAT LRP1 4035 genome.wustl.edu 37 12 57567739 57567739 + Missense_Mutation SNP G G A novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_002332.2 +1 reviewed p.G1175S 1.000 104 0% 85 47.1% 1 100% possibly_damaging(0.675) deleterious(0.02) deleterious(0.623) HMMPfam_Ldl_recept_a,HMMSmart_SM00192,PatternScan_LDLRA_1,superfamily_LDL receptor-like module PTPRB 5787 genome.wustl.edu 37 12 70970310 70970310 + Silent SNP A A G novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_001109754.1 -1 reviewed p.H898 0.008 113 0% 96 41.7% 0 - - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III PPP1R12A 4659 genome.wustl.edu 37 12 80190656 80190656 + Missense_Mutation SNP A A C novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_001143885.1 -1 reviewed p.S789R 0.999 362 0% 311 46% 8 37.5% probably_damaging(1) tolerated(0.08) deleterious(0.800) NULL LIN7A 8825 genome.wustl.edu 37 12 81283079 81283079 + Missense_Mutation SNP T T C novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_004664.2 -1 validated p.Q51R 1.000 411 0% 411 42.6% 0 - possibly_damaging(0.722) deleterious(0.05) deleterious(0.607) HMMSmart_SM00569,HMMPfam_L27 TMPO 7112 genome.wustl.edu 37 12 98927726 98927726 + Missense_Mutation SNP A A G rs34406338 TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_003276.2 +1 reviewed p.Q564R 0.958 71 0% 76 46.1% 19 52.6% benign(0.067) deleterious(0.04) neutral(0.353) NULL KL 9365 genome.wustl.edu 37 13 33635027 33635027 + Missense_Mutation SNP C C A novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_004795.3 +1 reviewed p.P604H 1.000 111 0% 119 42% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_(Trans)glycosidases FAM48A 55578 genome.wustl.edu 37 13 37622055 37622055 + Nonsense_Mutation SNP G G A novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_001014286.2 -1 validated p.R20* 0.999 390 0% 336 41.1% 14 28.5% - - - NULL ITM2B 9445 genome.wustl.edu 37 13 48830407 48830407 + Missense_Mutation SNP C C T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_021999.4 +1 reviewed p.T114I 1.000 135 0% 165 39.4% 550 39.4% benign(0.124) tolerated(0.16) neutral(0.069) NULL KLF5 688 genome.wustl.edu 37 13 73636518 73636518 + Missense_Mutation SNP G G A novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_001730.3 +1 reviewed p.A261T 1.000 124 0% 135 45.2% 34 32.3% benign(0.129) tolerated(0.09) neutral(0.307) NULL LOC643677 643677 genome.wustl.edu 37 13 103395416 103395416 + Missense_Mutation SNP C C T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 XM_002344085.1 -1 model p.G2473D 0.000 178 0% 164 47% 0 - - - - NULL RAB20 55647 genome.wustl.edu 37 13 111176303 111176303 + Silent SNP C C T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_017817.1 -1 provisional p.G138 0.000 48 0% 59 25.4% 28 28.5% - - - HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases SALL2 6297 genome.wustl.edu 37 14 21991633 21991633 + Silent SNP G G A rs190385056 by1000genomes TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_005407.1 -1 validated p.S743 0.000 60 0% 63 50.8% 2 0% - - - NULL MYH6 4624 genome.wustl.edu 37 14 23853909 23853909 + Missense_Mutation SNP C C A novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_002471.3 -1 validated p.E1769D 1.000 149 0% 144 43.1% 0 - probably_damaging(0.992) tolerated(0.33) deleterious(0.472) HMMPfam_Myosin_tail_1 FOXG1 2290 genome.wustl.edu 37 14 29237780 29237780 + Frame_Shift_Del DEL C C - novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_005249.3 +1 reviewed p.T432fs 0.999 - - - - - - - - - NULL AKAP6 9472 genome.wustl.edu 37 14 33291067 33291067 + Missense_Mutation SNP G G A novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_004274.4 +1 reviewed p.A1350T 0.000 98 0% 79 46.8% 2 50% benign(0) deleterious(0.02) neutral(0.383) NULL KLHL28 54813 genome.wustl.edu 37 14 45403545 45403545 + Missense_Mutation SNP C C T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_017658.3 -1 validated p.M372I 1.000 297 0% 260 44.6% 5 60% probably_damaging(0.99) deleterious(0.01) deleterious(0.847) HMMPfam_Kelch_1,HMMSmart_SM00612,superfamily_Galactose oxidase central domain CEP128 145508 genome.wustl.edu 37 14 81259399 81259399 + Missense_Mutation SNP C C T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_152446.3 -1 validated p.R422Q 0.996 296 0% 271 37.3% 9 44.4% probably_damaging(0.963) tolerated(1) neutral(0.406) NULL ENSG00000216173 0 genome.wustl.edu 37 14 99828701 99828701 + RNA SNP A A T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 ENST00000401354 +1 novel NULL 0.000 95 1.1% 77 48.1% 0 - - - - - AHNAK2 113146 genome.wustl.edu 37 14 105406373 105406373 + Missense_Mutation SNP C C T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_138420.2 -1 validated p.G5139R 0.000 49 0% 60 31.7% 3 33.3% possibly_damaging(0.904) tolerated(0.13) deleterious(0.611) NULL HERC2 8924 genome.wustl.edu 37 15 28502228 28502228 + Silent SNP C C T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_004667.4 -1 reviewed p.T832 0.230 128 0% 90 38.9% 0 - - - - NULL ENSG00000221138 0 genome.wustl.edu 37 15 33256249 33256249 + RNA SNP C C T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 ENST00000408211 -1 novel NULL 0.013 188 0.5% 171 24% 0 - - - - - GJD2 57369 genome.wustl.edu 37 15 35045218 35045218 + Missense_Mutation SNP T T C novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_020660.1 -1 provisional p.K143E 1.000 73 0% 81 42% 0 - benign(0.01) tolerated(0.31) neutral(0.028) NULL THBS1 7057 genome.wustl.edu 37 15 39881287 39881287 + Missense_Mutation SNP G G A novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 ENST00000397593 +1 known p.S25N 1.000 232 0% 246 43.1% 13 15.3% unknown(0) - - NULL C15orf52 388115 genome.wustl.edu 37 15 40629609 40629609 + Missense_Mutation SNP G G A novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_207380.2 -1 validated p.A285V 0.009 166 0% 153 43.1% 0 - probably_damaging(0.991) deleterious(0.01) deleterious(0.850) NULL DNAJC17 55192 genome.wustl.edu 37 15 41067243 41067243 + Missense_Mutation SNP G G A novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_018163.2 -1 validated p.R196W 0.136 205 0% 178 57.9% 41 46.3% probably_damaging(0.996) deleterious(0) deleterious(0.906) superfamily_SSF54928 TYRO3 7301 genome.wustl.edu 37 15 41863264 41863264 + Silent SNP G G A novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_006293.3 +1 reviewed p.Q536 0.998 359 0% 347 47.8% 3 0% - - - HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP TTBK2 146057 genome.wustl.edu 37 15 43067596 43067596 + Frame_Shift_Del DEL A A - novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_173500.3 -1 reviewed p.S579fs 1.000 - - - - - - - - - NULL MNS1 55329 genome.wustl.edu 37 15 56735642 56735642 + Nonsense_Mutation SNP T T A novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_018365.2 -1 reviewed p.K333* 0.000 623 0% 457 42.5% 21 0% - - - NULL TLN2 83660 genome.wustl.edu 37 15 62967479 62967479 + Missense_Mutation SNP C C T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_015059.2 +1 reviewed p.R306W 0.979 216 0.5% 161 46% 4 75% probably_damaging(1) deleterious(0) deleterious(0.945) PatternScan_FERM_2,HMMPfam_FERM_M,superfamily_FERM_3-hlx,HMMSmart_B41 DAPK2 23604 genome.wustl.edu 37 15 64218226 64218226 + Silent SNP C C T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_014326.3 -1 reviewed p.V242 1.000 197 0% 178 45.5% 16 56.2% - - - HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase HEXA 3073 genome.wustl.edu 37 15 72647903 72647903 + Missense_Mutation SNP G G C rs121907962 TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_000520.4 -1 reviewed p.R137G 0.998 207 0% 212 42.5% 86 53.4% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Glyco_hydro_20b,superfamily_beta-N-acetylhexosaminidase-like domain GOLGA6B 55889 genome.wustl.edu 37 15 72958134 72958134 + Missense_Mutation SNP A A G novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_018652.4 +1 reviewed p.T570A 0.997 711 0% 770 8.3% 0 - benign(0.388) tolerated(1) neutral(0.124) NULL C15orf42 90381 genome.wustl.edu 37 15 90167181 90167181 + Missense_Mutation SNP C C T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_152259.3 +1 validated p.H1214Y 0.106 65 0% 59 44.1% 4 0% benign(0.372) tolerated(0.14) neutral(0.368) NULL KIF7 374654 genome.wustl.edu 37 15 90193017 90193017 + Missense_Mutation SNP C C T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_198525.2 -1 validated p.A162T 0.995 91 0% 89 41.6% 0 - probably_damaging(0.98) tolerated(0.22) neutral(0.466) HMMPfam_Kinesin,HMMSmart_KISc,superfamily_SSF52540 ANPEP 290 genome.wustl.edu 37 15 90344733 90344733 + Missense_Mutation SNP C C A novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_001150.2 -1 reviewed p.G559W 0.997 156 0% 175 47.4% 10 70% probably_damaging(1) tolerated(0.05) deleterious(0.845) NULL IQGAP1 8826 genome.wustl.edu 37 15 91030271 91030271 + Silent SNP C C T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_003870.3 +1 reviewed p.D1370 0.949 165 0% 168 47% 67 41.7% - - - NULL LRRK1 79705 genome.wustl.edu 37 15 101567917 101567917 + Silent SNP G G A novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_024652.3 +1 validated p.V867 0.972 38 0% 24 50% 2 0% - - - NULL CREBBP 1387 genome.wustl.edu 37 16 3789648 3789648 + Missense_Mutation SNP C C A novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_004380.2 -1 reviewed p.G1404V 1.000 158 0% 122 44.3% 14 35.7% unknown(0) deleterious(0) - HMMPfam_DUF906 LOC342346 342346 genome.wustl.edu 37 16 4644725 4644725 + Silent SNP C C T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_001145011.1 +1 predicted p.G1016 0.974 30 0% 39 48.7% 0 - - - - NULL ANKS3 124401 genome.wustl.edu 37 16 4748887 4748887 + Missense_Mutation SNP C C T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_133450.2 -1 provisional p.A489T 1.000 18 0% 28 39.3% 12 33.3% possibly_damaging(0.594) tolerated(0.15) neutral(0.446) superfamily_SAM_homology CLEC16A 23274 genome.wustl.edu 37 16 11114095 11114095 + Missense_Mutation SNP C C T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_015226.2 +1 validated p.A450V 0.717 37 0% 26 38.5% 2 100% benign(0.001) tolerated(0.22) neutral(0.042) NULL EEF2K 29904 genome.wustl.edu 37 16 22256035 22256035 + Missense_Mutation SNP C C T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_013302.3 +1 reviewed p.R111C 0.023 125 0% 114 38.6% 7 28.5% benign(0.005) tolerated(0.15) neutral(0.241) superfamily_Kinase_like USP31 57478 genome.wustl.edu 37 16 23080434 23080434 + Missense_Mutation SNP C C T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_020718.3 -1 validated p.V998I 0.951 268 0% 234 49.6% 0 - possibly_damaging(0.946) deleterious(0.05) deleterious(0.736) NULL PRKCB 5579 genome.wustl.edu 37 16 24046789 24046789 + Silent SNP G G A novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_002738.6 +1 reviewed p.L150 0.964 51 0% 36 41.7% 1 0% - - - HMMPfam_C1_1,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,superfamily_Cysteine-rich domain IL4R 3566 genome.wustl.edu 37 16 27375004 27375004 + Silent SNP G G A novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_000418.2 +1 reviewed p.P777 0.000 50 0% 54 46.3% 5 20% - - - NULL ZNF48 197407 genome.wustl.edu 37 16 30409518 30409518 + Missense_Mutation SNP C C T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_152652.1 +1 provisional p.S316F 0.395 94 0% 90 48.9% 12 33.3% probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF688 146542 genome.wustl.edu 37 16 30581442 30581442 + Missense_Mutation SNP C C T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_145271.3 -1 validated p.R209Q 1.000 22 0% 15 46.7% 33 42.4% probably_damaging(0.999) tolerated(0.24) deleterious(0.528) superfamily_C2H2 and C2HC zinc fingers SETD1A 9739 genome.wustl.edu 37 16 30995246 30995246 + Missense_Mutation SNP G G A novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_014712.1 +1 provisional p.V1676M 1.000 96 0% 54 37% 54 40.7% unknown(0) - - HMMPfam_SET,HMMSmart_SET,superfamily_SSF82199 ITGAX 3687 genome.wustl.edu 37 16 31384645 31384645 + Silent SNP C C A novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_000887.3 +1 reviewed p.S814 1.000 92 0% 81 35.8% 14 0% - - - HMMPfam_Integrin_alpha2,superfamily_SSF69179 MYLK3 91807 genome.wustl.edu 37 16 46741651 46741651 + Missense_Mutation SNP C C T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_182493.2 -1 validated p.A809T 1.000 260 0% 241 39% 4 0% possibly_damaging(0.776) tolerated(0.19) neutral(0.339) NULL CETP 1071 genome.wustl.edu 37 16 57017280 57017280 + Missense_Mutation SNP T T C novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_000078.2 +1 reviewed p.V455A 1.000 143 0% 123 39% 6 0% benign(0.012) deleterious(0.02) neutral(0.384) HMMPfam_LBP_BPI_CETP_C,HMMSmart_SM00329,superfamily_Bactericidal permeability-increasing protein BPI DYNC1LI2 1783 genome.wustl.edu 37 16 66768206 66768206 + Silent SNP C C T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_006141.2 -1 validated p.A236 0.764 128 0% 117 44.4% 23 52.1% - - - HMMPfam_DLIC,superfamily_P-loop containing nucleoside triphosphate hydrolases WWP2 11060 genome.wustl.edu 37 16 69971461 69971461 + Missense_Mutation SNP G G T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_007014.3 +1 reviewed p.C750F 1.000 50 0% 60 53.3% 26 34.6% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_HECT,HMMSmart_HECTc,superfamily_HECT CHST6 4166 genome.wustl.edu 37 16 75513474 75513474 + Missense_Mutation SNP C C T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_021615.4 -1 reviewed p.A85T 0.857 14 0% 11 36.4% 13 38.4% probably_damaging(0.985) deleterious(0) deleterious(0.877) HMMPfam_Sulfotransfer_1,superfamily_SSF52540 WWOX 51741 genome.wustl.edu 37 16 78420792 78420792 + Silent SNP C C T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_016373.1 +1 reviewed p.L184 0.927 190 0% 218 42.7% 3 66.6% - - - HMMPfam_adh_short,superfamily_NAD(P)-binding Rossmann-fold domains MVD 4597 genome.wustl.edu 37 16 88722097 88722097 + Missense_Mutation SNP C C T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_002461.1 -1 reviewed p.M215I 1.000 27 0% 29 20.7% 37 51.3% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF55060 ANKRD11 29123 genome.wustl.edu 37 16 89352480 89352480 + Missense_Mutation SNP C C A novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_013275.4 -1 validated p.G287C 1.000 82 0% 89 36% 13 53.8% probably_damaging(1) tolerated(0.16) deleterious(0.559) superfamily_Ankyrin repeat SPG7 6687 genome.wustl.edu 37 16 89592801 89592801 + Missense_Mutation SNP C C T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_003119.2 +1 reviewed p.A228V 0.999 281 0% 237 43.9% 32 53.1% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_FtsH_ext ASPA 443 genome.wustl.edu 37 17 3386871 3386871 + Missense_Mutation SNP G G T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_000049.2 +1 reviewed p.A171S 1.000 350 0% 327 39.4% 0 - possibly_damaging(0.837) tolerated(0.4) neutral(0.336) HMMPfam_AstE_AspA SLC16A11 162515 genome.wustl.edu 37 17 6945716 6945717 + Frame_Shift_Ins INS - - A novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_153357.1 -1 validated p.Y262fs 0.979:0.981 - - - - - - - - - HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter YBX2 51087 genome.wustl.edu 37 17 7193824 7193824 + Missense_Mutation SNP C C A novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_015982.3 -1 validated p.G164W 0.995 18 0% 17 58.8% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_Nucleic_acid_OB MYH3 4621 genome.wustl.edu 37 17 10545571 10545571 + Missense_Mutation SNP A A C novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_002470.2 -1 reviewed p.S649A 1.000 187 0% 149 36.9% 1 0% possibly_damaging(0.729) deleterious(0.02) deleterious(0.649) HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540 HS3ST3A1 9955 genome.wustl.edu 37 17 13399926 13399926 + Missense_Mutation SNP G G A novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_006042.1 -1 reviewed p.T270M 1.000 79 0% 94 25.5% 2 0% possibly_damaging(0.797) deleterious(0.03) deleterious(0.664) HMMPfam_Sulfotransfer_1,superfamily_P-loop containing nucleoside triphosphate hydrolases HS3ST3B1 9953 genome.wustl.edu 37 17 14248554 14248554 + Missense_Mutation SNP C C T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_006041.1 +1 reviewed p.T255M 1.000 48 0% 67 23.9% 2 0% possibly_damaging(0.797) deleterious(0.02) deleterious(0.682) HMMPfam_Sulfotransfer_1,superfamily_P-loop containing nucleoside triphosphate hydrolases LLGL1 3996 genome.wustl.edu 37 17 18145300 18145300 + Missense_Mutation SNP G G A novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_004140.3 +1 reviewed p.A957T 0.000 70 1.4% 64 43.8% 21 57.1% benign(0) tolerated(0.6) neutral(0.004) NULL MYO18A 399687 genome.wustl.edu 37 17 27493916 27493916 + Missense_Mutation SNP G G A novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_078471.3 -1 validated p.R15W 0.969 188 0% 148 44.6% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL CPD 1362 genome.wustl.edu 37 17 28766007 28766007 + Missense_Mutation SNP G G C novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_001304.3 +1 reviewed p.M714I 1.000 175 0% 140 35% 7 57.1% probably_damaging(0.993) deleterious(0.01) deleterious(0.856) HMMPfam_Peptidase_M14,HMMSmart_Zn_pept,superfamily_SSF53187 RAB11FIP4 84440 genome.wustl.edu 37 17 29850544 29850544 + Missense_Mutation SNP G G A novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_032932.3 +1 validated p.S315N 1.000 132 0% 144 33.3% 16 50% benign(0) tolerated(0.68) neutral(0.002) NULL ENSG00000226049 0 genome.wustl.edu 37 17 32364844 32364844 + Silent SNP C C T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 ENST00000430493 -1 known p.P625 1.000 245 0.4% 288 42.4% 4 0% - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase KRT27 342574 genome.wustl.edu 37 17 38938537 38938537 + Missense_Mutation SNP G G A novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_181537.3 -1 reviewed p.A70V 0.000 124 0% 140 51.4% 0 - benign(0) tolerated(0.75) neutral(0.002) NULL KRTAP4-6 81871 genome.wustl.edu 37 17 39296318 39296318 + Missense_Mutation SNP C C T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 ENST00000345847 -1 known p.R141H 0.008 129 0.8% 119 22.7% 0 - unknown(0) deleterious(0.03) - HMMPfam_Keratin_B2 KRT37 8688 genome.wustl.edu 37 17 39578397 39578397 + Missense_Mutation SNP C C T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_003770.4 -1 reviewed p.C315Y 0.974 96 0% 110 41.8% 0 - probably_damaging(1) deleterious(0.03) deleterious(0.865) HMMPfam_Filament KLHL10 317719 genome.wustl.edu 37 17 40004386 40004386 + Missense_Mutation SNP G G A novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_152467.3 +1 validated p.D552N 0.832 247 0% 261 44.1% 0 - benign(0.089) tolerated(1) neutral(0.006) HMMPfam_Kelch_1,HMMSmart_Kelch,superfamily_Gal_oxid_central IGF2BP1 10642 genome.wustl.edu 37 17 47121355 47121355 + Missense_Mutation SNP G G T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_006546.3 +1 reviewed p.Q409H 1.000 104 0% 98 40.8% 0 - benign(0.002) tolerated(0.58) neutral(0.005) HMMSmart_SM00322,HMMPfam_KH_1,superfamily_Eukaryotic type KH-domain (KH-domain type I) RSAD1 55316 genome.wustl.edu 37 17 48559701 48559701 + Missense_Mutation SNP C C T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_018346.1 +1 provisional p.R242W 0.134 38 2.6% 31 41.9% 7 57.1% probably_damaging(0.985) deleterious(0.01) deleterious(0.838) HMMSmart_Elp3,superfamily_SSF102114 LOC100288505 100288505 genome.wustl.edu 37 17 48616369 48616369 + Splice_Site SNP C C G novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 XM_002343569.1 -1 model e7-1 0.998 20 0% 30 36.7% 0 - - - - - AXIN2 8313 genome.wustl.edu 37 17 63554353 63554353 + Missense_Mutation SNP C C A novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_004655.3 -1 reviewed p.R129L 1.000 330 0% 333 45.9% 6 50% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_RGS,HMMSmart_SM00315,superfamily_Regulator of G-protein signaling RGS APOH 350 genome.wustl.edu 37 17 64210715 64210716 + Frame_Shift_Del DEL CT CT - novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 CT CT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_000042.2 -1 reviewed p.R279fs 0.990:0.992 - - - - - - - - - HMMPfam_Sushi_2,superfamily_Complement_control_module ABCA8 10351 genome.wustl.edu 37 17 66871498 66871499 + Frame_Shift_Ins INS - - T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_007168.2 -1 reviewed p.D1471fs 0.967:0.971 - - - - - - - - - superfamily_P-loop containing nucleoside triphosphate hydrolases CDC42EP4 23580 genome.wustl.edu 37 17 71282585 71282585 + Nonsense_Mutation SNP G G A novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_012121.4 -1 reviewed p.R19* 0.998 21 0% 21 42.9% 21 52.3% - - - NULL BTBD17 388419 genome.wustl.edu 37 17 72352855 72352855 + Missense_Mutation SNP G G T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_001080466.1 -1 provisional p.L460M 1.000 165 0% 111 45% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL GRIN2C 2905 genome.wustl.edu 37 17 72846813 72846813 + Missense_Mutation SNP G G T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_000835.3 -1 reviewed p.L403M 1.000 17 0% 34 44.1% 0 - benign(0.368) deleterious(0.01) deleterious(0.523) superfamily_Periplasmic binding protein-like II FADS6 283985 genome.wustl.edu 37 17 72889586 72889586 + Silent SNP G G A novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_178128.3 -1 validated p.D36 0.335 8 0.000 17 0.412 0 - - - - NULL DNAH17 8632 genome.wustl.edu 37 17 76567795 76567795 + Missense_Mutation SNP C C A novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 ENST00000389840 -1 known p.Q203H 1.000 102 0% 102 49% 0 - possibly_damaging(0.949) deleterious(0) deleterious(0.838) HMMPfam_DHC_N1 PYCR1 5831 genome.wustl.edu 37 17 79893235 79893235 + Missense_Mutation SNP A A G novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_006907.2 -1 reviewed p.V99A 1.000 48 0% 45 37.8% 132 57.5% probably_damaging(0.983) deleterious(0.01) deleterious(0.835) HMMPfam_F420_oxidored,superfamily_NAD(P)-binding Rossmann-fold domains ZNF750 79755 genome.wustl.edu 37 17 80789425 80789425 + Silent SNP G G A novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_024702.2 -1 reviewed p.Y302 0.003 293 0% 279 43.4% 9 33.3% - - - NULL ZFP161 7541 genome.wustl.edu 37 18 5291353 5291353 + Missense_Mutation SNP G G A novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_001143823.1 -1 validated p.T285M 1.000 158 0% 190 44.7% 11 45.4% probably_damaging(0.998) deleterious(0.04) deleterious(0.823) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 ZNF397 84307 genome.wustl.edu 37 18 32825965 32825965 + Silent SNP A A G novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_001135178.2 +1 reviewed p.K432 1.000 159 0% 160 45.6% 3 33.3% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF236 7776 genome.wustl.edu 37 18 74624253 74624253 + Silent SNP A A G novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_007345.3 +1 validated p.Q951 0.002 94 0% 94 47.9% 3 66.6% - - - NULL MBP 4155 genome.wustl.edu 37 18 74700437 74700437 + Missense_Mutation SNP C C T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 ENST00000397869 -1 known p.R122H 0.000 188 0% 180 51.7% 0 - unknown(0) deleterious(0.01) - HMMPfam_Myelin_MBP PIP5K1C 23396 genome.wustl.edu 37 19 3643358 3643358 + Missense_Mutation SNP C C T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_012398.1 -1 reviewed p.C511Y 1.000 156 0% 103 40.8% 13 61.5% possibly_damaging(0.952) deleterious(0.04) deleterious(0.744) NULL PLIN5 440503 genome.wustl.edu 37 19 4529195 4529195 + Missense_Mutation SNP C C T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_001013706.2 -1 validated p.R137Q 1.000 13 0% 17 47.1% 0 - probably_damaging(0.999) tolerated(0.3) deleterious(0.519) HMMPfam_Perilipin SAFB 6294 genome.wustl.edu 37 19 5667374 5667374 + Missense_Mutation SNP G G T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_002967.2 +1 reviewed p.G822W 1.000 70 0% 98 36.7% 70 50% unknown(0) deleterious(0) - NULL C19orf70 125988 genome.wustl.edu 37 19 5679374 5679374 + Missense_Mutation SNP G G T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_205767.1 -1 validated p.R81S 0.998 179 0% 187 40.1% 191 39.2% probably_damaging(0.993) tolerated(0.69) neutral(0.452) NULL MUC16 94025 genome.wustl.edu 37 19 9068021 9068021 + Silent SNP T T C novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_024690.2 -1 validated p.S6475 0.000 360 0.3% 380 35.5% 0 - - - - NULL ZNF699 374879 genome.wustl.edu 37 19 9408633 9408633 + Missense_Mutation SNP T T C novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_198535.1 -1 provisional p.Q70R 0.910 236 0% 184 51.1% 1 100% benign(0.004) tolerated(0.49) neutral(0.011) HMMSmart_KRAB,superfamily_Krueppel-associated_box ZNF812 729648 genome.wustl.edu 37 19 9800989 9800989 + Missense_Mutation SNP G G T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 XM_001726949.2 -1 model p.A324E 0.064 200 0% 134 32.1% 18 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers KEAP1 9817 genome.wustl.edu 37 19 10610218 10610218 + Silent SNP G G A novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_012289.3 -1 reviewed p.I164 0.710 73 0% 85 45.9% 51 50.9% - - - HMMSmart_BTB,superfamily_BTB/POZ_fold,HMMPfam_BTB CDKN2D 1032 genome.wustl.edu 37 19 10677762 10677762 + Missense_Mutation SNP A A G novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_001800.3 -1 reviewed p.L158P 0.997 35 0% 33 33.3% 15 33.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK SMARCA4 6597 genome.wustl.edu 37 19 11169489 11169489 + Missense_Mutation SNP G G A novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_001128849.1 +1 reviewed p.R1552H 1.000 61 0% 54 40.7% 410 44.3% probably_damaging(1) tolerated(0.21) deleterious(0.544) HMMPfam_Bromodomain,HMMSmart_BROMO,superfamily_Bromodomain,PatternScan_BROMODOMAIN_1 DOCK6 57572 genome.wustl.edu 37 19 11333750 11333750 + Silent SNP G G A novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_020812.2 -1 validated p.S996 1.000 31 0% 32 40.6% 7 57.1% - - - NULL ZNF653 115950 genome.wustl.edu 37 19 11597847 11597847 + Missense_Mutation SNP C C T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_138783.3 -1 validated p.S433N 0.822 62 0% 67 59.7% 15 60% possibly_damaging(0.807) deleterious(0.02) deleterious(0.687) NULL ANO8 57719 genome.wustl.edu 37 19 17436068 17436068 + Missense_Mutation SNP G G A novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_020959.2 -1 validated p.A930V 0.963 14 0% 11 36.4% 7 14.2% unknown(0) deleterious(0.03) - NULL ISYNA1 51477 genome.wustl.edu 37 19 18545801 18545801 + Silent SNP C C T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_016368.4 -1 validated p.P533 0.000 58 0% 64 45.3% 155 45.8% - - - NULL FFAR1 2864 genome.wustl.edu 37 19 35843061 35843061 + Missense_Mutation SNP G G A novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_005303.2 +1 reviewed p.V203M 0.998 36 0% 34 52.9% 0 - probably_damaging(0.996) tolerated(0.13) deleterious(0.714) HMMPfam_7tm_1,superfamily_SSF81321 C19orf47 126526 genome.wustl.edu 37 19 40832279 40832279 + Missense_Mutation SNP C C T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_178830.2 -1 predicted p.R155H 1.000 194 0% 146 46.6% 14 42.8% probably_damaging(0.994) deleterious(0.01) deleterious(0.858) NULL CYP2A6 1548 genome.wustl.edu 37 19 41350661 41350661 + Missense_Mutation SNP G G T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_000762.5 -1 reviewed p.P393H 0.996 251 0% 236 45.8% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_p450,superfamily_Cytochrome P450 DMPK 1760 genome.wustl.edu 37 19 46280959 46280959 + Missense_Mutation SNP G G A novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_001081563.1 -1 reviewed p.T293M 1.000 39 0% 46 34.8% 17 41.1% probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase DMWD 1762 genome.wustl.edu 37 19 46289926 46289926 + Silent SNP C C T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_004943.1 -1 validated p.P276 0.641 19 0% 30 56.7% 9 55.5% - - - HMMSmart_WD40,superfamily_WD40_like,HMMPfam_WD40 LMTK3 114783 genome.wustl.edu 37 19 49001749 49001749 + Silent SNP C C T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_001080434.1 -1 provisional p.T888 0.541 26 0% 19 42.1% 3 33.3% - - - HMMSmart_SM00220 FUT2 2524 genome.wustl.edu 37 19 49206444 49206444 + Silent SNP C C T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_000511.5 +1 reviewed p.G77 0.841 51 0% 59 50.8% 10 60% - - - HMMPfam_Glyco_transf_11 TRPM4 54795 genome.wustl.edu 37 19 49703643 49703643 + Missense_Mutation SNP C C T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_017636.2 +1 provisional p.T911M 1.000 118 0% 80 56.2% 117 57.2% probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Ion_trans LILRA2 11027 genome.wustl.edu 37 19 55086931 55086931 + Silent SNP C C A novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_001130917.1 +1 validated p.S288 0.003 88 0% 103 43.7% 0 - - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin PPP1R12C 54776 genome.wustl.edu 37 19 55624037 55624037 + Missense_Mutation SNP C C T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_017607.2 -1 provisional p.A150T 0.958 27 0% 34 44.1% 10 40% possibly_damaging(0.813) deleterious(0.03) deleterious(0.671) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat C20orf202 400831 genome.wustl.edu 37 20 1184201 1184201 + Missense_Mutation SNP G G C novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_001009612.2 +1 predicted p.S14T 0.052 123 0% 98 39.8% 0 - benign(0.227) - - NULL CPXM1 56265 genome.wustl.edu 37 20 2777926 2777926 + Silent SNP C C A novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_019609.4 -1 reviewed p.V248 1.000 111 0% 101 54.5% 19 0% - - - HMMPfam_F5_F8_type_C,HMMSmart_SM00231,superfamily_Galactose-binding domain-like XRN2 22803 genome.wustl.edu 37 20 21327149 21327149 + Silent SNP C C T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_012255.3 +1 reviewed p.Y542 0.595 364 0% 300 47% 37 37.8% - - - NULL WFDC2 10406 genome.wustl.edu 37 20 44098458 44098458 + Missense_Mutation SNP C C A novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_006103.3 +1 reviewed p.L13I 0.089 30 0% 22 40.9% 7629 49.2% possibly_damaging(0.93) tolerated(0.16) neutral(0.436) NULL BCAS1 8537 genome.wustl.edu 37 20 52644881 52644881 + Missense_Mutation SNP G G A novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 ENST00000411563 -1 known p.A161V 0.003 96 0% 112 51.8% 0 - unknown(0) - - NULL SLCO4A1 28231 genome.wustl.edu 37 20 61297807 61297807 + Missense_Mutation SNP G G A novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_016354.3 +1 validated p.G451D 0.990 128 0% 122 41.8% 2 50% unknown(0) tolerated(0.07) - HMMPfam_OATP,superfamily_MFS general substrate transporter LTN1 26046 genome.wustl.edu 37 21 30315604 30315604 + Missense_Mutation SNP A A T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_015565.2 -1 validated p.D1425E 1.000 185 0% 115 40% 6 33.3% benign(0.146) tolerated(1) neutral(0.013) NULL URB1 9875 genome.wustl.edu 37 21 33723030 33723030 + Missense_Mutation SNP C C A novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_014825.2 -1 validated p.V939L 0.986 29 0% 38 34.2% 9 77.7% possibly_damaging(0.527) tolerated(0.22) neutral(0.220) NULL RUNX1 861 genome.wustl.edu 37 21 36206817 36206817 + Missense_Mutation SNP C C A novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_001754.4 -1 reviewed p.R232L 1.000 184 0% 189 47.6% 14 35.7% probably_damaging(0.997) deleterious(0.04) deleterious(0.815) NULL CBS 875 genome.wustl.edu 37 21 44486442 44486442 + Missense_Mutation SNP C C T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_000071.2 -1 reviewed p.R121H 1.000 26 0% 40 32.5% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) PatternScan_CYS_SYNTHASE,HMMPfam_PALP,superfamily_Tryptophan synthase beta subunit-like PLP-dependent enzymes GGT1 2678 genome.wustl.edu 37 22 25019114 25019114 + Silent SNP T T C novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_001032364.2 +1 reviewed p.A258 0.265 46 0% 49 40.8% 30 66.6% - - - HMMPfam_G_glu_transpept MN1 4330 genome.wustl.edu 37 22 28193931 28193931 + Silent SNP G G A novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_002430.2 -1 reviewed p.G867 0.963 58 0% 58 48.3% 0 - - - - NULL FBXO7 25793 genome.wustl.edu 37 22 32889178 32889178 + Missense_Mutation SNP G G A novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_012179.3 +1 reviewed p.V352I 0.869 616 0.2% 586 46.6% 111 43.2% benign(0.001) tolerated(0.35) neutral(0.021) HMMPfam_F-box,HMMSmart_FBOX,superfamily_SSF81383 MYH9 4627 genome.wustl.edu 37 22 36702647 36702647 + Missense_Mutation SNP C C T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_002473.4 -1 reviewed p.R617H 1.000 36 0% 48 41.7% 111 35.1% benign(0.184) deleterious(0.01) neutral(0.423) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases TMPRSS6 164656 genome.wustl.edu 37 22 37462131 37462131 + Missense_Mutation SNP C C T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_153609.2 -1 reviewed p.V809M 1.000 55 0% 46 30.4% 0 - possibly_damaging(0.442) tolerated(0.06) neutral(0.467) superfamily_Trypsin-like serine proteases PHF21B 112885 genome.wustl.edu 37 22 45316294 45316294 + Missense_Mutation SNP G G A novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_138415.3 -1 validated p.A66V 1.000 33 0% 35 48.6% 0 - possibly_damaging(0.631) deleterious(0) deleterious(0.665) NULL BRD1 23774 genome.wustl.edu 37 22 50187832 50187832 + Missense_Mutation SNP G G A novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_014577.1 -1 reviewed p.R737W 0.124 70 0% 74 32.4% 19 21% probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL NCAPH2 29781 genome.wustl.edu 37 22 50956675 50956675 + Missense_Mutation SNP C C T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_152299.3 +1 reviewed p.A205V 0.000 56 0% 51 35.3% 46 54.3% benign(0) tolerated(0.36) neutral(0.020) HMMPfam_DUF1032 TLR7 51284 genome.wustl.edu 37 X 12906271 12906271 + Nonsense_Mutation SNP C C T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_016562.3 +1 reviewed p.Q882* 0.594 213 0% 187 38% 0 - - - - superfamily_Toll/Interleukin receptor TIR domain BEND2 139105 genome.wustl.edu 37 X 18183229 18183230 + Frame_Shift_Ins INS - - T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_153346.4 -1 validated p.R767fs 0.000:0.001 - - - - - - - - - NULL FAM47B 170062 genome.wustl.edu 37 X 34962542 34962542 + Missense_Mutation SNP C C T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_152631.2 +1 validated p.R532C 0.003 146 0% 153 49% 0 - benign(0.023) deleterious(0.01) neutral(0.407) NULL RPGR 6103 genome.wustl.edu 37 X 38145180 38145180 + Silent SNP C C T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_001034853.1 -1 reviewed p.E1024 0.000 151 0% 187 51.9% 0 - - - - NULL SSX9 280660 genome.wustl.edu 37 X 48163101 48163101 + Missense_Mutation SNP T T C novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 ENST00000376909 -1 known p.N73S 0.001 689 0% 576 42.5% 0 - benign(0.001) tolerated(0.3) neutral(0.029) HMMSmart_KRAB,superfamily_Krueppel-associated_box SHROOM4 57477 genome.wustl.edu 37 X 50376425 50376425 + Missense_Mutation SNP T T C novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_020717.3 -1 reviewed p.H883R 0.256 229 0% 250 50.4% 2 50% benign(0) tolerated(0.34) neutral(0.023) NULL FAAH2 158584 genome.wustl.edu 37 X 57313277 57313277 + Missense_Mutation SNP G G A novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_174912.3 +1 reviewed p.A7T 0.002 108 0% 136 47.1% 5 0% benign(0.001) tolerated(0.25) neutral(0.037) NULL MSN 4478 genome.wustl.edu 37 X 64959710 64959710 + Silent SNP G G A novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_002444.2 +1 reviewed p.R563 0.978 122 0% 116 53.4% 75 0% - - - superfamily_Moesin,HMMPfam_ERM IL2RG 3561 genome.wustl.edu 37 X 70329192 70329192 + Nonsense_Mutation SNP C C T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 ENST00000482750 -1 known p.W19* 0.898 163 0% 167 47.9% 43 0% benign(0.055) tolerated(0.57) neutral(0.009) PatternScan_HEMATOPO_REC_S_F1,superfamily_Fibronectin type III MED12 9968 genome.wustl.edu 37 X 70348505 70348505 + Missense_Mutation SNP C C T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_005120.2 +1 reviewed p.R1138W 1.000 255 0% 270 44.4% 14 92.8% probably_damaging(1) deleterious(0) deleterious(0.945) NULL TGIF2LX 90316 genome.wustl.edu 37 X 89177504 89177504 + Silent SNP G G T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_138960.3 +1 reviewed p.A140 0.000 112 0% 150 42.7% 0 - - - - NULL ARMCX2 9823 genome.wustl.edu 37 X 100911501 100911501 + Silent SNP G G A novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_014782.5 -1 reviewed p.T358 0.521 96 0% 138 44.2% 6 50% - - - superfamily_ARM-type_fold GPRASP2 114928 genome.wustl.edu 37 X 101971348 101971348 + Silent SNP C C T rs35846271 TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_001004051.2 +1 reviewed p.P517 0.279 60 0% 71 52.1% 1 100% - - - NULL NGFRAP1 27018 genome.wustl.edu 37 X 102632699 102632699 + Missense_Mutation SNP A A G novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_206915.1 +1 validated p.M94V 0.991 213 0% 201 44.3% 361 95.8% benign(0) tolerated(0.93) - HMMPfam_BEX CAPN6 827 genome.wustl.edu 37 X 110491215 110491215 + Missense_Mutation SNP A A G novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_014289.3 -1 reviewed p.L497P 1.000 158 0% 178 46.1% 78 0% probably_damaging(1) tolerated(0.06) deleterious(0.823) superfamily_Peptidase_C2,superfamily_C2_CaLB ZBTB33 10009 genome.wustl.edu 37 X 119388865 119388865 + Missense_Mutation SNP C C T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_006777.3 +1 reviewed p.P532L 1.000 114 0% 137 51.8% 8 0% probably_damaging(0.971) deleterious(0.04) deleterious(0.762) PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers SMARCA1 6594 genome.wustl.edu 37 X 128631828 128631829 + Frame_Shift_Ins INS - - T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_003069.3 -1 reviewed p.E499fs 1.000:1.000 - - - - - - - - - superfamily_P-loop containing nucleoside triphosphate hydrolases MBNL3 55796 genome.wustl.edu 37 X 131540408 131540408 + Nonsense_Mutation SNP G G A novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_018388.3 -1 reviewed p.R64* 0.860 255 0% 264 51.5% 2 100% - - - HMMPfam_zf-CCCH,HMMSmart_SM00356 FAM127A 8933 genome.wustl.edu 37 X 134166545 134166545 + Silent SNP C C T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_001078171.1 +1 validated p.I44 1.000 108 0% 92 37% 141 0% - - - NULL GPR50 9248 genome.wustl.edu 37 X 150349120 150349120 + Silent SNP T T C novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_004224.3 +1 reviewed p.C355 0.035 138 0% 138 37% 0 - - - - NULL FLNA 2316 genome.wustl.edu 37 X 153590879 153590879 + Silent SNP G G A novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_001110556.1 -1 reviewed p.F824 0.996 65 0% 44 38.6% 30 53.3% - - - HMMSmart_SM00557,superfamily_E set domains,HMMPfam_Filamin VBP1 7411 genome.wustl.edu 37 X 154444817 154444817 + Missense_Mutation SNP C C T novel TCGA-BG-A18B-01A-11D-A12J-09 TCGA-BG-A18B-10A-01D-A12J-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 84e51103-9d13-4d85-b262-89b17d81dd90 791a8f8e-fc74-4ba6-81c5-d9651fea5509 NM_003372.5 +1 reviewed p.R20W 0.860 100 0% 69 43.5% 28 0% probably_damaging(0.992) deleterious(0) deleterious(0.892) NULL