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 RPL22 6146 ucsc.edu 37 1 6257785 6257785 + Frame_Shift_Del DEL T - - novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_000983.3 -1 reviewed p.K15fs 1 - - - - - - - - - HMMPfam_Ribosomal_L22e ICMT 23463 genome.wustl.edu 37 1 6285228 6285228 + Missense_Mutation SNP A A T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_012405.3 -1 reviewed p.I256N 1.000 31 0% 99 37.4% - - probably_damaging(0.98) deleterious(0) deleterious(0.869) HMMPfam_ICMT CORT 1325 genome.wustl.edu 37 1 10510304 10510304 + Silent SNP G G C novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_001302.3 +1 reviewed p.L58 0.997 38 0% 55 30.9% - - - - - NULL UBR4 23352 genome.wustl.edu 37 1 19482763 19482763 + Splice_Site SNP A A G novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_020765.2 -1 validated e42+2 1.000 192 0% 255 37.6% - - - - - - EPHB2 2048 genome.wustl.edu 37 1 23235608 23235608 + Missense_Mutation SNP A A G novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_004442.6 +1 reviewed p.M817V 1.000 63 0% 127 40.2% - - probably_damaging(0.967) deleterious(0) deleterious(0.853) HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like LUZP1 7798 genome.wustl.edu 37 1 23419766 23419766 + Missense_Mutation SNP T T C novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_001142546.1 -1 reviewed p.Q330R 1.000 297 0% 364 44.5% - - benign(0.019) tolerated(0.79) neutral(0.002) NULL ARID1A 8289 genome.wustl.edu 37 1 27106369 27106369 + Frame_Shift_Del DEL G G - novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_006015.4 +1 reviewed p.V1994fs 1.000 - - - - - - - - - NULL RLF 6018 genome.wustl.edu 37 1 40705868 40705868 + Missense_Mutation SNP A A G novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_012421.3 +1 validated p.S1832G 1.000 101 0% 176 40.3% - - benign(0.002) tolerated(0.47) neutral(0.011) NULL HIVEP3 59269 genome.wustl.edu 37 1 42048587 42048587 + Missense_Mutation SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_024503.3 -1 validated p.L628F 0.991 171 0% 185 33.5% - - probably_damaging(0.999) tolerated(0.16) deleterious(0.550) NULL TMEM125 128218 genome.wustl.edu 37 1 43738576 43738576 + Silent SNP C C T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_144626.2 +1 validated p.S61 0.995 5 0.000 25 0.320 - - - - - NULL SLC5A9 200010 genome.wustl.edu 37 1 48699342 48699342 + Missense_Mutation SNP T T C novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_001135181.1 +1 validated p.V375A 1.000 69 0% 85 35.3% - - probably_damaging(0.994) tolerated(0.35) deleterious(0.473) HMMPfam_SSF INADL 10207 genome.wustl.edu 37 1 62330161 62330161 + Silent SNP C C A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_176877.2 +1 reviewed p.A897 0.000 204 0% 300 33% - - - - - NULL TGFBR3 7049 genome.wustl.edu 37 1 92182179 92182179 + Silent SNP C C T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_003243.3 -1 validated p.P551 0.317 548 0% 633 36.8% - - - - - HMMPfam_Zona_pellucida,HMMSmart_ZP ARHGAP29 9411 genome.wustl.edu 37 1 94652072 94652072 + Frame_Shift_Del DEL G G - novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_004815.3 -1 validated p.P588fs 1.000 - - - - - - - - - superfamily_Cysteine-rich domain SASS6 163786 genome.wustl.edu 37 1 100572937 100572937 + Missense_Mutation SNP T T A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_194292.1 -1 validated p.E440V 1.000 136 0% 84 38.1% - - probably_damaging(0.996) deleterious(0.02) deleterious(0.845) NULL COL11A1 1301 genome.wustl.edu 37 1 103345411 103345411 + Missense_Mutation SNP A A C novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_080629.2 -1 reviewed p.L1713R 1.000 85 0% 131 43.5% - - unknown(0) deleterious(0) - HMMPfam_COLFI,HMMSmart_COLFI CELSR2 1952 genome.wustl.edu 37 1 109808369 109808369 + Silent SNP C C A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_001408.2 +1 reviewed p.R1914 0.999 32 0% 50 44% - - - - - HMMSmart_TNFR CTTNBP2NL 55917 genome.wustl.edu 37 1 112999120 112999120 + Missense_Mutation SNP C C T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_018704.2 +1 validated p.P336S 0.010 344 0% 586 40.3% - - benign(0.167) deleterious(0) neutral(0.460) HMMPfam_CortBP2 PTGFRN 5738 genome.wustl.edu 37 1 117504011 117504011 + Missense_Mutation SNP C C T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_020440.2 +1 provisional p.R454C 0.988 386 0% 804 42.2% - - probably_damaging(0.99) deleterious(0.02) deleterious(0.825) HMMSmart_SM00406,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin FAM46C 54855 genome.wustl.edu 37 1 118166654 118166654 + Silent SNP G G T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_017709.3 +1 validated p.L388 1.000 42 0% 57 38.6% - - - - - NULL WDR3 10885 genome.wustl.edu 37 1 118482099 118482099 + Splice_Site SNP G G T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_006784.2 +1 reviewed e5-1 1.000 311 0% 291 34.7% - - - - - - ANKRD34A 284615 genome.wustl.edu 37 1 145474716 145474716 + Missense_Mutation SNP G G T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_001039888.2 +1 validated p.R463M 1.000 24 0% 33 33.3% - - probably_damaging(0.954) deleterious(0) deleterious(0.842) NULL MTMR11 10903 genome.wustl.edu 37 1 149907556 149907556 + Missense_Mutation SNP A A G novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 ENST00000439741 -1 known p.L62P 1.000 109 0% 157 19.1% - - benign(0.001) tolerated(0.13) neutral(0.253) superfamily_PH domain-like ADAMTSL4 54507 genome.wustl.edu 37 1 150531813 150531813 + Silent SNP A A G novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_019032.4 +1 reviewed p.V938 0.973 17 0% 41 29.3% - - - - - HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat POGZ 23126 genome.wustl.edu 37 1 151413408 151413408 + Silent SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_015100.2 -1 reviewed p.N93 1.000 83 0% 379 29.3% - - - - - NULL LINGO4 339398 genome.wustl.edu 37 1 151774394 151774394 + Missense_Mutation SNP T T C novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_001004432.2 -1 provisional p.N263D 1.000 46 0% 134 19.4% - - probably_damaging(0.991) deleterious(0.01) deleterious(0.850) superfamily_SSF52058 FLG 2312 genome.wustl.edu 37 1 152282021 152282021 + Missense_Mutation SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_002016.1 -1 reviewed p.R1781C 0.000 271 0% 500 31.2% - - unknown(0) tolerated(0.05) - NULL KPRP 448834 genome.wustl.edu 37 1 152733041 152733041 + Missense_Mutation SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_001025231.1 +1 provisional p.R326Q 0.993 114 0% 185 24.9% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL ADAR 103 genome.wustl.edu 37 1 154574933 154574933 + Missense_Mutation SNP G G T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_001111.3 -1 reviewed p.P62Q 0.000 114 0% 259 30.5% - - benign(0.007) tolerated(0.23) neutral(0.042) NULL ASH1L 55870 genome.wustl.edu 37 1 155307543 155307543 + Splice_Site SNP C C A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_018489.2 -1 reviewed e27-1 1.000 103 0% 318 28.9% - - - - - - IQGAP3 128239 genome.wustl.edu 37 1 156504336 156504336 + Missense_Mutation SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_178229.4 -1 validated p.R1233W 0.013 39 0% 82 23.2% - - probably_damaging(0.982) deleterious(0.02) deleterious(0.809) HMMSmart_RasGAP,superfamily_Rho_GAP COPA 1314 genome.wustl.edu 37 1 160283821 160283821 + Missense_Mutation SNP A A T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_001098398.1 -1 reviewed p.N267K 1.000 128 0% 225 22.2% - - possibly_damaging(0.715) tolerated(0.15) deleterious(0.500) HMMSmart_WD40,superfamily_WD40_like,HMMPfam_WD40 OLFML2B 25903 genome.wustl.edu 37 1 161989923 161989923 + Missense_Mutation SNP C C A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_015441.1 -1 provisional p.C75F 1.000 75 0% 210 29% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL DUSP27 92235 genome.wustl.edu 37 1 167082968 167082968 + Silent SNP A A G novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_001080426.1 +1 provisional p.A44 0.847 139 0% 347 22.8% - - - - - NULL PRRX1 5396 genome.wustl.edu 37 1 170689014 170689014 + Missense_Mutation SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_022716.2 +1 reviewed p.R130Q 1.000 91 0% 220 27.3% - - possibly_damaging(0.454) deleterious(0.01) deleterious(0.554) HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like,PatternScan_HOMEOBOX_1 TNN 63923 genome.wustl.edu 37 1 175066759 175066759 + Missense_Mutation SNP C C T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_022093.1 +1 validated p.H599Y 0.022 52 0% 180 27.8% - - benign(0) tolerated(1) - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III RNASEL 6041 genome.wustl.edu 37 1 182554717 182554717 + Nonsense_Mutation SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_021133.2 -1 reviewed p.Q409* 0.001 189 0% 494 24.5% - - - - - HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) APOBEC4 403314 genome.wustl.edu 37 1 183617262 183617262 + Missense_Mutation SNP C C T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_203454.2 -1 reviewed p.A219T 0.895 174 0% 278 29.1% - - benign(0.082) tolerated(0.71) neutral(0.007) NULL SWT1 54823 genome.wustl.edu 37 1 185143659 185143659 + Missense_Mutation SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_001105518.1 +1 validated p.C127Y 0.000 91 0% 93 10.8% - - possibly_damaging(0.604) deleterious(0) deleterious(0.654) NULL IVNS1ABP 10625 genome.wustl.edu 37 1 185267293 185267293 + Missense_Mutation SNP A A C novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_006469.4 -1 validated p.I601M 0.231 366 0% 580 26.7% - - benign(0.001) tolerated(0.11) neutral(0.272) HMMPfam_Kelch_1,HMMSmart_SM00612,superfamily_Galactose oxidase central domain ASPM 259266 genome.wustl.edu 37 1 197074245 197074245 + Missense_Mutation SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_018136.4 -1 reviewed p.S1379F 0.999 98 0% 210 20.5% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_P-loop containing nucleoside triphosphate hydrolases MDM4 4194 genome.wustl.edu 37 1 204494632 204494632 + RNA SNP T T C novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NR_024171.1 +1 validated NULL 0.002 65 0% 110 29.1% - - - - - - CR2 1380 genome.wustl.edu 37 1 207647057 207647057 + Missense_Mutation SNP C C T rs144014118 by1000genomes TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_001006658.2 +1 reviewed p.R716W 0.004 191 0% 384 27.1% - - probably_damaging(1) tolerated(0.17) deleterious(0.559) HMMPfam_Sushi,HMMSmart_CCP,superfamily_Complement_control_module HSD11B1 3290 genome.wustl.edu 37 1 209907848 209907848 + Silent SNP C C T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_005525.2 +1 reviewed p.D287 0.004 155 0% 285 24.2% - - - - - superfamily_NAD(P)-binding Rossmann-fold domains KCNK2 3776 genome.wustl.edu 37 1 215408315 215408315 + Missense_Mutation SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_001017425.2 +1 reviewed p.A370T 1.000 154 0% 279 30.8% - - benign(0.422) tolerated(0.1) neutral(0.423) NULL IARS2 55699 genome.wustl.edu 37 1 220284258 220284258 + Silent SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_018060.3 +1 validated p.T486 0.002 76 0% 123 29.3% - - - - - HMMPfam_tRNA-synt_1,superfamily_Nucleotidylyl transferase HLX 3142 genome.wustl.edu 37 1 221054556 221054556 + Missense_Mutation SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_021958.3 +1 validated p.G205S 0.000 136 0% 261 33.7% - - benign(0) tolerated(0.46) neutral(0.012) NULL OBSCN 84033 genome.wustl.edu 37 1 228511197 228511197 + Missense_Mutation SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_001098623.1 +1 reviewed p.G5181D 1.000 9 0.000 38 0.632 - - probably_damaging(0.996) tolerated(0.24) deleterious(0.499) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin URB2 9816 genome.wustl.edu 37 1 229773750 229773750 + Silent SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_014777.2 +1 provisional p.Q1130 0.976 17 0% 62 33.9% - - - - - NULL RYR2 6262 genome.wustl.edu 37 1 237774132 237774132 + Missense_Mutation SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_001035.2 +1 reviewed p.R1585H 0.997 41 0% 87 23% - - probably_damaging(1) - - NULL FMN2 56776 genome.wustl.edu 37 1 240255883 240255883 + Silent SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_020066.4 +1 validated p.P158 0.001 14 0% 22 22.7% - - - - - NULL EXO1 9156 genome.wustl.edu 37 1 242020673 242020673 + Silent SNP C C T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_006027.4 +1 reviewed p.C144 0.989 169 0% 231 22.1% - - - - - HMMPfam_XPG_I,HMMSmart_SM00484,PatternScan_XPG_2,superfamily_PIN domain-like C1orf101 257044 genome.wustl.edu 37 1 244735733 244735735 + In_Frame_Del DEL ACA ACA - novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 ACA ACA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_001130957.1 +1 validated p.T538in_frame_del 0.000:0.000:0.000 - - - - - - - - - NULL KIF26B 55083 genome.wustl.edu 37 1 245847693 245847693 + Missense_Mutation SNP C C T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_018012.3 +1 provisional p.T806M 1.000 11 0% 25 24% - - probably_damaging(1) tolerated(0.07) deleterious(0.819) HMMSmart_SM00129 CNST 163882 genome.wustl.edu 37 1 246755034 246755034 + Missense_Mutation SNP C C T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_152609.2 +1 validated p.A57V 0.001 98 0% 254 27.6% - - possibly_damaging(0.664) deleterious(0) deleterious(0.679) NULL SNTG2 54221 genome.wustl.edu 37 2 1079325 1079325 + Missense_Mutation SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_018968.3 +1 reviewed p.S65N 0.451 107 0% 138 39.9% - - benign(0.11) tolerated(0.34) neutral(0.032) superfamily_PDZ domain-like PXDN 7837 genome.wustl.edu 37 2 1652663 1652663 + Silent SNP C C T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_012293.1 -1 validated p.E963 0.996 10 0% 15 46.7% - - - - - HMMPfam_An_peroxidase,superfamily_Heme-dependent peroxidases RNF144A 9781 genome.wustl.edu 37 2 7179799 7179799 + Missense_Mutation SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_014746.3 +1 reviewed p.V263M 1.000 182 0% 201 41.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_RING GREB1 9687 genome.wustl.edu 37 2 11777860 11777860 + Missense_Mutation SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_014668.3 +1 reviewed p.A1789T 0.943 94 0% 162 43.2% - - benign(0.003) tolerated(0.37) neutral(0.019) NULL CAD 790 genome.wustl.edu 37 2 27462219 27462219 + Missense_Mutation SNP G G T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_004341.3 +1 reviewed p.W1758C 1.000 30 0% 56 25% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Metalo_hydrolase HNRPLL 92906 genome.wustl.edu 37 2 38795343 38795343 + Missense_Mutation SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_138394.3 -1 validated p.P524L 1.000 55 0% 57 40.4% - - probably_damaging(0.995) deleterious(0) deleterious(0.902) superfamily_RNA-binding domain RBD PSME4 23198 genome.wustl.edu 37 2 54114532 54114532 + Silent SNP A A G novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_014614.2 -1 validated p.P1531 0.997 148 0% 203 42.4% - - - - - superfamily_ARM repeat BCL11A 53335 genome.wustl.edu 37 2 60689438 60689438 + Silent SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_022893.3 -1 reviewed p.H203 1.000 32 0% 82 30.5% - - - - - NULL MDH1 4190 genome.wustl.edu 37 2 63834045 63834045 + Missense_Mutation SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_005917.2 +1 reviewed p.R310H 1.000 80 0% 94 48.9% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Ldh_1_C,superfamily_LDH C-terminal domain-like NAGK 55577 genome.wustl.edu 37 2 71305599 71305599 + Silent SNP C C T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_017567.4 +1 validated p.S332 0.000 30 0% 69 31.9% - - - - - NULL SMYD5 10322 genome.wustl.edu 37 2 73446020 73446020 + Missense_Mutation SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_006062.2 +1 validated p.R43Q 0.986 20 0% 64 32.8% - - probably_damaging(0.975) tolerated(0.05) deleterious(0.762) HMMSmart_SET,superfamily_SSF82199 NAT8 9027 genome.wustl.edu 37 2 73868686 73868686 + Missense_Mutation SNP C C A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_003960.3 -1 reviewed p.G24W 0.797 80 0% 137 42.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Acyl_CoA_acyltransferase SLC4A5 57835 genome.wustl.edu 37 2 74475491 74475491 + Silent SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_021196.3 -1 reviewed p.F592 0.988 50 0% 71 39.4% - - - - - HMMPfam_HCO3_cotransp IL1RL2 8808 genome.wustl.edu 37 2 102818141 102818141 + Silent SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_003854.2 +1 reviewed p.Q205 0.000 91 0% 163 37.4% - - - - - HMMSmart_IG,superfamily_SSF48726 ZEB2 9839 genome.wustl.edu 37 2 145156892 145156892 + Missense_Mutation SNP A A G novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_014795.3 -1 reviewed p.V621A 1.000 185 0% 212 31.6% - - benign(0) tolerated(0.9) - NULL MMADHC 27249 genome.wustl.edu 37 2 150427601 150427601 + Missense_Mutation SNP C C T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_015702.2 -1 reviewed p.A232T 1.000 146 0% 117 35% - - probably_damaging(0.993) tolerated(0.08) deleterious(0.750) HMMPfam_DUF2246 NEB 4703 genome.wustl.edu 37 2 152553250 152553250 + Splice_Site SNP C C T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_004543.4 -1 reviewed e15-1 1.000 72 0% 73 38.4% - - - - - - PPIG 9360 genome.wustl.edu 37 2 170489738 170489738 + Missense_Mutation SNP T T A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_004792.2 +1 validated p.I333N 1.000 114 0% 157 39.5% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL WIPF1 7456 genome.wustl.edu 37 2 175436546 175436546 + Silent SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_001077269.1 -1 reviewed p.D329 0.213 47 0% 59 44.1% - - - - - NULL WIPF1 7456 genome.wustl.edu 37 2 175437120 175437120 + Missense_Mutation SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_001077269.1 -1 reviewed p.A138V 1.000 85 1.2% 119 41.2% - - probably_damaging(0.98) tolerated(0.09) deleterious(0.720) NULL TTN 7273 genome.wustl.edu 37 2 179437432 179437432 + Missense_Mutation SNP T T C novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 ENST00000356127 -1 known p.E21906G 1.000 76 0% 135 42.2% - - benign(0.157) - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179495593 179495593 + Missense_Mutation SNP T T C novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 ENST00000356127 -1 known p.I12130V 1.000 100 0% 107 40.2% - - benign(0.099) - - HMMSmart_SM00409,HMMPfam_I-set GULP1 51454 genome.wustl.edu 37 2 189452585 189452585 + Frame_Shift_Del DEL G G - novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_016315.2 +1 validated p.D252fs 1.000 - - - - - - - - - NULL MYO1B 4430 genome.wustl.edu 37 2 192252032 192252032 + Missense_Mutation SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_001130158.1 +1 validated p.S546N 0.957 155 0% 228 31.1% - - benign(0) tolerated(0.64) neutral(0.003) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases ANKRD44 91526 genome.wustl.edu 37 2 197943383 197943384 + Frame_Shift_Del DEL TG TG - rs139294990 byCluster;by1000genomes TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 TG TG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 ENST00000409153 -1 known p.H565fs 0.001:0.002 - - - - - - - - - superfamily_ANK RAPH1 65059 genome.wustl.edu 37 2 204360027 204360027 + Missense_Mutation SNP C C T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_213589.1 -1 validated p.S17N 1.000 161 0% 228 39% - - possibly_damaging(0.621) deleterious(0) deleterious(0.661) NULL MDH1B 130752 genome.wustl.edu 37 2 207619760 207619760 + Missense_Mutation SNP C C T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_001039845.1 -1 validated p.A295T 1.000 159 1.3% 207 35.7% - - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) superfamily_LDH C-terminal domain-like MAP2 4133 genome.wustl.edu 37 2 210594949 210594949 + Frame_Shift_Del DEL G G - novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_002374.3 +1 reviewed p.R1771fs 1.000 - - - - - - - - - NULL ACADL 33 genome.wustl.edu 37 2 211070473 211070473 + Silent SNP C C A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_001608.3 -1 reviewed p.A217 0.002 100 0% 121 40.5% - - - - - HMMPfam_Acyl-CoA_dh_M,superfamily_AcylCoA_dehyd_NM OBSL1 23363 genome.wustl.edu 37 2 220421220 220421221 + Frame_Shift_Del DEL AA AA - novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 AA AA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_015311.2 -1 reviewed p.L1431fs 0.879:0.910 - - - - - - - - - HMMSmart_IG,superfamily_SSF48726 STK11IP 114790 genome.wustl.edu 37 2 220472960 220472960 + Missense_Mutation SNP C C T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 ENST00000456909 +1 known p.P471S 0.000 6 0.000 28 0.250 - - benign(0.077) tolerated(0.85) neutral(0.006) NULL TRIP12 9320 genome.wustl.edu 37 2 230668714 230668714 + Splice_Site SNP C C T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_004238.1 -1 provisional e17+1 1.000 150 0% 94 39.4% - - - - - - SP140 11262 genome.wustl.edu 37 2 231112670 231112670 + Missense_Mutation SNP A A G novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_007237.4 +1 validated p.Y261C 0.001 316 0% 606 37.6% - - probably_damaging(0.99) tolerated(0.14) deleterious(0.691) NULL SP140 11262 genome.wustl.edu 37 2 231155185 231155185 + Missense_Mutation SNP G G T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_007237.4 +1 validated p.K577N 0.001 110 0% 110 32.7% - - probably_damaging(0.969) deleterious(0.02) deleterious(0.794) superfamily_SAND domain-like SP140 11262 genome.wustl.edu 37 2 231157468 231157468 + Missense_Mutation SNP C C T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_007237.4 +1 validated p.R645C 0.100 101 0% 132 44.7% - - probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_SAND,HMMSmart_SM00258,superfamily_SAND domain-like ARMC9 80210 genome.wustl.edu 37 2 232104682 232104682 + Silent SNP C C A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_025139.3 +1 validated p.V269 0.992 51 0% 62 30.6% - - - - - superfamily_ARM-type_fold ATG16L1 55054 genome.wustl.edu 37 2 234164786 234164786 + Missense_Mutation SNP T T G novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_030803.6 +1 validated p.L52V 1.000 93 0% 113 44.2% - - possibly_damaging(0.875) tolerated(0.12) deleterious(0.601) HMMPfam_ATG16 CHL1 10752 genome.wustl.edu 37 3 440828 440828 + Missense_Mutation SNP T T G novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_006614.2 +1 reviewed p.S1128A 1.000 146 0% 158 42.4% - - benign(0.247) tolerated(0.28) neutral(0.057) NULL TTLL3 26140 genome.wustl.edu 37 3 9874862 9874862 + Silent SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_001025930.2 +1 provisional p.A543 0.000 43 0% 70 22.9% - - - - - NULL TATDN2 9797 genome.wustl.edu 37 3 10290985 10290985 + Missense_Mutation SNP C C A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_014760.3 +1 validated p.P34H 0.993 40 0% 86 38.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL NR1D2 9975 genome.wustl.edu 37 3 24003722 24003722 + Missense_Mutation SNP A A T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_005126.4 +1 reviewed p.T258S 1.000 103 0% 196 43.9% - - benign(0.007) tolerated(0.51) neutral(0.009) superfamily_Str_ncl_receptor PLCD1 5333 genome.wustl.edu 37 3 38049030 38049030 + RNA DEL G G - rs143450039 TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NR_024071.1 -1 validated NULL 0.000 - - - - - - - - - - XIRP1 165904 genome.wustl.edu 37 3 39230013 39230013 + Silent SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_194293.2 -1 provisional p.R308 0.998 70 0% 118 50% - - - - - HMMPfam_Xin EXOSC7 23016 genome.wustl.edu 37 3 45048983 45048983 + Silent SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_015004.3 +1 validated p.S229 0.000 21 0% 22 27.3% - - - - - HMMPfam_RNase_PH_C FYCO1 79443 genome.wustl.edu 37 3 46008751 46008751 + Missense_Mutation SNP T T C novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_024513.2 -1 validated p.K692R 0.687 98 0% 145 38.6% - - benign(0) tolerated(0.68) neutral(0.002) superfamily_Prefoldin PLXNB1 5364 genome.wustl.edu 37 3 48465780 48465780 + Missense_Mutation SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_001130082.1 -1 validated p.P81S 1.000 8 0.000 9 0.556 - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Sema,HMMSmart_SM00630,superfamily_Sema domain NCKIPSD 51517 genome.wustl.edu 37 3 48718763 48718763 + Missense_Mutation SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_016453.2 -1 reviewed p.S350L 0.616 32 0% 49 53.1% - - possibly_damaging(0.799) tolerated(0.31) neutral(0.328) NULL CAMKV 79012 genome.wustl.edu 37 3 49898210 49898210 + Silent SNP G G T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_024046.3 -1 validated p.R238 0.999 78 0% 155 42.6% - - - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase VPRBP 9730 genome.wustl.edu 37 3 51440668 51440668 + Silent SNP A A G novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_014703.2 -1 validated p.D1405 0.726 41 0% 102 42.2% - - - - - NULL GNL3 26354 genome.wustl.edu 37 3 52727037 52727037 + Missense_Mutation SNP T T G novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_014366.4 +1 validated p.I340S 1.000 48 0% 95 40% - - probably_damaging(0.979) deleterious(0) deleterious(0.867) NULL FOXP1 27086 genome.wustl.edu 37 3 71247152 71247152 + Missense_Mutation SNP G G T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_001012505.1 -1 reviewed p.P83H 0.000 99 0% 85 35.3% - - unknown(0) - - NULL BBX 56987 genome.wustl.edu 37 3 107463526 107463526 + Missense_Mutation SNP G G C novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_001142568.1 +1 validated p.R240P 1.000 195 0% 198 30.8% - - benign(0.075) deleterious(0) neutral(0.450) HMMPfam_DUF2028 ARHGAP31 57514 genome.wustl.edu 37 3 119134301 119134301 + Silent SNP C C T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_020754.2 +1 reviewed p.R1175 1.000 248 0% 275 45.1% - - - - - NULL TMEM108 66000 genome.wustl.edu 37 3 133099122 133099122 + Silent SNP C C T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_001136469.1 +1 validated p.G189 0.093 72 0% 59 27.1% - - - - - NULL TMEM108 66000 genome.wustl.edu 37 3 133114762 133114762 + Missense_Mutation SNP A A G novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_001136469.1 +1 validated p.M554V 1.000 42 0% 74 31.1% - - benign(0.087) tolerated(0.28) neutral(0.038) NULL IL20RB 53833 genome.wustl.edu 37 3 136699214 136699214 + Missense_Mutation SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 ENST00000491483 +1 known p.A50T 0.005 73 0% 86 37.2% - - unknown(0) - - NULL GPR149 344758 genome.wustl.edu 37 3 154146521 154146521 + Missense_Mutation SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_001038705.1 -1 provisional p.T295I 0.000 115 0% 111 29.7% - - benign(0) tolerated(0.12) neutral(0.261) NULL MECOM 2122 genome.wustl.edu 37 3 168838908 168838908 + Silent SNP C C T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 ENST00000494292 -1 known p.T356 0.055 36 0% 56 32.1% - - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers LRRC34 151827 genome.wustl.edu 37 3 169521850 169521850 + Silent SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_153353.4 -1 validated p.D203 1.000 106 0% 102 41.2% - - - - - HMMSmart_SM00368,superfamily_RNI-like ECE2 9718 genome.wustl.edu 37 3 184008832 184008832 + Silent SNP C C T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_014693.3 +1 validated p.R731 0.268 43 0% 123 37.4% - - - - - "HMMPfam_Peptidase_M13,superfamily_Metalloproteases (""zincins"") catalytic domain" EIF4G1 1981 genome.wustl.edu 37 3 184038752 184038752 + Missense_Mutation SNP C C T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_182917.3 +1 reviewed p.T223M 0.990 5 0.000 26 0.269 - - possibly_damaging(0.884) deleterious(0) deleterious(0.789) NULL GAK 2580 genome.wustl.edu 37 4 876539 876540 + Frame_Shift_Ins INS - - T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_005255.2 -1 validated p.N491fs 0.993:0.996 - - - - - - - - - superfamily_SSF52799 SH3TC1 54436 genome.wustl.edu 37 4 8242550 8242550 + Silent SNP C C T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_018986.3 +1 validated p.D1293 1.000 25 0% 48 35.4% - - - - - superfamily_TPR-like SLC2A9 56606 genome.wustl.edu 37 4 9836518 9836518 + Missense_Mutation SNP A A G novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_020041.2 -1 reviewed p.F469S 1.000 75 0% 145 37.2% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Sugar_tr,superfamily_MFS general substrate transporter AMBN 258 genome.wustl.edu 37 4 71472182 71472182 + Missense_Mutation SNP A A G novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_016519.4 +1 reviewed p.D360G 0.000 66 0% 119 37% - - benign(0.013) deleterious(0.04) neutral(0.349) HMMPfam_Amelin,HMMSmart_SM00817 NPFFR2 10886 genome.wustl.edu 37 4 73013164 73013164 + Missense_Mutation SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_004885.2 +1 reviewed p.A402T 0.999 177 0% 193 39.4% - - benign(0.011) tolerated(0.22) neutral(0.043) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like G3BP2 9908 genome.wustl.edu 37 4 76572336 76572336 + Nonsense_Mutation SNP C C A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_012297.4 -1 validated p.G312* 1.000 126 0% 138 38.4% - - - - - superfamily_RNA-binding domain RBD PPM1K 152926 genome.wustl.edu 37 4 89183813 89183813 + Silent SNP T T C novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_152542.3 -1 validated p.K351 0.995 77 0% 94 41.5% - - - - - superfamily_Protein serine/threonine phosphatase 2C catalytic domain NAP1L5 266812 genome.wustl.edu 37 4 89618444 89618444 + Missense_Mutation SNP C C G novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_153757.2 -1 validated p.E154D 0.050 158 0% 154 41.6% - - unknown(0) tolerated(0.29) - HMMPfam_NAP FAM13A 10144 genome.wustl.edu 37 4 89950786 89950786 + Silent SNP C C T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_014883.2 -1 validated p.A14 0.001 155 0% 187 40.1% - - - - - NULL CENPE 1062 genome.wustl.edu 37 4 104062257 104062257 + Missense_Mutation SNP T T C novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_001813.2 -1 validated p.Q1823R 1.000 74 0% 77 48.1% - - possibly_damaging(0.891) tolerated(0.05) deleterious(0.696) NULL SEC24B 10427 genome.wustl.edu 37 4 110384670 110384670 + Missense_Mutation SNP C C A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_006323.2 +1 reviewed p.H249Q 0.048 179 0% 291 38.8% - - benign(0) tolerated(0.59) neutral(0.004) NULL ANK2 287 genome.wustl.edu 37 4 114302675 114302675 + Missense_Mutation SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 ENST00000446324 +1 known p.R144H 0.922 58 0% 84 42.9% - - benign(0.003) tolerated(0.06) neutral(0.323) NULL LARP1B 55132 genome.wustl.edu 37 4 129019450 129019450 + Nonsense_Mutation SNP C C T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_018078.2 +1 reviewed p.Q260* 1.000 74 0% 101 37.6% - - - - - "HMMPfam_La,HMMSmart_SM00715,superfamily_""Winged helix"" DNA-binding domain" GAB1 2549 genome.wustl.edu 37 4 144359329 144359329 + Silent SNP C C T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_207123.2 +1 reviewed p.S257 1.000 209 0% 263 17.9% - - - - - NULL GUCY1A3 2982 genome.wustl.edu 37 4 156618077 156618077 + Missense_Mutation SNP C C G novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_000856.4 +1 validated p.L20V 0.998 76 0% 121 38.8% - - probably_damaging(0.996) tolerated(0.34) deleterious(0.485) NULL TKTL2 84076 genome.wustl.edu 37 4 164394296 164394296 + Silent SNP C C T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_032136.4 -1 validated p.E197 1.000 96 0% 141 41.8% - - - - - HMMPfam_Transketolase_N,superfamily_SSF52518 TRAPPC11 60684 genome.wustl.edu 37 4 184615812 184615813 + Frame_Shift_Del DEL TA TA - novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 TA TA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_021942.4 +1 validated p.Y856fs 1.000:0.866 - - - - - - - - - NULL FAT1 2195 genome.wustl.edu 37 4 187521413 187521413 + Silent SNP C C A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_005245.3 -1 reviewed p.V3914 1.000 80 0% 131 48.1% - - - - - HMMSmart_SM00282,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2 FAT1 2195 genome.wustl.edu 37 4 187540627 187540627 + Silent SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_005245.3 -1 reviewed p.S2371 1.000 162 0% 164 39.6% - - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like MYO10 4651 genome.wustl.edu 37 5 16674998 16674998 + Missense_Mutation SNP C C T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_012334.2 -1 validated p.R1643Q 0.998 137 0% 198 34.3% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_MyTH4,HMMSmart_MyTH4 DHX29 54505 genome.wustl.edu 37 5 54589922 54589922 + Nonsense_Mutation SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_019030.2 -1 validated p.R235* 0.736 130 0% 112 36.6% - - - - - NULL PIK3R1 5295 genome.wustl.edu 37 5 67591105 67591106 + Frame_Shift_Ins INS - - A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_181523.1 +1 reviewed p.P567fs 0.993:1.000 - - - - - - - - - NULL MAN2A1 4124 genome.wustl.edu 37 5 109117133 109117133 + Silent SNP C C T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_002372.2 +1 reviewed p.L471 0.006 88 0% 78 42.3% - - - - - HMMPfam_Glyco_hydro_38,superfamily_Glyco_hydro/deAcase_b/a-brl MEGF10 84466 genome.wustl.edu 37 5 126732356 126732356 + Missense_Mutation SNP G G C novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_032446.2 +1 validated p.C182S 1.000 83 0% 136 37.5% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Laminin_EGF,HMMSmart_SM00180,PatternScan_EGF_2,superfamily_EGF/Laminin IRF1 3659 genome.wustl.edu 37 5 131822682 131822682 + Silent SNP G G T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_002198.2 -1 reviewed p.R110 0.997 63 0% 85 41.2% - - - - - "HMMPfam_IRF,HMMSmart_SM00348,superfamily_""Winged helix"" DNA-binding domain" AFF4 27125 genome.wustl.edu 37 5 132232736 132232736 + Missense_Mutation SNP G G T rs188073736 by1000genomes TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_014423.3 -1 validated p.P529Q 1.000 129 0% 263 39.9% - - probably_damaging(0.999) tolerated(0.06) deleterious(0.813) HMMPfam_AF-4 C5orf15 56951 genome.wustl.edu 37 5 133295360 133295362 + In_Frame_Del DEL TCG TCG - novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 TCG TCG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_020199.2 -1 validated p.D163in_frame_del 0.017:0.007:0.000 - - - - - - - - - NULL TRPC7 57113 genome.wustl.edu 37 5 135692393 135692393 + Missense_Mutation SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 ENST00000513104 -1 known p.A228V 1.000 26 0% 45 33.3% - - benign(0.023) deleterious(0) neutral(0.446) HMMPfam_TRP_2 CDC25C 995 genome.wustl.edu 37 5 137666772 137666772 + Missense_Mutation SNP A A G novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_001790.3 -1 reviewed p.L33P 0.996 66 0% 116 31% - - probably_damaging(0.996) deleterious(0.04) deleterious(0.810) NULL PCDHGB7 56099 genome.wustl.edu 37 5 140797511 140797511 + Silent SNP C C T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_018927.2 +1 reviewed p.L29 0.940 21 0% 23 39.1% - - - - - superfamily_Cadherin-like PCDHGA12 26025 genome.wustl.edu 37 5 140812236 140812236 + Missense_Mutation SNP C C T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_003735.2 +1 reviewed p.A637V 0.527 80 0% 113 40.7% - - benign(0.044) deleterious(0.05) neutral(0.348) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like HTR4 3360 genome.wustl.edu 37 5 147902903 147902903 + Silent SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_001040173.2 -1 reviewed p.Y120 1.000 102 1% 150 38.7% - - - - - HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321 HAND1 9421 genome.wustl.edu 37 5 153857214 153857214 + Missense_Mutation SNP C C T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_004821.2 -1 reviewed p.E119K 1.000 35 0% 51 27.5% - - possibly_damaging(0.895) tolerated(0.12) deleterious(0.613) HMMPfam_HLH,HMMSmart_HLH,superfamily_HLH_basic GABRG2 2566 genome.wustl.edu 37 5 161528292 161528292 + Silent SNP T T C novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_198903.2 +1 reviewed p.D200 1.000 107 0% 125 39.2% - - - - - HMMPfam_Neur_chan_LBD,superfamily_Nicotinic receptor ligand binding domain-like,PatternScan_NEUROTR_ION_CHANNEL FGF18 8817 genome.wustl.edu 37 5 170863109 170863109 + Missense_Mutation SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_003862.1 +1 reviewed p.E28K 1.000 23 0% 61 45.9% - - benign(0.271) tolerated(0.28) neutral(0.060) superfamily_Cytok_IL1_like NSD1 64324 genome.wustl.edu 37 5 176722277 176722277 + Silent SNP C C G novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_022455.4 +1 reviewed p.L2636 0.988 75 0% 133 34.6% - - - - - NULL HIVEP1 3096 genome.wustl.edu 37 6 12120458 12120458 + Missense_Mutation SNP C C T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_002114.2 +1 validated p.R144C 0.012 218 0% 359 37.3% - - benign(0.091) tolerated(0.23) neutral(0.048) NULL GFOD1 54438 genome.wustl.edu 37 6 13365212 13365212 + Silent SNP C C T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_018988.2 -1 provisional p.A312 0.019 22 0% 32 15.6% - - - - - NULL JARID2 3720 genome.wustl.edu 37 6 15513561 15513561 + Missense_Mutation SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_004973.2 +1 reviewed p.A1120T 0.074 23 0% 12 58.3% - - benign(0) tolerated(0.15) neutral(0.241) NULL ZNF311 282890 genome.wustl.edu 37 6 28963169 28963169 + Missense_Mutation SNP C C T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_001010877.2 -1 provisional p.S537N 0.046 118 0% 264 37.5% - - benign(0.001) tolerated(0.5) neutral(0.010) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers C6orf25 80739 genome.wustl.edu 37 6 31691696 31691696 + Silent SNP C C T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_138272.1 +1 reviewed p.D114 0.000 272 0% 396 19.7% - - - - - NULL ZBTB12 221527 genome.wustl.edu 37 6 31868978 31868978 + Silent SNP C C A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_181842.2 -1 validated p.V35 1.000 15 0% 15 26.7% - - - - - HMMSmart_SM00225,superfamily_POZ domain,HMMPfam_BTB ITPR3 3710 genome.wustl.edu 37 6 33634929 33634929 + Silent SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_002224.2 +1 validated p.P525 0.006 73 0% 146 41.8% - - - - - HMMPfam_RYDR_ITPR,superfamily_SSF100909 GRM4 2914 genome.wustl.edu 37 6 33996014 33996014 + Missense_Mutation SNP G G A rs145173138 by1000genomes TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_000841.1 -1 reviewed p.R858C 1.000 20 0% 34 32.4% - - probably_damaging(1) deleterious(0.04) deleterious(0.849) NULL DNAH8 1769 genome.wustl.edu 37 6 38723760 38723760 + Missense_Mutation SNP C C T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_001371.2 +1 validated p.H257Y 1.000 102 0% 157 42% - - benign(0.202) deleterious(0.01) neutral(0.425) HMMPfam_DHC_N1 GUCA1A 2978 genome.wustl.edu 37 6 42146372 42146372 + Missense_Mutation SNP C C T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 ENST00000372965 +1 known p.T121M 0.000 75 0% 135 48.1% - - benign(0.307) deleterious(0) deleterious(0.540) superfamily_SSF47473 ELOVL5 60481 genome.wustl.edu 37 6 53133991 53133991 + Silent SNP A A G novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_021814.3 -1 provisional p.N278 0.868 94 1.1% 153 44.4% - - - - - NULL COL12A1 1303 genome.wustl.edu 37 6 75840656 75840656 + Silent SNP C C T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_004370.5 -1 reviewed p.R1993 0.990 195 0% 230 41.3% - - - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III IBTK 25998 genome.wustl.edu 37 6 82900917 82900917 + Nonsense_Mutation SNP C C A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_015525.2 -1 reviewed p.G1150* 1.000 69 1.4% 37 43.2% - - - - - NULL SNAP91 9892 genome.wustl.edu 37 6 84302217 84302217 + Silent SNP C C T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_014841.2 -1 validated p.S629 0.999 48 0% 35 40% - - - - - NULL MDN1 23195 genome.wustl.edu 37 6 90371201 90371201 + Missense_Mutation SNP C C A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_014611.1 -1 provisional p.D4888Y 0.977 131 0% 118 31.4% - - probably_damaging(0.978) deleterious(0) deleterious(0.865) NULL MDN1 23195 genome.wustl.edu 37 6 90382002 90382002 + Missense_Mutation SNP C C T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_014611.1 -1 provisional p.V4571M 0.992 140 0% 238 38.7% - - probably_damaging(0.989) deleterious(0.02) deleterious(0.823) NULL MDN1 23195 genome.wustl.edu 37 6 90384204 90384204 + Missense_Mutation SNP C C T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_014611.1 -1 provisional p.R4289H 0.992 35 0% 61 47.5% - - probably_damaging(0.988) tolerated(0.36) neutral(0.458) NULL GRIK2 2898 genome.wustl.edu 37 6 102376360 102376360 + Silent SNP C C T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_021956.4 +1 reviewed p.I646 1.000 145 0% 124 34.7% - - - - - HMMPfam_Lig_chan,HMMSmart_SM00079,superfamily_Periplasmic binding protein-like II HACE1 57531 genome.wustl.edu 37 6 105233198 105233198 + Silent SNP A A G novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 ENST00000369127 -1 known p.S10 0.004 114 0% 116 27.6% - - - - - NULL SOBP 55084 genome.wustl.edu 37 6 107955270 107955270 + Missense_Mutation SNP C C T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_018013.3 +1 validated p.R408C 1.000 40 0% 40 42.5% - - probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL TAAR5 9038 genome.wustl.edu 37 6 132910501 132910501 + Missense_Mutation SNP G G T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_003967.2 -1 validated p.L109M 0.061 81 0% 193 42.5% - - probably_damaging(0.991) deleterious(0.01) deleterious(0.850) HMMPfam_7tm_1,superfamily_SSF81321 IFNGR1 3459 genome.wustl.edu 37 6 137519505 137519506 + Frame_Shift_Del DEL CT CT - novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 CT CT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_000416.2 -1 reviewed p.S378fs 0.000:0.000 - - - - - - - - - HMMPfam_IFNGR1 VTA1 51534 genome.wustl.edu 37 6 142539701 142539702 + Frame_Shift_Ins INS - - T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_016485.3 +1 provisional p.L283fs 1.000:0.970 - - - - - - - - - HMMPfam_DUF605 UTRN 7402 genome.wustl.edu 37 6 144808702 144808702 + Missense_Mutation SNP C C T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_007124.2 +1 reviewed p.R1281C 1.000 249 0.4% 229 41.5% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Spectrin,HMMSmart_SPEC,superfamily_Spectrin PLEKHG1 57480 genome.wustl.edu 37 6 151152859 151152859 + Missense_Mutation SNP G G T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_001029884.1 +1 provisional p.R871M 0.031 93 0% 117 41.9% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL FBXO5 26271 genome.wustl.edu 37 6 153294212 153294212 + Missense_Mutation SNP T T C novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_012177.3 -1 reviewed p.Q293R 0.987 93 0% 119 38.7% - - possibly_damaging(0.923) tolerated(0.19) neutral(0.422) HMMPfam_F-box SYNJ2 8871 genome.wustl.edu 37 6 158497778 158497778 + Silent SNP C C T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_003898.3 +1 reviewed p.L805 1.000 63 0% 156 43.6% - - - - - HMMSmart_SM00128,HMMPfam_Exo_endo_phos,superfamily_DNase I-like FNDC1 84624 genome.wustl.edu 37 6 159653070 159653070 + Missense_Mutation SNP T T C novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_032532.2 +1 validated p.L509S 0.996 57 0% 77 42.9% - - unknown(0) tolerated(0.11) - NULL FNDC1 84624 genome.wustl.edu 37 6 159670116 159670116 + Missense_Mutation SNP C C T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_032532.2 +1 validated p.S1579L 0.004 24 0% 43 34.9% - - probably_damaging(0.959) deleterious(0.01) deleterious(0.808) NULL PRKAR1B 5575 genome.wustl.edu 37 7 635869 635869 + Missense_Mutation SNP C C A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_002735.2 -1 validated p.G208C 1.000 35 0% 43 14% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_cNMP_binding,HMMSmart_cNMP,PatternScan_CNMP_BINDING_2,superfamily_cNMP_binding SUN1 23353 genome.wustl.edu 37 7 909144 909144 + Silent SNP C C T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 ENST00000433212 +1 known p.R562C 0.076 63 0% 128 40.6% - - - - - HMMPfam_Sad1_UNC MAD1L1 8379 genome.wustl.edu 37 7 1997345 1997345 + Silent SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_001013836.1 -1 reviewed p.V505 0.106 22 0% 53 39.6% - - - - - HMMPfam_MAD ZNF12 7559 genome.wustl.edu 37 7 6737008 6737008 + Nonsense_Mutation SNP C C A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 ENST00000394917 -1 known p.G66* 1.000 31 0% 67 44.8% - - - - - NULL AGR2 10551 genome.wustl.edu 37 7 16834595 16834595 + Missense_Mutation SNP C C T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_006408.3 -1 validated p.R148H 0.998 42 0% 74 33.8% - - possibly_damaging(0.441) tolerated(0.33) neutral(0.168) superfamily_Thioredoxin-like HOXA9 3205 genome.wustl.edu 37 7 27203353 27203353 + Missense_Mutation SNP A A G novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_152739.3 -1 reviewed p.Y230H 1.000 72 0% 125 41.6% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Homeobox,HMMSmart_HOX,superfamily_Homeodomain_like HOXA10 3206 genome.wustl.edu 37 7 27213918 27213918 + Missense_Mutation SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_018951.3 -1 reviewed p.A3V 1.000 10 0% 15 53.3% - - probably_damaging(0.992) deleterious(0) deleterious(0.892) NULL PSMA2 5683 genome.wustl.edu 37 7 42962997 42962997 + Missense_Mutation SNP C C T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_002787.4 -1 reviewed p.R128H 1.000 66 0% 90 27.8% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_Proteasome,superfamily_N-terminal nucleophile aminohydrolases (Ntn hydrolases) BLVRA 644 genome.wustl.edu 37 7 43846819 43846819 + Silent SNP C C T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_000712.3 +1 validated p.C292 0.407 112 0% 185 43.2% - - - - - NULL OGDH 4967 genome.wustl.edu 37 7 44733446 44733446 + Missense_Mutation SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_002541.3 +1 reviewed p.R453Q 1.000 19 0% 29 24.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_E1_dh,superfamily_SSF52518 IKZF1 10320 genome.wustl.edu 37 7 50467993 50467993 + Missense_Mutation SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 ENST00000331340 +1 known p.G410S 1.000 28 0% 48 29.2% - - benign(0) tolerated(0.17) neutral(0.059) NULL CCDC132 55610 genome.wustl.edu 37 7 92938187 92938187 + Missense_Mutation SNP A A C novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_017667.2 +1 validated p.S561R 1.000 127 0% 151 35.1% - - probably_damaging(0.99) deleterious(0.03) deleterious(0.806) NULL GIGYF1 64599 genome.wustl.edu 37 7 100284442 100284442 + Missense_Mutation SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_022574.4 -1 validated p.A175V 0.984 7 0.000 15 0.467 - - benign(0.001) tolerated(0.25) neutral(0.037) NULL PIK3CG 5294 genome.wustl.edu 37 7 106508876 106508876 + Silent SNP C C T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_002649.2 +1 reviewed p.F290 1.000 79 0% 114 37.7% - - - - - HMMPfam_PI3K_rbd,HMMSmart_SM00144,superfamily_Ubiquitin-like DOCK4 9732 genome.wustl.edu 37 7 111368391 111368391 + Missense_Mutation SNP G G C novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_014705.3 -1 reviewed p.A1947G 1.000 18 0% 11 63.6% - - benign(0) deleterious(0.03) neutral(0.364) NULL C7orf58 79974 genome.wustl.edu 37 7 120906814 120906814 + Missense_Mutation SNP A A G novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_024913.4 +1 validated p.Q862R 1.000 239 0% 376 37% - - probably_damaging(0.975) tolerated(0.08) deleterious(0.717) NULL FAM180A 389558 genome.wustl.edu 37 7 135418821 135418821 + Missense_Mutation SNP C C T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_205855.3 -1 validated p.G142S 0.370 58 0% 78 42.3% - - probably_damaging(0.999) tolerated(0.5) deleterious(0.500) NULL DGKI 9162 genome.wustl.edu 37 7 137206689 137206689 + Missense_Mutation SNP A A G novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_004717.2 -1 reviewed p.L724P 1.000 78 0% 69 27.5% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL TRBV28 28559 genome.wustl.edu 37 7 142428778 142428778 + Missense_Mutation SNP G G T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 ENST00000390400 +1 known p.M46I 0.000 69 0% 92 47.8% - - possibly_damaging(0.897) tolerated(0.3) neutral(0.383) HMMPfam_V-set,superfamily_SSF48726 HTR5A 3361 genome.wustl.edu 37 7 154875967 154875967 + Missense_Mutation SNP C C T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_024012.2 +1 reviewed p.R282W 0.645 82 0% 144 38.9% - - probably_damaging(0.982) deleterious(0) deleterious(0.871) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like CSMD1 64478 genome.wustl.edu 37 8 3045398 3045398 + Silent SNP G G A rs186294991 by1000genomes TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_033225.5 -1 validated p.S1872 0.327 55 0% 70 44.3% - - - - - HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain MTMR9 66036 genome.wustl.edu 37 8 11152732 11152732 + Missense_Mutation SNP T T C novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_015458.3 +1 reviewed p.I71T 1.000 187 0% 261 40.6% - - benign(0.127) deleterious(0) neutral(0.455) superfamily_SSF50729 TNFRSF10B 8795 genome.wustl.edu 37 8 22926262 22926262 + Splice_Site SNP A A G novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_003842.4 -1 reviewed e1+2 0.362 8 0.000 9 0.667 - - - - - - KIF13B 23303 genome.wustl.edu 37 8 28997674 28997674 + Missense_Mutation SNP A A C novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_015254.3 -1 validated p.L840R 0.991 46 0% 82 26.8% - - possibly_damaging(0.843) deleterious(0) deleterious(0.768) NULL KCNU1 157855 genome.wustl.edu 37 8 36793300 36793300 + Silent SNP A A G novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_001031836.2 +1 validated p.Q1104 0.001 386 0% 556 37.4% - - - - - NULL NPBWR1 2831 genome.wustl.edu 37 8 53852602 53852602 + Silent SNP G G T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_005285.3 +1 validated p.A45 0.910 9 0.000 33 0.455 - - - - - superfamily_SSF81321 NSMAF 8439 genome.wustl.edu 37 8 59502600 59502600 + Missense_Mutation SNP C C T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_001144772.1 -1 reviewed p.A716T 1.000 86 0% 73 32.9% - - benign(0) tolerated(0.62) neutral(0.004) HMMSmart_SM00320,superfamily_WD40 repeat-like CHD7 55636 genome.wustl.edu 37 8 61655146 61655146 + Silent SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_017780.2 +1 reviewed p.Q385 1.000 177 0% 272 36.8% - - - - - NULL SLC26A7 115111 genome.wustl.edu 37 8 92346618 92346618 + Silent SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_134266.1 +1 reviewed p.E246 0.999 93 0% 123 43.1% - - - - - HMMPfam_Sulfate_transp KIAA1429 25962 genome.wustl.edu 37 8 95538595 95538595 + Missense_Mutation SNP C C A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_015496.3 -1 validated p.R626M 1.000 193 0% 232 47.4% - - possibly_damaging(0.688) tolerated(0.06) deleterious(0.569) NULL CSMD3 114788 genome.wustl.edu 37 8 113649179 113649179 + Silent SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_198123.1 -1 validated p.I1194 0.985 153 0% 172 39% - - - - - HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain ZFAT 57623 genome.wustl.edu 37 8 135614578 135614578 + Missense_Mutation SNP C C T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_020863.3 -1 reviewed p.V462I 0.002 32 0% 37 54.1% - - benign(0) tolerated(0.57) neutral(0.006) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers COL22A1 169044 genome.wustl.edu 37 8 139603667 139603667 + Missense_Mutation SNP C C T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_152888.1 -1 validated p.G1565S 1.000 35 0% 36 33.3% - - unknown(0) deleterious(0) - NULL COL22A1 169044 genome.wustl.edu 37 8 139788227 139788227 + Silent SNP C C T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_152888.1 -1 validated p.K595 0.876 72 0% 135 40.7% - - - - - HMMPfam_Collagen FLJ43860 389690 genome.wustl.edu 37 8 142446818 142446818 + Missense_Mutation SNP C C T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_207414.2 -1 validated p.V1123I 0.001 4 0.000 7 0.714 - - benign(0.01) tolerated(1) neutral(0.001) superfamily_ARM repeat ZNF7 7553 genome.wustl.edu 37 8 146067086 146067086 + Silent SNP C C T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_003416.2 +1 validated p.C198 0.008 51 0% 115 35.7% - - - - - NULL SMARCA2 6595 genome.wustl.edu 37 9 2161869 2161869 + Missense_Mutation SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_003070.3 +1 reviewed p.A1389T 1.000 151 0% 200 31.5% - - benign(0.218) tolerated(0.14) neutral(0.271) HMMSmart_SM00297,superfamily_Bromodomain KCNV2 169522 genome.wustl.edu 37 9 2718861 2718861 + Missense_Mutation SNP G G T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_133497.2 +1 reviewed p.Q374H 1.000 46 0% 66 33.3% - - possibly_damaging(0.602) deleterious(0.05) deleterious(0.554) HMMPfam_Ion_trans,superfamily_SSF81324 FREM1 158326 genome.wustl.edu 37 9 14789027 14789028 + Frame_Shift_Del DEL GT GT - novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 GT GT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_144966.5 -1 reviewed p.T1356fs 0.995:1.000 - - - - - - - - - NULL BNC2 54796 genome.wustl.edu 37 9 16419575 16419575 + Silent SNP C C T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_017637.5 -1 validated p.S904 0.959 121 0% 155 38.1% - - - - - NULL CNTLN 54875 genome.wustl.edu 37 9 17484476 17484476 + Missense_Mutation SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_017738.2 +1 validated p.V1347M 0.272 221 0% 228 35.5% - - benign(0) tolerated(0.28) neutral(0.032) NULL ADAMTSL1 92949 genome.wustl.edu 37 9 18777867 18777867 + Missense_Mutation SNP T T C novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_001040272.4 +1 validated p.W1214R 1.000 37 0% 80 11.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin PLIN2 123 genome.wustl.edu 37 9 19123621 19123621 + Missense_Mutation SNP C C T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_001122.2 -1 reviewed p.C84Y 1.000 48 0% 55 41.8% - - probably_damaging(0.997) deleterious(0.01) deleterious(0.872) HMMPfam_Perilipin DCAF10 79269 genome.wustl.edu 37 9 37819291 37819291 + Silent SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_024345.3 +1 validated p.V182 1.000 57 0% 77 36.4% - - - - - HMMSmart_SM00320,superfamily_WD40 repeat-like ANKRD18A 253650 genome.wustl.edu 37 9 38615928 38615928 + Missense_Mutation SNP T T C novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 ENST00000399703 -1 known p.K107R 1.000 13 0% 18 22.2% - - benign(0.043) deleterious(0.03) neutral(0.367) HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK AGTPBP1 23287 genome.wustl.edu 37 9 88248206 88248206 + Silent SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_015239.2 -1 validated p.G422 0.992 157 0% 140 19.3% - - - - - NULL FGD3 89846 genome.wustl.edu 37 9 95768397 95768397 + Missense_Mutation SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_001083536.1 +1 validated p.V258I 0.049 76 0% 80 42.5% - - benign(0.348) tolerated(0.12) neutral(0.370) HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain) TEX10 54881 genome.wustl.edu 37 9 103090123 103090123 + Nonsense_Mutation SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_017746.3 -1 validated p.R583* 1.000 166 0% 158 42.4% - - - - - NULL RAD23B 5887 genome.wustl.edu 37 9 110091855 110091855 + Missense_Mutation SNP T T C novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_002874.3 +1 reviewed p.V383A 1.000 150 0% 171 38% - - probably_damaging(0.993) deleterious(0) deleterious(0.895) HMMPfam_UBA,superfamily_UBA-like,HMMSmart_SM00165 IKBKAP 8518 genome.wustl.edu 37 9 111662117 111662117 + Missense_Mutation SNP C C T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_003640.3 -1 reviewed p.R730Q 1.000 298 0% 259 38.2% - - probably_damaging(0.999) tolerated(0.21) deleterious(0.534) HMMPfam_IKI3 GSN 2934 genome.wustl.edu 37 9 124076302 124076302 + Splice_Site SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_000177.4 +1 reviewed e6+1 1.000 20 0% 60 35% - - - - - - RABGAP1 23637 genome.wustl.edu 37 9 125827753 125827755 + In_Frame_Del DEL AAA AAA - rs3214358 TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 AAA AAA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 ENST00000447652 +1 known p.K576in_frame_del 0.000:0.000:0.013 - - - - - - - - - NULL MAPKAP1 79109 genome.wustl.edu 37 9 128432165 128432165 + Missense_Mutation SNP C C T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_001006617.1 -1 reviewed p.R94Q 1.000 114 0% 117 39.3% - - probably_damaging(0.997) tolerated(0.23) deleterious(0.508) HMMPfam_SIN1 DNM1 1759 genome.wustl.edu 37 9 131016984 131016984 + Silent SNP C C T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_004408.2 +1 reviewed p.F862 1.000 68 0% 88 29.5% - - - - - NULL TOR1A 1861 genome.wustl.edu 37 9 132580832 132580832 + Missense_Mutation SNP C C T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_000113.2 -1 reviewed p.A239T 0.142 89 0% 178 35.4% - - benign(0.009) tolerated(0.69) neutral(0.003) HMMPfam_Torsin,superfamily_P-loop containing nucleoside triphosphate hydrolases ENSG00000248272 0 genome.wustl.edu 37 9 135896140 135896140 + RNA SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 ENST00000506798 -1 known NULL 1.000 59 0% 95 30.5% - - - - - - SDCCAG3 10807 genome.wustl.edu 37 9 139298625 139298625 + Nonsense_Mutation SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_001039707.1 -1 validated p.R364* 0.184 22 0% 36 22.2% - - - - - NULL ITIH2 3698 genome.wustl.edu 37 10 7780691 7780691 + Nonsense_Mutation SNP G G T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_002216.2 +1 validated p.E689* 0.008 77 0% 119 22.7% - - - - - NULL VIM 7431 genome.wustl.edu 37 10 17277219 17277219 + Missense_Mutation SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_003380.3 +1 reviewed p.E354K 1.000 74 0% 184 25.5% - - benign(0.128) deleterious(0) neutral(0.455) HMMPfam_Filament PIP4K2A 5305 genome.wustl.edu 37 10 22880678 22880678 + Silent SNP G G A rs191394168 by1000genomes TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_005028.4 -1 reviewed p.N124 0.808 47 0% 84 26.2% - - - - - HMMPfam_PIP5K,HMMSmart_SM00330,superfamily_SAICAR synthase-like KIAA1217 56243 genome.wustl.edu 37 10 24831623 24831623 + Missense_Mutation SNP A A T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_019590.3 +1 validated p.N1179I 0.998 99 0% 247 23.9% - - benign(0.132) deleterious(0) neutral(0.456) NULL ERCC6 2074 genome.wustl.edu 37 10 50732498 50732498 + Missense_Mutation SNP C C A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_000124.2 -1 reviewed p.E326D 0.068 88 0% 151 24.5% - - possibly_damaging(0.794) deleterious(0.02) deleterious(0.681) NULL NCOA4 8031 genome.wustl.edu 37 10 51585108 51585108 + Missense_Mutation SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_001145260.1 +1 reviewed p.V419M 0.995 118 0% 222 24.3% - - probably_damaging(0.998) deleterious(0.02) deleterious(0.857) NULL SLC29A3 55315 genome.wustl.edu 37 10 73122144 73122144 + Missense_Mutation SNP C C T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 ENST00000373189 +1 known p.H403Y 1.000 82 0% 275 27.6% - - probably_damaging(0.975) tolerated(0.56) neutral(0.423) HMMPfam_Nucleoside_tran MIR606 693191 genome.wustl.edu 37 10 77312274 77312274 + RNA SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 ENST00000384851 +1 known NULL 0.002 26 0% 33 27.3% - - - - - - SFTPA2 729238 genome.wustl.edu 37 10 81319105 81319105 + Silent SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_001098668.2 -1 reviewed p.D45 1.000 126 0% 190 19.5% - - - - - HMMPfam_Collagen LRIT1 26103 genome.wustl.edu 37 10 86001154 86001154 + Silent SNP C C T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_015613.2 -1 validated p.A14 0.010 29 0% 60 36.7% - - - - - NULL RGR 5995 genome.wustl.edu 37 10 86012730 86012730 + Missense_Mutation SNP G G T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_002921.3 +1 reviewed p.G163V 1.000 111 0% 177 27.7% - - probably_damaging(0.964) tolerated(0.09) deleterious(0.703) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like LDB3 11155 genome.wustl.edu 37 10 88441288 88441288 + Silent SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_007078.2 +1 reviewed p.R139 0.518 28 0% 47 23.4% - - - - - NULL PTEN 5728 genome.wustl.edu 37 10 89692792 89692807 + Frame_Shift_Del DEL CCATAACCCACCACAG CCATAACCCACCACAG - novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 CCATAACCCACCACAG CCATAACCCACCACAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 ENST00000371953 +1 known p.H93fs 1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000 - - - - - - - - - HMMSmart_SM00404,superfamily_(Phosphotyrosine protein) phosphatases II O3FAR1 338557 genome.wustl.edu 37 10 95326931 95326931 + Missense_Mutation SNP C C T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_181745.2 +1 validated p.R152W 0.189 13 0% 19 36.8% - - probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like PLCE1 51196 genome.wustl.edu 37 10 96005987 96005987 + Missense_Mutation SNP C C T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_016341.3 +1 reviewed p.A902V 0.105 91 0% 178 27.5% - - possibly_damaging(0.825) tolerated(0.09) deleterious(0.609) NULL CRTAC1 55118 genome.wustl.edu 37 10 99667875 99667875 + Missense_Mutation SNP G G T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_018058.4 -1 validated p.L249I 1.000 36 0% 83 32.5% - - benign(0.101) tolerated(0.87) neutral(0.008) superfamily_Integrin alpha N-terminal domain LOXL4 84171 genome.wustl.edu 37 10 100012177 100012177 + Silent SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_032211.6 -1 reviewed p.L628 0.998 45 0% 107 26.2% - - - - - HMMPfam_Lysyl_oxidase PPRC1 23082 genome.wustl.edu 37 10 103900879 103900879 + Missense_Mutation SNP C C T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_015062.3 +1 reviewed p.P872S 0.003 67 0% 227 32.2% - - benign(0.231) deleterious(0.05) neutral(0.368) NULL CUEDC2 79004 genome.wustl.edu 37 10 104183303 104183303 + Silent SNP G G T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_024040.2 -1 validated p.I248 0.955 90 0% 475 27.6% - - - - - NULL SLK 9748 genome.wustl.edu 37 10 105768001 105768001 + Missense_Mutation SNP C C T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_014720.2 +1 provisional p.R891C 1.000 253 0% 435 31.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Protein kinase-like (PK-like) TDRD1 56165 genome.wustl.edu 37 10 115970387 115970387 + Missense_Mutation SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_198795.1 +1 reviewed p.V478I 0.000 84 0% 120 53.3% - - possibly_damaging(0.7) tolerated(0.36) neutral(0.272) NULL FGFR2 2263 genome.wustl.edu 37 10 123258034 123258034 + Missense_Mutation SNP A A T rs121913476 TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_022970.3 -1 reviewed p.N550K 1.000 44 0% 112 85.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like IKZF5 64376 genome.wustl.edu 37 10 124753658 124753658 + Missense_Mutation SNP C C T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_022466.5 -1 provisional p.V300I 0.979 124 0.8% 300 27% - - possibly_damaging(0.496) tolerated(0.5) neutral(0.176) NULL DPYSL4 10570 genome.wustl.edu 37 10 134006217 134006217 + Missense_Mutation SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_006426.2 +1 validated p.G62S 1.000 16 0% 23 52.2% - - benign(0.088) deleterious(0.05) neutral(0.352) superfamily_Composite domain of metallo-dependent hydrolases SCGB1C1 147199 genome.wustl.edu 37 11 193802 193802 + Missense_Mutation SNP C C T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_145651.2 +1 validated p.T49I 0.998 15 0% 30 20% - - benign(0.001) deleterious(0.03) neutral(0.364) HMMPfam_Uteroglobin,superfamily_Secretoglobin OR51G1 79324 genome.wustl.edu 37 11 4944961 4944961 + Missense_Mutation SNP A A C novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_001005237.1 -1 provisional p.F203L 0.589 94 0% 108 30.6% - - benign(0.334) tolerated(0.12) neutral(0.365) HMMPfam_7tm_1,superfamily_SSF81321 TRIM5 85363 genome.wustl.edu 37 11 5686388 5686388 + Missense_Mutation SNP C C T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_033034.2 -1 reviewed p.G378D 0.000 312 0% 658 36.5% - - probably_damaging(1) tolerated(0.42) deleterious(0.514) HMMPfam_SPRY,HMMSmart_SM00449 OR56A3 390083 genome.wustl.edu 37 11 5969494 5969494 + Silent SNP A A G novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_001003443.2 +1 provisional p.G306 0.001 121 0% 411 38.4% - - - - - superfamily_SSF81321 PDE3B 5140 genome.wustl.edu 37 11 14839826 14839826 + Silent SNP T T C novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_000922.3 +1 validated p.T540 1.000 118 0% 98 41.8% - - - - - NULL INSC 387755 genome.wustl.edu 37 11 15262064 15262064 + Missense_Mutation SNP T T C novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_001031853.3 +1 provisional p.C536R 1.000 51 0% 90 30% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_SM00185,superfamily_ARM repeat PIK3C2A 5286 genome.wustl.edu 37 11 17111313 17111313 + Missense_Mutation SNP T T C novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_002645.2 -1 validated p.Y1678C 1.000 185 0% 255 38.4% - - probably_damaging(0.979) deleterious(0) deleterious(0.867) superfamily_C2 domain (Calcium/lipid-binding domain CaLB) UEVLD 55293 genome.wustl.edu 37 11 18557990 18557992 + In_Frame_Del DEL CTT CTT - novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 CTT CTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_001040697.1 -1 validated p.E362in_frame_del 0.025:0.030:0.369 - - - - - - - - - superfamily_LDH C-terminal domain-like LIN7C 55327 genome.wustl.edu 37 11 27520276 27520276 + Nonsense_Mutation SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_018362.3 -1 validated p.R172* 0.982 149 0% 166 30.1% - - - - - HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like DCDC5 100506627 genome.wustl.edu 37 11 30953328 30953328 + Missense_Mutation SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 XM_002343054.1 -1 model p.R42W 0.010 88 0% 68 32.4% - - benign(0.002) deleterious(0.04) neutral(0.349) NULL ATG13 9776 genome.wustl.edu 37 11 46666923 46666923 + Missense_Mutation SNP A A G novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_001142673.1 +1 validated p.E35G 1.000 75 0% 107 38.3% - - possibly_damaging(0.568) deleterious(0) deleterious(0.639) HMMPfam_DUF2224 NDUFS3 4722 genome.wustl.edu 37 11 47603690 47603690 + Silent SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_004551.2 +1 reviewed p.K144 1.000 25 0% 137 42.3% - - - - - HMMPfam_Complex1_30kDa MS4A6E 245802 genome.wustl.edu 37 11 60105266 60105266 + Missense_Mutation SNP G G T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_139249.2 +1 reviewed p.G67V 0.006 199 0% 225 39.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_CD20 TMEM132A 54972 genome.wustl.edu 37 11 60695321 60695321 + Missense_Mutation SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_017870.3 +1 reviewed p.C175Y 1.000 7 0.000 10 0.600 - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL DDB1 1642 genome.wustl.edu 37 11 61076507 61076507 + Missense_Mutation SNP A A G novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_001923.3 -1 validated p.V870A 1.000 71 0% 174 40.2% - - benign(0.019) tolerated(0.14) neutral(0.251) HMMPfam_CPSF_A EEF1G 1937 genome.wustl.edu 37 11 62334327 62334327 + Silent SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_001404.4 -1 reviewed p.L270 0.718 54 0% 144 42.4% - - - - - NULL BSCL2 26580 genome.wustl.edu 37 11 62460253 62460253 + Missense_Mutation SNP C C T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_001122955.2 -1 reviewed p.R216H 1.000 63 0% 165 33.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Seipin TCIRG1 10312 genome.wustl.edu 37 11 67812508 67812508 + Silent SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_006019.2 +1 reviewed p.T368 0.046 19 0% 12 41.7% - - - - - HMMPfam_V_ATPase_I LOC100131539 100131539 genome.wustl.edu 37 11 71527678 71527678 + Silent SNP A A G novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 XM_001723234.2 -1 model p.S261 1.000 186 0% 484 40.5% - - - - - superfamily_C2H2 and C2HC zinc fingers INPPL1 3636 genome.wustl.edu 37 11 71941405 71941405 + Splice_Site SNP G G C novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_001567.3 +1 reviewed e10-1 1.000 12 0% 25 36% - - - - - - RELT 84957 genome.wustl.edu 37 11 73106160 73106160 + Silent SNP C C A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_032871.3 +1 reviewed p.R359 0.998 31 0% 33 36.4% - - - - - NULL GDPD5 81544 genome.wustl.edu 37 11 75152264 75152264 + Missense_Mutation SNP C C T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_030792.6 -1 validated p.V473I 0.998 9 0.000 32 0.375 - - probably_damaging(1) tolerated(0.09) deleterious(0.796) HMMPfam_GDPD,superfamily_PLC-like phosphodiesterases CAPN5 726 genome.wustl.edu 37 11 76831935 76831935 + Silent SNP T T C novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_004055.4 +1 reviewed p.T489 0.273 63 0% 105 39% - - - - - HMMPfam_Calpain_III,HMMSmart_calpain_III,superfamily_Peptidase_C2,superfamily_C2_CaLB TMEM135 65084 genome.wustl.edu 37 11 86749187 86749187 + Missense_Mutation SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_022918.3 +1 validated p.A34T 1.000 51 0% 59 47.5% - - possibly_damaging(0.605) tolerated(0.07) deleterious(0.528) NULL KBTBD3 143879 genome.wustl.edu 37 11 105924443 105924443 + Missense_Mutation SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_152433.3 -1 validated p.P325S 0.959 110 0% 137 38.7% - - benign(0) tolerated(0.11) neutral(0.272) superfamily_Galactose oxidase central domain CUL5 8065 genome.wustl.edu 37 11 107943190 107943191 + Splice_Site INS - - T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_003478.3 +1 validated e9+1 1.000:1.000 - - - - - - - - - - DIXDC1 85458 genome.wustl.edu 37 11 111866847 111866847 + Missense_Mutation SNP G G T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 ENST00000440460 +1 known p.R577L 1.000 57 0% 72 36.1% - - possibly_damaging(0.589) deleterious(0.01) deleterious(0.609) NULL SIK3 23387 genome.wustl.edu 37 11 116717201 116717201 + Missense_Mutation SNP A A G novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_025164.3 -1 validated p.S1235P 1.000 99 0% 192 38.5% - - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL DSCAML1 57453 genome.wustl.edu 37 11 117342724 117342724 + Missense_Mutation SNP C C T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_020693.2 -1 provisional p.R998H 0.991 90 0% 149 36.2% - - probably_damaging(0.993) deleterious(0.04) deleterious(0.799) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III TMEM25 84866 genome.wustl.edu 37 11 118403101 118403101 + Missense_Mutation SNP C C T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_032780.3 +1 validated p.H103Y 1.000 42 0% 93 14% - - probably_damaging(0.991) deleterious(0.03) deleterious(0.808) HMMPfam_C2-set_2,superfamily_Immunoglobulin CXCR5 643 genome.wustl.edu 37 11 118764728 118764728 + Missense_Mutation SNP C C T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_032966.1 +1 reviewed p.R114C 1.000 43 0% 75 45.3% - - probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMPfam_7tm_1,superfamily_SSF81321 C11orf63 79864 genome.wustl.edu 37 11 122774730 122774730 + Missense_Mutation SNP C C T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_024806.2 +1 validated p.P148S 0.004 98 0% 223 43.9% - - probably_damaging(0.978) deleterious(0) deleterious(0.865) NULL OR10G7 390265 genome.wustl.edu 37 11 123909032 123909032 + Missense_Mutation SNP C C T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_001004463.1 -1 provisional p.R226Q 0.057 185 0% 234 42.3% - - benign(0.012) tolerated(0.09) neutral(0.297) HMMPfam_7tm_1,superfamily_SSF81321 ROBO4 54538 genome.wustl.edu 37 11 124764160 124764160 + Nonsense_Mutation SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_019055.5 -1 validated p.Q419* 1.000 32 0% 53 45.3% - - - - - HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III DCPS 28960 genome.wustl.edu 37 11 126174172 126174172 + Missense_Mutation SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_014026.3 +1 validated p.G66E 1.000 23 0% 79 35.4% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_DcpS,superfamily_Scavenger_mRNA_decap_enz_N CACNA1C 775 genome.wustl.edu 37 12 2705142 2705142 + Silent SNP G G T rs184684058 by1000genomes TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_199460.2 +1 reviewed p.P922 0.008 62 0% 144 34.7% - - - - - superfamily_Voltage-gated potassium channels KCNA5 3741 genome.wustl.edu 37 12 5153841 5153843 + In_Frame_Del DEL CTA CTA - novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 CTA CTA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_002234.2 +1 reviewed p.Y179in_frame_del 1.000:1.000:1.000 - - - - - - - - - HMMSmart_SM00225,HMMPfam_K_tetra,superfamily_POZ domain VWF 7450 genome.wustl.edu 37 12 6080834 6080834 + Missense_Mutation SNP C C A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_000552.3 -1 reviewed p.R2493S 0.619 84 0% 155 36.8% - - benign(0.133) tolerated(0.23) neutral(0.053) HMMPfam_VWC,HMMSmart_SM00214,PatternScan_VWFC_1 CLSTN3 9746 genome.wustl.edu 37 12 7301713 7301713 + Missense_Mutation SNP C C A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_014718.3 +1 validated p.P665T 1.000 71 0% 103 36.9% - - benign(0.001) tolerated(0.9) - NULL PRB4 5545 genome.wustl.edu 37 12 11461656 11461656 + Silent SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_002723.3 -1 reviewed p.N87 0.001 1875 0.1% 2397 10.9% - - - - - NULL LRP6 4040 genome.wustl.edu 37 12 12274228 12274228 + Silent SNP A A G novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_002336.2 -1 reviewed p.S1558 1.000 182 0% 203 40.4% - - - - - NULL DENND5B 160518 genome.wustl.edu 37 12 31568374 31568374 + Missense_Mutation SNP C C T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_144973.3 -1 validated p.G827R 1.000 24 0% 25 20% - - probably_damaging(0.974) deleterious(0.03) deleterious(0.780) HMMPfam_RUN SYT10 341359 genome.wustl.edu 37 12 33535358 33535358 + Missense_Mutation SNP C C A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_198992.2 -1 provisional p.E432D 1.000 153 0% 216 42.1% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_C2,HMMSmart_C2,superfamily_C2_CaLB SLC2A13 114134 genome.wustl.edu 37 12 40345126 40345126 + Missense_Mutation SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_052885.3 -1 validated p.R323C 1.000 250 0% 180 37.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Sugar_tr,superfamily_MFS general substrate transporter IRAK4 51135 genome.wustl.edu 37 12 44166081 44166081 + Missense_Mutation SNP A A G novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_001114182.2 +1 reviewed p.T136A 0.000 99 0% 173 35.8% - - benign(0) tolerated(0.55) neutral(0.007) NULL BIN2 51411 genome.wustl.edu 37 12 51685722 51685722 + Nonsense_Mutation SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_016293.2 -1 validated p.R390* 0.977 37 0% 56 35.7% - - - - - NULL KRT85 3891 genome.wustl.edu 37 12 52757103 52757103 + Missense_Mutation SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_002283.3 -1 reviewed p.A293V 0.998 91 0% 200 32% - - benign(0.084) deleterious(0.02) neutral(0.389) HMMPfam_Filament AAAS 8086 genome.wustl.edu 37 12 53708533 53708533 + Splice_Site SNP A A G novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_015665.5 -1 reviewed e6+2 1.000 17 0% 35 42.9% - - - - - - NCKAP1L 3071 genome.wustl.edu 37 12 54913006 54913006 + Silent SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_005337.4 +1 reviewed p.L505 1.000 163 0% 310 47.4% - - - - - HMMPfam_Nckap1 DPY19L2 283417 genome.wustl.edu 37 12 63991612 63991612 + Missense_Mutation SNP C C T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_173812.4 -1 validated p.E480K 0.973 218 0% 176 42% - - probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_DUF2211 OTOGL 283310 genome.wustl.edu 37 12 80648313 80648313 + Silent SNP T T C novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 ENST00000455751 +1 known p.L151S 1.000 68 0% 46 32.6% - - - - - NULL PLXNC1 10154 genome.wustl.edu 37 12 94694765 94694765 + Missense_Mutation SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_005761.1 +1 provisional p.G1440S 0.974 153 0% 254 41.7% - - benign(0.197) tolerated(0.49) neutral(0.029) superfamily_Rho_GAP,HMMPfam_Plexin_cytopl SLC5A8 160728 genome.wustl.edu 37 12 101552082 101552082 + Missense_Mutation SNP G G T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_145913.3 -1 validated p.P552H 0.000 290 0% 218 42.2% - - benign(0) deleterious(0.02) neutral(0.383) NULL UTP20 27340 genome.wustl.edu 37 12 101776909 101776909 + Missense_Mutation SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_014503.2 +1 validated p.E2583K 0.791 169 0% 179 38% - - benign(0.002) tolerated(0.34) neutral(0.023) superfamily_ARM repeat SYCP3 50511 genome.wustl.edu 37 12 102122918 102122918 + Missense_Mutation SNP G G T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_153694.4 -1 reviewed p.A209D 0.982 118 0% 120 32.5% - - possibly_damaging(0.943) deleterious(0.02) deleterious(0.770) HMMPfam_Cor1 PARPBP 55010 genome.wustl.edu 37 12 102547674 102547674 + Frame_Shift_Del DEL A A - novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_017915.2 +1 predicted p.K58fs 0.384 - - - - - - - - - NULL STAB2 55576 genome.wustl.edu 37 12 104118825 104118825 + Missense_Mutation SNP C C T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_017564.9 +1 reviewed p.P1586S 0.084 415 0% 588 43.2% - - benign(0) tolerated(0.8) neutral(0.001) superfamily_BIgH3_FAS1,HMMSmart_EGF OAS3 4940 genome.wustl.edu 37 12 113384555 113384555 + Missense_Mutation SNP T T C novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_006187.2 +1 reviewed p.L215P 0.000 33 0% 47 36.2% - - benign(0) deleterious(0.04) neutral(0.349) HMMPfam_OAS1_C,superfamily_PAP/OAS1 substrate-binding domain TAOK3 51347 genome.wustl.edu 37 12 118693338 118693338 + Missense_Mutation SNP G G A rs78662524 byCluster;byFrequency TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_016281.3 -1 validated p.A12V 1.000 167 0% 230 40.4% - - probably_damaging(0.982) deleterious(0) deleterious(0.871) NULL PXN 5829 genome.wustl.edu 37 12 120650354 120650354 + Silent SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_001080855.1 -1 validated p.S513 1.000 21 0% 32 43.8% - - - - - HMMPfam_LIM,HMMSmart_SM00132,superfamily_Glucocorticoid receptor-like (DNA-binding domain) EP400 57634 genome.wustl.edu 37 12 132446454 132446454 + Silent SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_015409.3 +1 validated p.E430 0.999 53 0% 94 47.9% - - - - - NULL POLE 5426 genome.wustl.edu 37 12 133218842 133218842 + Missense_Mutation SNP C C A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_006231.2 -1 validated p.E1698D 1.000 33 0% 69 13% - - probably_damaging(0.994) deleterious(0.05) deleterious(0.797) HMMPfam_DUF1744 TUBA3C 7278 genome.wustl.edu 37 13 19753563 19753563 + Silent SNP G G T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_006001.1 -1 reviewed p.S48 0.998 73 0% 114 36% - - - - - HMMPfam_Tubulin,superfamily_Tubulin nucleotide-binding domain-like SHISA2 387914 genome.wustl.edu 37 13 26621051 26621051 + Missense_Mutation SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_001007538.1 -1 provisional p.T163I 1.000 41 0% 45 35.6% - - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL HSPH1 10808 genome.wustl.edu 37 13 31713012 31713012 + Missense_Mutation SNP C C T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_006644.2 -1 validated p.R705Q 0.969 183 0% 179 40.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HSP70,superfamily_Heat shock protein 70kD (HSP70) C-terminal subdomain NBEA 26960 genome.wustl.edu 37 13 36167570 36167570 + Missense_Mutation SNP A A G novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_015678.4 +1 validated p.T2428A 1.000 160 0% 187 35.3% - - benign(0.028) deleterious(0.01) neutral(0.407) HMMPfam_Beach,superfamily_BEACH domain,superfamily_ARM repeat DCLK1 9201 genome.wustl.edu 37 13 36384987 36384987 + Missense_Mutation SNP A A G novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_004734.3 -1 validated p.I558T 1.000 285 0% 316 40.5% - - probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase POSTN 10631 genome.wustl.edu 37 13 38158939 38158939 + Missense_Mutation SNP T T C novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_006475.2 -1 validated p.N341S 1.000 69 0% 88 34.1% - - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_Fasciclin,HMMSmart_SM00554,superfamily_FAS1 domain SLC25A15 10166 genome.wustl.edu 37 13 41379378 41379378 + Missense_Mutation SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_014252.3 +1 reviewed p.A147T 0.083 72 0% 97 37.1% - - benign(0.001) tolerated(0.26) neutral(0.034) superfamily_Mitochondrial carrier,HMMPfam_Mito_carr NUFIP1 26747 genome.wustl.edu 37 13 45554910 45554910 + Missense_Mutation SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_012345.2 -1 validated p.R181C 1.000 139 0% 146 43.2% - - probably_damaging(1) deleterious(0.02) deleterious(0.883) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2 NEK3 4752 genome.wustl.edu 37 13 52722555 52722555 + Missense_Mutation SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 ENST00000258597 -1 known p.H200Y 1.000 313 0% 560 40.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase TDRD3 81550 genome.wustl.edu 37 13 61102730 61102730 + Silent SNP T T C novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_030794.2 +1 validated p.S364 1.000 143 0% 150 42% - - - - - NULL DIS3 22894 genome.wustl.edu 37 13 73337628 73337628 + Silent SNP T T C novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_014953.3 -1 validated p.P696 0.913 249 0% 197 36.5% - - - - - HMMPfam_RNB EDNRB 1910 genome.wustl.edu 37 13 78475281 78475281 + Missense_Mutation SNP A A G novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_000115.2 -1 reviewed p.I288T 1.000 152 0% 127 36.2% - - benign(0.099) deleterious(0.03) neutral(0.372) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like RBM26 64062 genome.wustl.edu 37 13 79952962 79952962 + Missense_Mutation SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_022118.3 -1 validated p.A51V 1.000 70 0% 51 13.7% - - unknown(0) tolerated(0.05) - superfamily_SSF101233 EFS 10278 genome.wustl.edu 37 14 23829014 23829014 + Nonsense_Mutation SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_005864.2 -1 reviewed p.R225* 1.000 35 0% 49 40.8% - - - - - NULL PRPF39 55015 genome.wustl.edu 37 14 45577689 45577689 + Silent SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_017922.3 +1 validated p.E325 0.941 163 0% 157 31.8% - - - - - superfamily_TPR-like SIX1 6495 genome.wustl.edu 37 14 61115717 61115717 + Missense_Mutation SNP C C T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_005982.3 -1 reviewed p.R64H 1.000 67 0% 99 43.4% - - benign(0.308) tolerated(0.15) neutral(0.337) NULL SYNE2 23224 genome.wustl.edu 37 14 64483196 64483196 + Silent SNP A A G novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_182914.2 +1 reviewed p.E1578 0.979 40 0% 16 56.2% - - - - - superfamily_Spectrin LOC100287214 100287214 genome.wustl.edu 37 14 65008065 65008065 + Missense_Mutation SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 XM_002343281.1 -1 model p.R377C 0.244 28 0% 43 27.9% - - - - - HMMPfam_NAD-GH SPTB 6710 genome.wustl.edu 37 14 65216716 65216718 + In_Frame_Del DEL CTT CTT - novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 CTT CTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_001024858.2 -1 reviewed p.K2253in_frame_del 0.998:1.000:1.000 - - - - - - - - - HMMPfam_PH,HMMSmart_PH,HMMSmart_SPEC,superfamily_SSF50729 SLC39A9 55334 genome.wustl.edu 37 14 69866098 69866098 + Silent SNP C C T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_018375.3 +1 validated p.F4 0.997 48 0% 58 19% - - - - - HMMPfam_Zip SAMD15 161394 genome.wustl.edu 37 14 77844063 77844063 + Missense_Mutation SNP C C A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_001010860.1 +1 provisional p.P101Q 0.336 354 0% 828 40.2% - - probably_damaging(0.988) tolerated(0.44) neutral(0.450) NULL RPS6KA5 9252 genome.wustl.edu 37 14 91356847 91356847 + Missense_Mutation SNP C C G novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_004755.2 -1 validated p.S607T 1.000 80 0% 100 31% - - possibly_damaging(0.728) deleterious(0.02) deleterious(0.648) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase CCNK 8812 genome.wustl.edu 37 14 99973474 99973474 + Frame_Shift_Del DEL C C - novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_001099402.1 +1 reviewed p.P370fs 1.000 - - - - - - - - - NULL DYNC1H1 1778 genome.wustl.edu 37 14 102500711 102500711 + Missense_Mutation SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_001376.4 +1 reviewed p.R3559H 1.000 51 0% 73 37% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL C15orf2 23742 genome.wustl.edu 37 15 24923810 24923810 + Silent SNP A A G novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_018958.2 +1 reviewed p.S932 0.001 82 0% 108 40.7% - - - - - NULL GABRA5 2558 genome.wustl.edu 37 15 27193366 27193366 + Missense_Mutation SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_000810.3 +1 reviewed p.A459T 0.001 52 0% 81 46.9% - - benign(0.004) tolerated(1) - NULL RYR3 6263 genome.wustl.edu 37 15 33954455 33954455 + Missense_Mutation SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_001036.3 +1 validated p.R1575H 1.000 14 0% 32 43.8% - - probably_damaging(0.999) - - NULL PLCB2 5330 genome.wustl.edu 37 15 40591350 40591350 + Missense_Mutation SNP A A G novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_004573.2 -1 validated p.I221T 1.000 28 0% 122 34.4% - - probably_damaging(0.987) deleterious(0) deleterious(0.881) HMMPfam_efhand_like,superfamily_EF-hand BAHD1 22893 genome.wustl.edu 37 15 40758262 40758262 + Missense_Mutation SNP A A T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_014952.3 +1 validated p.E759V 1.000 43 0% 52 30.8% - - probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMSmart_SM00439 NDUFAF1 51103 genome.wustl.edu 37 15 41687085 41687085 + Missense_Mutation SNP C C T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_016013.2 -1 validated p.R244H 1.000 44 0% 164 33.5% - - probably_damaging(1) tolerated(0.13) deleterious(0.752) HMMPfam_CIA30 MYO5C 55930 genome.wustl.edu 37 15 52517648 52517648 + Missense_Mutation SNP G G A rs150088325 by1000genomes TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_018728.2 -1 validated p.R1097W 1.000 143 0% 180 39.4% - - probably_damaging(0.977) deleterious(0.02) deleterious(0.802) NULL ONECUT1 3175 genome.wustl.edu 37 15 53081129 53081129 + Missense_Mutation SNP C C A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_004498.1 -1 provisional p.R318M 1.000 36 0% 36 36.1% - - probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMPfam_CUT MYO1E 4643 genome.wustl.edu 37 15 59516939 59516939 + Silent SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_004998.2 -1 validated p.G242 0.277 113 0% 174 39.7% - - - - - HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases DPP8 54878 genome.wustl.edu 37 15 65792980 65792980 + Silent SNP A A G novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_197960.2 -1 reviewed p.I186 1.000 190 0% 307 43% - - - - - HMMPfam_DPPIV_N,superfamily_Dipeptidyl peptidase IV/CD26 N-terminal domain MYO9A 4649 genome.wustl.edu 37 15 72300274 72300274 + Missense_Mutation SNP C C T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_006901.2 -1 validated p.A425T 1.000 177 0.6% 217 41.9% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases ARIH1 25820 genome.wustl.edu 37 15 72853831 72853831 + Missense_Mutation SNP A A G novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_005744.3 +1 validated p.I249V 1.000 125 0% 67 40.3% - - benign(0.006) tolerated(0.64) neutral(0.003) superfamily_RING/U-box ISLR2 57611 genome.wustl.edu 37 15 74425729 74425729 + Missense_Mutation SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_001130136.1 +1 validated p.A212T 1.000 54 0% 46 23.9% - - benign(0) tolerated(0.15) neutral(0.241) HMMPfam_LRRCT,HMMSmart_LRRCT,superfamily_SSF52058 SGK269 79834 genome.wustl.edu 37 15 77471276 77471276 + Missense_Mutation SNP C C T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_024776.2 -1 validated p.G998D 0.178 100 0% 160 41.9% - - benign(0.218) deleterious(0.01) neutral(0.427) NULL TBC1D2B 23102 genome.wustl.edu 37 15 78317661 78317661 + Silent SNP C C T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 ENST00000418039 -1 known p.C224Y 0.989 127 0% 146 43.2% - - - - - NULL ARNT2 9915 genome.wustl.edu 37 15 80872805 80872805 + Missense_Mutation SNP C C T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_014862.3 +1 reviewed p.T556M 0.267 51 0% 149 39.6% - - possibly_damaging(0.86) deleterious(0) deleterious(0.777) NULL IL16 3603 genome.wustl.edu 37 15 81561924 81561924 + Nonsense_Mutation SNP C C T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_172217.3 +1 reviewed p.Q204* 0.899 128 0% 155 40% - - - - - superfamily_PDZ domain-like ALPK3 57538 genome.wustl.edu 37 15 85400327 85400327 + Silent SNP T T C novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_020778.4 +1 validated p.H988 0.000 150 0% 119 35.3% - - - - - NULL CRTC3 64784 genome.wustl.edu 37 15 91172638 91172638 + Silent SNP C C T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_022769.3 +1 validated p.S380 0.027 195 0% 377 38.7% - - - - - NULL UNC45A 55898 genome.wustl.edu 37 15 91485935 91485935 + Missense_Mutation SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 ENST00000454296 +1 known p.C319Y 0.000 6 0.000 42 0.452 - - - - - NULL SYNM 23336 genome.wustl.edu 37 15 99673230 99673230 + Silent SNP T T C novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_145728.2 +1 reviewed p.M1555T 0.083 69 0% 109 36.7% - - - - - NULL TELO2 9894 genome.wustl.edu 37 16 1544359 1544359 + Missense_Mutation SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_016111.3 +1 reviewed p.G26D 0.000 39 0% 62 37.1% - - benign(0.012) tolerated(0.56) neutral(0.007) NULL MYH11 4629 genome.wustl.edu 37 16 15818054 15818054 + Silent SNP C C T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_001040114.1 -1 reviewed p.V1450 1.000 71 0% 94 41.5% - - - - - HMMPfam_Myosin_tail_1 C16orf88 400506 genome.wustl.edu 37 16 19718307 19718307 + Silent SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_001012991.2 -1 provisional p.L434 0.987 136 0% 159 42.1% - - - - - NULL PDILT 204474 genome.wustl.edu 37 16 20380840 20380840 + Missense_Mutation SNP G G A rs191618493 by1000genomes TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_174924.1 -1 provisional p.R364C 0.000 259 0% 371 39.1% - - probably_damaging(0.994) deleterious(0.02) deleterious(0.835) superfamily_Thiordxn-like_fd VWA3A 146177 genome.wustl.edu 37 16 22144393 22144393 + Missense_Mutation SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_173615.3 +1 validated p.R682H 1.000 38 0% 82 47.6% - - probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL XPO6 23214 genome.wustl.edu 37 16 28124346 28124346 + Missense_Mutation SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_015171.2 -1 provisional p.A677V 1.000 30 0% 44 34.1% - - possibly_damaging(0.879) deleterious(0.01) deleterious(0.748) superfamily_ARM repeat MAPK3 5595 genome.wustl.edu 37 16 30133247 30133247 + Missense_Mutation SNP C C T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_002746.2 -1 reviewed p.R84H 1.000 19 0% 69 44.9% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_MAPK,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase ABCC11 85320 genome.wustl.edu 37 16 48210843 48210843 + Missense_Mutation SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_032583.3 -1 reviewed p.T1177M 0.987 29 0% 46 34.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases MT1CP 441771 genome.wustl.edu 37 16 56683384 56683384 + Silent SNP C C T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 ENST00000379816 +1 known p.C39 0.017 76 0% 147 36.1% - - - - - HMMPfam_Metallothio,superfamily_Metallothionein CETP 1071 genome.wustl.edu 37 16 57012039 57012039 + Missense_Mutation SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_000078.2 +1 reviewed p.V340I 0.017 71 0% 78 41% - - benign(0.31) tolerated(0.21) neutral(0.141) HMMPfam_LBP_BPI_CETP_C,HMMSmart_SM00329,superfamily_Bactericidal permeability-increasing protein BPI FHOD1 29109 genome.wustl.edu 37 16 67268325 67268325 + Missense_Mutation SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_013241.2 -1 reviewed p.A457V 0.896 10 0% 12 33.3% - - probably_damaging(0.979) deleterious(0.01) deleterious(0.828) NULL SLC9A5 6553 genome.wustl.edu 37 16 67293776 67293776 + Missense_Mutation SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_004594.2 +1 validated p.R590H 1.000 8 0.000 30 0.233 - - probably_damaging(0.988) tolerated(0.12) deleterious(0.698) NULL CTCF 10664 genome.wustl.edu 37 16 67644949 67644949 + Nonsense_Mutation SNP C C T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_006565.2 +1 reviewed p.Q72* 1.000 98 0% 180 40.6% - - - - - NULL FUK 197258 genome.wustl.edu 37 16 70502792 70502792 + Missense_Mutation SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_145059.2 +1 reviewed p.R235H 0.988 32 0% 53 43.4% - - benign(0.002) tolerated(0.3) neutral(0.029) HMMPfam_Fucokinase BCAR1 9564 genome.wustl.edu 37 16 75276447 75276447 + Missense_Mutation SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_014567.3 -1 validated p.A185V 1.000 7 0.000 26 0.269 - - benign(0.025) tolerated(0.54) neutral(0.009) NULL WWOX 51741 genome.wustl.edu 37 16 78458938 78458938 + Missense_Mutation SNP C C A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 ENST00000299644 +1 known p.P87H 0.994 205 0% 316 39.9% - - benign(0.04) deleterious(0) neutral(0.447) NULL PLCG2 5336 genome.wustl.edu 37 16 81946260 81946260 + Silent SNP C C A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_002661.2 +1 validated p.R665 1.000 14 0% 22 50% - - - - - HMMPfam_SH2,HMMSmart_SH2,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_SSF50729,superfamily_SSF55550 VPS53 55275 genome.wustl.edu 37 17 440305 440305 + Missense_Mutation SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_001128159.1 -1 reviewed p.R660C 0.993 65 0% 139 41.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL CYB5D2 124936 genome.wustl.edu 37 17 4046824 4046826 + RNA DEL AAA AAA - rs71383524 byCluster TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 AAA AAA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NR_023346.1 +1 validated NULL 0.028:0.028:0.027 - - - - - - - - - - GGT6 124975 genome.wustl.edu 37 17 4462857 4462858 + Frame_Shift_Ins INS - - G novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_001122890.1 -1 validated p.A114fs 0.915:0.991 - - - - - - - - - NULL NUP88 4927 genome.wustl.edu 37 17 5319923 5319923 + Missense_Mutation SNP A A G novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_002532.3 -1 reviewed p.I126T 0.973 71 0% 52 42.3% - - possibly_damaging(0.561) tolerated(0.06) deleterious(0.514) HMMPfam_Nup88 NLRP1 22861 genome.wustl.edu 37 17 5425026 5425026 + Nonsense_Mutation SNP C C A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_033004.3 -1 reviewed p.E1201* 0.953 81 0% 66 34.8% - - - - - NULL CHD3 1107 genome.wustl.edu 37 17 7809937 7809937 + Silent SNP C C T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_001005271.2 +1 reviewed p.A1534 0.343 145 0% 432 36.6% - - - - - HMMPfam_DUF1086 PFAS 5198 genome.wustl.edu 37 17 8166304 8166304 + Missense_Mutation SNP C C A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_012393.2 +1 reviewed p.S468Y 1.000 116 0% 151 40.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_AIRS_C,superfamily_PurM C-terminal domain-like DHRS7C 201140 genome.wustl.edu 37 17 9674948 9674948 + Missense_Mutation SNP C C T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_001105571.1 -1 validated p.V265M 0.974 19 0% 18 61.1% - - possibly_damaging(0.947) deleterious(0) deleterious(0.835) superfamily_NAD(P)-binding Rossmann-fold domains MYH13 8735 genome.wustl.edu 37 17 10243693 10243693 + Silent SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_003802.2 -1 validated p.G640 0.728 69 0% 148 34.5% - - - - - HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases MYH3 4621 genome.wustl.edu 37 17 10533659 10533659 + Silent SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_002470.2 -1 reviewed p.A1801 0.037 183 0% 254 35.8% - - - - - HMMPfam_Myosin_tail_1 NCOR1 9611 genome.wustl.edu 37 17 15965542 15965542 + Missense_Mutation SNP C C T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_006311.2 -1 reviewed p.R1755H 1.000 124 0% 281 43.4% - - probably_damaging(1) tolerated(0.73) deleterious(0.501) NULL KSR1 8844 genome.wustl.edu 37 17 25937121 25937121 + Missense_Mutation SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_014238.1 +1 validated p.D637N 1.000 64 1.6% 90 30% - - benign(0.327) tolerated(0.26) neutral(0.137) HMMPfam_Pkinase_Tyr,superfamily_Kinase_like NSRP1 84081 genome.wustl.edu 37 17 28506314 28506314 + Missense_Mutation SNP A A C novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_032141.2 +1 validated p.E169D 1.000 68 0% 88 44.3% - - probably_damaging(0.993) tolerated(0.19) deleterious(0.499) HMMPfam_DUF2040 TMEM132E 124842 genome.wustl.edu 37 17 32959866 32959866 + Silent SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_207313.1 +1 provisional p.E452 1.000 135 0% 128 31.2% - - - - - NULL STARD3 10948 genome.wustl.edu 37 17 37817122 37817122 + Silent SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_006804.3 +1 reviewed p.A338 0.374 38 0% 54 37% - - - - - HMMPfam_START,HMMSmart_START,superfamily_SSF55961 WNT3 7473 genome.wustl.edu 37 17 44846112 44846112 + Silent SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_030753.3 -1 reviewed p.S214 1.000 18 0% 23 52.2% - - - - - HMMPfam_wnt,HMMSmart_WNT1,PatternScan_WNT1 HOXB3 3213 genome.wustl.edu 37 17 46629585 46629585 + Silent SNP C C A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_002146.4 -1 reviewed p.S84 0.358 29 0% 75 45.3% - - - - - NULL B4GALNT2 124872 genome.wustl.edu 37 17 47243581 47243581 + Silent SNP C C T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_153446.2 +1 validated p.L414 0.943 36 0% 63 36.5% - - - - - HMMPfam_Glycos_transf_2,superfamily_Nucleotide-diphospho-sugar transferases EME1 146956 genome.wustl.edu 37 17 48456503 48456503 + Missense_Mutation SNP C C A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_152463.2 +1 reviewed p.A383E 0.000 51 0% 106 37.7% - - benign(0.086) tolerated(0.52) neutral(0.015) HMMPfam_ERCC4 RNF43 54894 genome.wustl.edu 37 17 56448393 56448393 + Missense_Mutation SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_017763.4 -1 validated p.S85F 1.000 56 0% 126 39.7% - - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL APPBP2 10513 genome.wustl.edu 37 17 58543807 58543807 + Nonsense_Mutation SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_006380.2 -1 reviewed p.R173* 0.998 93 0% 139 37.4% - - - - - superfamily_TPR-like DCAF7 10238 genome.wustl.edu 37 17 61662602 61662602 + Silent SNP C C T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 ENST00000310827 +1 known p.C256 1.000 185 0% 234 35% - - - - - HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 DDX42 11325 genome.wustl.edu 37 17 61895519 61895519 + Missense_Mutation SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_007372.2 +1 reviewed p.G860R 1.000 118 0% 271 35.8% - - benign(0.085) deleterious(0) neutral(0.451) NULL TEX2 55852 genome.wustl.edu 37 17 62290718 62290718 + Missense_Mutation SNP A A T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_018469.3 -1 validated p.I287N 1.000 64 0% 104 45.2% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) NULL GNA13 10672 genome.wustl.edu 37 17 63010381 63010381 + Silent SNP T T C novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_006572.4 -1 validated p.L376 0.326 84 0% 125 39.2% - - - - - HMMPfam_G-alpha,HMMSmart_SM00275 HELZ 9931 genome.wustl.edu 37 17 65103769 65103769 + Missense_Mutation SNP C C T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_014877.3 -1 validated p.R1586H 1.000 189 0% 243 41.6% - - unknown(0) tolerated(0.29) - NULL MAP2K6 5608 genome.wustl.edu 37 17 67515538 67515538 + Missense_Mutation SNP T T A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_002758.3 +1 reviewed p.F111I 0.992 131 0% 246 44.3% - - benign(0.08) deleterious(0.03) neutral(0.370) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase C17orf28 283987 genome.wustl.edu 37 17 72958421 72958421 + Silent SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_030630.2 -1 validated p.D173 0.951 12 0% 15 40% - - unknown(0) - - HMMPfam_Hid1 EVPL 2125 genome.wustl.edu 37 17 74004955 74004955 + Missense_Mutation SNP A A G novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_001988.2 -1 validated p.L1444S 0.084 100 0% 201 32.3% - - benign(0.35) tolerated(0.68) neutral(0.113) NULL QRICH2 84074 genome.wustl.edu 37 17 74276134 74276134 + Silent SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_032134.1 -1 provisional p.D1410 0.789 9 0.000 22 0.364 - - - - - NULL SEPT9 10801 genome.wustl.edu 37 17 75488708 75488708 + Silent SNP C C T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_001113491.1 +1 reviewed p.T462 0.109 74 0% 109 33.9% - - - - - HMMPfam_Septin,superfamily_P-loop containing nucleoside triphosphate hydrolases C17orf62 79415 genome.wustl.edu 37 17 80401790 80401790 + Missense_Mutation SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 ENST00000342572 -1 known p.P74L 0.000 22 0% 34 26.5% - - probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL ZNF750 79755 genome.wustl.edu 37 17 80789050 80789050 + Silent SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_024702.2 -1 reviewed p.C427 0.000 69 0% 84 42.9% - - - - - NULL ENSG00000173213 0 genome.wustl.edu 37 18 48973 48973 + Missense_Mutation SNP C C T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 ENST00000308911 -1 known p.G82R 1.000 62 1.6% 31 25.8% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Tubulin,superfamily_Tubulin_FtsZ L3MBTL4 91133 genome.wustl.edu 37 18 6239789 6239789 + Missense_Mutation SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_173464.3 -1 validated p.A212V 1.000 168 0% 286 42.3% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_MBT,HMMSmart_MBT,superfamily_SSF63748 RAB31 11031 genome.wustl.edu 37 18 9775346 9775346 + Silent SNP T T C novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_006868.3 +1 validated p.P37 0.432 62 0% 87 44.8% - - - - - HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases SPIRE1 56907 genome.wustl.edu 37 18 12493161 12493161 + Missense_Mutation SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_001128626.1 -1 validated p.R367W 1.000 112 0% 119 31.1% - - probably_damaging(0.998) deleterious(0.02) deleterious(0.857) NULL DSG1 1828 genome.wustl.edu 37 18 28923907 28923907 + Missense_Mutation SNP C C T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_001942.2 +1 reviewed p.P614S 0.096 136 0% 141 39.7% - - probably_damaging(0.998) deleterious(0.05) deleterious(0.820) NULL ZSCAN30 100101467 genome.wustl.edu 37 18 32834369 32834369 + Silent SNP A A G novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 ENST00000360932 -1 known p.L115 0.000 82 0% 163 37.4% - - - - - NULL ZNF532 55205 genome.wustl.edu 37 18 56585565 56585565 + Missense_Mutation SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_018181.4 +1 validated p.A16T 1.000 187 0% 318 42.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL CDH7 1005 genome.wustl.edu 37 18 63548090 63548090 + Missense_Mutation SNP C C T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_004361.2 +1 reviewed p.A773V 1.000 156 0% 168 35.7% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Cadherin_C PTPRS 5802 genome.wustl.edu 37 19 5245953 5245953 + Silent SNP T T C novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_002850.3 -1 reviewed p.P274 0.056 9 0.000 26 0.308 - - - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin FBN3 84467 genome.wustl.edu 37 19 8159407 8159407 + Missense_Mutation SNP C C T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_032447.3 -1 reviewed p.G1943D 1.000 28 0% 76 48.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00179,HMMSmart_SM00181,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_EGF/Laminin ACTL9 284382 genome.wustl.edu 37 19 8808365 8808365 + Silent SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_178525.3 -1 validated p.T229 0.247 35 0% 63 34.9% - - - - - HMMPfam_Actin,HMMSmart_SM00268,superfamily_Actin-like ATPase domain MUC16 94025 genome.wustl.edu 37 19 9090749 9090749 + Missense_Mutation SNP A A G novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_024690.2 -1 validated p.S356P 0.003 158 0% 272 37.9% - - unknown(0) - - NULL ZNF266 10781 genome.wustl.edu 37 19 9524140 9524140 + Silent SNP A A G novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_006631.2 -1 validated p.T487 1.000 117 0% 190 34.7% - - - - - superfamily_SSF57667 COL5A3 50509 genome.wustl.edu 37 19 10116374 10116374 + Missense_Mutation SNP C C T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_015719.3 -1 reviewed p.V152I 0.490 37 0% 75 40% - - unknown(0) tolerated(0.47) - HMMSmart_SM00210,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2 PPAN-P2RY11 692312 genome.wustl.edu 37 19 10218210 10218210 + Silent SNP C C T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_001040664.1 +1 validated p.C73 0.708 42 0% 116 39.7% - - - - - HMMPfam_Brix DNMT1 1786 genome.wustl.edu 37 19 10254615 10254615 + Missense_Mutation SNP A A T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_001130823.1 -1 reviewed p.D981E 0.341 74 0% 118 40.7% - - probably_damaging(0.97) tolerated(0.12) deleterious(0.673) HMMSmart_SM00439 ZNF700 90592 genome.wustl.edu 37 19 12060678 12060678 + Silent SNP T T C novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_144566.1 +1 provisional p.T613 0.070 164 0% 354 33.9% - - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers TNPO2 30000 genome.wustl.edu 37 19 12826484 12826484 + Missense_Mutation SNP C C T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_001136196.1 -1 validated p.C132Y 1.000 6 0.000 20 0.450 - - possibly_damaging(0.574) tolerated(0.35) neutral(0.217) HMMPfam_HEAT,superfamily_ARM repeat CCDC130 81576 genome.wustl.edu 37 19 13868259 13868259 + Silent SNP C C T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_030818.2 +1 provisional p.C56 0.929 19 0% 61 37.7% - - - - - HMMPfam_DUF572 PRKACA 5566 genome.wustl.edu 37 19 14208459 14208459 + Frame_Shift_Del DEL C C - novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_002730.3 -1 reviewed p.V192fs 1.000 - - - - - - - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase SUGP2 10147 genome.wustl.edu 37 19 19112442 19112442 + Missense_Mutation SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_001017392.3 -1 reviewed p.R991C 0.981 77 0% 146 45.9% - - possibly_damaging(0.845) tolerated(0.14) deleterious(0.574) NULL ZNF14 7561 genome.wustl.edu 37 19 19822668 19822668 + Silent SNP G G T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_021030.2 -1 reviewed p.P474 0.717 173 0% 330 37% - - - - - superfamily_SSF57667 ZNF675 171392 genome.wustl.edu 37 19 23836381 23836381 + Missense_Mutation SNP A A G novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_138330.2 -1 validated p.Y452H 0.667 157 0% 218 33.9% - - possibly_damaging(0.835) deleterious(0.02) deleterious(0.702) HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers RHPN2 85415 genome.wustl.edu 37 19 33481443 33481443 + Missense_Mutation SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_033103.4 -1 reviewed p.L593F 1.000 27 0% 87 41.4% - - possibly_damaging(0.664) tolerated(0.17) neutral(0.294) HMMSmart_PDZ,superfamily_PDZ NPHS1 4868 genome.wustl.edu 37 19 36339986 36339986 + Silent SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_004646.3 -1 reviewed p.L302 0.233 34 0% 82 34.1% - - - - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_C2-set_2,superfamily_Immunoglobulin RYR1 6261 genome.wustl.edu 37 19 38957024 38957024 + Missense_Mutation SNP C C A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_000540.2 +1 reviewed p.P1055H 1.000 13 0% 39 23.1% - - probably_damaging(0.999) - - HMMPfam_RyR FCGBP 8857 genome.wustl.edu 37 19 40392668 40392668 + Silent SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_003890.2 -1 validated p.N2612 0.002 30 0% 50 38% - - - - - NULL ZNF574 64763 genome.wustl.edu 37 19 42583383 42583383 + Missense_Mutation SNP G G A rs111308949 TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_022752.5 +1 validated p.V209M 1.000 188 0% 288 42% - - possibly_damaging(0.819) tolerated(0.13) deleterious(0.562) superfamily_C2H2 and C2HC zinc fingers ZNF155 7711 genome.wustl.edu 37 19 44501161 44501161 + Silent SNP C C T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_003445.2 +1 validated p.S384 0.000 339 0% 467 38.8% - - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers GEMIN7 79760 genome.wustl.edu 37 19 45593596 45593596 + Missense_Mutation SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_001007269.1 +1 reviewed p.G75D 0.997 25 0% 68 32.4% - - probably_damaging(0.996) tolerated(0.41) deleterious(0.477) NULL VASP 7408 genome.wustl.edu 37 19 46021019 46021019 + Missense_Mutation SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_003370.3 +1 reviewed p.R35H 0.997 23 0% 38 31.6% - - unknown(0) deleterious(0) - HMMPfam_WH1,superfamily_SSF50729 ENSG00000171101 0 genome.wustl.edu 37 19 51671524 51671524 + Silent SNP C C T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 ENST00000341811 +1 known p.I175 0.002 49 0% 96 39.6% - - - - - HMMPfam_ig,superfamily_SSF48726 LOC388559 388559 genome.wustl.edu 37 19 53409851 53409851 + Missense_Mutation SNP T T A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 XM_496322.5 -1 model p.E557V 1.000 137 0% 239 36.4% - - - - - superfamily_C2H2 and C2HC zinc fingers LENG1 79165 genome.wustl.edu 37 19 54662110 54662110 + Silent SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_024316.1 -1 provisional p.G74 1.000 95 0% 108 37% - - - - - NULL LILRA5 353514 genome.wustl.edu 37 19 54818783 54818783 + Missense_Mutation SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_021250.2 -1 reviewed p.A272V 0.043 61 0% 152 38.2% - - benign(0.025) deleterious(0) neutral(0.446) NULL NLRP7 199713 genome.wustl.edu 37 19 55450857 55450857 + Missense_Mutation SNP C C T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_001127255.1 -1 reviewed p.D444N 0.000 53 0% 105 27.6% - - possibly_damaging(0.819) tolerated(0.2) neutral(0.358) NULL EPN1 29924 genome.wustl.edu 37 19 56206308 56206308 + Missense_Mutation SNP C C T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_001130071.1 +1 validated p.T580M 0.006 5 0.000 9 0.444 - - probably_damaging(0.998) tolerated(0.07) deleterious(0.793) NULL ZSCAN5B 342933 genome.wustl.edu 37 19 56701373 56701373 + Silent SNP C C T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_001080456.2 -1 validated p.R437 0.984 80 1.3% 228 40.8% - - - - - superfamily_SSF57667 ZNF416 55659 genome.wustl.edu 37 19 58084966 58084966 + Silent SNP C C T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_017879.1 -1 provisional p.K102 0.001 91 0% 225 42.2% - - - - - NULL ZBTB45 84878 genome.wustl.edu 37 19 59028440 59028440 + Missense_Mutation SNP C C T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_032792.2 -1 provisional p.A201T 0.000 36 0% 53 32.1% - - benign(0.135) tolerated(0.14) neutral(0.261) NULL SMOX 54498 genome.wustl.edu 37 20 4163060 4163060 + Missense_Mutation SNP T T C novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_175839.1 +1 reviewed p.S312P 1.000 56 0% 76 11.8% - - benign(0) tolerated(0.97) - HMMPfam_Amino_oxidase,superfamily_FAD/NAD(P)-binding domain RBL1 5933 genome.wustl.edu 37 20 35632107 35632107 + Missense_Mutation SNP T T C novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_002895.2 -1 reviewed p.K1012E 1.000 21 0% 24 33.3% - - possibly_damaging(0.51) deleterious(0.02) deleterious(0.554) NULL DHX35 60625 genome.wustl.edu 37 20 37659376 37659376 + Missense_Mutation SNP T T C novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_021931.2 +1 reviewed p.I638T 1.000 100 0% 137 39.4% - - probably_damaging(0.969) deleterious(0.04) deleterious(0.760) HMMPfam_DUF1605 ZHX3 23051 genome.wustl.edu 37 20 39831165 39831165 + Missense_Mutation SNP T T C novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_015035.3 -1 reviewed p.M798V 0.802 144 0% 204 40.7% - - benign(0) tolerated(1) - HMMSmart_HOX,superfamily_Homeodomain_like FAM209B 388799 genome.wustl.edu 37 20 55108531 55108531 + Missense_Mutation SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_001013646.2 +1 predicted p.R45Q 0.221 93 0% 164 39% - - benign(0.037) deleterious(0) neutral(0.447) NULL TRAPPC10 7109 genome.wustl.edu 37 21 45497658 45497658 + Missense_Mutation SNP T T C novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_003274.4 +1 reviewed p.F488L 1.000 104 0% 115 33.9% - - probably_damaging(0.996) deleterious(0.04) deleterious(0.810) NULL MCM3AP 8888 genome.wustl.edu 37 21 47664965 47664965 + Silent SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_003906.3 -1 reviewed p.G1598 0.425 68 0% 154 41.6% - - - - - NULL USP18 11274 genome.wustl.edu 37 22 18640540 18640541 + Frame_Shift_Del DEL AG AG - novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 AG AG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_017414.3 +1 validated p.E39fs 0.997:0.997 - - - - - - - - - NULL PRODH 5625 genome.wustl.edu 37 22 18905900 18905900 + Silent SNP G G T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_016335.3 -1 reviewed p.A452 0.187 12 0% 24 41.7% - - - - - HMMPfam_Pro_dh,superfamily_FAD-linked oxidoreductase LOC100288476 100288476 genome.wustl.edu 37 22 31493236 31493247 + In_Frame_Del DEL CCCTTCCCCTTT CCCTTCCCCTTT - novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 CCCTTCCCCTTT CCCTTCCCCTTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 XM_002343774.1 -1 model p.KGKG285in_frame_del 0.002:0.007:0.013:0.018:0.013:0.000:0.000:0.000:0.000:0.000:0.000:0.001 - - - - - - - - - NULL PATZ1 23598 genome.wustl.edu 37 22 31731705 31731705 + Missense_Mutation SNP T T C novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_014323.2 -1 reviewed p.S494G 1.000 31 0% 42 35.7% - - possibly_damaging(0.784) deleterious(0.05) deleterious(0.639) superfamily_C2H2 and C2HC zinc fingers APOBEC3D 140564 genome.wustl.edu 37 22 39421620 39421620 + Nonsense_Mutation SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_152426.3 +1 reviewed p.W183* 0.773 150 0.7% 309 37.2% - - - - - HMMPfam_APOBEC_C,superfamily_Cytidine deaminase-like SYNGR1 9145 genome.wustl.edu 37 22 39770533 39770533 + Silent SNP C C T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_004711.4 +1 reviewed p.A104 0.485 27 0% 63 23.8% - - - - - HMMPfam_MARVEL TAB1 10454 genome.wustl.edu 37 22 39817891 39817891 + Missense_Mutation SNP A A G novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_006116.2 +1 reviewed p.D279G 0.992 80 0% 129 34.9% - - benign(0.396) tolerated(0.14) neutral(0.377) HMMSmart_SM00332,superfamily_Protein serine/threonine phosphatase 2C catalytic domain,HMMPfam_PP2C EP300 2033 genome.wustl.edu 37 22 41572357 41572357 + Missense_Mutation SNP C C T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_001429.3 +1 reviewed p.A1629V 1.000 162 0% 283 39.6% - - unknown(0) deleterious(0) - NULL KIAA1644 85352 genome.wustl.edu 37 22 44692669 44692669 + Missense_Mutation SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 ENST00000381176 -1 known p.T55I 1.000 57 0% 79 48.1% - - possibly_damaging(0.481) deleterious(0.01) deleterious(0.565) NULL FIGF 2277 genome.wustl.edu 37 X 15381342 15381342 + Missense_Mutation SNP G G C novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_004469.2 -1 reviewed p.L64V 1.000 95 0% 122 43.4% - - probably_damaging(1) tolerated(0.12) deleterious(0.760) NULL RPS6KA3 6197 genome.wustl.edu 37 X 20183054 20183054 + Missense_Mutation SNP A A G novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_004586.2 -1 reviewed p.M576T 1.000 184 0% 325 37.5% - - possibly_damaging(0.738) tolerated(0.08) deleterious(0.570) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase DDX3X 1654 genome.wustl.edu 37 X 41206690 41206690 + Missense_Mutation SNP G G T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_001356.3 +1 reviewed p.R632I 1.000 155 0% 176 36.4% - - unknown(0) tolerated(0.4) - NULL KDM6A 7403 genome.wustl.edu 37 X 44929189 44929189 + Silent SNP C C T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 ENST00000433797 +1 known p.P406S 1.000 105 0% 183 33.3% - - - - - NULL SLC38A5 92745 genome.wustl.edu 37 X 48320424 48320424 + Missense_Mutation SNP C C T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_033518.2 -1 validated p.C247Y 1.000 42 0% 80 36.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Aa_trans PPP1R3F 89801 genome.wustl.edu 37 X 49143007 49143007 + Missense_Mutation SNP C C A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_033215.4 +1 reviewed p.P619T 0.134 31 0% 59 40.7% - - benign(0.344) deleterious(0) deleterious(0.553) NULL KIF4A 24137 genome.wustl.edu 37 X 69607080 69607080 + Missense_Mutation SNP G G A novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_012310.4 +1 reviewed p.R722Q 0.352 32 0% 60 38.3% - - possibly_damaging(0.778) tolerated(0.13) deleterious(0.543) NULL BHLHB9 80823 genome.wustl.edu 37 X 102004531 102004531 + Missense_Mutation SNP A A G novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_001142524.1 +1 validated p.Y203C 0.976 565 0% 833 41.7% - - benign(0.002) tolerated(0.17) neutral(0.059) NULL BHLHB9 80823 genome.wustl.edu 37 X 102005288 102005288 + Silent SNP A A G novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_001142524.1 +1 validated p.S455 0.070 342 0% 413 37.3% - - - - - HMMPfam_DUF634,superfamily_ARM-type_fold IL1RAPL2 26280 genome.wustl.edu 37 X 104984616 104984616 + Missense_Mutation SNP C C T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_017416.1 +1 reviewed p.A327V 0.994 255 0% 450 40% - - benign(0.397) tolerated(0.33) neutral(0.151) HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin CAPN6 827 genome.wustl.edu 37 X 110507063 110507063 + Silent SNP A A G novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_014289.3 -1 reviewed p.P34 0.995 182 0% 217 39.2% - - - - - HMMPfam_Peptidase_C2,HMMSmart_CysPc,superfamily_SSF54001 THOC2 57187 genome.wustl.edu 37 X 122760503 122760503 + Missense_Mutation SNP T T C novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_001081550.1 -1 validated p.K923R 1.000 252 0% 271 39.9% - - benign(0.395) deleterious(0) deleterious(0.572) NULL RBMX 27316 genome.wustl.edu 37 X 135961586 135961588 + In_Frame_Del DEL TGT TGT - novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 TGT TGT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 NM_002139.3 -1 reviewed p.MVEA1in_frame_delWLK 1.000 - - - - - - - - - NULL LOC100129236 100129236 genome.wustl.edu 37 X 150684442 150684442 + Silent SNP C C T novel TCGA-BG-A0LX-01A-11W-A062-09 TCGA-BG-A0LX-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f306ad14-2966-4347-809e-df1cecaeb634 ac1d0b04-170e-4ce7-ad5a-fbf45d0fb5e0 XM_001716550.1 +1 model p.A84 0.000 24 0% 11 54.5% - - - - - NULL