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 MIB2 142678 genome.wustl.edu 37 1 1563170 1563170 + Silent SNP G G A novel TCGA-B5-A11W-01A-12D-A122-09 TCGA-B5-A11W-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 89254a96-1194-4061-9524-b0ee3fce4ca2 eae37d12-b0c0-4f1b-9be3-cc1d8c580e53 ENST00000514234 +1 known p.A421T 0.976 22 0% 22 31.8% 43 27.9% - - - HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat RERE 473 genome.wustl.edu 37 1 8421893 8421893 + Missense_Mutation SNP C C T novel TCGA-B5-A11W-01A-12D-A122-09 TCGA-B5-A11W-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 89254a96-1194-4061-9524-b0ee3fce4ca2 eae37d12-b0c0-4f1b-9be3-cc1d8c580e53 NM_001042681.1 -1 reviewed p.R649H 1.000 185 0% 178 36.5% 16 43.7% unknown(0) deleterious(0.05) - HMMPfam_Atrophin-1 TMEM201 199953 genome.wustl.edu 37 1 9670791 9670791 + Missense_Mutation SNP G G A novel TCGA-B5-A11W-01A-12D-A122-09 TCGA-B5-A11W-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 89254a96-1194-4061-9524-b0ee3fce4ca2 eae37d12-b0c0-4f1b-9be3-cc1d8c580e53 NM_001130924.2 +1 validated p.G541S 0.128 23 0% 24 37.5% 6 33.3% benign(0.019) tolerated(0.97) neutral(0.001) NULL UBIAD1 29914 genome.wustl.edu 37 1 11333813 11333813 + Silent SNP C C T novel TCGA-B5-A11W-01A-12D-A122-09 TCGA-B5-A11W-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 89254a96-1194-4061-9524-b0ee3fce4ca2 eae37d12-b0c0-4f1b-9be3-cc1d8c580e53 NM_013319.2 +1 reviewed p.S75 0.976 112 0% 118 46.6% 8 37.5% - - - HMMPfam_UbiA ARID1A 8289 genome.wustl.edu 37 1 27087961 27087961 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11W-01A-12D-A122-09 TCGA-B5-A11W-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 89254a96-1194-4061-9524-b0ee3fce4ca2 eae37d12-b0c0-4f1b-9be3-cc1d8c580e53 NM_006015.4 +1 reviewed p.R750* 1.000 105 0% 90 48.9% 5 20% - - - NULL STK40 83931 genome.wustl.edu 37 1 36824393 36824393 + Missense_Mutation SNP C C G novel TCGA-B5-A11W-01A-12D-A122-09 TCGA-B5-A11W-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 89254a96-1194-4061-9524-b0ee3fce4ca2 eae37d12-b0c0-4f1b-9be3-cc1d8c580e53 NM_032017.1 -1 provisional p.S48T 1.000 230 0% 226 41.6% 15 53.3% probably_damaging(0.991) deleterious(0.02) deleterious(0.827) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) ST6GALNAC5 81849 genome.wustl.edu 37 1 77510062 77510062 + Silent SNP G G A novel TCGA-B5-A11W-01A-12D-A122-09 TCGA-B5-A11W-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 89254a96-1194-4061-9524-b0ee3fce4ca2 eae37d12-b0c0-4f1b-9be3-cc1d8c580e53 NM_030965.1 +1 provisional p.A145 0.196 21 0% 21 19% 0 - - - - HMMPfam_Glyco_transf_29 SELENBP1 8991 genome.wustl.edu 37 1 151341500 151341500 + Missense_Mutation SNP G G A rs191782924 by1000genomes TCGA-B5-A11W-01A-12D-A122-09 TCGA-B5-A11W-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 89254a96-1194-4061-9524-b0ee3fce4ca2 eae37d12-b0c0-4f1b-9be3-cc1d8c580e53 NM_003944.2 -1 reviewed p.R114W 1.000 46 0% 28 32.1% 16 25% probably_damaging(0.997) deleterious(0) deleterious(0.911) HMMPfam_SBP56,superfamily_Cyt_cd1_haem_C CGN 57530 genome.wustl.edu 37 1 151501906 151501906 + Silent SNP C C T novel TCGA-B5-A11W-01A-12D-A122-09 TCGA-B5-A11W-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 89254a96-1194-4061-9524-b0ee3fce4ca2 eae37d12-b0c0-4f1b-9be3-cc1d8c580e53 NM_020770.2 +1 validated p.D659 0.961 33 0% 25 48% 12 66.6% - - - NULL ZNF648 127665 genome.wustl.edu 37 1 182026325 182026325 + Missense_Mutation SNP C C G novel TCGA-B5-A11W-01A-12D-A122-09 TCGA-B5-A11W-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 89254a96-1194-4061-9524-b0ee3fce4ca2 eae37d12-b0c0-4f1b-9be3-cc1d8c580e53 NM_001009992.1 -1 provisional p.G274A 0.014 25 0% 24 29.2% 0 - benign(0.264) deleterious(0.04) neutral(0.377) superfamily_SSF57667 IMP4 92856 genome.wustl.edu 37 2 131103248 131103248 + Missense_Mutation SNP G G A novel TCGA-B5-A11W-01A-12D-A122-09 TCGA-B5-A11W-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 89254a96-1194-4061-9524-b0ee3fce4ca2 eae37d12-b0c0-4f1b-9be3-cc1d8c580e53 NM_033416.1 +1 provisional p.V139I 0.866 69 0% 71 39.4% 50 42% benign(0.073) tolerated(0.19) neutral(0.054) HMMPfam_Brix LOC100133109 100133109 genome.wustl.edu 37 2 175584552 175584552 + Silent SNP G G A novel TCGA-B5-A11W-01A-12D-A122-09 TCGA-B5-A11W-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 89254a96-1194-4061-9524-b0ee3fce4ca2 eae37d12-b0c0-4f1b-9be3-cc1d8c580e53 XM_001716442.2 -1 model p.D142 0.073 32 0% 21 66.7% 46 0% - - - NULL DNER 92737 genome.wustl.edu 37 2 230282893 230282893 + Missense_Mutation SNP A A T novel TCGA-B5-A11W-01A-12D-A122-09 TCGA-B5-A11W-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 89254a96-1194-4061-9524-b0ee3fce4ca2 eae37d12-b0c0-4f1b-9be3-cc1d8c580e53 NM_139072.3 -1 validated p.C514S 0.998 183 0% 189 41.8% 0 - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMSmart_EGF_CA,HMMPfam_EGF,PatternScan_EGF_CA,superfamily_SSF57196 RNF123 63891 genome.wustl.edu 37 3 49739802 49739802 + Silent SNP T T C novel TCGA-B5-A11W-01A-12D-A122-09 TCGA-B5-A11W-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 89254a96-1194-4061-9524-b0ee3fce4ca2 eae37d12-b0c0-4f1b-9be3-cc1d8c580e53 NM_022064.2 +1 reviewed p.F531 1.000 72 0% 69 40.6% 6 66.6% - - - NULL SAMD7 344658 genome.wustl.edu 37 3 169639051 169639051 + Missense_Mutation SNP G G A novel TCGA-B5-A11W-01A-12D-A122-09 TCGA-B5-A11W-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 89254a96-1194-4061-9524-b0ee3fce4ca2 eae37d12-b0c0-4f1b-9be3-cc1d8c580e53 NM_182610.2 +1 provisional p.V46I 0.073 274 0% 250 39.2% 0 - benign(0.004) tolerated(0.7) neutral(0.002) NULL TNIK 23043 genome.wustl.edu 37 3 170856159 170856159 + Missense_Mutation SNP G G A novel TCGA-B5-A11W-01A-12D-A122-09 TCGA-B5-A11W-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 89254a96-1194-4061-9524-b0ee3fce4ca2 eae37d12-b0c0-4f1b-9be3-cc1d8c580e53 NM_015028.2 -1 validated p.R477C 1.000 278 0.4% 349 39% 0 - probably_damaging(0.997) deleterious(0.01) deleterious(0.872) NULL COX7B2 170712 genome.wustl.edu 37 4 46736989 46736989 + Missense_Mutation SNP G G A novel TCGA-B5-A11W-01A-12D-A122-09 TCGA-B5-A11W-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 89254a96-1194-4061-9524-b0ee3fce4ca2 eae37d12-b0c0-4f1b-9be3-cc1d8c580e53 NM_130902.2 -1 validated p.T74I 0.589 228 0% 199 42.2% 0 - probably_damaging(0.983) deleterious(0.02) deleterious(0.812) HMMPfam_COX7B,superfamily_SSF81423 IGFBP7 3490 genome.wustl.edu 37 4 57907055 57907055 + Missense_Mutation SNP C C T novel TCGA-B5-A11W-01A-12D-A122-09 TCGA-B5-A11W-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 89254a96-1194-4061-9524-b0ee3fce4ca2 eae37d12-b0c0-4f1b-9be3-cc1d8c580e53 NM_001553.1 -1 provisional p.G174S 1.000 84 0% 93 47.3% 1117 24.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_IG,HMMPfam_I-set,superfamily_SSF48726 TLR2 7097 genome.wustl.edu 37 4 154625597 154625597 + Missense_Mutation SNP C C T novel TCGA-B5-A11W-01A-12D-A122-09 TCGA-B5-A11W-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 89254a96-1194-4061-9524-b0ee3fce4ca2 eae37d12-b0c0-4f1b-9be3-cc1d8c580e53 NM_003264.3 +1 reviewed p.T513M 0.000 88 0% 85 40% 3 33.3% benign(0.012) tolerated(0.56) neutral(0.007) superfamily_SSF52058 DCHS2 54798 genome.wustl.edu 37 4 155411072 155411072 + Missense_Mutation SNP G G A novel TCGA-B5-A11W-01A-12D-A122-09 TCGA-B5-A11W-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 89254a96-1194-4061-9524-b0ee3fce4ca2 eae37d12-b0c0-4f1b-9be3-cc1d8c580e53 NM_001142552.1 -1 validated p.A479V 0.055 37 0% 36 44.4% 0 - benign(0.004) deleterious(0.02) neutral(0.383) HMMSmart_SM00112,superfamily_Cadherin-like F11 2160 genome.wustl.edu 37 4 187206815 187206815 + Missense_Mutation SNP G G A novel TCGA-B5-A11W-01A-12D-A122-09 TCGA-B5-A11W-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 89254a96-1194-4061-9524-b0ee3fce4ca2 eae37d12-b0c0-4f1b-9be3-cc1d8c580e53 NM_000128.3 +1 reviewed p.R443H 1.000 406 0% 421 43.2% 0 - benign(0.369) deleterious(0.01) deleterious(0.523) HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases ADCY2 108 genome.wustl.edu 37 5 7773097 7773097 + Missense_Mutation SNP G G A novel TCGA-B5-A11W-01A-12D-A122-09 TCGA-B5-A11W-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 89254a96-1194-4061-9524-b0ee3fce4ca2 eae37d12-b0c0-4f1b-9be3-cc1d8c580e53 NM_020546.2 +1 reviewed p.R756Q 1.000 358 0% 403 41.2% 2 0% possibly_damaging(0.919) tolerated(0.36) neutral(0.390) NULL PIK3R1 5295 genome.wustl.edu 37 5 67588927 67588928 + Splice_Site INS - - G novel TCGA-B5-A11W-01A-12D-A122-09 TCGA-B5-A11W-10A-01D-A122-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 89254a96-1194-4061-9524-b0ee3fce4ca2 eae37d12-b0c0-4f1b-9be3-cc1d8c580e53 NM_181523.1 +1 reviewed e8-1 1.000:1.000 - - - - - - - - - - PIK3R1 5295 genome.wustl.edu 37 5 67591128 67591129 + Frame_Shift_Ins INS - - A novel TCGA-B5-A11W-01A-12D-A122-09 TCGA-B5-A11W-10A-01D-A122-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 89254a96-1194-4061-9524-b0ee3fce4ca2 eae37d12-b0c0-4f1b-9be3-cc1d8c580e53 NM_181523.1 +1 reviewed p.T576fs 1.000:1.000 - - - - - - - - - NULL NUP153 9972 genome.wustl.edu 37 6 17629745 17629745 + Silent SNP C C T novel TCGA-B5-A11W-01A-12D-A122-09 TCGA-B5-A11W-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 89254a96-1194-4061-9524-b0ee3fce4ca2 eae37d12-b0c0-4f1b-9be3-cc1d8c580e53 NM_005124.2 -1 reviewed p.S895 0.000 112 0% 110 35.5% 8 62.5% - - - NULL FRS3 10817 genome.wustl.edu 37 6 41738726 41738726 + Silent SNP C C A novel TCGA-B5-A11W-01A-12D-A122-09 TCGA-B5-A11W-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 89254a96-1194-4061-9524-b0ee3fce4ca2 eae37d12-b0c0-4f1b-9be3-cc1d8c580e53 NM_006653.3 -1 reviewed p.L370 0.999 12 0% 19 63.2% 2 0% - - - NULL IGF2R 3482 genome.wustl.edu 37 6 160500779 160500779 + Silent SNP G G A novel TCGA-B5-A11W-01A-12D-A122-09 TCGA-B5-A11W-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 89254a96-1194-4061-9524-b0ee3fce4ca2 eae37d12-b0c0-4f1b-9be3-cc1d8c580e53 NM_000876.2 +1 reviewed p.A1882 0.993 294 0% 244 45.1% 6 50% - - - HMMPfam_CIMR,superfamily_Mannose 6-phosphate receptor domain GPER 2852 genome.wustl.edu 37 7 1131888 1131888 + Missense_Mutation SNP G G A novel TCGA-B5-A11W-01A-12D-A122-09 TCGA-B5-A11W-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 89254a96-1194-4061-9524-b0ee3fce4ca2 eae37d12-b0c0-4f1b-9be3-cc1d8c580e53 NM_001039966.1 +1 reviewed p.R175Q 0.996 32 0% 41 46.3% 5 20% probably_damaging(0.995) deleterious(0.04) deleterious(0.806) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like LMTK2 22853 genome.wustl.edu 37 7 97823316 97823316 + Missense_Mutation SNP C C T novel TCGA-B5-A11W-01A-12D-A122-09 TCGA-B5-A11W-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 89254a96-1194-4061-9524-b0ee3fce4ca2 eae37d12-b0c0-4f1b-9be3-cc1d8c580e53 NM_014916.3 +1 reviewed p.P1180L 0.000 42 0% 35 37.1% 3 33.3% benign(0) tolerated(1) - NULL TRRAP 8295 genome.wustl.edu 37 7 98552894 98552894 + Silent SNP C C G novel TCGA-B5-A11W-01A-12D-A122-09 TCGA-B5-A11W-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 89254a96-1194-4061-9524-b0ee3fce4ca2 eae37d12-b0c0-4f1b-9be3-cc1d8c580e53 ENST00000456197 +1 known p.S1683C 0.025 41 0% 51 33.3% 6 0% - - - superfamily_ARM repeat MOGAT3 346606 genome.wustl.edu 37 7 100839379 100839379 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11W-01A-12D-A122-09 TCGA-B5-A11W-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 89254a96-1194-4061-9524-b0ee3fce4ca2 eae37d12-b0c0-4f1b-9be3-cc1d8c580e53 ENST00000440203 -1 known p.W320* 1.000 49 0% 48 43.8% 0 - - - - NULL PLXNA4 91584 genome.wustl.edu 37 7 132169702 132169702 + Missense_Mutation SNP G G A novel TCGA-B5-A11W-01A-12D-A122-09 TCGA-B5-A11W-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 89254a96-1194-4061-9524-b0ee3fce4ca2 eae37d12-b0c0-4f1b-9be3-cc1d8c580e53 NM_181775.3 -1 validated p.A481V 0.001 106 0.9% 99 36.4% 0 - benign(0.007) tolerated(0.21) neutral(0.044) HMMSmart_Sema,superfamily_Sema RHEB 6009 genome.wustl.edu 37 7 151188050 151188050 + Missense_Mutation SNP A A T novel TCGA-B5-A11W-01A-12D-A122-09 TCGA-B5-A11W-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 89254a96-1194-4061-9524-b0ee3fce4ca2 eae37d12-b0c0-4f1b-9be3-cc1d8c580e53 NM_005614.3 -1 reviewed p.Y35N 1.000 376 0% 314 45.2% 30 40% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_RAS,HMMPfam_Ras,superfamily_SSF52540 MBOAT4 619373 genome.wustl.edu 37 8 29989509 29989509 + Missense_Mutation SNP A A G novel TCGA-B5-A11W-01A-12D-A122-09 TCGA-B5-A11W-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 89254a96-1194-4061-9524-b0ee3fce4ca2 eae37d12-b0c0-4f1b-9be3-cc1d8c580e53 NM_001100916.1 -1 validated p.Y420H 0.054 117 0% 162 34% 1 0% probably_damaging(1) tolerated(0.34) deleterious(0.523) NULL KCNB2 9312 genome.wustl.edu 37 8 73848509 73848509 + Missense_Mutation SNP C C T novel TCGA-B5-A11W-01A-12D-A122-09 TCGA-B5-A11W-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 89254a96-1194-4061-9524-b0ee3fce4ca2 eae37d12-b0c0-4f1b-9be3-cc1d8c580e53 NM_004770.2 +1 reviewed p.R307C 1.000 112 0% 128 33.6% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ion_trans,superfamily_SSF81324 ZFHX4 79776 genome.wustl.edu 37 8 77764081 77764081 + Missense_Mutation SNP G G T novel TCGA-B5-A11W-01A-12D-A122-09 TCGA-B5-A11W-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 89254a96-1194-4061-9524-b0ee3fce4ca2 eae37d12-b0c0-4f1b-9be3-cc1d8c580e53 NM_024721.4 +1 validated p.V1597F 0.240 72 0% 104 49% 0 - benign(0.099) - - NULL C8orf33 65265 genome.wustl.edu 37 8 146278811 146278811 + Silent SNP C C T novel TCGA-B5-A11W-01A-12D-A122-09 TCGA-B5-A11W-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 89254a96-1194-4061-9524-b0ee3fce4ca2 eae37d12-b0c0-4f1b-9be3-cc1d8c580e53 NM_023080.2 +1 validated p.L178 0.006 103 0% 81 54.3% 29 48.2% - - - NULL ST6GALNAC4 27090 genome.wustl.edu 37 9 130674833 130674833 + Missense_Mutation SNP C C T novel TCGA-B5-A11W-01A-12D-A122-09 TCGA-B5-A11W-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 89254a96-1194-4061-9524-b0ee3fce4ca2 eae37d12-b0c0-4f1b-9be3-cc1d8c580e53 NM_175039.3 -1 reviewed p.V109M 0.003 15 0% 21 38.1% 6 16.6% benign(0.198) tolerated(0.25) neutral(0.056) HMMPfam_Glyco_transf_29 PRRC2B 84726 genome.wustl.edu 37 9 134323131 134323131 + Missense_Mutation SNP A A C novel TCGA-B5-A11W-01A-12D-A122-09 TCGA-B5-A11W-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 89254a96-1194-4061-9524-b0ee3fce4ca2 eae37d12-b0c0-4f1b-9be3-cc1d8c580e53 NM_013318.3 +1 validated p.N354H 1.000 47 0% 38 60.5% 8 25% probably_damaging(0.997) deleterious(0.04) deleterious(0.815) NULL CACNA1B 774 genome.wustl.edu 37 9 141000233 141000233 + Missense_Mutation SNP C C T novel TCGA-B5-A11W-01A-12D-A122-09 TCGA-B5-A11W-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 89254a96-1194-4061-9524-b0ee3fce4ca2 eae37d12-b0c0-4f1b-9be3-cc1d8c580e53 NM_000718.2 +1 validated p.T1801M 1.000 33 0% 38 47.4% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) NULL HSPA14 51182 genome.wustl.edu 37 10 14909903 14909903 + Missense_Mutation SNP G G T novel TCGA-B5-A11W-01A-12D-A122-09 TCGA-B5-A11W-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 89254a96-1194-4061-9524-b0ee3fce4ca2 eae37d12-b0c0-4f1b-9be3-cc1d8c580e53 NM_016299.2 +1 validated p.A459S 1.000 134 0% 130 48.5% 14 0% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_Heat shock protein 70kD (HSP70) peptide-binding domain HSPA14 51182 genome.wustl.edu 37 10 14909904 14909904 + Missense_Mutation SNP C C T novel TCGA-B5-A11W-01A-12D-A122-09 TCGA-B5-A11W-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 89254a96-1194-4061-9524-b0ee3fce4ca2 eae37d12-b0c0-4f1b-9be3-cc1d8c580e53 NM_016299.2 +1 validated p.A459V 1.000 132 0% 132 47% 15 6.6% probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_Heat shock protein 70kD (HSP70) peptide-binding domain MYO3A 53904 genome.wustl.edu 37 10 26455078 26455078 + Missense_Mutation SNP C C A novel TCGA-B5-A11W-01A-12D-A122-09 TCGA-B5-A11W-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 89254a96-1194-4061-9524-b0ee3fce4ca2 eae37d12-b0c0-4f1b-9be3-cc1d8c580e53 NM_017433.4 +1 reviewed p.L1028I 1.000 190 0% 167 37.1% 0 - possibly_damaging(0.857) tolerated(0.15) deleterious(0.572) HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540 PTEN 5728 genome.wustl.edu 37 10 89720865 89720866 + Frame_Shift_Ins INS - - A novel TCGA-B5-A11W-01A-12D-A122-09 TCGA-B5-A11W-10A-01D-A122-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 89254a96-1194-4061-9524-b0ee3fce4ca2 eae37d12-b0c0-4f1b-9be3-cc1d8c580e53 ENST00000371953 +1 known p.N340fs 1.000:1.000 - - - - - - - - - superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_PTEN_C2 SFXN2 118980 genome.wustl.edu 37 10 104491512 104491512 + Missense_Mutation SNP G G A novel TCGA-B5-A11W-01A-12D-A122-09 TCGA-B5-A11W-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 89254a96-1194-4061-9524-b0ee3fce4ca2 eae37d12-b0c0-4f1b-9be3-cc1d8c580e53 NM_178858.4 +1 validated p.R209K 0.983 115 0% 135 44.4% 6 66.6% benign(0) tolerated(0.11) neutral(0.272) HMMPfam_Mtc TRPM5 29850 genome.wustl.edu 37 11 2434397 2434397 + Missense_Mutation SNP G G A novel TCGA-B5-A11W-01A-12D-A122-09 TCGA-B5-A11W-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 89254a96-1194-4061-9524-b0ee3fce4ca2 eae37d12-b0c0-4f1b-9be3-cc1d8c580e53 NM_014555.3 -1 validated p.T688M 0.001 38 0% 36 50% 0 - benign(0.026) tolerated(0.17) neutral(0.060) NULL FAM168A 23201 genome.wustl.edu 37 11 73118593 73118593 + Missense_Mutation SNP C C T novel TCGA-B5-A11W-01A-12D-A122-09 TCGA-B5-A11W-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 89254a96-1194-4061-9524-b0ee3fce4ca2 eae37d12-b0c0-4f1b-9be3-cc1d8c580e53 NM_015159.1 -1 predicted p.V231M 1.000 243 0% 215 47% 5 20% unknown(0) - - NULL CACNA1C 775 genome.wustl.edu 37 12 2676738 2676738 + Missense_Mutation SNP C C T novel TCGA-B5-A11W-01A-12D-A122-09 TCGA-B5-A11W-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 89254a96-1194-4061-9524-b0ee3fce4ca2 eae37d12-b0c0-4f1b-9be3-cc1d8c580e53 NM_199460.2 +1 reviewed p.T558M 0.990 39 0% 34 29.4% 0 - probably_damaging(0.993) tolerated(0.16) deleterious(0.510) superfamily_Voltage-gated potassium channels KRAS 3845 genome.wustl.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C A rs121913529 byCluster TCGA-B5-A11W-01A-12D-A122-09 TCGA-B5-A11W-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 89254a96-1194-4061-9524-b0ee3fce4ca2 eae37d12-b0c0-4f1b-9be3-cc1d8c580e53 NM_033360.2 -1 reviewed p.G12V 1.000 311 0% 476 62.2% 5 40% benign(0.048) deleterious(0) neutral(0.448) HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases OAS2 4939 genome.wustl.edu 37 12 113435439 113435439 + Missense_Mutation SNP G G A novel TCGA-B5-A11W-01A-12D-A122-09 TCGA-B5-A11W-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 89254a96-1194-4061-9524-b0ee3fce4ca2 eae37d12-b0c0-4f1b-9be3-cc1d8c580e53 NM_016817.2 +1 reviewed p.V248I 0.128 176 0% 191 47.1% 2 50% benign(0.01) tolerated(0.13) neutral(0.253) HMMPfam_OAS1_C,superfamily_PAP/OAS1 substrate-binding domain ING1 3621 genome.wustl.edu 37 13 111372025 111372025 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11W-01A-12D-A122-09 TCGA-B5-A11W-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 89254a96-1194-4061-9524-b0ee3fce4ca2 eae37d12-b0c0-4f1b-9be3-cc1d8c580e53 NM_005537.3 +1 reviewed p.R339* 0.949 45 0% 45 37.8% 48 41.6% - - - NULL CHD8 57680 genome.wustl.edu 37 14 21871262 21871262 + Missense_Mutation SNP G G A novel TCGA-B5-A11W-01A-12D-A122-09 TCGA-B5-A11W-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 89254a96-1194-4061-9524-b0ee3fce4ca2 eae37d12-b0c0-4f1b-9be3-cc1d8c580e53 NM_020920.3 -1 reviewed p.R931W 1.000 176 0% 153 44.4% 6 16.6% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Helicase_C,HMMSmart_SM00490,superfamily_P-loop containing nucleoside triphosphate hydrolases STXBP6 29091 genome.wustl.edu 37 14 25444014 25444014 + Missense_Mutation SNP T T C novel TCGA-B5-A11W-01A-12D-A122-09 TCGA-B5-A11W-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 89254a96-1194-4061-9524-b0ee3fce4ca2 eae37d12-b0c0-4f1b-9be3-cc1d8c580e53 NM_014178.6 -1 provisional p.K4R 1.000 155 0% 152 38.8% 36 41.6% probably_damaging(0.998) tolerated(0.39) deleterious(0.490) NULL TRIP4 9325 genome.wustl.edu 37 15 64706331 64706331 + Missense_Mutation SNP C C T novel TCGA-B5-A11W-01A-12D-A122-09 TCGA-B5-A11W-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 89254a96-1194-4061-9524-b0ee3fce4ca2 eae37d12-b0c0-4f1b-9be3-cc1d8c580e53 NM_016213.3 +1 validated p.P364L 0.791 181 0% 197 41.1% 20 40% benign(0.003) tolerated(0.07) neutral(0.319) NULL WHAMM 123720 genome.wustl.edu 37 15 83485536 83485536 + Silent SNP C C T novel TCGA-B5-A11W-01A-12D-A122-09 TCGA-B5-A11W-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 89254a96-1194-4061-9524-b0ee3fce4ca2 eae37d12-b0c0-4f1b-9be3-cc1d8c580e53 NM_001080435.1 +1 provisional p.V292 0.000 265 0% 232 39.7% 3 33.3% - - - NULL KLHL25 64410 genome.wustl.edu 37 15 86312924 86312924 + Missense_Mutation SNP G G A novel TCGA-B5-A11W-01A-12D-A122-09 TCGA-B5-A11W-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 89254a96-1194-4061-9524-b0ee3fce4ca2 eae37d12-b0c0-4f1b-9be3-cc1d8c580e53 NM_022480.3 -1 validated p.R40C 1.000 52 0% 87 33.3% 2 0% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_BTB/POZ_fold,HMMPfam_BTB MKL2 57496 genome.wustl.edu 37 16 14340822 14340822 + Nonsense_Mutation SNP G G T novel TCGA-B5-A11W-01A-12D-A122-09 TCGA-B5-A11W-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 89254a96-1194-4061-9524-b0ee3fce4ca2 eae37d12-b0c0-4f1b-9be3-cc1d8c580e53 NM_014048.3 +1 validated p.E569* 1.000 105 0% 99 44.4% 2 0% - - - NULL ABCC1 4363 genome.wustl.edu 37 16 16101799 16101799 + Nonsense_Mutation SNP C C T novel TCGA-B5-A11W-01A-12D-A122-09 TCGA-B5-A11W-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 89254a96-1194-4061-9524-b0ee3fce4ca2 eae37d12-b0c0-4f1b-9be3-cc1d8c580e53 NM_004996.3 +1 reviewed p.R59* 0.013 490 0% 487 41.7% 2 0% - - - NULL MYH13 8735 genome.wustl.edu 37 17 10248866 10248866 + Missense_Mutation SNP C C T novel TCGA-B5-A11W-01A-12D-A122-09 TCGA-B5-A11W-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 89254a96-1194-4061-9524-b0ee3fce4ca2 eae37d12-b0c0-4f1b-9be3-cc1d8c580e53 NM_003802.2 -1 validated p.R444H 1.000 426 0% 369 43.9% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases CCDC144A 9720 genome.wustl.edu 37 17 16623883 16623883 + Missense_Mutation SNP C C G novel TCGA-B5-A11W-01A-12D-A122-09 TCGA-B5-A11W-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 89254a96-1194-4061-9524-b0ee3fce4ca2 eae37d12-b0c0-4f1b-9be3-cc1d8c580e53 NM_014695.1 +1 provisional p.S601C 0.957 611 0% 543 36.6% 0 - benign(0.354) deleterious(0.01) deleterious(0.518) NULL NF1 4763 genome.wustl.edu 37 17 29554278 29554278 + Missense_Mutation SNP G G T novel TCGA-B5-A11W-01A-12D-A122-09 TCGA-B5-A11W-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 89254a96-1194-4061-9524-b0ee3fce4ca2 eae37d12-b0c0-4f1b-9be3-cc1d8c580e53 NM_001042492.2 +1 reviewed p.R765L 1.000 99 0% 125 35.2% 3 66.6% benign(0.13) deleterious(0.01) neutral(0.417) NULL NF1 4763 genome.wustl.edu 37 17 29652853 29652853 + Missense_Mutation SNP A A C novel TCGA-B5-A11W-01A-12D-A122-09 TCGA-B5-A11W-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 89254a96-1194-4061-9524-b0ee3fce4ca2 eae37d12-b0c0-4f1b-9be3-cc1d8c580e53 NM_001042492.2 +1 reviewed p.Q1617H 1.000 137 0% 149 40.3% 0 - possibly_damaging(0.913) deleterious(0.01) deleterious(0.770) HMMSmart_SM00516 GPATCH8 23131 genome.wustl.edu 37 17 42476495 42476495 + Missense_Mutation SNP G G A novel TCGA-B5-A11W-01A-12D-A122-09 TCGA-B5-A11W-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 89254a96-1194-4061-9524-b0ee3fce4ca2 eae37d12-b0c0-4f1b-9be3-cc1d8c580e53 NM_001002909.1 -1 validated p.R984W 0.999 64 0% 84 45.2% 5 20% probably_damaging(1) deleterious(0) deleterious(0.945) NULL KIF18B 146909 genome.wustl.edu 37 17 43012764 43012764 + Missense_Mutation SNP C C T novel TCGA-B5-A11W-01A-12D-A122-09 TCGA-B5-A11W-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 89254a96-1194-4061-9524-b0ee3fce4ca2 eae37d12-b0c0-4f1b-9be3-cc1d8c580e53 NM_001080443.1 -1 provisional p.G112R 1.000 135 0% 111 47.7% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Kinesin,HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases OR4D2 124538 genome.wustl.edu 37 17 56247849 56247849 + Missense_Mutation SNP T T C novel TCGA-B5-A11W-01A-12D-A122-09 TCGA-B5-A11W-10A-01D-A122-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 89254a96-1194-4061-9524-b0ee3fce4ca2 eae37d12-b0c0-4f1b-9be3-cc1d8c580e53 NM_001004707.3 +1 provisional p.M278T 0.997 97 0% 112 47.3% 0 - benign(0.103) deleterious(0) neutral(0.453) HMMPfam_7tm_1,superfamily_SSF81321 USH1G 124590 genome.wustl.edu 37 17 72916298 72916298 + Silent SNP C C T novel TCGA-B5-A11W-01A-12D-A122-09 TCGA-B5-A11W-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 89254a96-1194-4061-9524-b0ee3fce4ca2 eae37d12-b0c0-4f1b-9be3-cc1d8c580e53 NM_173477.2 -1 reviewed p.R211 1.000 29 0% 33 51.5% 1 0% - - - NULL RNF165 494470 genome.wustl.edu 37 18 44015316 44015316 + Missense_Mutation SNP C C G novel TCGA-B5-A11W-01A-12D-A122-09 TCGA-B5-A11W-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 89254a96-1194-4061-9524-b0ee3fce4ca2 eae37d12-b0c0-4f1b-9be3-cc1d8c580e53 NM_152470.2 +1 validated p.L148V 1.000 98 0% 111 43.2% 0 - benign(0.343) tolerated(1) neutral(0.108) NULL LOC440518 440518 genome.wustl.edu 37 19 22783193 22783193 + RNA SNP G G T novel TCGA-B5-A11W-01A-12D-A122-09 TCGA-B5-A11W-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 89254a96-1194-4061-9524-b0ee3fce4ca2 eae37d12-b0c0-4f1b-9be3-cc1d8c580e53 XR_041921.2 +1 model NULL 0.989 18 0% 18 38.9% 0 - - - - - LSR 51599 genome.wustl.edu 37 19 35758275 35758276 + In_Frame_Ins INS - - GGA rs79703261 TCGA-B5-A11W-01A-12D-A122-09 TCGA-B5-A11W-10A-01D-A122-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 89254a96-1194-4061-9524-b0ee3fce4ca2 eae37d12-b0c0-4f1b-9be3-cc1d8c580e53 NM_205834.2 +1 validated p.520in_frame_insR 0.950:0.994 - - - - - - - - - NULL ETV2 2116 genome.wustl.edu 37 19 36135601 36135601 + Nonsense_Mutation SNP C C A novel TCGA-B5-A11W-01A-12D-A122-09 TCGA-B5-A11W-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 89254a96-1194-4061-9524-b0ee3fce4ca2 eae37d12-b0c0-4f1b-9be3-cc1d8c580e53 NM_014209.2 +1 validated p.Y292* 1.000 46 0% 28 46.4% 1 100% - - - HMMPfam_Ets,HMMSmart_ETS,PatternScan_ETS_DOMAIN_2,superfamily_SSF46785 FCGBP 8857 genome.wustl.edu 37 19 40408488 40408488 + Missense_Mutation SNP G G T novel TCGA-B5-A11W-01A-12D-A122-09 TCGA-B5-A11W-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 89254a96-1194-4061-9524-b0ee3fce4ca2 eae37d12-b0c0-4f1b-9be3-cc1d8c580e53 NM_003890.2 -1 validated p.L1451M 0.810 190 0% 169 27.2% 1 0% probably_damaging(1) tolerated(0.13) deleterious(0.752) NULL ZNF415 55786 genome.wustl.edu 37 19 53612024 53612024 + Missense_Mutation SNP G G A novel TCGA-B5-A11W-01A-12D-A122-09 TCGA-B5-A11W-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 89254a96-1194-4061-9524-b0ee3fce4ca2 eae37d12-b0c0-4f1b-9be3-cc1d8c580e53 NM_018355.2 -1 validated p.S425L 0.000 259 0% 199 39.7% 3 66.6% probably_damaging(0.989) deleterious(0.02) deleterious(0.823) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 DEFB126 81623 genome.wustl.edu 37 20 126073 126073 + Missense_Mutation SNP A A G novel TCGA-B5-A11W-01A-12D-A122-09 TCGA-B5-A11W-10A-01D-A122-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 89254a96-1194-4061-9524-b0ee3fce4ca2 eae37d12-b0c0-4f1b-9be3-cc1d8c580e53 NM_030931.2 +1 reviewed p.K26E 0.619 170 0% 247 38.9% 0 - benign(0.164) deleterious(0.02) neutral(0.398) NULL ZNF133 7692 genome.wustl.edu 37 20 18296623 18296623 + Missense_Mutation SNP C C G novel TCGA-B5-A11W-01A-12D-A122-09 TCGA-B5-A11W-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 89254a96-1194-4061-9524-b0ee3fce4ca2 eae37d12-b0c0-4f1b-9be3-cc1d8c580e53 NM_001083330.1 +1 validated p.H375Q 1.000 77 0% 68 45.6% 9 44.4% probably_damaging(0.963) deleterious(0) deleterious(0.850) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 C20orf26 26074 genome.wustl.edu 37 20 20257983 20257983 + Missense_Mutation SNP G G A novel TCGA-B5-A11W-01A-12D-A122-09 TCGA-B5-A11W-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 89254a96-1194-4061-9524-b0ee3fce4ca2 eae37d12-b0c0-4f1b-9be3-cc1d8c580e53 NM_015585.3 +1 validated p.A893T 0.033 96 0% 84 42.9% 8 62.5% possibly_damaging(0.457) tolerated(0.52) neutral(0.159) superfamily_FAD/NAD(P)-binding domain DSCAM 1826 genome.wustl.edu 37 21 41710258 41710258 + Missense_Mutation SNP C C A novel TCGA-B5-A11W-01A-12D-A122-09 TCGA-B5-A11W-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 89254a96-1194-4061-9524-b0ee3fce4ca2 eae37d12-b0c0-4f1b-9be3-cc1d8c580e53 NM_001389.3 -1 validated p.G518V 1.000 287 0% 271 42.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin MYO18B 84700 genome.wustl.edu 37 22 26164640 26164640 + Missense_Mutation SNP C C A novel TCGA-B5-A11W-01A-12D-A122-09 TCGA-B5-A11W-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 89254a96-1194-4061-9524-b0ee3fce4ca2 eae37d12-b0c0-4f1b-9be3-cc1d8c580e53 NM_032608.5 +1 reviewed p.L253M 0.000 67 0% 62 46.8% 0 - possibly_damaging(0.519) deleterious(0.03) deleterious(0.539) NULL POLR2F 5435 genome.wustl.edu 37 22 38363691 38363691 + Nonsense_Mutation SNP G G A novel TCGA-B5-A11W-01A-12D-A122-09 TCGA-B5-A11W-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 89254a96-1194-4061-9524-b0ee3fce4ca2 eae37d12-b0c0-4f1b-9be3-cc1d8c580e53 NM_021974.3 +1 reviewed p.W118* 1.000 76 0% 87 44.8% 150 46% - - - superfamily_RPB6/omega subunit-like KAL1 3730 genome.wustl.edu 37 X 8522045 8522045 + Silent SNP G G A novel TCGA-B5-A11W-01A-12D-A122-09 TCGA-B5-A11W-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 89254a96-1194-4061-9524-b0ee3fce4ca2 eae37d12-b0c0-4f1b-9be3-cc1d8c580e53 NM_000216.2 -1 reviewed p.P434 0.035 432 0.2% 418 35.9% 0 - - - - HMMSmart_FN3 BMP15 9210 genome.wustl.edu 37 X 50653986 50653986 + Missense_Mutation SNP G G A novel TCGA-B5-A11W-01A-12D-A122-09 TCGA-B5-A11W-10A-01D-A122-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 89254a96-1194-4061-9524-b0ee3fce4ca2 eae37d12-b0c0-4f1b-9be3-cc1d8c580e53 NM_005448.2 +1 reviewed p.R68Q 0.015 86 0% 84 54.8% 0 - probably_damaging(0.992) tolerated(0.15) deleterious(0.689) NULL UBE2NL 389898 genome.wustl.edu 37 X 142967525 142967525 + Missense_Mutation SNP C C T novel TCGA-B5-A11W-01A-12D-A122-09 TCGA-B5-A11W-10A-01D-A122-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 89254a96-1194-4061-9524-b0ee3fce4ca2 eae37d12-b0c0-4f1b-9be3-cc1d8c580e53 NM_001012989.1 +1 reviewed p.S108L 1.000 336 0% 365 42.2% 2 0% possibly_damaging(0.482) deleterious(0) deleterious(0.605) HMMPfam_UQ_con,HMMSmart_UBCc,superfamily_UBQ-conjugat/RWD-like