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 ERI3 79033 genome.wustl.edu 37 1 44804990 44804990 + Splice_Site SNP T T C novel TCGA-AP-A0LI-01A-11W-A062-09 TCGA-AP-A0LI-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 75d67325-713c-4c63-9ef5-970d6b08e34d ce85e884-4682-44ce-ac4b-5125577d9634 ENST00000433471 -1 known e3-2 1.000 352 0% 278 18.7% 4 50% - - - - RNF220 55182 genome.wustl.edu 37 1 44877906 44877906 + Missense_Mutation SNP G G C novel TCGA-AP-A0LI-01A-11W-A062-09 TCGA-AP-A0LI-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 75d67325-713c-4c63-9ef5-970d6b08e34d ce85e884-4682-44ce-ac4b-5125577d9634 NM_018150.2 +1 validated p.R46P 1.000 584 0% 349 15.8% 0 - probably_damaging(0.999) deleterious(0.05) deleterious(0.836) NULL KTI12 112970 genome.wustl.edu 37 1 52498437 52498437 + Missense_Mutation SNP G G T novel TCGA-AP-A0LI-01A-11W-A062-09 TCGA-AP-A0LI-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 75d67325-713c-4c63-9ef5-970d6b08e34d ce85e884-4682-44ce-ac4b-5125577d9634 NM_138417.2 -1 validated p.P333T 1.000 185 0% 105 17.1% 9 33.3% benign(0.003) tolerated(0.28) neutral(0.032) HMMPfam_KTI12 GCLM 2730 genome.wustl.edu 37 1 94354609 94354609 + Silent SNP C C T novel TCGA-AP-A0LI-01A-11W-A062-09 TCGA-AP-A0LI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 75d67325-713c-4c63-9ef5-970d6b08e34d ce85e884-4682-44ce-ac4b-5125577d9634 NM_002061.2 -1 reviewed p.V254 0.995 145 0% 116 11.2% 10 40% - - - superfamily_NAD(P)-linked oxidoreductase FCRL5 83416 genome.wustl.edu 37 1 157488247 157488247 + Silent SNP C C A novel TCGA-AP-A0LI-01A-11W-A062-09 TCGA-AP-A0LI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 75d67325-713c-4c63-9ef5-970d6b08e34d ce85e884-4682-44ce-ac4b-5125577d9634 NM_031281.2 -1 validated p.R928 0.000 175 0% 132 11.4% 1 0% - - - NULL FCRL3 115352 genome.wustl.edu 37 1 157668177 157668177 + Missense_Mutation SNP G G C novel TCGA-AP-A0LI-01A-11W-A062-09 TCGA-AP-A0LI-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 75d67325-713c-4c63-9ef5-970d6b08e34d ce85e884-4682-44ce-ac4b-5125577d9634 NM_052939.3 -1 reviewed p.P99A 0.000 298 0% 180 28.3% 0 - benign(0.001) tolerated(0.35) neutral(0.021) superfamily_Immunoglobulin OR6K3 391114 genome.wustl.edu 37 1 158687589 158687589 + Nonsense_Mutation SNP G G C novel TCGA-AP-A0LI-01A-11W-A062-09 TCGA-AP-A0LI-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 75d67325-713c-4c63-9ef5-970d6b08e34d ce85e884-4682-44ce-ac4b-5125577d9634 NM_001005327.2 -1 validated p.S122* 0.001 545 0% 550 17.3% 0 - - - - HMMPfam_7tm_1,superfamily_SSF81321 ATP1A2 477 genome.wustl.edu 37 1 160099131 160099131 + Missense_Mutation SNP A A T novel TCGA-AP-A0LI-01A-11W-A062-09 TCGA-AP-A0LI-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 75d67325-713c-4c63-9ef5-970d6b08e34d ce85e884-4682-44ce-ac4b-5125577d9634 NM_000702.3 +1 reviewed p.M468L 1.000 654 0% 456 23.5% 0 - benign(0) tolerated(0.35) neutral(0.021) HMMPfam_Hydrolase,superfamily_SSF56784,superfamily_SSF81660,superfamily_SSF81665 DUSP12 11266 genome.wustl.edu 37 1 161722936 161722936 + Missense_Mutation SNP A A G novel TCGA-AP-A0LI-01A-11W-A062-09 TCGA-AP-A0LI-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 75d67325-713c-4c63-9ef5-970d6b08e34d ce85e884-4682-44ce-ac4b-5125577d9634 NM_007240.1 +1 reviewed p.K249R 1.000 439 0% 351 27.9% 14 35.7% probably_damaging(1) tolerated(0.15) deleterious(0.741) NULL C1orf74 148304 genome.wustl.edu 37 1 209956962 209956962 + Silent SNP G G A novel TCGA-AP-A0LI-01A-11W-A062-09 TCGA-AP-A0LI-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 75d67325-713c-4c63-9ef5-970d6b08e34d ce85e884-4682-44ce-ac4b-5125577d9634 NM_152485.2 -1 predicted p.L6 0.082 323 0% 206 18.9% 0 - - - - PatternScan_TONB_DEPENDENT_REC_1 PROX1 5629 genome.wustl.edu 37 1 214170439 214170439 + Missense_Mutation SNP T T A novel TCGA-AP-A0LI-01A-11W-A062-09 TCGA-AP-A0LI-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 75d67325-713c-4c63-9ef5-970d6b08e34d ce85e884-4682-44ce-ac4b-5125577d9634 NM_002763.3 +1 provisional p.N187K 1.000 316 0% 241 14.5% 0 - benign(0.111) tolerated(0.84) neutral(0.009) HMMPfam_Prox1 BROX 148362 genome.wustl.edu 37 1 222906027 222906027 + Nonsense_Mutation SNP C C T novel TCGA-AP-A0LI-01A-11W-A062-09 TCGA-AP-A0LI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 75d67325-713c-4c63-9ef5-970d6b08e34d ce85e884-4682-44ce-ac4b-5125577d9634 NM_144695.2 +1 validated p.Q403* 1.000 192 0% 163 11% 8 12.5% - - - NULL OR2T34 127068 genome.wustl.edu 37 1 248737122 248737122 + Silent SNP T T G novel TCGA-AP-A0LI-01A-11W-A062-09 TCGA-AP-A0LI-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 75d67325-713c-4c63-9ef5-970d6b08e34d ce85e884-4682-44ce-ac4b-5125577d9634 NM_001001821.1 -1 provisional p.R313 0.000 389 0% 345 9.9% 0 - - - - superfamily_SSF81321 NCOA1 8648 genome.wustl.edu 37 2 24952429 24952429 + Silent SNP G G A novel TCGA-AP-A0LI-01A-11W-A062-09 TCGA-AP-A0LI-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 75d67325-713c-4c63-9ef5-970d6b08e34d ce85e884-4682-44ce-ac4b-5125577d9634 NM_003743.4 +1 reviewed p.L982 0.783 386 0% 332 25.6% 6 0% - - - NULL CCDC75 253635 genome.wustl.edu 37 2 37319061 37319061 + Nonsense_Mutation SNP A A T novel TCGA-AP-A0LI-01A-11W-A062-09 TCGA-AP-A0LI-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 75d67325-713c-4c63-9ef5-970d6b08e34d ce85e884-4682-44ce-ac4b-5125577d9634 NM_174931.2 +1 validated p.K107* 0.994 82 0% 65 33.8% 0 - - - - HMMPfam_G-patch,HMMSmart_G_patch VRK2 7444 genome.wustl.edu 37 2 58386671 58386671 + Missense_Mutation SNP T T C novel TCGA-AP-A0LI-01A-11W-A062-09 TCGA-AP-A0LI-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 75d67325-713c-4c63-9ef5-970d6b08e34d ce85e884-4682-44ce-ac4b-5125577d9634 NM_001130480.1 +1 reviewed p.V457A 0.000 208 0% 174 17.8% 28 32.1% benign(0) tolerated(1) - NULL PKP4 8502 genome.wustl.edu 37 2 159481935 159481935 + Silent SNP G G T novel TCGA-AP-A0LI-01A-11W-A062-09 TCGA-AP-A0LI-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 75d67325-713c-4c63-9ef5-970d6b08e34d ce85e884-4682-44ce-ac4b-5125577d9634 NM_003628.3 +1 reviewed p.L383 0.997 82 0% 85 18.8% 10 40% - - - NULL DYTN 391475 genome.wustl.edu 37 2 207570586 207570586 + Missense_Mutation SNP C C A novel TCGA-AP-A0LI-01A-11W-A062-09 TCGA-AP-A0LI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 75d67325-713c-4c63-9ef5-970d6b08e34d ce85e884-4682-44ce-ac4b-5125577d9634 NM_001093730.1 -1 provisional p.G103V 0.014 89 0% 69 15.9% 0 - probably_damaging(0.99) deleterious(0) deleterious(0.886) HMMPfam_efhand_1,superfamily_SSF47473 METTL21A 151194 genome.wustl.edu 37 2 208489082 208489082 + Nonsense_Mutation SNP A A T novel TCGA-AP-A0LI-01A-11W-A062-09 TCGA-AP-A0LI-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 75d67325-713c-4c63-9ef5-970d6b08e34d ce85e884-4682-44ce-ac4b-5125577d9634 NM_001127395.1 -1 validated p.Y6* 0.165 134 0% 100 26% 15 66.6% - - - NULL CXCR7 57007 genome.wustl.edu 37 2 237490163 237490163 + Missense_Mutation SNP C C T novel TCGA-AP-A0LI-01A-11W-A062-09 TCGA-AP-A0LI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 75d67325-713c-4c63-9ef5-970d6b08e34d ce85e884-4682-44ce-ac4b-5125577d9634 NM_020311.2 +1 reviewed p.T352M 0.164 217 0% 96 15.6% 4 0% benign(0.011) deleterious(0.01) neutral(0.406) NULL CTDSPL 10217 genome.wustl.edu 37 3 38006134 38006134 + Missense_Mutation SNP G G C novel TCGA-AP-A0LI-01A-11W-A062-09 TCGA-AP-A0LI-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 75d67325-713c-4c63-9ef5-970d6b08e34d ce85e884-4682-44ce-ac4b-5125577d9634 NM_001008392.1 +1 validated p.D114H 1.000 255 0% 125 21.6% 2 50% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_NIF,HMMSmart_SM00577,superfamily_HAD-like ZNF619 285267 genome.wustl.edu 37 3 40528792 40528792 + Missense_Mutation SNP A A G novel TCGA-AP-A0LI-01A-11W-A062-09 TCGA-AP-A0LI-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 75d67325-713c-4c63-9ef5-970d6b08e34d ce85e884-4682-44ce-ac4b-5125577d9634 NM_001145082.2 +1 validated p.E304G 0.782 516 0% 282 14.5% 1 0% probably_damaging(0.992) deleterious(0) deleterious(0.892) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers HTR1F 3355 genome.wustl.edu 37 3 88040328 88040328 + Missense_Mutation SNP G G C novel TCGA-AP-A0LI-01A-11W-A062-09 TCGA-AP-A0LI-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 75d67325-713c-4c63-9ef5-970d6b08e34d ce85e884-4682-44ce-ac4b-5125577d9634 NM_000866.3 +1 validated p.M143I 1.000 225 0% 218 12.4% 0 - benign(0.07) deleterious(0.01) neutral(0.411) HMMPfam_7tm_1,superfamily_SSF81321 SERPINI2 5276 genome.wustl.edu 37 3 167189414 167189414 + Missense_Mutation SNP T T C novel TCGA-AP-A0LI-01A-11W-A062-09 TCGA-AP-A0LI-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 75d67325-713c-4c63-9ef5-970d6b08e34d ce85e884-4682-44ce-ac4b-5125577d9634 NM_006217.3 -1 reviewed p.Q70R 1.000 398 0% 315 12.1% 0 - probably_damaging(0.955) deleterious(0.01) deleterious(0.804) HMMPfam_Serpin,HMMSmart_SERPIN,superfamily_Prot_inh_serpin SENP5 205564 genome.wustl.edu 37 3 196613169 196613169 + Missense_Mutation SNP C C T novel TCGA-AP-A0LI-01A-11W-A062-09 TCGA-AP-A0LI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 75d67325-713c-4c63-9ef5-970d6b08e34d ce85e884-4682-44ce-ac4b-5125577d9634 NM_152699.4 +1 validated p.H373Y 0.989 178 0% 151 15.2% 7 28.5% possibly_damaging(0.7) deleterious(0) deleterious(0.696) NULL TADA2B 93624 genome.wustl.edu 37 4 7056281 7056281 + Silent SNP C C T novel TCGA-AP-A0LI-01A-11W-A062-09 TCGA-AP-A0LI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 75d67325-713c-4c63-9ef5-970d6b08e34d ce85e884-4682-44ce-ac4b-5125577d9634 NM_152293.2 +1 validated p.L255 1.000 92 0% 107 11.2% 11 0% - - - NULL PDZD2 23037 genome.wustl.edu 37 5 32074264 32074264 + Missense_Mutation SNP G G A novel TCGA-AP-A0LI-01A-11W-A062-09 TCGA-AP-A0LI-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 75d67325-713c-4c63-9ef5-970d6b08e34d ce85e884-4682-44ce-ac4b-5125577d9634 NM_178140.2 +1 reviewed p.E1018K 0.626 211 0% 196 12.8% 0 - possibly_damaging(0.881) deleterious(0) deleterious(0.788) NULL CARD6 84674 genome.wustl.edu 37 5 40843443 40843443 + Missense_Mutation SNP C C G novel TCGA-AP-A0LI-01A-11W-A062-09 TCGA-AP-A0LI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 75d67325-713c-4c63-9ef5-970d6b08e34d ce85e884-4682-44ce-ac4b-5125577d9634 NM_032587.3 +1 reviewed p.T158R 0.000 148 0% 150 15.3% 0 - possibly_damaging(0.858) tolerated(0.11) deleterious(0.603) NULL ERBB2IP 55914 genome.wustl.edu 37 5 65349926 65349926 + Missense_Mutation SNP T T A novel TCGA-AP-A0LI-01A-11W-A062-09 TCGA-AP-A0LI-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 75d67325-713c-4c63-9ef5-970d6b08e34d ce85e884-4682-44ce-ac4b-5125577d9634 NM_018695.2 +1 reviewed p.F927Y 1.000 497 0% 322 22% 5 60% benign(0.011) tolerated(0.56) neutral(0.007) NULL CMYA5 202333 genome.wustl.edu 37 5 79030413 79030413 + Missense_Mutation SNP T T G novel TCGA-AP-A0LI-01A-11W-A062-09 TCGA-AP-A0LI-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 75d67325-713c-4c63-9ef5-970d6b08e34d ce85e884-4682-44ce-ac4b-5125577d9634 NM_153610.3 +1 validated p.V1942G 0.000 294 0% 164 15.9% 0 - possibly_damaging(0.846) deleterious(0) deleterious(0.770) NULL PCDHA11 56138 genome.wustl.edu 37 5 140250304 140250304 + Missense_Mutation SNP C C T novel TCGA-AP-A0LI-01A-11W-A062-09 TCGA-AP-A0LI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 75d67325-713c-4c63-9ef5-970d6b08e34d ce85e884-4682-44ce-ac4b-5125577d9634 NM_018902.3 +1 reviewed p.A539V 0.951 106 0.9% 53 45.3% 0 - possibly_damaging(0.938) deleterious(0) deleterious(0.828) HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGB4 8641 genome.wustl.edu 37 5 140769455 140769455 + Missense_Mutation SNP G G C novel TCGA-AP-A0LI-01A-11W-A062-09 TCGA-AP-A0LI-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 75d67325-713c-4c63-9ef5-970d6b08e34d ce85e884-4682-44ce-ac4b-5125577d9634 NM_003736.2 +1 reviewed p.E668D 0.897 175 0% 82 17.1% 0 - possibly_damaging(0.833) tolerated(0.28) neutral(0.349) HMMSmart_SM00112 KIAA0141 9812 genome.wustl.edu 37 5 141307805 141307805 + Nonsense_Mutation SNP C C A novel TCGA-AP-A0LI-01A-11W-A062-09 TCGA-AP-A0LI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 75d67325-713c-4c63-9ef5-970d6b08e34d ce85e884-4682-44ce-ac4b-5125577d9634 NM_001142603.1 +1 validated p.C118* 1.000 136 0% 55 18.2% 9 0% - - - NULL HIST1H2BI 8346 genome.wustl.edu 37 6 26273432 26273432 + Missense_Mutation SNP G G C novel TCGA-AP-A0LI-01A-11W-A062-09 TCGA-AP-A0LI-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 75d67325-713c-4c63-9ef5-970d6b08e34d ce85e884-4682-44ce-ac4b-5125577d9634 NM_003525.2 +1 reviewed p.E77Q 1.000 479 0% 378 12.2% 1 0% probably_damaging(0.985) deleterious(0) deleterious(0.877) HMMSmart_SM00427,HMMPfam_Histone,superfamily_Histone-fold LAMA2 3908 genome.wustl.edu 37 6 129691085 129691085 + Missense_Mutation SNP G G A novel TCGA-AP-A0LI-01A-11W-A062-09 TCGA-AP-A0LI-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 75d67325-713c-4c63-9ef5-970d6b08e34d ce85e884-4682-44ce-ac4b-5125577d9634 NM_000426.3 +1 reviewed p.E1637K 1.000 172 0% 107 26.2% 0 - benign(0) tolerated(0.23) neutral(0.042) superfamily_ConA_like_lec_gl,HMMPfam_Laminin_I ENPP3 5169 genome.wustl.edu 37 6 132059248 132059248 + Missense_Mutation SNP C C A novel TCGA-AP-A0LI-01A-11W-A062-09 TCGA-AP-A0LI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 75d67325-713c-4c63-9ef5-970d6b08e34d ce85e884-4682-44ce-ac4b-5125577d9634 NM_005021.3 +1 reviewed p.P749T 1.000 110 0% 132 11.4% 0 - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_NUC,superfamily_SSF54060 SGK1 6446 genome.wustl.edu 37 6 134583250 134583250 + Missense_Mutation SNP C C A novel TCGA-AP-A0LI-01A-11W-A062-09 TCGA-AP-A0LI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 75d67325-713c-4c63-9ef5-970d6b08e34d ce85e884-4682-44ce-ac4b-5125577d9634 NM_001143676.1 -1 reviewed p.D36Y 1.000 468 0% 482 27.8% 0 - possibly_damaging(0.649) deleterious(0) deleterious(0.672) NULL TIAM2 26230 genome.wustl.edu 37 6 155450463 155450463 + Missense_Mutation SNP C C G novel TCGA-AP-A0LI-01A-11W-A062-09 TCGA-AP-A0LI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 75d67325-713c-4c63-9ef5-970d6b08e34d ce85e884-4682-44ce-ac4b-5125577d9634 NM_012454.3 +1 reviewed p.H36D 0.991 177 0% 144 27.1% 0 - possibly_damaging(0.918) deleterious(0.01) deleterious(0.774) NULL LPA 4018 genome.wustl.edu 37 6 160977164 160977164 + Missense_Mutation SNP C C G novel TCGA-AP-A0LI-01A-11W-A062-09 TCGA-AP-A0LI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 75d67325-713c-4c63-9ef5-970d6b08e34d ce85e884-4682-44ce-ac4b-5125577d9634 NM_005577.2 -1 reviewed p.Q1622H 0.008 718 0% 608 15.6% 0 - probably_damaging(0.977) deleterious(0.01) deleterious(0.825) HMMPfam_Kringle,HMMSmart_SM00130,superfamily_Kringle-like LMOD2 442721 genome.wustl.edu 37 7 123303077 123303077 + Missense_Mutation SNP G G T rs78874923 TCGA-AP-A0LI-01A-11W-A062-09 TCGA-AP-A0LI-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 75d67325-713c-4c63-9ef5-970d6b08e34d ce85e884-4682-44ce-ac4b-5125577d9634 NM_207163.1 +1 validated p.K479N 1.000 61 0% 42 11.9% 0 - probably_damaging(0.998) deleterious(0.02) deleterious(0.857) NULL BRAF 673 genome.wustl.edu 37 7 140481423 140481423 + Missense_Mutation SNP C C T rs180177032 TCGA-AP-A0LI-01A-11W-A062-09 TCGA-AP-A0LI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 75d67325-713c-4c63-9ef5-970d6b08e34d ce85e884-4682-44ce-ac4b-5125577d9634 NM_004333.4 -1 reviewed p.R462K 1.000 239 0% 192 14.1% 5 0% benign(0) tolerated(0.21) neutral(0.044) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase ASAH1 427 genome.wustl.edu 37 8 17919892 17919892 + Missense_Mutation SNP G G C rs137853597 TCGA-AP-A0LI-01A-11W-A062-09 TCGA-AP-A0LI-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 75d67325-713c-4c63-9ef5-970d6b08e34d ce85e884-4682-44ce-ac4b-5125577d9634 NM_004315.4 -1 reviewed p.L198V 0.979 379 0% 177 16.9% 24 54.1% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_CBAH ASPH 444 genome.wustl.edu 37 8 62489361 62489361 + Missense_Mutation SNP C C G novel TCGA-AP-A0LI-01A-11W-A062-09 TCGA-AP-A0LI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 75d67325-713c-4c63-9ef5-970d6b08e34d ce85e884-4682-44ce-ac4b-5125577d9634 NM_004318.3 -1 reviewed p.Q373H 0.999 249 0% 143 22.4% 4 25% unknown(0) tolerated(0.07) - superfamily_SSF48452 SNX31 169166 genome.wustl.edu 37 8 101625265 101625265 + Missense_Mutation SNP C C T novel TCGA-AP-A0LI-01A-11W-A062-09 TCGA-AP-A0LI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 75d67325-713c-4c63-9ef5-970d6b08e34d ce85e884-4682-44ce-ac4b-5125577d9634 NM_152628.3 -1 validated p.G161S 0.984 190 0% 180 23.9% 0 - benign(0.006) tolerated(1) - NULL RIMS2 9699 genome.wustl.edu 37 8 104898214 104898214 + Missense_Mutation SNP A A G novel TCGA-AP-A0LI-01A-11W-A062-09 TCGA-AP-A0LI-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 75d67325-713c-4c63-9ef5-970d6b08e34d ce85e884-4682-44ce-ac4b-5125577d9634 NM_001100117.1 +1 validated p.S463G 1.000 305 0% 372 12.9% 0 - benign(0.047) tolerated(0.5) neutral(0.013) NULL ZNF252 286101 genome.wustl.edu 37 8 146201974 146201974 + Missense_Mutation SNP G G A novel TCGA-AP-A0LI-01A-11W-A062-09 TCGA-AP-A0LI-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 75d67325-713c-4c63-9ef5-970d6b08e34d ce85e884-4682-44ce-ac4b-5125577d9634 ENST00000355436 -1 known p.A625V 0.048 75 0% 60 26.7% 1 0% benign(0.102) tolerated(0.34) neutral(0.031) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 CDK5RAP2 55755 genome.wustl.edu 37 9 123280899 123280899 + Missense_Mutation SNP G G C novel TCGA-AP-A0LI-01A-11W-A062-09 TCGA-AP-A0LI-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 75d67325-713c-4c63-9ef5-970d6b08e34d ce85e884-4682-44ce-ac4b-5125577d9634 NM_018249.4 -1 reviewed p.L373V 0.055 284 0% 189 15.9% 1 0% probably_damaging(0.995) tolerated(0.08) deleterious(0.758) NULL GSN 2934 genome.wustl.edu 37 9 124091587 124091587 + Missense_Mutation SNP G G T novel TCGA-AP-A0LI-01A-11W-A062-09 TCGA-AP-A0LI-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 75d67325-713c-4c63-9ef5-970d6b08e34d ce85e884-4682-44ce-ac4b-5125577d9634 NM_000177.4 +1 reviewed p.W704C 1.000 89 0% 63 23.8% 124 8.8% probably_damaging(1) deleterious(0.04) deleterious(0.849) HMMSmart_SM00262,HMMPfam_Gelsolin,superfamily_Actin depolymerizing proteins PRPF18 8559 genome.wustl.edu 37 10 13642284 13642284 + Missense_Mutation SNP C C T novel TCGA-AP-A0LI-01A-11W-A062-09 TCGA-AP-A0LI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 75d67325-713c-4c63-9ef5-970d6b08e34d ce85e884-4682-44ce-ac4b-5125577d9634 NM_003675.3 +1 reviewed p.S62L 0.977 219 0% 241 15.4% 4 50% benign(0.014) tolerated(0.12) neutral(0.261) NULL PTCHD3 374308 genome.wustl.edu 37 10 27702859 27702859 + Silent SNP G G A novel TCGA-AP-A0LI-01A-11W-A062-09 TCGA-AP-A0LI-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 75d67325-713c-4c63-9ef5-970d6b08e34d ce85e884-4682-44ce-ac4b-5125577d9634 NM_001034842.3 -1 validated p.I107 0.000 53 0% 43 44.2% 0 - - - - NULL ASAH2C 653365 genome.wustl.edu 37 10 48025352 48025352 + Silent SNP G G A novel TCGA-AP-A0LI-01A-11W-A062-09 TCGA-AP-A0LI-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 75d67325-713c-4c63-9ef5-970d6b08e34d ce85e884-4682-44ce-ac4b-5125577d9634 ENST00000426610 -1 known p.Y296 1.000 173 0% 174 27.6% 0 - - - - HMMPfam_Ceramidase_alk TYSND1 219743 genome.wustl.edu 37 10 71903691 71903691 + Nonsense_Mutation SNP G G A novel TCGA-AP-A0LI-01A-11W-A062-09 TCGA-AP-A0LI-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 75d67325-713c-4c63-9ef5-970d6b08e34d ce85e884-4682-44ce-ac4b-5125577d9634 NM_173555.2 -1 validated p.Q402* 0.997 78 0% 56 12.5% 5 20% - - - superfamily_Trypsin-like serine proteases HTRA1 5654 genome.wustl.edu 37 10 124266241 124266241 + Missense_Mutation SNP C C T novel TCGA-AP-A0LI-01A-11W-A062-09 TCGA-AP-A0LI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 75d67325-713c-4c63-9ef5-970d6b08e34d ce85e884-4682-44ce-ac4b-5125577d9634 NM_002775.4 +1 reviewed p.S271L 0.994 95 0% 62 16.1% 63 7.9% possibly_damaging(0.483) deleterious(0.01) deleterious(0.566) HMMPfam_Trypsin,superfamily_Pept_Ser_Cys SPRYD5 84767 genome.wustl.edu 37 11 55655739 55655739 + Splice_Site SNP G G T novel TCGA-AP-A0LI-01A-11W-A062-09 TCGA-AP-A0LI-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 75d67325-713c-4c63-9ef5-970d6b08e34d ce85e884-4682-44ce-ac4b-5125577d9634 NM_032681.3 +1 validated e3+1 0.146 246 0% 204 15.2% 0 - - - - - MS4A2 2206 genome.wustl.edu 37 11 59856269 59856269 + Missense_Mutation SNP C C G novel TCGA-AP-A0LI-01A-11W-A062-09 TCGA-AP-A0LI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 75d67325-713c-4c63-9ef5-970d6b08e34d ce85e884-4682-44ce-ac4b-5125577d9634 NM_000139.3 +1 reviewed p.L11V 0.027 95 0% 67 11.9% 0 - benign(0.224) - - NULL TYR 7299 genome.wustl.edu 37 11 88911536 88911536 + Missense_Mutation SNP A A C novel TCGA-AP-A0LI-01A-11W-A062-09 TCGA-AP-A0LI-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 75d67325-713c-4c63-9ef5-970d6b08e34d ce85e884-4682-44ce-ac4b-5125577d9634 NM_000372.4 +1 reviewed p.T139P 0.622 463 0% 424 25.2% 0 - benign(0.164) deleterious(0.01) neutral(0.421) superfamily_Di-copper centre-containing domain KLRD1 3824 genome.wustl.edu 37 12 10462283 10462283 + Missense_Mutation SNP G G C novel TCGA-AP-A0LI-01A-11W-A062-09 TCGA-AP-A0LI-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 75d67325-713c-4c63-9ef5-970d6b08e34d ce85e884-4682-44ce-ac4b-5125577d9634 NM_001114396.1 +1 reviewed p.Q53H 0.378 87 0% 59 30.5% 2 0% benign(0.038) tolerated(0.18) neutral(0.058) NULL ATP2B1 490 genome.wustl.edu 37 12 90020377 90020377 + Missense_Mutation SNP C C G novel TCGA-AP-A0LI-01A-11W-A062-09 TCGA-AP-A0LI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 75d67325-713c-4c63-9ef5-970d6b08e34d ce85e884-4682-44ce-ac4b-5125577d9634 NM_001682.2 -1 reviewed p.G328A 1.000 227 0% 162 25.9% 0 - benign(0.336) tolerated(0.14) neutral(0.355) HMMPfam_E1-E2_ATPase,superfamily_SSF81665 CDK17 5128 genome.wustl.edu 37 12 96692683 96692683 + Missense_Mutation SNP G G T novel TCGA-AP-A0LI-01A-11W-A062-09 TCGA-AP-A0LI-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 75d67325-713c-4c63-9ef5-970d6b08e34d ce85e884-4682-44ce-ac4b-5125577d9634 NM_002595.3 -1 reviewed p.H227N 1.000 205 0% 128 15.6% 0 - possibly_damaging(0.943) tolerated(0.11) deleterious(0.659) HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase MIPEP 4285 genome.wustl.edu 37 13 24453490 24453490 + Silent SNP C C T novel TCGA-AP-A0LI-01A-11W-A062-09 TCGA-AP-A0LI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 75d67325-713c-4c63-9ef5-970d6b08e34d ce85e884-4682-44ce-ac4b-5125577d9634 NM_005932.2 -1 reviewed p.L152 1.000 266 0% 137 20.4% 2 50% - - - superfamily_SSF55486 MPP5 64398 genome.wustl.edu 37 14 67769232 67769232 + Missense_Mutation SNP G G C novel TCGA-AP-A0LI-01A-11W-A062-09 TCGA-AP-A0LI-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 75d67325-713c-4c63-9ef5-970d6b08e34d ce85e884-4682-44ce-ac4b-5125577d9634 NM_022474.2 +1 validated p.E303Q 1.000 190 0% 106 14.2% 2 50% benign(0.132) tolerated(0.08) neutral(0.311) HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like WDR25 79446 genome.wustl.edu 37 14 100992272 100992272 + Silent SNP C C T novel TCGA-AP-A0LI-01A-11W-A062-09 TCGA-AP-A0LI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 75d67325-713c-4c63-9ef5-970d6b08e34d ce85e884-4682-44ce-ac4b-5125577d9634 NM_024515.4 +1 validated p.S389 0.012 102 0% 92 18.5% 12 25% - - - HMMSmart_SM00320,superfamily_WD40 repeat-like BAG5 9529 genome.wustl.edu 37 14 104026644 104026644 + Missense_Mutation SNP C C G novel TCGA-AP-A0LI-01A-11W-A062-09 TCGA-AP-A0LI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 75d67325-713c-4c63-9ef5-970d6b08e34d ce85e884-4682-44ce-ac4b-5125577d9634 NM_001015049.1 -1 reviewed p.M327I 1.000 193 0% 182 13.7% 4 50% benign(0.002) tolerated(0.12) neutral(0.261) HMMPfam_BAG,HMMSmart_SM00264,superfamily_BAG domain BTBD6 90135 genome.wustl.edu 37 14 105716665 105716665 + Missense_Mutation SNP G G T novel TCGA-AP-A0LI-01A-11W-A062-09 TCGA-AP-A0LI-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 75d67325-713c-4c63-9ef5-970d6b08e34d ce85e884-4682-44ce-ac4b-5125577d9634 NM_033271.2 +1 validated p.G297W 1.000 38 0% 26 23.1% 97 45.3% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_PHR STRC 161497 genome.wustl.edu 37 15 43893087 43893087 + Silent SNP G G A novel TCGA-AP-A0LI-01A-11W-A062-09 TCGA-AP-A0LI-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 75d67325-713c-4c63-9ef5-970d6b08e34d ce85e884-4682-44ce-ac4b-5125577d9634 NM_153700.2 -1 reviewed p.I1609 1.000 364 0% 263 23.2% 0 - - - - NULL STRC 161497 genome.wustl.edu 37 15 43896884 43896884 + Missense_Mutation SNP T T C novel TCGA-AP-A0LI-01A-11W-A062-09 TCGA-AP-A0LI-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 75d67325-713c-4c63-9ef5-970d6b08e34d ce85e884-4682-44ce-ac4b-5125577d9634 NM_153700.2 -1 reviewed p.E1364G 1.000 212 0% 161 19.9% 0 - benign(0.183) deleterious(0.03) neutral(0.382) NULL HERC1 8925 genome.wustl.edu 37 15 63932428 63932428 + Missense_Mutation SNP T T C novel TCGA-AP-A0LI-01A-11W-A062-09 TCGA-AP-A0LI-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 75d67325-713c-4c63-9ef5-970d6b08e34d ce85e884-4682-44ce-ac4b-5125577d9634 NM_003922.3 -1 reviewed p.N3942D 0.995 374 0% 334 15.3% 2 0% benign(0) - - NULL IGDCC3 9543 genome.wustl.edu 37 15 65621802 65621802 + Missense_Mutation SNP G G A novel TCGA-AP-A0LI-01A-11W-A062-09 TCGA-AP-A0LI-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 75d67325-713c-4c63-9ef5-970d6b08e34d ce85e884-4682-44ce-ac4b-5125577d9634 NM_004884.3 -1 validated p.R711C 0.030 110 0% 70 25.7% 0 - benign(0.007) deleterious(0.01) neutral(0.406) NULL CHRNB4 1143 genome.wustl.edu 37 15 78922152 78922152 + Missense_Mutation SNP C C G novel TCGA-AP-A0LI-01A-11W-A062-09 TCGA-AP-A0LI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 75d67325-713c-4c63-9ef5-970d6b08e34d ce85e884-4682-44ce-ac4b-5125577d9634 NM_000750.3 -1 validated p.Q165H 1.000 377 0% 350 16.6% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Neur_chan_LBD,superfamily_Neur_chan_LBD,PatternScan_NEUROTR_ION_CHANNEL NTRK3 4916 genome.wustl.edu 37 15 88679176 88679176 + Missense_Mutation SNP C C G novel TCGA-AP-A0LI-01A-11W-A062-09 TCGA-AP-A0LI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 75d67325-713c-4c63-9ef5-970d6b08e34d ce85e884-4682-44ce-ac4b-5125577d9634 NM_001012338.1 -1 reviewed p.E287D 1.000 207 0% 121 13.2% 1 0% possibly_damaging(0.88) tolerated(0.09) deleterious(0.639) HMMSmart_SM00409,superfamily_Immunoglobulin MYH11 4629 genome.wustl.edu 37 16 15829343 15829343 + Missense_Mutation SNP G G A novel TCGA-AP-A0LI-01A-11W-A062-09 TCGA-AP-A0LI-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 75d67325-713c-4c63-9ef5-970d6b08e34d ce85e884-4682-44ce-ac4b-5125577d9634 NM_001040114.1 -1 reviewed p.S1136L 0.999 253 0% 137 21.2% 44 0% possibly_damaging(0.508) deleterious(0.01) deleterious(0.576) HMMPfam_Myosin_tail_1 RNF167 26001 genome.wustl.edu 37 17 4848217 4848217 + Missense_Mutation SNP C C G novel TCGA-AP-A0LI-01A-11W-A062-09 TCGA-AP-A0LI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 75d67325-713c-4c63-9ef5-970d6b08e34d ce85e884-4682-44ce-ac4b-5125577d9634 NM_015528.1 +1 provisional p.S320C 1.000 530 0% 373 10.5% 309 18.7% probably_damaging(0.958) deleterious(0) deleterious(0.846) NULL TP53 7157 genome.wustl.edu 37 17 7577120 7577120 + Missense_Mutation SNP C C T novel TCGA-AP-A0LI-01A-11W-A062-09 TCGA-AP-A0LI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 75d67325-713c-4c63-9ef5-970d6b08e34d ce85e884-4682-44ce-ac4b-5125577d9634 NM_000546.4 -1 reviewed p.R273H 0.864 232 0% 122 42.6% 26 73% possibly_damaging(0.936) deleterious(0.01) deleterious(0.787) superfamily_p53-like transcription factors,HMMPfam_P53 ENSG00000251537 0 genome.wustl.edu 37 17 15499894 15499894 + Silent SNP G G A novel TCGA-AP-A0LI-01A-11W-A062-09 TCGA-AP-A0LI-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 75d67325-713c-4c63-9ef5-970d6b08e34d ce85e884-4682-44ce-ac4b-5125577d9634 ENST00000455584 -1 known p.T871I 1.000 159 0% 82 31.7% 0 - - - - HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 LRRC37B 114659 genome.wustl.edu 37 17 30362658 30362659 + Frame_Shift_Del DEL TG TG - novel TCGA-AP-A0LI-01A-11W-A062-09 TCGA-AP-A0LI-10A-01W-A062-09 TG TG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 75d67325-713c-4c63-9ef5-970d6b08e34d ce85e884-4682-44ce-ac4b-5125577d9634 NM_052888.2 +1 validated p.L708fs 1.000 - - - - - - - - - superfamily_L domain-like NLE1 54475 genome.wustl.edu 37 17 33466306 33466306 + Silent SNP G G A novel TCGA-AP-A0LI-01A-11W-A062-09 TCGA-AP-A0LI-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 75d67325-713c-4c63-9ef5-970d6b08e34d ce85e884-4682-44ce-ac4b-5125577d9634 NM_018096.3 -1 validated p.T136 1.000 78 0% 45 48.9% 7 71.4% - - - HMMSmart_SM00320,superfamily_WD40 repeat-like,PatternScan_WD_REPEATS_1,HMMPfam_WD40 ORMDL3 94103 genome.wustl.edu 37 17 38078867 38078867 + Missense_Mutation SNP C C T novel TCGA-AP-A0LI-01A-11W-A062-09 TCGA-AP-A0LI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 75d67325-713c-4c63-9ef5-970d6b08e34d ce85e884-4682-44ce-ac4b-5125577d9634 NM_139280.1 -1 provisional p.S133N 0.974 185 0% 111 58.6% 61 77% benign(0.054) deleterious(0.02) neutral(0.387) HMMPfam_ORMDL JUP 3728 genome.wustl.edu 37 17 39919534 39919534 + Missense_Mutation SNP G G C novel TCGA-AP-A0LI-01A-11W-A062-09 TCGA-AP-A0LI-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 75d67325-713c-4c63-9ef5-970d6b08e34d ce85e884-4682-44ce-ac4b-5125577d9634 NM_002230.2 -1 reviewed p.L400V 1.000 144 0% 89 27% 157 9.5% probably_damaging(0.986) tolerated(0.06) deleterious(0.757) HMMPfam_Arm,HMMSmart_ARM,superfamily_ARM-type_fold PRKAR1A 5573 genome.wustl.edu 37 17 66526520 66526520 + Missense_Mutation SNP T T G novel TCGA-AP-A0LI-01A-11W-A062-09 TCGA-AP-A0LI-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 75d67325-713c-4c63-9ef5-970d6b08e34d ce85e884-4682-44ce-ac4b-5125577d9634 NM_002734.3 +1 reviewed p.L359R 1.000 429 0% 340 50% 101 77.2% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_cNMP_binding,HMMSmart_SM00100,superfamily_cAMP-binding domain-like C18orf8 29919 genome.wustl.edu 37 18 21104433 21104433 + Silent SNP C C T novel TCGA-AP-A0LI-01A-11W-A062-09 TCGA-AP-A0LI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 75d67325-713c-4c63-9ef5-970d6b08e34d ce85e884-4682-44ce-ac4b-5125577d9634 NM_013326.3 +1 validated p.I349 1.000 219 0% 162 18.5% 9 11.1% - - - NULL ZNF823 55552 genome.wustl.edu 37 19 11833550 11833550 + Missense_Mutation SNP C C T novel TCGA-AP-A0LI-01A-11W-A062-09 TCGA-AP-A0LI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 75d67325-713c-4c63-9ef5-970d6b08e34d ce85e884-4682-44ce-ac4b-5125577d9634 NM_001080493.2 -1 validated p.E267K 0.095 379 0% 351 12.3% 5 20% benign(0.002) tolerated(0.3) neutral(0.029) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 PLEKHG2 64857 genome.wustl.edu 37 19 39909463 39909463 + Silent SNP C C T novel TCGA-AP-A0LI-01A-11W-A062-09 TCGA-AP-A0LI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 75d67325-713c-4c63-9ef5-970d6b08e34d ce85e884-4682-44ce-ac4b-5125577d9634 ENST00000205135 +1 known p.S288F 0.346 798 0% 789 11.8% 7 0% - - - HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like BCL2L12 83596 genome.wustl.edu 37 19 50172152 50172152 + Missense_Mutation SNP G G C novel TCGA-AP-A0LI-01A-11W-A062-09 TCGA-AP-A0LI-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 75d67325-713c-4c63-9ef5-970d6b08e34d ce85e884-4682-44ce-ac4b-5125577d9634 NM_138639.1 +1 reviewed p.E183Q 1.000 76 0% 63 11.1% 65 10.7% probably_damaging(0.959) deleterious(0.03) deleterious(0.767) NULL FAM210B 116151 genome.wustl.edu 37 20 54940226 54940239 + Frame_Shift_Del DEL AAAGATTTTTCAAG AAAGATTTTTCAAG - novel TCGA-AP-A0LI-01A-11W-A062-09 TCGA-AP-A0LI-10A-01W-A062-09 AAAGATTTTTCAAG AAAGATTTTTCAAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 75d67325-713c-4c63-9ef5-970d6b08e34d ce85e884-4682-44ce-ac4b-5125577d9634 NM_080821.2 +1 validated p.K91fs 0.989:0.997:0.997:0.990:0.960:0.959:0.045:0.997:1.000:0.999:1.000:1.000:1.000:1.000 - - - - - - - - - HMMPfam_DUF1279 HIC2 23119 genome.wustl.edu 37 22 21799472 21799472 + Missense_Mutation SNP C C G novel TCGA-AP-A0LI-01A-11W-A062-09 TCGA-AP-A0LI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 75d67325-713c-4c63-9ef5-970d6b08e34d ce85e884-4682-44ce-ac4b-5125577d9634 NM_015094.2 +1 validated p.I96M 1.000 141 0% 67 10.4% 3 33.3% possibly_damaging(0.903) deleterious(0) deleterious(0.802) HMMSmart_SM00225,superfamily_POZ domain,HMMPfam_BTB PARVB 29780 genome.wustl.edu 37 22 44536004 44536004 + Silent SNP G G A novel TCGA-AP-A0LI-01A-11W-A062-09 TCGA-AP-A0LI-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 75d67325-713c-4c63-9ef5-970d6b08e34d ce85e884-4682-44ce-ac4b-5125577d9634 NM_001003828.1 +1 validated p.E264 1.000 289 0% 155 29.7% 46 50% - - - superfamily_Calponin-homology ENSG00000211459 0 genome.wustl.edu 37 MT 734 734 + RNA SNP C C G novel TCGA-AP-A0LI-01A-11W-A062-09 TCGA-AP-A0LI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 75d67325-713c-4c63-9ef5-970d6b08e34d ce85e884-4682-44ce-ac4b-5125577d9634 ENST00000389680 +1 known NULL NULL 58 0% 35 28.6% 4375 40.5% - - - - ENSG00000198888 0 genome.wustl.edu 37 MT 3935 3935 + Missense_Mutation SNP G G A novel TCGA-AP-A0LI-01A-11W-A062-09 TCGA-AP-A0LI-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 75d67325-713c-4c63-9ef5-970d6b08e34d ce85e884-4682-44ce-ac4b-5125577d9634 ENST00000361390 +1 known p.G210D NULL 82 0% 37 51.4% 8042 45.7% probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMPfam_NADHdh,PatternScan_COMPLEX1_ND1_2 ENSG00000198888 0 genome.wustl.edu 37 MT 4153 4153 + Missense_Mutation SNP G G A novel TCGA-AP-A0LI-01A-11W-A062-09 TCGA-AP-A0LI-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 75d67325-713c-4c63-9ef5-970d6b08e34d ce85e884-4682-44ce-ac4b-5125577d9634 ENST00000361390 +1 known p.D283N NULL 67 0% 40 82.5% 8021 95.8% probably_damaging(0.956) deleterious(0) deleterious(0.844) HMMPfam_NADHdh ARSH 347527 genome.wustl.edu 37 X 2924728 2924728 + Silent SNP C C T novel TCGA-AP-A0LI-01A-11W-A062-09 TCGA-AP-A0LI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 75d67325-713c-4c63-9ef5-970d6b08e34d ce85e884-4682-44ce-ac4b-5125577d9634 NM_001011719.1 +1 validated p.Y25 0.712 254 0% 183 17.5% 0 - - - - HMMPfam_Sulfatase,superfamily_Alkaline_phosphatase_core ZNF674 641339 genome.wustl.edu 37 X 46359560 46359560 + Missense_Mutation SNP C C A novel TCGA-AP-A0LI-01A-11W-A062-09 TCGA-AP-A0LI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 75d67325-713c-4c63-9ef5-970d6b08e34d ce85e884-4682-44ce-ac4b-5125577d9634 NM_001039891.2 -1 validated p.Q488H 0.995 453 0.2% 350 11.7% 0 - probably_damaging(0.953) tolerated(0.15) deleterious(0.637) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 PORCN 64840 genome.wustl.edu 37 X 48370811 48370811 + Missense_Mutation SNP C C G novel TCGA-AP-A0LI-01A-11W-A062-09 TCGA-AP-A0LI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 75d67325-713c-4c63-9ef5-970d6b08e34d ce85e884-4682-44ce-ac4b-5125577d9634 ENST00000470275 +1 known p.L162V 1.000 27 0% 29 13.8% 19 0% - - - NULL NOX1 27035 genome.wustl.edu 37 X 100117462 100117462 + Missense_Mutation SNP C C G novel TCGA-AP-A0LI-01A-11W-A062-09 TCGA-AP-A0LI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 75d67325-713c-4c63-9ef5-970d6b08e34d ce85e884-4682-44ce-ac4b-5125577d9634 NM_007052.4 -1 reviewed p.R197P 0.984 740 0% 597 14.1% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ferric_reduct PASD1 139135 genome.wustl.edu 37 X 150840204 150840204 + Missense_Mutation SNP C C T novel TCGA-AP-A0LI-01A-11W-A062-09 TCGA-AP-A0LI-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 75d67325-713c-4c63-9ef5-970d6b08e34d ce85e884-4682-44ce-ac4b-5125577d9634 NM_173493.2 +1 reviewed p.L464F 0.000 450 0% 311 13.8% 0 - benign(0.04) tolerated(0.53) neutral(0.010) NULL GABRE 2564 genome.wustl.edu 37 X 151123939 151123939 + Silent SNP G G A novel TCGA-AP-A0LI-01A-11W-A062-09 TCGA-AP-A0LI-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 75d67325-713c-4c63-9ef5-970d6b08e34d ce85e884-4682-44ce-ac4b-5125577d9634 NM_004961.3 -1 reviewed p.I346 0.984 420 0% 350 11.4% 1 0% - - - HMMPfam_Neur_chan_memb,superfamily_Neu_channel_TM NSDHL 50814 genome.wustl.edu 37 X 152034405 152034405 + Missense_Mutation SNP A A T novel TCGA-AP-A0LI-01A-11W-A062-09 TCGA-AP-A0LI-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 75d67325-713c-4c63-9ef5-970d6b08e34d ce85e884-4682-44ce-ac4b-5125577d9634 NM_001129765.1 +1 reviewed p.T196S 0.004 243 0% 182 25.3% 30 0% benign(0.025) deleterious(0.01) neutral(0.407) HMMPfam_3Beta_HSD,superfamily_NAD(P)-bd