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 DNAJC11 55735 genome.wustl.edu 37 1 6727788 6727788 + Frame_Shift_Del DEL T T - novel TCGA-B5-A0K3-01A-11W-A062-09 TCGA-B5-A0K3-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a93cfa3-5fff-4f67-a0c2-d78b2a0dd641 9055f07e-0467-486b-ae0f-f04e944dff26 NM_018198.3 -1 validated p.Q120fs 1.000 - - - - - - - - - NULL GLIS1 148979 genome.wustl.edu 37 1 54060495 54060495 + Silent SNP C C T novel TCGA-B5-A0K3-01A-11W-A062-09 TCGA-B5-A0K3-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a93cfa3-5fff-4f67-a0c2-d78b2a0dd641 9055f07e-0467-486b-ae0f-f04e944dff26 NM_147193.2 -1 validated p.P27 0.056 15 0% 12 50% 0 - - - - NULL ATF3 467 genome.wustl.edu 37 1 212788581 212788581 + Missense_Mutation SNP G G A novel TCGA-B5-A0K3-01A-11W-A062-09 TCGA-B5-A0K3-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a93cfa3-5fff-4f67-a0c2-d78b2a0dd641 9055f07e-0467-486b-ae0f-f04e944dff26 NM_001030287.2 +1 reviewed p.G73E 0.999 44 0% 47 78.7% 1 100% benign(0) tolerated(1) - superfamily_A DNA-binding domain in eukaryotic transcription factors ACMSD 130013 genome.wustl.edu 37 2 135621176 135621176 + Missense_Mutation SNP C C T novel TCGA-B5-A0K3-01A-11W-A062-09 TCGA-B5-A0K3-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a93cfa3-5fff-4f67-a0c2-d78b2a0dd641 9055f07e-0467-486b-ae0f-f04e944dff26 NM_138326.2 +1 validated p.A154V 0.152 112 0% 120 30% 0 - possibly_damaging(0.632) deleterious(0.02) deleterious(0.604) HMMPfam_Amidohydro_2,superfamily_Metallo-dependent hydrolases MARCH7 64844 genome.wustl.edu 37 2 160608959 160608959 + Missense_Mutation SNP A A T novel TCGA-B5-A0K3-01A-11W-A062-09 TCGA-B5-A0K3-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a93cfa3-5fff-4f67-a0c2-d78b2a0dd641 9055f07e-0467-486b-ae0f-f04e944dff26 NM_022826.2 +1 validated p.I554F 1.000 138 0% 110 46.4% 20 45% probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMSmart_RINGv,HMMPfam_zf-C3HC4,superfamily_SSF57850 KCNH7 90134 genome.wustl.edu 37 2 163302815 163302815 + Missense_Mutation SNP T T A novel TCGA-B5-A0K3-01A-11W-A062-09 TCGA-B5-A0K3-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a93cfa3-5fff-4f67-a0c2-d78b2a0dd641 9055f07e-0467-486b-ae0f-f04e944dff26 NM_033272.2 -1 reviewed p.I423L 1.000 106 0% 106 31.1% 0 - benign(0.111) deleterious(0.01) neutral(0.414) superfamily_Voltage-gated potassium channels TTN 7273 genome.wustl.edu 37 2 179585878 179585878 + Missense_Mutation SNP C C A novel TCGA-B5-A0K3-01A-11W-A062-09 TCGA-B5-A0K3-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a93cfa3-5fff-4f67-a0c2-d78b2a0dd641 9055f07e-0467-486b-ae0f-f04e944dff26 ENST00000356127 -1 known p.G6379V 1.000 129 0% 122 41.8% 0 - unknown(0) - - HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set TTN 7273 genome.wustl.edu 37 2 179594419 179594419 + Silent SNP C C T novel TCGA-B5-A0K3-01A-11W-A062-09 TCGA-B5-A0K3-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a93cfa3-5fff-4f67-a0c2-d78b2a0dd641 9055f07e-0467-486b-ae0f-f04e944dff26 ENST00000356127 -1 known p.A4943 1.000 379 0% 361 38.8% 0 - - - - HMMSmart_SM00409,HMMPfam_I-set ALS2 57679 genome.wustl.edu 37 2 202622444 202622444 + Silent SNP C C T novel TCGA-B5-A0K3-01A-11W-A062-09 TCGA-B5-A0K3-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a93cfa3-5fff-4f67-a0c2-d78b2a0dd641 9055f07e-0467-486b-ae0f-f04e944dff26 NM_020919.3 -1 reviewed p.P384 0.992 165 0% 172 40.7% 3 0% - - - NULL EPHB1 2047 genome.wustl.edu 37 3 134967172 134967172 + Silent SNP C C T rs143367042 TCGA-B5-A0K3-01A-11W-A062-09 TCGA-B5-A0K3-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a93cfa3-5fff-4f67-a0c2-d78b2a0dd641 9055f07e-0467-486b-ae0f-f04e944dff26 NM_004441.4 +1 reviewed p.I837 0.022 99 0% 104 45.2% 1 100% - - - HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) PIK3CA 5290 genome.wustl.edu 37 3 178916936 178916936 + Missense_Mutation SNP G G A novel TCGA-B5-A0K3-01A-11W-A062-09 TCGA-B5-A0K3-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a93cfa3-5fff-4f67-a0c2-d78b2a0dd641 9055f07e-0467-486b-ae0f-f04e944dff26 NM_006218.2 +1 reviewed p.R108H 1.000 152 0% 260 66.9% 2 0% possibly_damaging(0.945) tolerated(0.06) deleterious(0.712) HMMPfam_PI3K_p85B,HMMSmart_PI3K_p85B,superfamily_SSF54236 LMLN 89782 genome.wustl.edu 37 3 197765764 197765783 + RNA DEL CCAACCACCTCGTCAGCAAC CCAACCACCTCGTCAGCAAC - novel TCGA-B5-A0K3-01A-11W-A062-09 TCGA-B5-A0K3-10A-01W-A062-09 CCAACCACCTCGTCAGCAAC CCAACCACCTCGTCAGCAAC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a93cfa3-5fff-4f67-a0c2-d78b2a0dd641 9055f07e-0467-486b-ae0f-f04e944dff26 NR_026786.1 +1 reviewed NULL 0.971:0.959:0.901:0.867:0.858:0.787:0.708:0.651:0.287:0.226:0.185:0.169:0.950:0.966:0.978:0.992:0.994:0.996:0.996:0.994 - - - - - - - - - - GAK 2580 genome.wustl.edu 37 4 858938 858938 + Silent SNP C C T novel TCGA-B5-A0K3-01A-11W-A062-09 TCGA-B5-A0K3-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a93cfa3-5fff-4f67-a0c2-d78b2a0dd641 9055f07e-0467-486b-ae0f-f04e944dff26 ENST00000511980 -1 known p.R158Q 0.000 20 0% 14 50% 50 50% - - - NULL ADAMTS16 170690 genome.wustl.edu 37 5 5146570 5146570 + Splice_Site SNP T T C novel TCGA-B5-A0K3-01A-11W-A062-09 TCGA-B5-A0K3-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a93cfa3-5fff-4f67-a0c2-d78b2a0dd641 9055f07e-0467-486b-ae0f-f04e944dff26 NM_139056.2 +1 reviewed e3+2 1.000 102 0% 112 39.3% 0 - - - - - C5orf42 65250 genome.wustl.edu 37 5 37168962 37168962 + Silent SNP T T C novel TCGA-B5-A0K3-01A-11W-A062-09 TCGA-B5-A0K3-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a93cfa3-5fff-4f67-a0c2-d78b2a0dd641 9055f07e-0467-486b-ae0f-f04e944dff26 NM_023073.3 -1 predicted p.Q1268 0.001 182 0% 166 41% 5 40% - - - NULL PIK3R1 5295 genome.wustl.edu 37 5 67589236 67589236 + Nonsense_Mutation SNP C C A novel TCGA-B5-A0K3-01A-11W-A062-09 TCGA-B5-A0K3-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a93cfa3-5fff-4f67-a0c2-d78b2a0dd641 9055f07e-0467-486b-ae0f-f04e944dff26 NM_181523.1 +1 reviewed p.Y408* 1.000 83 0% 93 43% 2 0% - - - HMMPfam_SH2,HMMSmart_SM00252,superfamily_SH2 domain SNCAIP 9627 genome.wustl.edu 37 5 121761103 121761103 + Missense_Mutation SNP A A G novel TCGA-B5-A0K3-01A-11W-A062-09 TCGA-B5-A0K3-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a93cfa3-5fff-4f67-a0c2-d78b2a0dd641 9055f07e-0467-486b-ae0f-f04e944dff26 ENST00000395466 +1 known p.I63V 0.954 175 0% 182 42.3% 1 0% unknown(0) - - NULL CDSN 1041 genome.wustl.edu 37 6 31084618 31084618 + Silent SNP G G A novel TCGA-B5-A0K3-01A-11W-A062-09 TCGA-B5-A0K3-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a93cfa3-5fff-4f67-a0c2-d78b2a0dd641 9055f07e-0467-486b-ae0f-f04e944dff26 NM_001264.3 -1 reviewed p.D258 1.000 91 0% 136 35.3% 1 0% - - - NULL RGL2 5863 genome.wustl.edu 37 6 33260284 33260284 + Missense_Mutation SNP C C A novel TCGA-B5-A0K3-01A-11W-A062-09 TCGA-B5-A0K3-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a93cfa3-5fff-4f67-a0c2-d78b2a0dd641 9055f07e-0467-486b-ae0f-f04e944dff26 NM_004761.3 -1 validated p.R682L 1.000 104 0% 90 44.4% 39 56.4% benign(0.185) deleterious(0.01) neutral(0.423) HMMPfam_RA,HMMSmart_SM00314,superfamily_Ubiquitin-like PKD1L1 168507 genome.wustl.edu 37 7 47921646 47921646 + Missense_Mutation SNP C C A novel TCGA-B5-A0K3-01A-11W-A062-09 TCGA-B5-A0K3-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a93cfa3-5fff-4f67-a0c2-d78b2a0dd641 9055f07e-0467-486b-ae0f-f04e944dff26 NM_138295.2 -1 reviewed p.L1101F 0.000 85 1.2% 132 22% 0 - benign(0.125) tolerated(0.09) neutral(0.307) NULL PHKG1 5260 genome.wustl.edu 37 7 56151072 56151072 + Missense_Mutation SNP C C T novel TCGA-B5-A0K3-01A-11W-A062-09 TCGA-B5-A0K3-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a93cfa3-5fff-4f67-a0c2-d78b2a0dd641 9055f07e-0467-486b-ae0f-f04e944dff26 NM_006213.3 -1 reviewed p.R149Q 1.000 70 0% 64 39.1% 1 0% probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase FUT10 84750 genome.wustl.edu 37 8 33318926 33318926 + Silent SNP G G A rs190595975 by1000genomes TCGA-B5-A0K3-01A-11W-A062-09 TCGA-B5-A0K3-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a93cfa3-5fff-4f67-a0c2-d78b2a0dd641 9055f07e-0467-486b-ae0f-f04e944dff26 NM_032664.3 -1 validated p.C15 0.124 70 0% 82 12.2% 4 0% - - - HMMPfam_Glyco_transf_10 CSMD3 114788 genome.wustl.edu 37 8 113418769 113418769 + Silent SNP G G A novel TCGA-B5-A0K3-01A-11W-A062-09 TCGA-B5-A0K3-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a93cfa3-5fff-4f67-a0c2-d78b2a0dd641 9055f07e-0467-486b-ae0f-f04e944dff26 NM_198123.1 -1 validated p.S1931 0.998 128 0% 102 37.3% 0 - - - - HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain FER1L6 654463 genome.wustl.edu 37 8 124968257 124968257 + Missense_Mutation SNP A A G novel TCGA-B5-A0K3-01A-11W-A062-09 TCGA-B5-A0K3-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a93cfa3-5fff-4f67-a0c2-d78b2a0dd641 9055f07e-0467-486b-ae0f-f04e944dff26 NM_001039112.2 +1 validated p.K7E 1.000 38 0% 39 41% 0 - possibly_damaging(0.722) deleterious(0) deleterious(0.707) NULL GATA3 2625 genome.wustl.edu 37 10 8115824 8115824 + Silent SNP G G A novel TCGA-B5-A0K3-01A-11W-A062-09 TCGA-B5-A0K3-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a93cfa3-5fff-4f67-a0c2-d78b2a0dd641 9055f07e-0467-486b-ae0f-f04e944dff26 NM_001002295.1 +1 reviewed p.S391 0.952 145 0% 144 43.1% 3 33.3% - - - NULL CYP2C8 1558 genome.wustl.edu 37 10 96827092 96827092 + Missense_Mutation SNP C C G novel TCGA-B5-A0K3-01A-11W-A062-09 TCGA-B5-A0K3-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a93cfa3-5fff-4f67-a0c2-d78b2a0dd641 9055f07e-0467-486b-ae0f-f04e944dff26 NM_000770.3 -1 reviewed p.K118N 0.000 480 0% 540 41.9% 0 - unknown(0) - - HMMPfam_p450,superfamily_Cytochrome_P450 CNNM1 26507 genome.wustl.edu 37 10 101117372 101117372 + Missense_Mutation SNP G G T novel TCGA-B5-A0K3-01A-11W-A062-09 TCGA-B5-A0K3-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a93cfa3-5fff-4f67-a0c2-d78b2a0dd641 9055f07e-0467-486b-ae0f-f04e944dff26 NM_020348.2 +1 validated p.E559D 1.000 152 0% 156 40.4% 0 - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_CBS,HMMSmart_CBS C10orf46 143384 genome.wustl.edu 37 10 120467080 120467081 + Frame_Shift_Ins INS - - AG novel TCGA-B5-A0K3-01A-11W-A062-09 TCGA-B5-A0K3-10A-01W-A062-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a93cfa3-5fff-4f67-a0c2-d78b2a0dd641 9055f07e-0467-486b-ae0f-f04e944dff26 NM_153810.4 -1 validated p.Y206fs 1.000:1.000 - - - - - - - - - HMMPfam_Cullin,superfamily_Cullin repeat ATG16L2 89849 genome.wustl.edu 37 11 72535873 72535873 + Missense_Mutation SNP G G C novel TCGA-B5-A0K3-01A-11W-A062-09 TCGA-B5-A0K3-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a93cfa3-5fff-4f67-a0c2-d78b2a0dd641 9055f07e-0467-486b-ae0f-f04e944dff26 NM_033388.1 +1 validated p.A328P 0.953 33 0% 16 87.5% 13 61.5% possibly_damaging(0.437) deleterious(0.02) deleterious(0.525) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 KCNA1 3736 genome.wustl.edu 37 12 5020711 5020711 + Missense_Mutation SNP C C T novel TCGA-B5-A0K3-01A-11W-A062-09 TCGA-B5-A0K3-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a93cfa3-5fff-4f67-a0c2-d78b2a0dd641 9055f07e-0467-486b-ae0f-f04e944dff26 NM_000217.2 +1 reviewed p.A56V 1.000 60 0% 61 18% 0 - benign(0.111) tolerated(0.29) neutral(0.038) HMMSmart_BTB,HMMPfam_K_tetra,superfamily_BTB/POZ_fold KRAS 3845 genome.wustl.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C G rs121913529 byCluster TCGA-B5-A0K3-01A-11W-A062-09 TCGA-B5-A0K3-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a93cfa3-5fff-4f67-a0c2-d78b2a0dd641 9055f07e-0467-486b-ae0f-f04e944dff26 NM_033360.2 -1 reviewed p.G12A 1.000 84 1.2% 45 37.8% 10 80% possibly_damaging(0.434) deleterious(0.03) deleterious(0.506) HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases GLI1 2735 genome.wustl.edu 37 12 57864433 57864433 + Missense_Mutation SNP G G A novel TCGA-B5-A0K3-01A-11W-A062-09 TCGA-B5-A0K3-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a93cfa3-5fff-4f67-a0c2-d78b2a0dd641 9055f07e-0467-486b-ae0f-f04e944dff26 NM_005269.2 +1 reviewed p.R637Q 1.000 56 0% 38 50% 0 - probably_damaging(0.994) deleterious(0) deleterious(0.897) NULL MPHOSPH9 10198 genome.wustl.edu 37 12 123687292 123687292 + Missense_Mutation SNP C C T novel TCGA-B5-A0K3-01A-11W-A062-09 TCGA-B5-A0K3-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a93cfa3-5fff-4f67-a0c2-d78b2a0dd641 9055f07e-0467-486b-ae0f-f04e944dff26 NM_022782.2 -1 validated p.E402K 1.000 143 0% 164 46.3% 5 80% possibly_damaging(0.938) deleterious(0.02) deleterious(0.766) NULL MTIF3 219402 genome.wustl.edu 37 13 28014332 28014332 + Missense_Mutation SNP C C T novel TCGA-B5-A0K3-01A-11W-A062-09 TCGA-B5-A0K3-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a93cfa3-5fff-4f67-a0c2-d78b2a0dd641 9055f07e-0467-486b-ae0f-f04e944dff26 NM_152912.4 -1 reviewed p.R85Q 0.971 525 0.2% 541 38.1% 21 42.8% probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_IF3_N,superfamily_Translation initiation factor IF3 N-terminal domain NBEA 26960 genome.wustl.edu 37 13 35756573 35756573 + Missense_Mutation SNP G G A novel TCGA-B5-A0K3-01A-11W-A062-09 TCGA-B5-A0K3-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a93cfa3-5fff-4f67-a0c2-d78b2a0dd641 9055f07e-0467-486b-ae0f-f04e944dff26 NM_015678.4 +1 validated p.R1580H 1.000 201 0% 204 33.8% 1 100% probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_ARM repeat PRMT5 10419 genome.wustl.edu 37 14 23393388 23393388 + Missense_Mutation SNP C C G novel TCGA-B5-A0K3-01A-11W-A062-09 TCGA-B5-A0K3-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a93cfa3-5fff-4f67-a0c2-d78b2a0dd641 9055f07e-0467-486b-ae0f-f04e944dff26 NM_006109.3 -1 validated p.E402Q 1.000 358 0% 349 42.4% 115 45.2% benign(0.023) tolerated(0.75) neutral(0.003) HMMPfam_PRMT5,superfamily_S-adenosyl-L-methionine-dependent methyltransferases IGHE 3497 genome.wustl.edu 37 14 106067360 106067360 + Missense_Mutation SNP G G T novel TCGA-B5-A0K3-01A-11W-A062-09 TCGA-B5-A0K3-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a93cfa3-5fff-4f67-a0c2-d78b2a0dd641 9055f07e-0467-486b-ae0f-f04e944dff26 ENST00000390541 -1 known p.Q167K 0.000 14 0% 17 82.4% 0 - benign(0.165) tolerated(0.25) neutral(0.052) HMMPfam_C1-set,HMMSmart_IGc1,superfamily_SSF48726 CSPG4 1464 genome.wustl.edu 37 15 75982915 75982915 + Missense_Mutation SNP C C T novel TCGA-B5-A0K3-01A-11W-A062-09 TCGA-B5-A0K3-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a93cfa3-5fff-4f67-a0c2-d78b2a0dd641 9055f07e-0467-486b-ae0f-f04e944dff26 NM_001897.4 -1 reviewed p.R164Q 0.867 11 0.000 8 0.500 0 - probably_damaging(0.976) tolerated(0.55) neutral(0.425) HMMSmart_SM00282,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2 CTNS 1497 genome.wustl.edu 37 17 3563642 3563642 + Silent SNP G G C novel TCGA-B5-A0K3-01A-11W-A062-09 TCGA-B5-A0K3-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a93cfa3-5fff-4f67-a0c2-d78b2a0dd641 9055f07e-0467-486b-ae0f-f04e944dff26 NM_001031681.2 +1 reviewed p.P361 0.927 43 0% 36 91.7% 11 100% - - - NULL KIAA0753 9851 genome.wustl.edu 37 17 6531785 6531785 + Missense_Mutation SNP T T C novel TCGA-B5-A0K3-01A-11W-A062-09 TCGA-B5-A0K3-10A-01W-A062-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a93cfa3-5fff-4f67-a0c2-d78b2a0dd641 9055f07e-0467-486b-ae0f-f04e944dff26 NM_014804.2 -1 validated p.S124G 0.009 183 0% 116 16.4% 3 0% benign(0.019) deleterious(0) neutral(0.446) NULL TP53 7157 genome.wustl.edu 37 17 7578398 7578398 + Missense_Mutation SNP G G C rs68130327 TCGA-B5-A0K3-01A-11W-A062-09 TCGA-B5-A0K3-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a93cfa3-5fff-4f67-a0c2-d78b2a0dd641 9055f07e-0467-486b-ae0f-f04e944dff26 NM_000546.4 -1 reviewed p.H178D 1.000 131 0% 66 84.8% 100 97% possibly_damaging(0.711) deleterious(0.01) deleterious(0.663) superfamily_p53-like transcription factors,HMMPfam_P53 OSBPL7 114881 genome.wustl.edu 37 17 45886525 45886525 + Missense_Mutation SNP C C T novel TCGA-B5-A0K3-01A-11W-A062-09 TCGA-B5-A0K3-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a93cfa3-5fff-4f67-a0c2-d78b2a0dd641 9055f07e-0467-486b-ae0f-f04e944dff26 NM_145798.2 -1 reviewed p.R696H 0.858 114 0% 318 19.5% 32 25% possibly_damaging(0.938) deleterious(0.01) deleterious(0.789) HMMPfam_Oxysterol_BP UPF1 5976 genome.wustl.edu 37 19 18967730 18967730 + Silent SNP G G A novel TCGA-B5-A0K3-01A-11W-A062-09 TCGA-B5-A0K3-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a93cfa3-5fff-4f67-a0c2-d78b2a0dd641 9055f07e-0467-486b-ae0f-f04e944dff26 NM_002911.3 +1 reviewed p.P623 0.027 34 0.000 8 0.625 62 43.5% - - - superfamily_SSF52540 SULT2A1 6822 genome.wustl.edu 37 19 48386910 48386910 + Missense_Mutation SNP G G A novel TCGA-B5-A0K3-01A-11W-A062-09 TCGA-B5-A0K3-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a93cfa3-5fff-4f67-a0c2-d78b2a0dd641 9055f07e-0467-486b-ae0f-f04e944dff26 NM_003167.3 -1 reviewed p.T90M 0.000 197 0% 203 37.4% 0 - benign(0) tolerated(0.13) neutral(0.253) HMMPfam_Sulfotransfer_1,superfamily_P-loop containing nucleoside triphosphate hydrolases ZNF460 10794 genome.wustl.edu 37 19 57802716 57802716 + Silent SNP G G A novel TCGA-B5-A0K3-01A-11W-A062-09 TCGA-B5-A0K3-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a93cfa3-5fff-4f67-a0c2-d78b2a0dd641 9055f07e-0467-486b-ae0f-f04e944dff26 NM_006635.3 +1 validated p.R269 0.646 203 0% 225 46.7% 4 25% - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 PLAGL2 5326 genome.wustl.edu 37 20 30784823 30784823 + Missense_Mutation SNP G G A novel TCGA-B5-A0K3-01A-11W-A062-09 TCGA-B5-A0K3-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a93cfa3-5fff-4f67-a0c2-d78b2a0dd641 9055f07e-0467-486b-ae0f-f04e944dff26 NM_002657.3 -1 reviewed p.T308M 0.311 171 0% 217 49.3% 68 50% benign(0.063) deleterious(0.03) neutral(0.368) NULL SERINC3 10955 genome.wustl.edu 37 20 43142575 43142575 + Missense_Mutation SNP C C T novel TCGA-B5-A0K3-01A-11W-A062-09 TCGA-B5-A0K3-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a93cfa3-5fff-4f67-a0c2-d78b2a0dd641 9055f07e-0467-486b-ae0f-f04e944dff26 NM_006811.2 -1 validated p.S49N 1.000 148 0% 144 45.1% 48 35.4% benign(0.062) deleterious(0) neutral(0.449) HMMPfam_Serinc LOC649264 649264 genome.wustl.edu 37 22 23715928 23715928 + Missense_Mutation SNP C C T novel TCGA-B5-A0K3-01A-11W-A062-09 TCGA-B5-A0K3-10A-01W-A062-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a93cfa3-5fff-4f67-a0c2-d78b2a0dd641 9055f07e-0467-486b-ae0f-f04e944dff26 XM_001131286.2 -1 model p.D61N 1.000 16 0% 27 33.3% 9 0% - - - HMMPfam_COesterase,superfamily_alpha/beta-Hydrolases TCN2 6948 genome.wustl.edu 37 22 31011586 31011586 + Splice_Site SNP A A G novel TCGA-B5-A0K3-01A-11W-A062-09 TCGA-B5-A0K3-10A-01W-A062-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a93cfa3-5fff-4f67-a0c2-d78b2a0dd641 9055f07e-0467-486b-ae0f-f04e944dff26 NM_000355.3 +1 reviewed e6-2 0.993 66 0% 67 52.2% 0 - - - - - PRRG1 5638 genome.wustl.edu 37 X 37312736 37312736 + Silent SNP G G A novel TCGA-B5-A0K3-01A-11W-A062-09 TCGA-B5-A0K3-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a93cfa3-5fff-4f67-a0c2-d78b2a0dd641 9055f07e-0467-486b-ae0f-f04e944dff26 NM_000950.2 +1 reviewed p.E173 1.000 125 0% 175 10.9% 2 0% - - - NULL WDR45 11152 genome.wustl.edu 37 X 48932903 48932903 + Nonsense_Mutation SNP G G A novel TCGA-B5-A0K3-01A-11W-A062-09 TCGA-B5-A0K3-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a93cfa3-5fff-4f67-a0c2-d78b2a0dd641 9055f07e-0467-486b-ae0f-f04e944dff26 NM_007075.3 -1 reviewed p.Q290* 1.000 65 0% 39 33.3% 105 0.9% - - - superfamily_WD40_like BRCC3 79184 genome.wustl.edu 37 X 154305454 154305454 + Missense_Mutation SNP G G A novel TCGA-B5-A0K3-01A-11W-A062-09 TCGA-B5-A0K3-10A-01W-A062-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4a93cfa3-5fff-4f67-a0c2-d78b2a0dd641 9055f07e-0467-486b-ae0f-f04e944dff26 NM_024332.2 +1 reviewed p.V69I 0.000 130 0% 95 32.6% 43 0% benign(0.001) tolerated(0.48) neutral(0.011) HMMPfam_Mov34,HMMSmart_SM00232,superfamily_JAB1/MPN domain