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 ZBTB17 7709 genome.wustl.edu 37 1 16270876 16270876 + Missense_Mutation SNP G G A novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b ENST00000375729 -1 known p.H16Y 1.000 79 0% 84 15.5% - - unknown(0) deleterious(0) - NULL PADI4 23569 genome.wustl.edu 37 1 17666277 17666277 + Missense_Mutation SNP G G C novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_012387.2 +1 reviewed p.E207D 0.995 72 0% 63 20.6% - - benign(0.001) tolerated(1) - HMMPfam_PAD_M,superfamily_Peptidylarginine deiminase Pad4 middle domain RCC2 55920 genome.wustl.edu 37 1 17743131 17743131 + Missense_Mutation SNP C C G novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_001136204.1 -1 validated p.D291H 1.000 39 0% 17 35.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_RCC1/BLIP-II TINAGL1 64129 genome.wustl.edu 37 1 32050567 32050567 + Missense_Mutation SNP G G C novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_022164.2 +1 validated p.D263H 1.000 51 0% 66 13.6% - - probably_damaging(1) tolerated(0.18) deleterious(0.556) HMMPfam_Peptidase_C1,HMMSmart_SM00645,superfamily_Cysteine proteinases ZSCAN20 7579 genome.wustl.edu 37 1 33954722 33954722 + Silent SNP C C T novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_145238.3 +1 validated p.L204 0.995 124 0% 123 15.4% - - - - - NULL ZMYM1 79830 genome.wustl.edu 37 1 35580507 35580507 + Nonsense_Mutation SNP G G T novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_024772.3 +1 validated p.E1026* 1.000 83 0% 75 21.3% - - - - - NULL ZMPSTE24 10269 genome.wustl.edu 37 1 40733536 40733536 + Missense_Mutation SNP G G C novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_005857.3 +1 reviewed p.E117Q 1.000 187 0% 177 10.7% - - possibly_damaging(0.61) tolerated(0.24) neutral(0.249) NULL KIF2C 11004 genome.wustl.edu 37 1 45216158 45216158 + Missense_Mutation SNP C C T novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_006845.3 +1 validated p.R121C 0.000 46 0% 19 36.8% - - benign(0) deleterious(0) neutral(0.445) NULL RAD54L 8438 genome.wustl.edu 37 1 46714183 46714183 + Splice_Site SNP G G C novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_001142548.1 +1 reviewed e2-1 1.000 68 0% 66 16.7% - - - - - - LRRC41 10489 genome.wustl.edu 37 1 46746143 46746143 + Silent SNP G G A novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_006369.4 -1 validated p.L616 1.000 40 0% 38 10.5% - - - - - superfamily_RNI-like CC2D1B 200014 genome.wustl.edu 37 1 52823512 52823512 + Nonsense_Mutation SNP G G T novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_032449.1 -1 validated p.S513* 0.043 38 0% 38 18.4% - - - - - NULL LEPROT 54741 genome.wustl.edu 37 1 65895638 65895638 + Silent SNP C C T novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_017526.3 +1 validated p.T62 0.234 192 0% 185 28.1% - - - - - HMMPfam_Vps55 EPHX4 253152 genome.wustl.edu 37 1 92498145 92498145 + Missense_Mutation SNP C C G novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_173567.4 +1 validated p.F105L 1.000 118 0% 83 31.3% - - probably_damaging(0.973) tolerated(0.33) neutral(0.439) superfamily_SSF53474 RWDD3 25950 genome.wustl.edu 37 1 95710070 95710070 + Nonsense_Mutation SNP C C G novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_015485.4 +1 validated p.S130* 0.055 66 0% 62 14.5% - - - - - NULL CCDC76 54482 genome.wustl.edu 37 1 100613473 100613473 + Missense_Mutation SNP G G A novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_019083.2 +1 validated p.E281K 1.000 53 0% 47 36.2% - - possibly_damaging(0.903) tolerated(0.42) neutral(0.372) HMMPfam_TRM13 NOTCH2 4853 genome.wustl.edu 37 1 120479957 120479957 + Missense_Mutation SNP G G T novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_024408.2 -1 reviewed p.P1157H 1.000 59 0% 42 14.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_EGF_CA,HMMPfam_EGF,PatternScan_EGF_CA,superfamily_SSF57196 LCE3A 353142 genome.wustl.edu 37 1 152595404 152595404 + Missense_Mutation SNP C C T novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_178431.1 -1 validated p.R59H 0.000 32 0% 59 76.3% - - unknown(0) - - NULL LCE2C 353140 genome.wustl.edu 37 1 152648708 152648708 + Missense_Mutation SNP C C G novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_178429.2 +1 validated p.L73V 0.991 78 0% 116 10.3% - - unknown(0) - - NULL C1orf189 388701 genome.wustl.edu 37 1 154171974 154171974 + Missense_Mutation SNP C C G novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_001010979.1 -1 predicted p.E79Q 1.000 147 0% 201 10.4% - - possibly_damaging(0.777) tolerated(0.14) deleterious(0.539) NULL FDPS 2224 genome.wustl.edu 37 1 155288689 155288689 + Missense_Mutation SNP C C G novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_001135821.1 +1 reviewed p.F272L 1.000 61 0% 81 12.3% - - benign(0.256) deleterious(0.02) neutral(0.410) HMMPfam_polyprenyl_synt,superfamily_Terpenoid_synth KIAA0907 22889 genome.wustl.edu 37 1 155885695 155885695 + Missense_Mutation SNP C C G novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_014949.2 -1 predicted p.R538S 1.000 151 0% 185 11.4% - - benign(0.323) deleterious(0.01) deleterious(0.507) NULL TNN 63923 genome.wustl.edu 37 1 175049327 175049327 + Silent SNP C C T novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_022093.1 +1 validated p.L271 1.000 33 0% 65 10.8% - - - - - HMMPfam_fn3,HMMSmart_SM00060 RGS2 5997 genome.wustl.edu 37 1 192780185 192780185 + Missense_Mutation SNP G G C novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_002923.3 +1 reviewed p.E117Q 1.000 103 0% 116 12.9% - - probably_damaging(0.994) deleterious(0) deleterious(0.897) HMMPfam_RGS,HMMSmart_RGS,superfamily_Regulat_G_prot_signal_superfam CR1L 1379 genome.wustl.edu 37 1 207890930 207890930 + Missense_Mutation SNP G G A novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_175710.1 +1 validated p.M512I 0.027 91 0% 167 10.8% - - benign(0.253) tolerated(0.08) neutral(0.326) HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain USH2A 7399 genome.wustl.edu 37 1 215853512 215853512 + Missense_Mutation SNP C C T novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_206933.2 -1 reviewed p.M4091I 0.000 91 0% 139 14.4% - - benign(0.002) tolerated(0.16) neutral(0.059) HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III RYR2 6262 genome.wustl.edu 37 1 237729991 237729991 + Missense_Mutation SNP G G C novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_001035.2 +1 reviewed p.M1113I 1.000 73 0% 97 38.1% - - possibly_damaging(0.484) - - HMMPfam_SPRY,HMMSmart_SM00449 SMYD3 64754 genome.wustl.edu 37 1 245912938 245912938 + Missense_Mutation SNP C C A novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_022743.2 -1 validated p.G346V 1.000 57 0% 81 54.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL PXDN 7837 genome.wustl.edu 37 2 1642669 1642669 + Missense_Mutation SNP G G C novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_012293.1 -1 validated p.F1385L 1.000 106 0% 150 18% - - benign(0) tolerated(0.73) neutral(0.002) NULL C2orf84 653140 genome.wustl.edu 37 2 24390507 24390507 + Missense_Mutation SNP C C T rs191360469 by1000genomes TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b ENST00000454150 +1 known p.P314L 0.001 101 0% 136 68.4% - - benign(0.002) deleterious(0) neutral(0.445) NULL OTOF 9381 genome.wustl.edu 37 2 26739408 26739408 + Silent SNP G G A novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_194248.2 -1 reviewed p.D129 0.494 31 0% 30 63.3% - - - - - NULL SLC4A1AP 22950 genome.wustl.edu 37 2 27890248 27890248 + Missense_Mutation SNP G G C novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_018158.2 +1 validated p.D379H 1.000 38 0% 33 15.2% - - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_dsrm,HMMSmart_DSRM QPCT 25797 genome.wustl.edu 37 2 37579968 37579968 + Missense_Mutation SNP C C T novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_012413.3 +1 reviewed p.L53F 0.965 77 0% 96 13.5% - - possibly_damaging(0.648) deleterious(0.01) deleterious(0.633) NULL DYNC2LI1 51626 genome.wustl.edu 37 2 44021770 44021770 + Silent SNP G G T novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_016008.2 +1 validated p.P165 0.986 87 0% 101 24.8% - - - - - superfamily_P-loop containing nucleoside triphosphate hydrolases SIX2 10736 genome.wustl.edu 37 2 45235711 45235711 + Missense_Mutation SNP C C A novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_016932.4 -1 reviewed p.R180L 1.000 28 0% 42 21.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Homeobox,HMMSmart_HOX,superfamily_Homeodomain_like,PatternScan_HOMEOBOX_1 BMP10 27302 genome.wustl.edu 37 2 69093467 69093467 + Missense_Mutation SNP T T C novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_014482.1 -1 reviewed p.I191V 1.000 98 0% 78 26.9% - - benign(0.001) tolerated(0.48) neutral(0.011) HMMPfam_TGFb_propeptide DYSF 8291 genome.wustl.edu 37 2 71743363 71743363 + Missense_Mutation SNP C C G novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_001130987.1 +1 reviewed p.I314M 1.000 179 0% 228 13.2% - - possibly_damaging(0.496) deleterious(0) deleterious(0.610) HMMPfam_C2,HMMSmart_C2,superfamily_C2_CaLB TACR1 6869 genome.wustl.edu 37 2 75347789 75347789 + Missense_Mutation SNP C C G novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_001058.3 -1 reviewed p.Q165H 1.000 34 0% 52 17.3% - - probably_damaging(0.999) tolerated(0.55) deleterious(0.497) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like DNAH6 1768 genome.wustl.edu 37 2 84934748 84934748 + Missense_Mutation SNP G G A novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_001370.1 +1 validated p.E2986K 0.927 79 0% 109 18.3% - - benign(0.095) tolerated(0.84) neutral(0.007) NULL MRPL35 51318 genome.wustl.edu 37 2 86426624 86426624 + Missense_Mutation SNP C C T novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_016622.3 +1 reviewed p.S4F 0.000 41 0% 47 12.8% - - unknown(0) deleterious(0.01) - NULL SLC35F5 80255 genome.wustl.edu 37 2 114513101 114513101 + Missense_Mutation SNP G G C novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_025181.2 -1 provisional p.P21A 0.951 60 0% 92 10.9% - - possibly_damaging(0.892) deleterious(0) deleterious(0.796) NULL CNTNAP5 129684 genome.wustl.edu 37 2 124783274 124783274 + Missense_Mutation SNP C C T novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_130773.2 +1 reviewed p.S16F 0.998 72 0% 99 11.1% - - benign(0.001) deleterious(0) neutral(0.445) NULL XIRP2 129446 genome.wustl.edu 37 2 168104757 168104757 + Silent SNP T T C novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_152381.4 +1 validated p.S2285 0.748 19 0% 29 24.1% - - - - - NULL MYO3B 140469 genome.wustl.edu 37 2 171399455 171399455 + Missense_Mutation SNP C C G novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_138995.3 +1 validated p.I1205M 0.590 64 0% 78 12.8% - - benign(0.001) deleterious(0.02) neutral(0.383) NULL ITGA6 3655 genome.wustl.edu 37 2 173334069 173334069 + Missense_Mutation SNP T T C novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_001079818.1 +1 reviewed p.Y202H 1.000 83 0% 115 28.7% - - probably_damaging(0.991) deleterious(0) deleterious(0.889) superfamily_Integrin alpha N-terminal domain RAPGEF4 11069 genome.wustl.edu 37 2 173679123 173679123 + Silent SNP C C T novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_007023.3 +1 validated p.I138 0.584 50 0% 77 11.7% - - - - - HMMPfam_cNMP_binding,HMMSmart_SM00100,superfamily_cAMP-binding domain-like GULP1 51454 genome.wustl.edu 37 2 189434081 189434081 + Missense_Mutation SNP G G C novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_016315.2 +1 validated p.R172T 1.000 52 0% 59 18.6% - - probably_damaging(0.96) deleterious(0.01) deleterious(0.808) NULL SLC39A10 57181 genome.wustl.edu 37 2 196571431 196571431 + Missense_Mutation SNP C C G novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_001127257.1 +1 validated p.F436L 1.000 143 0% 173 38.2% - - probably_damaging(1) tolerated(0.06) deleterious(0.823) HMMPfam_Zip TYW5 129450 genome.wustl.edu 37 2 200808515 200808515 + Missense_Mutation SNP C C T novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b ENST00000441832 -1 known p.R86K 0.983 44 0% 55 32.7% - - benign(0) tolerated(0.44) neutral(0.013) NULL USP37 57695 genome.wustl.edu 37 2 219418392 219418392 + Missense_Mutation SNP C C A novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_020935.2 -1 validated p.R71L 1.000 98 0% 72 16.7% - - possibly_damaging(0.558) tolerated(0.17) neutral(0.249) NULL COL4A4 1286 genome.wustl.edu 37 2 227895221 227895221 + Missense_Mutation SNP C C G novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_000092.4 -1 reviewed p.G1304A 0.964 74 0% 65 55.4% - - unknown(0) deleterious(0) - HMMPfam_Collagen SPHKAP 80309 genome.wustl.edu 37 2 228883162 228883162 + Missense_Mutation SNP C C G novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_001142644.1 -1 validated p.G803A 0.001 101 0% 134 26.9% - - possibly_damaging(0.913) tolerated(0.48) neutral(0.375) NULL CAB39 51719 genome.wustl.edu 37 2 231658044 231658044 + Missense_Mutation SNP A A C novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_001130849.1 +1 validated p.K132N 1.000 81 0% 61 14.8% - - benign(0) tolerated(0.32) neutral(0.024) HMMPfam_Mo25,superfamily_ARM repeat HTR2B 3357 genome.wustl.edu 37 2 231988227 231988229 + In_Frame_Del DEL CTT CTT - novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 CTT CTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_000867.4 -1 validated p.K84in_frame_del 1.000:1.000:1.000 - - - - - - - - - HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like PSMD1 5707 genome.wustl.edu 37 2 232035319 232035319 + Missense_Mutation SNP G G A novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_002807.2 +1 reviewed p.E919K 1.000 70 0% 77 31.2% - - benign(0.137) tolerated(0.31) neutral(0.038) NULL LMCD1 29995 genome.wustl.edu 37 3 8590435 8590435 + Missense_Mutation SNP A A T novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_014583.2 +1 reviewed p.K190M 1.000 44 0% 67 41.8% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_PET CPNE9 151835 genome.wustl.edu 37 3 9760209 9760209 + Missense_Mutation SNP G G C novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_153635.2 +1 validated p.E388D 1.000 82 0% 90 15.6% - - benign(0.17) tolerated(0.31) neutral(0.042) HMMSmart_VWA,HMMPfam_Copine,superfamily_SSF53300 ARPC4 10093 genome.wustl.edu 37 3 9843351 9843351 + Missense_Mutation SNP G G C novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_005718.3 +1 reviewed p.E81Q 1.000 55 0% 62 9.7% - - benign(0.213) deleterious(0.01) neutral(0.427) HMMPfam_ARPC4,superfamily_Arp2/3 complex subunits IL17RC 84818 genome.wustl.edu 37 3 9971765 9971765 + Nonsense_Mutation SNP C C T novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_153461.2 +1 reviewed p.Q475* 0.007 21 0% 24 33.3% - - - - - NULL GHRLOS 100126793 genome.wustl.edu 37 3 10334501 10334501 + RNA SNP C C T novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NR_004431.2 +1 validated NULL 0.000 22 0% 38 18.4% - - - - - - SCN10A 6336 genome.wustl.edu 37 3 38793997 38793997 + Missense_Mutation SNP G G C novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_006514.2 -1 validated p.L490V 1.000 13 0% 20 25% - - possibly_damaging(0.907) tolerated(0.37) neutral(0.380) NULL WDR48 57599 genome.wustl.edu 37 3 39127064 39127064 + Silent SNP G G A novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_020839.2 +1 provisional p.V479 0.998 85 0% 88 20.5% - - - - - NULL KIF15 56992 genome.wustl.edu 37 3 44841807 44841807 + Missense_Mutation SNP C C T novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_020242.2 +1 validated p.A367V 1.000 48 0% 39 38.5% - - probably_damaging(0.996) deleterious(0) deleterious(0.906) HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases CACNA2D2 9254 genome.wustl.edu 37 3 50404452 50404452 + Silent SNP C C T novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_001005505.1 -1 reviewed p.L830 1.000 63 0% 63 14.3% - - - - - NULL DNAH1 25981 genome.wustl.edu 37 3 52386101 52386101 + Missense_Mutation SNP G G C novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_015512.4 +1 validated p.E951D 0.998 43 0% 63 17.5% - - benign(0.023) tolerated(0.45) neutral(0.013) NULL CADPS 8618 genome.wustl.edu 37 3 62385242 62385242 + Nonsense_Mutation SNP G G A rs141301525 by1000genomes TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_003716.3 -1 reviewed p.R1301* 1.000 67 0% 76 48.7% - - - - - NULL MYH15 22989 genome.wustl.edu 37 3 108135684 108135684 + Missense_Mutation SNP C C T novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_014981.1 -1 validated p.R1328K 0.630 119 0% 146 24.7% - - benign(0.001) tolerated(1) - HMMPfam_Myosin_tail_1 POLQ 10721 genome.wustl.edu 37 3 121190989 121190989 + Missense_Mutation SNP G G A novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_199420.3 -1 validated p.A2189V 0.992 43 0% 50 26% - - possibly_damaging(0.718) tolerated(0.27) neutral(0.293) HMMPfam_DNA_pol_A,superfamily_DNA/RNA polymerases SEMA5B 54437 genome.wustl.edu 37 3 122634692 122634692 + Missense_Mutation SNP C C A novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_001031702.2 -1 validated p.K578N 1.000 62 0% 112 13.4% - - possibly_damaging(0.891) tolerated(0.41) neutral(0.365) HMMPfam_PSI,HMMSmart_SM00423,superfamily_Plexin repeat DVL3 1857 genome.wustl.edu 37 3 183884026 183884028 + In_Frame_Del DEL CAT CAT - novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 CAT CAT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_004423.3 +1 reviewed p.I293in_frame_del 1.000:1.000:0.999 - - - - - - - - - HMMPfam_PDZ,HMMSmart_PDZ,superfamily_PDZ LDB2 9079 genome.wustl.edu 37 4 16587607 16587607 + Nonsense_Mutation SNP C C T novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b ENST00000507464 -1 known p.W106* 1.000 79 0% 59 13.6% - - benign(0.102) deleterious(0.01) neutral(0.414) HMMPfam_LIM_bind NCAPG 64151 genome.wustl.edu 37 4 17826607 17826607 + Nonsense_Mutation SNP C C G novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_022346.3 +1 validated p.S467* 1.000 58 0% 41 14.6% - - - - - superfamily_ARM-type_fold FRAS1 80144 genome.wustl.edu 37 4 79402968 79402968 + Silent SNP G G A novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b ENST00000512123 +1 known p.D1047N 1.000 46 0% 37 29.7% - - - - - HMMPfam_Calx-beta,HMMSmart_SM00237 SEC31A 22872 genome.wustl.edu 37 4 83802064 83802064 + Missense_Mutation SNP G G C novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_001077207.1 -1 reviewed p.Q31E 1.000 52 0% 34 41.2% - - possibly_damaging(0.513) deleterious(0.03) deleterious(0.537) superfamily_WD40 repeat-like FAM13A 10144 genome.wustl.edu 37 4 89772271 89772271 + Missense_Mutation SNP C C A novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_014883.2 -1 validated p.D303Y 0.008 55 0% 35 45.7% - - benign(0.429) deleterious(0.04) deleterious(0.488) NULL FREM3 166752 genome.wustl.edu 37 4 144617361 144617361 + Nonsense_Mutation SNP G G A novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b ENST00000329798 -1 known p.Q1490* 1.000 54 0% 50 30% - - - - - NULL SH3D19 152503 genome.wustl.edu 37 4 152080409 152080409 + Missense_Mutation SNP C C T novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_001009555.3 -1 validated p.E300K 0.419 120 0% 75 17.3% - - benign(0) deleterious(0) neutral(0.445) NULL F11 2160 genome.wustl.edu 37 4 187201165 187201165 + Splice_Site SNP G G C novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_000128.3 +1 reviewed e7-1 1.000 50 0% 35 17.1% - - - - - - TRIO 7204 genome.wustl.edu 37 5 14336775 14336775 + Missense_Mutation SNP G G A novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_007118.2 +1 validated p.R662H 1.000 57 0% 128 21.9% - - unknown(0) deleterious(0) - HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat ZFR 51663 genome.wustl.edu 37 5 32406897 32406897 + Missense_Mutation SNP G G C novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_016107.3 -1 validated p.I338M 1.000 162 0% 317 12.6% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMSmart_ZnF_U1,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 C1QTNF3 114899 genome.wustl.edu 37 5 34024113 34024113 + Missense_Mutation SNP C C G novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_181435.4 -1 validated p.G234A 1.000 66 0% 122 13.9% - - probably_damaging(1) deleterious(0.01) deleterious(0.905) HMMPfam_C1q,HMMSmart_C1Q,superfamily_TNF_like PRKAA1 5562 genome.wustl.edu 37 5 40777575 40777575 + Missense_Mutation SNP G G C novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_206907.3 -1 reviewed p.L81V 1.000 71 0% 149 11.4% - - benign(0.003) tolerated(0.09) neutral(0.296) HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase GZMA 3001 genome.wustl.edu 37 5 54401426 54401426 + Missense_Mutation SNP G G C novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_006144.3 +1 reviewed p.L65F 1.000 84 0% 106 13.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases,PatternScan_TRYPSIN_HIS ERBB2IP 55914 genome.wustl.edu 37 5 65372743 65372743 + Nonsense_Mutation SNP C C G novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_018695.2 +1 reviewed p.S1325* 1.000 48 0% 56 14.3% - - - - - HMMPfam_PDZ,HMMSmart_PDZ,superfamily_PDZ TAF9 6880 genome.wustl.edu 37 5 68665493 68665493 + Missense_Mutation SNP G G C novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_001015891.1 -1 validated p.R4G 0.000 43 0% 90 17.8% - - benign(0.009) deleterious(0) neutral(0.445) NULL PAPD4 167153 genome.wustl.edu 37 5 78940957 78940957 + Missense_Mutation SNP G G A novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_001114393.1 +1 validated p.E255K 1.000 128 0% 161 14.3% - - benign(0.156) tolerated(0.06) neutral(0.337) superfamily_Nucleotidyltransferase FAM172A 83989 genome.wustl.edu 37 5 93217310 93217310 + Missense_Mutation SNP C C G novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_032042.5 -1 validated p.D218H 1.000 176 0% 216 13% - - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_Arb2 SLC25A46 91137 genome.wustl.edu 37 5 110092444 110092444 + Silent SNP G G A novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_138773.1 +1 provisional p.L221 1.000 174 0% 229 16.2% - - - - - superfamily_Mitochondrial carrier CTNNA1 1495 genome.wustl.edu 37 5 138160373 138160374 + In_Frame_Ins INS - - GCA novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_001903.2 +1 validated p.251in_frame_insQ 1.000:1.000 - - - - - - - - - HMMPfam_Vinculin,superfamily_alpha-catenin/vinculin SPATA24 202051 genome.wustl.edu 37 5 138737663 138737663 + Silent SNP G G A novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b ENST00000514983 -1 known p.S82L 0.470 74 0% 76 34.2% - - - - - NULL ZMAT2 153527 genome.wustl.edu 37 5 140080451 140080451 + Missense_Mutation SNP G G C novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_144723.1 +1 provisional p.E22D 1.000 64 0% 101 20.8% - - probably_damaging(0.958) tolerated(0.25) neutral(0.439) NULL PCDHA7 56141 genome.wustl.edu 37 5 140215861 140215861 + Silent SNP C C T novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_018910.2 +1 reviewed p.I631 1.000 41 0% 78 12.8% - - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like DSP 1832 genome.wustl.edu 37 6 7542148 7542149 + Frame_Shift_Ins INS - - A rs17133512 byCluster;by1000genomes TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_004415.2 +1 reviewed p.M0fs 0.955:0.997 - - - - - - - - - NULL KDM1B 221656 genome.wustl.edu 37 6 18208433 18208433 + Missense_Mutation SNP A A C novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_153042.3 +1 validated p.Q389P 0.998 92 0% 86 52.3% - - possibly_damaging(0.861) deleterious(0.01) deleterious(0.739) HMMPfam_Amino_oxidase,superfamily_SSF51905 RNF144B 255488 genome.wustl.edu 37 6 18439969 18439969 + Missense_Mutation SNP G G A novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_182757.2 +1 validated p.E109K 1.000 104 0% 144 28.5% - - benign(0.039) tolerated(0.98) neutral(0.002) HMMPfam_IBR,HMMSmart_SM00647,superfamily_RING/U-box HIST1H2BH 8345 genome.wustl.edu 37 6 26251954 26251954 + Missense_Mutation SNP G G A novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_003524.2 +1 reviewed p.D26N 0.990 100 0% 73 39.7% - - unknown(0) tolerated(0.13) - superfamily_Histone-fold HIST1H2BH 8345 genome.wustl.edu 37 6 26252083 26252083 + Missense_Mutation SNP G G A novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_003524.2 +1 reviewed p.D69N 1.000 74 0% 44 25% - - benign(0.126) deleterious(0) neutral(0.455) HMMSmart_SM00427,HMMPfam_Histone,superfamily_Histone-fold BTN2A1 11120 genome.wustl.edu 37 6 26463670 26463670 + Missense_Mutation SNP G G C novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_007049.2 +1 reviewed p.R210T 0.492 83 0% 37 16.2% - - benign(0.103) deleterious(0.03) neutral(0.372) superfamily_Immunoglobulin HSPA1L 3305 genome.wustl.edu 37 6 31778667 31778667 + Silent SNP G G A novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_005527.3 -1 reviewed p.L361 1.000 35 0% 48 31.2% - - - - - HMMPfam_HSP70,superfamily_SSF53067 MEA1 4201 genome.wustl.edu 37 6 42981097 42981097 + Missense_Mutation SNP C C G novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_014623.2 -1 validated p.G20A 0.490 28 0% 33 21.2% - - probably_damaging(0.959) deleterious(0) deleterious(0.847) HMMPfam_MEA1 TDRD6 221400 genome.wustl.edu 37 6 46659496 46659496 + Missense_Mutation SNP G G A novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_001010870.2 +1 validated p.E1211K 0.001 10 0% 11 36.4% - - benign(0.004) tolerated(0.23) neutral(0.042) NULL BAI3 577 genome.wustl.edu 37 6 70082334 70082334 + Splice_Site SNP G G A novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_001704.2 +1 reviewed e28+1 1.000 39 0% 25 44% - - - - - - SMAP1 60682 genome.wustl.edu 37 6 71377783 71377783 + Silent SNP C C T novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_001044305.1 +1 reviewed p.L19 1.000 14 0% 26 42.3% - - - - - HMMPfam_ArfGap,HMMSmart_SM00105,superfamily_Pyk2-associated protein beta ARF-GAP domain SYNE1 23345 genome.wustl.edu 37 6 152809581 152809581 + Missense_Mutation SNP C C G novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_182961.2 -1 reviewed p.D333H 1.000 191 0% 238 15.1% - - probably_damaging(1) tolerated(0.53) deleterious(0.507) NULL TULP4 56995 genome.wustl.edu 37 6 158915807 158915807 + Missense_Mutation SNP C C T novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_020245.3 +1 validated p.T600M 0.998 84 0% 113 27.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Transcriptional factor tubby C-terminal domain THBS2 7058 genome.wustl.edu 37 6 169637320 169637320 + Missense_Mutation SNP C C G novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_003247.2 -1 reviewed p.K474N 0.934 60 0% 80 10% - - benign(0.265) tolerated(0.08) neutral(0.328) HMMPfam_TSP_1,HMMSmart_TSP1,superfamily_TSP1 INTS1 26173 genome.wustl.edu 37 7 1511261 1511261 + Silent SNP C C G novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_001080453.2 -1 validated p.L2067 0.999 39 0% 35 17.1% - - - - - NULL RAC1 5879 genome.wustl.edu 37 7 6426892 6426892 + Missense_Mutation SNP C C T novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_018890.3 +1 reviewed p.P29S 1.000 92 0% 71 19.7% - - probably_damaging(0.988) deleterious(0) deleterious(0.882) HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases IL6 3569 genome.wustl.edu 37 7 22769217 22769217 + Missense_Mutation SNP G G A novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_000600.3 +1 reviewed p.E137K 0.000 163 0% 123 19.5% - - benign(0.001) tolerated(0.72) neutral(0.002) HMMPfam_IL6,HMMSmart_SM00126,superfamily_4-helical cytokines NFE2L3 9603 genome.wustl.edu 37 7 26225179 26225182 + Frame_Shift_Del DEL AAGA AAGA - novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 AAGA AAGA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_004289.6 +1 reviewed p.K621fs 0.004:0.004:0.000:0.000 - - - - - - - - - HMMSmart_BRLZ,HMMPfam_bZIP_1 CCT6A 908 genome.wustl.edu 37 7 56130769 56130769 + Silent SNP G G A novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_001762.3 +1 reviewed p.L529 0.827 98 0% 63 11.1% - - - - - NULL PCLO 27445 genome.wustl.edu 37 7 82580064 82580064 + Missense_Mutation SNP C C G novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_033026.5 -1 validated p.M3280I 1.000 59 0% 31 19.4% - - possibly_damaging(0.612) - - NULL GRM3 2913 genome.wustl.edu 37 7 86468997 86468997 + Missense_Mutation SNP C C T novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_000840.2 +1 reviewed p.R723W 1.000 59 0% 63 30.2% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_7tm_3 CLDN12 9069 genome.wustl.edu 37 7 90042001 90042001 + Missense_Mutation SNP G G A novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_012129.3 +1 validated p.R4Q 1.000 48 0% 142 12.7% - - possibly_damaging(0.951) tolerated(0.19) neutral(0.444) NULL TRRAP 8295 genome.wustl.edu 37 7 98495385 98495385 + Missense_Mutation SNP C C G novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_003496.2 +1 validated p.Q177E 1.000 45 0% 207 87.9% - - unknown(0) tolerated(0.37) - superfamily_ARM repeat COG5 10466 genome.wustl.edu 37 7 106924105 106924105 + Silent SNP G G A novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_006348.3 -1 validated p.L493 1.000 78 0% 77 28.6% - - - - - NULL DLD 1738 genome.wustl.edu 37 7 107558387 107558387 + Missense_Mutation SNP G G A novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_000108.3 +1 reviewed p.G419R 1.000 59 0% 46 15.2% - - probably_damaging(0.983) deleterious(0.01) deleterious(0.835) HMMPfam_Pyr_redox_dim,superfamily_FAD/NAD-linked_reductase_dimer AASS 10157 genome.wustl.edu 37 7 121716652 121716652 + Missense_Mutation SNP C C T novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_005763.3 -1 reviewed p.G891E 0.993 87 0% 76 13.2% - - benign(0) tolerated(0.35) neutral(0.021) HMMPfam_Saccharop_dh CUL1 8454 genome.wustl.edu 37 7 148463719 148463719 + Missense_Mutation SNP G G A novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_003592.2 +1 validated p.E286K 1.000 37 0% 34 20.6% - - benign(0) tolerated(0.72) neutral(0.002) HMMPfam_Cullin,superfamily_Cullin repeat ZNF786 136051 genome.wustl.edu 37 7 148768376 148768376 + Silent SNP C C T novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_152411.3 -1 validated p.L496 0.010 29 0% 32 21.9% - - - - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF467 168544 genome.wustl.edu 37 7 149462747 149462747 + Missense_Mutation SNP G G A novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_207336.1 -1 provisional p.R282C 1.000 16 0% 19 94.7% - - probably_damaging(1) tolerated(0.11) deleterious(0.772) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 SSPO 23145 genome.wustl.edu 37 7 149509377 149509377 + Missense_Mutation SNP G G C rs141078243 by1000genomes TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b ENST00000378016 +1 known p.G3259R 0.996 1 0.000 10 1.000 - - - - - HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat DPP6 1804 genome.wustl.edu 37 7 154263951 154263951 + Missense_Mutation SNP G G A rs186683462 by1000genomes TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b ENST00000377770 +1 known p.E193K 0.998 65 0% 64 28.1% - - probably_damaging(0.954) tolerated(0.77) neutral(0.399) superfamily_Dipeptidyl peptidase IV/CD26 N-terminal domain ZFHX4 79776 genome.wustl.edu 37 8 77765782 77765782 + Missense_Mutation SNP G G C novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_024721.4 +1 validated p.D2164H 1.000 43 0% 41 26.8% - - probably_damaging(0.982) - - NULL MYC 4609 genome.wustl.edu 37 8 128750529 128750529 + Missense_Mutation SNP C C G novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_002467.4 +1 reviewed p.F22L 0.992 36 0% 32 40.6% - - probably_damaging(0.973) tolerated(1) neutral(0.415) HMMPfam_Myc_N SLC45A4 57210 genome.wustl.edu 37 8 142229918 142229918 + Silent SNP G G A novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_001080431.1 -1 provisional p.L96 0.965 17 0% 15 46.7% - - - - - HMMPfam_MFS_1,superfamily_MFS general substrate transporter LRRC14 9684 genome.wustl.edu 37 8 145746500 145746500 + Missense_Mutation SNP G G A novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_014665.1 +1 provisional p.E374K 0.969 37 0% 29 17.2% - - benign(0.322) tolerated(0.06) neutral(0.423) superfamily_SSF52047 ZNF34 80778 genome.wustl.edu 37 8 145998830 145998830 + Missense_Mutation SNP G G C novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_030580.3 -1 validated p.P502A 1.000 124 0% 104 53.8% - - probably_damaging(0.995) deleterious(0) deleterious(0.902) superfamily_C2H2 and C2HC zinc fingers ACO1 48 genome.wustl.edu 37 9 32449010 32449010 + Silent SNP C C T novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_002197.2 +1 reviewed p.L829 1.000 56 0% 71 16.9% - - - - - superfamily_Aconitase UBAP2 55833 genome.wustl.edu 37 9 33923438 33923438 + Silent SNP G G C novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_018449.2 -1 reviewed p.L945 1.000 95 0% 129 20.2% - - - - - NULL RG9MTD3 158234 genome.wustl.edu 37 9 37763698 37763698 + Nonsense_Mutation SNP C C G novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_144964.2 +1 validated p.S123* 1.000 94 0% 53 22.6% - - - - - NULL C9orf79 286234 genome.wustl.edu 37 9 90500211 90500211 + Missense_Mutation SNP C C T novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_178828.4 +1 validated p.S270F 0.000 25 0% 49 18.4% - - possibly_damaging(0.799) deleterious(0.01) deleterious(0.707) NULL ABCA1 19 genome.wustl.edu 37 9 107602663 107602663 + Silent SNP C C T novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_005502.2 -1 reviewed p.L317 0.993 43 0% 58 25.9% - - - - - NULL ZNF483 158399 genome.wustl.edu 37 9 114304196 114304196 + Missense_Mutation SNP G G C novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_133464.2 +1 validated p.K327N 1.000 35 0% 38 13.2% - - benign(0.386) tolerated(0.28) neutral(0.155) NULL LHX2 9355 genome.wustl.edu 37 9 126774700 126774700 + Missense_Mutation SNP G G A novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_004789.3 +1 reviewed p.E25K 1.000 7 0.000 6 0.667 - - benign(0.069) tolerated(0.15) neutral(0.245) NULL ODF2 4957 genome.wustl.edu 37 9 131233726 131233728 + In_Frame_Del DEL AGG AGG - novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 AGG AGG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_002540.3 +1 reviewed p.E165in_frame_del 1.000:1.000:1.000 - - - - - - - - - NULL SPTAN1 6709 genome.wustl.edu 37 9 131367443 131367443 + Missense_Mutation SNP G G A novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_001130438.1 +1 validated p.A1284T 1.000 29 0% 35 31.4% - - possibly_damaging(0.948) deleterious(0.02) deleterious(0.774) HMMPfam_Spectrin,HMMSmart_SPEC,superfamily_Spectrin TMEM141 85014 genome.wustl.edu 37 9 139686201 139686201 + Missense_Mutation SNP C C A novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_032928.3 +1 validated p.F31L 0.998 28 0% 38 21.1% - - benign(0.227) tolerated(0.79) neutral(0.024) NULL TAF3 83860 genome.wustl.edu 37 10 8006478 8006478 + Silent SNP G G A novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_031923.2 +1 provisional p.V335 0.911 36 0% 35 45.7% - - - - - NULL VIM 7431 genome.wustl.edu 37 10 17278332 17278332 + Nonsense_Mutation SNP C C G novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_003380.3 +1 reviewed p.S438* 0.993 85 0% 43 27.9% - - - - - NULL PPYR1 5540 genome.wustl.edu 37 10 47087099 47087099 + Missense_Mutation SNP T T A novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_005972.4 +1 validated p.Y106N 1.000 147 0% 185 20.5% - - probably_damaging(0.968) deleterious(0.02) deleterious(0.793) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like ERCC6 2074 genome.wustl.edu 37 10 50680487 50680487 + Missense_Mutation SNP C C G novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_000124.2 -1 reviewed p.Q953H 1.000 89 0% 85 11.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF52540 PCDH15 65217 genome.wustl.edu 37 10 55617018 55617018 + Silent SNP G G A novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_001142763.1 -1 reviewed p.S1246 0.897 52 0% 59 27.1% - - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like HKDC1 80201 genome.wustl.edu 37 10 70980233 70980233 + Silent SNP G G C novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_025130.3 +1 validated p.L14 1.000 39 0% 46 26.1% - - - - - NULL SLC16A12 387700 genome.wustl.edu 37 10 91192877 91192877 + Missense_Mutation SNP C C G novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_213606.3 -1 validated p.D469H 1.000 73 0% 47 17% - - probably_damaging(0.982) deleterious(0.02) deleterious(0.809) NULL C10orf12 26148 genome.wustl.edu 37 10 98742387 98742387 + Missense_Mutation SNP G G A novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_015652.2 +1 predicted p.E414K 0.146 23 0% 44 20.5% - - probably_damaging(0.955) deleterious(0) deleterious(0.843) NULL MMS19 64210 genome.wustl.edu 37 10 99219221 99219221 + Silent SNP G G C novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b ENST00000434538 -1 known p.S502* 1.000 59 0% 100 19% - - - - - superfamily_ARM repeat XPNPEP1 7511 genome.wustl.edu 37 10 111629744 111629744 + Missense_Mutation SNP C C G novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_020383.3 -1 reviewed p.E537D 1.000 55 0% 97 21.6% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMPfam_Peptidase_M24,superfamily_Creatinase/aminopeptidase NRAP 4892 genome.wustl.edu 37 10 115410219 115410219 + Missense_Mutation SNP C C G novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_198060.2 -1 validated p.R254T 1.000 104 0% 209 16.7% - - benign(0.245) tolerated(0.11) neutral(0.297) HMMPfam_Nebulin,HMMSmart_SM00227 KNDC1 85442 genome.wustl.edu 37 10 135013933 135013933 + Silent SNP G G A novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_152643.6 +1 validated p.P986 0.000 8 0.000 19 0.526 - - - - - NULL CTSD 1509 genome.wustl.edu 37 11 1782695 1782695 + Silent SNP G G A novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_001909.3 -1 reviewed p.I24 0.890 21 0% 19 31.6% - - - - - superfamily_Pept_Aspartic,HMMPfam_A1_Propeptide INS 3630 genome.wustl.edu 37 11 2181139 2181139 + Silent SNP C C T novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_000207.2 -1 reviewed p.V92 1.000 51 0% 46 32.6% - - - - - HMMPfam_Insulin,HMMSmart_SM00078,superfamily_Insulin-like OR51G1 79324 genome.wustl.edu 37 11 4944864 4944864 + Nonsense_Mutation SNP G G A novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_001005237.1 -1 provisional p.R236* 0.013 61 0% 41 73.2% - - - - - HMMPfam_7tm_1,superfamily_SSF81321 DNHD1 144132 genome.wustl.edu 37 11 6567080 6567080 + Silent SNP A A T novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_144666.2 +1 provisional p.A1637 0.849 55 0% 41 78% - - - - - NULL RPL27A 6157 genome.wustl.edu 37 11 8707314 8707314 + Missense_Mutation SNP G G C novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_000990.4 +1 reviewed p.K136N 1.000 114 0% 51 15.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_L15,PatternScan_RIBOSOMAL_L15,superfamily_Ribosomal proteins L15p and L18e TMEM41B 440026 genome.wustl.edu 37 11 9310035 9310035 + Nonsense_Mutation SNP G G C novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_015012.2 -1 validated p.S139* 1.000 83 0% 46 10.9% - - - - - HMMPfam_SNARE_assoc QSER1 79832 genome.wustl.edu 37 11 32955237 32955237 + Silent SNP C C A novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_001076786.1 +1 provisional p.L682 0.245 29 0% 17 29.4% - - - - - NULL GIF 2694 genome.wustl.edu 37 11 59608752 59608754 + In_Frame_Del DEL TTG TTG - novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 TTG TTG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_005142.2 -1 reviewed p.N185in_frame_del 1.000:1.000:1.000 - - - - - - - - - HMMPfam_Cobalamin_bind EEF1G 1937 genome.wustl.edu 37 11 62339332 62339332 + Missense_Mutation SNP C C G novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_001404.4 -1 reviewed p.E71D 1.000 33 0% 51 13.7% - - possibly_damaging(0.838) tolerated(0.17) neutral(0.379) HMMPfam_GST_N,superfamily_Thioredoxin-like STIP1 10963 genome.wustl.edu 37 11 63964829 63964829 + Silent SNP G G A novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_006819.2 +1 validated p.E253 0.149 53 0% 84 48.8% - - - - - HMMPfam_TPR_1,HMMSmart_TPR,superfamily_SSF48452 TRIM77P 390231 genome.wustl.edu 37 11 89443483 89443483 + Missense_Mutation SNP C C T novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b XM_002343107.1 +1 model p.T6M 0.001 88 0% 40 90% - - - - - NULL FAT3 120114 genome.wustl.edu 37 11 92533421 92533421 + Silent SNP C C A novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_001008781.2 +1 validated p.T2414 0.991 68 0% 34 41.2% - - - - - HMMPfam_Cadherin,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like SIK3 23387 genome.wustl.edu 37 11 116968892 116968892 + Silent SNP G G C novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b ENST00000445177 -1 known p.Q74E 1.000 7 0.000 9 0.444 - - - - - HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase TECTA 7007 genome.wustl.edu 37 11 121038811 121038811 + Missense_Mutation SNP G G A novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_005422.2 +1 reviewed p.A1879T 1.000 94 0% 68 79.4% - - benign(0.138) tolerated(0.4) neutral(0.028) HMMPfam_Zona_pellucida,HMMSmart_SM00241 OR8D2 283160 genome.wustl.edu 37 11 124189943 124189943 + Missense_Mutation SNP G G C novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_001002918.1 -1 provisional p.L51V 0.000 42 0% 27 29.6% - - benign(0) tolerated(0.17) neutral(0.059) HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like DCP1B 196513 genome.wustl.edu 37 12 2102470 2102470 + Silent SNP G G A novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_152640.3 -1 validated p.F93 1.000 82 0% 62 14.5% - - - - - HMMPfam_DCP1,superfamily_PH domain-like TAS2R43 259289 genome.wustl.edu 37 12 11244523 11244523 + Silent SNP G G T novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_176884.2 -1 provisional p.L102 0.859 80 0% 39 41% - - - - - HMMPfam_TAS2R,superfamily_Family A G protein-coupled receptor-like LRP6 4040 genome.wustl.edu 37 12 12279718 12279718 + Missense_Mutation SNP C C T novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_002336.2 -1 reviewed p.E1407K 1.000 87 0% 67 16.4% - - benign(0.07) tolerated(0.87) neutral(0.005) NULL OVCH1 341350 genome.wustl.edu 37 12 29604305 29604305 + Missense_Mutation SNP C C G novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_183378.2 -1 validated p.E910Q 0.898 39 0% 32 28.1% - - possibly_damaging(0.922) tolerated(0.24) neutral(0.409) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain IPO8 10526 genome.wustl.edu 37 12 30833474 30833474 + Missense_Mutation SNP G G A novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_006390.2 -1 reviewed p.S194F 1.000 68 0% 78 24.4% - - probably_damaging(0.988) deleterious(0) deleterious(0.882) superfamily_ARM-type_fold DDX11 1663 genome.wustl.edu 37 12 31237969 31237969 + Nonsense_Mutation SNP G G T novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_152438.1 +1 reviewed p.E183* 0.005 63 0% 87 16.1% - - - - - HMMSmart_SM00488,superfamily_P-loop containing nucleoside triphosphate hydrolases NELL2 4753 genome.wustl.edu 37 12 45001017 45001017 + Missense_Mutation SNP C C A novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_001145107.1 -1 reviewed p.G583V 1.000 65 0% 56 16.1% - - probably_damaging(0.961) deleterious(0) deleterious(0.849) HMMSmart_EGF,HMMPfam_EGF_2,superfamily_SSF57196 SP1 6667 genome.wustl.edu 37 12 53776326 53776326 + Missense_Mutation SNP G G C novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_138473.2 +1 validated p.D199H 1.000 38 0% 36 16.7% - - probably_damaging(0.976) deleterious(0.02) deleterious(0.801) NULL OBFC2B 79035 genome.wustl.edu 37 12 56619962 56619962 + Splice_Site SNP G G C novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_024068.3 +1 validated e4-1 1.000 99 0% 80 25% - - - - - - MIP 4284 genome.wustl.edu 37 12 56847528 56847528 + Silent SNP C C T novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_012064.3 -1 reviewed p.A124 1.000 18 0% 14 57.1% - - - - - HMMPfam_MIP,superfamily_MIP GLIPR1 11010 genome.wustl.edu 37 12 75892624 75892624 + Missense_Mutation SNP C C G novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_006851.2 +1 reviewed p.P223A 1.000 138 0% 162 19.1% - - benign(0.038) tolerated(0.2) neutral(0.051) NULL IKBIP 121457 genome.wustl.edu 37 12 99020043 99020043 + Missense_Mutation SNP C C T novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_153687.2 -1 provisional p.E267K 0.917 114 0% 97 34% - - probably_damaging(0.998) tolerated(0.3) deleterious(0.503) NULL ANKS1B 56899 genome.wustl.edu 37 12 99640064 99640064 + Missense_Mutation SNP C C G novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_152788.3 -1 validated p.E779Q 1.000 46 0% 51 27.5% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL PRDM4 11108 genome.wustl.edu 37 12 108133321 108133321 + Silent SNP C C T novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_012406.3 -1 reviewed p.K644 1.000 26 0% 19 31.6% - - - - - superfamily_SSF57667 MED13L 23389 genome.wustl.edu 37 12 116446265 116446265 + Silent SNP G G A novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_015335.3 -1 validated p.L651 1.000 52 0% 50 16% - - - - - NULL CCDC60 160777 genome.wustl.edu 37 12 119954467 119954467 + Missense_Mutation SNP G G A novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_178499.3 +1 validated p.R308Q 0.110 46 0% 23 21.7% - - benign(0.285) tolerated(0.42) neutral(0.101) NULL COX6A1 1337 genome.wustl.edu 37 12 120875952 120875952 + Nonsense_Mutation SNP C C A novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_004373.2 +1 reviewed p.S8* 0.002 59 0% 65 29.2% - - - - - NULL CLIP1 6249 genome.wustl.edu 37 12 122763614 122763614 + Silent SNP G G C novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_002956.2 -1 validated p.L1231 1.000 78 0% 57 14% - - - - - NULL ZCCHC8 55596 genome.wustl.edu 37 12 122983394 122983394 + Missense_Mutation SNP C C A novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_017612.2 -1 validated p.L74F 1.000 127 0% 110 12.7% - - probably_damaging(1) deleterious(0.04) deleterious(0.849) NULL DGKH 160851 genome.wustl.edu 37 13 42780232 42780232 + Missense_Mutation SNP C C A novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_178009.2 +1 reviewed p.P851T 1.000 82 0% 57 15.8% - - probably_damaging(1) tolerated(0.21) deleterious(0.544) HMMPfam_DAGK_acc,HMMSmart_SM00045 FAM194B 220081 genome.wustl.edu 37 13 46154779 46154779 + Nonsense_Mutation SNP G G C novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_182542.2 -1 predicted p.S293* 0.000 174 0% 194 11.3% - - - - - NULL FNDC3A 22862 genome.wustl.edu 37 13 49781438 49781438 + Silent SNP G G A novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_001079673.1 +1 validated p.L1168 0.008 98 0% 97 12.4% - - - - - NULL PIBF1 10464 genome.wustl.edu 37 13 73491232 73491232 + Missense_Mutation SNP C C T novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_006346.2 +1 validated p.A553V 1.000 88 0% 126 50.8% - - probably_damaging(0.98) tolerated(0.09) deleterious(0.720) NULL NFKBIA 4792 genome.wustl.edu 37 14 35872497 35872497 + Missense_Mutation SNP C C T novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_020529.2 -1 reviewed p.D136N 1.000 44 0% 35 37.1% - - benign(0.013) tolerated(0.11) neutral(0.272) HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat LRFN5 145581 genome.wustl.edu 37 14 42360558 42360558 + Silent SNP C C T novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_152447.3 +1 validated p.L497 1.000 56 0% 42 26.2% - - - - - superfamily_FN_III-like LRFN5 145581 genome.wustl.edu 37 14 42360719 42360719 + Missense_Mutation SNP G G A novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_152447.3 +1 validated p.R551Q 1.000 53 0% 36 80.6% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL KLHDC1 122773 genome.wustl.edu 37 14 50199519 50199519 + Missense_Mutation SNP G G A novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_172193.2 +1 validated p.D270N 1.000 67 0% 40 37.5% - - benign(0.049) tolerated(0.14) neutral(0.253) HMMPfam_Kelch_1,superfamily_Galactose oxidase central domain NID2 22795 genome.wustl.edu 37 14 52520911 52520911 + Missense_Mutation SNP G G T novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_007361.3 -1 validated p.S299Y 0.021 39 0% 28 25% - - possibly_damaging(0.604) tolerated(1) neutral(0.209) NULL GPX2 2877 genome.wustl.edu 37 14 65406316 65406316 + Missense_Mutation SNP C C T novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_002083.2 -1 reviewed p.E155K 1.000 86 0% 35 45.7% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_Thioredoxin-like ADSSL1 122622 genome.wustl.edu 37 14 105212605 105212605 + Missense_Mutation SNP G G C novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_199165.1 +1 validated p.E445Q 0.999 27 0% 16 37.5% - - benign(0.254) tolerated(0.36) neutral(0.046) HMMPfam_Adenylsucc_synt,HMMSmart_Adenylsucc_synt,superfamily_SSF52540 MAGEL2 54551 genome.wustl.edu 37 15 23889837 23889837 + Missense_Mutation SNP G G C novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_019066.4 -1 reviewed p.S415C 0.767 33 0% 25 40% - - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL RYR3 6263 genome.wustl.edu 37 15 34117865 34117865 + Missense_Mutation SNP G G C novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_001036.3 +1 validated p.E3712Q 1.000 85 0% 52 23.1% - - probably_damaging(0.989) - - NULL PGBD4 161779 genome.wustl.edu 37 15 34395466 34395466 + Missense_Mutation SNP G G C novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_152595.4 +1 validated p.R245T 0.821 51 0% 24 20.8% - - possibly_damaging(0.609) deleterious(0.04) deleterious(0.560) NULL FAM82A2 55177 genome.wustl.edu 37 15 41037345 41037345 + Missense_Mutation SNP G G C novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_018145.1 -1 provisional p.L213V 0.072 87 0% 69 23.2% - - benign(0.009) tolerated(1) neutral(0.001) NULL TYRO3 7301 genome.wustl.edu 37 15 41861187 41861187 + Nonsense_Mutation SNP C C T novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_006293.3 +1 reviewed p.Q407* 1.000 85 0% 47 25.5% - - - - - superfamily_FN_III-like FBN1 2200 genome.wustl.edu 37 15 48797345 48797345 + Splice_Site SNP C C T novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_000138.4 -1 reviewed e15-1 1.000 74 0% 45 33.3% - - - - - - TMOD2 29767 genome.wustl.edu 37 15 52098598 52098598 + Missense_Mutation SNP G G C novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_014548.3 +1 reviewed p.E301Q 1.000 35 0% 25 32% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Tropomodulin,superfamily_SSF52047 HERC1 8925 genome.wustl.edu 37 15 64067550 64067550 + Missense_Mutation SNP C C G novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_003922.3 -1 reviewed p.K91N 1.000 48 0% 22 45.5% - - unknown(0) tolerated(0.53) - NULL CSPG4 1464 genome.wustl.edu 37 15 75969267 75969267 + Missense_Mutation SNP G G C novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_001897.4 -1 reviewed p.P1865A 0.993 17 0% 14 28.6% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL AKAP13 11214 genome.wustl.edu 37 15 86122409 86122409 + Silent SNP G G A novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_006738.4 +1 reviewed p.R370 0.012 36 0% 32 12.5% - - - - - NULL MCTP2 55784 genome.wustl.edu 37 15 94841638 94841638 + Silent SNP C C T novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_018349.3 +1 validated p.L48 0.998 40 0% 33 18.2% - - - - - NULL MAPK8IP3 23162 genome.wustl.edu 37 16 1814328 1814328 + Silent SNP G G A novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_015133.3 +1 reviewed p.L715 1.000 12 0% 12 66.7% - - - - - NULL NLRC3 197358 genome.wustl.edu 37 16 3614271 3614271 + Missense_Mutation SNP C C T novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_178844.2 -1 validated p.E223K 1.000 31 0% 44 34.1% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_NACHT MYH11 4629 genome.wustl.edu 37 16 15829297 15829297 + Silent SNP G G A novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_001040114.1 -1 reviewed p.L1151 0.990 77 0% 74 13.5% - - - - - HMMPfam_Myosin_tail_1 ARHGAP17 55114 genome.wustl.edu 37 16 24953444 24953444 + Missense_Mutation SNP C C G novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_001006634.1 -1 validated p.E452Q 1.000 54 0% 37 24.3% - - benign(0.245) tolerated(0.35) neutral(0.045) NULL IL4R 3566 genome.wustl.edu 37 16 27353545 27353545 + Silent SNP C C T novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_000418.2 +1 reviewed p.L58 0.005 78 0% 79 25.3% - - - - - superfamily_Fibronectin type III,HMMPfam_IL4Ra_N ZNF689 115509 genome.wustl.edu 37 16 30615904 30615904 + Missense_Mutation SNP T T C novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_138447.1 -1 provisional p.H395R 1.000 15 0% 16 37.5% - - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 CYLD 1540 genome.wustl.edu 37 16 50825570 50825570 + Missense_Mutation SNP C C G novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_015247.2 +1 reviewed p.S737C 1.000 84 0% 47 25.5% - - benign(0.345) deleterious(0) deleterious(0.553) HMMPfam_UCH,superfamily_Cysteine proteinases SLC12A3 6559 genome.wustl.edu 37 16 56918061 56918061 + Silent SNP C C G novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_000339.2 +1 reviewed p.L590 1.000 80 0% 51 23.5% - - - - - HMMPfam_AA_permease DDX28 55794 genome.wustl.edu 37 16 68055980 68055980 + Missense_Mutation SNP C C T novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_018380.3 -1 reviewed p.D376N 0.999 79 0% 33 27.3% - - possibly_damaging(0.449) deleterious(0.01) deleterious(0.552) superfamily_P-loop containing nucleoside triphosphate hydrolases ZNF469 84627 genome.wustl.edu 37 16 88500055 88500055 + Silent SNP G G A novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_001127464.1 +1 reviewed p.P2031 0.000 10 0.000 6 0.667 - - - - - NULL CDH15 1013 genome.wustl.edu 37 16 89260003 89260003 + Missense_Mutation SNP G G C novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_004933.2 +1 reviewed p.E661Q 1.000 9 0.000 12 0.583 - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Cadherin_C PRDM7 11105 genome.wustl.edu 37 16 90126904 90126904 + Missense_Mutation SNP C C T novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_001098173.1 -1 reviewed p.E360K 0.356 108 0% 74 17.6% - - possibly_damaging(0.842) tolerated(0.22) neutral(0.364) NULL YWHAE 7531 genome.wustl.edu 37 17 1257522 1257522 + Nonsense_Mutation SNP G G C novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_006761.4 -1 reviewed p.S233* 1.000 71 0% 41 41.5% - - - - - HMMPfam_14-3-3,HMMSmart_SM00101,PatternScan_1433_2,superfamily_14-3-3 protein SMTNL2 342527 genome.wustl.edu 37 17 4496386 4496386 + Missense_Mutation SNP C C T novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_001114974.1 +1 validated p.S217L 0.080 36 0% 29 17.2% - - possibly_damaging(0.692) deleterious(0) deleterious(0.692) NULL TP53 7157 genome.wustl.edu 37 17 7577106 7577106 + Missense_Mutation SNP G G T novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_000546.4 -1 reviewed p.P278T 1.000 75 0% 44 95.5% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) superfamily_p53-like transcription factors,HMMPfam_P53 MYH1 4619 genome.wustl.edu 37 17 10398524 10398524 + Missense_Mutation SNP C C G novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_005963.3 -1 reviewed p.K1760N 1.000 188 0% 129 43.4% - - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_Myosin_tail_1 CRLF3 51379 genome.wustl.edu 37 17 29119551 29119551 + Missense_Mutation SNP C C T novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_015986.3 -1 validated p.R289Q 1.000 92 0% 128 19.5% - - probably_damaging(1) tolerated(0.35) deleterious(0.520) NULL ENSG00000131484 0 genome.wustl.edu 37 17 43580786 43580786 + Missense_Mutation SNP C C G novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b ENST00000253803 +1 known p.S26C 0.001 57 0% 60 18.3% - - probably_damaging(0.954) deleterious(0) deleterious(0.842) NULL CSH1 1442 genome.wustl.edu 37 17 61972742 61972742 + Nonsense_Mutation SNP T T A rs61764000 byCluster;byFrequency;by1000genomes TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_022640.2 -1 reviewed p.K183* 0.000 47 0% 104 14.4% - - - - - NULL ARSG 22901 genome.wustl.edu 37 17 66416388 66416388 + Silent SNP G G A novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_014960.3 +1 validated p.L454 0.255 84 0% 121 51.2% - - - - - superfamily_Alkaline_phosphatase_core ABCA6 23460 genome.wustl.edu 37 17 67092823 67092823 + Silent SNP G G A novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_080284.2 -1 reviewed p.F1080 0.000 47 0% 49 14.3% - - - - - NULL COG1 9382 genome.wustl.edu 37 17 71203355 71203355 + Missense_Mutation SNP G G C novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_018714.2 +1 reviewed p.R922P 0.947 129 0% 159 18.2% - - probably_damaging(1) deleterious(0.02) deleterious(0.883) NULL CASKIN2 57513 genome.wustl.edu 37 17 73497583 73497583 + Missense_Mutation SNP C C T novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_020753.3 -1 validated p.A1162T 0.993 35 0% 32 31.2% - - possibly_damaging(0.888) tolerated(0.29) neutral(0.377) NULL ITGB4 3691 genome.wustl.edu 37 17 73745116 73745116 + Missense_Mutation SNP C C G novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_000213.3 +1 reviewed p.I1102M 0.992 25 0% 25 20% - - possibly_damaging(0.539) deleterious(0) deleterious(0.627) NULL UNK 85451 genome.wustl.edu 37 17 73808239 73808239 + Missense_Mutation SNP C C A novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_001080419.1 +1 provisional p.H197N 1.000 71 0% 96 12.5% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL SEC14L1 6397 genome.wustl.edu 37 17 75187335 75187335 + Missense_Mutation SNP G G C novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_001039573.2 +1 reviewed p.E96Q 1.000 88 0% 98 10.2% - - possibly_damaging(0.935) deleterious(0.01) deleterious(0.786) HMMPfam_PRELI ACTG1 71 genome.wustl.edu 37 17 79479308 79479308 + Missense_Mutation SNP C C A novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_001614.2 -1 reviewed p.D25Y 1.000 37 0% 57 12.3% - - possibly_damaging(0.787) - - HMMPfam_Actin,HMMSmart_SM00268,superfamily_Actin-like ATPase domain ZNF519 162655 genome.wustl.edu 37 18 14106080 14106080 + Silent SNP G G A novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_145287.3 -1 validated p.V153 0.001 76 0% 31 38.7% - - - - - NULL RNF138 51444 genome.wustl.edu 37 18 29691760 29691760 + Missense_Mutation SNP G G A novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_016271.3 +1 reviewed p.A52T 1.000 43 0% 31 48.4% - - benign(0) tolerated(0.69) neutral(0.002) HMMSmart_SM00184,HMMPfam_zf-C3HC4,superfamily_RING/U-box ASXL3 80816 genome.wustl.edu 37 18 31224860 31224860 + Missense_Mutation SNP G G T novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_030632.1 +1 provisional p.G47V 1.000 81 0% 45 31.1% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL MEX3C 51320 genome.wustl.edu 37 18 48723146 48723154 + In_Frame_Del DEL GCCGCCGCG GCCGCCGCG - rs147438518 byCluster;by1000genomes TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 GCCGCCGCG GCCGCCGCG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_016626.4 -1 reviewed p.AAA182in_frame_del 1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.997 - - - - - - - - - NULL SH3GL1 6455 genome.wustl.edu 37 19 4362632 4362632 + Missense_Mutation SNP C C T novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_003025.2 -1 provisional p.C277Y 0.957 25 0% 41 26.8% - - benign(0) tolerated(0.61) neutral(0.004) NULL PLIN4 729359 genome.wustl.edu 37 19 4513604 4513604 + Missense_Mutation SNP C C A novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_001080400.1 -1 provisional p.G109V 0.114 37 0% 38 36.8% - - probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL INSR 3643 genome.wustl.edu 37 19 7166277 7166277 + Silent SNP G G C novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_000208.2 -1 reviewed p.L583 1.000 45 0% 42 26.2% - - - - - HMMSmart_SM00060,superfamily_Fibronectin type III STXBP2 6813 genome.wustl.edu 37 19 7707118 7707118 + Silent SNP G G C novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_006949.2 +1 reviewed p.L231 0.960 25 0% 30 20% - - - - - HMMPfam_Sec1,superfamily_Sec1/munc18-like (SM) proteins RASAL3 64926 genome.wustl.edu 37 19 15569206 15569206 + Missense_Mutation SNP G G A novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_022904.1 -1 validated p.S274F 0.953 59 0% 36 13.9% - - probably_damaging(0.991) deleterious(0.01) deleterious(0.850) superfamily_PH domain-like CYP4F12 66002 genome.wustl.edu 37 19 15807845 15807845 + Missense_Mutation SNP G G A novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_023944.2 +1 reviewed p.E509K 0.953 51 0% 42 31% - - possibly_damaging(0.51) tolerated(0.91) neutral(0.171) HMMPfam_p450,superfamily_Cytochrome P450 PBX4 80714 genome.wustl.edu 37 19 19710119 19710119 + Missense_Mutation SNP C C T novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_025245.1 -1 reviewed p.E59K 1.000 58 0% 58 15.5% - - possibly_damaging(0.78) deleterious(0) deleterious(0.736) HMMPfam_PBC ZFP14 57677 genome.wustl.edu 37 19 36853041 36853041 + Missense_Mutation SNP C C T novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_020917.1 -1 provisional p.E37K 1.000 60 0% 72 18.1% - - benign(0.388) deleterious(0) deleterious(0.569) HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box ZNF568 374900 genome.wustl.edu 37 19 37428068 37428068 + Silent SNP G G C novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_198539.2 +1 validated p.P94 1.000 115 0% 107 19.6% - - - - - HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352) ZNF585A 199704 genome.wustl.edu 37 19 37646803 37646803 + Missense_Mutation SNP C C G novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_152655.2 -1 validated p.A31P 0.570 136 0% 146 16.4% - - possibly_damaging(0.612) tolerated(0.23) neutral(0.254) NULL PAF1 54623 genome.wustl.edu 37 19 39879239 39879239 + Missense_Mutation SNP C C T novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_019088.2 -1 provisional p.R273Q 1.000 156 0% 112 40.2% - - possibly_damaging(0.671) tolerated(0.44) neutral(0.251) HMMPfam_Paf1 ZNF780B 163131 genome.wustl.edu 37 19 40540531 40540531 + Missense_Mutation SNP G G C novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_001005851.2 -1 validated p.I745M 0.008 39 0% 68 20.6% - - benign(0.02) tolerated(0.13) neutral(0.254) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers ZNF223 7766 genome.wustl.edu 37 19 44570324 44570324 + Missense_Mutation SNP C C G novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_013361.4 +1 validated p.Q115E 0.007 38 0% 52 21.2% - - probably_damaging(0.955) tolerated(0.16) neutral(0.458) NULL ARHGAP35 2909 genome.wustl.edu 37 19 47422124 47422124 + Frame_Shift_Del DEL A A - novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_004491.4 +1 reviewed p.R66fs 0.036 - - - - - - - - - superfamily_P-loop containing nucleoside triphosphate hydrolases LIG1 3978 genome.wustl.edu 37 19 48640286 48640286 + Nonsense_Mutation SNP G G C novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_000234.1 -1 reviewed p.S437* 0.995 36 0% 68 30.9% - - - - - HMMPfam_DNA_ligase_A_N TMEM143 55260 genome.wustl.edu 37 19 48845861 48845861 + Missense_Mutation SNP G G C novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_018273.2 -1 provisional p.L301V 0.990 21 0% 32 18.8% - - possibly_damaging(0.797) tolerated(0.1) deleterious(0.586) NULL GP6 51206 genome.wustl.edu 37 19 55525678 55525678 + Silent SNP C C T novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_001083899.1 -1 validated p.V545 0.077 25 0% 33 30.3% - - - - - NULL PTPRH 5794 genome.wustl.edu 37 19 55697873 55697873 + Missense_Mutation SNP C C G novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_002842.3 -1 validated p.E868Q 0.169 43 0% 38 13.2% - - possibly_damaging(0.916) tolerated(0.3) neutral(0.396) HMMPfam_Y_phosphatase,HMMSmart_SM00194,superfamily_(Phosphotyrosine protein) phosphatases II ZNF470 388566 genome.wustl.edu 37 19 57085906 57085906 + Silent SNP C C A novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b ENST00000446235 +1 known p.L68 0.001 72 0% 73 13.7% - - - - - HMMSmart_SM00349 BTBD3 22903 genome.wustl.edu 37 20 11903722 11903722 + Missense_Mutation SNP C C T novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_014962.2 +1 validated p.A326V 1.000 55 0% 52 15.4% - - benign(0.01) deleterious(0) neutral(0.445) NULL RALGAPA2 57186 genome.wustl.edu 37 20 20493273 20493273 + Silent SNP G G A novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b ENST00000430436 -1 known p.S1397L 0.000 91 0% 93 20.4% - - - - - superfamily_Rap/Ran-GAP (Pfam 02145) SAMHD1 25939 genome.wustl.edu 37 20 35563532 35563532 + Missense_Mutation SNP C C G novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_015474.3 -1 reviewed p.D137H 1.000 83 0% 103 13.6% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF109604 FAM83D 81610 genome.wustl.edu 37 20 37580903 37580903 + Missense_Mutation SNP A A G novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_030919.2 +1 validated p.T530A 0.440 59 0% 76 28.9% - - benign(0.004) tolerated(0.3) neutral(0.029) NULL C20orf111 51526 genome.wustl.edu 37 20 42826225 42826225 + Missense_Mutation SNP C C T novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_016470.6 -1 provisional p.D116N 1.000 56 0% 76 19.7% - - possibly_damaging(0.489) deleterious(0.04) deleterious(0.511) HMMPfam_DUF776 ZBP1 81030 genome.wustl.edu 37 20 56190117 56190117 + Splice_Site SNP C C T novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_030776.2 -1 validated e4-1 0.888 47 0% 66 16.7% - - - - - - ZGPAT 84619 genome.wustl.edu 37 20 62366021 62366021 + Missense_Mutation SNP C C G novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_032527.3 +1 validated p.S299C 0.037 134 0% 173 11.6% - - benign(0.181) tolerated(0.05) neutral(0.362) NULL ZGPAT 84619 genome.wustl.edu 37 20 62366096 62366096 + Missense_Mutation SNP C C G novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_032527.3 +1 validated p.S324C 1.000 116 0% 153 15% - - probably_damaging(0.994) tolerated(0.1) deleterious(0.738) NULL NRIP1 8204 genome.wustl.edu 37 21 16338094 16338094 + Missense_Mutation SNP G G A novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_003489.3 -1 reviewed p.S807L 0.999 42 0% 36 30.6% - - benign(0.004) deleterious(0.01) neutral(0.406) NULL NRIP1 8204 genome.wustl.edu 37 21 16339450 16339450 + Missense_Mutation SNP G G A novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_003489.3 -1 reviewed p.S355F 1.000 64 0% 65 18.5% - - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) NULL JAM2 58494 genome.wustl.edu 37 21 27066088 27066088 + Missense_Mutation SNP G G A novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_021219.2 +1 reviewed p.E88K 1.000 67 0% 70 18.6% - - benign(0.194) tolerated(0.58) neutral(0.023) HMMSmart_IG,HMMPfam_V-set,superfamily_SSF48726 U2AF1 7307 genome.wustl.edu 37 21 44524456 44524456 + Missense_Mutation SNP G G A novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_001025203.1 -1 reviewed p.S34F 1.000 33 0% 46 50% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_zf-CCCH,HMMSmart_ZnF_C3H1 POFUT2 23275 genome.wustl.edu 37 21 46702309 46702309 + Missense_Mutation SNP G G A novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_133635.4 -1 validated p.S198L 0.187 37 0% 41 12.2% - - benign(0.291) tolerated(0.64) neutral(0.092) HMMPfam_O-FucT SLC25A18 83733 genome.wustl.edu 37 22 18072997 18072997 + Missense_Mutation SNP G G A novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_031481.1 +1 provisional p.D315N 0.001 96 0% 128 14.1% - - benign(0) tolerated(0.34) neutral(0.023) NULL HPS4 89781 genome.wustl.edu 37 22 26860445 26860445 + Nonsense_Mutation SNP G G C novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_022081.4 -1 reviewed p.S384* 0.007 32 0% 34 20.6% - - - - - NULL CBX6 23466 genome.wustl.edu 37 22 39262370 39262370 + Missense_Mutation SNP C C A novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_014292.3 -1 validated p.E361D 0.999 28 0% 27 29.6% - - benign(0.004) tolerated(0.27) neutral(0.034) NULL PDGFB 5155 genome.wustl.edu 37 22 39621846 39621846 + Missense_Mutation SNP G G A novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_002608.2 -1 reviewed p.T203M 0.004 66 0% 106 34.9% - - possibly_damaging(0.782) deleterious(0.03) deleterious(0.657) NULL SCUBE1 80274 genome.wustl.edu 37 22 43687119 43687119 + Silent SNP G G A novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_173050.2 -1 validated p.Y139 0.997 44 0% 73 16.4% - - - - - PatternScan_ASX_HYDROXYL,HMMSmart_EGF_CA,HMMPfam_EGF,PatternScan_EGF_CA,superfamily_SSF57196 GRPR 2925 genome.wustl.edu 37 X 16142196 16142196 + Silent SNP C C G novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_005314.2 +1 reviewed p.L40 0.981 45 0% 67 10.4% - - - - - superfamily_Family A G protein-coupled receptor-like DMD 1756 genome.wustl.edu 37 X 32328213 32328213 + Missense_Mutation SNP C C T novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_004006.2 -1 reviewed p.E2035K 1.000 75 0% 85 24.7% - - probably_damaging(0.998) tolerated(0.33) deleterious(0.498) HMMPfam_Spectrin,HMMSmart_SM00150 MAGEB16 139604 genome.wustl.edu 37 X 35820802 35820802 + Silent SNP G G A novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_001099921.1 +1 provisional p.E163 0.002 64 0% 69 17.4% - - - - - HMMPfam_MAGE SUV39H1 6839 genome.wustl.edu 37 X 48558764 48558764 + Missense_Mutation SNP G G A novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_003173.2 +1 reviewed p.E150K 0.998 39 0% 42 19% - - benign(0.02) tolerated(0.66) neutral(0.004) HMMSmart_SM00468,HMMPfam_Pre-SET,superfamily_SET domain KDM5C 8242 genome.wustl.edu 37 X 53241055 53241055 + Missense_Mutation SNP C C G novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_004187.3 -1 reviewed p.E386Q 1.000 59 0% 65 20% - - probably_damaging(0.99) deleterious(0) deleterious(0.886) NULL TSR2 90121 genome.wustl.edu 37 X 54469841 54469841 + Missense_Mutation SNP G G A novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_058163.1 +1 provisional p.E61K 1.000 79 0% 118 11% - - probably_damaging(0.958) deleterious(0.04) deleterious(0.750) HMMPfam_WGG TEX11 56159 genome.wustl.edu 37 X 69902638 69902638 + Missense_Mutation SNP C C T novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_001003811.1 -1 reviewed p.E363K 0.018 64 0% 56 37.5% - - benign(0.013) tolerated(0.13) neutral(0.253) HMMPfam_SPO22,superfamily_TPR-like MED12 9968 genome.wustl.edu 37 X 70351964 70351964 + Silent SNP C C T novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_005120.2 +1 reviewed p.I1387 0.291 46 0% 50 74% - - - - - NULL TAF1 6872 genome.wustl.edu 37 X 70617291 70617291 + Missense_Mutation SNP C C T novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_004606.3 +1 reviewed p.R1219W 1.000 58 0% 41 85.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL MCART6 401612 genome.wustl.edu 37 X 103349476 103349476 + Silent SNP G G A novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_001012755.3 -1 validated p.F155 0.810 38 0% 21 19% - - - - - superfamily_Mitochondrial carrier,HMMPfam_Mito_carr SERPINA7 6906 genome.wustl.edu 37 X 105277621 105277621 + Missense_Mutation SNP G G A novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_000354.5 -1 reviewed p.S373L 0.000 60 0% 63 11.1% - - benign(0) tolerated(0.62) neutral(0.004) HMMPfam_Serpin,HMMSmart_SERPIN,superfamily_Prot_inh_serpin GPR112 139378 genome.wustl.edu 37 X 135455203 135455203 + Missense_Mutation SNP G G A novel TCGA-EY-A1GS-01A-11D-A13L-09 TCGA-EY-A1GS-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0c39c03a-ec84-42c6-be69-8e98bc7a9f5a aaf43383-6a55-49d1-8131-78c18bc1843b NM_153834.3 +1 reviewed p.E2586K 0.000 75 0% 40 87.5% - - possibly_damaging(0.9) deleterious(0.01) deleterious(0.762) NULL