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 THRAP3 9967 genome.wustl.edu 37 1 36748231 36748231 + Missense_Mutation SNP C C T novel TCGA-AX-A1C8-01A-11D-A135-09 TCGA-AX-A1C8-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 00db4dc2-3ec7-4ff9-9233-d69c8c8a607f 2946981b-5cf6-4e0b-a45e-6c0b34a79170 NM_005119.3 +1 validated p.R23C 1.000 65 0% 65 23.1% - - unknown(0) deleterious(0) - NULL KCNA10 3744 genome.wustl.edu 37 1 111060344 111060344 + Missense_Mutation SNP G G A novel TCGA-AX-A1C8-01A-11D-A135-09 TCGA-AX-A1C8-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 00db4dc2-3ec7-4ff9-9233-d69c8c8a607f 2946981b-5cf6-4e0b-a45e-6c0b34a79170 NM_005549.2 -1 reviewed p.R356C 1.000 31 0% 28 21.4% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ion_trans,superfamily_SSF81324 WDR3 10885 genome.wustl.edu 37 1 118497226 118497226 + Missense_Mutation SNP C C G novel TCGA-AX-A1C8-01A-11D-A135-09 TCGA-AX-A1C8-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 00db4dc2-3ec7-4ff9-9233-d69c8c8a607f 2946981b-5cf6-4e0b-a45e-6c0b34a79170 NM_006784.2 +1 reviewed p.I795M 1.000 100 0% 50 54% - - benign(0.042) tolerated(0.17) neutral(0.061) HMMPfam_Utp12 ABL2 27 genome.wustl.edu 37 1 179077589 179077589 + Missense_Mutation SNP G G T novel TCGA-AX-A1C8-01A-11D-A135-09 TCGA-AX-A1C8-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 00db4dc2-3ec7-4ff9-9233-d69c8c8a607f 2946981b-5cf6-4e0b-a45e-6c0b34a79170 NM_007314.3 -1 reviewed p.T938N 1.000 82 0% 87 12.6% - - probably_damaging(0.976) deleterious(0) deleterious(0.863) NULL CFHR4 10877 genome.wustl.edu 37 1 196881909 196881909 + Missense_Mutation SNP T T C novel TCGA-AX-A1C8-01A-11D-A135-09 TCGA-AX-A1C8-10A-01D-A135-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 00db4dc2-3ec7-4ff9-9233-d69c8c8a607f 2946981b-5cf6-4e0b-a45e-6c0b34a79170 NM_006684.2 +1 validated p.F99S 0.086 35 0% 32 53.1% - - probably_damaging(0.994) tolerated(0.4) neutral(0.468) HMMPfam_Sushi,HMMSmart_CCP,superfamily_Complement_control_module PTPRC 5788 genome.wustl.edu 37 1 198668743 198668743 + Missense_Mutation SNP A A T novel TCGA-AX-A1C8-01A-11D-A135-09 TCGA-AX-A1C8-10A-01D-A135-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 00db4dc2-3ec7-4ff9-9233-d69c8c8a607f 2946981b-5cf6-4e0b-a45e-6c0b34a79170 NM_002838.3 +1 reviewed p.T115S 0.002 35 0% 36 11.1% - - benign(0.156) tolerated(0.16) neutral(0.073) NULL CACNA1S 779 genome.wustl.edu 37 1 201027535 201027535 + Splice_Site SNP C C T novel TCGA-AX-A1C8-01A-11D-A135-09 TCGA-AX-A1C8-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 00db4dc2-3ec7-4ff9-9233-d69c8c8a607f 2946981b-5cf6-4e0b-a45e-6c0b34a79170 NM_000069.2 -1 reviewed e28+1 1.000 42 0% 66 13.6% - - - - - - RGPD8 727851 genome.wustl.edu 37 2 113145718 113145718 + Missense_Mutation SNP C C T novel TCGA-AX-A1C8-01A-11D-A135-09 TCGA-AX-A1C8-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 00db4dc2-3ec7-4ff9-9233-d69c8c8a607f 2946981b-5cf6-4e0b-a45e-6c0b34a79170 ENST00000302558 -1 known p.E1602K 0.009 65 0% 49 24.5% - - possibly_damaging(0.873) tolerated(0.23) neutral(0.381) NULL ABCB6 10058 genome.wustl.edu 37 2 220079780 220079780 + Silent SNP G G A novel TCGA-AX-A1C8-01A-11D-A135-09 TCGA-AX-A1C8-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 00db4dc2-3ec7-4ff9-9233-d69c8c8a607f 2946981b-5cf6-4e0b-a45e-6c0b34a79170 ENST00000295750 -1 known p.P241L 1.000 89 0% 69 15.9% - - - - - HMMPfam_ABC_membrane,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain WNT7A 7476 genome.wustl.edu 37 3 13916619 13916619 + Silent SNP G G T novel TCGA-AX-A1C8-01A-11D-A135-09 TCGA-AX-A1C8-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 00db4dc2-3ec7-4ff9-9233-d69c8c8a607f 2946981b-5cf6-4e0b-a45e-6c0b34a79170 NM_004625.3 -1 reviewed p.I41 1.000 30 0% 23 43.5% - - - - - HMMPfam_wnt,HMMSmart_SM00097 DHX30 22907 genome.wustl.edu 37 3 47890039 47890039 + Missense_Mutation SNP C C G rs111860479 TCGA-AX-A1C8-01A-11D-A135-09 TCGA-AX-A1C8-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 00db4dc2-3ec7-4ff9-9233-d69c8c8a607f 2946981b-5cf6-4e0b-a45e-6c0b34a79170 NM_138615.2 +1 reviewed p.I858M 0.549 60 0% 44 25% - - possibly_damaging(0.576) tolerated(0.21) neutral(0.241) HMMPfam_HA2,superfamily_P-loop containing nucleoside triphosphate hydrolases DNAJC13 23317 genome.wustl.edu 37 3 132247129 132247129 + Missense_Mutation SNP G G A novel TCGA-AX-A1C8-01A-11D-A135-09 TCGA-AX-A1C8-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 00db4dc2-3ec7-4ff9-9233-d69c8c8a607f 2946981b-5cf6-4e0b-a45e-6c0b34a79170 NM_015268.3 +1 validated p.V2160I 1.000 67 0% 65 29.2% - - possibly_damaging(0.948) tolerated(0.15) deleterious(0.632) superfamily_ARM repeat TOPBP1 11073 genome.wustl.edu 37 3 133356971 133356971 + Missense_Mutation SNP T T C novel TCGA-AX-A1C8-01A-11D-A135-09 TCGA-AX-A1C8-10A-01D-A135-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 00db4dc2-3ec7-4ff9-9233-d69c8c8a607f 2946981b-5cf6-4e0b-a45e-6c0b34a79170 NM_007027.3 -1 reviewed p.N757D 0.006 80 0% 95 34.7% - - benign(0.011) tolerated(0.61) neutral(0.005) superfamily_BRCT domain ALPK1 80216 genome.wustl.edu 37 4 113353463 113353463 + Silent SNP C C T novel TCGA-AX-A1C8-01A-11D-A135-09 TCGA-AX-A1C8-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 00db4dc2-3ec7-4ff9-9233-d69c8c8a607f 2946981b-5cf6-4e0b-a45e-6c0b34a79170 ENST00000504176 +1 known p.Q10* 0.299 36 0% 39 23.1% - - - - - NULL FBXW7 55294 genome.wustl.edu 37 4 153249510 153249510 + Missense_Mutation SNP C C A novel TCGA-AX-A1C8-01A-11D-A135-09 TCGA-AX-A1C8-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 00db4dc2-3ec7-4ff9-9233-d69c8c8a607f 2946981b-5cf6-4e0b-a45e-6c0b34a79170 NM_033632.2 -1 reviewed p.G423V 1.000 81 0% 69 37.7% - - probably_damaging(0.998) deleterious(0) deleterious(0.919) HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 GPR98 84059 genome.wustl.edu 37 5 89943434 89943435 + Frame_Shift_Del DEL AG AG - novel TCGA-AX-A1C8-01A-11D-A135-09 TCGA-AX-A1C8-10A-01D-A135-09 AG AG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 00db4dc2-3ec7-4ff9-9233-d69c8c8a607f 2946981b-5cf6-4e0b-a45e-6c0b34a79170 NM_032119.3 +1 reviewed p.D1051fs 0.000:0.030 - - - - - - - - - HMMPfam_Calx-beta,HMMSmart_SM00237 POU4F3 5459 genome.wustl.edu 37 5 145719176 145719176 + Silent SNP G G A novel TCGA-AX-A1C8-01A-11D-A135-09 TCGA-AX-A1C8-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 00db4dc2-3ec7-4ff9-9233-d69c8c8a607f 2946981b-5cf6-4e0b-a45e-6c0b34a79170 NM_002700.2 +1 reviewed p.A62 0.998 37 0% 49 34.7% - - - - - NULL HLA-B 3106 genome.wustl.edu 37 6 31324431 31324432 + In_Frame_Ins INS - - GGG novel TCGA-AX-A1C8-01A-11D-A135-09 TCGA-AX-A1C8-10A-01D-A135-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 00db4dc2-3ec7-4ff9-9233-d69c8c8a607f 2946981b-5cf6-4e0b-a45e-6c0b34a79170 ENST00000428231 -1 known p.116in_frame_insP 0.009:0.019 - - - - - - - - - NULL DST 667 genome.wustl.edu 37 6 56483447 56483447 + Silent SNP A A G novel TCGA-AX-A1C8-01A-11D-A135-09 TCGA-AX-A1C8-10A-01D-A135-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 00db4dc2-3ec7-4ff9-9233-d69c8c8a607f 2946981b-5cf6-4e0b-a45e-6c0b34a79170 NM_001723.5 -1 reviewed p.L1795 0.886 82 0% 57 36.8% - - - - - NULL ZNF451 26036 genome.wustl.edu 37 6 57017052 57017052 + Missense_Mutation SNP G G A novel TCGA-AX-A1C8-01A-11D-A135-09 TCGA-AX-A1C8-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 00db4dc2-3ec7-4ff9-9233-d69c8c8a607f 2946981b-5cf6-4e0b-a45e-6c0b34a79170 NM_001031623.2 +1 validated p.C929Y 1.000 70 0% 44 40.9% - - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) NULL C6orf170 221322 genome.wustl.edu 37 6 121447533 121447533 + Missense_Mutation SNP C C G novel TCGA-AX-A1C8-01A-11D-A135-09 TCGA-AX-A1C8-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 00db4dc2-3ec7-4ff9-9233-d69c8c8a607f 2946981b-5cf6-4e0b-a45e-6c0b34a79170 NM_152730.4 -1 validated p.E992Q 0.997 35 0% 40 50% - - probably_damaging(0.999) tolerated(0.11) deleterious(0.762) NULL HECW1 23072 genome.wustl.edu 37 7 43351602 43351602 + Missense_Mutation SNP A A G novel TCGA-AX-A1C8-01A-11D-A135-09 TCGA-AX-A1C8-10A-01D-A135-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 00db4dc2-3ec7-4ff9-9233-d69c8c8a607f 2946981b-5cf6-4e0b-a45e-6c0b34a79170 NM_015052.3 +1 validated p.I90V 1.000 52 0% 41 14.6% - - possibly_damaging(0.916) deleterious(0.01) deleterious(0.772) NULL EPO 2056 genome.wustl.edu 37 7 100320703 100320703 + Missense_Mutation SNP C C T novel TCGA-AX-A1C8-01A-11D-A135-09 TCGA-AX-A1C8-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 00db4dc2-3ec7-4ff9-9233-d69c8c8a607f 2946981b-5cf6-4e0b-a45e-6c0b34a79170 NM_000799.2 +1 reviewed p.R177W 0.999 35 0% 26 42.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_EPO_TPO,superfamily_4_helix_cytokine MYOM2 9172 genome.wustl.edu 37 8 2057285 2057285 + Missense_Mutation SNP G G A novel TCGA-AX-A1C8-01A-11D-A135-09 TCGA-AX-A1C8-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 00db4dc2-3ec7-4ff9-9233-d69c8c8a607f 2946981b-5cf6-4e0b-a45e-6c0b34a79170 NM_003970.2 +1 validated p.R1048Q 0.995 61 0% 37 54.1% - - benign(0.175) tolerated(0.3) neutral(0.044) NULL LRP12 29967 genome.wustl.edu 37 8 105511574 105511574 + Missense_Mutation SNP C C G novel TCGA-AX-A1C8-01A-11D-A135-09 TCGA-AX-A1C8-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 00db4dc2-3ec7-4ff9-9233-d69c8c8a607f 2946981b-5cf6-4e0b-a45e-6c0b34a79170 NM_013437.4 -1 reviewed p.R149T 0.886 74 0% 91 26.4% - - possibly_damaging(0.736) tolerated(0.34) neutral(0.292) HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain COL22A1 169044 genome.wustl.edu 37 8 139895384 139895384 + Missense_Mutation SNP C C T novel TCGA-AX-A1C8-01A-11D-A135-09 TCGA-AX-A1C8-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 00db4dc2-3ec7-4ff9-9233-d69c8c8a607f 2946981b-5cf6-4e0b-a45e-6c0b34a79170 NM_152888.1 -1 validated p.G11D 0.000 27 0% 25 28% - - unknown(0) deleterious(0) - NULL MPDZ 8777 genome.wustl.edu 37 9 13150534 13150534 + Silent SNP C C T novel TCGA-AX-A1C8-01A-11D-A135-09 TCGA-AX-A1C8-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 00db4dc2-3ec7-4ff9-9233-d69c8c8a607f 2946981b-5cf6-4e0b-a45e-6c0b34a79170 ENST00000433359 -1 known p.E140K 1.000 74 0% 41 63.4% - - - - - HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like SHC3 53358 genome.wustl.edu 37 9 91652909 91652909 + Missense_Mutation SNP G G A novel TCGA-AX-A1C8-01A-11D-A135-09 TCGA-AX-A1C8-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 00db4dc2-3ec7-4ff9-9233-d69c8c8a607f 2946981b-5cf6-4e0b-a45e-6c0b34a79170 NM_016848.4 -1 validated p.T552M 1.000 10 0% 19 36.8% - - probably_damaging(0.987) deleterious(0.01) deleterious(0.842) HMMPfam_SH2,HMMSmart_SM00252,superfamily_SH2 domain XPA 7507 genome.wustl.edu 37 9 100449449 100449449 + Missense_Mutation SNP G G C novel TCGA-AX-A1C8-01A-11D-A135-09 TCGA-AX-A1C8-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 00db4dc2-3ec7-4ff9-9233-d69c8c8a607f 2946981b-5cf6-4e0b-a45e-6c0b34a79170 NM_000380.3 -1 reviewed p.L162V 1.000 83 0% 92 31.5% - - benign(0.187) deleterious(0) neutral(0.462) HMMPfam_XPA_C,superfamily_Putativ_DNA_bind ANAPC2 29882 genome.wustl.edu 37 9 140079477 140079477 + Silent SNP G G A novel TCGA-AX-A1C8-01A-11D-A135-09 TCGA-AX-A1C8-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 00db4dc2-3ec7-4ff9-9233-d69c8c8a607f 2946981b-5cf6-4e0b-a45e-6c0b34a79170 NM_013366.3 -1 reviewed p.P312 0.001 17 0% 18 61.1% - - - - - NULL BICC1 80114 genome.wustl.edu 37 10 60577360 60577360 + Missense_Mutation SNP A A G novel TCGA-AX-A1C8-01A-11D-A135-09 TCGA-AX-A1C8-10A-01D-A135-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 00db4dc2-3ec7-4ff9-9233-d69c8c8a607f 2946981b-5cf6-4e0b-a45e-6c0b34a79170 NM_001080512.1 +1 reviewed p.I858V 1.000 53 0% 56 33.9% - - benign(0.094) tolerated(0.33) neutral(0.031) NULL TLX1NB 100038246 genome.wustl.edu 37 10 102849421 102849421 + Missense_Mutation SNP T T C novel TCGA-AX-A1C8-01A-11D-A135-09 TCGA-AX-A1C8-10A-01D-A135-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 00db4dc2-3ec7-4ff9-9233-d69c8c8a607f 2946981b-5cf6-4e0b-a45e-6c0b34a79170 NM_001085398.1 -1 validated p.H81R 0.262 27 0% 26 26.9% - - - - - NULL SCGB1D1 10648 genome.wustl.edu 37 11 61959695 61959695 + Missense_Mutation SNP G G T novel TCGA-AX-A1C8-01A-11D-A135-09 TCGA-AX-A1C8-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 00db4dc2-3ec7-4ff9-9233-d69c8c8a607f 2946981b-5cf6-4e0b-a45e-6c0b34a79170 NM_006552.1 +1 reviewed p.V75L 0.000 57 0% 54 42.6% - - benign(0) tolerated(0.88) - HMMPfam_Uteroglobin,HMMSmart_UTG,superfamily_Secretoglobin PIWIL4 143689 genome.wustl.edu 37 11 94351149 94351149 + Missense_Mutation SNP C C G novel TCGA-AX-A1C8-01A-11D-A135-09 TCGA-AX-A1C8-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 00db4dc2-3ec7-4ff9-9233-d69c8c8a607f 2946981b-5cf6-4e0b-a45e-6c0b34a79170 NM_152431.2 +1 validated p.H682D 1.000 32 0% 31 48.4% - - benign(0.019) tolerated(0.55) neutral(0.008) HMMPfam_Piwi,superfamily_Ribonuclease H-like C1RL 51279 genome.wustl.edu 37 12 7249442 7249442 + Missense_Mutation SNP T T C novel TCGA-AX-A1C8-01A-11D-A135-09 TCGA-AX-A1C8-10A-01D-A135-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 00db4dc2-3ec7-4ff9-9233-d69c8c8a607f 2946981b-5cf6-4e0b-a45e-6c0b34a79170 NM_016546.2 -1 validated p.S337G 0.018 53 0% 50 36% - - benign(0.003) deleterious(0.02) neutral(0.383) HMMPfam_Trypsin,HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys ITPR2 3709 genome.wustl.edu 37 12 26639102 26639102 + Missense_Mutation SNP C C T novel TCGA-AX-A1C8-01A-11D-A135-09 TCGA-AX-A1C8-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 00db4dc2-3ec7-4ff9-9233-d69c8c8a607f 2946981b-5cf6-4e0b-a45e-6c0b34a79170 NM_002223.2 -1 validated p.A1916T 0.999 155 0% 119 28.6% - - benign(0) tolerated(0.68) neutral(0.002) HMMPfam_RIH_assoc PTPN11 5781 genome.wustl.edu 37 12 112926249 112926249 + Missense_Mutation SNP C C G novel TCGA-AX-A1C8-01A-11D-A135-09 TCGA-AX-A1C8-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 00db4dc2-3ec7-4ff9-9233-d69c8c8a607f 2946981b-5cf6-4e0b-a45e-6c0b34a79170 NM_002834.3 +1 reviewed p.A461G 1.000 63 0% 70 37.1% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) HMMPfam_Y_phosphatase,HMMSmart_SM00194,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1,superfamily_(Phosphotyrosine protein) phosphatases II MED13L 23389 genome.wustl.edu 37 12 116429385 116429385 + Missense_Mutation SNP T T A novel TCGA-AX-A1C8-01A-11D-A135-09 TCGA-AX-A1C8-10A-01D-A135-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 00db4dc2-3ec7-4ff9-9233-d69c8c8a607f 2946981b-5cf6-4e0b-a45e-6c0b34a79170 NM_015335.3 -1 validated p.D1125V 1.000 38 0% 37 48.6% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL TMEM132B 114795 genome.wustl.edu 37 12 126003992 126003992 + Missense_Mutation SNP G G C novel TCGA-AX-A1C8-01A-11D-A135-09 TCGA-AX-A1C8-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 00db4dc2-3ec7-4ff9-9233-d69c8c8a607f 2946981b-5cf6-4e0b-a45e-6c0b34a79170 NM_052907.2 +1 provisional p.G367R 0.987 70 0% 47 40.4% - - benign(0.244) tolerated(0.52) neutral(0.033) NULL HIF1A 3091 genome.wustl.edu 37 14 62193491 62193491 + Silent SNP A A G novel TCGA-AX-A1C8-01A-11D-A135-09 TCGA-AX-A1C8-10A-01D-A135-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 00db4dc2-3ec7-4ff9-9233-d69c8c8a607f 2946981b-5cf6-4e0b-a45e-6c0b34a79170 NM_001530.3 +1 validated p.L175 0.971 70 0% 54 46.3% - - - - - NULL SYNE2 23224 genome.wustl.edu 37 14 64519073 64519073 + Silent SNP A A G novel TCGA-AX-A1C8-01A-11D-A135-09 TCGA-AX-A1C8-10A-01D-A135-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 00db4dc2-3ec7-4ff9-9233-d69c8c8a607f 2946981b-5cf6-4e0b-a45e-6c0b34a79170 NM_182914.2 +1 reviewed p.Q2814 0.020 20 0% 31 35.5% - - - - - HMMSmart_SPEC,superfamily_Spectrin GOLGA5 9950 genome.wustl.edu 37 14 93282627 93282627 + Frame_Shift_Del DEL A A - novel TCGA-AX-A1C8-01A-11D-A135-09 TCGA-AX-A1C8-10A-01D-A135-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 00db4dc2-3ec7-4ff9-9233-d69c8c8a607f 2946981b-5cf6-4e0b-a45e-6c0b34a79170 NM_005113.2 +1 reviewed p.G452fs 1.000 - - - - - - - - - superfamily_Prefoldin,HMMPfam_Golgin_A5 MYEF2 50804 genome.wustl.edu 37 15 48446043 48446043 + Missense_Mutation SNP T T C novel TCGA-AX-A1C8-01A-11D-A135-09 TCGA-AX-A1C8-10A-01D-A135-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 00db4dc2-3ec7-4ff9-9233-d69c8c8a607f 2946981b-5cf6-4e0b-a45e-6c0b34a79170 NM_016132.3 -1 validated p.I345V 1.000 37 0% 38 36.8% - - probably_damaging(0.97) tolerated(0.1) deleterious(0.699) superfamily_RNA-binding domain RBD C15orf26 161502 genome.wustl.edu 37 15 81426729 81426729 + Missense_Mutation SNP A A G novel TCGA-AX-A1C8-01A-11D-A135-09 TCGA-AX-A1C8-10A-01D-A135-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 00db4dc2-3ec7-4ff9-9233-d69c8c8a607f 2946981b-5cf6-4e0b-a45e-6c0b34a79170 NM_173528.2 +1 predicted p.Y20C 0.999 37 0% 30 50% - - benign(0.026) tolerated(0.5) neutral(0.011) NULL SMG1 23049 genome.wustl.edu 37 16 18846262 18846262 + Missense_Mutation SNP G G T novel TCGA-AX-A1C8-01A-11D-A135-09 TCGA-AX-A1C8-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 00db4dc2-3ec7-4ff9-9233-d69c8c8a607f 2946981b-5cf6-4e0b-a45e-6c0b34a79170 NM_015092.4 -1 reviewed p.S2761Y 0.997 60 0% 115 19.1% - - possibly_damaging(0.745) deleterious(0.04) deleterious(0.623) NULL PRMT7 54496 genome.wustl.edu 37 16 68386282 68386282 + Silent SNP C C T novel TCGA-AX-A1C8-01A-11D-A135-09 TCGA-AX-A1C8-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 00db4dc2-3ec7-4ff9-9233-d69c8c8a607f 2946981b-5cf6-4e0b-a45e-6c0b34a79170 NM_019023.2 +1 validated p.A515 0.999 31 0% 47 29.8% - - - - - superfamily_S-adenosyl-L-methionine-dependent methyltransferases ABR 29 genome.wustl.edu 37 17 953369 953369 + Missense_Mutation SNP T T C novel TCGA-AX-A1C8-01A-11D-A135-09 TCGA-AX-A1C8-10A-01D-A135-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 00db4dc2-3ec7-4ff9-9233-d69c8c8a607f 2946981b-5cf6-4e0b-a45e-6c0b34a79170 NM_021962.2 -1 reviewed p.E571G 1.000 138 0% 109 69.7% - - possibly_damaging(0.778) deleterious(0.01) deleterious(0.697) HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) TP53 7157 genome.wustl.edu 37 17 7578540 7578548 + In_Frame_Del DEL GAGGGCAGG GAGGGCAGG - novel TCGA-AX-A1C8-01A-11D-A135-09 TCGA-AX-A1C8-10A-01D-A135-09 GAGGGCAGG GAGGGCAGG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 00db4dc2-3ec7-4ff9-9233-d69c8c8a607f 2946981b-5cf6-4e0b-a45e-6c0b34a79170 NM_000546.4 -1 reviewed p.PAL128in_frame_del 0.961:0.992:0.985:0.023:0.000:0.000:0.000:0.106:0.116 - - - - - - - - - superfamily_p53-like transcription factors,HMMPfam_P53 ULK2 9706 genome.wustl.edu 37 17 19720149 19720149 + Missense_Mutation SNP C C A novel TCGA-AX-A1C8-01A-11D-A135-09 TCGA-AX-A1C8-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 00db4dc2-3ec7-4ff9-9233-d69c8c8a607f 2946981b-5cf6-4e0b-a45e-6c0b34a79170 NM_001142610.1 -1 reviewed p.D337Y 1.000 70 0% 81 24.7% - - probably_damaging(0.991) deleterious(0.03) deleterious(0.808) superfamily_Protein kinase-like (PK-like) SUPT6H 6830 genome.wustl.edu 37 17 27004799 27004799 + Missense_Mutation SNP A A T novel TCGA-AX-A1C8-01A-11D-A135-09 TCGA-AX-A1C8-10A-01D-A135-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 00db4dc2-3ec7-4ff9-9233-d69c8c8a607f 2946981b-5cf6-4e0b-a45e-6c0b34a79170 NM_003170.3 +1 validated p.R322W 1.000 50 0% 42 45.2% - - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL GRB7 2886 genome.wustl.edu 37 17 37901530 37901531 + Frame_Shift_Del DEL CA CA - novel TCGA-AX-A1C8-01A-11D-A135-09 TCGA-AX-A1C8-10A-01D-A135-09 CA CA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 00db4dc2-3ec7-4ff9-9233-d69c8c8a607f 2946981b-5cf6-4e0b-a45e-6c0b34a79170 NM_001030002.1 +1 reviewed p.Q350fs 0.998:0.996 - - - - - - - - - NULL BZRAP1 9256 genome.wustl.edu 37 17 56400891 56400891 + Missense_Mutation SNP C C T novel TCGA-AX-A1C8-01A-11D-A135-09 TCGA-AX-A1C8-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 00db4dc2-3ec7-4ff9-9233-d69c8c8a607f 2946981b-5cf6-4e0b-a45e-6c0b34a79170 NM_004758.2 -1 validated p.D320N 0.974 65 0% 137 17.5% - - benign(0.349) tolerated(0.06) neutral(0.433) NULL BZRAP1 9256 genome.wustl.edu 37 17 56403692 56403692 + Missense_Mutation SNP C C G novel TCGA-AX-A1C8-01A-11D-A135-09 TCGA-AX-A1C8-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 00db4dc2-3ec7-4ff9-9233-d69c8c8a607f 2946981b-5cf6-4e0b-a45e-6c0b34a79170 NM_004758.2 -1 validated p.E178Q 1.000 74 0% 119 21% - - probably_damaging(1) tolerated(0.07) deleterious(0.819) NULL PSTPIP2 9050 genome.wustl.edu 37 18 43570717 43570717 + Missense_Mutation SNP C C G novel TCGA-AX-A1C8-01A-11D-A135-09 TCGA-AX-A1C8-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 00db4dc2-3ec7-4ff9-9233-d69c8c8a607f 2946981b-5cf6-4e0b-a45e-6c0b34a79170 NM_024430.3 -1 validated p.G309A 1.000 66 0% 74 9.5% - - benign(0.34) deleterious(0.05) neutral(0.453) NULL CDH19 28513 genome.wustl.edu 37 18 64239412 64239412 + Missense_Mutation SNP C C T novel TCGA-AX-A1C8-01A-11D-A135-09 TCGA-AX-A1C8-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 00db4dc2-3ec7-4ff9-9233-d69c8c8a607f 2946981b-5cf6-4e0b-a45e-6c0b34a79170 NM_021153.2 -1 reviewed p.M10I 0.003 64 0% 50 46% - - benign(0) tolerated(0.5) neutral(0.010) NULL MUC16 94025 genome.wustl.edu 37 19 9090262 9090262 + Missense_Mutation SNP G G A novel TCGA-AX-A1C8-01A-11D-A135-09 TCGA-AX-A1C8-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 00db4dc2-3ec7-4ff9-9233-d69c8c8a607f 2946981b-5cf6-4e0b-a45e-6c0b34a79170 NM_024690.2 -1 validated p.S518L 0.002 70 0% 40 55% - - unknown(0) - - NULL TSHZ3 57616 genome.wustl.edu 37 19 31769600 31769600 + Missense_Mutation SNP C C T novel TCGA-AX-A1C8-01A-11D-A135-09 TCGA-AX-A1C8-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 00db4dc2-3ec7-4ff9-9233-d69c8c8a607f 2946981b-5cf6-4e0b-a45e-6c0b34a79170 NM_020856.2 -1 validated p.G367S 1.000 143 0% 265 17% - - probably_damaging(0.996) deleterious(0) deleterious(0.906) NULL RHPN2 85415 genome.wustl.edu 37 19 33471017 33471017 + Missense_Mutation SNP C C G novel TCGA-AX-A1C8-01A-11D-A135-09 TCGA-AX-A1C8-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 00db4dc2-3ec7-4ff9-9233-d69c8c8a607f 2946981b-5cf6-4e0b-a45e-6c0b34a79170 NM_033103.4 -1 reviewed p.R649T 1.000 78 0% 157 21% - - possibly_damaging(0.952) deleterious(0.01) deleterious(0.801) NULL PSG6 5675 genome.wustl.edu 37 19 43414696 43414696 + Missense_Mutation SNP G G T novel TCGA-AX-A1C8-01A-11D-A135-09 TCGA-AX-A1C8-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 00db4dc2-3ec7-4ff9-9233-d69c8c8a607f 2946981b-5cf6-4e0b-a45e-6c0b34a79170 ENST00000402456 -1 known p.H248N 0.000 34 0% 37 59.5% - - benign(0.017) tolerated(0.17) neutral(0.059) NULL EHD2 30846 genome.wustl.edu 37 19 48239659 48239659 + Missense_Mutation SNP G G A novel TCGA-AX-A1C8-01A-11D-A135-09 TCGA-AX-A1C8-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 00db4dc2-3ec7-4ff9-9233-d69c8c8a607f 2946981b-5cf6-4e0b-a45e-6c0b34a79170 NM_014601.3 +1 reviewed p.E317K 1.000 44 0% 47 31.9% - - benign(0) tolerated(0.2) neutral(0.049) NULL PPP2R1A 5518 genome.wustl.edu 37 19 52715971 52715971 + Missense_Mutation SNP C C G novel TCGA-AX-A1C8-01A-11D-A135-09 TCGA-AX-A1C8-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 00db4dc2-3ec7-4ff9-9233-d69c8c8a607f 2946981b-5cf6-4e0b-a45e-6c0b34a79170 NM_014225.5 +1 reviewed p.P179R 1.000 31 0% 13 53.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HEAT,superfamily_ARM repeat PYGB 5834 genome.wustl.edu 37 20 25274857 25274857 + Silent SNP C C T novel TCGA-AX-A1C8-01A-11D-A135-09 TCGA-AX-A1C8-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 00db4dc2-3ec7-4ff9-9233-d69c8c8a607f 2946981b-5cf6-4e0b-a45e-6c0b34a79170 ENST00000428458 +1 known p.A166V 0.004 65 0% 44 43.2% - - - - - HMMPfam_Phosphorylase,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase PSMG1 8624 genome.wustl.edu 37 21 40553791 40553791 + Missense_Mutation SNP G G A novel TCGA-AX-A1C8-01A-11D-A135-09 TCGA-AX-A1C8-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 00db4dc2-3ec7-4ff9-9233-d69c8c8a607f 2946981b-5cf6-4e0b-a45e-6c0b34a79170 NM_003720.2 -1 validated p.L50F 0.899 38 0% 36 30.6% - - benign(0) tolerated(0.24) neutral(0.037) NULL MYO18B 84700 genome.wustl.edu 37 22 26422788 26422788 + Missense_Mutation SNP C C T novel TCGA-AX-A1C8-01A-11D-A135-09 TCGA-AX-A1C8-10A-01D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 00db4dc2-3ec7-4ff9-9233-d69c8c8a607f 2946981b-5cf6-4e0b-a45e-6c0b34a79170 NM_032608.5 +1 reviewed p.T2283M 1.000 23 0.000 9 0.778 - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL UQCR10 29796 genome.wustl.edu 37 22 30163451 30163451 + Missense_Mutation SNP G G A novel TCGA-AX-A1C8-01A-11D-A135-09 TCGA-AX-A1C8-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 00db4dc2-3ec7-4ff9-9233-d69c8c8a607f 2946981b-5cf6-4e0b-a45e-6c0b34a79170 NM_013387.3 +1 validated p.A22T 1.000 37 0% 53 13.2% - - benign(0.227) tolerated(0.19) neutral(0.072) HMMPfam_UCR_UQCRX_QCR9,superfamily_Ubiquinol_cytC_Reductase_QCR9 USP9X 8239 genome.wustl.edu 37 X 41073894 41073894 + Missense_Mutation SNP G G A novel TCGA-AX-A1C8-01A-11D-A135-09 TCGA-AX-A1C8-10A-01D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 00db4dc2-3ec7-4ff9-9233-d69c8c8a607f 2946981b-5cf6-4e0b-a45e-6c0b34a79170 NM_001039590.2 +1 reviewed p.E1755K 1.000 46 0% 49 22.4% - - benign(0.033) tolerated(0.15) neutral(0.242) HMMPfam_UCH,superfamily_Cysteine proteinases