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 MTOR 2475 genome.wustl.edu 37 1 11188173 11188173 + Missense_Mutation SNP T T C novel TCGA-D1-A1NU-01A-11D-A14G-09 TCGA-D1-A1NU-10A-01D-A14G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 696376d3-d5d0-4023-8623-97f206138f7e 8ea99948-820a-45b7-ab96-484fbbc9952a NM_004958.3 -1 reviewed p.Y1974C 1.000 58 0% 82 48.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_ARM-type_fold NRD1 4898 genome.wustl.edu 37 1 52269496 52269496 + Missense_Mutation SNP T T A novel TCGA-D1-A1NU-01A-11D-A14G-09 TCGA-D1-A1NU-10A-01D-A14G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 696376d3-d5d0-4023-8623-97f206138f7e 8ea99948-820a-45b7-ab96-484fbbc9952a NM_002525.2 -1 validated p.H836L 1.000 74 0% 87 47.1% - - probably_damaging(0.979) deleterious(0.01) deleterious(0.828) superfamily_Metalloenz_metal-bd CRYZ 1429 genome.wustl.edu 37 1 75190458 75190458 + Frame_Shift_Del DEL A A - novel TCGA-D1-A1NU-01A-11D-A14G-09 TCGA-D1-A1NU-10A-01D-A14G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 696376d3-d5d0-4023-8623-97f206138f7e 8ea99948-820a-45b7-ab96-484fbbc9952a NM_001130042.1 -1 reviewed p.F16fs 1.000 - - - - - - - - - superfamily_GroES_like COL11A1 1301 genome.wustl.edu 37 1 103477987 103477987 + Silent SNP A A T novel TCGA-D1-A1NU-01A-11D-A14G-09 TCGA-D1-A1NU-10A-01D-A14G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 696376d3-d5d0-4023-8623-97f206138f7e 8ea99948-820a-45b7-ab96-484fbbc9952a NM_080629.2 -1 reviewed p.T549 0.999 29 0% 39 51.3% - - - - - HMMPfam_Collagen TARS2 80222 genome.wustl.edu 37 1 150477198 150477198 + Silent SNP C C T novel TCGA-D1-A1NU-01A-11D-A14G-09 TCGA-D1-A1NU-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 696376d3-d5d0-4023-8623-97f206138f7e 8ea99948-820a-45b7-ab96-484fbbc9952a NM_025150.3 +1 provisional p.C603 0.993 55 0% 71 33.8% - - - - - superfamily_Anticodon_bd,superfamily_SSF55681 RUSC1-AS1 284618 genome.wustl.edu 37 1 155290888 155290888 + Missense_Mutation SNP C C G novel TCGA-D1-A1NU-01A-11D-A14G-09 TCGA-D1-A1NU-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 696376d3-d5d0-4023-8623-97f206138f7e 8ea99948-820a-45b7-ab96-484fbbc9952a NM_001039517.1 -1 predicted p.S131T 0.235 54 0% 103 31.1% - - - - - NULL PRCC 5546 genome.wustl.edu 37 1 156756693 156756693 + Missense_Mutation SNP A A T novel TCGA-D1-A1NU-01A-11D-A14G-09 TCGA-D1-A1NU-10A-01D-A14G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 696376d3-d5d0-4023-8623-97f206138f7e 8ea99948-820a-45b7-ab96-484fbbc9952a NM_005973.4 +1 reviewed p.E270D 1.000 16 0% 31 25.8% - - probably_damaging(0.987) deleterious(0) deleterious(0.881) NULL PELI1 57162 genome.wustl.edu 37 2 64322229 64322229 + Silent SNP T T A novel TCGA-D1-A1NU-01A-11D-A14G-09 TCGA-D1-A1NU-10A-01D-A14G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 696376d3-d5d0-4023-8623-97f206138f7e 8ea99948-820a-45b7-ab96-484fbbc9952a NM_020651.3 -1 validated p.T288 0.999 32 0% 56 16.1% - - - - - HMMPfam_Pellino CNNM4 26504 genome.wustl.edu 37 2 97427705 97427705 + Silent SNP C C G novel TCGA-D1-A1NU-01A-11D-A14G-09 TCGA-D1-A1NU-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 696376d3-d5d0-4023-8623-97f206138f7e 8ea99948-820a-45b7-ab96-484fbbc9952a NM_020184.3 +1 reviewed p.L323 1.000 85 0% 114 51.8% - - - - - HMMPfam_DUF21 ATF2 1386 genome.wustl.edu 37 2 175994883 175994883 + Missense_Mutation SNP C C A novel TCGA-D1-A1NU-01A-11D-A14G-09 TCGA-D1-A1NU-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 696376d3-d5d0-4023-8623-97f206138f7e 8ea99948-820a-45b7-ab96-484fbbc9952a NM_001880.2 -1 reviewed p.A29S 1.000 39 2.6% 53 37.7% - - unknown(0) - - HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_C2H2 and C2HC zinc fingers TTC30A 92104 genome.wustl.edu 37 2 178481938 178481938 + Missense_Mutation SNP C C T novel TCGA-D1-A1NU-01A-11D-A14G-09 TCGA-D1-A1NU-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 696376d3-d5d0-4023-8623-97f206138f7e 8ea99948-820a-45b7-ab96-484fbbc9952a NM_152275.3 -1 validated p.A498T 1.000 140 0% 181 36.5% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_SSF48452 PDE11A 50940 genome.wustl.edu 37 2 178704998 178704998 + Missense_Mutation SNP C C T novel TCGA-D1-A1NU-01A-11D-A14G-09 TCGA-D1-A1NU-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 696376d3-d5d0-4023-8623-97f206138f7e 8ea99948-820a-45b7-ab96-484fbbc9952a NM_016953.3 -1 reviewed p.D494N 1.000 68 0% 93 38.7% - - possibly_damaging(0.861) tolerated(0.35) neutral(0.354) HMMPfam_GAF,HMMSmart_SM00065,superfamily_GAF domain-like TTN 7273 genome.wustl.edu 37 2 179483188 179483188 + Missense_Mutation SNP A A G novel TCGA-D1-A1NU-01A-11D-A14G-09 TCGA-D1-A1NU-10A-01D-A14G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 696376d3-d5d0-4023-8623-97f206138f7e 8ea99948-820a-45b7-ab96-484fbbc9952a ENST00000356127 -1 known p.V13098A 1.000 44 0% 59 47.5% - - benign(0.099) - - HMMPfam_fn3,HMMSmart_SM00060 CRYGC 1420 genome.wustl.edu 37 2 208994335 208994335 + Missense_Mutation SNP G G C novel TCGA-D1-A1NU-01A-11D-A14G-09 TCGA-D1-A1NU-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 696376d3-d5d0-4023-8623-97f206138f7e 8ea99948-820a-45b7-ab96-484fbbc9952a NM_020989.3 -1 reviewed p.P28A 0.828 35 0% 57 26.3% - - benign(0.001) tolerated(0.18) neutral(0.056) HMMPfam_Crystall,HMMSmart_SM00247,superfamily_gamma-Crystallin-like PDZRN3 23024 genome.wustl.edu 37 3 73432965 73432965 + Missense_Mutation SNP G G A novel TCGA-D1-A1NU-01A-11D-A14G-09 TCGA-D1-A1NU-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 696376d3-d5d0-4023-8623-97f206138f7e 8ea99948-820a-45b7-ab96-484fbbc9952a NM_015009.1 -1 provisional p.R918C 0.022 19 0% 23 47.8% - - probably_damaging(0.999) deleterious(0) deleterious(0.935) NULL POLQ 10721 genome.wustl.edu 37 3 121200578 121200578 + Missense_Mutation SNP G G T novel TCGA-D1-A1NU-01A-11D-A14G-09 TCGA-D1-A1NU-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 696376d3-d5d0-4023-8623-97f206138f7e 8ea99948-820a-45b7-ab96-484fbbc9952a NM_199420.3 -1 validated p.P2018T 0.597 35 0% 66 27.3% - - possibly_damaging(0.489) tolerated(0.27) neutral(0.196) superfamily_Ribonuclease H-like CCRL1 51554 genome.wustl.edu 37 3 132319275 132319275 + Missense_Mutation SNP T T C novel TCGA-D1-A1NU-01A-11D-A14G-09 TCGA-D1-A1NU-10A-01D-A14G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 696376d3-d5d0-4023-8623-97f206138f7e 8ea99948-820a-45b7-ab96-484fbbc9952a NM_016557.2 +1 reviewed p.Y12H 0.992 49 0% 67 35.8% - - benign(0.001) tolerated(0.51) neutral(0.009) superfamily_SSF81321 PIK3CA 5290 genome.wustl.edu 37 3 178921553 178921553 + Missense_Mutation SNP T T A rs121913284 TCGA-D1-A1NU-01A-11D-A14G-09 TCGA-D1-A1NU-10A-01D-A14G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 696376d3-d5d0-4023-8623-97f206138f7e 8ea99948-820a-45b7-ab96-484fbbc9952a NM_006218.2 +1 reviewed p.N345K 1.000 40 0% 66 65.2% - - probably_damaging(1) tolerated(0.23) deleterious(0.541) HMMSmart_C2,HMMSmart_PI3K_C2,superfamily_C2_CaLB CC2D2A 57545 genome.wustl.edu 37 4 15529273 15529273 + Silent SNP T T A novel TCGA-D1-A1NU-01A-11D-A14G-09 TCGA-D1-A1NU-10A-01D-A14G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 696376d3-d5d0-4023-8623-97f206138f7e 8ea99948-820a-45b7-ab96-484fbbc9952a NM_001080522.2 +1 reviewed p.T451 0.565 34 0% 94 24.5% - - - - - NULL LGI2 55203 genome.wustl.edu 37 4 25020787 25020787 + Splice_Site SNP A A C novel TCGA-D1-A1NU-01A-11D-A14G-09 TCGA-D1-A1NU-10A-01D-A14G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 696376d3-d5d0-4023-8623-97f206138f7e 8ea99948-820a-45b7-ab96-484fbbc9952a NM_018176.3 -1 validated e5+2 1.000 65 0% 172 25.6% - - - - - - SLC4A4 8671 genome.wustl.edu 37 4 72332230 72332230 + Missense_Mutation SNP C C G novel TCGA-D1-A1NU-01A-11D-A14G-09 TCGA-D1-A1NU-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 696376d3-d5d0-4023-8623-97f206138f7e 8ea99948-820a-45b7-ab96-484fbbc9952a NM_001134742.1 +1 reviewed p.L523V 1.000 138 0.7% 166 38.6% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_HCO3_cotransp MAB21L2 10586 genome.wustl.edu 37 4 151504984 151504984 + Missense_Mutation SNP C C T novel TCGA-D1-A1NU-01A-11D-A14G-09 TCGA-D1-A1NU-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 696376d3-d5d0-4023-8623-97f206138f7e 8ea99948-820a-45b7-ab96-484fbbc9952a NM_006439.4 +1 reviewed p.P268L 1.000 14 0% 18 94.4% - - benign(0.02) tolerated(0.2) neutral(0.050) HMMPfam_Mab-21 TRIO 7204 genome.wustl.edu 37 5 14498739 14498739 + Silent SNP G G A novel TCGA-D1-A1NU-01A-11D-A14G-09 TCGA-D1-A1NU-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 696376d3-d5d0-4023-8623-97f206138f7e 8ea99948-820a-45b7-ab96-484fbbc9952a NM_007118.2 +1 validated p.L2774 1.000 42 0% 71 36.6% - - - - - HMMSmart_SM00409,superfamily_Protein kinase-like (PK-like),HMMPfam_I-set,superfamily_Immunoglobulin HEATR7B2 133558 genome.wustl.edu 37 5 41047852 41047852 + Missense_Mutation SNP T T C novel TCGA-D1-A1NU-01A-11D-A14G-09 TCGA-D1-A1NU-10A-01D-A14G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 696376d3-d5d0-4023-8623-97f206138f7e 8ea99948-820a-45b7-ab96-484fbbc9952a NM_173489.4 -1 validated p.T567A 0.001 63 0% 133 22.6% - - benign(0) tolerated(0.61) neutral(0.004) superfamily_ARM repeat PCDHGB3 56102 genome.wustl.edu 37 5 140751474 140751474 + Missense_Mutation SNP G G A novel TCGA-D1-A1NU-01A-11D-A14G-09 TCGA-D1-A1NU-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 696376d3-d5d0-4023-8623-97f206138f7e 8ea99948-820a-45b7-ab96-484fbbc9952a NM_018924.2 +1 reviewed p.V505M 0.044 11 0.000 7 0.857 - - - - - HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like PCDHGB5 56101 genome.wustl.edu 37 5 140779056 140779059 + Frame_Shift_Del DEL AGTC AGTC - novel TCGA-D1-A1NU-01A-11D-A14G-09 TCGA-D1-A1NU-10A-01D-A14G-09 AGTC AGTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 696376d3-d5d0-4023-8623-97f206138f7e 8ea99948-820a-45b7-ab96-484fbbc9952a NM_018925.2 +1 reviewed p.S456fs 0.000:0.058:0.028:0.001 - - - - - - - - - HMMPfam_Cadherin,superfamily_Cadherin-like WWC1 23286 genome.wustl.edu 37 5 167857151 167857151 + Missense_Mutation SNP G G C novel TCGA-D1-A1NU-01A-11D-A14G-09 TCGA-D1-A1NU-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 696376d3-d5d0-4023-8623-97f206138f7e 8ea99948-820a-45b7-ab96-484fbbc9952a NM_015238.2 +1 reviewed p.E670D 0.998 29 0% 18 83.3% - - benign(0) tolerated(0.59) neutral(0.004) superfamily_C2 domain (Calcium/lipid-binding domain CaLB) ECI2 10455 genome.wustl.edu 37 6 4130615 4130615 + Missense_Mutation SNP T T C novel TCGA-D1-A1NU-01A-11D-A14G-09 TCGA-D1-A1NU-10A-01D-A14G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 696376d3-d5d0-4023-8623-97f206138f7e 8ea99948-820a-45b7-ab96-484fbbc9952a NM_006117.2 -1 validated p.I134M 0.000 128 0% 181 42% - - benign(0.003) deleterious(0.02) neutral(0.383) HMMPfam_ECH,superfamily_SSF52096 BACH2 60468 genome.wustl.edu 37 6 90660034 90660034 + Silent SNP C C T novel TCGA-D1-A1NU-01A-11D-A14G-09 TCGA-D1-A1NU-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 696376d3-d5d0-4023-8623-97f206138f7e 8ea99948-820a-45b7-ab96-484fbbc9952a NM_021813.2 -1 validated p.S597 0.885 31 0% 34 47.1% - - - - - NULL SYNE1 23345 genome.wustl.edu 37 6 152469439 152469439 + Missense_Mutation SNP G G C novel TCGA-D1-A1NU-01A-11D-A14G-09 TCGA-D1-A1NU-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 696376d3-d5d0-4023-8623-97f206138f7e 8ea99948-820a-45b7-ab96-484fbbc9952a NM_182961.2 -1 reviewed p.H8239Q 0.889 34 0% 59 37.3% - - benign(0) tolerated(0.36) neutral(0.020) NULL ENSG00000248675 0 genome.wustl.edu 37 7 10489596 10489605 + RNA DEL ATGGGAAGAT ATGGGAAGAT - rs36213657 byCluster;by1000genomes TCGA-D1-A1NU-01A-11D-A14G-09 TCGA-D1-A1NU-10A-01D-A14G-09 ATGGGAAGAT ATGGGAAGAT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 696376d3-d5d0-4023-8623-97f206138f7e 8ea99948-820a-45b7-ab96-484fbbc9952a ENST00000510654 -1 known NULL 0.029:0.037:0.043:0.047:0.048:0.048:0.046:0.042:0.044:0.044 - - - - - - - - - - IL6 3569 genome.wustl.edu 37 7 22767194 22767194 + Missense_Mutation SNP G G C novel TCGA-D1-A1NU-01A-11D-A14G-09 TCGA-D1-A1NU-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 696376d3-d5d0-4023-8623-97f206138f7e 8ea99948-820a-45b7-ab96-484fbbc9952a NM_000600.3 +1 reviewed p.E51Q 0.000 56 0% 78 23.1% - - possibly_damaging(0.686) tolerated(0.09) deleterious(0.541) superfamily_4-helical cytokines AKAP9 10142 genome.wustl.edu 37 7 91706193 91706193 + Missense_Mutation SNP G G C novel TCGA-D1-A1NU-01A-11D-A14G-09 TCGA-D1-A1NU-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 696376d3-d5d0-4023-8623-97f206138f7e 8ea99948-820a-45b7-ab96-484fbbc9952a NM_005751.4 +1 reviewed p.E2213Q 1.000 24 0% 35 28.6% - - probably_damaging(0.996) tolerated(0.05) deleterious(0.807) NULL MYOM2 9172 genome.wustl.edu 37 8 2000389 2000389 + Missense_Mutation SNP G G C novel TCGA-D1-A1NU-01A-11D-A14G-09 TCGA-D1-A1NU-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 696376d3-d5d0-4023-8623-97f206138f7e 8ea99948-820a-45b7-ab96-484fbbc9952a NM_003970.2 +1 validated p.R74P 0.248 41 0% 24 70.8% - - possibly_damaging(0.916) tolerated(0.1) deleterious(0.653) NULL HNF4G 3174 genome.wustl.edu 37 8 76456149 76456149 + Silent SNP C C T novel TCGA-D1-A1NU-01A-11D-A14G-09 TCGA-D1-A1NU-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 696376d3-d5d0-4023-8623-97f206138f7e 8ea99948-820a-45b7-ab96-484fbbc9952a NM_004133.4 +1 validated p.S64 0.173 66 0% 140 28.6% - - - - - HMMPfam_zf-C4,HMMSmart_ZnF_C4,PatternScan_NUCLEAR_REC_DBD_1,superfamily_SSF57716 MMP16 4325 genome.wustl.edu 37 8 89180156 89180156 + Missense_Mutation SNP C C A novel TCGA-D1-A1NU-01A-11D-A14G-09 TCGA-D1-A1NU-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 696376d3-d5d0-4023-8623-97f206138f7e 8ea99948-820a-45b7-ab96-484fbbc9952a NM_005941.4 -1 reviewed p.A151S 1.000 62 0% 118 22.9% - - probably_damaging(0.996) tolerated(0.1) deleterious(0.748) "HMMPfam_Peptidase_M10,HMMSmart_SM00235,superfamily_Metalloproteases (""zincins"") catalytic domain" COL22A1 169044 genome.wustl.edu 37 8 139890254 139890254 + Missense_Mutation SNP C C T novel TCGA-D1-A1NU-01A-11D-A14G-09 TCGA-D1-A1NU-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 696376d3-d5d0-4023-8623-97f206138f7e 8ea99948-820a-45b7-ab96-484fbbc9952a NM_152888.1 -1 validated p.A133T 0.319 6 0.000 5 0.800 - - unknown(0) tolerated(0.27) - HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like PTK2 5747 genome.wustl.edu 37 8 141889676 141889676 + Missense_Mutation SNP G G A novel TCGA-D1-A1NU-01A-11D-A14G-09 TCGA-D1-A1NU-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 696376d3-d5d0-4023-8623-97f206138f7e 8ea99948-820a-45b7-ab96-484fbbc9952a NM_005607.3 -1 reviewed p.R108C 1.000 61 0% 142 14.8% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMSmart_B41 DBH 1621 genome.wustl.edu 37 9 136508630 136508630 + Silent SNP C C T novel TCGA-D1-A1NU-01A-11D-A14G-09 TCGA-D1-A1NU-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 696376d3-d5d0-4023-8623-97f206138f7e 8ea99948-820a-45b7-ab96-484fbbc9952a NM_000787.3 +1 reviewed p.S280 0.974 16 0.000 7 0.571 - - - - - HMMPfam_Cu2_monooxygen,superfamily_PHM_PNGase_F FAM208B 54906 genome.wustl.edu 37 10 5789058 5789058 + Missense_Mutation SNP C C T novel TCGA-D1-A1NU-01A-11D-A14G-09 TCGA-D1-A1NU-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 696376d3-d5d0-4023-8623-97f206138f7e 8ea99948-820a-45b7-ab96-484fbbc9952a NM_017782.4 +1 validated p.S1225L 0.004 27 0% 37 56.8% - - benign(0.176) tolerated(0.12) neutral(0.277) NULL SVIL 6840 genome.wustl.edu 37 10 29779927 29779927 + Missense_Mutation SNP C C G novel TCGA-D1-A1NU-01A-11D-A14G-09 TCGA-D1-A1NU-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 696376d3-d5d0-4023-8623-97f206138f7e 8ea99948-820a-45b7-ab96-484fbbc9952a NM_021738.2 -1 reviewed p.E1347D 1.000 36 0% 33 24.2% - - probably_damaging(0.972) tolerated(0.05) deleterious(0.759) NULL PARD3 56288 genome.wustl.edu 37 10 34630560 34630560 + Silent SNP G G A novel TCGA-D1-A1NU-01A-11D-A14G-09 TCGA-D1-A1NU-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 696376d3-d5d0-4023-8623-97f206138f7e 8ea99948-820a-45b7-ab96-484fbbc9952a NM_019619.3 -1 validated p.A804 0.998 39 0% 57 43.9% - - - - - NULL JMJD1C 221037 genome.wustl.edu 37 10 64974235 64974235 + Silent SNP G G A novel TCGA-D1-A1NU-01A-11D-A14G-09 TCGA-D1-A1NU-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 696376d3-d5d0-4023-8623-97f206138f7e 8ea99948-820a-45b7-ab96-484fbbc9952a NM_032776.1 -1 validated p.S564 0.324 49 0% 54 61.1% - - - - - NULL EIF3A 8661 genome.wustl.edu 37 10 120810135 120810135 + Silent SNP A A G novel TCGA-D1-A1NU-01A-11D-A14G-09 TCGA-D1-A1NU-10A-01D-A14G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 696376d3-d5d0-4023-8623-97f206138f7e 8ea99948-820a-45b7-ab96-484fbbc9952a NM_003750.2 -1 validated p.L791 0.932 171 0% 214 41.1% - - - - - NULL CDHR5 53841 genome.wustl.edu 37 11 619503 619503 + Silent SNP G G A novel TCGA-D1-A1NU-01A-11D-A14G-09 TCGA-D1-A1NU-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 696376d3-d5d0-4023-8623-97f206138f7e 8ea99948-820a-45b7-ab96-484fbbc9952a NM_021924.4 -1 reviewed p.L422 0.005 37 0% 66 60.6% - - - - - superfamily_Cadherin-like OR5M9 390162 genome.wustl.edu 37 11 56230147 56230147 + Missense_Mutation SNP G G A novel TCGA-D1-A1NU-01A-11D-A14G-09 TCGA-D1-A1NU-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 696376d3-d5d0-4023-8623-97f206138f7e 8ea99948-820a-45b7-ab96-484fbbc9952a NM_001004743.1 -1 provisional p.T244M 0.085 36 0% 44 38.6% - - probably_damaging(1) tolerated(0.11) deleterious(0.772) HMMPfam_7tm_1,superfamily_SSF81321 C11orf84 144097 genome.wustl.edu 37 11 63586118 63586118 + Missense_Mutation SNP G G C novel TCGA-D1-A1NU-01A-11D-A14G-09 TCGA-D1-A1NU-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 696376d3-d5d0-4023-8623-97f206138f7e 8ea99948-820a-45b7-ab96-484fbbc9952a NM_138471.1 +1 predicted p.D243H 0.083 26 0% 45 28.9% - - possibly_damaging(0.937) deleterious(0) deleterious(0.828) NULL SF1 7536 genome.wustl.edu 37 11 64535304 64535304 + Missense_Mutation SNP T T A novel TCGA-D1-A1NU-01A-11D-A14G-09 TCGA-D1-A1NU-10A-01D-A14G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 696376d3-d5d0-4023-8623-97f206138f7e 8ea99948-820a-45b7-ab96-484fbbc9952a NM_004630.3 -1 reviewed p.T361S 0.996 19 0% 35 42.9% - - benign(0.05) tolerated(0.23) neutral(0.045) NULL KCNA6 3742 genome.wustl.edu 37 12 4920105 4920105 + Missense_Mutation SNP G G A novel TCGA-D1-A1NU-01A-11D-A14G-09 TCGA-D1-A1NU-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 696376d3-d5d0-4023-8623-97f206138f7e 8ea99948-820a-45b7-ab96-484fbbc9952a NM_002235.3 +1 reviewed p.D300N 1.000 42 0% 44 52.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Ion_trans,superfamily_SSF81324 PZP 5858 genome.wustl.edu 37 12 9315208 9315208 + Missense_Mutation SNP T T C novel TCGA-D1-A1NU-01A-11D-A14G-09 TCGA-D1-A1NU-10A-01D-A14G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 696376d3-d5d0-4023-8623-97f206138f7e 8ea99948-820a-45b7-ab96-484fbbc9952a NM_002864.2 -1 validated p.M925V 0.001 97 0% 110 13.6% - - benign(0) tolerated(0.05) neutral(0.345) NULL ERBB3 2065 genome.wustl.edu 37 12 56481922 56481922 + Missense_Mutation SNP G G A novel TCGA-D1-A1NU-01A-11D-A14G-09 TCGA-D1-A1NU-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 696376d3-d5d0-4023-8623-97f206138f7e 8ea99948-820a-45b7-ab96-484fbbc9952a NM_001982.2 +1 reviewed p.G284R 1.000 44 0% 69 44.9% - - probably_damaging(0.999) tolerated(0.19) deleterious(0.540) HMMPfam_Furin-like,superfamily_Growth factor receptor domain SHISA2 387914 genome.wustl.edu 37 13 26620919 26620919 + Missense_Mutation SNP C C A novel TCGA-D1-A1NU-01A-11D-A14G-09 TCGA-D1-A1NU-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 696376d3-d5d0-4023-8623-97f206138f7e 8ea99948-820a-45b7-ab96-484fbbc9952a NM_001007538.1 -1 provisional p.C207F 1.000 65 0% 66 53% - - probably_damaging(0.998) deleterious(0.04) deleterious(0.823) NULL SLC15A1 6564 genome.wustl.edu 37 13 99361825 99361825 + Splice_Site SNP C C T novel TCGA-D1-A1NU-01A-11D-A14G-09 TCGA-D1-A1NU-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 696376d3-d5d0-4023-8623-97f206138f7e 8ea99948-820a-45b7-ab96-484fbbc9952a NM_005073.3 -1 reviewed e14+1 1.000 54 0% 86 10.5% - - - - - - ADPRHL1 113622 genome.wustl.edu 37 13 114107655 114107655 + Missense_Mutation SNP A A G novel TCGA-D1-A1NU-01A-11D-A14G-09 TCGA-D1-A1NU-10A-01D-A14G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 696376d3-d5d0-4023-8623-97f206138f7e 8ea99948-820a-45b7-ab96-484fbbc9952a NM_138430.3 -1 validated p.I33T 1.000 30 0% 43 34.9% - - benign(0.001) deleterious(0) neutral(0.445) HMMPfam_ADP_ribosyl_GH,superfamily_ADP-ribosylglycohydrolase C14orf135 64430 genome.wustl.edu 37 14 60582515 60582515 + Missense_Mutation SNP G G A novel TCGA-D1-A1NU-01A-11D-A14G-09 TCGA-D1-A1NU-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 696376d3-d5d0-4023-8623-97f206138f7e 8ea99948-820a-45b7-ab96-484fbbc9952a NM_022495.5 +1 validated p.G245E 1.000 136 0% 146 50% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL RHOJ 57381 genome.wustl.edu 37 14 63735856 63735856 + Missense_Mutation SNP C C A novel TCGA-D1-A1NU-01A-11D-A14G-09 TCGA-D1-A1NU-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 696376d3-d5d0-4023-8623-97f206138f7e 8ea99948-820a-45b7-ab96-484fbbc9952a NM_020663.3 +1 provisional p.H69Q 0.980 55 0% 43 72.1% - - possibly_damaging(0.708) deleterious(0.01) deleterious(0.661) HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases IGHV4-61 28391 genome.wustl.edu 37 14 107095414 107095414 + Silent SNP C C T novel TCGA-D1-A1NU-01A-11D-A14G-09 TCGA-D1-A1NU-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 696376d3-d5d0-4023-8623-97f206138f7e 8ea99948-820a-45b7-ab96-484fbbc9952a ENST00000390630 -1 known p.Q22 1.000 97 0% 43 41.9% - - - - - HMMPfam_V-set,superfamily_SSF48726 DUOXA2 405753 genome.wustl.edu 37 15 45409492 45409492 + Missense_Mutation SNP C C A novel TCGA-D1-A1NU-01A-11D-A14G-09 TCGA-D1-A1NU-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 696376d3-d5d0-4023-8623-97f206138f7e 8ea99948-820a-45b7-ab96-484fbbc9952a NM_207581.3 +1 reviewed p.T253K 1.000 14 0.000 5 0.800 - - possibly_damaging(0.741) deleterious(0.04) deleterious(0.621) HMMPfam_DuoxA FBN1 2200 genome.wustl.edu 37 15 48755306 48755306 + Missense_Mutation SNP A A T novel TCGA-D1-A1NU-01A-11D-A14G-09 TCGA-D1-A1NU-10A-01D-A14G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 696376d3-d5d0-4023-8623-97f206138f7e 8ea99948-820a-45b7-ab96-484fbbc9952a NM_000138.4 -1 reviewed p.C1733S 1.000 46 0% 35 57.1% - - probably_damaging(0.999) deleterious(0.01) deleterious(0.896) HMMPfam_TB,superfamily_TB module/8-cys domain,superfamily_Concanavalin A-like lectins/glucanases PIGB 9488 genome.wustl.edu 37 15 55642980 55642980 + Missense_Mutation SNP A A T novel TCGA-D1-A1NU-01A-11D-A14G-09 TCGA-D1-A1NU-10A-01D-A14G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 696376d3-d5d0-4023-8623-97f206138f7e 8ea99948-820a-45b7-ab96-484fbbc9952a NM_004855.4 +1 reviewed p.T403S 1.000 71 0% 64 79.7% - - probably_damaging(0.979) deleterious(0.02) deleterious(0.805) HMMPfam_Glyco_transf_22 TCF12 6938 genome.wustl.edu 37 15 57543557 57543557 + Missense_Mutation SNP A A G novel TCGA-D1-A1NU-01A-11D-A14G-09 TCGA-D1-A1NU-10A-01D-A14G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 696376d3-d5d0-4023-8623-97f206138f7e 8ea99948-820a-45b7-ab96-484fbbc9952a NM_207036.1 +1 reviewed p.Q375R 1.000 54 0% 59 16.9% - - probably_damaging(0.991) tolerated(0.09) deleterious(0.740) NULL ZSCAN10 84891 genome.wustl.edu 37 16 3141575 3141575 + Silent SNP C C A novel TCGA-D1-A1NU-01A-11D-A14G-09 TCGA-D1-A1NU-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 696376d3-d5d0-4023-8623-97f206138f7e 8ea99948-820a-45b7-ab96-484fbbc9952a NM_032805.1 -1 provisional p.V196 0.005 26 0% 24 70.8% - - - - - NULL NLRC5 84166 genome.wustl.edu 37 16 57095843 57095846 + Frame_Shift_Del DEL AAAG AAAG - rs142124514 byCluster;by1000genomes TCGA-D1-A1NU-01A-11D-A14G-09 TCGA-D1-A1NU-10A-01D-A14G-09 AAAG AAAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 696376d3-d5d0-4023-8623-97f206138f7e 8ea99948-820a-45b7-ab96-484fbbc9952a ENST00000327982 +1 known p.K1096fs 0.005:0.002:0.000:0.000 - - - - - - - - - NULL CBFB 865 genome.wustl.edu 37 16 67100701 67100701 + Missense_Mutation SNP G G C novel TCGA-D1-A1NU-01A-11D-A14G-09 TCGA-D1-A1NU-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 696376d3-d5d0-4023-8623-97f206138f7e 8ea99948-820a-45b7-ab96-484fbbc9952a NM_022845.2 +1 reviewed p.Q133H 1.000 91 0% 66 72.7% - - possibly_damaging(0.457) tolerated(0.08) neutral(0.450) HMMPfam_CBF_beta,superfamily_CBF_beta SPG7 6687 genome.wustl.edu 37 16 89590168 89590169 + Frame_Shift_Ins INS - - ATCTC rs113476208 byCluster;by1000genomes TCGA-D1-A1NU-01A-11D-A14G-09 TCGA-D1-A1NU-10A-01D-A14G-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 696376d3-d5d0-4023-8623-97f206138f7e 8ea99948-820a-45b7-ab96-484fbbc9952a ENST00000312632 +1 known p.R23fs 0.007:0.005 - - - - - - - - - NULL FAM101B 359845 genome.wustl.edu 37 17 293184 293184 + Missense_Mutation SNP C C A novel TCGA-D1-A1NU-01A-11D-A14G-09 TCGA-D1-A1NU-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 696376d3-d5d0-4023-8623-97f206138f7e 8ea99948-820a-45b7-ab96-484fbbc9952a NM_182705.2 -1 validated p.V70L 0.998 32 0% 29 69% - - probably_damaging(0.996) deleterious(0.01) deleterious(0.867) NULL TNK1 8711 genome.wustl.edu 37 17 7288035 7288035 + Missense_Mutation SNP C C T novel TCGA-D1-A1NU-01A-11D-A14G-09 TCGA-D1-A1NU-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 696376d3-d5d0-4023-8623-97f206138f7e 8ea99948-820a-45b7-ab96-484fbbc9952a NM_003985.3 +1 validated p.R367W 1.000 11 0.000 6 1.000 - - probably_damaging(1) deleterious(0) deleterious(0.945) HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like TP53 7157 genome.wustl.edu 37 17 7578406 7578406 + Missense_Mutation SNP C C T novel TCGA-D1-A1NU-01A-11D-A14G-09 TCGA-D1-A1NU-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 696376d3-d5d0-4023-8623-97f206138f7e 8ea99948-820a-45b7-ab96-484fbbc9952a NM_000546.4 -1 reviewed p.R175H 1.000 25 0% 21 81% - - probably_damaging(1) deleterious(0) deleterious(0.945) superfamily_p53-like transcription factors,HMMPfam_P53 STH 246744 genome.wustl.edu 37 17 44076873 44076873 + Silent SNP T T C novel TCGA-D1-A1NU-01A-11D-A14G-09 TCGA-D1-A1NU-10A-01D-A14G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 696376d3-d5d0-4023-8623-97f206138f7e 8ea99948-820a-45b7-ab96-484fbbc9952a NM_001007532.2 +1 validated p.S76 0.000 45 0% 80 28.7% - - - - - NULL USP32 84669 genome.wustl.edu 37 17 58343369 58343369 + Missense_Mutation SNP C C A novel TCGA-D1-A1NU-01A-11D-A14G-09 TCGA-D1-A1NU-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 696376d3-d5d0-4023-8623-97f206138f7e 8ea99948-820a-45b7-ab96-484fbbc9952a NM_032582.3 -1 validated p.V299F 1.000 44 0% 65 44.6% - - benign(0.229) deleterious(0.01) neutral(0.429) superfamily_SSF47473 DDX42 11325 genome.wustl.edu 37 17 61883905 61883905 + Missense_Mutation SNP C C T novel TCGA-D1-A1NU-01A-11D-A14G-09 TCGA-D1-A1NU-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 696376d3-d5d0-4023-8623-97f206138f7e 8ea99948-820a-45b7-ab96-484fbbc9952a NM_007372.2 +1 reviewed p.A246V 1.000 48 0% 84 45.2% - - benign(0.015) tolerated(0.55) neutral(0.007) superfamily_P-loop containing nucleoside triphosphate hydrolases CLUL1 27098 genome.wustl.edu 37 18 624940 624940 + Missense_Mutation SNP G G C novel TCGA-D1-A1NU-01A-11D-A14G-09 TCGA-D1-A1NU-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 696376d3-d5d0-4023-8623-97f206138f7e 8ea99948-820a-45b7-ab96-484fbbc9952a NM_014410.4 +1 validated p.D111H 0.234 39 0% 67 38.8% - - possibly_damaging(0.806) tolerated(0.12) deleterious(0.564) HMMPfam_Clusterin,HMMSmart_CLb SAFB2 9667 genome.wustl.edu 37 19 5604916 5604916 + Missense_Mutation SNP C C T novel TCGA-D1-A1NU-01A-11D-A14G-09 TCGA-D1-A1NU-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 696376d3-d5d0-4023-8623-97f206138f7e 8ea99948-820a-45b7-ab96-484fbbc9952a NM_014649.2 -1 validated p.R443H 1.000 20 0% 30 76.7% - - possibly_damaging(0.925) deleterious(0) deleterious(0.818) HMMPfam_RRM_1,HMMSmart_RRM,superfamily_SSF54928 SMARCA4 6597 genome.wustl.edu 37 19 11105674 11105674 + Silent SNP C C G novel TCGA-D1-A1NU-01A-11D-A14G-09 TCGA-D1-A1NU-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 696376d3-d5d0-4023-8623-97f206138f7e 8ea99948-820a-45b7-ab96-484fbbc9952a NM_001128849.1 +1 reviewed p.L530 1.000 29 0% 35 42.9% - - - - - HMMPfam_HSA,HMMSmart_HSA,superfamily_SSF52540 MAST3 23031 genome.wustl.edu 37 19 18254804 18254804 + Silent SNP C C A novel TCGA-D1-A1NU-01A-11D-A14G-09 TCGA-D1-A1NU-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 696376d3-d5d0-4023-8623-97f206138f7e 8ea99948-820a-45b7-ab96-484fbbc9952a NM_015016.1 +1 validated p.P828 0.125 14 0% 22 27.3% - - - - - NULL ZNF529 57711 genome.wustl.edu 37 19 37038306 37038306 + Missense_Mutation SNP T T C novel TCGA-D1-A1NU-01A-11D-A14G-09 TCGA-D1-A1NU-10A-01D-A14G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 696376d3-d5d0-4023-8623-97f206138f7e 8ea99948-820a-45b7-ab96-484fbbc9952a NM_001145649.1 -1 validated p.Q385R 0.993 38 0% 44 18.2% - - possibly_damaging(0.809) tolerated(0.19) neutral(0.354) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers PLD3 23646 genome.wustl.edu 37 19 40873684 40873684 + Nonsense_Mutation SNP G G A novel TCGA-D1-A1NU-01A-11D-A14G-09 TCGA-D1-A1NU-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 696376d3-d5d0-4023-8623-97f206138f7e 8ea99948-820a-45b7-ab96-484fbbc9952a NM_001031696.2 +1 validated p.W109* 1.000 18 0% 26 50% - - - - - superfamily_SSF56024 PSG1 5669 genome.wustl.edu 37 19 43383712 43383712 + Missense_Mutation SNP G G C novel TCGA-D1-A1NU-01A-11D-A14G-09 TCGA-D1-A1NU-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 696376d3-d5d0-4023-8623-97f206138f7e 8ea99948-820a-45b7-ab96-484fbbc9952a NM_006905.2 -1 validated p.P8A 0.000 68 0% 114 38.6% - - possibly_damaging(0.604) tolerated(0.18) neutral(0.266) HMMPfam_V-set CRX 1406 genome.wustl.edu 37 19 48342969 48342969 + Missense_Mutation SNP C C A rs191794330 by1000genomes TCGA-D1-A1NU-01A-11D-A14G-09 TCGA-D1-A1NU-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 696376d3-d5d0-4023-8623-97f206138f7e 8ea99948-820a-45b7-ab96-484fbbc9952a NM_000554.4 +1 reviewed p.F215L 1.000 28 0% 44 15.9% - - benign(0.278) deleterious(0.03) neutral(0.394) NULL SIGLEC5 8778 genome.wustl.edu 37 19 52129335 52129335 + Nonsense_Mutation SNP T T A novel TCGA-D1-A1NU-01A-11D-A14G-09 TCGA-D1-A1NU-10A-01D-A14G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 696376d3-d5d0-4023-8623-97f206138f7e 8ea99948-820a-45b7-ab96-484fbbc9952a NM_003830.2 -1 validated p.R472* 0.001 73 0% 52 76.9% - - - - - NULL ZNFX1 57169 genome.wustl.edu 37 20 47887505 47887505 + Missense_Mutation SNP C C A novel TCGA-D1-A1NU-01A-11D-A14G-09 TCGA-D1-A1NU-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 696376d3-d5d0-4023-8623-97f206138f7e 8ea99948-820a-45b7-ab96-484fbbc9952a NM_021035.2 -1 validated p.A282S 1.000 56 0% 101 49.5% - - benign(0.056) tolerated(0.16) neutral(0.063) NULL SYCP2 10388 genome.wustl.edu 37 20 58450513 58450513 + Silent SNP G G A novel TCGA-D1-A1NU-01A-11D-A14G-09 TCGA-D1-A1NU-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 696376d3-d5d0-4023-8623-97f206138f7e 8ea99948-820a-45b7-ab96-484fbbc9952a NM_014258.2 -1 reviewed p.I1054 0.563 89 0% 106 40.6% - - - - - NULL TPTE 7179 genome.wustl.edu 37 21 10970032 10970032 + Silent SNP G G A novel TCGA-D1-A1NU-01A-11D-A14G-09 TCGA-D1-A1NU-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 696376d3-d5d0-4023-8623-97f206138f7e 8ea99948-820a-45b7-ab96-484fbbc9952a NM_199261.2 -1 validated p.T32 0.000 207 0% 277 20.2% - - - - - NULL SGSM1 129049 genome.wustl.edu 37 22 25280032 25280032 + Missense_Mutation SNP G G T novel TCGA-D1-A1NU-01A-11D-A14G-09 TCGA-D1-A1NU-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 696376d3-d5d0-4023-8623-97f206138f7e 8ea99948-820a-45b7-ab96-484fbbc9952a NM_001039948.2 +1 validated p.C558F 1.000 28 0% 104 76.9% - - probably_damaging(0.997) deleterious(0) deleterious(0.911) NULL ZNF41 7592 genome.wustl.edu 37 X 47307375 47307375 + Missense_Mutation SNP C C G novel TCGA-D1-A1NU-01A-11D-A14G-09 TCGA-D1-A1NU-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 696376d3-d5d0-4023-8623-97f206138f7e 8ea99948-820a-45b7-ab96-484fbbc9952a NM_007130.2 -1 reviewed p.Q598H 1.000 57 0% 90 44.4% - - probably_damaging(0.998) deleterious(0.01) deleterious(0.880) HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers GLOD5 392465 genome.wustl.edu 37 X 48631847 48631847 + Missense_Mutation SNP C C G novel TCGA-D1-A1NU-01A-11D-A14G-09 TCGA-D1-A1NU-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 696376d3-d5d0-4023-8623-97f206138f7e 8ea99948-820a-45b7-ab96-484fbbc9952a NM_001080489.2 +1 validated p.S157W 0.004 34 0% 59 20.3% - - probably_damaging(0.98) deleterious(0) deleterious(0.869) NULL HUWE1 10075 genome.wustl.edu 37 X 53627127 53627127 + Silent SNP G G A novel TCGA-D1-A1NU-01A-11D-A14G-09 TCGA-D1-A1NU-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 696376d3-d5d0-4023-8623-97f206138f7e 8ea99948-820a-45b7-ab96-484fbbc9952a ENST00000427052 -1 known p.H72Y 0.664 80 0% 100 58% - - - - - NULL FAM123B 139285 genome.wustl.edu 37 X 63412982 63412982 + Missense_Mutation SNP C C T novel TCGA-D1-A1NU-01A-11D-A14G-09 TCGA-D1-A1NU-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 696376d3-d5d0-4023-8623-97f206138f7e 8ea99948-820a-45b7-ab96-484fbbc9952a NM_152424.3 -1 reviewed p.G62D 1.000 120 0% 145 27.6% - - probably_damaging(1) deleterious(0.04) deleterious(0.849) NULL PDZD11 51248 genome.wustl.edu 37 X 69507630 69507630 + Missense_Mutation SNP T T G novel TCGA-D1-A1NU-01A-11D-A14G-09 TCGA-D1-A1NU-10A-01D-A14G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 696376d3-d5d0-4023-8623-97f206138f7e 8ea99948-820a-45b7-ab96-484fbbc9952a NM_016484.4 -1 validated p.Q93H 1.000 79 0% 98 41.8% - - probably_damaging(0.982) deleterious(0) deleterious(0.871) HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like TAF1 6872 genome.wustl.edu 37 X 70617204 70617204 + Missense_Mutation SNP C C T novel TCGA-D1-A1NU-01A-11D-A14G-09 TCGA-D1-A1NU-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 696376d3-d5d0-4023-8623-97f206138f7e 8ea99948-820a-45b7-ab96-484fbbc9952a NM_004606.3 +1 reviewed p.R1190C 1.000 75 0% 106 45.3% - - probably_damaging(1) deleterious(0) deleterious(0.945) NULL LOC392555 392555 genome.wustl.edu 37 X 141261778 141261778 + Missense_Mutation SNP C C T novel TCGA-D1-A1NU-01A-11D-A14G-09 TCGA-D1-A1NU-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 696376d3-d5d0-4023-8623-97f206138f7e 8ea99948-820a-45b7-ab96-484fbbc9952a XM_002343852.1 -1 model p.V77I 0.014 15 0% 20 55% - - - - - NULL SLITRK4 139065 genome.wustl.edu 37 X 142717469 142717476 + Frame_Shift_Del DEL TTAGGAGA TTAGGAGA - novel TCGA-D1-A1NU-01A-11D-A14G-09 TCGA-D1-A1NU-10A-01D-A14G-09 TTAGGAGA TTAGGAGA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 696376d3-d5d0-4023-8623-97f206138f7e 8ea99948-820a-45b7-ab96-484fbbc9952a NM_173078.3 -1 reviewed p.N483fs 1.000:0.999:0.998:0.663:0.654:0.996:1.000:1.000 - - - - - - - - - HMMPfam_LRR_1,HMMSmart_SM00369,superfamily_L domain-like SLITRK2 84631 genome.wustl.edu 37 X 144904949 144904949 + Missense_Mutation SNP G G T novel TCGA-D1-A1NU-01A-11D-A14G-09 TCGA-D1-A1NU-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 696376d3-d5d0-4023-8623-97f206138f7e 8ea99948-820a-45b7-ab96-484fbbc9952a NM_001144003.2 +1 reviewed p.V336L 1.000 36 0% 41 41.5% - - benign(0.002) tolerated(0.24) neutral(0.037) NULL GABRA3 2556 genome.wustl.edu 37 X 151532943 151532943 + Nonsense_Mutation SNP G G A novel TCGA-D1-A1NU-01A-11D-A14G-09 TCGA-D1-A1NU-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 696376d3-d5d0-4023-8623-97f206138f7e 8ea99948-820a-45b7-ab96-484fbbc9952a NM_000808.3 -1 reviewed p.R34* 1.000 93 0% 119 36.1% - - - - - NULL OPN1LW 5956 genome.wustl.edu 37 X 153416178 153416178 + Missense_Mutation SNP C C T novel TCGA-D1-A1NU-01A-11D-A14G-09 TCGA-D1-A1NU-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 696376d3-d5d0-4023-8623-97f206138f7e 8ea99948-820a-45b7-ab96-484fbbc9952a NM_020061.4 +1 reviewed p.L55F 0.973 66 0% 96 12.5% - - benign(0.002) deleterious(0.03) neutral(0.364) superfamily_SSF81321