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 chromosome_name start stop reference variant type gene_name transcript_name transcript_species transcript_source transcript_version strand transcript_status trv_type c_position amino_acid_change ucsc_cons domain all_domains deletion_substructures transcript_error NormalRefReads_WU NormalVarReads_WU NormalVAF_WU TumorRefReads_WU TumorVarReads_WU TumorVAF_WU RNARefReads_WU RNAVarReads_WU RNAVAF_WU MT-ND1 0 genome.wustl.edu 36 MT 3919 3919 + Silent SNP G G A TCGA-AB-3009-03A-01D-0739-09 TCGA-AB-3009-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc b77c4cc4-b7bb-45b7-8324-70f96f9a3629 MT 3919 3919 G A SNP MT-ND1 ENST00000361390 human ensembl 54_36p +1 known silent c.612 p.E204 NULL HMMPfam_NADHdh,PatternScan_COMPLEX1_ND1_2 HMMPfam_NADHdh,PatternScan_COMPLEX1_ND1_1,PatternScan_COMPLEX1_ND1_2 - no_errors 246 1 0.404858299595142 477 111 18.8775510204082 NA NA NA PHF6 0 genome.wustl.edu 36 X 133378890 133378890 + Missense_Mutation SNP G G T TCGA-AB-3009-03A-01D-0739-09 TCGA-AB-3009-11A-01D-0739-09 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc b77c4cc4-b7bb-45b7-8324-70f96f9a3629 X 133378890 133378890 G T SNP PHF6 NM_001015877.1 human genbank 54_36p +1 reviewed missense c.860 p.G287V 1.000 HMMSmart_SM00249,superfamily_FYVE/PHD zinc finger HMMSmart_SM00249,superfamily_FYVE/PHD zinc finger - no_errors 449 15 3.23275862068966 22 316 93.491124260355 0 37 100.00 SV2A 0 genome.wustl.edu 36 1 148144145 148144145 + Silent SNP G G A TCGA-AB-3009-03A-01D-0739-09 TCGA-AB-3009-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc b77c4cc4-b7bb-45b7-8324-70f96f9a3629 1 148144145 148144145 G A SNP SV2A NM_014849.3 human genbank 54_36p -1 validated silent c.1956 p.I652 0.996 HMMPfam_MFS_1,superfamily_MFS general substrate transporter PatternScan_SUGAR_TRANSPORT_2,HMMPfam_MFS_1,superfamily_MFS general substrate transporter - no_errors 4665 53 1.12 849 772 47.62 46 77 62.60 NMNAT2 0 genome.wustl.edu 36 1 181488479 181488479 + Missense_Mutation SNP C C T TCGA-AB-3009-03A-01D-0739-09 TCGA-AB-3009-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc b77c4cc4-b7bb-45b7-8324-70f96f9a3629 1 181488479 181488479 C T SNP NMNAT2 NM_015039.2 human genbank 54_36p -1 reviewed missense c.844 p.G282S 0.996 superfamily_Nucleotidylyl transferase HMMPfam_CTP_transf_2,superfamily_Nucleotidylyl transferase - no_errors 1606 7 0.43 741 577 43.78 NA NA NA KCNT2 0 genome.wustl.edu 36 1 194464035 194464035 + Missense_Mutation SNP C C T TCGA-AB-3009-03A-01D-0739-09 TCGA-AB-3009-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc b77c4cc4-b7bb-45b7-8324-70f96f9a3629 1 194464035 194464035 C T SNP KCNT2 NM_198503.2 human genbank 54_36p -1 validated missense c.3350 p.R1117Q 0.822 NULL HMMPfam_BK_channel_a,HMMPfam_Ion_trans_2,superfamily_NAD(P)-binding Rossmann-fold domains,superfamily_Voltage-gated potassium channels - no_errors 610 8 1.29449838187702 255 220 46.3157894736842 NA NA NA NAV1 0 genome.wustl.edu 36 1 199884746 199884746 + Silent SNP C C T TCGA-AB-3009-03A-01D-0739-09 TCGA-AB-3009-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc b77c4cc4-b7bb-45b7-8324-70f96f9a3629 1 199884746 199884746 C T SNP NAV1 NM_020443.3 human genbank 54_36p +1 reviewed silent c.327 p.P109 0.689 NULL HMMSmart_AAA,PatternScan_PPASE,superfamily_SSF52540 - no_errors 790 13 1.61892901618929 347 265 43.3006535947712 1 2 66.67 ABCB11 0 genome.wustl.edu 36 2 169488496 169488496 + Missense_Mutation SNP G G A TCGA-AB-3009-03A-01D-0739-09 TCGA-AB-3009-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc b77c4cc4-b7bb-45b7-8324-70f96f9a3629 2 169488496 169488496 G A SNP ABCB11 NM_003742.2 human genbank 54_36p -1 reviewed missense c.3848 p.A1283V 0.982 HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases HMMPfam_ABC_membrane,HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain,PatternScan_ABC_TRANSPORTER_1,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors 813 10 1.21506682867558 324 287 46.9721767594108 NA NA NA BRPF1 0 genome.wustl.edu 36 3 9761731 9761731 + Missense_Mutation SNP T T C TCGA-AB-3009-03A-01D-0739-09 TCGA-AB-3009-11A-01D-0739-09 T T T C T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc b77c4cc4-b7bb-45b7-8324-70f96f9a3629 3 9761731 9761731 T C SNP BRPF1 NM_001003694.1 human genbank 54_36p +1 reviewed missense c.2960 p.V987A 1.000 NULL HMMPfam_PWWP,HMMSmart_PWWP,HMMPfam_Bromodomain,HMMSmart_BROMO,superfamily_Bromodomain,HMMSmart_PHD,PatternScan_ZINC_FINGER_C2H2_1,superfamily_FYVE_PHD_ZnF,HMMSmart_ZnF_C2H2,HMMPfam_EPL1,PatternScan_ZF_PHD_1,HMMPfam_PHD,superfamily_SSF63748 - no_errors 1044 2 0.19 291 203 40.85 32 30 48.39 GNAI2 0 genome.wustl.edu 36 3 50268699 50268699 + Missense_Mutation SNP G G A rs137853227 TCGA-AB-3009-03A-01D-0739-09 TCGA-AB-3009-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc b77c4cc4-b7bb-45b7-8324-70f96f9a3629 3 50268699 50268699 G A SNP GNAI2 NM_002070.2 human genbank 54_36p +1 validated missense c.536 p.R179H 0.998 HMMPfam_G-alpha,superfamily_Transducin (alpha subunit) insertion domain,HMMSmart_SM00275,superfamily_P-loop containing nucleoside triphosphate hydrolases HMMPfam_G-alpha,superfamily_Transducin (alpha subunit) insertion domain,HMMSmart_SM00275,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors 621 2 0.321027287319422 310 94 23.2673267326733 510 213 29.46 LOC253820 0 genome.wustl.edu 36 3 170003465 170003465 + Silent SNP C C T TCGA-AB-3009-03A-01D-0739-09 TCGA-AB-3009-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc b77c4cc4-b7bb-45b7-8324-70f96f9a3629 3 170003465 170003465 C T SNP LOC253820 XM_001726233.1 human genbank 54_36p +1 model silent c.324 p.P108 0.015 HMMSmart_SM00181,superfamily_EGF/Laminin PatternScan_ASX_HYDROXYL,HMMSmart_SM00179,HMMSmart_SM00181,PatternScan_EGF_2,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_EGF/Laminin - no_errors 899 6 0.662983425414365 642 125 16.2972620599739 0 0 0.00 DAXX 0 genome.wustl.edu 36 6 33396275 33396275 + Missense_Mutation SNP G G A TCGA-AB-3009-03A-01D-0739-09 TCGA-AB-3009-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc b77c4cc4-b7bb-45b7-8324-70f96f9a3629 6 33396275 33396275 G A SNP DAXX NM_001350.1 human genbank 54_36p -1 reviewed missense c.1111 p.R371W 1.000 HMMPfam_Daxx HMMPfam_Daxx - no_errors 1578 27 1.68 303 199 39.64 19 24 55.81 DAAM2 0 genome.wustl.edu 36 6 39977212 39977212 + Missense_Mutation SNP C C T TCGA-AB-3009-03A-01D-0739-09 TCGA-AB-3009-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc b77c4cc4-b7bb-45b7-8324-70f96f9a3629 6 39977212 39977212 C T SNP DAAM2 NM_015345.2 human genbank 54_36p +1 validated missense c.2965 p.R989C 1.000 HMMSmart_SM00498 HMMSmart_SM00498,HMMPfam_Drf_FH3,HMMPfam_Drf_GBD,HMMPfam_FH2,superfamily_Formin homology 2 domain (FH2 domain) - no_errors 709 11 1.51 235 214 47.03 NA NA NA TMEM151B 0 genome.wustl.edu 36 6 44351654 44351654 + Silent SNP G G A TCGA-AB-3009-03A-01D-0739-09 TCGA-AB-3009-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc b77c4cc4-b7bb-45b7-8324-70f96f9a3629 6 44351654 44351654 G A SNP TMEM151B ENST00000388811 human ensembl 54_36p +1 known silent c.1113 p.T371 0.977 NULL NULL - no_errors 292 1 0.34 116 103 47.03 NA NA NA COL12A1 0 genome.wustl.edu 36 6 75917701 75917701 + Silent SNP G G A TCGA-AB-3009-03A-01D-0739-09 TCGA-AB-3009-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc b77c4cc4-b7bb-45b7-8324-70f96f9a3629 6 75917701 75917701 G A SNP COL12A1 NM_004370.5 human genbank 54_36p -1 reviewed silent c.4023 p.V1341 0.459 HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like HMMPfam_VWA,HMMSmart_SM00327,HMMSmart_SM00210,HMMPfam_fn3,HMMSmart_SM00060,HMMPfam_Collagen,superfamily_Fibronectin type III,superfamily_Concanavalin A-like lectins/glucanases,superfamily_vWA-like - no_errors 628 3 0.475435816164818 210 133 38.7755102040816 1 0 0.00 LOC643962 0 genome.wustl.edu 36 6 87597030 87597030 + RNA SNP G G A TCGA-AB-3009-03A-01D-0739-09 TCGA-AB-3009-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc b77c4cc4-b7bb-45b7-8324-70f96f9a3629 6 87597030 87597030 G A SNP LOC643962 XR_041993.1 human genbank 54_36p -1 model rna NULL NULL 0.002 - - - no_errors 251 3 1.18110236220472 52 44 45.8333333333333 NA NA NA GABRR1 0 genome.wustl.edu 36 6 89948418 89948418 + Missense_Mutation SNP C C T TCGA-AB-3009-03A-01D-0739-09 TCGA-AB-3009-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc b77c4cc4-b7bb-45b7-8324-70f96f9a3629 6 89948418 89948418 C T SNP GABRR1 NM_002042.3 human genbank 54_36p -1 reviewed missense c.856 p.A286T 1.000 HMMPfam_Neur_chan_memb,superfamily_Neurotransmitter-gated ion-channel transmembrane pore HMMPfam_Neur_chan_memb,superfamily_Neurotransmitter-gated ion-channel transmembrane pore,HMMPfam_Neur_chan_LBD,superfamily_Nicotinic receptor ligand binding domain-like,PatternScan_NEUROTR_ION_CHANNEL - no_errors 919 14 1.50 370 316 46.06 0 1 100.00 GPRC6A 0 genome.wustl.edu 36 6 117234348 117234348 + Missense_Mutation SNP C C A TCGA-AB-3009-03A-01D-0739-09 TCGA-AB-3009-11A-01D-0739-09 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc b77c4cc4-b7bb-45b7-8324-70f96f9a3629 6 117234348 117234348 C A SNP GPRC6A NM_148963.2 human genbank 54_36p -1 validated missense c.1213 p.D405Y 0.004 HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like I HMMPfam_ANF_receptor,HMMPfam_NCD3G,HMMPfam_7tm_3,PatternScan_G_PROTEIN_RECEP_F3_2,superfamily_Periplasmic binding protein-like I - no_errors 999 12 1.19 493 434 46.82 NA NA NA NCOA7 0 genome.wustl.edu 36 6 126252643 126252643 + Missense_Mutation SNP A A G TCGA-AB-3009-03A-01D-0739-09 TCGA-AB-3009-11A-01D-0739-09 A A A G A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc b77c4cc4-b7bb-45b7-8324-70f96f9a3629 6 126252643 126252643 A G SNP NCOA7 NM_181782.1 human genbank 54_36p +1 validated missense c.1750 p.K584E 0.014 NULL HMMSmart_SM00257,HMMPfam_GRAM,HMMPfam_TLD,HMMSmart_SM00584,HMMPfam_LysM,superfamily_LysM domain - no_errors 656 12 1.79640718562874 222 190 46.1165048543689 11 7 38.89 FZD1 0 genome.wustl.edu 36 7 90733681 90733681 + Missense_Mutation SNP G G A TCGA-AB-3009-03A-01D-0739-09 TCGA-AB-3009-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc b77c4cc4-b7bb-45b7-8324-70f96f9a3629 7 90733681 90733681 G A SNP FZD1 NM_003505.1 human genbank 54_36p +1 reviewed missense c.1550 p.R517H 1.000 HMMPfam_Frizzled superfamily_Frizzled cysteine-rich domain,HMMPfam_Frizzled,HMMPfam_Fz,HMMSmart_SM00063 - no_errors 576 8 1.36986301369863 242 201 45.372460496614 7 6 46.15 TSPYL5 0 genome.wustl.edu 36 8 98358079 98358079 + Missense_Mutation SNP C C A TCGA-AB-3009-03A-01D-0739-09 TCGA-AB-3009-11A-01D-0739-09 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc b77c4cc4-b7bb-45b7-8324-70f96f9a3629 8 98358079 98358079 C A SNP TSPYL5 NM_033512.2 human genbank 54_36p -1 validated missense c.1170 p.E390D 0.998 HMMPfam_NAP HMMPfam_NAP - no_errors 1485 11 0.74 406 347 46.08 NA NA NA VPS13B 0 genome.wustl.edu 36 8 100274306 100274306 + Missense_Mutation SNP C C A TCGA-AB-3009-03A-01D-0739-09 TCGA-AB-3009-11A-01D-0739-09 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc b77c4cc4-b7bb-45b7-8324-70f96f9a3629 8 100274306 100274306 C A SNP VPS13B NM_017890.2 human genbank 54_36p +1 reviewed missense c.2360 p.T787N 1.000 NULL PatternScan_ZINC_PROTEASE - no_errors 937 8 0.85 629 458 42.10 26 18 40.91 TM7SF4 0 genome.wustl.edu 36 8 105436497 105436497 + Missense_Mutation SNP C C T TCGA-AB-3009-03A-01D-0739-09 TCGA-AB-3009-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc b77c4cc4-b7bb-45b7-8324-70f96f9a3629 8 105436497 105436497 C T SNP TM7SF4 NM_030788.2 human genbank 54_36p +1 reviewed missense c.1246 p.R416C 0.698 HMMPfam_DC_STAMP HMMPfam_DC_STAMP - no_errors 1265 5 0.39 294 284 49.05 NA NA NA BAI1 0 genome.wustl.edu 36 8 143622650 143622650 + Missense_Mutation SNP C C T TCGA-AB-3009-03A-01D-0739-09 TCGA-AB-3009-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc b77c4cc4-b7bb-45b7-8324-70f96f9a3629 8 143622650 143622650 C T SNP BAI1 NM_001702.2 human genbank 54_36p +1 reviewed missense c.4625 p.T1542M 0.068 NULL HMMPfam_GPS,HMMSmart_SM00303,HMMPfam_7tm_2,HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat,HMMPfam_HRM,HMMSmart_SM00008 - no_errors 448 4 0.884955752212389 160 178 52.6627218934911 3 4 57.14 ARC 0 genome.wustl.edu 36 8 143691876 143691876 + Missense_Mutation SNP C C G TCGA-AB-3009-03A-01D-0739-09 TCGA-AB-3009-11A-01D-0739-09 C C C G C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc b77c4cc4-b7bb-45b7-8324-70f96f9a3629 8 143691876 143691876 C G SNP ARC NM_015193.3 human genbank 54_36p -1 validated missense c.759 p.W253C 1.000 NULL NULL - no_errors 577 14 2.36886632825719 304 229 42.9643527204503 0 2 100.00 TONSL 0 genome.wustl.edu 36 8 145639466 145639466 + Missense_Mutation SNP G G A TCGA-AB-3009-03A-01D-0739-09 TCGA-AB-3009-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc b77c4cc4-b7bb-45b7-8324-70f96f9a3629 8 145639466 145639466 G A SNP NFKBIL2 ENST00000409379 human ensembl 54_36p -1 known missense c.311 p.T104M 0.004 superfamily_TPR-like HMMPfam_TPR_1,HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat,HMMSmart_SM00368,HMMSmart_SM00028,superfamily_TPR-like,superfamily_RNI-like - no_errors 588 9 1.50753768844221 301 238 44.1558441558442 19 16 45.71 LOC727878 0 genome.wustl.edu 36 10 2534120 2534120 + Missense_Mutation SNP C C T TCGA-AB-3009-03A-01D-0739-09 TCGA-AB-3009-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc b77c4cc4-b7bb-45b7-8324-70f96f9a3629 10 2534120 2534120 C T SNP LOC727878 XM_001126639.1 human genbank 54_36p -1 model missense c.20 p.R7Q 0.000 NULL NULL - no_errors 1506 9 0.59 554 180 24.42 NA NA NA ANK3 0 genome.wustl.edu 36 10 61596587 61596587 + Splice_Site SNP C C A TCGA-AB-3009-03A-01D-0739-09 TCGA-AB-3009-11A-01D-0739-09 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc b77c4cc4-b7bb-45b7-8324-70f96f9a3629 10 61596587 61596587 C A SNP ANK3 NM_020987.2 human genbank 54_36p -1 reviewed splice_site c.2551+1 e22+1 1.000 - - - no_errors 1153 16 1.36869118905047 429 337 43.9947780678851 0 1 100.00 MYEOV 0 genome.wustl.edu 36 11 68820412 68820412 + Missense_Mutation SNP C C A TCGA-AB-3009-03A-01D-0739-09 TCGA-AB-3009-11A-01D-0739-09 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc b77c4cc4-b7bb-45b7-8324-70f96f9a3629 11 68820412 68820412 C A SNP MYEOV NM_138768.2 human genbank 54_36p +1 validated missense c.919 p.L307I 0.000 NULL NULL - no_errors 1287 18 1.38 130 130 50.00 NA NA NA EED 0 genome.wustl.edu 36 11 85646239 85646239 + Missense_Mutation SNP T T A TCGA-AB-3009-03A-01D-0739-09 TCGA-AB-3009-11A-01D-0739-09 T T T A T T Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc b77c4cc4-b7bb-45b7-8324-70f96f9a3629 11 85646239 85646239 T A SNP EED NM_003797.2 human genbank 54_36p +1 reviewed missense c.587 p.L196Q 1.000 HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 HMMSmart_SM00320,superfamily_WD40 repeat-like,PatternScan_WD_REPEATS_1,HMMPfam_WD40 - no_errors 662 2 0.30 235 210 47.19 37 31 45.59 ASIC1 0 genome.wustl.edu 36 12 48739047 48739047 + Silent SNP C C G TCGA-AB-3009-03A-01D-0739-09 TCGA-AB-3009-11A-01D-0739-09 C C C G C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc b77c4cc4-b7bb-45b7-8324-70f96f9a3629 12 48739047 48739047 C G SNP ACCN2 NM_020039.2 human genbank 54_36p +1 reviewed silent c.231 p.L77 1.000 HMMPfam_ASC HMMPfam_ASC,PatternScan_ASC - no_errors 1572 10 0.63 355 329 48.10 7 2 22.22 ACSS3 0 genome.wustl.edu 36 12 80061033 80061033 + Missense_Mutation SNP C C T TCGA-AB-3009-03A-01D-0739-09 TCGA-AB-3009-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc b77c4cc4-b7bb-45b7-8324-70f96f9a3629 12 80061033 80061033 C T SNP ACSS3 NM_024560.2 human genbank 54_36p +1 validated missense c.797 p.A266V 0.000 HMMPfam_AMP-binding,superfamily_Acetyl-CoA synthetase-like HMMPfam_AMP-binding,PatternScan_AMP_BINDING,superfamily_Acetyl-CoA synthetase-like - no_errors 533 1 0.187265917602996 256 230 47.3251028806584 NA NA NA AP1G2 0 genome.wustl.edu 36 14 23103149 23103149 + Missense_Mutation SNP C C T TCGA-AB-3009-03A-01D-0739-09 TCGA-AB-3009-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc b77c4cc4-b7bb-45b7-8324-70f96f9a3629 14 23103149 23103149 C T SNP AP1G2 NM_003917.2 human genbank 54_36p -1 reviewed missense c.1037 p.R346Q 1.000 HMMPfam_Adaptin_N,superfamily_ARM-type_fold HMMPfam_Adaptin_N,HMMPfam_Alpha_adaptinC2,HMMSmart_Alpha_adaptinC2,superfamily_Clath_adapt,superfamily_ARM-type_fold - no_errors 2568 35 1.34 670 596 47.08 66 74 52.86 LOC100130041 0 genome.wustl.edu 36 16 34581303 34581303 + RNA SNP C C A TCGA-AB-3009-03A-01D-0739-09 TCGA-AB-3009-11A-01D-0739-09 C C C A C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc b77c4cc4-b7bb-45b7-8324-70f96f9a3629 16 34581303 34581303 C A SNP LOC100130041 XR_037947.1 human genbank 54_36p +1 model rna NULL NULL 1.000 - - - pseudogene 1486 9 0.602006688963211 723 230 24.1343126967471 NA NA NA CTCF 0 genome.wustl.edu 36 16 66217970 66217970 + Nonsense_Mutation SNP C C T TCGA-AB-3009-03A-01D-0739-09 TCGA-AB-3009-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc b77c4cc4-b7bb-45b7-8324-70f96f9a3629 16 66217970 66217970 C T SNP CTCF NM_006565.2 human genbank 54_36p +1 reviewed nonsense c.1369 p.R457* 1.000 HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers - no_errors 1876 12 0.64 242 190 43.88 68 15 18.07 LOC100130734 0 genome.wustl.edu 36 17 17227878 17227878 + Missense_Mutation SNP G G A TCGA-AB-3009-03A-01D-0739-09 TCGA-AB-3009-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc b77c4cc4-b7bb-45b7-8324-70f96f9a3629 17 17227878 17227878 G A SNP LOC100130734 XM_001716348.1 human genbank 54_36p +1 model missense c.1078 p.D360N 0.028 NULL NULL - no_errors 163 2 1.21212121212121 63 76 54.6762589928058 1231 0 0.00 NF1 0 genome.wustl.edu 36 17 26587107 26587107 + Nonsense_Mutation SNP C C T TCGA-AB-3009-03A-01D-0739-09 TCGA-AB-3009-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc b77c4cc4-b7bb-45b7-8324-70f96f9a3629 17 26587107 26587107 C T SNP NF1 NM_001042492.2 human genbank 54_36p +1 reviewed nonsense c.3916 p.R1306* 1.000 HMMPfam_RasGAP,HMMSmart_SM00323,superfamily_GTPase activation domain GAP HMMSmart_SM00516,HMMPfam_RasGAP,HMMSmart_SM00323,PatternScan_RAS_GTPASE_ACTIV_1,superfamily_GTPase activation domain GAP - no_errors 769 5 0.64 43 229 84.19 1 16 94.12 SUZ12 0 genome.wustl.edu 36 17 27317311 27317311 + Missense_Mutation SNP G G A TCGA-AB-3009-03A-01D-0739-09 TCGA-AB-3009-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc b77c4cc4-b7bb-45b7-8324-70f96f9a3629 17 27317311 27317311 G A SNP SUZ12 NM_015355.2 human genbank 54_36p +1 reviewed missense c.488 p.G163D 1.000 NULL PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,HMMPfam_VEFS-Box - no_errors 389 7 1.76767676767677 10 86 89.5833333333333 4 54 93.10 KANSL1 0 genome.wustl.edu 36 17 41464770 41464770 + Silent SNP C C T TCGA-AB-3009-03A-01D-0739-09 TCGA-AB-3009-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc b77c4cc4-b7bb-45b7-8324-70f96f9a3629 17 41464770 41464770 C T SNP KIAA1267 NM_015443.2 human genbank 54_36p -1 validated silent c.3237 p.A1079 0.003 NULL NULL - no_errors 1127 12 1.05 296 296 49.83 25 36 59.02 LOC100132903 0 genome.wustl.edu 36 17 44156725 44156725 + Missense_Mutation SNP G G T TCGA-AB-3009-03A-01D-0739-09 TCGA-AB-3009-11A-01D-0739-09 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc b77c4cc4-b7bb-45b7-8324-70f96f9a3629 17 44156725 44156725 G T SNP LOC100132903 XM_001726558.1 human genbank 54_36p +1 model missense c.104 p.G35V 0.000 NULL NULL - no_errors 608 2 0.33 151 135 47.20 NA NA NA CILP2 0 genome.wustl.edu 36 19 19511501 19511501 + Silent SNP C C T TCGA-AB-3009-03A-01D-0739-09 TCGA-AB-3009-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc b77c4cc4-b7bb-45b7-8324-70f96f9a3629 19 19511501 19511501 C T SNP CILP2 NM_153221.2 human genbank 54_36p +1 validated silent c.78 p.T26 0.003 NULL HMMPfam_TSP_1,HMMSmart_TSP1,superfamily_TSP1,HMMSmart_IGc2,superfamily_CarboxypepD_reg,HMMPfam_I-set,superfamily_SSF48726 - no_errors 434 13 2.9082774049217 211 153 42.032967032967 NA NA NA FFAR1 0 genome.wustl.edu 36 19 40534990 40534990 + Silent SNP G G A TCGA-AB-3009-03A-01D-0739-09 TCGA-AB-3009-11A-01D-0739-09 G G G A G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc b77c4cc4-b7bb-45b7-8324-70f96f9a3629 19 40534990 40534990 G A SNP FFAR1 NM_005303.1 human genbank 54_36p +1 provisional silent c.696 p.T232 0.663 HMMPfam_7tm_1,superfamily_SSF81321 HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321 - no_errors 328 3 0.906344410876133 167 148 46.984126984127 NA NA NA SHANK1 0 genome.wustl.edu 36 19 55857216 55857216 + Missense_Mutation SNP C C T TCGA-AB-3009-03A-01D-0739-09 TCGA-AB-3009-11A-01D-0739-09 C C C T C C Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc b77c4cc4-b7bb-45b7-8324-70f96f9a3629 19 55857216 55857216 C T SNP SHANK1 NM_016148.2 human genbank 54_36p -1 validated missense c.6304 p.D2102N 1.000 HMMPfam_SAM_1,HMMSmart_SM00454,superfamily_SAM/Pointed domain HMMSmart_SM00326,superfamily_SH3-domain,HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like,HMMPfam_SAM_1,HMMSmart_SM00454,HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat,superfamily_SAM/Pointed domain,HMMPfam_SH3_2 - no_errors 1108 1 0.09 265 199 42.89 6 5 45.45 ZNF677 0 genome.wustl.edu 36 19 58432183 58432183 + Missense_Mutation SNP G G T TCGA-AB-3009-03A-01D-0739-09 TCGA-AB-3009-11A-01D-0739-09 G G G T G G Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc b77c4cc4-b7bb-45b7-8324-70f96f9a3629 19 58432183 58432183 G T SNP ZNF677 NM_182609.2 human genbank 54_36p -1 provisional missense c.1609 p.H537N 0.931 HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667 - no_errors 555 5 0.892857142857143 223 150 40.2144772117962 0 1 100.00 GDF5 0 genome.wustl.edu 36 20 33485469 33485469 + Silent SNP A A T TCGA-AB-3009-03A-01D-0739-09 TCGA-AB-3009-11A-01D-0739-09 A A A T A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc b77c4cc4-b7bb-45b7-8324-70f96f9a3629 20 33485469 33485469 A T SNP GDF5 NM_000557.2 human genbank 54_36p -1 reviewed silent c.1158 p.T386 0.507 NULL HMMPfam_TGFb_propeptide,HMMPfam_TGF_beta,HMMSmart_TGFB,PatternScan_TGF_BETA_1,superfamily_SSF57501 - no_errors 256 4 1.53846153846154 114 86 43 0 0 0.00 TTN 0 genome.wustl.edu 36 2 179181002 179181003 + In_Frame_Ins INS - - GAC TCGA-AB-3009-03A-01D-0739-09 TCGA-AB-3009-11A-01D-0739-09 - - - GAC - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc b77c4cc4-b7bb-45b7-8324-70f96f9a3629 2 179181002 179181003 - GAC INS TTN ENST00000375038 human ensembl 54_36p -1 known in_frame_ins c.40703_40702 p.I13568in_frame_insSL 1.000:1.000 HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,superfamily_Concanavalin A-like lectins/glucanases,superfamily_WD40 repeat-like,superfamily_vWA-like,superfamily_Positive stranded ssRNA viruses HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_IG_MHC,HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_fn3,HMMSmart_SM00060,HMMPfam_PPAK,PatternScan_PROTEIN_KINASE_TYR,superfamily_Fibronectin type III,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Protein kinase-like (PK-like),superfamily_WD40 repeat-like,HMMPfam_I-set,HMMPfam_ig,HMMPfam_Titin_Z,HMMPfam_Pkinase,PatternScan_FGGY_KINASES_1,PatternScan_PEROXIDASE_1,superfamily_Immunoglobulin,superfamily_vWA-like,superfamily_Positive stranded ssRNA viruses - no_errors 978 7 0.71 411 285 40.95 11 0 0.00 WAC 0 genome.wustl.edu 36 10 28864676 28864677 + Frame_Shift_Ins INS - - AGGGC TCGA-AB-3009-03A-01D-0739-09 TCGA-AB-3009-11A-01D-0739-09 - - - AGGGC - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc b77c4cc4-b7bb-45b7-8324-70f96f9a3629 10 28864676 28864677 - AGGGC INS WAC NM_016628.3 human genbank 54_36p +1 reviewed frame_shift_ins c.258_259 p.E87fs 1.000:1.000 NULL HMMPfam_WW,HMMSmart_SM00456,PatternScan_WW_DOMAIN_1,superfamily_WW domain - no_errors 902 14 1.52838427947598 308 289 48.4087102177554 NA NA NA WT1 0 genome.wustl.edu 36 11 32374485 32374486 + Frame_Shift_Ins INS - - GACCG TCGA-AB-3009-03A-01D-0739-09 TCGA-AB-3009-11A-01D-0739-09 - - - GACCG - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc b77c4cc4-b7bb-45b7-8324-70f96f9a3629 11 32374485 32374486 - GACCG INS WT1 NM_024426.3 human genbank 54_36p -1 reviewed frame_shift_ins c.1143_1142 p.A382fs 0.771:0.996 HMMPfam_WT1 HMMPfam_WT1,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers - no_errors 474 2 0.420168067226891 284 198 41.0788381742739 NA NA NA LOC387761 0 genome.wustl.edu 36 11 42231838 42231838 + Frame_Shift_Del DEL A A - TCGA-AB-3009-03A-01D-0739-09 TCGA-AB-3009-11A-01D-0739-09 A A A - A A Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc b77c4cc4-b7bb-45b7-8324-70f96f9a3629 11 42231838 42231838 A - DEL LOC387761 XM_373495.1 human genbank 54_36p -1 model frame_shift_del c.184 p.S62fs 0.003 NULL NULL - no_errors 623 24 3.70 322 251 43.20 0 0 0.00 NUMA1 0 genome.wustl.edu 36 11 71402098 71402099 + Frame_Shift_Ins INS - - CCCC TCGA-AB-3009-03A-01D-0739-09 TCGA-AB-3009-11A-01D-0739-09 - - - CCCC - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc b77c4cc4-b7bb-45b7-8324-70f96f9a3629 11 71402098 71402099 - CCCC INS NUMA1 NM_006185.2 human genbank 54_36p -1 validated frame_shift_ins c.4099_4098 p.C1366fs 0.996:0.977 NULL superfamily_Prefoldin - no_errors 264 3 1.12359550561798 120 69 36.5079365079365 NA NA NA DNM2 0 genome.wustl.edu 36 19 10770237 10770238 + Frame_Shift_Ins INS - - GCCATCGT TCGA-AB-3009-03A-01D-0739-09 TCGA-AB-3009-11A-01D-0739-09 - - - GCCATCGT - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc b77c4cc4-b7bb-45b7-8324-70f96f9a3629 19 10770237 10770238 - GCCATCGT INS DNM2 NM_001005360.1 human genbank 54_36p +1 reviewed frame_shift_ins c.1411_1412 p.T471fs 1.000:1.000 HMMPfam_Dynamin_M HMMPfam_Dynamin_M,HMMPfam_Dynamin_N,HMMSmart_SM00053,HMMPfam_PH,HMMSmart_SM00233,HMMPfam_GED,HMMSmart_SM00302,PatternScan_DYNAMIN,superfamily_PH domain-like,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors 457 5 1.08225108225108 246 147 37.4045801526718 NA NA NA RUNX1 0 genome.wustl.edu 36 21 35174739 35174740 + Frame_Shift_Ins INS - - GGCTA TCGA-AB-3009-03A-01D-0739-09 TCGA-AB-3009-11A-01D-0739-09 - - - GGCTA - - Verified Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq 1 dbGAP Illumina HiSeq dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc b77c4cc4-b7bb-45b7-8324-70f96f9a3629 21 35174739 35174740 - GGCTA INS RUNX1 NM_001754.2 human genbank 54_36p -1 reviewed frame_shift_ins c.493_492 p.G164fs 1.000:1.000 superfamily_p53-like transcription factors,HMMPfam_Runt superfamily_p53-like transcription factors,HMMPfam_Runt,HMMPfam_RunxI - no_errors 532 6 1.11524163568773 306 188 38.0566801619433 NA NA NA