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 default_gene_name gene_name_source ensembl_gene_id tier dbSNP GMAF n_ref_count n_alt_count normal_vaf t_ref_count t_alt_count tumor_vaf n_ref_count_val n_alt_count_val normal_vaf_val t_ref_count_val t_alt_count_val tumor_vaf_val VWA8 0 genome.wustl.edu 37 13 42273392 42273392 + Missense_Mutation SNP T T C TCGA-DX-A3UB-01A-11D-A307-09 TCGA-DX-A3UB-10A-01D-A307-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 66b644e8-b86a-4f11-8e3f-63a9d913f618 db5413dc-7f80-4fbc-a345-6a5d8ed16ad0 13 42273392 42273392 T C SNP VWA8 ENST00000379310 human ensembl 74_37 -1 known missense c.3379 p.T1127A 0.418 NULL pfam_ATPase_dyneun-rel_AAA,pfam_VWF_A,superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_VWF_A,pfscan_VWF_A - no_errors VWA8 HGNC ENSG00000102763 tier1 - - 21 0 0.00 65 15 18.75 115 0 0.00 115 15 11.54 ISY1-RAB43 0 genome.wustl.edu 37 3 128864635 128864635 + Missense_Mutation SNP C C G TCGA-DX-A3UB-01A-11D-A307-09 TCGA-DX-A3UB-10A-01D-A307-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 66b644e8-b86a-4f11-8e3f-63a9d913f618 db5413dc-7f80-4fbc-a345-6a5d8ed16ad0 3 128864635 128864635 C G SNP ISY1-RAB43 ENST00000418265 human ensembl 74_37 -1 known missense c.269 p.R90P 1.000 pfam_Isy1 pfam_Isy1 - no_errors ISY1-RAB43 HGNC ENSG00000261796 tier1 - - 48 0 0.00 73 13 15.12 121 0 0.00 113 31 21.53 ZNF76 0 genome.wustl.edu 37 6 35255451 35255451 + Silent SNP C C T TCGA-DX-A3UB-01A-11D-A307-09 TCGA-DX-A3UB-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 66b644e8-b86a-4f11-8e3f-63a9d913f618 db5413dc-7f80-4fbc-a345-6a5d8ed16ad0 6 35255451 35255451 C T SNP ZNF76 ENST00000373953 human ensembl 74_37 +1 known silent c.261 p.A87 0.896 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF76 HGNC ENSG00000065029 tier1 - - 13 0 0.00 11 5 31.25 71 0 0.00 52 28 35.00 CENPE 0 genome.wustl.edu 37 4 104061060 104061060 + Silent SNP G G A TCGA-DX-A3UB-01A-11D-A307-09 TCGA-DX-A3UB-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 66b644e8-b86a-4f11-8e3f-63a9d913f618 db5413dc-7f80-4fbc-a345-6a5d8ed16ad0 4 104061060 104061060 G A SNP CENPE ENST00000265148 human ensembl 74_37 -1 known silent c.6090 p.S2030 0.019 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,superfamily_STAT_TF_coiled-coil,superfamily_Signal_recog_particl_SRP54_hlx,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors CENPE HGNC ENSG00000138778 tier1 - - 79 0 0.00 96 43 30.94 97 0 0.00 66 44 40.00 STARD13 0 genome.wustl.edu 37 13 33684840 33684840 + Missense_Mutation SNP C C T TCGA-DX-A3UB-01A-11D-A307-09 TCGA-DX-A3UB-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 66b644e8-b86a-4f11-8e3f-63a9d913f618 db5413dc-7f80-4fbc-a345-6a5d8ed16ad0 13 33684840 33684840 C T SNP STARD13 ENST00000336934 human ensembl 74_37 -1 known missense c.2812 p.D938N 1.000 pfam_START_lipid-bd_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom - no_errors STARD13 HGNC ENSG00000133121 tier1 - - 31 0 0.00 45 19 29.69 77 0 0.00 53 18 25.35 OR2T8 0 genome.wustl.edu 37 1 248084815 248084815 + Missense_Mutation SNP T T C TCGA-DX-A3UB-01A-11D-A307-09 TCGA-DX-A3UB-10A-01D-A307-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 66b644e8-b86a-4f11-8e3f-63a9d913f618 db5413dc-7f80-4fbc-a345-6a5d8ed16ad0 1 248084815 248084815 T C SNP OR2T8 ENST00000319968 human ensembl 74_37 +1 known missense c.496 p.Y166H 0.124 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T8 HGNC ENSG00000177462 tier1 - - 8 0 0.00 16 8 33.33 15 0 0.00 11 2 15.38 TMEM252 0 genome.wustl.edu 37 9 71155617 71155617 + Silent SNP C C A TCGA-DX-A3UB-01A-11D-A307-09 TCGA-DX-A3UB-10A-01D-A307-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 66b644e8-b86a-4f11-8e3f-63a9d913f618 db5413dc-7f80-4fbc-a345-6a5d8ed16ad0 9 71155617 71155617 C A SNP TMEM252 ENST00000377311 human ensembl 74_37 -1 known silent c.114 p.G38 0.000 NULL NULL - no_errors TMEM252 HGNC ENSG00000181778 tier1 - - 23 0 0.00 27 10 27.03 94 0 0.00 73 29 28.16 ESRP1 0 genome.wustl.edu 37 8 95658450 95658450 + Frame_Shift_Del DEL A A - TCGA-DX-A3UB-01A-11D-A307-09 TCGA-DX-A3UB-10A-01D-A307-09 A A A - A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 66b644e8-b86a-4f11-8e3f-63a9d913f618 db5413dc-7f80-4fbc-a345-6a5d8ed16ad0 8 95658450 95658450 A - DEL ESRP1 ENST00000433389 human ensembl 74_37 +1 known frame_shift_del c.430 p.K144fs 1.000 superfamily_RNaseH-like_dom superfamily_RNaseH-like_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors ESRP1 HGNC ENSG00000104413 tier1 71 0 0.00 53 41 43.62 129 0 0.00 69 19 21.59 PIM1 0 genome.wustl.edu 37 6 37139016 37139025 + Frame_Shift_Del DEL TCCTGGAGAG TCCTGGAGAG - TCGA-DX-A3UB-01A-11D-A307-09 TCGA-DX-A3UB-10A-01D-A307-09 TCCTGGAGAG TCCTGGAGAG TCCTGGAGAG - TCCTGGAGAG TCCTGGAGAG Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 66b644e8-b86a-4f11-8e3f-63a9d913f618 db5413dc-7f80-4fbc-a345-6a5d8ed16ad0 6 37139016 37139025 TCCTGGAGAG - DEL PIM1 ENST00000373509 human ensembl 74_37 +1 known frame_shift_del c.356_365 p.I119fs 1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.944:1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors PIM1 HGNC ENSG00000137193 tier1 94 0 0.00 67 10 12.99 94 0 0.00 67 10 12.99 VPS45 0 genome.wustl.edu 37 1 150082514 150082514 + R DEL A A - TCGA-DX-A3UB-01A-11D-A307-09 TCGA-DX-A3UB-10A-01D-A307-09 A A A - A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 66b644e8-b86a-4f11-8e3f-63a9d913f618 db5413dc-7f80-4fbc-a345-6a5d8ed16ad0 1 150082514 150082514 A - DEL VPS45 ENST00000484306 human ensembl 74_37 +1 known rna NULL NULL 0.965 - - - no_errors VPS45 HGNC ENSG00000136631 tier1 18 0 0.00 31 5 13.89 47 0 0.00 45 6 11.76 MIEF2 0 genome.wustl.edu 37 17 18167708 18167708 + Missense_Mutation SNP A A G TCGA-DX-A3UB-01A-11D-A307-09 TCGA-DX-A3UB-10A-01D-A307-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 66b644e8-b86a-4f11-8e3f-63a9d913f618 db5413dc-7f80-4fbc-a345-6a5d8ed16ad0 17 18167708 18167708 A G SNP MIEF2 ENST00000323019 human ensembl 74_37 +1 known missense c.995 p.Q332R 1.000 NULL NULL - no_errors MIEF2 HGNC ENSG00000177427 tier1 - - 19 0 0.00 26 13 33.33 16 0 0.00 9 2 18.18 MYH1 0 genome.wustl.edu 37 17 10404621 10404621 + Missense_Mutation SNP G G T TCGA-DX-A3UB-01A-11D-A307-09 TCGA-DX-A3UB-10A-01D-A307-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 66b644e8-b86a-4f11-8e3f-63a9d913f618 db5413dc-7f80-4fbc-a345-6a5d8ed16ad0 17 10404621 10404621 G T SNP MYH1 ENST00000226207 human ensembl 74_37 -1 known missense c.3544 p.L1182M 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_tR-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH1 HGNC ENSG00000109061 tier1 - - 65 0 0.00 97 55 36.18 14 0 0.00 7 3 30.00 TPM3 0 genome.wustl.edu 37 1 154144674 154144674 + R DEL A A - TCGA-DX-A3UB-01A-11D-A307-09 TCGA-DX-A3UB-10A-01D-A307-09 A A A - A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 66b644e8-b86a-4f11-8e3f-63a9d913f618 db5413dc-7f80-4fbc-a345-6a5d8ed16ad0 1 154144674 154144674 A - DEL TPM3 ENST00000469717 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors TPM3 HGNC ENSG00000143549 tier1 22 0 0.00 51 5 8.93 56 0 0.00 60 6 9.09 AZU1 0 genome.wustl.edu 37 19 831755 831755 + Missense_Mutation SNP C C T TCGA-DX-A3UB-01A-11D-A307-09 TCGA-DX-A3UB-10A-01D-A307-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 66b644e8-b86a-4f11-8e3f-63a9d913f618 db5413dc-7f80-4fbc-a345-6a5d8ed16ad0 19 831755 831755 C T SNP AZU1 ENST00000233997 human ensembl 74_37 +1 known missense c.634 p.H212Y 0.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors AZU1 HGNC ENSG00000172232 tier1 - - 38 0 0.00 67 22 24.72 9 0 0.00 6 0 0.00 NEUROG2 0 genome.wustl.edu 37 4 113436358 113436358 + Missense_Mutation SNP G G A TCGA-DX-A3UB-01A-11D-A307-09 TCGA-DX-A3UB-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 66b644e8-b86a-4f11-8e3f-63a9d913f618 db5413dc-7f80-4fbc-a345-6a5d8ed16ad0 4 113436358 113436358 G A SNP NEUROG2 ENST00000313341 human ensembl 74_37 -1 known missense c.274 p.R92W 0.709 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors NEUROG2 HGNC ENSG00000178403 tier1 - - 33 0 0.00 43 24 35.82 5 0 0.00 2 0 0.00 CABLES1 0 genome.wustl.edu 37 18 20716015 20716023 + In_Frame_Del DEL GGCGCCGGC GGCGCCGGC - TCGA-DX-A3UB-01A-11D-A307-09 TCGA-DX-A3UB-10A-01D-A307-09 GGCGCCGGC GGCGCCGGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 66b644e8-b86a-4f11-8e3f-63a9d913f618 db5413dc-7f80-4fbc-a345-6a5d8ed16ad0 18 20716015 20716023 GGCGCCGGC - DEL CABLES1 ENST00000256925 human ensembl 74_37 +1 known in_frame_del c.289_297 p.GGA99in_frame_del 0.983:0.981:0.990:0.998:0.999:0.997:0.999:0.999:0.997 pirsf_Cdk5/c-Abl_linker_Cables pfam_Cyclin_N,superfamily_Cyclin-like,pirsf_Cdk5/c-Abl_linker_Cables - no_errors CABLES1 HGNC ENSG00000134508 tier1 0 0 0.00 1 0 0.00 0 0 0.00 1 0 0.00 ENSG00000215941 0 genome.wustl.edu 37 3 38948802 38948811 + R DEL TGTGTGTGTG TGTGTGTGTG - TCGA-DX-A3UB-01A-11D-A307-09 TCGA-DX-A3UB-10A-01D-A307-09 TGTGTGTGTG TGTGTGTGTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 66b644e8-b86a-4f11-8e3f-63a9d913f618 db5413dc-7f80-4fbc-a345-6a5d8ed16ad0 3 38948802 38948811 TGTGTGTGTG - DEL ENSG00000215941 ENST00000401122 human ensembl 74_37 +1 novel rna NULL NULL 0.000:0.001:0.005:0.007:0.015:0.028:0.021:0.020:0.022:0.022 - - - no_errors AC116038.1 Clone_based_ensembl_gene ENSG00000215941 tier1 0 0 0.00 0 0 0.00 0 0 0.00 0 0 0.00 ENSG00000215976 0 genome.wustl.edu 37 12 104378945 104378954 + R DEL ACACACACAC ACACACACAC - TCGA-DX-A3UB-01A-11D-A307-09 TCGA-DX-A3UB-10A-01D-A307-09 ACACACACAC ACACACACAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 66b644e8-b86a-4f11-8e3f-63a9d913f618 db5413dc-7f80-4fbc-a345-6a5d8ed16ad0 12 104378945 104378954 ACACACACAC - DEL ENSG00000215976 ENST00000401157 human ensembl 74_37 +1 novel rna NULL NULL 0.022:0.023:0.025:0.026:0.026:0.026:0.026:0.025:0.024:0.023 - - - no_errors AC078819.1 Clone_based_ensembl_gene ENSG00000215976 tier1 0 0 0.00 0 0 0.00 0 0 0.00 0 0 0.00 LINC00266-1 0 genome.wustl.edu 37 20 62934863 62934864 + R INS - - TT TCGA-DX-A3UB-01A-11D-A307-09 TCGA-DX-A3UB-10A-01D-A307-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 66b644e8-b86a-4f11-8e3f-63a9d913f618 db5413dc-7f80-4fbc-a345-6a5d8ed16ad0 20 62934863 62934864 - TT INS LINC00266-1 ENST00000279067 human ensembl 74_37 +1 known rna NULL NULL 0.448:0.498 - - - no_errors LINC00266-1 HGNC ENSG00000149656 tier1 20 0 0.00 37 8 17.78 0 0 0.00 0 0 0.00 ARHGAP29 0 genome.wustl.edu 37 1 94643143 94643144 + R INS - - T TCGA-DX-A3UB-01A-11D-A307-09 TCGA-DX-A3UB-10A-01D-A307-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 66b644e8-b86a-4f11-8e3f-63a9d913f618 db5413dc-7f80-4fbc-a345-6a5d8ed16ad0 1 94643143 94643144 - T INS ARHGAP29 ENST00000482481 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors ARHGAP29 HGNC ENSG00000137962 tier1 26 0 0.00 41 5 10.87 34 0 0.00 51 2 3.77