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 AZGP1 0 genome.wustl.edu 37 7 99564556 99564556 + R SNP C C G TCGA-JV-A75J-01A-11D-A32I-09 TCGA-JV-A75J-10A-01D-A32I-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9003f7a7-91de-4a5f-b63b-e2c6da70f128 dfb9bea3-cc77-42ff-b489-c40d0c923396 7 99564556 99564556 C G SNP AZGP1 ENST00000483612 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors AZGP1 HGNC ENSG00000160862 tier1 - - 36 0 0.00 12 18 60.00 56 1 1.75 15 22 59.46 GABRG3 0 genome.wustl.edu 37 15 27777805 27777805 + Silent SNP C C T TCGA-JV-A75J-01A-11D-A32I-09 TCGA-JV-A75J-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9003f7a7-91de-4a5f-b63b-e2c6da70f128 dfb9bea3-cc77-42ff-b489-c40d0c923396 15 27777805 27777805 C T SNP GABRG3 ENST00000333743 human ensembl 74_37 +1 known silent c.1182 p.S394 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg3_rcpt,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,prints_GABAA_rcpt,prints_GABBAg3_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRG3 HGNC ENSG00000182256 tier1 - - 72 0 0.00 36 67 65.05 223 0 0.00 66 73 52.52 NPC1L1 0 genome.wustl.edu 37 7 44560685 44560685 + Missense_Mutation SNP T T C TCGA-JV-A75J-01A-11D-A32I-09 TCGA-JV-A75J-10A-01D-A32I-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9003f7a7-91de-4a5f-b63b-e2c6da70f128 dfb9bea3-cc77-42ff-b489-c40d0c923396 7 44560685 44560685 T C SNP NPC1L1 ENST00000289547 human ensembl 74_37 -1 known missense c.2986 p.I996V 0.000 NULL pfam_Patched,pfscan_SSD - no_errors NPC1L1 HGNC ENSG00000015520 tier1 - - 26 0 0.00 22 16 42.11 106 0 0.00 47 28 37.33 OR4M1 0 genome.wustl.edu 37 14 20249229 20249229 + Missense_Mutation SNP G G C TCGA-JV-A75J-01A-11D-A32I-09 TCGA-JV-A75J-10A-01D-A32I-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9003f7a7-91de-4a5f-b63b-e2c6da70f128 dfb9bea3-cc77-42ff-b489-c40d0c923396 14 20249229 20249229 G C SNP OR4M1 ENST00000315957 human ensembl 74_37 +1 known missense c.748 p.V250L 0.998 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4M1 HGNC ENSG00000176299 tier1 - - 173 0 0.00 141 38 21.23 328 0 0.00 101 26 20.31 ATG2B 0 genome.wustl.edu 37 14 96784117 96784117 + Silent SNP G G A TCGA-JV-A75J-01A-11D-A32I-09 TCGA-JV-A75J-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9003f7a7-91de-4a5f-b63b-e2c6da70f128 dfb9bea3-cc77-42ff-b489-c40d0c923396 14 96784117 96784117 G A SNP ATG2B ENST00000359933 human ensembl 74_37 -1 known silent c.2955 p.G985 0.301 NULL pfam_Autophagy-rel_C - no_errors ATG2B HGNC ENSG00000066739 tier1 - - 107 0 0.00 41 44 51.76 158 1 0.63 40 33 45.21 FAT2 0 genome.wustl.edu 37 5 150946545 150946545 + Missense_Mutation SNP A A C TCGA-JV-A75J-01A-11D-A32I-09 TCGA-JV-A75J-10A-01D-A32I-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9003f7a7-91de-4a5f-b63b-e2c6da70f128 dfb9bea3-cc77-42ff-b489-c40d0c923396 5 150946545 150946545 A C SNP FAT2 ENST00000261800 human ensembl 74_37 -1 known missense c.1948 p.S650A 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT2 HGNC ENSG00000086570 tier1 - - 47 0 0.00 15 15 50.00 237 0 0.00 62 63 50.40 RSPH4A 0 genome.wustl.edu 37 6 116949179 116949179 + Missense_Mutation SNP C C T TCGA-JV-A75J-01A-11D-A32I-09 TCGA-JV-A75J-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9003f7a7-91de-4a5f-b63b-e2c6da70f128 dfb9bea3-cc77-42ff-b489-c40d0c923396 6 116949179 116949179 C T SNP RSPH4A ENST00000229554 human ensembl 74_37 +1 known missense c.1309 p.P437S 1.000 pfam_Radial_spoke pfam_Radial_spoke - no_errors RSPH4A HGNC ENSG00000111834 tier1 - - 74 0 0.00 40 45 52.94 227 0 0.00 49 66 57.39 MYO9A 0 genome.wustl.edu 37 15 72190133 72190133 + Missense_Mutation SNP G G C TCGA-JV-A75J-01A-11D-A32I-09 TCGA-JV-A75J-10A-01D-A32I-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9003f7a7-91de-4a5f-b63b-e2c6da70f128 dfb9bea3-cc77-42ff-b489-c40d0c923396 15 72190133 72190133 G C SNP MYO9A ENST00000424560 human ensembl 74_37 -1 known missense c.4711 p.L1571V 0.012 NULL pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom - no_errors MYO9A HGNC ENSG00000066933 tier1 - - 45 0 0.00 47 18 27.69 154 0 0.00 91 41 30.83 ADAD2 0 genome.wustl.edu 37 16 84230276 84230276 + Missense_Mutation SNP G G A TCGA-JV-A75J-01A-11D-A32I-09 TCGA-JV-A75J-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9003f7a7-91de-4a5f-b63b-e2c6da70f128 dfb9bea3-cc77-42ff-b489-c40d0c923396 16 84230276 84230276 G A SNP ADAD2 ENST00000268624 human ensembl 74_37 +1 known missense c.1796 p.R599H 1.000 pfam_A_deamin,smart_A_deamin,pfscan_A_deamin pfam_A_deamin,pfam_dsR-bd_dom,smart_A_deamin,pfscan_dsR-bd_dom,pfscan_A_deamin - no_errors ADAD2 HGNC ENSG00000140955 tier1 - - 35 0 0.00 18 20 52.63 101 0 0.00 34 33 49.25 MARS2 0 genome.wustl.edu 37 2 198571474 198571474 + Missense_Mutation SNP C C G TCGA-JV-A75J-01A-11D-A32I-09 TCGA-JV-A75J-10A-01D-A32I-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9003f7a7-91de-4a5f-b63b-e2c6da70f128 dfb9bea3-cc77-42ff-b489-c40d0c923396 2 198571474 198571474 C G SNP MARS2 ENST00000282276 human ensembl 74_37 +1 known missense c.1345 p.L449V 0.965 superfamily_tRsynth_1a_anticodon-bd,tigrfam_Met-tR_synth pfam_Methionyl/Leucyl_tR_Synth,pfam_aa-tR-synth_Ia,pfam_Cys-tR/MSH_ligase,superfamily_tRsynth_1a_anticodon-bd,prints_Met-tR_synth,tigrfam_Met-tR_synth - no_errors MARS2 HGNC ENSG00000247626 tier1 - - 28 0 0.00 16 18 52.94 96 0 0.00 37 35 48.61 ISM1 0 genome.wustl.edu 37 20 13279761 13279761 + Silent SNP C C T TCGA-JV-A75J-01A-11D-A32I-09 TCGA-JV-A75J-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9003f7a7-91de-4a5f-b63b-e2c6da70f128 dfb9bea3-cc77-42ff-b489-c40d0c923396 20 13279761 13279761 C T SNP ISM1 ENST00000262487 human ensembl 74_37 +1 known silent c.1050 p.D350 0.980 pfam_AMOP,smart_AMOP,pfscan_AMOP pfam_AMOP,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_AMOP,pfscan_AMOP,pfscan_Thrombospondin_1_rpt - no_errors ISM1 HGNC ENSG00000101230 tier1 - - 31 0 0.00 16 17 51.52 60 0 0.00 10 9 47.37 ERVMER34-1 0 genome.wustl.edu 37 4 53610776 53610776 + Silent SNP C C T TCGA-JV-A75J-01A-11D-A32I-09 TCGA-JV-A75J-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9003f7a7-91de-4a5f-b63b-e2c6da70f128 dfb9bea3-cc77-42ff-b489-c40d0c923396 4 53610776 53610776 C T SNP ERVMER34-1 ENST00000440542 human ensembl 74_37 -1 known silent c.912 p.G304 0.006 NULL pfam_TLV/ENV_coat_polyprotein - no_errors ERVMER34-1 HGNC ENSG00000226887 tier1 - - 59 0 0.00 29 25 46.30 261 0 0.00 80 76 48.72 DNMT1 0 genome.wustl.edu 37 19 10287970 10287970 + Silent SNP C C T TCGA-JV-A75J-01A-11D-A32I-09 TCGA-JV-A75J-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9003f7a7-91de-4a5f-b63b-e2c6da70f128 dfb9bea3-cc77-42ff-b489-c40d0c923396 19 10287970 10287970 C T SNP DNMT1 ENST00000359526 human ensembl 74_37 -1 known silent c.567 p.K189 0.692 pirsf_D_C5-MeTrfase_1_euk pirsf_D_C5-MeTrfase_1_euk,pfam_C5_MeTfrase,pfam_BAH_dom,pfam_Cytosine_MeTrfase1_RFD,pfam_DMAP1-bd,pfam_Znf_CXXC,smart_BAH_dom,prints_C5_MeTfrase,pfscan_BAH_dom,pfscan_Znf_CXXC - no_errors DNMT1 HGNC ENSG00000130816 tier1 - - 82 0 0.00 81 32 28.32 221 0 0.00 114 64 35.96 IFNLR1 0 genome.wustl.edu 37 1 24484288 24484288 + Missense_Mutation SNP T T A TCGA-JV-A75J-01A-11D-A32I-09 TCGA-JV-A75J-10A-01D-A32I-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9003f7a7-91de-4a5f-b63b-e2c6da70f128 dfb9bea3-cc77-42ff-b489-c40d0c923396 1 24484288 24484288 T A SNP IFNLR1 ENST00000327535 human ensembl 74_37 -1 known missense c.895 p.T299S 0.104 NULL superfamily_Fibronectin_type3 - no_errors IFNLR1 HGNC ENSG00000185436 tier1 - - 55 0 0.00 33 22 40.00 188 0 0.00 67 53 44.17 ENSG00000270012 0 genome.wustl.edu 37 X 49130125 49130125 + R SNP G G T TCGA-JV-A75J-01A-11D-A32I-09 TCGA-JV-A75J-10A-01D-A32I-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9003f7a7-91de-4a5f-b63b-e2c6da70f128 dfb9bea3-cc77-42ff-b489-c40d0c923396 X 49130125 49130125 G T SNP ENSG00000270012 ENST00000602455 human ensembl 74_37 +1 known rna NULL NULL 0.891 - - - no_errors LL0XNC01-7P3.1 Clone_based_vega_gene ENSG00000270012 tier1 - - 17 0 0.00 10 7 41.18 177 0 0.00 55 28 33.73 TRIML2 0 genome.wustl.edu 37 4 189012788 189012788 + Silent SNP A A T TCGA-JV-A75J-01A-11D-A32I-09 TCGA-JV-A75J-10A-01D-A32I-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9003f7a7-91de-4a5f-b63b-e2c6da70f128 dfb9bea3-cc77-42ff-b489-c40d0c923396 4 189012788 189012788 A T SNP TRIML2 ENST00000512729 human ensembl 74_37 -1 known silent c.903 p.T301 0.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin - no_errors TRIML2 HGNC ENSG00000179046 tier1 - - 43 0 0.00 18 16 47.06 132 0 0.00 34 30 46.15 ADAMTS12 0 genome.wustl.edu 37 5 33561192 33561192 + Missense_Mutation SNP G G C TCGA-JV-A75J-01A-11D-A32I-09 TCGA-JV-A75J-10A-01D-A32I-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9003f7a7-91de-4a5f-b63b-e2c6da70f128 dfb9bea3-cc77-42ff-b489-c40d0c923396 5 33561192 33561192 G C SNP ADAMTS12 ENST00000504830 human ensembl 74_37 -1 known missense c.4065 p.D1355E 0.998 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS12 HGNC ENSG00000151388 tier1 - - 77 0 0.00 29 37 56.06 147 0 0.00 53 43 44.33 AKAP11 0 genome.wustl.edu 37 13 42891697 42891697 + Missense_Mutation SNP C C T TCGA-JV-A75J-01A-11D-A32I-09 TCGA-JV-A75J-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9003f7a7-91de-4a5f-b63b-e2c6da70f128 dfb9bea3-cc77-42ff-b489-c40d0c923396 13 42891697 42891697 C T SNP AKAP11 ENST00000025301 human ensembl 74_37 +1 known missense c.5438 p.T1813M 0.000 NULL NULL - no_errors AKAP11 HGNC ENSG00000023516 tier1 - - 47 0 0.00 46 7 13.21 212 0 0.00 94 20 17.54 TSHZ1 0 genome.wustl.edu 37 18 72998202 72998202 + Silent SNP C C T TCGA-JV-A75J-01A-11D-A32I-09 TCGA-JV-A75J-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9003f7a7-91de-4a5f-b63b-e2c6da70f128 dfb9bea3-cc77-42ff-b489-c40d0c923396 18 72998202 72998202 C T SNP TSHZ1 ENST00000580243 human ensembl 74_37 +1 known silent c.840 p.S280 0.999 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors TSHZ1 HGNC ENSG00000179981 tier1 - - 42 0 0.00 27 33 55.00 99 0 0.00 40 34 45.95 NDST3 0 genome.wustl.edu 37 4 119154221 119154221 + Missense_Mutation SNP C C T TCGA-JV-A75J-01A-11D-A32I-09 TCGA-JV-A75J-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9003f7a7-91de-4a5f-b63b-e2c6da70f128 dfb9bea3-cc77-42ff-b489-c40d0c923396 4 119154221 119154221 C T SNP NDST3 ENST00000296499 human ensembl 74_37 +1 known missense c.1874 p.S625F 1.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors NDST3 HGNC ENSG00000164100 tier1 - - 108 0 0.00 60 39 39.39 311 0 0.00 68 63 48.09 ITGB7 0 genome.wustl.edu 37 12 53589909 53589909 + Silent SNP G G A TCGA-JV-A75J-01A-11D-A32I-09 TCGA-JV-A75J-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9003f7a7-91de-4a5f-b63b-e2c6da70f128 dfb9bea3-cc77-42ff-b489-c40d0c923396 12 53589909 53589909 G A SNP ITGB7 ENST00000267082 human ensembl 74_37 -1 known silent c.891 p.D297 0.990 pirsf_Integrin_bsu,pfam_Integrin_bsu_N,smart_Integrin_bsu_N,prints_Integrin_bsu pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_cyt_dom,pfam_EGF_extracell,superfamily_Plexin-like_fold,superfamily_Integrin_bsu_tail,smart_Plexin-like_fold,smart_Integrin_bsu_N,prints_Integrin_bsu - no_errors ITGB7 HGNC ENSG00000139626 tier1 - - 51 0 0.00 24 32 57.14 163 0 0.00 49 45 47.87 BCL2L12 0 genome.wustl.edu 37 19 50169166 50169166 + Missense_Mutation SNP T T A TCGA-JV-A75J-01A-11D-A32I-09 TCGA-JV-A75J-10A-01D-A32I-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9003f7a7-91de-4a5f-b63b-e2c6da70f128 dfb9bea3-cc77-42ff-b489-c40d0c923396 19 50169166 50169166 T A SNP BCL2L12 ENST00000246785 human ensembl 74_37 +1 known missense c.86 p.I29N 0.888 NULL NULL - no_errors BCL2L12 HGNC ENSG00000126453 tier1 - - 54 0 0.00 61 42 40.78 113 0 0.00 38 19 33.33 ECE2 0 genome.wustl.edu 37 3 184009139 184009139 + Missense_Mutation SNP A A C TCGA-JV-A75J-01A-11D-A32I-09 TCGA-JV-A75J-10A-01D-A32I-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9003f7a7-91de-4a5f-b63b-e2c6da70f128 dfb9bea3-cc77-42ff-b489-c40d0c923396 3 184009139 184009139 A C SNP ECE2 ENST00000402825 human ensembl 74_37 +1 known missense c.2387 p.K796T 0.106 pfam_Peptidase_M13_C pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,pfam_Methyltransf_11,prints_Peptidase_M13_C - no_errors ECE2 HGNC ENSG00000145194 tier1 - - 54 0 0.00 22 21 48.84 91 0 0.00 27 21 43.75 ELMO1 0 genome.wustl.edu 37 7 36895294 36895295 + Frame_Shift_Ins INS - - G TCGA-JV-A75J-01A-11D-A32I-09 TCGA-JV-A75J-10A-01D-A32I-09 - - - G - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9003f7a7-91de-4a5f-b63b-e2c6da70f128 dfb9bea3-cc77-42ff-b489-c40d0c923396 7 36895294 36895295 - G INS ELMO1 ENST00000310758 human ensembl 74_37 -1 known frame_shift_ins c.2046_2045 p.R683fs 0.017:0.999 NULL pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold - no_errors ELMO1 HGNC ENSG00000155849 tier1 37 0 0.00 18 17 48.57 126 0 0.00 36 19 34.55 FAM230C 0 genome.wustl.edu 37 22 21663891 21663891 + R SNP T T C TCGA-JV-A75J-01A-11D-A32I-09 TCGA-JV-A75J-10A-01D-A32I-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9003f7a7-91de-4a5f-b63b-e2c6da70f128 dfb9bea3-cc77-42ff-b489-c40d0c923396 22 21663891 21663891 T C SNP FAM230C ENST00000436681 human ensembl 74_37 -1 known rna NULL NULL 0.411 - - - no_errors KB-1183D5.13 Clone_based_vega_gene ENSG00000206142 tier1 - - 63 0 0.00 1 8 88.89 7 0 0.00 0 2 100.00 HMGB1P5 0 genome.wustl.edu 37 3 22424060 22424060 + R SNP G G A TCGA-JV-A75J-01A-11D-A32I-09 TCGA-JV-A75J-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9003f7a7-91de-4a5f-b63b-e2c6da70f128 dfb9bea3-cc77-42ff-b489-c40d0c923396 3 22424060 22424060 G A SNP HMGB1P5 ENST00000451497 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors HMGB1P5 HGNC ENSG00000132967 tier1 - - 51 0 0.00 30 32 51.61 17 0 0.00 3 7 70.00 LENG8 0 genome.wustl.edu 37 19 54967914 54967914 + Silent SNP C C A TCGA-JV-A75J-01A-11D-A32I-09 TCGA-JV-A75J-10A-01D-A32I-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9003f7a7-91de-4a5f-b63b-e2c6da70f128 dfb9bea3-cc77-42ff-b489-c40d0c923396 19 54967914 54967914 C A SNP LENG8 ENST00000326764 human ensembl 74_37 +1 known silent c.1545 p.R515 1.000 NULL pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25 - no_errors LENG8 HGNC ENSG00000167615 tier1 - - 51 0 0.00 25 28 52.83 13 0 0.00 3 7 70.00 PLD4 0 genome.wustl.edu 37 14 105394089 105394089 + Missense_Mutation SNP C C T TCGA-JV-A75J-01A-11D-A32I-09 TCGA-JV-A75J-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9003f7a7-91de-4a5f-b63b-e2c6da70f128 dfb9bea3-cc77-42ff-b489-c40d0c923396 14 105394089 105394089 C T SNP PLD4 ENST00000392593 human ensembl 74_37 +1 known missense c.170 p.P57L 0.000 NULL pfam_PLipase_D/transphosphatidylase,smart_PLipase_D/transphosphatidylase,pfscan_PLipase_D/transphosphatidylase - no_errors PLD4 HGNC ENSG00000166428 tier1 - - 92 0 0.00 59 46 43.81 28 0 0.00 7 4 33.33 CASZ1 0 genome.wustl.edu 37 1 10725140 10725140 + Nonsense_Mutation SNP C C A TCGA-JV-A75J-01A-11D-A32I-09 TCGA-JV-A75J-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9003f7a7-91de-4a5f-b63b-e2c6da70f128 dfb9bea3-cc77-42ff-b489-c40d0c923396 1 10725140 10725140 C A SNP CASZ1 ENST00000377022 human ensembl 74_37 -1 known nonsense c.505 p.G169* 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CASZ1 HGNC ENSG00000130940 tier1 - - 29 0 0.00 44 4 8.33 37 0 0.00 6 0 0.00 CDC42EP1 0 genome.wustl.edu 37 22 37964613 37964613 + Missense_Mutation SNP G G T TCGA-JV-A75J-01A-11D-A32I-09 TCGA-JV-A75J-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9003f7a7-91de-4a5f-b63b-e2c6da70f128 dfb9bea3-cc77-42ff-b489-c40d0c923396 22 37964613 37964613 G T SNP CDC42EP1 ENST00000249014 human ensembl 74_37 +1 known missense c.962 p.W321L 0.365 NULL pfam_CRIB_dom,smart_CRIB_dom,pfscan_CRIB_dom - no_errors CDC42EP1 HGNC ENSG00000128283 tier1 - - 36 0 0.00 20 3 13.04 14 0 0.00 6 0 0.00 KRTAP5-5 0 genome.wustl.edu 37 11 1651210 1651239 + In_Frame_Del DEL GCTGTGGCTCCGGCTGTGCGGGCTGTGGGG GCTGTGGCTCCGGCTGTGCGGGCTGTGGGG - TCGA-JV-A75J-01A-11D-A32I-09 TCGA-JV-A75J-10A-01D-A32I-09 GCTGTGGCTCCGGCTGTGCGGGCTGTGGGG GCTGTGGCTCCGGCTGTGCGGGCTGTGGGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9003f7a7-91de-4a5f-b63b-e2c6da70f128 dfb9bea3-cc77-42ff-b489-c40d0c923396 11 1651210 1651239 GCTGTGGCTCCGGCTGTGCGGGCTGTGGGG - DEL KRTAP5-5 ENST00000399676 human ensembl 74_37 +1 known in_frame_del c.140_169 p.GCAGCGGCGS51in_frame_del 0.818:0.967:0.993:0.997:0.997:0.999:1.000:0.998:0.998:0.991:0.983:0.976:1.000:1.000:0.999:0.995:0.061:0.083:0.113:0.325:0.996:0.999:1.000:1.000:0.999:0.994:0.996:0.995:0.546:0.579 NULL NULL - no_errors KRTAP5-5 HGNC ENSG00000185940 tier1 6 0 0.00 2 0 0.00 6 0 0.00 2 0 0.00 PTGDS 0 genome.wustl.edu 37 9 139873774 139873774 + Silent SNP C C A TCGA-JV-A75J-01A-11D-A32I-09 TCGA-JV-A75J-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9003f7a7-91de-4a5f-b63b-e2c6da70f128 dfb9bea3-cc77-42ff-b489-c40d0c923396 9 139873774 139873774 C A SNP PTGDS ENST00000224167 human ensembl 74_37 +1 known silent c.354 p.P118 0.000 superfamily_Calycin-like pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_PstgldnD_synth - no_errors PTGDS HGNC ENSG00000107317 tier1 - - 73 0 0.00 32 4 11.11 12 0 0.00 2 0 0.00 DNM1P51 0 genome.wustl.edu 37 15 84957480 84957499 + R DEL GGCCCCACATCCATTGAGAA GGCCCCACATCCATTGAGAA - TCGA-JV-A75J-01A-11D-A32I-09 TCGA-JV-A75J-10A-01D-A32I-09 GGCCCCACATCCATTGAGAA GGCCCCACATCCATTGAGAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9003f7a7-91de-4a5f-b63b-e2c6da70f128 dfb9bea3-cc77-42ff-b489-c40d0c923396 15 84957480 84957499 GGCCCCACATCCATTGAGAA - DEL DNM1P51 ENST00000558801 human ensembl 74_37 -1 known rna NULL NULL 0.404:0.401:0.398:0.395:0.392:0.390:0.387:0.385:0.382:0.380:0.378:0.376:0.374:0.372:0.370:0.368:0.366:0.365:0.363:0.362 - - - no_errors DNM1P51 HGNC ENSG00000235370 tier1 1 0 0.00 1 1 50.00 1 0 0.00 1 1 50.00 ENSG00000236233 0 genome.wustl.edu 37 9 67793683 67793684 + R INS - - CT TCGA-JV-A75J-01A-11D-A32I-09 TCGA-JV-A75J-10A-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9003f7a7-91de-4a5f-b63b-e2c6da70f128 dfb9bea3-cc77-42ff-b489-c40d0c923396 9 67793683 67793684 - CT INS ENSG00000236233 ENST00000315762 human ensembl 74_37 +1 known rna NULL NULL 0.063:0.065 - - - no_errors RP11-12A20.7 Clone_based_vega_gene ENSG00000236233 tier1 10 0 0.00 7 6 46.15 0 0 0.00 1 0 0.00 PSG8 0 genome.wustl.edu 37 19 43257095 43257096 + R INS - - GGTTGAGATGGTTGAGA TCGA-JV-A75J-01A-11D-A32I-09 TCGA-JV-A75J-10A-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9003f7a7-91de-4a5f-b63b-e2c6da70f128 dfb9bea3-cc77-42ff-b489-c40d0c923396 19 43257095 43257096 - GGTTGAGATGGTTGAGA INS PSG8 ENST00000600709 human ensembl 74_37 -1 known rna NULL NULL 0.099:0.098 - - - no_errors PSG8 HGNC ENSG00000124467 tier1 0 0 0.00 0 0 0.00 0 0 0.00 0 0 0.00 SGK223 0 genome.wustl.edu 37 8 8176387 8176388 + In_Frame_Ins INS - - GGGGCG TCGA-JV-A75J-01A-11D-A32I-09 TCGA-JV-A75J-10A-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9003f7a7-91de-4a5f-b63b-e2c6da70f128 dfb9bea3-cc77-42ff-b489-c40d0c923396 8 8176387 8176388 - GGGGCG INS SGK223 ENST00000330777 human ensembl 74_37 -1 known in_frame_ins c.3498_3497 p.1170in_frame_insPA 0.000:0.034 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom - no_errors SGK223 Uniprot_gn ENSG00000182319 tier1 0 0 0.00 0 0 0.00 0 0 0.00 0 0 0.00 CHD2 0 genome.wustl.edu 37 15 93558113 93558113 + Missense_Mutation SNP C C A TCGA-JV-A75J-01A-11D-A32I-09 TCGA-JV-A75J-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9003f7a7-91de-4a5f-b63b-e2c6da70f128 dfb9bea3-cc77-42ff-b489-c40d0c923396 15 93558113 93558113 C A SNP CHD2 ENST00000557381 human ensembl 74_37 +1 putative missense c.4880 p.P1627H 1.000 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD2 HGNC ENSG00000173575 tier1 - - 29 0 0.00 46 4 8.00 242 0 0.00 153 2 1.29