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 RTN3 0 genome.wustl.edu 37 11 63525788 63525788 + Frame_Shift_Del DEL T T - TCGA-DX-A23U-01A-11D-A26G-09 TCGA-DX-A23U-10A-01D-A26G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 571ba70b-dd96-423d-bd14-2160fe033925 0d978ebb-cdad-48a2-bc30-1d9abdd6e645 11 63525788 63525788 T - DEL RTN3 ENST00000354497 human ensembl 74_37 +1 putative frame_shift_del c.570 p.L193fs 0.998 NULL pfam_Reticulon,pfscan_Reticulon - no_errors RTN3 HGNC ENSG00000133318 tier1 28 0 0.00 23 2 8.00 GYPB 0 genome.wustl.edu 37 4 144917363 144917363 + R SNP G G T TCGA-DX-A23U-01A-11D-A26G-09 TCGA-DX-A23U-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 571ba70b-dd96-423d-bd14-2160fe033925 0d978ebb-cdad-48a2-bc30-1d9abdd6e645 4 144917363 144917363 G T SNP GYPB ENST00000507009 human ensembl 74_37 -1 known rna NULL NULL 0.006 - - - no_errors GYPB HGNC ENSG00000250361 tier1 - - 18 0 0.00 21 7 25.00 BAZ2B 0 genome.wustl.edu 37 2 160317645 160317645 + R DEL T T - TCGA-DX-A23U-01A-11D-A26G-09 TCGA-DX-A23U-10A-01D-A26G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 571ba70b-dd96-423d-bd14-2160fe033925 0d978ebb-cdad-48a2-bc30-1d9abdd6e645 2 160317645 160317645 T - DEL BAZ2B ENST00000483316 human ensembl 74_37 -1 known rna NULL NULL 0.155 - - - no_errors BAZ2B HGNC ENSG00000123636 tier1 12 0 0.00 11 4 26.67 EML5 0 genome.wustl.edu 37 14 89168805 89168805 + Silent SNP G G A TCGA-DX-A23U-01A-11D-A26G-09 TCGA-DX-A23U-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 571ba70b-dd96-423d-bd14-2160fe033925 0d978ebb-cdad-48a2-bc30-1d9abdd6e645 14 89168805 89168805 G A SNP EML5 ENST00000554922 human ensembl 74_37 -1 known silent c.2223 p.Y741 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_HELP,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML5 HGNC ENSG00000165521 tier1 - - 34 0 0.00 15 17 53.12 C1orf131 0 genome.wustl.edu 37 1 231376805 231376805 + Missense_Mutation SNP A A C TCGA-DX-A23U-01A-11D-A26G-09 TCGA-DX-A23U-10A-01D-A26G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 571ba70b-dd96-423d-bd14-2160fe033925 0d978ebb-cdad-48a2-bc30-1d9abdd6e645 1 231376805 231376805 A C SNP C1orf131 ENST00000366649 human ensembl 74_37 -1 known missense c.83 p.L28R 0.003 NULL NULL - no_errors C1orf131 HGNC ENSG00000143633 tier1 - - 37 0 0.00 32 12 27.27 GEN1 0 genome.wustl.edu 37 2 17962994 17962998 + Frame_Shift_Del DEL AAGTT AAGTT - TCGA-DX-A23U-01A-11D-A26G-09 TCGA-DX-A23U-10A-01D-A26G-09 AAGTT AAGTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 571ba70b-dd96-423d-bd14-2160fe033925 0d978ebb-cdad-48a2-bc30-1d9abdd6e645 2 17962994 17962998 AAGTT - DEL GEN1 ENST00000317402 human ensembl 74_37 +1 known frame_shift_del c.2515_2519 p.K839fs 0.019:0.011:0.000:0.000:0.000 NULL pfam_XPG-I_dom,pfam_XPG_D_repair_N,superfamily_5-3_exonuclease_C,smart_XPG_D_repair_N,smart_XPG-I_dom,smart_HhH2,prints_XPG/Rad2 - no_errors GEN1 HGNC ENSG00000178295 tier1 ENSG00000205215 0 genome.wustl.edu 37 17 20424277 20424277 + R SNP G G T TCGA-DX-A23U-01A-11D-A26G-09 TCGA-DX-A23U-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 571ba70b-dd96-423d-bd14-2160fe033925 0d978ebb-cdad-48a2-bc30-1d9abdd6e645 17 20424277 20424277 G T SNP ENSG00000205215 ENST00000582261 human ensembl 74_37 -1 known rna NULL NULL 0.706 - - - no_errors AC015818.3 Clone_based_vega_gene ENSG00000205215 tier1 - - 73 0 0.00 55 20 26.67 PAGE5 0 genome.wustl.edu 37 X 55248262 55248262 + Silent SNP T T A TCGA-DX-A23U-01A-11D-A26G-09 TCGA-DX-A23U-10A-01D-A26G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 571ba70b-dd96-423d-bd14-2160fe033925 0d978ebb-cdad-48a2-bc30-1d9abdd6e645 X 55248262 55248262 T A SNP PAGE5 ENST00000289619 human ensembl 74_37 +1 known silent c.204 p.I68 0.004 pfam_GAGE pfam_GAGE - no_errors PAGE5 HGNC ENSG00000158639 tier1 - - 27 0 0.00 17 24 58.54 CDO1 0 genome.wustl.edu 37 5 115151960 115151960 + Silent SNP G G A TCGA-DX-A23U-01A-11D-A26G-09 TCGA-DX-A23U-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 571ba70b-dd96-423d-bd14-2160fe033925 0d978ebb-cdad-48a2-bc30-1d9abdd6e645 5 115151960 115151960 G A SNP CDO1 ENST00000250535 human ensembl 74_37 -1 known silent c.135 p.T45 0.998 pfam_Cys_dOase_I,superfamily_RmlC_Cupin pfam_Cys_dOase_I,pfam_Cysteamine_dioxygenase,superfamily_RmlC_Cupin - no_errors CDO1 HGNC ENSG00000129596 tier1 rs199673192 - 29 0 0.00 18 11 37.93 RPL29P2 0 genome.wustl.edu 37 17 7658285 7658285 + R DEL A A - TCGA-DX-A23U-01A-11D-A26G-09 TCGA-DX-A23U-10A-01D-A26G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 571ba70b-dd96-423d-bd14-2160fe033925 0d978ebb-cdad-48a2-bc30-1d9abdd6e645 17 7658285 7658285 A - DEL RPL29P2 ENST00000498671 human ensembl 74_37 +1 known rna NULL NULL 0.020 - - - no_errors RPL29P2 HGNC ENSG00000240480 tier1 9 0 0.00 21 3 12.50 EXO1 0 genome.wustl.edu 37 1 242030309 242030309 + Frame_Shift_Del DEL G G - TCGA-DX-A23U-01A-11D-A26G-09 TCGA-DX-A23U-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 571ba70b-dd96-423d-bd14-2160fe033925 0d978ebb-cdad-48a2-bc30-1d9abdd6e645 1 242030309 242030309 G - DEL EXO1 ENST00000348581 human ensembl 74_37 +1 known frame_shift_del c.1219 p.L408fs 0.896 NULL pfam_XPG-I_dom,pfam_XPG_D_repair_N,superfamily_5-3_exonuclease_C,smart_XPG_D_repair_N,smart_XPG-I_dom,smart_HhH2,prints_XPG/Rad2 - no_errors EXO1 HGNC ENSG00000174371 tier1 28 0 0.00 19 5 20.83 ANTXRLP1 0 genome.wustl.edu 37 10 47640774 47640792 + R DEL AAGCTGAGTGTTGGGAGAG AAGCTGAGTGTTGGGAGAG - TCGA-DX-A23U-01A-11D-A26G-09 TCGA-DX-A23U-10A-01D-A26G-09 AAGCTGAGTGTTGGGAGAG AAGCTGAGTGTTGGGAGAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 571ba70b-dd96-423d-bd14-2160fe033925 0d978ebb-cdad-48a2-bc30-1d9abdd6e645 10 47640774 47640792 AAGCTGAGTGTTGGGAGAG - DEL ANTXRLP1 ENST00000454837 human ensembl 74_37 -1 known rna NULL NULL 0.069:0.070:0.070:0.070:0.068:0.065:0.062:0.057:0.052:0.046:0.038:0.038:0.038:0.036:0.034:0.031:0.027:0.022:0.016 - - - no_errors ANTXRLP1 HGNC ENSG00000243536 tier1 ENSG00000269688 0 genome.wustl.edu 37 19 39335855 39335856 + R INS - - CCTGGCCAACAACCTGAAACCAC TCGA-DX-A23U-01A-11D-A26G-09 TCGA-DX-A23U-10A-01D-A26G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 571ba70b-dd96-423d-bd14-2160fe033925 0d978ebb-cdad-48a2-bc30-1d9abdd6e645 19 39335855 39335856 - CCTGGCCAACAACCTGAAACCAC INS ENSG00000269688 ENST00000600473 human ensembl 74_37 -1 known rna NULL NULL 0.003:0.002 - - - no_errors AC008982.2 Clone_based_vega_gene ENSG00000269688 tier1 ENSG00000272485 0 genome.wustl.edu 37 6 775405 775445 + R DEL CCGTGCCCACATTCCTGCAGTGCGTCTGAGGTTTTGGATCC CCGTGCCCACATTCCTGCAGTGCGTCTGAGGTTTTGGATCC - TCGA-DX-A23U-01A-11D-A26G-09 TCGA-DX-A23U-10A-01D-A26G-09 CCGTGCCCACATTCCTGCAGTGCGTCTGAGGTTTTGGATCC CCGTGCCCACATTCCTGCAGTGCGTCTGAGGTTTTGGATCC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 571ba70b-dd96-423d-bd14-2160fe033925 0d978ebb-cdad-48a2-bc30-1d9abdd6e645 6 775405 775445 CCGTGCCCACATTCCTGCAGTGCGTCTGAGGTTTTGGATCC - DEL ENSG00000272485 ENST00000606622 human ensembl 74_37 -1 known rna NULL NULL 0.012:0.012:0.016:0.020:0.024:0.027:0.030:0.032:0.034:0.035:0.037:0.037:0.038:0.038:0.037:0.037:0.035:0.034:0.031:0.028:0.025:0.021:0.017:0.012:0.011:0.011:0.009:0.007:0.005:0.000:0.001:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000 - - - no_errors RP11-284J1.1 Clone_based_vega_gene ENSG00000272485 tier1 ABCB7 0 genome.wustl.edu 37 X 74293529 74293529 + Missense_Mutation SNP C C A TCGA-DX-A23U-01A-11D-A26G-09 TCGA-DX-A23U-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 571ba70b-dd96-423d-bd14-2160fe033925 0d978ebb-cdad-48a2-bc30-1d9abdd6e645 X 74293529 74293529 C A SNP ABCB7 ENST00000253577 human ensembl 74_37 -1 known missense c.1030 p.V344L 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB7 HGNC ENSG00000131269 tier1 - - 21 0 0.00 6 10 62.50 OR2A12 0 genome.wustl.edu 37 7 143792436 143792436 + Missense_Mutation SNP A A C TCGA-DX-A23U-01A-11D-A26G-09 TCGA-DX-A23U-10A-01D-A26G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 571ba70b-dd96-423d-bd14-2160fe033925 0d978ebb-cdad-48a2-bc30-1d9abdd6e645 7 143792436 143792436 A C SNP OR2A12 ENST00000408949 human ensembl 74_37 +1 known missense c.236 p.K79T 0.946 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2A12 HGNC ENSG00000221858 tier1 - - 48 0 0.00 43 8 15.69 COL6A5 0 genome.wustl.edu 37 3 130162343 130162343 + Missense_Mutation SNP C C T TCGA-DX-A23U-01A-11D-A26G-09 TCGA-DX-A23U-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 571ba70b-dd96-423d-bd14-2160fe033925 0d978ebb-cdad-48a2-bc30-1d9abdd6e645 3 130162343 130162343 C T SNP COL6A5 ENST00000265379 human ensembl 74_37 +1 known missense c.6511 p.P2171S 0.031 NULL pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A5 HGNC ENSG00000172752 tier1 - - 29 0 0.00 26 15 36.59 LRP1B 0 genome.wustl.edu 37 2 141598583 141598583 + Missense_Mutation SNP G G A TCGA-DX-A23U-01A-11D-A26G-09 TCGA-DX-A23U-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 571ba70b-dd96-423d-bd14-2160fe033925 0d978ebb-cdad-48a2-bc30-1d9abdd6e645 2 141598583 141598583 G A SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.5018 p.T1673M 1.000 smart_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 tier1 rs199519370 - 64 0 0.00 35 21 37.50 CHDH 0 genome.wustl.edu 37 3 53857426 53857426 + Missense_Mutation SNP C C T TCGA-DX-A23U-01A-11D-A26G-09 TCGA-DX-A23U-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 571ba70b-dd96-423d-bd14-2160fe033925 0d978ebb-cdad-48a2-bc30-1d9abdd6e645 3 53857426 53857426 C T SNP CHDH ENST00000315251 human ensembl 74_37 -1 known missense c.610 p.E204K 0.998 pfam_GMC_OxRdtase_N,pirsf_GMC_OxRdtase pfam_GMC_OxRdtase_N,pfam_GMC_OxRtase_C,pirsf_GMC_OxRdtase - no_errors CHDH HGNC ENSG00000016391 tier1 - - 57 0 0.00 22 11 33.33 CD84 0 genome.wustl.edu 37 1 160520931 160520931 + R SNP G G A TCGA-DX-A23U-01A-11D-A26G-09 TCGA-DX-A23U-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 571ba70b-dd96-423d-bd14-2160fe033925 0d978ebb-cdad-48a2-bc30-1d9abdd6e645 1 160520931 160520931 G A SNP CD84 ENST00000466767 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CD84 HGNC ENSG00000066294 tier1 - - 31 0 0.00 169 23 11.92 NDN 0 genome.wustl.edu 37 15 23931596 23931596 + Missense_Mutation SNP C C T TCGA-DX-A23U-01A-11D-A26G-09 TCGA-DX-A23U-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 571ba70b-dd96-423d-bd14-2160fe033925 0d978ebb-cdad-48a2-bc30-1d9abdd6e645 15 23931596 23931596 C T SNP NDN ENST00000331837 human ensembl 74_37 -1 known missense c.769 p.E257K 0.055 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors NDN HGNC ENSG00000182636 tier1 - - 62 0 0.00 62 128 67.37 FAM230B 0 genome.wustl.edu 37 22 21538161 21538161 + R SNP C C T TCGA-DX-A23U-01A-11D-A26G-09 TCGA-DX-A23U-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 571ba70b-dd96-423d-bd14-2160fe033925 0d978ebb-cdad-48a2-bc30-1d9abdd6e645 22 21538161 21538161 C T SNP FAM230B ENST00000451257 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors FAM230B HGNC ENSG00000215498 tier1 rs111441301 - 42 0 0.00 23 4 14.81 PRKAB2 0 genome.wustl.edu 37 1 146638473 146638473 + Missense_Mutation SNP G G T TCGA-DX-A23U-01A-11D-A26G-09 TCGA-DX-A23U-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 571ba70b-dd96-423d-bd14-2160fe033925 0d978ebb-cdad-48a2-bc30-1d9abdd6e645 1 146638473 146638473 G T SNP PRKAB2 ENST00000254101 human ensembl 74_37 -1 known missense c.369 p.H123Q 1.000 superfamily_Ig_E-set pfam_AMP_prot_kin_bsu_interact-dom,superfamily_Ig_E-set - no_errors PRKAB2 HGNC ENSG00000131791 tier1 - - 38 0 0.00 23 3 11.54 DNHD1 0 genome.wustl.edu 37 11 6587557 6587557 + Missense_Mutation SNP C C T TCGA-DX-A23U-01A-11D-A26G-09 TCGA-DX-A23U-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 571ba70b-dd96-423d-bd14-2160fe033925 0d978ebb-cdad-48a2-bc30-1d9abdd6e645 11 6587557 6587557 C T SNP DNHD1 ENST00000254579 human ensembl 74_37 +1 known missense c.11140 p.P3714S 0.281 NULL pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom,superfamily_P-loop_NTPase,superfamily_t-SRE - no_errors DNHD1 HGNC ENSG00000179532 tier1 - - 37 0 0.00 27 23 46.00 MT-RNR2 0 genome.wustl.edu 37 MT 2226 2226 + R SNP T T C TCGA-DX-A23U-01A-11D-A26G-09 TCGA-DX-A23U-10A-01D-A26G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 571ba70b-dd96-423d-bd14-2160fe033925 0d978ebb-cdad-48a2-bc30-1d9abdd6e645 MT 2226 2226 T C SNP MT-RNR2 ENST00000387347 human ensembl 74_37 +1 known rna NULL NULL NULL - - - no_errors MT-RNR2 HGNC ENSG00000210082 tier1 - - 99 0 0.00 79 208 72.47 CD96 0 genome.wustl.edu 37 3 111342635 111342635 + Missense_Mutation SNP T T A TCGA-DX-A23U-01A-11D-A26G-09 TCGA-DX-A23U-10A-01D-A26G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 571ba70b-dd96-423d-bd14-2160fe033925 0d978ebb-cdad-48a2-bc30-1d9abdd6e645 3 111342635 111342635 T A SNP CD96 ENST00000283285 human ensembl 74_37 +1 known missense c.1263 p.D421E 0.004 NULL smart_Ig_sub,pfscan_Ig-like_dom - no_errors CD96 HGNC ENSG00000153283 tier1 - - 19 0 0.00 18 8 30.77 BRD7 0 genome.wustl.edu 37 16 50357558 50357558 + Silent SNP A A G TCGA-DX-A23U-01A-11D-A26G-09 TCGA-DX-A23U-10A-01D-A26G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 571ba70b-dd96-423d-bd14-2160fe033925 0d978ebb-cdad-48a2-bc30-1d9abdd6e645 16 50357558 50357558 A G SNP BRD7 ENST00000394689 human ensembl 74_37 -1 known silent c.1383 p.D461 0.919 pfam_DUF3512 pfam_DUF3512,pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors BRD7 HGNC ENSG00000166164 tier1 - - 54 0 0.00 42 21 33.33 FBN2 0 genome.wustl.edu 37 5 127712460 127712460 + Missense_Mutation SNP C C G TCGA-DX-A23U-01A-11D-A26G-09 TCGA-DX-A23U-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 571ba70b-dd96-423d-bd14-2160fe033925 0d978ebb-cdad-48a2-bc30-1d9abdd6e645 5 127712460 127712460 C G SNP FBN2 ENST00000262464 human ensembl 74_37 -1 known missense c.1936 p.G646R 1.000 pirsf_FBN,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pirsf_FBN,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors FBN2 HGNC ENSG00000138829 tier1 - - 36 0 0.00 23 10 30.30 COL5A1 0 genome.wustl.edu 37 9 137600586 137600586 + R SNP G G A TCGA-DX-A23U-01A-11D-A26G-09 TCGA-DX-A23U-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 571ba70b-dd96-423d-bd14-2160fe033925 0d978ebb-cdad-48a2-bc30-1d9abdd6e645 9 137600586 137600586 G A SNP COL5A1 ENST00000464187 human ensembl 74_37 +1 known rna NULL NULL 0.033 - - - no_errors COL5A1 HGNC ENSG00000130635 tier1 - - 36 0 0.00 35 11 23.91 KIAA1549 0 genome.wustl.edu 37 7 138554310 138554310 + Silent SNP G G A TCGA-DX-A23U-01A-11D-A26G-09 TCGA-DX-A23U-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 571ba70b-dd96-423d-bd14-2160fe033925 0d978ebb-cdad-48a2-bc30-1d9abdd6e645 7 138554310 138554310 G A SNP KIAA1549 ENST00000422774 human ensembl 74_37 -1 known silent c.4749 p.P1583 0.992 NULL NULL - no_errors KIAA1549 HGNC ENSG00000122778 tier1 - - 33 0 0.00 14 13 48.15 OR4S1 0 genome.wustl.edu 37 11 48327964 48327964 + Missense_Mutation SNP T T G TCGA-DX-A23U-01A-11D-A26G-09 TCGA-DX-A23U-10A-01D-A26G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 571ba70b-dd96-423d-bd14-2160fe033925 0d978ebb-cdad-48a2-bc30-1d9abdd6e645 11 48327964 48327964 T G SNP OR4S1 ENST00000319988 human ensembl 74_37 +1 known missense c.190 p.L64V 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4S1 HGNC ENSG00000176555 tier1 - - 68 0 0.00 65 7 9.72 PDE4DIP 0 genome.wustl.edu 37 1 144879468 144879468 + Missense_Mutation SNP C C T TCGA-DX-A23U-01A-11D-A26G-09 TCGA-DX-A23U-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 571ba70b-dd96-423d-bd14-2160fe033925 0d978ebb-cdad-48a2-bc30-1d9abdd6e645 1 144879468 144879468 C T SNP PDE4DIP ENST00000369356 human ensembl 74_37 -1 known missense c.3982 p.E1328K 0.000 NULL pfam_Spindle_assoc,superfamily_ARM-type_fold - no_errors PDE4DIP HGNC ENSG00000178104 tier1 - - 148 0 0.00 111 20 15.27 GCNT6 0 genome.wustl.edu 37 6 10634162 10634162 + Missense_Mutation SNP G G C TCGA-DX-A23U-01A-11D-A26G-09 TCGA-DX-A23U-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 571ba70b-dd96-423d-bd14-2160fe033925 0d978ebb-cdad-48a2-bc30-1d9abdd6e645 6 10634162 10634162 G C SNP GCNT6 ENST00000417671 human ensembl 74_37 +1 known missense c.170 p.G57A 0.015 NULL pfam_Glyco_trans_14 - no_errors GCNT6 HGNC ENSG00000205318 tier1 - - 36 0 0.00 20 7 25.93 LRP1B 0 genome.wustl.edu 37 2 141004703 141004703 + Missense_Mutation SNP A A G TCGA-DX-A23U-01A-11D-A26G-09 TCGA-DX-A23U-10A-01D-A26G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 571ba70b-dd96-423d-bd14-2160fe033925 0d978ebb-cdad-48a2-bc30-1d9abdd6e645 2 141004703 141004703 A G SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.13276 p.C4426R 1.000 smart_EG-like_dom,pfscan_EG-like_dom pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 tier1 - - 34 0 0.00 15 10 40.00 NXPH1 0 genome.wustl.edu 37 7 8791537 8791537 + R SNP C C T TCGA-DX-A23U-01A-11D-A26G-09 TCGA-DX-A23U-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 571ba70b-dd96-423d-bd14-2160fe033925 0d978ebb-cdad-48a2-bc30-1d9abdd6e645 7 8791537 8791537 C T SNP NXPH1 ENST00000497400 human ensembl 74_37 +1 known rna NULL NULL 0.797 - - - no_errors NXPH1 HGNC ENSG00000122584 tier1 - - 21 0 0.00 58 9 13.43 STRN3 0 genome.wustl.edu 37 14 31364784 31364784 + Missense_Mutation SNP G G A TCGA-DX-A23U-01A-11D-A26G-09 TCGA-DX-A23U-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 571ba70b-dd96-423d-bd14-2160fe033925 0d978ebb-cdad-48a2-bc30-1d9abdd6e645 14 31364784 31364784 G A SNP STRN3 ENST00000357479 human ensembl 74_37 -1 known missense c.2227 p.H743Y 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_Striatin_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors STRN3 HGNC ENSG00000196792 tier1 - - 45 0 0.00 33 15 31.25 CLPB 0 genome.wustl.edu 37 11 72091328 72091328 + Missense_Mutation SNP C C T TCGA-DX-A23U-01A-11D-A26G-09 TCGA-DX-A23U-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 571ba70b-dd96-423d-bd14-2160fe033925 0d978ebb-cdad-48a2-bc30-1d9abdd6e645 11 72091328 72091328 C T SNP CLPB ENST00000294053 human ensembl 74_37 -1 known missense c.643 p.E215K 1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_ATPase_AAA-2,pfam_Ankyrin_rpt,pfam_Clp_ATPase_C,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,pfam_Zeta_toxin_domain,pfam_Sigma_54_int,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_AAA+_ATPase,prints_ClpA/B,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors CLPB HGNC ENSG00000162129 tier1 - - 35 0 0.00 13 10 43.48 COL11A1 0 genome.wustl.edu 37 1 103345239 103345239 + Silent SNP C C T TCGA-DX-A23U-01A-11D-A26G-09 TCGA-DX-A23U-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 571ba70b-dd96-423d-bd14-2160fe033925 0d978ebb-cdad-48a2-bc30-1d9abdd6e645 1 103345239 103345239 C T SNP COL11A1 ENST00000358392 human ensembl 74_37 -1 known silent c.5310 p.A1770 0.998 pfam_Fib_collagen_C,smart_Fib_collagen_C pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL11A1 HGNC ENSG00000060718 tier1 - - 36 0 0.00 36 4 10.00 LMF1 0 genome.wustl.edu 37 16 1025977 1025978 + R INS - - CAAGGAGCCTCATGAACTCTGTGGACATT TCGA-DX-A23U-01A-11D-A26G-09 TCGA-DX-A23U-10A-01D-A26G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 571ba70b-dd96-423d-bd14-2160fe033925 0d978ebb-cdad-48a2-bc30-1d9abdd6e645 16 1025977 1025978 - CAAGGAGCCTCATGAACTCTGTGGACATT INS LMF1 ENST00000562570 human ensembl 74_37 -1 known rna NULL NULL 0.005:0.013 - - - no_errors RP11-161M6.2 Clone_based_vega_gene ENSG00000260807 tier1 COL6A3 0 genome.wustl.edu 37 2 238285620 238285620 + Silent SNP A A T TCGA-DX-A23U-01A-11D-A26G-09 TCGA-DX-A23U-10A-01D-A26G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 571ba70b-dd96-423d-bd14-2160fe033925 0d978ebb-cdad-48a2-bc30-1d9abdd6e645 2 238285620 238285620 A T SNP COL6A3 ENST00000295550 human ensembl 74_37 -1 known silent c.2865 p.R955 0.001 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL6A3 HGNC ENSG00000163359 tier1 - - 36 0 0.00 29 13 30.95 GGA2 0 genome.wustl.edu 37 16 23499974 23499974 + Missense_Mutation SNP G G A TCGA-DX-A23U-01A-11D-A26G-09 TCGA-DX-A23U-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 571ba70b-dd96-423d-bd14-2160fe033925 0d978ebb-cdad-48a2-bc30-1d9abdd6e645 16 23499974 23499974 G A SNP GGA2 ENST00000309859 human ensembl 74_37 -1 known missense c.532 p.P178S 1.000 NULL pfam_VHS,pfam_GAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ENTH_VHS,superfamily_Coatomer/clathrin_app_Ig-like,smart_VHS_subgr,smart_Clathrin_a/b/g-adaptin_app_Ig,pfscan_Clathrin_g-adaptin_app,pfscan_GAT,pfscan_VHS - no_errors GGA2 HGNC ENSG00000103365 tier1 - - 70 0 0.00 81 26 24.30 KIAA0125 0 genome.wustl.edu 37 14 106391170 106391170 + R SNP T T C TCGA-DX-A23U-01A-11D-A26G-09 TCGA-DX-A23U-10A-01D-A26G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 571ba70b-dd96-423d-bd14-2160fe033925 0d978ebb-cdad-48a2-bc30-1d9abdd6e645 14 106391170 106391170 T C SNP KIAA0125 ENST00000482999 human ensembl 74_37 +1 known rna NULL NULL 0.246 - - - no_errors KIAA0125 HGNC ENSG00000226777 tier1 - - 114 0 0.00 82 49 37.40 ETV3 0 genome.wustl.edu 37 1 157105270 157105270 + Missense_Mutation SNP C C T TCGA-DX-A23U-01A-11D-A26G-09 TCGA-DX-A23U-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 571ba70b-dd96-423d-bd14-2160fe033925 0d978ebb-cdad-48a2-bc30-1d9abdd6e645 1 157105270 157105270 C T SNP ETV3 ENST00000368192 human ensembl 74_37 -1 known missense c.277 p.A93T 1.000 pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ETV3 HGNC ENSG00000117036 tier1 - - 60 0 0.00 65 364 84.65 MAP7D3 0 genome.wustl.edu 37 X 135318413 135318413 + Silent SNP C C T TCGA-DX-A23U-01A-11D-A26G-09 TCGA-DX-A23U-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 571ba70b-dd96-423d-bd14-2160fe033925 0d978ebb-cdad-48a2-bc30-1d9abdd6e645 X 135318413 135318413 C T SNP MAP7D3 ENST00000370663 human ensembl 74_37 -1 known silent c.672 p.R224 0.000 NULL pfam_MAP7 - no_errors MAP7D3 HGNC ENSG00000129680 tier1 - - 52 0 0.00 20 35 63.64 PSME4 0 genome.wustl.edu 37 2 54092486 54092486 + R DEL A A - TCGA-DX-A23U-01A-11D-A26G-09 TCGA-DX-A23U-10A-01D-A26G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 571ba70b-dd96-423d-bd14-2160fe033925 0d978ebb-cdad-48a2-bc30-1d9abdd6e645 2 54092486 54092486 A - DEL PSME4 ENST00000476586 human ensembl 74_37 -1 known rna NULL NULL 0.998 - - - no_errors PSME4 HGNC ENSG00000068878 tier1 11 0 0.00 21 2 8.70 ATP2B4 0 genome.wustl.edu 37 1 203680135 203680135 + Missense_Mutation SNP G G A TCGA-DX-A23U-01A-11D-A26G-09 TCGA-DX-A23U-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 571ba70b-dd96-423d-bd14-2160fe033925 0d978ebb-cdad-48a2-bc30-1d9abdd6e645 1 203680135 203680135 G A SNP ATP2B4 ENST00000357681 human ensembl 74_37 +1 known missense c.1930 p.D644N 1.000 superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Ca-transp_plasma pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2B4 HGNC ENSG00000058668 tier1 - - 33 0 0.00 36 106 74.65 ATP8B3 0 genome.wustl.edu 37 19 1799764 1799764 + Frame_Shift_Del DEL A A - TCGA-DX-A23U-01A-11D-A26G-09 TCGA-DX-A23U-10A-01D-A26G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 571ba70b-dd96-423d-bd14-2160fe033925 0d978ebb-cdad-48a2-bc30-1d9abdd6e645 19 1799764 1799764 A - DEL ATP8B3 ENST00000526092 human ensembl 74_37 -1 putative frame_shift_del c.1575 p.F525fs 0.016 NULL pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom - no_errors ATP8B3 HGNC ENSG00000130270 tier1 11 0 0.00 15 4 21.05 MROH2B 0 genome.wustl.edu 37 5 41007433 41007433 + Silent SNP G G A TCGA-DX-A23U-01A-11D-A26G-09 TCGA-DX-A23U-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 571ba70b-dd96-423d-bd14-2160fe033925 0d978ebb-cdad-48a2-bc30-1d9abdd6e645 5 41007433 41007433 G A SNP MROH2B ENST00000399564 human ensembl 74_37 -1 known silent c.3732 p.G1244 0.957 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MROH2B HGNC ENSG00000171495 tier1 - - 107 0 0.00 51 28 35.44 NBPF9 0 genome.wustl.edu 37 1 144826711 144826711 + R SNP T T C TCGA-DX-A23U-01A-11D-A26G-09 TCGA-DX-A23U-10A-01D-A26G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 571ba70b-dd96-423d-bd14-2160fe033925 0d978ebb-cdad-48a2-bc30-1d9abdd6e645 1 144826711 144826711 T C SNP NBPF9 ENST00000488888 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors NBPF9 HGNC ENSG00000168614 tier1 - - 28 0 0.00 63 13 17.11 TTYH3 0 genome.wustl.edu 37 7 2696139 2696139 + Silent SNP C C T TCGA-DX-A23U-01A-11D-A26G-09 TCGA-DX-A23U-10A-01D-A26G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 571ba70b-dd96-423d-bd14-2160fe033925 0d978ebb-cdad-48a2-bc30-1d9abdd6e645 7 2696139 2696139 C T SNP TTYH3 ENST00000258796 human ensembl 74_37 +1 known silent c.1221 p.C407 1.000 pfam_Tweety pfam_Tweety - no_errors TTYH3 HGNC ENSG00000136295 tier1 rs200862283 - 42 0 0.00 79 9 10.23 ATP2B4 0 genome.wustl.edu 37 1 203680134 203680134 + Silent SNP G G A TCGA-DX-A23U-01A-11D-A26G-09 TCGA-DX-A23U-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 571ba70b-dd96-423d-bd14-2160fe033925 0d978ebb-cdad-48a2-bc30-1d9abdd6e645 1 203680134 203680134 G A SNP ATP2B4 ENST00000357681 human ensembl 74_37 +1 known silent c.1929 p.R643 0.997 superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Ca-transp_plasma pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2B4 HGNC ENSG00000058668 tier1 - - 32 0 0.00 36 107 74.83 ENSG00000268081 0 genome.wustl.edu 37 19 21752033 21752033 + R DEL G G - TCGA-DX-A23U-01A-11D-A26G-09 TCGA-DX-A23U-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 571ba70b-dd96-423d-bd14-2160fe033925 0d978ebb-cdad-48a2-bc30-1d9abdd6e645 19 21752033 21752033 G - DEL ENSG00000268081 ENST00000594564 human ensembl 74_37 -1 known rna NULL NULL 0.040 - - - no_errors RP11-678G14.2 Clone_based_vega_gene ENSG00000268081 tier1 63 0 0.00 56 12 17.65 DDX24 0 genome.wustl.edu 37 14 94517533 94517534 + R INS - - CACGG TCGA-DX-A23U-01A-11D-A26G-09 TCGA-DX-A23U-10A-01D-A26G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 571ba70b-dd96-423d-bd14-2160fe033925 0d978ebb-cdad-48a2-bc30-1d9abdd6e645 14 94517533 94517534 - CACGG INS DDX24 ENST00000553400 human ensembl 74_37 -1 putative rna NULL NULL 0.000:0.000 - - - no_errors DDX24 HGNC ENSG00000089737 tier1 N4BP2 0 genome.wustl.edu 37 4 40099030 40099030 + Missense_Mutation SNP G G A TCGA-DX-A23U-01A-11D-A26G-09 TCGA-DX-A23U-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 571ba70b-dd96-423d-bd14-2160fe033925 0d978ebb-cdad-48a2-bc30-1d9abdd6e645 4 40099030 40099030 G A SNP N4BP2 ENST00000261435 human ensembl 74_37 +1 known missense c.70 p.V24I 0.035 NULL pfam_DUF1771,pfam_Smr/MutS2_C,superfamily_P-loop_NTPase,superfamily_UBA-like,smart_Smr/MutS2_C,pfscan_CUE,pfscan_Smr/MutS2_C - no_errors N4BP2 HGNC ENSG00000078177 tier1 - - 33 0 0.00 29 11 27.50