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 HRNR 0 genome.wustl.edu 37 1 152186100 152186100 + Missense_Mutation SNP C C T TCGA-MB-A8JL-01A-11D-A36J-09 TCGA-MB-A8JL-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 0476440f-78db-40fe-a45e-5c5e3e44bc03 3e532fd9-8d4e-4826-8969-6d5699e774ff 1 152186100 152186100 C T SNP HRNR ENST00000368801 human ensembl 74_37 -1 known missense c.8005 p.G2669S 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors HRNR HGNC ENSG00000197915 tier1 rs142956706 - 73 0 0.00 42 29 40.85 CHD3 0 genome.wustl.edu 37 17 7793747 7793748 + R INS - - A TCGA-MB-A8JL-01A-11D-A36J-09 TCGA-MB-A8JL-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 0476440f-78db-40fe-a45e-5c5e3e44bc03 3e532fd9-8d4e-4826-8969-6d5699e774ff 17 7793747 7793748 - A INS CHD3 ENST00000574022 human ensembl 74_37 +1 known rna NULL NULL 0.217:0.454 - - - no_errors CHD3 HGNC ENSG00000170004 tier1 12 0 0.00 5 3 37.50 HRNR 0 genome.wustl.edu 37 1 152185905 152185905 + Missense_Mutation SNP C C G TCGA-MB-A8JL-01A-11D-A36J-09 TCGA-MB-A8JL-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 0476440f-78db-40fe-a45e-5c5e3e44bc03 3e532fd9-8d4e-4826-8969-6d5699e774ff 1 152185905 152185905 C G SNP HRNR ENST00000368801 human ensembl 74_37 -1 known missense c.8200 p.D2734H 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors HRNR HGNC ENSG00000197915 tier1 - - 11 0 0.00 7 8 53.33 OGDHL 0 genome.wustl.edu 37 10 50944187 50944187 + Missense_Mutation SNP C C T TCGA-MB-A8JL-01A-11D-A36J-09 TCGA-MB-A8JL-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 0476440f-78db-40fe-a45e-5c5e3e44bc03 3e532fd9-8d4e-4826-8969-6d5699e774ff 10 50944187 50944187 C T SNP OGDHL ENST00000374103 human ensembl 74_37 -1 known missense c.2791 p.A931T 1.000 pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 pfam_DH_E1,pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 - no_errors OGDHL HGNC ENSG00000197444 tier1 - - 25 0 0.00 12 9 42.86 TACC2 0 genome.wustl.edu 37 10 123970007 123970007 + Missense_Mutation SNP G G A TCGA-MB-A8JL-01A-11D-A36J-09 TCGA-MB-A8JL-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 0476440f-78db-40fe-a45e-5c5e3e44bc03 3e532fd9-8d4e-4826-8969-6d5699e774ff 10 123970007 123970007 G A SNP TACC2 ENST00000334433 human ensembl 74_37 +1 known missense c.6067 p.V2023I 1.000 NULL pfam_TACC - no_errors TACC2 HGNC ENSG00000138162 tier1 - - 23 0 0.00 21 13 37.14 ENSG00000179253 0 genome.wustl.edu 37 20 60294111 60294112 + Frame_Shift_Del DEL CT CT - TCGA-MB-A8JL-01A-11D-A36J-09 TCGA-MB-A8JL-10A-01D-A36M-09 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 0476440f-78db-40fe-a45e-5c5e3e44bc03 3e532fd9-8d4e-4826-8969-6d5699e774ff 20 60294111 60294112 CT - DEL ENSG00000179253 ENST00000317652 human ensembl 74_37 -1 known frame_shift_del c.116_115 p.S39fs 0.000:0.000 NULL NULL - no_errors RP11-429E11.3 Clone_based_vega_gene ENSG00000179253 tier1 46 0 0.00 12 24 66.67 LINC00461 0 genome.wustl.edu 37 5 87963196 87963197 + R INS - - A TCGA-MB-A8JL-01A-11D-A36J-09 TCGA-MB-A8JL-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 0476440f-78db-40fe-a45e-5c5e3e44bc03 3e532fd9-8d4e-4826-8969-6d5699e774ff 5 87963196 87963197 - A INS LINC00461 ENST00000500197 human ensembl 74_37 -1 known rna NULL NULL 0.454:0.030 - - - no_errors LINC00461 HGNC ENSG00000245526 tier1 37 0 0.00 27 3 10.00 OR2AT4 0 genome.wustl.edu 37 11 74799812 74799812 + Missense_Mutation SNP C C T TCGA-MB-A8JL-01A-11D-A36J-09 TCGA-MB-A8JL-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 0476440f-78db-40fe-a45e-5c5e3e44bc03 3e532fd9-8d4e-4826-8969-6d5699e774ff 11 74799812 74799812 C T SNP OR2AT4 ENST00000305159 human ensembl 74_37 -1 known missense c.947 p.C316Y 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Olfact_rcpt - no_errors OR2AT4 HGNC ENSG00000171561 tier1 - - 63 0 0.00 55 29 34.52 SMG5 0 genome.wustl.edu 37 1 156231177 156231177 + Missense_Mutation SNP C C A TCGA-MB-A8JL-01A-11D-A36J-09 TCGA-MB-A8JL-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 0476440f-78db-40fe-a45e-5c5e3e44bc03 3e532fd9-8d4e-4826-8969-6d5699e774ff 1 156231177 156231177 C A SNP SMG5 ENST00000361813 human ensembl 74_37 -1 known missense c.2054 p.R685L 1.000 NULL pfam_EST1,smart_PIN_dom - no_errors SMG5 HGNC ENSG00000198952 tier1 - - 52 0 0.00 38 36 47.37 ENSG00000257434 0 genome.wustl.edu 37 12 75435986 75435987 + R INS - - T TCGA-MB-A8JL-01A-11D-A36J-09 TCGA-MB-A8JL-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 0476440f-78db-40fe-a45e-5c5e3e44bc03 3e532fd9-8d4e-4826-8969-6d5699e774ff 12 75435986 75435987 - T INS ENSG00000257434 ENST00000547040 human ensembl 74_37 +1 known rna NULL NULL 0.003:0.005 - - - no_errors RP11-81K13.1 Clone_based_vega_gene ENSG00000257434 tier1 22 0 0.00 21 3 12.50 ZNF521 0 genome.wustl.edu 37 18 22805728 22805728 + Silent SNP G G T TCGA-MB-A8JL-01A-11D-A36J-09 TCGA-MB-A8JL-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 0476440f-78db-40fe-a45e-5c5e3e44bc03 3e532fd9-8d4e-4826-8969-6d5699e774ff 18 22805728 22805728 G T SNP ZNF521 ENST00000361524 human ensembl 74_37 -1 known silent c.2154 p.T718 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF521 HGNC ENSG00000198795 tier1 - - 43 0 0.00 43 4 8.51 HRNR 0 genome.wustl.edu 37 1 152188496 152188496 + Missense_Mutation SNP C C T TCGA-MB-A8JL-01A-11D-A36J-09 TCGA-MB-A8JL-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 0476440f-78db-40fe-a45e-5c5e3e44bc03 3e532fd9-8d4e-4826-8969-6d5699e774ff 1 152188496 152188496 C T SNP HRNR ENST00000368801 human ensembl 74_37 -1 known missense c.5609 p.G1870E 0.001 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors HRNR HGNC ENSG00000197915 tier1 - - 589 1 0.17 588 62 9.54 TNRC18 0 genome.wustl.edu 37 7 5417646 5417646 + Missense_Mutation SNP C C A TCGA-MB-A8JL-01A-11D-A36J-09 TCGA-MB-A8JL-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 0476440f-78db-40fe-a45e-5c5e3e44bc03 3e532fd9-8d4e-4826-8969-6d5699e774ff 7 5417646 5417646 C A SNP TNRC18 ENST00000399537 human ensembl 74_37 -1 known missense c.2162 p.R721L 0.726 NULL pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors TNRC18 HGNC ENSG00000182095 tier1 - - 20 0 0.00 16 10 37.04 RPLP2 0 genome.wustl.edu 37 11 810010 810018 + R DEL CTCCGCCGC CTCCGCCGC - TCGA-MB-A8JL-01A-11D-A36J-09 TCGA-MB-A8JL-10A-01D-A36M-09 CTCCGCCGC CTCCGCCGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 0476440f-78db-40fe-a45e-5c5e3e44bc03 3e532fd9-8d4e-4826-8969-6d5699e774ff 11 810010 810018 CTCCGCCGC - DEL RPLP2 ENST00000532004 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000:0.006:0.006:0.009:0.013:0.013:0.025:0.024 - - - no_errors RPLP2 HGNC ENSG00000177600 tier1 NLRP13 0 genome.wustl.edu 37 19 56416319 56416319 + Silent SNP T T C TCGA-MB-A8JL-01A-11D-A36J-09 TCGA-MB-A8JL-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 0476440f-78db-40fe-a45e-5c5e3e44bc03 3e532fd9-8d4e-4826-8969-6d5699e774ff 19 56416319 56416319 T C SNP NLRP13 ENST00000342929 human ensembl 74_37 -1 known silent c.2607 p.L869 0.000 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_CHT_NTPase,pfscan_DAPIN - no_errors NLRP13 HGNC ENSG00000173572 tier1 - - 52 0 0.00 30 16 34.78 CCDC54 0 genome.wustl.edu 37 3 107097189 107097189 + Missense_Mutation SNP C C A TCGA-MB-A8JL-01A-11D-A36J-09 TCGA-MB-A8JL-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 0476440f-78db-40fe-a45e-5c5e3e44bc03 3e532fd9-8d4e-4826-8969-6d5699e774ff 3 107097189 107097189 C A SNP CCDC54 ENST00000261058 human ensembl 74_37 +1 known missense c.755 p.T252N 1.000 NULL NULL - no_errors CCDC54 HGNC ENSG00000138483 tier1 - - 63 0 0.00 66 6 8.33 MAML3 0 genome.wustl.edu 37 4 140812037 140812037 + Missense_Mutation SNP A A G TCGA-MB-A8JL-01A-11D-A36J-09 TCGA-MB-A8JL-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 0476440f-78db-40fe-a45e-5c5e3e44bc03 3e532fd9-8d4e-4826-8969-6d5699e774ff 4 140812037 140812037 A G SNP MAML3 ENST00000509479 human ensembl 74_37 -1 known missense c.553 p.F185L 1.000 NULL pfam_Neuroggenic_mastermind-like_N - no_errors MAML3 HGNC ENSG00000196782 tier1 - - 47 0 0.00 35 23 39.66 ZNF285 0 genome.wustl.edu 37 19 44892206 44892206 + Silent SNP C C A TCGA-MB-A8JL-01A-11D-A36J-09 TCGA-MB-A8JL-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 0476440f-78db-40fe-a45e-5c5e3e44bc03 3e532fd9-8d4e-4826-8969-6d5699e774ff 19 44892206 44892206 C A SNP ZNF285 ENST00000330997 human ensembl 74_37 -1 known silent c.201 p.S67 0.000 pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF285 HGNC ENSG00000267508 tier1 rs73557001 - 34 0 0.00 49 8 14.04 SMPDL3B 0 genome.wustl.edu 37 1 28285146 28285146 + Missense_Mutation SNP C C A TCGA-MB-A8JL-01A-11D-A36J-09 TCGA-MB-A8JL-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 0476440f-78db-40fe-a45e-5c5e3e44bc03 3e532fd9-8d4e-4826-8969-6d5699e774ff 1 28285146 28285146 C A SNP SMPDL3B ENST00000373894 human ensembl 74_37 +1 known missense c.1165 p.L389M 0.782 pirsf_ASM-like_Pdiesterase_prd pfam_PEstase_dom,pirsf_ASM-like_Pdiesterase_prd - no_errors SMPDL3B HGNC ENSG00000130768 tier1 - - 20 0 0.00 10 12 54.55 CHODL 0 genome.wustl.edu 37 21 19629315 19629315 + Missense_Mutation SNP G G A TCGA-MB-A8JL-01A-11D-A36J-09 TCGA-MB-A8JL-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 0476440f-78db-40fe-a45e-5c5e3e44bc03 3e532fd9-8d4e-4826-8969-6d5699e774ff 21 19629315 19629315 G A SNP CHODL ENST00000299295 human ensembl 74_37 +1 known missense c.418 p.G140R 1.000 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CHODL HGNC ENSG00000154645 tier1 rs202176979 GMAF=0.0005 72 0 0.00 38 42 52.50 BRD8 0 genome.wustl.edu 37 5 137501727 137501727 + Missense_Mutation SNP G G T TCGA-MB-A8JL-01A-11D-A36J-09 TCGA-MB-A8JL-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 0476440f-78db-40fe-a45e-5c5e3e44bc03 3e532fd9-8d4e-4826-8969-6d5699e774ff 5 137501727 137501727 G T SNP BRD8 ENST00000254900 human ensembl 74_37 -1 known missense c.1068 p.D356E 1.000 NULL pfam_Bromodomain,superfamily_Bromodomain,superfamily_Peptidase_M20_dimer,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD8 HGNC ENSG00000112983 tier1 - - 67 0 0.00 45 4 8.16 FAM157A 0 genome.wustl.edu 37 3 197880164 197880164 + R SNP G G A TCGA-MB-A8JL-01A-11D-A36J-09 TCGA-MB-A8JL-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 0476440f-78db-40fe-a45e-5c5e3e44bc03 3e532fd9-8d4e-4826-8969-6d5699e774ff 3 197880164 197880164 G A SNP FAM157A ENST00000431569 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors FAM157A HGNC ENSG00000236438 tier1 - - 35 0 0.00 31 8 20.51 TP53 0 genome.wustl.edu 37 17 7577095 7577095 + Missense_Mutation SNP G G C TCGA-MB-A8JL-01A-11D-A36J-09 TCGA-MB-A8JL-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 0476440f-78db-40fe-a45e-5c5e3e44bc03 3e532fd9-8d4e-4826-8969-6d5699e774ff 17 7577095 7577095 G C SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.843 p.D281E 0.993 pfam_p53_D-bd,superfamily_p53-like_TF_D-bd,prints_p53_tumour_suppressor pfam_p53_D-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_D-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 - - 47 0 0.00 24 22 47.83 PDZD2 0 genome.wustl.edu 37 5 32089879 32089879 + Missense_Mutation SNP C C T TCGA-MB-A8JL-01A-11D-A36J-09 TCGA-MB-A8JL-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 0476440f-78db-40fe-a45e-5c5e3e44bc03 3e532fd9-8d4e-4826-8969-6d5699e774ff 5 32089879 32089879 C T SNP PDZD2 ENST00000282493 human ensembl 74_37 +1 known missense c.6325 p.P2109S 0.004 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD2 HGNC ENSG00000133401 tier1 - - 41 0 0.00 20 3 13.04 ENSG00000232274 0 genome.wustl.edu 37 1 143210651 143210651 + R SNP A A G TCGA-MB-A8JL-01A-11D-A36J-09 TCGA-MB-A8JL-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 0476440f-78db-40fe-a45e-5c5e3e44bc03 3e532fd9-8d4e-4826-8969-6d5699e774ff 1 143210651 143210651 A G SNP ENSG00000232274 ENST00000412204 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-782C8.2 Clone_based_vega_gene ENSG00000232274 tier1 - - 17 0 0.00 15 6 28.57 SLC30A5 0 genome.wustl.edu 37 5 68411962 68411962 + Missense_Mutation SNP G G T TCGA-MB-A8JL-01A-11D-A36J-09 TCGA-MB-A8JL-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 0476440f-78db-40fe-a45e-5c5e3e44bc03 3e532fd9-8d4e-4826-8969-6d5699e774ff 5 68411962 68411962 G T SNP SLC30A5 ENST00000396591 human ensembl 74_37 +1 known missense c.993 p.M331I 1.000 NULL pfam_Cation_efflux,tigrfam_Cation_efflux - no_errors SLC30A5 HGNC ENSG00000145740 tier1 - - 24 0 0.00 21 4 16.00 FDXACB1 0 genome.wustl.edu 37 11 111745984 111745984 + Missense_Mutation SNP G G A TCGA-MB-A8JL-01A-11D-A36J-09 TCGA-MB-A8JL-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 0476440f-78db-40fe-a45e-5c5e3e44bc03 3e532fd9-8d4e-4826-8969-6d5699e774ff 11 111745984 111745984 G A SNP FDXACB1 ENST00000260257 human ensembl 74_37 -1 known missense c.1537 p.R513C 0.998 NULL pfam_DUF2431,pfam_PheS_beta_Fdx_antiC-bd,superfamily_PheS_beta_Fdx_antiC-bd,smart_PheS_beta_Fdx_antiC-bd - no_errors FDXACB1 HGNC ENSG00000255561 tier1 - - 55 0 0.00 52 20 27.78 FAM109A 0 genome.wustl.edu 37 12 111801137 111801137 + Missense_Mutation SNP G G A TCGA-MB-A8JL-01A-11D-A36J-09 TCGA-MB-A8JL-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 0476440f-78db-40fe-a45e-5c5e3e44bc03 3e532fd9-8d4e-4826-8969-6d5699e774ff 12 111801137 111801137 G A SNP FAM109A ENST00000450786 human ensembl 74_37 -1 known missense c.37 p.R13W 0.999 NULL NULL - no_errors FAM109A HGNC ENSG00000198324 tier1 - - 48 0 0.00 31 24 43.64 ZBTB4 0 genome.wustl.edu 37 17 7366451 7366451 + Missense_Mutation SNP C C T TCGA-MB-A8JL-01A-11D-A36J-09 TCGA-MB-A8JL-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 0476440f-78db-40fe-a45e-5c5e3e44bc03 3e532fd9-8d4e-4826-8969-6d5699e774ff 17 7366451 7366451 C T SNP ZBTB4 ENST00000311403 human ensembl 74_37 -1 known missense c.1850 p.R617H 1.000 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB4 HGNC ENSG00000174282 tier1 rs200881841 - 42 0 0.00 20 19 48.72 FAM157A 0 genome.wustl.edu 37 3 197880166 197880166 + R SNP A A T TCGA-MB-A8JL-01A-11D-A36J-09 TCGA-MB-A8JL-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 0476440f-78db-40fe-a45e-5c5e3e44bc03 3e532fd9-8d4e-4826-8969-6d5699e774ff 3 197880166 197880166 A T SNP FAM157A ENST00000431569 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors FAM157A HGNC ENSG00000236438 tier1 - - 34 0 0.00 31 8 20.51 MT-ND6 0 genome.wustl.edu 37 MT 14362 14362 + Silent SNP C C T TCGA-MB-A8JL-01A-11D-A36J-09 TCGA-MB-A8JL-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 0476440f-78db-40fe-a45e-5c5e3e44bc03 3e532fd9-8d4e-4826-8969-6d5699e774ff MT 14362 14362 C T SNP MT-ND6 ENST00000361681 human ensembl 74_37 -1 known silent c.312 p.L104 NULL pfam_DH_UbQ/plastoQ_OxRdtase_su6 pfam_DH_UbQ/plastoQ_OxRdtase_su6 - no_errors MT-ND6 HGNC ENSG00000198695 tier1 - - 220 0 0.00 13 2 13.33 COLGALT2 0 genome.wustl.edu 37 1 183933060 183933060 + Silent SNP G G T TCGA-MB-A8JL-01A-11D-A36J-09 TCGA-MB-A8JL-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 0476440f-78db-40fe-a45e-5c5e3e44bc03 3e532fd9-8d4e-4826-8969-6d5699e774ff 1 183933060 183933060 G T SNP COLGALT2 ENST00000361927 human ensembl 74_37 -1 known silent c.927 p.L309 0.998 NULL pfam_Glyco_trans_25 - no_errors COLGALT2 HGNC ENSG00000198756 tier1 - - 42 0 0.00 46 4 8.00 TP53 0 genome.wustl.edu 37 17 7577124 7577124 + Missense_Mutation SNP C C T TCGA-MB-A8JL-01A-11D-A36J-09 TCGA-MB-A8JL-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 0476440f-78db-40fe-a45e-5c5e3e44bc03 3e532fd9-8d4e-4826-8969-6d5699e774ff 17 7577124 7577124 C T SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.814 p.V272M 1.000 pfam_p53_D-bd,superfamily_p53-like_TF_D-bd,prints_p53_tumour_suppressor pfam_p53_D-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_D-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 - - 42 0 0.00 23 18 43.90 LOC101929974 0 genome.wustl.edu 37 12 131692260 131692260 + R SNP G G A TCGA-MB-A8JL-01A-11D-A36J-09 TCGA-MB-A8JL-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 0476440f-78db-40fe-a45e-5c5e3e44bc03 3e532fd9-8d4e-4826-8969-6d5699e774ff 12 131692260 131692260 G A SNP LOC101929974 ENST00000376678 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-638F5.1 Clone_based_vega_gene ENSG00000204603 tier1 - - 58 0 0.00 30 25 45.45 ENPP3 0 genome.wustl.edu 37 6 132014684 132014684 + Silent SNP G G A TCGA-MB-A8JL-01A-11D-A36J-09 TCGA-MB-A8JL-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 0476440f-78db-40fe-a45e-5c5e3e44bc03 3e532fd9-8d4e-4826-8969-6d5699e774ff 6 132014684 132014684 G A SNP ENPP3 ENST00000357639 human ensembl 74_37 +1 known silent c.1332 p.L444 1.000 pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_D/R_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_D/R_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom - no_errors ENPP3 HGNC ENSG00000154269 tier1 - - 81 0 0.00 43 18 29.51 ENSG00000267601 0 genome.wustl.edu 37 17 76851730 76851730 + R SNP A A T TCGA-MB-A8JL-01A-11D-A36J-09 TCGA-MB-A8JL-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 0476440f-78db-40fe-a45e-5c5e3e44bc03 3e532fd9-8d4e-4826-8969-6d5699e774ff 17 76851730 76851730 A T SNP ENSG00000267601 ENST00000587434 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-323N12.5 Clone_based_vega_gene ENSG00000267601 tier1 - - 58 0 0.00 44 4 8.33 DGCR5 0 genome.wustl.edu 37 22 18979573 18979573 + R SNP G G A TCGA-MB-A8JL-01A-11D-A36J-09 TCGA-MB-A8JL-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 0476440f-78db-40fe-a45e-5c5e3e44bc03 3e532fd9-8d4e-4826-8969-6d5699e774ff 22 18979573 18979573 G A SNP DGCR5 ENST00000438934 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors DGCR5 HGNC ENSG00000237517 tier1 - - 19 0 0.00 15 4 21.05 MAS1L 0 genome.wustl.edu 37 6 29454663 29454663 + Missense_Mutation SNP A A T TCGA-MB-A8JL-01A-11D-A36J-09 TCGA-MB-A8JL-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 0476440f-78db-40fe-a45e-5c5e3e44bc03 3e532fd9-8d4e-4826-8969-6d5699e774ff 6 29454663 29454663 A T SNP MAS1L ENST00000377127 human ensembl 74_37 -1 known missense c.1017 p.D339E 0.001 NULL pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors MAS1L HGNC ENSG00000204687 tier1 - - 75 0 0.00 35 33 48.53 C12orf10 0 genome.wustl.edu 37 12 53699735 53699735 + Missense_Mutation SNP G G A TCGA-MB-A8JL-01A-11D-A36J-09 TCGA-MB-A8JL-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 0476440f-78db-40fe-a45e-5c5e3e44bc03 3e532fd9-8d4e-4826-8969-6d5699e774ff 12 53699735 53699735 G A SNP C12orf10 ENST00000549488 human ensembl 74_37 +1 putative missense c.44 p.G15E 1.000 pfam_Met-dep_prot_hydro pfam_Met-dep_prot_hydro - no_errors C12orf10 HGNC ENSG00000139637 tier1 - - 47 0 0.00 25 3 10.71 TNRC18 0 genome.wustl.edu 37 7 5353375 5353375 + Nonsense_Mutation SNP G G A TCGA-MB-A8JL-01A-11D-A36J-09 TCGA-MB-A8JL-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 0476440f-78db-40fe-a45e-5c5e3e44bc03 3e532fd9-8d4e-4826-8969-6d5699e774ff 7 5353375 5353375 G A SNP TNRC18 ENST00000399537 human ensembl 74_37 -1 known nonsense c.7147 p.R2383* 0.998 NULL pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors TNRC18 HGNC ENSG00000182095 tier1 - - 23 0 0.00 9 10 52.63 STRIP1 0 genome.wustl.edu 37 1 110580694 110580703 + R DEL ATATATATAT ATATATATAT - TCGA-MB-A8JL-01A-11D-A36J-09 TCGA-MB-A8JL-10A-01D-A36M-09 ATATATATAT ATATATATAT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 0476440f-78db-40fe-a45e-5c5e3e44bc03 3e532fd9-8d4e-4826-8969-6d5699e774ff 1 110580694 110580703 ATATATATAT - DEL STRIP1 ENST00000489059 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.001:0.001:0.001 - - - no_errors STRIP1 HGNC ENSG00000143093 tier1 CABIN1 0 genome.wustl.edu 37 22 24573619 24573619 + Missense_Mutation SNP A A C TCGA-MB-A8JL-01A-11D-A36J-09 TCGA-MB-A8JL-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 0476440f-78db-40fe-a45e-5c5e3e44bc03 3e532fd9-8d4e-4826-8969-6d5699e774ff 22 24573619 24573619 A C SNP CABIN1 ENST00000263119 human ensembl 74_37 +1 known missense c.6353 p.K2118T 0.996 NULL pfam_MEF2_binding,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CABIN1 HGNC ENSG00000099991 tier1 - - 72 0 0.00 58 27 31.76 ZNF207 0 genome.wustl.edu 37 17 30700337 30700338 + R INS - - A TCGA-MB-A8JL-01A-11D-A36J-09 TCGA-MB-A8JL-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 0476440f-78db-40fe-a45e-5c5e3e44bc03 3e532fd9-8d4e-4826-8969-6d5699e774ff 17 30700337 30700338 - A INS ZNF207 ENST00000584416 human ensembl 74_37 +1 putative rna NULL NULL 0.001:0.001 - - - no_errors ZNF207 HGNC ENSG00000010244 tier1 24 0 0.00 24 3 11.11 NPAP1 0 genome.wustl.edu 37 15 24923769 24923769 + Missense_Mutation SNP C C T TCGA-MB-A8JL-01A-11D-A36J-09 TCGA-MB-A8JL-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 0476440f-78db-40fe-a45e-5c5e3e44bc03 3e532fd9-8d4e-4826-8969-6d5699e774ff 15 24923769 24923769 C T SNP NPAP1 ENST00000329468 human ensembl 74_37 +1 known missense c.2755 p.P919S 0.000 NULL NULL - no_errors NPAP1 HGNC ENSG00000185823 tier1 - - 26 0 0.00 20 21 51.22 FGFR4 0 genome.wustl.edu 37 5 176524315 176524315 + Missense_Mutation SNP T T A TCGA-MB-A8JL-01A-11D-A36J-09 TCGA-MB-A8JL-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 0476440f-78db-40fe-a45e-5c5e3e44bc03 3e532fd9-8d4e-4826-8969-6d5699e774ff 5 176524315 176524315 T A SNP FGFR4 ENST00000292408 human ensembl 74_37 +1 known missense c.2176 p.W726R 1.000 pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors FGFR4 HGNC ENSG00000160867 tier1 - - 51 0 0.00 21 4 16.00 ADI1 0 genome.wustl.edu 37 2 3502846 3502846 + Missense_Mutation SNP G G A TCGA-MB-A8JL-01A-11D-A36J-09 TCGA-MB-A8JL-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 0476440f-78db-40fe-a45e-5c5e3e44bc03 3e532fd9-8d4e-4826-8969-6d5699e774ff 2 3502846 3502846 G A SNP ADI1 ENST00000327435 human ensembl 74_37 -1 known missense c.428 p.T143M 1.000 pfam_Acireductn_dOase_family,pfam_AraC-bd,superfamily_RmlC_Cupin pfam_Acireductn_dOase_family,pfam_Cupin_2,pfam_AraC-bd,superfamily_RmlC_Cupin - no_errors ADI1 HGNC ENSG00000182551 tier1 - - 58 0 0.00 47 55 53.92 IKZF2 0 genome.wustl.edu 37 2 213914541 213914541 + Missense_Mutation SNP C C A TCGA-MB-A8JL-01A-11D-A36J-09 TCGA-MB-A8JL-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 0476440f-78db-40fe-a45e-5c5e3e44bc03 3e532fd9-8d4e-4826-8969-6d5699e774ff 2 213914541 213914541 C A SNP IKZF2 ENST00000434687 human ensembl 74_37 -1 known missense c.470 p.R157I 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors IKZF2 HGNC ENSG00000030419 tier1 - - 83 0 0.00 46 42 47.73 MED16 0 genome.wustl.edu 37 19 871225 871225 + Missense_Mutation SNP C C T TCGA-MB-A8JL-01A-11D-A36J-09 TCGA-MB-A8JL-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 0476440f-78db-40fe-a45e-5c5e3e44bc03 3e532fd9-8d4e-4826-8969-6d5699e774ff 19 871225 871225 C T SNP MED16 ENST00000269814 human ensembl 74_37 -1 known missense c.1934 p.R645Q 0.017 NULL pfam_Mediator_Med16,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors MED16 HGNC ENSG00000175221 tier1 - - 13 0 0.00 11 9 45.00 PRKCZ 0 genome.wustl.edu 37 1 2077516 2077516 + Silent SNP C C T TCGA-MB-A8JL-01A-11D-A36J-09 TCGA-MB-A8JL-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 0476440f-78db-40fe-a45e-5c5e3e44bc03 3e532fd9-8d4e-4826-8969-6d5699e774ff 1 2077516 2077516 C T SNP PRKCZ ENST00000378567 human ensembl 74_37 +1 known silent c.603 p.D201 1.000 pirsf_PKC_zeta pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_OPR_PB1,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_OPR_PB1,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_PKC_zeta,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd - no_errors PRKCZ HGNC ENSG00000067606 tier1 - - 35 0 0.00 19 16 45.71 CAT 0 genome.wustl.edu 37 11 34490058 34490058 + R DEL A A - TCGA-MB-A8JL-01A-11D-A36J-09 TCGA-MB-A8JL-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 0476440f-78db-40fe-a45e-5c5e3e44bc03 3e532fd9-8d4e-4826-8969-6d5699e774ff 11 34490058 34490058 A - DEL CAT ENST00000525707 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors CAT HGNC ENSG00000121691 tier1 18 0 0.00 28 4 12.50 FLG 0 genome.wustl.edu 37 1 152280704 152280704 + Missense_Mutation SNP A A G TCGA-MB-A8JL-01A-11D-A36J-09 TCGA-MB-A8JL-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 0476440f-78db-40fe-a45e-5c5e3e44bc03 3e532fd9-8d4e-4826-8969-6d5699e774ff 1 152280704 152280704 A G SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.6658 p.S2220P 0.000 pfam_Filaggrin pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 tier1 - - 107 0 0.00 150 14 8.54 ANKRD26 0 genome.wustl.edu 37 10 27352964 27352964 + Missense_Mutation SNP C C A TCGA-MB-A8JL-01A-11D-A36J-09 TCGA-MB-A8JL-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 0476440f-78db-40fe-a45e-5c5e3e44bc03 3e532fd9-8d4e-4826-8969-6d5699e774ff 10 27352964 27352964 C A SNP ANKRD26 ENST00000436985 human ensembl 74_37 -1 known missense c.1463 p.G488V 0.001 NULL pfam_DUF3496,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Polyketide_synth_docking,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD26 HGNC ENSG00000107890 tier1 - - 108 0 0.00 73 17 18.89 ITGAM 0 genome.wustl.edu 37 16 31338251 31338251 + Silent SNP G G A TCGA-MB-A8JL-01A-11D-A36J-09 TCGA-MB-A8JL-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 0476440f-78db-40fe-a45e-5c5e3e44bc03 3e532fd9-8d4e-4826-8969-6d5699e774ff 16 31338251 31338251 G A SNP ITGAM ENST00000544665 human ensembl 74_37 +1 known silent c.2706 p.V902 0.999 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGAM HGNC ENSG00000169896 tier1 - - 36 0 0.00 18 70 79.55 DACH1 0 genome.wustl.edu 37 13 72440659 72440664 + In_Frame_Del DEL GCCGCC GCCGCC - TCGA-MB-A8JL-01A-11D-A36J-09 TCGA-MB-A8JL-10A-01D-A36M-09 GCCGCC GCCGCC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 0476440f-78db-40fe-a45e-5c5e3e44bc03 3e532fd9-8d4e-4826-8969-6d5699e774ff 13 72440659 72440664 GCCGCC - DEL DACH1 ENST00000359684 human ensembl 74_37 -1 known in_frame_del c.249_244 p.GG82in_frame_del 0.750:0.744:0.739:0.734:0.729:0.725 NULL pfam_Transform_Ski,superfamily_D-bd_dom_put - no_errors DACH1 HGNC ENSG00000165659 tier1 CLRN2 0 genome.wustl.edu 37 4 17524516 17524516 + Missense_Mutation SNP G G A TCGA-MB-A8JL-01A-11D-A36J-09 TCGA-MB-A8JL-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 0476440f-78db-40fe-a45e-5c5e3e44bc03 3e532fd9-8d4e-4826-8969-6d5699e774ff 4 17524516 17524516 G A SNP CLRN2 ENST00000511148 human ensembl 74_37 +1 known missense c.283 p.A95T 0.061 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin - no_errors CLRN2 HGNC ENSG00000249581 tier1 - - 35 0 0.00 28 30 51.72 SMCO2 0 genome.wustl.edu 37 12 27627847 27627848 + Splice_Site INS - - T TCGA-MB-A8JL-01A-11D-A36J-09 TCGA-MB-A8JL-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 0476440f-78db-40fe-a45e-5c5e3e44bc03 3e532fd9-8d4e-4826-8969-6d5699e774ff 12 27627847 27627848 - T INS SMCO2 ENST00000416383 human ensembl 74_37 +1 known splice_site_ins c.362+1_362+1 e3+1 0.816:0.976 - - - no_errors SMCO2 HGNC ENSG00000165935 tier1 49 0 0.00 62 67 51.94 RPL5 0 genome.wustl.edu 37 1 93300445 93300445 + Missense_Mutation SNP G G T TCGA-MB-A8JL-01A-11D-A36J-09 TCGA-MB-A8JL-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 0476440f-78db-40fe-a45e-5c5e3e44bc03 3e532fd9-8d4e-4826-8969-6d5699e774ff 1 93300445 93300445 G T SNP RPL5 ENST00000370321 human ensembl 74_37 +1 known missense c.299 p.C100F 1.000 pfam_Ribosomal_L18/L5,prints_Rbsml_L5_euk/L18_arc pfam_Ribosomal_L18/L5,prints_Rbsml_L5_euk/L18_arc - no_errors RPL5 HGNC ENSG00000122406 tier1 - - 49 0 0.00 45 18 28.57 MAP1B 0 genome.wustl.edu 37 5 71491298 71491298 + Missense_Mutation SNP C C A TCGA-MB-A8JL-01A-11D-A36J-09 TCGA-MB-A8JL-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 0476440f-78db-40fe-a45e-5c5e3e44bc03 3e532fd9-8d4e-4826-8969-6d5699e774ff 5 71491298 71491298 C A SNP MAP1B ENST00000296755 human ensembl 74_37 +1 known missense c.2116 p.P706T 0.019 NULL pfam_MAP1B_neuraxin - no_errors MAP1B HGNC ENSG00000131711 tier1 - - 20 0 0.00 23 4 14.81 RBL2 0 genome.wustl.edu 37 16 53525451 53525451 + R SNP G G A TCGA-MB-A8JL-01A-11D-A36J-09 TCGA-MB-A8JL-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 0476440f-78db-40fe-a45e-5c5e3e44bc03 3e532fd9-8d4e-4826-8969-6d5699e774ff 16 53525451 53525451 G A SNP RBL2 ENST00000379935 human ensembl 74_37 +1 known rna NULL NULL 0.994 - - - no_errors RBL2 HGNC ENSG00000103479 tier1 - - 50 0 0.00 33 4 10.81 EXD3 0 genome.wustl.edu 37 9 140218215 140218215 + Missense_Mutation SNP C C T TCGA-MB-A8JL-01A-11D-A36J-09 TCGA-MB-A8JL-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 0476440f-78db-40fe-a45e-5c5e3e44bc03 3e532fd9-8d4e-4826-8969-6d5699e774ff 9 140218215 140218215 C T SNP EXD3 ENST00000340951 human ensembl 74_37 -1 known missense c.2146 p.V716M 1.000 pfam_Mut7-C_Rse_dom pfam_Mut7-C_Rse_dom,pfam_3'-5'_exonuclease_dom,superfamily_RNaseH-like_dom,smart_3'-5'_exonuclease_dom - no_errors EXD3 HGNC ENSG00000187609 tier1 - - 75 0 0.00 32 32 50.00 LMTK2 0 genome.wustl.edu 37 7 97788700 97788700 + Missense_Mutation SNP C C T TCGA-MB-A8JL-01A-11D-A36J-09 TCGA-MB-A8JL-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 0476440f-78db-40fe-a45e-5c5e3e44bc03 3e532fd9-8d4e-4826-8969-6d5699e774ff 7 97788700 97788700 C T SNP LMTK2 ENST00000297293 human ensembl 74_37 +1 known missense c.620 p.A207V 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors LMTK2 HGNC ENSG00000164715 tier1 - - 105 0 0.00 75 57 43.18 C14orf164 0 genome.wustl.edu 37 14 23732145 23732145 + Nonsense_Mutation SNP C C T TCGA-MB-A8JL-01A-11D-A36J-09 TCGA-MB-A8JL-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 0476440f-78db-40fe-a45e-5c5e3e44bc03 3e532fd9-8d4e-4826-8969-6d5699e774ff 14 23732145 23732145 C T SNP C14orf164 ENST00000430154 human ensembl 74_37 +1 known nonsense c.490 p.R164* 1.000 NULL NULL - no_errors C14orf164 HGNC ENSG00000215277 tier1 - - 71 0 0.00 62 76 55.07 SPATA31A6 0 genome.wustl.edu 37 9 43627364 43627364 + Missense_Mutation SNP C C A TCGA-MB-A8JL-01A-11D-A36J-09 TCGA-MB-A8JL-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 0476440f-78db-40fe-a45e-5c5e3e44bc03 3e532fd9-8d4e-4826-8969-6d5699e774ff 9 43627364 43627364 C A SNP SPATA31A6 ENST00000332857 human ensembl 74_37 -1 known missense c.1323 p.Q441H 0.000 NULL NULL - no_errors SPATA31A6 HGNC ENSG00000185775 tier1 - - 184 0 0.00 84 86 50.29 GORASP2 0 genome.wustl.edu 37 2 171811195 171811195 + Missense_Mutation SNP G G A TCGA-MB-A8JL-01A-11D-A36J-09 TCGA-MB-A8JL-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 0476440f-78db-40fe-a45e-5c5e3e44bc03 3e532fd9-8d4e-4826-8969-6d5699e774ff 2 171811195 171811195 G A SNP GORASP2 ENST00000452526 human ensembl 74_37 +1 known missense c.638 p.R213Q 1.000 pfam_GRASP55/65_PDZ pfam_GRASP55/65_PDZ,superfamily_PDZ - no_errors GORASP2 HGNC ENSG00000115806 tier1 - - 57 0 0.00 45 37 45.12