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 MOV10 0 genome.wustl.edu 37 1 113229666 113229666 + R SNP G G A TCGA-3B-A9HZ-01A-11D-A38Z-09 TCGA-3B-A9HZ-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 22a78893-3edf-442b-ac7b-78d969165f30 fd3defe6-b6ae-4755-85f4-80f2321a7c99 1 113229666 113229666 G A SNP MOV10 ENST00000465579 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors MOV10 HGNC ENSG00000155363 tier1 - - 57 0 0.00 55 33 37.50 94 0 0.00 74 26 25.49 KIAA1919 0 genome.wustl.edu 37 6 111588190 111588190 + Silent SNP G G A TCGA-3B-A9HZ-01A-11D-A38Z-09 TCGA-3B-A9HZ-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 22a78893-3edf-442b-ac7b-78d969165f30 fd3defe6-b6ae-4755-85f4-80f2321a7c99 6 111588190 111588190 G A SNP KIAA1919 ENST00000368847 human ensembl 74_37 +1 known silent c.1425 p.L475 0.000 NULL pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors KIAA1919 HGNC ENSG00000173214 tier1 - - 70 0 0.00 49 14 22.22 105 0 0.00 79 28 25.93 LRRC4 0 genome.wustl.edu 37 7 127668846 127668846 + Silent SNP G G T TCGA-3B-A9HZ-01A-11D-A38Z-09 TCGA-3B-A9HZ-10A-01D-A38Z-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 22a78893-3edf-442b-ac7b-78d969165f30 fd3defe6-b6ae-4755-85f4-80f2321a7c99 7 127668846 127668846 G T SNP LRRC4 ENST00000249363 human ensembl 74_37 -1 known silent c.1848 p.A616 1.000 NULL pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRRC4 HGNC ENSG00000128594 tier1 - - 49 0 0.00 34 16 32.00 118 0 0.00 100 31 23.66 LRRC4 0 genome.wustl.edu 37 7 127668847 127668847 + Missense_Mutation SNP G G A TCGA-3B-A9HZ-01A-11D-A38Z-09 TCGA-3B-A9HZ-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 22a78893-3edf-442b-ac7b-78d969165f30 fd3defe6-b6ae-4755-85f4-80f2321a7c99 7 127668847 127668847 G A SNP LRRC4 ENST00000249363 human ensembl 74_37 -1 known missense c.1847 p.A616V 1.000 NULL pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRRC4 HGNC ENSG00000128594 tier1 - - 47 0 0.00 33 17 34.00 117 0 0.00 100 31 23.66 ATR 0 genome.wustl.edu 37 3 142277619 142277619 + Splice_Site SNP C C T TCGA-3B-A9HZ-01A-11D-A38Z-09 TCGA-3B-A9HZ-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 22a78893-3edf-442b-ac7b-78d969165f30 fd3defe6-b6ae-4755-85f4-80f2321a7c99 3 142277619 142277619 C T SNP ATR ENST00000350721 human ensembl 74_37 -1 known splice_site c.1733-1 e8-1 1.000 - - - no_errors ATR HGNC ENSG00000175054 tier1 - - 113 0 0.00 87 45 33.83 40 0 0.00 79 28 26.17 SEMG1 0 genome.wustl.edu 37 20 43836987 43836987 + Missense_Mutation SNP C C G TCGA-3B-A9HZ-01A-11D-A38Z-09 TCGA-3B-A9HZ-10A-01D-A38Z-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 22a78893-3edf-442b-ac7b-78d969165f30 fd3defe6-b6ae-4755-85f4-80f2321a7c99 20 43836987 43836987 C G SNP SEMG1 ENST00000372781 human ensembl 74_37 +1 known missense c.1049 p.S350C 0.000 pfam_Semenogelin pfam_Semenogelin - no_errors SEMG1 HGNC ENSG00000124233 tier1 - - 48 0 0.00 53 19 26.39 40 0 0.00 36 13 26.53 NOA1 0 genome.wustl.edu 37 4 57843743 57843743 + Silent SNP G G C TCGA-3B-A9HZ-01A-11D-A38Z-09 TCGA-3B-A9HZ-10A-01D-A38Z-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 22a78893-3edf-442b-ac7b-78d969165f30 fd3defe6-b6ae-4755-85f4-80f2321a7c99 4 57843743 57843743 G C SNP NOA1 ENST00000264230 human ensembl 74_37 -1 known silent c.9 p.P3 0.000 NULL superfamily_P-loop_NTPase - no_errors NOA1 HGNC ENSG00000084092 tier1 - - 45 0 0.00 32 11 25.58 54 0 0.00 27 20 42.55 CEP192 0 genome.wustl.edu 37 18 13056253 13056253 + Missense_Mutation SNP G G A TCGA-3B-A9HZ-01A-11D-A38Z-09 TCGA-3B-A9HZ-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 22a78893-3edf-442b-ac7b-78d969165f30 fd3defe6-b6ae-4755-85f4-80f2321a7c99 18 13056253 13056253 G A SNP CEP192 ENST00000506447 human ensembl 74_37 +1 known missense c.3664 p.E1222K 0.000 NULL NULL - no_errors CEP192 HGNC ENSG00000101639 tier1 - - 20 0 0.00 14 9 39.13 86 0 0.00 59 25 29.76 C16orf62 0 genome.wustl.edu 37 16 19663381 19663381 + Missense_Mutation SNP G G T TCGA-3B-A9HZ-01A-11D-A38Z-09 TCGA-3B-A9HZ-10A-01D-A38Z-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 22a78893-3edf-442b-ac7b-78d969165f30 fd3defe6-b6ae-4755-85f4-80f2321a7c99 16 19663381 19663381 G T SNP C16orf62 ENST00000438132 human ensembl 74_37 +1 known missense c.2457 p.Q819H 1.000 NULL NULL - no_errors C16orf62 HGNC ENSG00000103544 tier1 - - 44 0 0.00 29 21 42.00 100 1 0.98 52 26 33.33 ST8SIA4 0 genome.wustl.edu 37 5 100192092 100192092 + Missense_Mutation SNP A A T TCGA-3B-A9HZ-01A-11D-A38Z-09 TCGA-3B-A9HZ-10A-01D-A38Z-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 22a78893-3edf-442b-ac7b-78d969165f30 fd3defe6-b6ae-4755-85f4-80f2321a7c99 5 100192092 100192092 A T SNP ST8SIA4 ENST00000231461 human ensembl 74_37 -1 known missense c.512 p.L171Q 1.000 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST8SIA4 HGNC ENSG00000113532 tier1 - - 28 0 0.00 27 14 34.15 47 0 0.00 46 15 24.59 OTOF 0 genome.wustl.edu 37 2 26750774 26750774 + Silent SNP C C T TCGA-3B-A9HZ-01A-11D-A38Z-09 TCGA-3B-A9HZ-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 22a78893-3edf-442b-ac7b-78d969165f30 fd3defe6-b6ae-4755-85f4-80f2321a7c99 2 26750774 26750774 C T SNP OTOF ENST00000272371 human ensembl 74_37 -1 known silent c.153 p.P51 0.007 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors OTOF HGNC ENSG00000115155 tier1 - - 56 0 0.00 33 32 48.48 44 0 0.00 22 11 33.33 SNORA25 0 genome.wustl.edu 37 11 93463686 93463686 + R SNP T T G TCGA-3B-A9HZ-01A-11D-A38Z-09 TCGA-3B-A9HZ-10A-01D-A38Z-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 22a78893-3edf-442b-ac7b-78d969165f30 fd3defe6-b6ae-4755-85f4-80f2321a7c99 11 93463686 93463686 T G SNP SNORA25 ENST00000384384 human ensembl 74_37 -1 known rna NULL NULL 0.290 - - - no_errors SNORA25 HGNC ENSG00000207112 tier1 - - 77 0 0.00 80 20 20.00 35 0 0.00 57 23 28.75 CNOT8 0 genome.wustl.edu 37 5 154252173 154252173 + Missense_Mutation SNP T T G TCGA-3B-A9HZ-01A-11D-A38Z-09 TCGA-3B-A9HZ-10A-01D-A38Z-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 22a78893-3edf-442b-ac7b-78d969165f30 fd3defe6-b6ae-4755-85f4-80f2321a7c99 5 154252173 154252173 T G SNP CNOT8 ENST00000285896 human ensembl 74_37 +1 known missense c.691 p.S231A 1.000 pfam_RNase_CAF1,superfamily_RNaseH-like_dom pfam_RNase_CAF1,superfamily_RNaseH-like_dom - no_errors CNOT8 HGNC ENSG00000155508 tier1 - - 79 0 0.00 73 24 24.74 67 0 0.00 43 9 17.31 APC2 0 genome.wustl.edu 37 9 140080800 140080800 + Missense_Mutation SNP A A C TCGA-3B-A9HZ-01A-11D-A38Z-09 TCGA-3B-A9HZ-10A-01D-A38Z-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 22a78893-3edf-442b-ac7b-78d969165f30 fd3defe6-b6ae-4755-85f4-80f2321a7c99 9 140080800 140080800 A C SNP APC2 ENST00000323927 human ensembl 74_37 -1 known missense c.749 p.L250R 1.000 NULL pfam_Cullin_N,pfam_APC_su2_C,superfamily_Cullin_homology,smart_Cullin_homology,pfscan_Cullin_homology - no_errors APC2 HGNC ENSG00000176248 tier1 - - 70 0 0.00 40 28 41.18 42 0 0.00 13 10 43.48 RPGRIP1L 0 genome.wustl.edu 37 16 53691422 53691422 + Silent SNP C C T TCGA-3B-A9HZ-01A-11D-A38Z-09 TCGA-3B-A9HZ-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 22a78893-3edf-442b-ac7b-78d969165f30 fd3defe6-b6ae-4755-85f4-80f2321a7c99 16 53691422 53691422 C T SNP RPGRIP1L ENST00000379925 human ensembl 74_37 -1 known silent c.1524 p.E508 1.000 NULL pfam_DUF3250,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors RPGRIP1L HGNC ENSG00000103494 tier1 - - 73 0 0.00 37 34 47.89 29 0 0.00 34 16 32.00 ADCYAP1R1 0 genome.wustl.edu 37 7 31120238 31120238 + Silent SNP C C T TCGA-3B-A9HZ-01A-11D-A38Z-09 TCGA-3B-A9HZ-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 22a78893-3edf-442b-ac7b-78d969165f30 fd3defe6-b6ae-4755-85f4-80f2321a7c99 7 31120238 31120238 C T SNP ADCYAP1R1 ENST00000304166 human ensembl 74_37 +1 known silent c.276 p.T92 0.009 pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,prints_GPCR_2_PACAP_1_rcpt pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_PACAP_1_rcpt,prints_GPCR_2_secretin-like - no_errors ADCYAP1R1 HGNC ENSG00000078549 tier1 - - 23 0 0.00 19 15 44.12 76 0 0.00 39 7 15.22 LRP2 0 genome.wustl.edu 37 2 170065981 170065981 + Missense_Mutation SNP C C A TCGA-3B-A9HZ-01A-11D-A38Z-09 TCGA-3B-A9HZ-10A-01D-A38Z-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 22a78893-3edf-442b-ac7b-78d969165f30 fd3defe6-b6ae-4755-85f4-80f2321a7c99 2 170065981 170065981 C A SNP LRP2 ENST00000263816 human ensembl 74_37 -1 known missense c.6451 p.A2151S 1.000 smart_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,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 LRP2 HGNC ENSG00000081479 tier1 - - 59 0 0.00 58 21 26.58 70 0 0.00 87 25 22.32 CD163 0 genome.wustl.edu 37 12 7636086 7636086 + Nonsense_Mutation SNP C C A TCGA-3B-A9HZ-01A-11D-A38Z-09 TCGA-3B-A9HZ-10A-01D-A38Z-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 22a78893-3edf-442b-ac7b-78d969165f30 fd3defe6-b6ae-4755-85f4-80f2321a7c99 12 7636086 7636086 C A SNP CD163 ENST00000359156 human ensembl 74_37 -1 known nonsense c.2965 p.G989* 0.948 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_SRCR,pfscan_SRCR - no_errors CD163 HGNC ENSG00000177575 tier1 - - 19 0 0.00 22 9 28.12 94 0 0.00 78 29 26.85 ATF4 0 genome.wustl.edu 37 22 39917546 39917546 + Silent SNP T T G TCGA-3B-A9HZ-01A-11D-A38Z-09 TCGA-3B-A9HZ-10A-01D-A38Z-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 22a78893-3edf-442b-ac7b-78d969165f30 fd3defe6-b6ae-4755-85f4-80f2321a7c99 22 39917546 39917546 T G SNP ATF4 ENST00000337304 human ensembl 74_37 +1 known silent c.96 p.G32 1.000 NULL pfam_bZIP,smart_bZIP,pfscan_bZIP - no_errors ATF4 HGNC ENSG00000128272 tier1 - - 75 0 0.00 64 15 18.99 66 0 0.00 32 14 30.43 PFKFB4 0 genome.wustl.edu 37 3 48587370 48587370 + Missense_Mutation SNP G G A TCGA-3B-A9HZ-01A-11D-A38Z-09 TCGA-3B-A9HZ-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 22a78893-3edf-442b-ac7b-78d969165f30 fd3defe6-b6ae-4755-85f4-80f2321a7c99 3 48587370 48587370 G A SNP PFKFB4 ENST00000232375 human ensembl 74_37 -1 known missense c.238 p.R80W 1.000 pfam_6Phosfructo_kin,superfamily_P-loop_NTPase,pirsf_Bifunct_6PFK/fruc_bisP_Ptase pfam_6Phosfructo_kin,pfam_His_Pase_superF_clade-1,superfamily_P-loop_NTPase,smart_His_Pase_superF_clade-1,pirsf_Bifunct_6PFK/fruc_bisP_Ptase,prints_6Pfruct_kin - no_errors PFKFB4 HGNC ENSG00000114268 tier1 rs201114950 - 70 0 0.00 68 41 37.61 115 0 0.00 92 28 22.95 PER2 0 genome.wustl.edu 37 2 239170424 239170424 + Silent SNP G G C TCGA-3B-A9HZ-01A-11D-A38Z-09 TCGA-3B-A9HZ-10A-01D-A38Z-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 22a78893-3edf-442b-ac7b-78d969165f30 fd3defe6-b6ae-4755-85f4-80f2321a7c99 2 239170424 239170424 G C SNP PER2 ENST00000254657 human ensembl 74_37 -1 known silent c.1362 p.A454 0.354 NULL pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,superfamily_PAS,smart_PAS,pfscan_PAS - no_errors PER2 HGNC ENSG00000132326 tier1 - - 42 0 0.00 39 22 36.07 46 0 0.00 34 14 29.17 CFH 0 genome.wustl.edu 37 1 196654214 196654214 + Missense_Mutation SNP T T A TCGA-3B-A9HZ-01A-11D-A38Z-09 TCGA-3B-A9HZ-10A-01D-A38Z-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 22a78893-3edf-442b-ac7b-78d969165f30 fd3defe6-b6ae-4755-85f4-80f2321a7c99 1 196654214 196654214 T A SNP CFH ENST00000367429 human ensembl 74_37 +1 known missense c.811 p.Y271N 0.008 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFH HGNC ENSG00000000971 tier1 - - 77 0 0.00 69 40 36.70 40 0 0.00 78 49 38.58 KIAA1919 0 genome.wustl.edu 37 6 111588128 111588128 + Missense_Mutation SNP G G A TCGA-3B-A9HZ-01A-11D-A38Z-09 TCGA-3B-A9HZ-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 22a78893-3edf-442b-ac7b-78d969165f30 fd3defe6-b6ae-4755-85f4-80f2321a7c99 6 111588128 111588128 G A SNP KIAA1919 ENST00000368847 human ensembl 74_37 +1 known missense c.1363 p.E455K 1.000 NULL pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors KIAA1919 HGNC ENSG00000173214 tier1 - - 56 0 0.00 41 15 26.79 106 0 0.00 81 30 27.03 KCP 0 genome.wustl.edu 37 7 128526723 128526723 + R SNP A A T TCGA-3B-A9HZ-01A-11D-A38Z-09 TCGA-3B-A9HZ-10A-01D-A38Z-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 22a78893-3edf-442b-ac7b-78d969165f30 fd3defe6-b6ae-4755-85f4-80f2321a7c99 7 128526723 128526723 A T SNP KCP ENST00000297801 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors KCP HGNC ENSG00000135253 tier1 - - 44 0 0.00 28 13 30.95 86 0 0.00 59 33 35.87 NMT1 0 genome.wustl.edu 37 1 10042481 10042481 + Missense_Mutation SNP C C T TCGA-3B-A9HZ-01A-11D-A38Z-09 TCGA-3B-A9HZ-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 22a78893-3edf-442b-ac7b-78d969165f30 fd3defe6-b6ae-4755-85f4-80f2321a7c99 1 10042481 10042481 C T SNP NMT1 ENST00000377205 human ensembl 74_37 +1 known missense c.562 p.R188W 0.999 pfam_Cyt_trans-like,tigrfam_MN_adtrnsfrase pfam_Cyt_trans-like,tigrfam_MN_adtrnsfrase - no_errors NMT1 HGNC ENSG00000173614 tier1 - - 38 0 0.00 51 10 16.39 78 1 1.27 56 11 16.42 TP53 0 genome.wustl.edu 37 17 7577114 7577114 + Missense_Mutation SNP C C T TCGA-3B-A9HZ-01A-11D-A38Z-09 TCGA-3B-A9HZ-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 22a78893-3edf-442b-ac7b-78d969165f30 fd3defe6-b6ae-4755-85f4-80f2321a7c99 17 7577114 7577114 C T SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.824 p.C275Y 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 - - 37 0 0.00 17 16 48.48 118 0 0.00 32 23 41.82 MEGF10 0 genome.wustl.edu 37 5 126774171 126774171 + Silent SNP G G A TCGA-3B-A9HZ-01A-11D-A38Z-09 TCGA-3B-A9HZ-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 22a78893-3edf-442b-ac7b-78d969165f30 fd3defe6-b6ae-4755-85f4-80f2321a7c99 5 126774171 126774171 G A SNP MEGF10 ENST00000274473 human ensembl 74_37 +1 known silent c.2145 p.T715 0.000 smart_EG-like_dom,pfscan_EG-like_dom pfam_EGF_laminin,pfam_EGF_extracell,superfamily_Proteinase_amylase_inhib_dom,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EMI_domain - no_errors MEGF10 HGNC ENSG00000145794 tier1 rs200994008 GMAF=0 56 0 0.00 46 22 32.35 59 0 0.00 49 24 32.88 CARD11 0 genome.wustl.edu 37 7 2959095 2959095 + Missense_Mutation SNP C C T TCGA-3B-A9HZ-01A-11D-A38Z-09 TCGA-3B-A9HZ-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 22a78893-3edf-442b-ac7b-78d969165f30 fd3defe6-b6ae-4755-85f4-80f2321a7c99 7 2959095 2959095 C T SNP CARD11 ENST00000396946 human ensembl 74_37 -1 known missense c.2421 p.M807I 1.000 NULL pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,superfamily_PDZ,pfscan_CARD - no_errors CARD11 HGNC ENSG00000198286 tier1 - - 43 0 0.00 21 6 22.22 76 0 0.00 47 21 30.88 DH8 0 genome.wustl.edu 37 6 38835893 38835893 + Missense_Mutation SNP C C G TCGA-3B-A9HZ-01A-11D-A38Z-09 TCGA-3B-A9HZ-10A-01D-A38Z-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 22a78893-3edf-442b-ac7b-78d969165f30 fd3defe6-b6ae-4755-85f4-80f2321a7c99 6 38835893 38835893 C G SNP DH8 ENST00000359357 human ensembl 74_37 +1 known missense c.6098 p.S2033C 1.000 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DH8 HGNC ENSG00000124721 tier1 - - 107 0 0.00 85 44 34.11 43 0 0.00 63 23 26.74 RUNX2 0 genome.wustl.edu 37 6 45514992 45514992 + Missense_Mutation SNP G G T TCGA-3B-A9HZ-01A-11D-A38Z-09 TCGA-3B-A9HZ-10A-01D-A38Z-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 22a78893-3edf-442b-ac7b-78d969165f30 fd3defe6-b6ae-4755-85f4-80f2321a7c99 6 45514992 45514992 G T SNP RUNX2 ENST00000352853 human ensembl 74_37 +1 known missense c.1720 p.V574F 1.000 pfam_RunxI_C_dom,prints_AML1_Runt pfam_Runt_dom,pfam_RunxI_C_dom,superfamily_p53-like_TF_D-bd,pfscan_Runt_dom,prints_AML1_Runt - no_errors RUNX2 HGNC ENSG00000124813 tier1 - - 28 0 0.00 40 11 21.57 108 0 0.00 91 40 30.30 USP31 0 genome.wustl.edu 37 16 23119385 23119387 + In_Frame_Del DEL ACT ACT - TCGA-3B-A9HZ-01A-11D-A38Z-09 TCGA-3B-A9HZ-10A-01D-A38Z-09 ACT ACT ACT - ACT ACT Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 22a78893-3edf-442b-ac7b-78d969165f30 fd3defe6-b6ae-4755-85f4-80f2321a7c99 16 23119385 23119387 ACT - DEL USP31 ENST00000219689 human ensembl 74_37 -1 known in_frame_del c.753_751 p.S251in_frame_del 0.614:0.991:0.997 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP31 HGNC ENSG00000103404 tier1 52 0 0.00 60 15 20.00 76 0 0.00 49 22 30.99 PTEN 0 genome.wustl.edu 37 10 89692791 89692791 + Missense_Mutation SNP A A T TCGA-3B-A9HZ-01A-11D-A38Z-09 TCGA-3B-A9HZ-10A-01D-A38Z-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 22a78893-3edf-442b-ac7b-78d969165f30 fd3defe6-b6ae-4755-85f4-80f2321a7c99 10 89692791 89692791 A T SNP PTEN ENST00000371953 human ensembl 74_37 +1 known missense c.275 p.D92V 1.000 pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Phosphatase_tensin-typ pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_dom,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors PTEN HGNC ENSG00000171862 tier1 - - 46 0 0.00 23 21 46.67 20 0 0.00 3 4 57.14 RFX7 0 genome.wustl.edu 37 15 56535479 56535479 + Missense_Mutation SNP G G A TCGA-3B-A9HZ-01A-11D-A38Z-09 TCGA-3B-A9HZ-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 22a78893-3edf-442b-ac7b-78d969165f30 fd3defe6-b6ae-4755-85f4-80f2321a7c99 15 56535479 56535479 G A SNP RFX7 ENST00000423270 human ensembl 74_37 -1 known missense c.5 p.A2V 1.000 NULL pfam_D-bd_RFX - no_errors RFX7 HGNC ENSG00000181827 tier1 - - 48 0 0.00 49 17 25.76 5 0 0.00 4 2 33.33 ADAM21P1 0 genome.wustl.edu 37 14 70714087 70714087 + R SNP T T G TCGA-3B-A9HZ-01A-11D-A38Z-09 TCGA-3B-A9HZ-10A-01D-A38Z-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 22a78893-3edf-442b-ac7b-78d969165f30 fd3defe6-b6ae-4755-85f4-80f2321a7c99 14 70714087 70714087 T G SNP ADAM21P1 ENST00000530196 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors ADAM21P1 HGNC ENSG00000235812 tier1 rs79122905 - 47 0 0.00 52 9 14.75 115 0 0.00 99 8 7.48 CCDC105 0 genome.wustl.edu 37 19 15132444 15132444 + Missense_Mutation SNP C C T TCGA-3B-A9HZ-01A-11D-A38Z-09 TCGA-3B-A9HZ-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 22a78893-3edf-442b-ac7b-78d969165f30 fd3defe6-b6ae-4755-85f4-80f2321a7c99 19 15132444 15132444 C T SNP CCDC105 ENST00000292574 human ensembl 74_37 +1 known missense c.1058 p.T353M 0.484 pfam_Tektin pfam_Tektin - no_errors CCDC105 HGNC ENSG00000160994 tier1 - - 113 0 0.00 81 38 31.93 151 2 1.31 101 29 21.97 ENSG00000221684 0 genome.wustl.edu 37 X 70979276 70979276 + R SNP A A G TCGA-3B-A9HZ-01A-11D-A38Z-09 TCGA-3B-A9HZ-10A-01D-A38Z-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22a78893-3edf-442b-ac7b-78d969165f30 fd3defe6-b6ae-4755-85f4-80f2321a7c99 X 70979276 70979276 A G SNP ENSG00000221684 ENST00000408757 human ensembl 74_37 -1 novel rna NULL NULL 0.001 - - - no_errors BX276092.1 Clone_based_ensembl_gene ENSG00000221684 tier1 rs67643106 - 39 0 0.00 39 6 13.33 0 0 0.00 0 0 0.00 FAM138D 0 genome.wustl.edu 37 12 148078 148078 + R SNP G G A TCGA-3B-A9HZ-01A-11D-A38Z-09 TCGA-3B-A9HZ-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22a78893-3edf-442b-ac7b-78d969165f30 fd3defe6-b6ae-4755-85f4-80f2321a7c99 12 148078 148078 G A SNP FAM138D ENST00000320165 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors FAM138D HGNC ENSG00000206114 tier1 rs8181620 - 13 0 0.00 4 4 50.00 0 0 0.00 0 0 0.00 MFSD12 0 genome.wustl.edu 37 19 3557210 3557212 + In_Frame_Del DEL CAG CAG - TCGA-3B-A9HZ-01A-11D-A38Z-09 TCGA-3B-A9HZ-10A-01D-A38Z-09 CAG CAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22a78893-3edf-442b-ac7b-78d969165f30 fd3defe6-b6ae-4755-85f4-80f2321a7c99 19 3557210 3557212 CAG - DEL MFSD12 ENST00000398558 human ensembl 74_37 -1 known in_frame_del c.192_190 p.L64in_frame_del 0.647:0.925:0.999 superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors MFSD12 HGNC ENSG00000161091 tier1 22 0 0.00 23 3 11.54 1 0 0.00 8 0 0.00 MON1A 0 genome.wustl.edu 37 3 49967152 49967152 + Silent SNP G G A TCGA-3B-A9HZ-01A-11D-A38Z-09 TCGA-3B-A9HZ-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22a78893-3edf-442b-ac7b-78d969165f30 fd3defe6-b6ae-4755-85f4-80f2321a7c99 3 49967152 49967152 G A SNP MON1A ENST00000296473 human ensembl 74_37 -1 known silent c.168 p.R56 0.002 NULL pfam_Vacuolar_fusion_protein_MON1,superfamily_Longin-like_dom,prints_Vacuolar_fusion_protein_MON1 - no_errors MON1A HGNC ENSG00000164077 tier1 - - 21 0 0.00 14 10 41.67 4 0 0.00 0 0 0.00 RN7SL495P 0 genome.wustl.edu 37 15 23263805 23263805 + R SNP G G A TCGA-3B-A9HZ-01A-11D-A38Z-09 TCGA-3B-A9HZ-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22a78893-3edf-442b-ac7b-78d969165f30 fd3defe6-b6ae-4755-85f4-80f2321a7c99 15 23263805 23263805 G A SNP RN7SL495P ENST00000461817 human ensembl 74_37 +1 known rna NULL NULL 0.404 - - - no_errors RN7SL495P HGNC ENSG00000244736 tier1 - - 53 0 0.00 66 23 25.84 0 0 0.00 0 0 0.00 DIS3L2 0 genome.wustl.edu 37 2 232995570 232995570 + R DEL A A - TCGA-3B-A9HZ-01A-11D-A38Z-09 TCGA-3B-A9HZ-10A-01D-A38Z-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 22a78893-3edf-442b-ac7b-78d969165f30 fd3defe6-b6ae-4755-85f4-80f2321a7c99 2 232995570 232995570 A - DEL DIS3L2 ENST00000470087 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors DIS3L2 HGNC ENSG00000144535 tier1 27 0 0.00 26 3 10.34 23 0 0.00 39 2 4.88