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 ENSG00000233836 0 genome.wustl.edu 37 19 24014700 24014700 + R SNP T T A TCGA-HB-A5W3-01A-11D-A29N-09 TCGA-HB-A5W3-10A-01D-A29N-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4d4eff82-ede0-47f1-b49a-ada025952114 546cfd48-e472-4186-a83a-09f5aef53000 19 24014700 24014700 T A SNP ENSG00000233836 ENST00000471224 human ensembl 74_37 +1 known rna NULL NULL 0.812 - - - no_errors RP11-255H23.2 Clone_based_vega_gene ENSG00000233836 tier1 - - 24 0 0.00 7 9 56.25 30 0 0.00 14 5 26.32 HRNR 0 genome.wustl.edu 37 1 152191612 152191612 + Silent SNP A A G TCGA-HB-A5W3-01A-11D-A29N-09 TCGA-HB-A5W3-10A-01D-A29N-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4d4eff82-ede0-47f1-b49a-ada025952114 546cfd48-e472-4186-a83a-09f5aef53000 1 152191612 152191612 A G SNP HRNR ENST00000368801 human ensembl 74_37 -1 known silent c.2493 p.H831 0.002 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors HRNR HGNC ENSG00000197915 tier1 - - 85 0 0.00 57 26 31.33 64 0 0.00 48 29 37.66 RUSC2 0 genome.wustl.edu 37 9 35560483 35560483 + Silent SNP C C T TCGA-HB-A5W3-01A-11D-A29N-09 TCGA-HB-A5W3-10A-01D-A29N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4d4eff82-ede0-47f1-b49a-ada025952114 546cfd48-e472-4186-a83a-09f5aef53000 9 35560483 35560483 C T SNP RUSC2 ENST00000361226 human ensembl 74_37 +1 known silent c.3846 p.I1282 0.938 NULL pfam_Run,pfam_SH3_2,superfamily_SH3_domain,smart_Run,smart_SH3_domain,pfscan_Run,pfscan_SH3_domain - no_errors RUSC2 HGNC ENSG00000198853 tier1 - - 44 0 0.00 29 22 43.14 42 0 0.00 38 27 41.54 NXF4 0 genome.wustl.edu 37 X 101821949 101821949 + R SNP C C T TCGA-HB-A5W3-01A-11D-A29N-09 TCGA-HB-A5W3-10A-01D-A29N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4d4eff82-ede0-47f1-b49a-ada025952114 546cfd48-e472-4186-a83a-09f5aef53000 X 101821949 101821949 C T SNP NXF4 ENST00000360035 human ensembl 74_37 +1 known rna NULL NULL 0.061 - - - no_errors NXF4 HGNC ENSG00000196970 tier1 - - 80 0 0.00 49 41 45.56 76 0 0.00 38 42 52.50 KDM5C 0 genome.wustl.edu 37 X 53239969 53239969 + Missense_Mutation SNP T T C TCGA-HB-A5W3-01A-11D-A29N-09 TCGA-HB-A5W3-10A-01D-A29N-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4d4eff82-ede0-47f1-b49a-ada025952114 546cfd48-e472-4186-a83a-09f5aef53000 X 53239969 53239969 T C SNP KDM5C ENST00000375401 human ensembl 74_37 -1 known missense c.1472 p.N491S 1.000 smart_JmjC_dom,pfscan_JmjC_dom pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_ARID/BRIGHT_D-bd,pfam_Znf_C5HC2,pfam_Znf_PHD-finger,pfam_TF_JmjN,superfamily_ARID/BRIGHT_D-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_D-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_D-bd - no_errors KDM5C HGNC ENSG00000126012 tier1 - - 45 0 0.00 18 15 45.45 72 0 0.00 53 31 36.90 KLHL11 0 genome.wustl.edu 37 17 40011164 40011164 + Missense_Mutation SNP C C G TCGA-HB-A5W3-01A-11D-A29N-09 TCGA-HB-A5W3-10A-01D-A29N-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4d4eff82-ede0-47f1-b49a-ada025952114 546cfd48-e472-4186-a83a-09f5aef53000 17 40011164 40011164 C G SNP KLHL11 ENST00000319121 human ensembl 74_37 -1 known missense c.955 p.V319L 0.997 NULL pfam_BACK,pfam_BTB_POZ,pfam_Kelch_1,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHL11 HGNC ENSG00000178502 tier1 - - 29 0 0.00 13 6 31.58 70 0 0.00 50 44 46.32 ABCC3 0 genome.wustl.edu 37 17 48757261 48757261 + Splice_Site SNP G G A TCGA-HB-A5W3-01A-11D-A29N-09 TCGA-HB-A5W3-10A-01D-A29N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4d4eff82-ede0-47f1-b49a-ada025952114 546cfd48-e472-4186-a83a-09f5aef53000 17 48757261 48757261 G A SNP ABCC3 ENST00000285238 human ensembl 74_37 +1 known splice_site c.3807+1 e26+1 1.000 - - - no_errors ABCC3 HGNC ENSG00000108846 tier1 - - 31 0 0.00 20 16 44.44 96 0 0.00 77 48 38.40 FRMD1 0 genome.wustl.edu 37 6 168461515 168461515 + Missense_Mutation SNP C C T TCGA-HB-A5W3-01A-11D-A29N-09 TCGA-HB-A5W3-10A-01D-A29N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4d4eff82-ede0-47f1-b49a-ada025952114 546cfd48-e472-4186-a83a-09f5aef53000 6 168461515 168461515 C T SNP FRMD1 ENST00000283309 human ensembl 74_37 -1 known missense c.1268 p.G423E 0.000 NULL pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain - no_errors FRMD1 HGNC ENSG00000153303 tier1 - - 83 0 0.00 63 44 41.12 36 0 0.00 19 18 48.65 ENSG00000212768 0 genome.wustl.edu 37 15 35271833 35271833 + Missense_Mutation SNP C C A TCGA-HB-A5W3-01A-11D-A29N-09 TCGA-HB-A5W3-10A-01D-A29N-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4d4eff82-ede0-47f1-b49a-ada025952114 546cfd48-e472-4186-a83a-09f5aef53000 15 35271833 35271833 C A SNP ENSG00000212768 ENST00000391457 human ensembl 74_37 +1 known missense c.60 p.S20R 0.003 NULL NULL - no_errors AC114546.1 Clone_based_ensembl_gene ENSG00000212768 tier1 - - 45 0 0.00 24 18 42.86 32 0 0.00 23 18 43.90 ZBBX 0 genome.wustl.edu 37 3 167031769 167031769 + Silent SNP A A G TCGA-HB-A5W3-01A-11D-A29N-09 TCGA-HB-A5W3-10A-01D-A29N-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4d4eff82-ede0-47f1-b49a-ada025952114 546cfd48-e472-4186-a83a-09f5aef53000 3 167031769 167031769 A G SNP ZBBX ENST00000307529 human ensembl 74_37 -1 known silent c.1410 p.N470 0.001 NULL pfam_Znf_B-box - no_errors ZBBX HGNC ENSG00000169064 tier1 - - 25 0 0.00 17 16 48.48 92 0 0.00 53 49 48.04 TP53 0 genome.wustl.edu 37 17 7579415 7579415 + Nonsense_Mutation SNP C C T TCGA-HB-A5W3-01A-11D-A29N-09 TCGA-HB-A5W3-10A-01D-A29N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4d4eff82-ede0-47f1-b49a-ada025952114 546cfd48-e472-4186-a83a-09f5aef53000 17 7579415 7579415 C T SNP TP53 ENST00000269305 human ensembl 74_37 -1 known nonsense c.272 p.W91* 1.000 NULL 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 - - 54 0 0.00 5 17 77.27 70 0 0.00 17 29 63.04 ANKRD44 0 genome.wustl.edu 37 2 197857417 197857417 + R SNP A A T TCGA-HB-A5W3-01A-11D-A29N-09 TCGA-HB-A5W3-10A-01D-A29N-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4d4eff82-ede0-47f1-b49a-ada025952114 546cfd48-e472-4186-a83a-09f5aef53000 2 197857417 197857417 A T SNP ANKRD44 ENST00000486006 human ensembl 74_37 -1 known rna NULL NULL 0.984 - - - no_errors ANKRD44 HGNC ENSG00000065413 tier1 - - 54 0 0.00 28 21 42.86 108 0 0.00 88 56 38.89 ARHGAP27 0 genome.wustl.edu 37 17 43474297 43474297 + Missense_Mutation SNP C C T TCGA-HB-A5W3-01A-11D-A29N-09 TCGA-HB-A5W3-10A-01D-A29N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4d4eff82-ede0-47f1-b49a-ada025952114 546cfd48-e472-4186-a83a-09f5aef53000 17 43474297 43474297 C T SNP ARHGAP27 ENST00000428638 human ensembl 74_37 -1 known missense c.1936 p.A646T 0.000 NULL pfam_RhoGAP_dom,pfam_WW_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_WW_dom,smart_WW_dom,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_WW_dom,pfscan_RhoGAP_dom - no_errors ARHGAP27 HGNC ENSG00000159314 tier1 - - 60 0 0.00 36 16 30.19 34 0 0.00 22 12 35.29 FKBP10 0 genome.wustl.edu 37 17 39976138 39976138 + Missense_Mutation SNP G G T TCGA-HB-A5W3-01A-11D-A29N-09 TCGA-HB-A5W3-10A-01D-A29N-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4d4eff82-ede0-47f1-b49a-ada025952114 546cfd48-e472-4186-a83a-09f5aef53000 17 39976138 39976138 G T SNP FKBP10 ENST00000544340 human ensembl 74_37 +1 known missense c.245 p.R82L 0.000 pfam_PPIase_FKBP_dom,pfscan_PPIase_FKBP_dom pfam_PPIase_FKBP_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_PPIase_FKBP_dom - no_errors FKBP10 HGNC ENSG00000141756 tier1 - - 34 0 0.00 10 14 58.33 67 0 0.00 67 36 34.95 ARL13A 0 genome.wustl.edu 37 X 100229170 100229170 + Silent SNP G G T TCGA-HB-A5W3-01A-11D-A29N-09 TCGA-HB-A5W3-10A-01D-A29N-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4d4eff82-ede0-47f1-b49a-ada025952114 546cfd48-e472-4186-a83a-09f5aef53000 X 100229170 100229170 G T SNP ARL13A ENST00000450457 human ensembl 74_37 +1 known silent c.114 p.V38 0.000 pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_MIRO-like,pfam_Small_GTPase,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,prints_Small_GTPase_ARF/SAR pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_MIRO-like,pfam_Small_GTPase,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,prints_Small_GTPase_ARF/SAR - no_errors ARL13A HGNC ENSG00000174225 tier1 - - 61 0 0.00 32 30 48.39 105 0 0.00 53 37 41.11 DMD 0 genome.wustl.edu 37 X 32481570 32481570 + Missense_Mutation SNP G G T TCGA-HB-A5W3-01A-11D-A29N-09 TCGA-HB-A5W3-10A-01D-A29N-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4d4eff82-ede0-47f1-b49a-ada025952114 546cfd48-e472-4186-a83a-09f5aef53000 X 32481570 32481570 G T SNP DMD ENST00000357033 human ensembl 74_37 -1 known missense c.3418 p.H1140N 0.016 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 tier1 - - 83 0 0.00 33 34 50.75 105 1 0.94 69 45 39.13 INPP4A 0 genome.wustl.edu 37 2 99169399 99169399 + Silent SNP C C T TCGA-HB-A5W3-01A-11D-A29N-09 TCGA-HB-A5W3-10A-01D-A29N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4d4eff82-ede0-47f1-b49a-ada025952114 546cfd48-e472-4186-a83a-09f5aef53000 2 99169399 99169399 C T SNP INPP4A ENST00000074304 human ensembl 74_37 +1 known silent c.1329 p.G443 0.990 NULL superfamily_C2_dom - no_errors INPP4A HGNC ENSG00000040933 tier1 - - 27 0 0.00 33 13 28.26 40 0 0.00 33 23 41.07 TYK2 0 genome.wustl.edu 37 19 10463145 10463145 + Silent SNP G G A TCGA-HB-A5W3-01A-11D-A29N-09 TCGA-HB-A5W3-10A-01D-A29N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4d4eff82-ede0-47f1-b49a-ada025952114 546cfd48-e472-4186-a83a-09f5aef53000 19 10463145 10463145 G A SNP TYK2 ENST00000264818 human ensembl 74_37 -1 known silent c.3283 p.L1095 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,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_Prot_kinase_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_TYK2_N - no_errors TYK2 HGNC ENSG00000105397 tier1 - - 63 0 0.00 41 29 41.43 39 0 0.00 33 30 47.62 MTNR1A 0 genome.wustl.edu 37 4 187454917 187454917 + Missense_Mutation SNP C C T TCGA-HB-A5W3-01A-11D-A29N-09 TCGA-HB-A5W3-10A-01D-A29N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4d4eff82-ede0-47f1-b49a-ada025952114 546cfd48-e472-4186-a83a-09f5aef53000 4 187454917 187454917 C T SNP MTNR1A ENST00000307161 human ensembl 74_37 -1 known missense c.979 p.V327M 0.049 prints_Mel_1A_rcpt,prints_Mel_rcpt_1C pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Melatonin_rcpt,prints_GPCR_Rhodpsn,prints_Mel_1A_rcpt,prints_NPY_rcpt,prints_Mel_rcpt_1C - no_errors MTNR1A HGNC ENSG00000168412 tier1 - - 83 0 0.00 48 36 42.86 109 0 0.00 59 70 53.85 LPPR5 0 genome.wustl.edu 37 1 99422183 99422183 + Nonsense_Mutation SNP G G A TCGA-HB-A5W3-01A-11D-A29N-09 TCGA-HB-A5W3-10A-01D-A29N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4d4eff82-ede0-47f1-b49a-ada025952114 546cfd48-e472-4186-a83a-09f5aef53000 1 99422183 99422183 G A SNP LPPR5 ENST00000263177 human ensembl 74_37 -1 known nonsense c.352 p.R118* 0.780 superfamily_P_Acid_Pase_2/haloperoxidase pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors LPPR5 Uniprot_gn ENSG00000117598 tier1 - - 51 0 0.00 21 10 32.26 101 0 0.00 70 45 39.13 PTPRM 0 genome.wustl.edu 37 18 8244162 8244162 + Missense_Mutation SNP G G A TCGA-HB-A5W3-01A-11D-A29N-09 TCGA-HB-A5W3-10A-01D-A29N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4d4eff82-ede0-47f1-b49a-ada025952114 546cfd48-e472-4186-a83a-09f5aef53000 18 8244162 8244162 G A SNP PTPRM ENST00000400060 human ensembl 74_37 +1 known missense c.2407 p.D803N 1.000 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRM HGNC ENSG00000173482 tier1 - - 47 0 0.00 24 24 50.00 80 0 0.00 33 39 54.17 MCF2 0 genome.wustl.edu 37 X 138678809 138678809 + Missense_Mutation SNP G G T TCGA-HB-A5W3-01A-11D-A29N-09 TCGA-HB-A5W3-10A-01D-A29N-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4d4eff82-ede0-47f1-b49a-ada025952114 546cfd48-e472-4186-a83a-09f5aef53000 X 138678809 138678809 G T SNP MCF2 ENST00000370578 human ensembl 74_37 -1 known missense c.2611 p.L871I 0.977 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors MCF2 HGNC ENSG00000101977 tier1 - - 80 0 0.00 28 28 50.00 68 0 0.00 67 31 31.63 MUC4 0 genome.wustl.edu 37 3 195516077 195516077 + Missense_Mutation SNP A A G TCGA-HB-A5W3-01A-11D-A29N-09 TCGA-HB-A5W3-10A-01D-A29N-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4d4eff82-ede0-47f1-b49a-ada025952114 546cfd48-e472-4186-a83a-09f5aef53000 3 195516077 195516077 A G SNP MUC4 ENST00000463781 human ensembl 74_37 -1 known missense c.2374 p.S792P 0.002 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 tier1 - - 21 0 0.00 9 15 60.00 71 0 0.00 58 30 34.09 TFDP1 0 genome.wustl.edu 37 13 114277516 114277516 + Missense_Mutation SNP T T G TCGA-HB-A5W3-01A-11D-A29N-09 TCGA-HB-A5W3-10A-01D-A29N-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4d4eff82-ede0-47f1-b49a-ada025952114 546cfd48-e472-4186-a83a-09f5aef53000 13 114277516 114277516 T G SNP TFDP1 ENST00000375370 human ensembl 74_37 +1 known missense c.101 p.V34G 1.000 pirsf_Transcrpt_fac_DP pfam_Transc_factor_DP_C,pfam_E2F_TDP,pirsf_Transcrpt_fac_DP - no_errors TFDP1 HGNC ENSG00000198176 tier1 - - 46 0 0.00 11 25 69.44 50 0 0.00 15 34 69.39 C20orf62 0 genome.wustl.edu 37 20 43080770 43080770 + Missense_Mutation SNP C C A TCGA-HB-A5W3-01A-11D-A29N-09 TCGA-HB-A5W3-10A-01D-A29N-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4d4eff82-ede0-47f1-b49a-ada025952114 546cfd48-e472-4186-a83a-09f5aef53000 20 43080770 43080770 C A SNP C20orf62 ENST00000306731 human ensembl 74_37 -1 putative missense c.218 p.S73I 0.000 NULL NULL - no_errors C20orf62 HGNC ENSG00000168746 tier1 - - 46 0 0.00 56 7 11.11 103 0 0.00 108 19 14.96 OR5M8 0 genome.wustl.edu 37 11 56258788 56258788 + Missense_Mutation SNP C C T TCGA-HB-A5W3-01A-11D-A29N-09 TCGA-HB-A5W3-10A-01D-A29N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4d4eff82-ede0-47f1-b49a-ada025952114 546cfd48-e472-4186-a83a-09f5aef53000 11 56258788 56258788 C T SNP OR5M8 ENST00000327216 human ensembl 74_37 -1 known missense c.59 p.R20Q 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5M8 HGNC ENSG00000181371 tier1 - - 18 0 0.00 7 9 56.25 39 0 0.00 23 12 34.29 SAG 0 genome.wustl.edu 37 2 234255546 234255546 + Silent SNP C C T TCGA-HB-A5W3-01A-11D-A29N-09 TCGA-HB-A5W3-10A-01D-A29N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4d4eff82-ede0-47f1-b49a-ada025952114 546cfd48-e472-4186-a83a-09f5aef53000 2 234255546 234255546 C T SNP SAG ENST00000409110 human ensembl 74_37 +1 known silent c.1206 p.D402 0.000 NULL pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set,prints_Arrestin - no_errors SAG HGNC ENSG00000130561 tier1 - - 63 0 0.00 35 29 45.31 71 0 0.00 44 49 52.69 SLC27A2 0 genome.wustl.edu 37 15 50515326 50515326 + Silent SNP T T C TCGA-HB-A5W3-01A-11D-A29N-09 TCGA-HB-A5W3-10A-01D-A29N-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4d4eff82-ede0-47f1-b49a-ada025952114 546cfd48-e472-4186-a83a-09f5aef53000 15 50515326 50515326 T C SNP SLC27A2 ENST00000267842 human ensembl 74_37 +1 known silent c.1137 p.G379 0.775 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors SLC27A2 HGNC ENSG00000140284 tier1 - - 43 0 0.00 33 22 40.00 85 0 0.00 62 44 41.51 ZHX1 0 genome.wustl.edu 37 8 124266184 124266185 + Frame_Shift_Ins INS - - T TCGA-HB-A5W3-01A-11D-A29N-09 TCGA-HB-A5W3-10A-01D-A29N-09 - - - T - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4d4eff82-ede0-47f1-b49a-ada025952114 546cfd48-e472-4186-a83a-09f5aef53000 8 124266184 124266185 - T INS ZHX1 ENST00000297857 human ensembl 74_37 -1 known frame_shift_ins c.2003_2002 p.T668fs 1.000:0.969 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZHX1 HGNC ENSG00000165156 tier1 63 0 0.00 33 12 26.67 98 0 0.00 64 29 31.18 ARHGEF17 0 genome.wustl.edu 37 11 73021059 73021059 + Missense_Mutation SNP G G T TCGA-HB-A5W3-01A-11D-A29N-09 TCGA-HB-A5W3-10A-01D-A29N-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4d4eff82-ede0-47f1-b49a-ada025952114 546cfd48-e472-4186-a83a-09f5aef53000 11 73021059 73021059 G T SNP ARHGEF17 ENST00000263674 human ensembl 74_37 +1 known missense c.1376 p.R459L 0.936 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,superfamily_Vinculin/catenin,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF17 HGNC ENSG00000110237 tier1 - - 31 0 0.00 9 11 55.00 77 0 0.00 7 49 87.50 DLK2 0 genome.wustl.edu 37 6 43420846 43420846 + Missense_Mutation SNP G G C TCGA-HB-A5W3-01A-11D-A29N-09 TCGA-HB-A5W3-10A-01D-A29N-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4d4eff82-ede0-47f1-b49a-ada025952114 546cfd48-e472-4186-a83a-09f5aef53000 6 43420846 43420846 G C SNP DLK2 ENST00000357338 human ensembl 74_37 -1 known missense c.168 p.H56Q 1.000 smart_EG-like_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors DLK2 HGNC ENSG00000171462 tier1 - - 23 0 0.00 4 11 73.33 22 0 0.00 4 8 66.67 LRRC20 0 genome.wustl.edu 37 10 72083656 72083656 + Silent SNP C C A TCGA-HB-A5W3-01A-11D-A29N-09 TCGA-HB-A5W3-10A-01D-A29N-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4d4eff82-ede0-47f1-b49a-ada025952114 546cfd48-e472-4186-a83a-09f5aef53000 10 72083656 72083656 C A SNP LRRC20 ENST00000355790 human ensembl 74_37 -1 known silent c.363 p.A121 0.006 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC20 HGNC ENSG00000172731 tier1 - - 31 0 0.00 9 13 59.09 56 0 0.00 4 17 80.95 CDH9 0 genome.wustl.edu 37 5 26890055 26890055 + Missense_Mutation SNP G G C TCGA-HB-A5W3-01A-11D-A29N-09 TCGA-HB-A5W3-10A-01D-A29N-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4d4eff82-ede0-47f1-b49a-ada025952114 546cfd48-e472-4186-a83a-09f5aef53000 5 26890055 26890055 G C SNP CDH9 ENST00000231021 human ensembl 74_37 -1 known missense c.1402 p.Q468E 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH9 HGNC ENSG00000113100 tier1 - - 63 0 0.00 96 10 9.43 119 0 0.00 214 21 8.90 PHYHIP 0 genome.wustl.edu 37 8 22079106 22079106 + Silent SNP G G A TCGA-HB-A5W3-01A-11D-A29N-09 TCGA-HB-A5W3-10A-01D-A29N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4d4eff82-ede0-47f1-b49a-ada025952114 546cfd48-e472-4186-a83a-09f5aef53000 8 22079106 22079106 G A SNP PHYHIP ENST00000454243 human ensembl 74_37 -1 known silent c.753 p.R251 0.060 NULL superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors PHYHIP HGNC ENSG00000168490 tier1 rs112627300 GMAF=0.0005 36 0 0.00 20 6 23.08 19 1 5.00 19 17 47.22 ENSG00000221121 0 genome.wustl.edu 37 12 82736380 82736385 + R DEL ATATAC ATATAC - TCGA-HB-A5W3-01A-11D-A29N-09 TCGA-HB-A5W3-10A-01D-A29N-09 ATATAC ATATAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d4eff82-ede0-47f1-b49a-ada025952114 546cfd48-e472-4186-a83a-09f5aef53000 12 82736380 82736385 ATATAC - DEL ENSG00000221121 ENST00000408194 human ensembl 74_37 -1 novel rna NULL NULL 0.012:0.010:0.008:0.005:0.002:0.001 - - - no_errors AC083811.1 Clone_based_ensembl_gene ENSG00000221121 tier1 0 0 0.00 0 0 0.00 0 0 0.00 0 0 0.00 LOC644794 0 genome.wustl.edu 37 7 66369212 66369213 + R INS - - GGCCTTTCCAGGCCCAGCTCTCGCCTCCCGGC TCGA-HB-A5W3-01A-11D-A29N-09 TCGA-HB-A5W3-10A-01D-A29N-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d4eff82-ede0-47f1-b49a-ada025952114 546cfd48-e472-4186-a83a-09f5aef53000 7 66369212 66369213 - GGCCTTTCCAGGCCCAGCTCTCGCCTCCCGGC INS LOC644794 ENST00000610177 human ensembl 74_37 +1 known rna NULL NULL 0.293:0.454 - - - no_errors RP11-458F8.4 Clone_based_vega_gene ENSG00000273142 tier1 0 0 0.00 1 0 0.00 0 0 0.00 1 0 0.00 NRXN1 0 genome.wustl.edu 37 2 50147836 50147853 + R DEL GTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGT - TCGA-HB-A5W3-01A-11D-A29N-09 TCGA-HB-A5W3-10A-01D-A29N-09 GTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d4eff82-ede0-47f1-b49a-ada025952114 546cfd48-e472-4186-a83a-09f5aef53000 2 50147836 50147853 GTGTGTGTGTGTGTGTGT - DEL NRXN1 ENST00000484192 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.001:0.005:0.106:0.113:0.127:0.107:0.109:0.093:0.096:0.025:0.055:0.070:0.324:0.354:0.283:0.295:0.258 - - - no_errors NRXN1 HGNC ENSG00000179915 tier1 0 0 0.00 0 0 0.00 0 0 0.00 0 0 0.00 R5-8SP6 0 genome.wustl.edu 37 Y 10037843 10037843 + R SNP C C T TCGA-HB-A5W3-01A-11D-A29N-09 TCGA-HB-A5W3-10A-01D-A29N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4d4eff82-ede0-47f1-b49a-ada025952114 546cfd48-e472-4186-a83a-09f5aef53000 Y 10037843 10037843 C T SNP R5-8SP6 ENST00000515896 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors R5-8SP6 HGNC ENSG00000251705 tier1 - - 64 0 0.00 50 5 9.09 2 0 0.00 1 0 0.00