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 APLP2 0 genome.wustl.edu 37 11 130003584 130003584 + Missense_Mutation SNP A A C TCGA-DX-A8BV-01A-11D-A37C-09 TCGA-DX-A8BV-10A-01D-A37F-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0853cc02-3315-40eb-8997-db4b02d27661 8533ae18-96d9-4fd5-b003-3dd8024121d2 11 130003584 130003584 A C SNP APLP2 ENST00000263574 human ensembl 74_37 +1 known missense c.1645 p.K549Q 1.000 superfamily_Amyloid_glyco_E2_domain pfam_Amyloid_glyco_heparin-bd,pfam_APP_amyloid_C,pfam_Prot_inh_Kunz-m,superfamily_Amyloid_glyco_E2_domain,superfamily_Amyloid_glyco_heparin-bd,superfamily_Amyloid_glyco_Cu-bd,superfamily_Prot_inh_Kunz-m,smart_Amyloid_glyco_extra,smart_Prot_inh_Kunz-m,prints_Amyloid_glyco,prints_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m - no_errors APLP2 HGNC ENSG00000084234 tier1 - - 43 0 0.00 16 8 33.33 106 0 0.00 66 25 27.47 ZNF175 0 genome.wustl.edu 37 19 52090690 52090690 + Missense_Mutation SNP G G T TCGA-DX-A8BV-01A-11D-A37C-09 TCGA-DX-A8BV-10A-01D-A37F-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0853cc02-3315-40eb-8997-db4b02d27661 8533ae18-96d9-4fd5-b003-3dd8024121d2 19 52090690 52090690 G T SNP ZNF175 ENST00000262259 human ensembl 74_37 +1 known missense c.1106 p.G369V 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 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 ZNF175 HGNC ENSG00000105497 tier1 - - 37 0 0.00 23 5 17.86 101 0 0.00 119 24 16.78 SIRPB2 0 genome.wustl.edu 37 20 1456846 1456846 + Missense_Mutation SNP A A C TCGA-DX-A8BV-01A-11D-A37C-09 TCGA-DX-A8BV-10A-01D-A37F-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0853cc02-3315-40eb-8997-db4b02d27661 8533ae18-96d9-4fd5-b003-3dd8024121d2 20 1456846 1456846 A C SNP SIRPB2 ENST00000359801 human ensembl 74_37 -1 known missense c.995 p.M332R 0.000 NULL pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIRPB2 HGNC ENSG00000196209 tier1 - - 52 0 0.00 30 8 21.05 36 0 0.00 32 12 27.27 P2RX7 0 genome.wustl.edu 37 12 121605337 121605337 + Missense_Mutation SNP G G A TCGA-DX-A8BV-01A-11D-A37C-09 TCGA-DX-A8BV-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0853cc02-3315-40eb-8997-db4b02d27661 8533ae18-96d9-4fd5-b003-3dd8024121d2 12 121605337 121605337 G A SNP P2RX7 ENST00000546057 human ensembl 74_37 +1 known missense c.791 p.R264H 0.000 pfam_P2X_purnocptor,tigrfam_P2X_purnocptor pfam_P2X_purnocptor,prints_P2X7_purnocptor,prints_P2X_purnocptor,tigrfam_P2X_purnocptor - no_errors P2RX7 HGNC ENSG00000089041 tier1 rs149639375 - 62 0 0.00 38 8 17.39 120 0 0.00 121 21 14.79 MARCH1 0 genome.wustl.edu 37 4 164533818 164533818 + Silent SNP G G A TCGA-DX-A8BV-01A-11D-A37C-09 TCGA-DX-A8BV-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0853cc02-3315-40eb-8997-db4b02d27661 8533ae18-96d9-4fd5-b003-3dd8024121d2 4 164533818 164533818 G A SNP MARCH1 ENST00000514618 human ensembl 74_37 -1 novel silent c.615 p.N205 0.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,pfscan_Znf_RING - no_errors MARCH1 HGNC ENSG00000145416 tier1 - - 55 0 0.00 47 11 18.64 72 0 0.00 88 17 16.04 CRYBA4 0 genome.wustl.edu 37 22 27026429 27026429 + Missense_Mutation SNP G G T TCGA-DX-A8BV-01A-11D-A37C-09 TCGA-DX-A8BV-10A-01D-A37F-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0853cc02-3315-40eb-8997-db4b02d27661 8533ae18-96d9-4fd5-b003-3dd8024121d2 22 27026429 27026429 G T SNP CRYBA4 ENST00000354760 human ensembl 74_37 +1 known missense c.569 p.S190I 0.995 pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYBA4 HGNC ENSG00000196431 tier1 - - 65 0 0.00 42 9 17.65 33 0 0.00 68 10 12.82 LAMC2 0 genome.wustl.edu 37 1 183212350 183212350 + Nonsense_Mutation SNP C C T TCGA-DX-A8BV-01A-11D-A37C-09 TCGA-DX-A8BV-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0853cc02-3315-40eb-8997-db4b02d27661 8533ae18-96d9-4fd5-b003-3dd8024121d2 1 183212350 183212350 C T SNP LAMC2 ENST00000264144 human ensembl 74_37 +1 known nonsense c.3397 p.Q1133* 0.346 NULL pfam_EGF_laminin,pfam_Laminin_B_type_IV,superfamily_Growth_fac_rcpt_N_dom,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin - no_errors LAMC2 HGNC ENSG00000058085 tier1 - - 37 0 0.00 40 17 29.82 37 0 0.00 69 19 21.59 ARAP1 0 genome.wustl.edu 37 11 72404505 72404505 + Silent SNP G G A TCGA-DX-A8BV-01A-11D-A37C-09 TCGA-DX-A8BV-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0853cc02-3315-40eb-8997-db4b02d27661 8533ae18-96d9-4fd5-b003-3dd8024121d2 11 72404505 72404505 G A SNP ARAP1 ENST00000393609 human ensembl 74_37 -1 known silent c.3819 p.V1273 0.993 NULL pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_Ras-assoc,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP - no_errors ARAP1 HGNC ENSG00000186635 tier1 - - 72 0 0.00 40 11 21.57 29 0 0.00 42 8 16.00 RARB 0 genome.wustl.edu 37 3 25636129 25636129 + Missense_Mutation SNP C C G TCGA-DX-A8BV-01A-11D-A37C-09 TCGA-DX-A8BV-10A-01D-A37F-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0853cc02-3315-40eb-8997-db4b02d27661 8533ae18-96d9-4fd5-b003-3dd8024121d2 3 25636129 25636129 C G SNP RARB ENST00000404969 human ensembl 74_37 +1 known missense c.1131 p.I377M 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt,prints_Nuc_orph_rcpt pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Nuc_orph_rcpt,prints_Retinoid-X_rcpt/HNF4 - no_errors RARB HGNC ENSG00000077092 tier1 - - 43 0 0.00 29 19 38.78 78 0 0.00 75 31 29.25 SLC10A7 0 genome.wustl.edu 37 4 147227160 147227160 + Missense_Mutation SNP A A G TCGA-DX-A8BV-01A-11D-A37C-09 TCGA-DX-A8BV-10A-01D-A37F-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0853cc02-3315-40eb-8997-db4b02d27661 8533ae18-96d9-4fd5-b003-3dd8024121d2 4 147227160 147227160 A G SNP SLC10A7 ENST00000394062 human ensembl 74_37 -1 known missense c.473 p.L158P 1.000 pfam_BilAc/Na_symport,pirsf_Put_Na-Bile_cotransptr pfam_BilAc/Na_symport,pirsf_Put_Na-Bile_cotransptr - no_errors SLC10A7 HGNC ENSG00000120519 tier1 - - 42 0 0.00 30 4 11.76 90 0 0.00 41 12 22.64 KIF3B 0 genome.wustl.edu 37 20 30917948 30917948 + Missense_Mutation SNP A A G TCGA-DX-A8BV-01A-11D-A37C-09 TCGA-DX-A8BV-10A-01D-A37F-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0853cc02-3315-40eb-8997-db4b02d27661 8533ae18-96d9-4fd5-b003-3dd8024121d2 20 30917948 30917948 A G SNP KIF3B ENST00000375712 human ensembl 74_37 +1 known missense c.1973 p.E658G 1.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF3B HGNC ENSG00000101350 tier1 - - 55 0 0.00 56 6 9.68 50 0 0.00 62 7 10.14 ACSL6 0 genome.wustl.edu 37 5 131298244 131298244 + Missense_Mutation SNP T T C TCGA-DX-A8BV-01A-11D-A37C-09 TCGA-DX-A8BV-10A-01D-A37F-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0853cc02-3315-40eb-8997-db4b02d27661 8533ae18-96d9-4fd5-b003-3dd8024121d2 5 131298244 131298244 T C SNP ACSL6 ENST00000296869 human ensembl 74_37 -1 known missense c.1841 p.H614R 1.000 NULL pfam_AMP-dep_Synth/Lig - no_errors ACSL6 HGNC ENSG00000164398 tier1 - - 27 0 0.00 38 5 11.63 84 0 0.00 94 22 18.97 ZFR 0 genome.wustl.edu 37 5 32379260 32379260 + Silent SNP G G A TCGA-DX-A8BV-01A-11D-A37C-09 TCGA-DX-A8BV-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0853cc02-3315-40eb-8997-db4b02d27661 8533ae18-96d9-4fd5-b003-3dd8024121d2 5 32379260 32379260 G A SNP ZFR ENST00000265069 human ensembl 74_37 -1 known silent c.2796 p.L932 0.993 pfam_DZF,smart_DZF pfam_DZF,pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like,smart_DZF - no_errors ZFR HGNC ENSG00000056097 tier1 - - 21 0 0.00 24 7 22.58 99 0 0.00 216 58 21.17 SRCIN1 0 genome.wustl.edu 37 17 36700164 36700164 + Missense_Mutation SNP G G A TCGA-DX-A8BV-01A-11D-A37C-09 TCGA-DX-A8BV-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0853cc02-3315-40eb-8997-db4b02d27661 8533ae18-96d9-4fd5-b003-3dd8024121d2 17 36700164 36700164 G A SNP SRCIN1 ENST00000264659 human ensembl 74_37 -1 known missense c.3311 p.P1104L 0.995 NULL pfam_AIP3_C - no_errors SRCIN1 HGNC ENSG00000017373 tier1 - - 137 0 0.00 101 43 29.86 15 0 0.00 17 14 45.16 CEACAM5 0 genome.wustl.edu 37 19 42224881 42224881 + Missense_Mutation SNP C C G TCGA-DX-A8BV-01A-11D-A37C-09 TCGA-DX-A8BV-10A-01D-A37F-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0853cc02-3315-40eb-8997-db4b02d27661 8533ae18-96d9-4fd5-b003-3dd8024121d2 19 42224881 42224881 C G SNP CEACAM5 ENST00000221992 human ensembl 74_37 +1 known missense c.1811 p.S604C 0.002 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors CEACAM5 HGNC ENSG00000105388 tier1 - - 79 0 0.00 54 7 11.48 87 0 0.00 123 21 14.48 IDH1 0 genome.wustl.edu 37 2 209110099 209110099 + Missense_Mutation SNP G G C TCGA-DX-A8BV-01A-11D-A37C-09 TCGA-DX-A8BV-10A-01D-A37F-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0853cc02-3315-40eb-8997-db4b02d27661 8533ae18-96d9-4fd5-b003-3dd8024121d2 2 209110099 209110099 G C SNP IDH1 ENST00000345146 human ensembl 74_37 -1 known missense c.464 p.T155S 1.000 pfam_IsoPropMal-DH-like_dom,pirsf_Isocitrate_DH_DP,tigrfam_Isocitrate_DH_DP pfam_IsoPropMal-DH-like_dom,pirsf_Isocitrate_DH_DP,tigrfam_Isocitrate_DH_DP - no_errors IDH1 HGNC ENSG00000138413 tier1 - - 56 0 0.00 27 24 47.06 135 0 0.00 84 57 40.43 OR56A3 0 genome.wustl.edu 37 11 5969152 5969152 + Silent SNP C C T TCGA-DX-A8BV-01A-11D-A37C-09 TCGA-DX-A8BV-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0853cc02-3315-40eb-8997-db4b02d27661 8533ae18-96d9-4fd5-b003-3dd8024121d2 11 5969152 5969152 C T SNP OR56A3 ENST00000329564 human ensembl 74_37 +1 known silent c.576 p.S192 0.998 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR56A3 HGNC ENSG00000184478 tier1 - - 53 0 0.00 17 8 32.00 73 0 0.00 70 25 26.32 CNTP5 0 genome.wustl.edu 37 2 125547486 125547486 + Silent SNP G G A TCGA-DX-A8BV-01A-11D-A37C-09 TCGA-DX-A8BV-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0853cc02-3315-40eb-8997-db4b02d27661 8533ae18-96d9-4fd5-b003-3dd8024121d2 2 125547486 125547486 G A SNP CNTP5 ENST00000431078 human ensembl 74_37 +1 known silent c.2757 p.T919 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTP5 HGNC ENSG00000155052 tier1 - - 45 0 0.00 26 6 18.75 83 0 0.00 56 40 41.67 PCDHGA4 0 genome.wustl.edu 37 5 140736262 140736262 + Missense_Mutation SNP G G A TCGA-DX-A8BV-01A-11D-A37C-09 TCGA-DX-A8BV-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0853cc02-3315-40eb-8997-db4b02d27661 8533ae18-96d9-4fd5-b003-3dd8024121d2 5 140736262 140736262 G A SNP PCDHGA4 ENST00000571252 human ensembl 74_37 +1 known missense c.1495 p.A499T 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA4 HGNC ENSG00000262576 tier1 - - 39 0 0.00 19 15 44.12 75 0 0.00 89 38 29.92 KRT12 0 genome.wustl.edu 37 17 39023145 39023145 + Silent SNP C C T TCGA-DX-A8BV-01A-11D-A37C-09 TCGA-DX-A8BV-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0853cc02-3315-40eb-8997-db4b02d27661 8533ae18-96d9-4fd5-b003-3dd8024121d2 17 39023145 39023145 C T SNP KRT12 ENST00000251643 human ensembl 74_37 -1 known silent c.294 p.G98 0.002 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT12 HGNC ENSG00000187242 tier1 - - 75 0 0.00 35 21 36.84 63 0 0.00 64 34 34.69 PCDHGA1 0 genome.wustl.edu 37 5 140710512 140710512 + Silent SNP G G A TCGA-DX-A8BV-01A-11D-A37C-09 TCGA-DX-A8BV-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0853cc02-3315-40eb-8997-db4b02d27661 8533ae18-96d9-4fd5-b003-3dd8024121d2 5 140710512 140710512 G A SNP PCDHGA1 ENST00000517417 human ensembl 74_37 +1 known silent c.261 p.A87 0.004 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA1 HGNC ENSG00000204956 tier1 - - 28 0 0.00 28 5 15.15 47 0 0.00 53 20 27.40 ENSG00000255641 0 genome.wustl.edu 37 12 10588425 10588425 + Missense_Mutation SNP C C T TCGA-DX-A8BV-01A-11D-A37C-09 TCGA-DX-A8BV-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0853cc02-3315-40eb-8997-db4b02d27661 8533ae18-96d9-4fd5-b003-3dd8024121d2 12 10588425 10588425 C T SNP ENSG00000255641 ENST00000539033 human ensembl 74_37 -1 known missense c.161 p.G54E 0.001 NULL pfam_C-type_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors NKG2-E Uniprot_gn ENSG00000255641 tier1 - - 109 0 0.00 60 13 17.81 59 0 0.00 27 6 18.18 BNIP2 0 genome.wustl.edu 37 15 59955820 59955820 + R SNP T T C TCGA-DX-A8BV-01A-11D-A37C-09 TCGA-DX-A8BV-10A-01D-A37F-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0853cc02-3315-40eb-8997-db4b02d27661 8533ae18-96d9-4fd5-b003-3dd8024121d2 15 59955820 59955820 T C SNP BNIP2 ENST00000478981 human ensembl 74_37 -1 known rna NULL NULL 0.931 - - - no_errors BNIP2 HGNC ENSG00000140299 tier1 - - 56 0 0.00 22 23 51.11 105 0 0.00 14 12 46.15 TM7SF2 0 genome.wustl.edu 37 11 64880999 64880999 + Missense_Mutation SNP T T A TCGA-DX-A8BV-01A-11D-A37C-09 TCGA-DX-A8BV-10A-01D-A37F-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0853cc02-3315-40eb-8997-db4b02d27661 8533ae18-96d9-4fd5-b003-3dd8024121d2 11 64880999 64880999 T A SNP TM7SF2 ENST00000279263 human ensembl 74_37 +1 known missense c.536 p.L179H 1.000 pfam_Ergosterol_biosynth_ERG4_ERG24 pfam_Ergosterol_biosynth_ERG4_ERG24,pfam_DUF1295 - no_errors TM7SF2 HGNC ENSG00000149809 tier1 - - 59 0 0.00 67 6 8.22 81 0 0.00 124 18 12.68 NRIP1 0 genome.wustl.edu 37 21 16338470 16338470 + Missense_Mutation SNP C C T TCGA-DX-A8BV-01A-11D-A37C-09 TCGA-DX-A8BV-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0853cc02-3315-40eb-8997-db4b02d27661 8533ae18-96d9-4fd5-b003-3dd8024121d2 21 16338470 16338470 C T SNP NRIP1 ENST00000318948 human ensembl 74_37 -1 known missense c.2044 p.E682K 0.997 NULL NULL - no_errors NRIP1 HGNC ENSG00000180530 tier1 - - 46 0 0.00 38 17 30.91 79 0 0.00 79 35 30.70 IGF2BP3 0 genome.wustl.edu 37 7 23509681 23509681 + Missense_Mutation SNP C C A TCGA-DX-A8BV-01A-11D-A37C-09 TCGA-DX-A8BV-10A-01D-A37F-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0853cc02-3315-40eb-8997-db4b02d27661 8533ae18-96d9-4fd5-b003-3dd8024121d2 7 23509681 23509681 C A SNP IGF2BP3 ENST00000258729 human ensembl 74_37 -1 known missense c.49 p.D17Y 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_KH_dom_type_1,pfam_RRM_dom,smart_RRM_dom,smart_KH_dom,pfscan_KH_dom_type_1,pfscan_RRM_dom - no_errors IGF2BP3 HGNC ENSG00000136231 tier1 - - 91 0 0.00 45 6 11.76 59 0 0.00 46 9 16.07 NRIP1 0 genome.wustl.edu 37 21 16337345 16337345 + Missense_Mutation SNP C C G TCGA-DX-A8BV-01A-11D-A37C-09 TCGA-DX-A8BV-10A-01D-A37F-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0853cc02-3315-40eb-8997-db4b02d27661 8533ae18-96d9-4fd5-b003-3dd8024121d2 21 16337345 16337345 C G SNP NRIP1 ENST00000318948 human ensembl 74_37 -1 known missense c.3169 p.D1057H 1.000 NULL NULL - no_errors NRIP1 HGNC ENSG00000180530 tier1 - - 77 0 0.00 77 24 23.76 86 0 0.00 114 38 25.00 SARDH 0 genome.wustl.edu 37 9 136573521 136573521 + Missense_Mutation SNP G G C TCGA-DX-A8BV-01A-11D-A37C-09 TCGA-DX-A8BV-10A-01D-A37F-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0853cc02-3315-40eb-8997-db4b02d27661 8533ae18-96d9-4fd5-b003-3dd8024121d2 9 136573521 136573521 G C SNP SARDH ENST00000371872 human ensembl 74_37 -1 known missense c.1358 p.P453R 0.040 NULL pfam_FAD-dep_OxRdtase,pfam_GCV_T_N,pfam_GCV_T_C - no_errors SARDH HGNC ENSG00000123453 tier1 - - 73 0 0.00 64 15 18.99 41 0 0.00 53 10 15.87 ZNF718 0 genome.wustl.edu 37 4 155020 155020 + R SNP T T C TCGA-DX-A8BV-01A-11D-A37C-09 TCGA-DX-A8BV-10A-01D-A37F-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0853cc02-3315-40eb-8997-db4b02d27661 8533ae18-96d9-4fd5-b003-3dd8024121d2 4 155020 155020 T C SNP ZNF718 ENST00000400172 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors ZNF718 HGNC ENSG00000250312 tier1 - - 39 0 0.00 11 3 21.43 76 0 0.00 77 17 18.09 C1orf173 0 genome.wustl.edu 37 1 75038857 75038857 + Missense_Mutation SNP T T A TCGA-DX-A8BV-01A-11D-A37C-09 TCGA-DX-A8BV-10A-01D-A37F-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0853cc02-3315-40eb-8997-db4b02d27661 8533ae18-96d9-4fd5-b003-3dd8024121d2 1 75038857 75038857 T A SNP C1orf173 ENST00000326665 human ensembl 74_37 -1 known missense c.2537 p.E846V 0.966 NULL NULL - no_errors C1orf173 HGNC ENSG00000178965 tier1 - - 61 0 0.00 31 5 13.89 42 0 0.00 38 7 15.56 PLCXD3 0 genome.wustl.edu 37 5 41313778 41313778 + Missense_Mutation SNP A A T TCGA-DX-A8BV-01A-11D-A37C-09 TCGA-DX-A8BV-10A-01D-A37F-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0853cc02-3315-40eb-8997-db4b02d27661 8533ae18-96d9-4fd5-b003-3dd8024121d2 5 41313778 41313778 A T SNP PLCXD3 ENST00000328457 human ensembl 74_37 -1 known missense c.907 p.F303I 1.000 superfamily_PLC-like_Pdiesterase_TIM-brl pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom - no_errors PLCXD3 HGNC ENSG00000182836 tier1 - - 34 0 0.00 33 12 26.67 69 0 0.00 127 26 16.99 HSF2BP 0 genome.wustl.edu 37 21 44949728 44949728 + Missense_Mutation SNP C C T TCGA-DX-A8BV-01A-11D-A37C-09 TCGA-DX-A8BV-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0853cc02-3315-40eb-8997-db4b02d27661 8533ae18-96d9-4fd5-b003-3dd8024121d2 21 44949728 44949728 C T SNP HSF2BP ENST00000291560 human ensembl 74_37 -1 known missense c.911 p.R304H 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HSF2BP HGNC ENSG00000160207 tier1 rs145814386 - 84 0 0.00 73 16 17.98 53 0 0.00 77 18 18.95 ENSG00000244151 0 genome.wustl.edu 37 7 150772280 150772280 + R SNP G G C TCGA-DX-A8BV-01A-11D-A37C-09 TCGA-DX-A8BV-10A-01D-A37F-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0853cc02-3315-40eb-8997-db4b02d27661 8533ae18-96d9-4fd5-b003-3dd8024121d2 7 150772280 150772280 G C SNP ENSG00000244151 ENST00000485974 human ensembl 74_37 -1 known rna NULL NULL 0.056 - - - no_errors RP11-148K1.12 Clone_based_vega_gene ENSG00000244151 tier1 - - 50 0 0.00 21 11 34.38 46 0 0.00 34 23 40.35 ANKRD36BP1 0 genome.wustl.edu 37 1 168216218 168216218 + R SNP A A G TCGA-DX-A8BV-01A-11D-A37C-09 TCGA-DX-A8BV-10A-01D-A37F-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0853cc02-3315-40eb-8997-db4b02d27661 8533ae18-96d9-4fd5-b003-3dd8024121d2 1 168216218 168216218 A G SNP ANKRD36BP1 ENST00000358576 human ensembl 74_37 -1 known rna NULL NULL 0.294 - - - no_errors ANKRD36BP1 HGNC ENSG00000214262 tier1 - - 86 0 0.00 132 13 8.97 67 0 0.00 79 17 17.53 TP53 0 genome.wustl.edu 37 17 7578212 7578212 + Nonsense_Mutation SNP G G A TCGA-DX-A8BV-01A-11D-A37C-09 TCGA-DX-A8BV-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0853cc02-3315-40eb-8997-db4b02d27661 8533ae18-96d9-4fd5-b003-3dd8024121d2 17 7578212 7578212 G A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known nonsense c.637 p.R213* 0.893 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 - - 85 0 0.00 21 48 69.57 101 0 0.00 56 100 63.69 SPATA31E1 0 genome.wustl.edu 37 9 90500141 90500141 + Missense_Mutation SNP C C A TCGA-DX-A8BV-01A-11D-A37C-09 TCGA-DX-A8BV-10A-01D-A37F-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0853cc02-3315-40eb-8997-db4b02d27661 8533ae18-96d9-4fd5-b003-3dd8024121d2 9 90500141 90500141 C A SNP SPATA31E1 ENST00000325643 human ensembl 74_37 +1 known missense c.739 p.Q247K 0.001 NULL NULL - no_errors SPATA31E1 HGNC ENSG00000177992 tier1 - - 49 0 0.00 41 7 14.58 72 0 0.00 78 24 23.53 PABPC4L 0 genome.wustl.edu 37 4 135121102 135121102 + Missense_Mutation SNP C C A TCGA-DX-A8BV-01A-11D-A37C-09 TCGA-DX-A8BV-10A-01D-A37F-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0853cc02-3315-40eb-8997-db4b02d27661 8533ae18-96d9-4fd5-b003-3dd8024121d2 4 135121102 135121102 C A SNP PABPC4L ENST00000529122 human ensembl 74_37 -1 known missense c.1247 p.G416V 1.000 pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234 pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom,tigrfam_PABP_1234 - no_errors PABPC4L HGNC ENSG00000254535 tier1 - - 36 0 0.00 12 8 40.00 87 0 0.00 60 25 29.41 LRP5 0 genome.wustl.edu 37 11 68115452 68115452 + Missense_Mutation SNP G G T TCGA-DX-A8BV-01A-11D-A37C-09 TCGA-DX-A8BV-10A-01D-A37F-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0853cc02-3315-40eb-8997-db4b02d27661 8533ae18-96d9-4fd5-b003-3dd8024121d2 11 68115452 68115452 G T SNP LRP5 ENST00000294304 human ensembl 74_37 +1 known missense c.229 p.V77L 0.989 pirsf_Low_density_Lipo_rcpt-rel_p5/6,smart_LDLR_classB_rpt pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP5 HGNC ENSG00000162337 tier1 - - 56 0 0.00 38 9 19.15 62 0 0.00 79 13 14.13 C9 0 genome.wustl.edu 37 5 39342252 39342252 + Missense_Mutation SNP C C G TCGA-DX-A8BV-01A-11D-A37C-09 TCGA-DX-A8BV-10A-01D-A37F-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0853cc02-3315-40eb-8997-db4b02d27661 8533ae18-96d9-4fd5-b003-3dd8024121d2 5 39342252 39342252 C G SNP C9 ENST00000263408 human ensembl 74_37 -1 known missense c.124 p.D42H 1.000 superfamily_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_MACPF,pfam_LDrepeatLR_classA_rpt,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,prints_MAC_perforin,pfscan_LDrepeatLR_classA_rpt,pfscan_Thrombospondin_1_rpt - no_errors C9 HGNC ENSG00000113600 tier1 - - 58 0 0.00 93 10 9.71 52 0 0.00 158 21 11.73 TMEM199 0 genome.wustl.edu 37 17 26685947 26685947 + Missense_Mutation SNP C C G TCGA-DX-A8BV-01A-11D-A37C-09 TCGA-DX-A8BV-10A-01D-A37F-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0853cc02-3315-40eb-8997-db4b02d27661 8533ae18-96d9-4fd5-b003-3dd8024121d2 17 26685947 26685947 C G SNP TMEM199 ENST00000509083 human ensembl 74_37 +1 known missense c.220 p.L74V 0.018 NULL pfam_ATPase_Vma12 - no_errors TMEM199 HGNC ENSG00000244045 tier1 - - 55 0 0.00 32 10 23.81 109 0 0.00 122 25 17.01 ANKUB1 0 genome.wustl.edu 37 3 149485707 149485707 + Missense_Mutation SNP C C T TCGA-DX-A8BV-01A-11D-A37C-09 TCGA-DX-A8BV-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0853cc02-3315-40eb-8997-db4b02d27661 8533ae18-96d9-4fd5-b003-3dd8024121d2 3 149485707 149485707 C T SNP ANKUB1 ENST00000446160 human ensembl 74_37 -1 known missense c.742 p.A248T 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ubiquitin_supergroup - no_errors ANKUB1 HGNC ENSG00000206199 tier1 - - 45 0 0.00 33 4 10.81 33 0 0.00 50 13 20.63 SULT1E1 0 genome.wustl.edu 37 4 70715166 70715166 + Missense_Mutation SNP A A T TCGA-DX-A8BV-01A-11D-A37C-09 TCGA-DX-A8BV-10A-01D-A37F-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0853cc02-3315-40eb-8997-db4b02d27661 8533ae18-96d9-4fd5-b003-3dd8024121d2 4 70715166 70715166 A T SNP SULT1E1 ENST00000226444 human ensembl 74_37 -1 known missense c.485 p.M162K 1.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors SULT1E1 HGNC ENSG00000109193 tier1 - - 96 0 0.00 82 18 18.00 85 0 0.00 56 13 18.84 C1orf21 0 genome.wustl.edu 37 1 184588751 184588751 + R SNP A A G TCGA-DX-A8BV-01A-11D-A37C-09 TCGA-DX-A8BV-10A-01D-A37F-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0853cc02-3315-40eb-8997-db4b02d27661 8533ae18-96d9-4fd5-b003-3dd8024121d2 1 184588751 184588751 A G SNP C1orf21 ENST00000367514 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors C1orf21 HGNC ENSG00000116667 tier1 - - 54 0 0.00 34 23 39.66 170 0 0.00 125 91 42.13 HMCN1 0 genome.wustl.edu 37 1 186089277 186089277 + Missense_Mutation SNP G G A TCGA-DX-A8BV-01A-11D-A37C-09 TCGA-DX-A8BV-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0853cc02-3315-40eb-8997-db4b02d27661 8533ae18-96d9-4fd5-b003-3dd8024121d2 1 186089277 186089277 G A SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known missense c.12229 p.V4077I 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors HMCN1 HGNC ENSG00000143341 tier1 - - 71 0 0.00 48 30 38.46 102 0 0.00 98 55 35.95 RIN2 0 genome.wustl.edu 37 20 19970901 19970901 + Missense_Mutation SNP A A G TCGA-DX-A8BV-01A-11D-A37C-09 TCGA-DX-A8BV-10A-01D-A37F-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0853cc02-3315-40eb-8997-db4b02d27661 8533ae18-96d9-4fd5-b003-3dd8024121d2 20 19970901 19970901 A G SNP RIN2 ENST00000255006 human ensembl 74_37 +1 known missense c.2161 p.M721V 1.000 pfam_VPS9,smart_VPS9_subgr,pfscan_VPS9 pfam_VPS9,pfam_Ras-assoc,smart_VPS9_subgr,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SH2,pfscan_VPS9 - no_errors RIN2 HGNC ENSG00000132669 tier1 - - 40 0 0.00 16 4 20.00 53 0 0.00 40 12 23.08 SCN2A 0 genome.wustl.edu 37 2 166223861 166223861 + Missense_Mutation SNP C C A TCGA-DX-A8BV-01A-11D-A37C-09 TCGA-DX-A8BV-10A-01D-A37F-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0853cc02-3315-40eb-8997-db4b02d27661 8533ae18-96d9-4fd5-b003-3dd8024121d2 2 166223861 166223861 C A SNP SCN2A ENST00000283256 human ensembl 74_37 +1 known missense c.3655 p.L1219M 1.000 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN2A HGNC ENSG00000136531 tier1 - - 61 0 0.00 42 5 10.64 62 0 0.00 100 16 13.79 FAM86JP 0 genome.wustl.edu 37 3 125648532 125648532 + R SNP C C T TCGA-DX-A8BV-01A-11D-A37C-09 TCGA-DX-A8BV-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0853cc02-3315-40eb-8997-db4b02d27661 8533ae18-96d9-4fd5-b003-3dd8024121d2 3 125648532 125648532 C T SNP FAM86JP ENST00000467239 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors FAM86JP HGNC ENSG00000171084 tier1 - - 43 0 0.00 36 16 30.77 60 0 0.00 40 21 34.43 ENSG00000229047 0 genome.wustl.edu 37 21 16333666 16333666 + R SNP C C T TCGA-DX-A8BV-01A-11D-A37C-09 TCGA-DX-A8BV-10A-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0853cc02-3315-40eb-8997-db4b02d27661 8533ae18-96d9-4fd5-b003-3dd8024121d2 21 16333666 16333666 C T SNP ENSG00000229047 ENST00000446301 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors AF127577.10 Clone_based_vega_gene ENSG00000229047 tier1 - - 41 0 0.00 38 6 13.64 64 0 0.00 26 9 25.71 ATRX 0 genome.wustl.edu 37 X 76937766 76937769 + Frame_Shift_Del DEL TTTC TTTC - TCGA-DX-A8BV-01A-11D-A37C-09 TCGA-DX-A8BV-10A-01D-A37F-09 TTTC TTTC TTTC - TTTC TTTC Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0853cc02-3315-40eb-8997-db4b02d27661 8533ae18-96d9-4fd5-b003-3dd8024121d2 X 76937766 76937769 TTTC - DEL ATRX ENST00000373344 human ensembl 74_37 -1 known frame_shift_del c.2982_2979 p.K993fs 0.936:0.944:0.949:0.993 NULL pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ATRX HGNC ENSG00000085224 tier1 41 0 0.00 13 13 50.00 51 0 0.00 16 18 52.94 HNRNPA0 0 genome.wustl.edu 37 5 137089075 137089076 + In_Frame_Ins INS - - CCG TCGA-DX-A8BV-01A-11D-A37C-09 TCGA-DX-A8BV-10A-01D-A37F-09 - - - CCG - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0853cc02-3315-40eb-8997-db4b02d27661 8533ae18-96d9-4fd5-b003-3dd8024121d2 5 137089075 137089076 - CCG INS HNRNPA0 ENST00000314940 human ensembl 74_37 -1 known in_frame_ins c.681_680 p.231in_frame_insG 0.019:0.578 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPA0 HGNC ENSG00000177733 tier1 12 0 0.00 9 4 30.77 12 0 0.00 13 2 13.33 DHX37 0 genome.wustl.edu 37 12 125436983 125436983 + Silent SNP G G A TCGA-DX-A8BV-01A-11D-A37C-09 TCGA-DX-A8BV-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0853cc02-3315-40eb-8997-db4b02d27661 8533ae18-96d9-4fd5-b003-3dd8024121d2 12 125436983 125436983 G A SNP DHX37 ENST00000308736 human ensembl 74_37 -1 known silent c.2829 p.S943 0.290 pfam_DUF1605,superfamily_P-loop_NTPase pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_D/R_helicase_DEAD/DEAH_N,pfam_T2SS_protein-E,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX37 HGNC ENSG00000150990 tier1 - - 35 0 0.00 19 10 34.48 10 0 0.00 8 4 33.33 CCL15 0 genome.wustl.edu 37 17 34324877 34324877 + Missense_Mutation SNP G G A TCGA-DX-A8BV-01A-11D-A37C-09 TCGA-DX-A8BV-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0853cc02-3315-40eb-8997-db4b02d27661 8533ae18-96d9-4fd5-b003-3dd8024121d2 17 34324877 34324877 G A SNP CCL15 ENST00000354059 human ensembl 74_37 -1 known missense c.268 p.R90W 0.000 pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom - no_errors CCL15 HGNC ENSG00000267596 tier1 rs138739843 - 60 0 0.00 54 9 14.06 98 1 1.01 109 12 9.92 OR10C1 0 genome.wustl.edu 37 6 29407999 29407999 + Missense_Mutation SNP G G C TCGA-DX-A8BV-01A-11D-A37C-09 TCGA-DX-A8BV-10A-01D-A37F-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0853cc02-3315-40eb-8997-db4b02d27661 8533ae18-96d9-4fd5-b003-3dd8024121d2 6 29407999 29407999 G C SNP OR10C1 ENST00000444197 human ensembl 74_37 +1 known missense c.207 p.E69D 0.558 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR10C1 HGNC ENSG00000206474 tier1 - - 56 0 0.00 42 6 12.50 47 0 0.00 60 4 6.25 OR14K1 0 genome.wustl.edu 37 1 247902370 247902370 + Missense_Mutation SNP G G C TCGA-DX-A8BV-01A-11D-A37C-09 TCGA-DX-A8BV-10A-01D-A37F-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0853cc02-3315-40eb-8997-db4b02d27661 8533ae18-96d9-4fd5-b003-3dd8024121d2 1 247902370 247902370 G C SNP OR14K1 ENST00000283225 human ensembl 74_37 +1 known missense c.454 p.A152P 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR14K1 HGNC ENSG00000153230 tier1 - - 50 0 0.00 38 13 25.49 57 0 0.00 63 5 7.35 LILRB5 0 genome.wustl.edu 37 19 54758267 54758267 + Missense_Mutation SNP C C A TCGA-DX-A8BV-01A-11D-A37C-09 TCGA-DX-A8BV-10A-01D-A37F-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0853cc02-3315-40eb-8997-db4b02d27661 8533ae18-96d9-4fd5-b003-3dd8024121d2 19 54758267 54758267 C A SNP LILRB5 ENST00000450632 human ensembl 74_37 -1 known missense c.1240 p.D414Y 0.000 NULL smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LILRB5 HGNC ENSG00000105609 tier1 - - 61 0 0.00 40 8 16.67 93 0 0.00 106 6 5.36 MAPKBP1 0 genome.wustl.edu 37 15 42106769 42106769 + Silent SNP G G A TCGA-DX-A8BV-01A-11D-A37C-09 TCGA-DX-A8BV-10A-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0853cc02-3315-40eb-8997-db4b02d27661 8533ae18-96d9-4fd5-b003-3dd8024121d2 15 42106769 42106769 G A SNP MAPKBP1 ENST00000456763 human ensembl 74_37 +1 known silent c.1020 p.A340 0.547 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors MAPKBP1 HGNC ENSG00000137802 tier1 - - 71 0 0.00 39 10 20.41 53 1 1.85 97 10 9.35 PKMYT1 0 genome.wustl.edu 37 16 3022637 3022637 + Frame_Shift_Del DEL G G - TCGA-DX-A8BV-01A-11D-A37C-09 TCGA-DX-A8BV-10A-01D-A37F-09 G G G - G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 0853cc02-3315-40eb-8997-db4b02d27661 8533ae18-96d9-4fd5-b003-3dd8024121d2 16 3022637 3022637 G - DEL PKMYT1 ENST00000431515 human ensembl 74_37 -1 putative frame_shift_del c.1507 p.R503fs 0.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors PKMYT1 HGNC ENSG00000127564 tier1 44 0 0.00 31 6 16.22 100 0 0.00 91 6 6.19 ENSG00000238009 0 genome.wustl.edu 37 1 133414 133414 + R SNP T T G TCGA-DX-A8BV-01A-11D-A37C-09 TCGA-DX-A8BV-10A-01D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0853cc02-3315-40eb-8997-db4b02d27661 8533ae18-96d9-4fd5-b003-3dd8024121d2 1 133414 133414 T G SNP ENSG00000238009 ENST00000453576 human ensembl 74_37 -1 known rna NULL NULL 0.955 - - - no_errors RP11-34P13.7 Clone_based_vega_gene ENSG00000238009 tier1 - - 73 0 0.00 80 17 17.53 0 0 0.00 0 0 0.00 KC5 0 genome.wustl.edu 37 12 5153524 5153524 + Missense_Mutation SNP C C A TCGA-DX-A8BV-01A-11D-A37C-09 TCGA-DX-A8BV-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0853cc02-3315-40eb-8997-db4b02d27661 8533ae18-96d9-4fd5-b003-3dd8024121d2 12 5153524 5153524 C A SNP KC5 ENST00000252321 human ensembl 74_37 +1 known missense c.211 p.P71T 0.043 NULL pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,pfam_PKD1_2_channel,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.5,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KC5 HGNC ENSG00000130037 tier1 - - 29 0 0.00 15 5 25.00 2 0 0.00 2 0 0.00 MAGEL2 0 genome.wustl.edu 37 15 23890932 23890932 + Missense_Mutation SNP G G C TCGA-DX-A8BV-01A-11D-A37C-09 TCGA-DX-A8BV-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0853cc02-3315-40eb-8997-db4b02d27661 8533ae18-96d9-4fd5-b003-3dd8024121d2 15 23890932 23890932 G C SNP MAGEL2 ENST00000532292 human ensembl 74_37 -1 known missense c.149 p.P50R 0.068 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEL2 HGNC ENSG00000254585 tier1 - - 46 0 0.00 24 8 25.00 0 0 0.00 1 0 0.00 MUC4 0 genome.wustl.edu 37 3 195508545 195508546 + Frame_Shift_Ins INS - - G TCGA-DX-A8BV-01A-11D-A37C-09 TCGA-DX-A8BV-10A-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0853cc02-3315-40eb-8997-db4b02d27661 8533ae18-96d9-4fd5-b003-3dd8024121d2 3 195508545 195508546 - G INS MUC4 ENST00000463781 human ensembl 74_37 -1 known frame_shift_ins c.9906_9905 p.S3303fs 0.002:0.002 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 44 0 0.00 22 3 12.00 1 0 0.00 0 0 0.00 WASH3P 0 genome.wustl.edu 37 15 102513202 102513202 + R DEL C C - TCGA-DX-A8BV-01A-11D-A37C-09 TCGA-DX-A8BV-10A-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0853cc02-3315-40eb-8997-db4b02d27661 8533ae18-96d9-4fd5-b003-3dd8024121d2 15 102513202 102513202 C - DEL WASH3P ENST00000354296 human ensembl 74_37 +1 known rna NULL NULL 0.994 - - - no_errors WASH3P HGNC ENSG00000185596 tier1 19 0 0.00 13 5 27.78 0 0 0.00 0 0 0.00 TRIM46 0 genome.wustl.edu 37 1 155147426 155147426 + R SNP G G T TCGA-DX-A8BV-01A-11D-A37C-09 TCGA-DX-A8BV-10A-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0853cc02-3315-40eb-8997-db4b02d27661 8533ae18-96d9-4fd5-b003-3dd8024121d2 1 155147426 155147426 G T SNP TRIM46 ENST00000468878 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors TRIM46 HGNC ENSG00000163462 tier1 - - 37 0 0.00 36 10 21.74 17 0 0.00 23 2 8.00