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 PNMA3 0 genome.wustl.edu 37 X 152226127 152226127 + Missense_Mutation SNP G G C TCGA-WK-A8XS-01A-11D-A37C-09 TCGA-WK-A8XS-10E-01D-A37F-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e69af2f0-d12a-43e8-9ad7-52c69c4dd6cf 4942810b-91b3-42b0-b774-741d0c2aed08 X 152226127 152226127 G C SNP PNMA3 ENST00000370264 human ensembl 74_37 +1 known missense c.715 p.V239L 0.039 NULL superfamily_Znf_CCHC,pfscan_Znf_CCHC - no_errors PNMA3 HGNC ENSG00000183837 tier1 - - 44 0 0.00 28 24 46.15 118 1 0.84 101 72 41.62 GPHB5 0 genome.wustl.edu 37 14 63784386 63784386 + R SNP C C A TCGA-WK-A8XS-01A-11D-A37C-09 TCGA-WK-A8XS-10E-01D-A37F-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e69af2f0-d12a-43e8-9ad7-52c69c4dd6cf 4942810b-91b3-42b0-b774-741d0c2aed08 14 63784386 63784386 C A SNP GPHB5 ENST00000314140 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors GPHB5 HGNC ENSG00000179600 tier1 - - 63 0 0.00 60 22 26.83 48 0 0.00 64 12 15.79 MYO6 0 genome.wustl.edu 37 6 76599937 76599937 + Missense_Mutation SNP A A C TCGA-WK-A8XS-01A-11D-A37C-09 TCGA-WK-A8XS-10E-01D-A37F-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e69af2f0-d12a-43e8-9ad7-52c69c4dd6cf 4942810b-91b3-42b0-b774-741d0c2aed08 6 76599937 76599937 A C SNP MYO6 ENST00000369981 human ensembl 74_37 +1 known missense c.2822 p.E941A 1.000 NULL pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom - no_errors MYO6 HGNC ENSG00000196586 tier1 - - 32 0 0.00 15 10 40.00 91 0 0.00 28 19 40.43 C11orf49 0 genome.wustl.edu 37 11 47183083 47183083 + Missense_Mutation SNP G G T TCGA-WK-A8XS-01A-11D-A37C-09 TCGA-WK-A8XS-10E-01D-A37F-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e69af2f0-d12a-43e8-9ad7-52c69c4dd6cf 4942810b-91b3-42b0-b774-741d0c2aed08 11 47183083 47183083 G T SNP C11orf49 ENST00000378615 human ensembl 74_37 +1 known missense c.908 p.R303L 1.000 NULL NULL - no_errors C11orf49 HGNC ENSG00000149179 tier1 - - 41 0 0.00 38 15 28.30 46 0 0.00 46 10 17.86 SH3PXD2B 0 genome.wustl.edu 37 5 171766855 171766855 + Silent SNP C C T TCGA-WK-A8XS-01A-11D-A37C-09 TCGA-WK-A8XS-10E-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e69af2f0-d12a-43e8-9ad7-52c69c4dd6cf 4942810b-91b3-42b0-b774-741d0c2aed08 5 171766855 171766855 C T SNP SH3PXD2B ENST00000311601 human ensembl 74_37 -1 known silent c.1254 p.P418 0.991 pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_SH3_domain,pfam_SH3_2,pfam_Phox,pfam_SH3-like_bac-type,pfam_DUF1058,superfamily_Phox,superfamily_SH3_domain,smart_Phox,smart_SH3_domain,pfscan_Phox,pfscan_SH3_domain - no_errors SH3PXD2B HGNC ENSG00000174705 tier1 rs115528822 GMAF=0.0005 25 0 0.00 20 17 45.95 90 0 0.00 51 51 50.00 OR4S1 0 genome.wustl.edu 37 11 48328655 48328655 + Missense_Mutation SNP A A G TCGA-WK-A8XS-01A-11D-A37C-09 TCGA-WK-A8XS-10E-01D-A37F-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e69af2f0-d12a-43e8-9ad7-52c69c4dd6cf 4942810b-91b3-42b0-b774-741d0c2aed08 11 48328655 48328655 A G SNP OR4S1 ENST00000319988 human ensembl 74_37 +1 known missense c.881 p.N294S 0.191 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4S1 HGNC ENSG00000176555 tier1 - - 15 0 0.00 6 16 72.73 126 0 0.00 68 52 43.33 C10orf113 0 genome.wustl.edu 37 10 21414843 21414843 + Missense_Mutation SNP C C T TCGA-WK-A8XS-01A-11D-A37C-09 TCGA-WK-A8XS-10E-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e69af2f0-d12a-43e8-9ad7-52c69c4dd6cf 4942810b-91b3-42b0-b774-741d0c2aed08 10 21414843 21414843 C T SNP C10orf113 ENST00000534331 human ensembl 74_37 -1 known missense c.377 p.G126D 1.000 NULL NULL - no_errors C10orf113 HGNC ENSG00000204683 tier1 - - 42 0 0.00 4 20 83.33 84 0 0.00 10 39 79.59 KCP 0 genome.wustl.edu 37 7 128520456 128520456 + R SNP G G A TCGA-WK-A8XS-01A-11D-A37C-09 TCGA-WK-A8XS-10E-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e69af2f0-d12a-43e8-9ad7-52c69c4dd6cf 4942810b-91b3-42b0-b774-741d0c2aed08 7 128520456 128520456 G A SNP KCP ENST00000297801 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors KCP HGNC ENSG00000135253 tier1 - - 55 0 0.00 59 18 23.38 20 0 0.00 23 8 25.81 PUS7 0 genome.wustl.edu 37 7 105142968 105142968 + Missense_Mutation SNP G G C TCGA-WK-A8XS-01A-11D-A37C-09 TCGA-WK-A8XS-10E-01D-A37F-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e69af2f0-d12a-43e8-9ad7-52c69c4dd6cf 4942810b-91b3-42b0-b774-741d0c2aed08 7 105142968 105142968 G C SNP PUS7 ENST00000356362 human ensembl 74_37 -1 known missense c.629 p.A210G 1.000 superfamily_PsdUridine_synth_cat_dom,pirsf_PsdUridine_synth_TruD_euk pfam_PsdUridine_synth_TruD,superfamily_PsdUridine_synth_cat_dom,pirsf_PsdUridine_synth_TruD_euk,pfscan_PsdUridine_synth_TruD_insert,tigrfam_PsdUridine_synth_TruD - no_errors PUS7 HGNC ENSG00000091127 tier1 - - 80 0 0.00 52 13 20.00 102 0 0.00 76 29 27.62 KC7 0 genome.wustl.edu 37 19 49573848 49573848 + Silent SNP T T A TCGA-WK-A8XS-01A-11D-A37C-09 TCGA-WK-A8XS-10E-01D-A37F-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e69af2f0-d12a-43e8-9ad7-52c69c4dd6cf 4942810b-91b3-42b0-b774-741d0c2aed08 19 49573848 49573848 T A SNP KC7 ENST00000221444 human ensembl 74_37 -1 known silent c.843 p.R281 0.729 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv1 - no_errors KC7 HGNC ENSG00000104848 tier1 - - 40 0 0.00 8 11 57.89 54 0 0.00 30 15 33.33 AGBL1 0 genome.wustl.edu 37 15 86822903 86822903 + Silent SNP C C T TCGA-WK-A8XS-01A-11D-A37C-09 TCGA-WK-A8XS-10E-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e69af2f0-d12a-43e8-9ad7-52c69c4dd6cf 4942810b-91b3-42b0-b774-741d0c2aed08 15 86822903 86822903 C T SNP AGBL1 ENST00000441037 human ensembl 74_37 +1 known silent c.1971 p.G657 0.215 NULL pfam_Peptidase_M14,superfamily_ARM-type_fold - no_errors AGBL1 HGNC ENSG00000166748 tier1 - - 46 0 0.00 29 30 50.85 91 0 0.00 37 48 56.47 SLAMF8 0 genome.wustl.edu 37 1 159799923 159799923 + Missense_Mutation SNP T T A TCGA-WK-A8XS-01A-11D-A37C-09 TCGA-WK-A8XS-10E-01D-A37F-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e69af2f0-d12a-43e8-9ad7-52c69c4dd6cf 4942810b-91b3-42b0-b774-741d0c2aed08 1 159799923 159799923 T A SNP SLAMF8 ENST00000289707 human ensembl 74_37 +1 known missense c.308 p.V103E 0.778 NULL pfscan_Ig-like_dom - no_errors SLAMF8 HGNC ENSG00000158714 tier1 - - 37 0 0.00 24 6 20.00 56 0 0.00 49 13 20.97 PPP1R3A 0 genome.wustl.edu 37 7 113518500 113518500 + Missense_Mutation SNP T T A TCGA-WK-A8XS-01A-11D-A37C-09 TCGA-WK-A8XS-10E-01D-A37F-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e69af2f0-d12a-43e8-9ad7-52c69c4dd6cf 4942810b-91b3-42b0-b774-741d0c2aed08 7 113518500 113518500 T A SNP PPP1R3A ENST00000284601 human ensembl 74_37 -1 known missense c.2647 p.R883W 0.000 NULL pfam_CBM_21,pfscan_CBM_21 - no_errors PPP1R3A HGNC ENSG00000154415 tier1 - - 27 0 0.00 13 15 53.57 131 0 0.00 39 59 59.60 C1orf63 0 genome.wustl.edu 37 1 25570199 25570199 + R SNP T T A TCGA-WK-A8XS-01A-11D-A37C-09 TCGA-WK-A8XS-10E-01D-A37F-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e69af2f0-d12a-43e8-9ad7-52c69c4dd6cf 4942810b-91b3-42b0-b774-741d0c2aed08 1 25570199 25570199 T A SNP C1orf63 ENST00000569495 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors C1orf63 HGNC ENSG00000117616 tier1 - - 24 0 0.00 21 6 22.22 136 0 0.00 82 44 34.65 INPPL1 0 genome.wustl.edu 37 11 71943350 71943350 + Missense_Mutation SNP A A T TCGA-WK-A8XS-01A-11D-A37C-09 TCGA-WK-A8XS-10E-01D-A37F-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e69af2f0-d12a-43e8-9ad7-52c69c4dd6cf 4942810b-91b3-42b0-b774-741d0c2aed08 11 71943350 71943350 A T SNP INPPL1 ENST00000298229 human ensembl 74_37 +1 known missense c.1682 p.H561L 1.000 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc pfam_Endo/exonuclease/phosphatase,pfam_SH2,pfam_SAM_2,pfam_SAM_type1,superfamily_Endo/exonuclease/phosphatase,superfamily_SAM/pointed,smart_SH2,smart_IPPc,smart_SAM,pfscan_SAM,pfscan_SH2,prints_SH2 - no_errors INPPL1 HGNC ENSG00000165458 tier1 - - 31 0 0.00 3 19 86.36 96 0 0.00 11 49 81.67 LPPR1 0 genome.wustl.edu 37 9 104086318 104086318 + Silent SNP G G A TCGA-WK-A8XS-01A-11D-A37C-09 TCGA-WK-A8XS-10E-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e69af2f0-d12a-43e8-9ad7-52c69c4dd6cf 4942810b-91b3-42b0-b774-741d0c2aed08 9 104086318 104086318 G A SNP LPPR1 ENST00000374874 human ensembl 74_37 +1 known silent c.957 p.A319 1.000 NULL pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors LPPR1 Uniprot_gn ENSG00000148123 tier1 - - 32 0 0.00 45 10 18.18 92 0 0.00 71 29 29.00 CNGB3 0 genome.wustl.edu 37 8 87679208 87679208 + Missense_Mutation SNP T T C TCGA-WK-A8XS-01A-11D-A37C-09 TCGA-WK-A8XS-10E-01D-A37F-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e69af2f0-d12a-43e8-9ad7-52c69c4dd6cf 4942810b-91b3-42b0-b774-741d0c2aed08 8 87679208 87679208 T C SNP CNGB3 ENST00000320005 human ensembl 74_37 -1 known missense c.797 p.Y266C 0.003 NULL pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGB3 HGNC ENSG00000170289 tier1 - - 32 0 0.00 14 17 54.84 92 0 0.00 41 67 62.04 OR13G1 0 genome.wustl.edu 37 1 247835974 247835974 + Missense_Mutation SNP A A G TCGA-WK-A8XS-01A-11D-A37C-09 TCGA-WK-A8XS-10E-01D-A37F-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e69af2f0-d12a-43e8-9ad7-52c69c4dd6cf 4942810b-91b3-42b0-b774-741d0c2aed08 1 247835974 247835974 A G SNP OR13G1 ENST00000359688 human ensembl 74_37 -1 known missense c.370 p.C124R 1.000 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 OR13G1 HGNC ENSG00000197437 tier1 - - 24 0 0.00 26 22 45.83 78 0 0.00 81 51 38.35 GPR113 0 genome.wustl.edu 37 2 26536280 26536280 + Missense_Mutation SNP C C T TCGA-WK-A8XS-01A-11D-A37C-09 TCGA-WK-A8XS-10E-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e69af2f0-d12a-43e8-9ad7-52c69c4dd6cf 4942810b-91b3-42b0-b774-741d0c2aed08 2 26536280 26536280 C T SNP GPR113 ENST00000333478 human ensembl 74_37 -1 known missense c.841 p.D281N 0.629 NULL pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR113 HGNC ENSG00000173567 tier1 - - 50 0 0.00 39 12 23.53 39 0 0.00 25 12 32.43 ZW10 0 genome.wustl.edu 37 11 113604439 113604439 + Missense_Mutation SNP C C T TCGA-WK-A8XS-01A-11D-A37C-09 TCGA-WK-A8XS-10E-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e69af2f0-d12a-43e8-9ad7-52c69c4dd6cf 4942810b-91b3-42b0-b774-741d0c2aed08 11 113604439 113604439 C T SNP ZW10 ENST00000200135 human ensembl 74_37 -1 known missense c.2317 p.A773T 0.997 NULL pfam_RZZ-complex_Zw10 - no_errors ZW10 HGNC ENSG00000086827 tier1 - - 40 0 0.00 3 31 91.18 68 0 0.00 10 40 80.00 PHF6 0 genome.wustl.edu 37 X 133527620 133527620 + Missense_Mutation SNP T T A TCGA-WK-A8XS-01A-11D-A37C-09 TCGA-WK-A8XS-10E-01D-A37F-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e69af2f0-d12a-43e8-9ad7-52c69c4dd6cf 4942810b-91b3-42b0-b774-741d0c2aed08 X 133527620 133527620 T A SNP PHF6 ENST00000394292 human ensembl 74_37 +1 known missense c.330 p.H110Q 1.000 superfamily_Znf_FYVE_PHD,smart_Znf_PHD superfamily_Znf_FYVE_PHD,smart_Znf_PHD - no_errors PHF6 HGNC ENSG00000156531 tier1 - - 57 0 0.00 30 25 45.45 86 0 0.00 73 53 42.06 NUP188 0 genome.wustl.edu 37 9 131744924 131744924 + Missense_Mutation SNP G G A TCGA-WK-A8XS-01A-11D-A37C-09 TCGA-WK-A8XS-10E-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e69af2f0-d12a-43e8-9ad7-52c69c4dd6cf 4942810b-91b3-42b0-b774-741d0c2aed08 9 131744924 131744924 G A SNP NUP188 ENST00000372577 human ensembl 74_37 +1 known missense c.1613 p.S538N 1.000 pfam_Nucleoporin_Nup188 pfam_Nucleoporin_Nup188,superfamily_ARM-type_fold - no_errors NUP188 HGNC ENSG00000095319 tier1 - - 19 0 0.00 22 28 56.00 109 0 0.00 75 71 48.63 KCNJ12 0 genome.wustl.edu 37 17 21318837 21318837 + Silent SNP C C T TCGA-WK-A8XS-01A-11D-A37C-09 TCGA-WK-A8XS-10E-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e69af2f0-d12a-43e8-9ad7-52c69c4dd6cf 4942810b-91b3-42b0-b774-741d0c2aed08 17 21318837 21318837 C T SNP KCNJ12 ENST00000331718 human ensembl 74_37 +1 known silent c.183 p.D61 0.958 pfam_K_chnl_inward-rec_Kir,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.2 pfam_K_chnl_inward-rec_Kir,pfam_K_chnl_inward-rec_Kir_N,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.2 - no_errors KCNJ12 HGNC ENSG00000184185 tier1 rs61514986 - 56 0 0.00 93 24 20.34 150 1 0.66 214 38 15.08 AGK 0 genome.wustl.edu 37 7 141315307 141315307 + Silent SNP C C T TCGA-WK-A8XS-01A-11D-A37C-09 TCGA-WK-A8XS-10E-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e69af2f0-d12a-43e8-9ad7-52c69c4dd6cf 4942810b-91b3-42b0-b774-741d0c2aed08 7 141315307 141315307 C T SNP AGK ENST00000355413 human ensembl 74_37 +1 known silent c.460 p.L154 1.000 pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom - no_errors AGK HGNC ENSG00000006530 tier1 - - 76 0 0.00 36 30 45.45 115 0 0.00 42 66 61.11 CDH4 0 genome.wustl.edu 37 20 60318791 60318791 + Silent SNP C C T TCGA-WK-A8XS-01A-11D-A37C-09 TCGA-WK-A8XS-10E-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e69af2f0-d12a-43e8-9ad7-52c69c4dd6cf 4942810b-91b3-42b0-b774-741d0c2aed08 20 60318791 60318791 C T SNP CDH4 ENST00000360469 human ensembl 74_37 +1 known silent c.342 p.D114 0.001 pfam_Cadherin_pro_dom,superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin - no_errors CDH4 HGNC ENSG00000179242 tier1 - - 15 0 0.00 7 10 58.82 38 0 0.00 47 14 22.95 SLC4A7 0 genome.wustl.edu 37 3 27453211 27453211 + Missense_Mutation SNP T T C TCGA-WK-A8XS-01A-11D-A37C-09 TCGA-WK-A8XS-10E-01D-A37F-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e69af2f0-d12a-43e8-9ad7-52c69c4dd6cf 4942810b-91b3-42b0-b774-741d0c2aed08 3 27453211 27453211 T C SNP SLC4A7 ENST00000454389 human ensembl 74_37 -1 known missense c.1688 p.N563S 1.000 tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,tigrfam_HCO3_transpt_euk - no_errors SLC4A7 HGNC ENSG00000033867 tier1 - - 69 0 0.00 85 12 12.37 53 0 0.00 74 22 22.92 CUL1 0 genome.wustl.edu 37 7 148494904 148494904 + Missense_Mutation SNP G G C TCGA-WK-A8XS-01A-11D-A37C-09 TCGA-WK-A8XS-10E-01D-A37F-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e69af2f0-d12a-43e8-9ad7-52c69c4dd6cf 4942810b-91b3-42b0-b774-741d0c2aed08 7 148494904 148494904 G C SNP CUL1 ENST00000325222 human ensembl 74_37 +1 known missense c.1900 p.D634H 1.000 pfam_Cullin_N,superfamily_Cullin_homology,pfscan_Cullin_homology pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL1 HGNC ENSG00000055130 tier1 - - 59 0 0.00 32 38 54.29 98 0 0.00 44 61 58.10 RASAL2 0 genome.wustl.edu 37 1 178269251 178269251 + Missense_Mutation SNP T T G TCGA-WK-A8XS-01A-11D-A37C-09 TCGA-WK-A8XS-10E-01D-A37F-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e69af2f0-d12a-43e8-9ad7-52c69c4dd6cf 4942810b-91b3-42b0-b774-741d0c2aed08 1 178269251 178269251 T G SNP RASAL2 ENST00000367649 human ensembl 74_37 +1 known missense c.455 p.L152R 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DUF3498,pfam_RasGAP,pfam_Pleckstrin_homology,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,superfamily_PP1_inhibitor,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP - no_errors RASAL2 HGNC ENSG00000075391 tier1 - - 41 0 0.00 28 20 41.67 91 0 0.00 52 37 41.57 MARS 0 genome.wustl.edu 37 12 57883288 57883288 + Missense_Mutation SNP C C G TCGA-WK-A8XS-01A-11D-A37C-09 TCGA-WK-A8XS-10E-01D-A37F-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e69af2f0-d12a-43e8-9ad7-52c69c4dd6cf 4942810b-91b3-42b0-b774-741d0c2aed08 12 57883288 57883288 C G SNP MARS ENST00000262027 human ensembl 74_37 +1 known missense c.361 p.L121V 0.998 superfamily_Glutathione-S-Trfase_C-like pfam_Methionyl/Leucyl_tR_Synth,pfam_WHEP-TRS,superfamily_tRsynth_1a_anticodon-bd,superfamily_Glutathione-S-Trfase_C-like,superfamily_S15_NS1_R-bd,superfamily_Thioredoxin-like_fold,pfscan_WHEP-TRS,prints_Met-tR_synth,tigrfam_Met-tR_synth - no_errors MARS HGNC ENSG00000166986 tier1 - - 22 0 0.00 4 7 63.64 87 0 0.00 28 28 50.00 DRAM1 0 genome.wustl.edu 37 12 102302067 102302067 + Missense_Mutation SNP C C T TCGA-WK-A8XS-01A-11D-A37C-09 TCGA-WK-A8XS-10E-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e69af2f0-d12a-43e8-9ad7-52c69c4dd6cf 4942810b-91b3-42b0-b774-741d0c2aed08 12 102302067 102302067 C T SNP DRAM1 ENST00000258534 human ensembl 74_37 +1 known missense c.446 p.P149L 1.000 pfam_Frag1/DRAM/Sfk1 pfam_Frag1/DRAM/Sfk1 - no_errors DRAM1 HGNC ENSG00000136048 tier1 - - 28 0 0.00 13 9 40.91 60 0 0.00 48 9 15.79 SRRM2 0 genome.wustl.edu 37 16 2812100 2812100 + Missense_Mutation SNP G G C TCGA-WK-A8XS-01A-11D-A37C-09 TCGA-WK-A8XS-10E-01D-A37F-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e69af2f0-d12a-43e8-9ad7-52c69c4dd6cf 4942810b-91b3-42b0-b774-741d0c2aed08 16 2812100 2812100 G C SNP SRRM2 ENST00000301740 human ensembl 74_37 +1 known missense c.1571 p.R524T 0.931 NULL pfam_mR_splic_Cwf21 - no_errors SRRM2 HGNC ENSG00000167978 tier1 - - 24 0 0.00 26 8 23.53 70 0 0.00 76 43 36.13 BAZ1B 0 genome.wustl.edu 37 7 72856562 72856562 + Silent SNP G G T TCGA-WK-A8XS-01A-11D-A37C-09 TCGA-WK-A8XS-10E-01D-A37F-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e69af2f0-d12a-43e8-9ad7-52c69c4dd6cf 4942810b-91b3-42b0-b774-741d0c2aed08 7 72856562 72856562 G T SNP BAZ1B ENST00000339594 human ensembl 74_37 -1 known silent c.4416 p.A1472 0.001 NULL pfam_WSTF_Acf1_Cbp146,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_WSTF_Acf1_Cbp146,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ1B HGNC ENSG00000009954 tier1 - - 36 0 0.00 28 5 14.71 83 0 0.00 51 17 25.00 CCDC129 0 genome.wustl.edu 37 7 31683190 31683198 + In_Frame_Del DEL GAATGCACT GAATGCACT - TCGA-WK-A8XS-01A-11D-A37C-09 TCGA-WK-A8XS-10E-01D-A37F-09 GAATGCACT GAATGCACT GAATGCACT - GAATGCACT GAATGCACT Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e69af2f0-d12a-43e8-9ad7-52c69c4dd6cf 4942810b-91b3-42b0-b774-741d0c2aed08 7 31683190 31683198 GAATGCACT - DEL CCDC129 ENST00000451887 human ensembl 74_37 +1 known in_frame_del c.2284_2292 p.ECT762in_frame_del 0.004:0.017:0.011:0.008:0.001:0.000:0.018:0.029:0.025 NULL NULL - no_errors CCDC129 HGNC ENSG00000180347 tier1 130 0 0.00 24 34 58.62 130 0 0.00 24 34 58.62 PTEN 0 genome.wustl.edu 37 10 89720855 89720859 + Frame_Shift_Del DEL TACTT TACTT - TCGA-WK-A8XS-01A-11D-A37C-09 TCGA-WK-A8XS-10E-01D-A37F-09 TACTT TACTT TACTT - TACTT TACTT Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e69af2f0-d12a-43e8-9ad7-52c69c4dd6cf 4942810b-91b3-42b0-b774-741d0c2aed08 10 89720855 89720859 TACTT - DEL PTEN ENST00000371953 human ensembl 74_37 +1 known frame_shift_del c.1006_1010 p.Y336fs 1.000:1.000:0.996:1.000:1.000 pfam_Tensin_phosphatase_C2-dom,superfamily_C2_dom,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tensin_phosphatase_C2-dom 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 107 0 0.00 14 26 65.00 107 0 0.00 14 26 65.00 ENSG00000221295 0 genome.wustl.edu 37 8 43415867 43415867 + R SNP G G A TCGA-WK-A8XS-01A-11D-A37C-09 TCGA-WK-A8XS-10E-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e69af2f0-d12a-43e8-9ad7-52c69c4dd6cf 4942810b-91b3-42b0-b774-741d0c2aed08 8 43415867 43415867 G A SNP ENSG00000221295 ENST00000408368 human ensembl 74_37 +1 novel rna NULL NULL 0.000 - - - no_errors AC134698.1 Clone_based_ensembl_gene ENSG00000221295 tier1 - - 54 0 0.00 19 22 53.66 22 0 0.00 1 21 95.45 MAP2K2 0 genome.wustl.edu 37 19 4099304 4099304 + Missense_Mutation SNP C C T TCGA-WK-A8XS-01A-11D-A37C-09 TCGA-WK-A8XS-10E-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e69af2f0-d12a-43e8-9ad7-52c69c4dd6cf 4942810b-91b3-42b0-b774-741d0c2aed08 19 4099304 4099304 C T SNP MAP2K2 ENST00000262948 human ensembl 74_37 -1 known missense c.814 p.A272T 0.995 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_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,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MAP2K2 HGNC ENSG00000126934 tier1 - - 55 0 0.00 47 29 38.16 10 0 0.00 6 3 33.33 PPAPDC3 0 genome.wustl.edu 37 9 134183431 134183431 + Silent SNP C C T TCGA-WK-A8XS-01A-11D-A37C-09 TCGA-WK-A8XS-10E-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e69af2f0-d12a-43e8-9ad7-52c69c4dd6cf 4942810b-91b3-42b0-b774-741d0c2aed08 9 134183431 134183431 C T SNP PPAPDC3 ENST00000372264 human ensembl 74_37 +1 known silent c.573 p.A191 0.977 pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_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 PPAPDC3 HGNC ENSG00000160539 tier1 - - 63 0 0.00 63 18 22.22 17 0 0.00 9 4 30.77 TRIM26 0 genome.wustl.edu 37 6 30154038 30154038 + Missense_Mutation SNP G G A TCGA-WK-A8XS-01A-11D-A37C-09 TCGA-WK-A8XS-10E-01D-A37F-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e69af2f0-d12a-43e8-9ad7-52c69c4dd6cf 4942810b-91b3-42b0-b774-741d0c2aed08 6 30154038 30154038 G A SNP TRIM26 ENST00000437089 human ensembl 74_37 -1 known missense c.1235 p.T412M 0.020 superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM26 HGNC ENSG00000234127 tier1 - - 36 0 0.00 4 25 86.21 51 0 0.00 3 13 81.25 ZFPL1 0 genome.wustl.edu 37 11 64852291 64852291 + Nonsense_Mutation SNP C C T TCGA-WK-A8XS-01A-11D-A37C-09 TCGA-WK-A8XS-10E-01D-A37F-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e69af2f0-d12a-43e8-9ad7-52c69c4dd6cf 4942810b-91b3-42b0-b774-741d0c2aed08 11 64852291 64852291 C T SNP ZFPL1 ENST00000525509 human ensembl 74_37 +1 putative nonsense c.121 p.R41* 0.000 NULL NULL - no_errors ZFPL1 HGNC ENSG00000162300 tier1 - - 39 0 0.00 0 22 100.00 69 0 0.00 6 30 83.33 BTK 0 genome.wustl.edu 37 X 100608059 100608059 + R DEL A A - TCGA-WK-A8XS-01A-11D-A37C-09 TCGA-WK-A8XS-10E-01D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e69af2f0-d12a-43e8-9ad7-52c69c4dd6cf 4942810b-91b3-42b0-b774-741d0c2aed08 X 100608059 100608059 A - DEL BTK ENST00000470069 human ensembl 74_37 -1 known rna NULL NULL 0.006 - - - no_errors BTK HGNC ENSG00000010671 tier1 19 0 0.00 28 6 17.65 8 0 0.00 2 1 33.33 HRCT1 0 genome.wustl.edu 37 9 35906627 35906627 + Missense_Mutation SNP C C T TCGA-WK-A8XS-01A-11D-A37C-09 TCGA-WK-A8XS-10E-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e69af2f0-d12a-43e8-9ad7-52c69c4dd6cf 4942810b-91b3-42b0-b774-741d0c2aed08 9 35906627 35906627 C T SNP HRCT1 ENST00000354323 human ensembl 74_37 +1 known missense c.343 p.R115C 0.006 NULL NULL - no_errors HRCT1 HGNC ENSG00000196196 tier1 - - 35 0 0.00 40 4 9.09 4 0 0.00 2 0 0.00 LOC101929847 0 genome.wustl.edu 37 15 84873329 84873329 + R SNP C C T TCGA-WK-A8XS-01A-11D-A37C-09 TCGA-WK-A8XS-10E-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e69af2f0-d12a-43e8-9ad7-52c69c4dd6cf 4942810b-91b3-42b0-b774-741d0c2aed08 15 84873329 84873329 C T SNP LOC101929847 ENST00000561015 human ensembl 74_37 -1 known rna NULL NULL 0.219 - - - no_errors AC103965.1 Clone_based_vega_gene ENSG00000225151 tier1 - - 13 0 0.00 13 7 35.00 0 0 0.00 0 0 0.00 LRP3 0 genome.wustl.edu 37 19 33697152 33697152 + Silent SNP C C T TCGA-WK-A8XS-01A-11D-A37C-09 TCGA-WK-A8XS-10E-01D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e69af2f0-d12a-43e8-9ad7-52c69c4dd6cf 4942810b-91b3-42b0-b774-741d0c2aed08 19 33697152 33697152 C T SNP LRP3 ENST00000253193 human ensembl 74_37 +1 known silent c.1476 p.A492 0.004 NULL pfam_LDrepeatLR_classA_rpt,pfam_CUB_dom,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP3 HGNC ENSG00000130881 tier1 - - 37 0 0.00 45 4 8.16 3 0 0.00 6 0 0.00 MEGF9 0 genome.wustl.edu 37 9 123476543 123476548 + In_Frame_Del DEL CGGCGG CGGCGG - TCGA-WK-A8XS-01A-11D-A37C-09 TCGA-WK-A8XS-10E-01D-A37F-09 CGGCGG CGGCGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e69af2f0-d12a-43e8-9ad7-52c69c4dd6cf 4942810b-91b3-42b0-b774-741d0c2aed08 9 123476543 123476548 CGGCGG - DEL MEGF9 ENST00000426959 human ensembl 74_37 -1 known in_frame_del c.70_65 p.AA22in_frame_del 0.255:0.243:0.247:0.263:0.993:0.998 NULL pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom,pfscan_EGF_laminin - no_errors MEGF9 HGNC ENSG00000106780 tier1 0 0 0.00 0 0 0.00 0 0 0.00 0 0 0.00 MRPL42 0 genome.wustl.edu 37 12 93894747 93894748 + R INS - - A TCGA-WK-A8XS-01A-11D-A37C-09 TCGA-WK-A8XS-10E-01D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e69af2f0-d12a-43e8-9ad7-52c69c4dd6cf 4942810b-91b3-42b0-b774-741d0c2aed08 12 93894747 93894748 - A INS MRPL42 ENST00000552938 human ensembl 74_37 +1 putative rna NULL NULL 0.002:0.008 - - - no_errors MRPL42 HGNC ENSG00000198015 tier1 10 0 0.00 4 5 55.56 0 0 0.00 0 0 0.00 DCT 0 genome.wustl.edu 37 13 95131426 95131426 + Silent SNP G G C TCGA-WK-A8XS-01A-11D-A37C-09 TCGA-WK-A8XS-10E-01D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e69af2f0-d12a-43e8-9ad7-52c69c4dd6cf 4942810b-91b3-42b0-b774-741d0c2aed08 13 95131426 95131426 G C SNP DCT ENST00000446125 human ensembl 74_37 -1 known silent c.84 p.V28 1.000 NULL pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase - no_errors DCT HGNC ENSG00000080166 tier1 - - 18 0 0.00 34 8 19.05 49 0 0.00 65 2 2.99