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 PEX11B 0 genome.wustl.edu 37 1 145522894 145522894 + Missense_Mutation SNP A A G TCGA-DX-A3LW-01A-21D-A21Q-09 TCGA-DX-A3LW-10A-01D-A21Q-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9d691fa3-5c32-4b98-85c4-f6e0fd4c37e0 9dd9bf7a-a5e2-41fc-8295-6d71a58014a6 1 145522894 145522894 A G SNP PEX11B ENST00000369306 human ensembl 74_37 +1 known missense c.755 p.Y252C 0.992 NULL pfam_PEX11 - no_errors PEX11B HGNC ENSG00000131779 tier1 - - 28 0 0.00 17 17 50.00 122 0 0.00 85 61 41.78 WRN 0 genome.wustl.edu 37 8 30938397 30938397 + Missense_Mutation SNP T T G TCGA-DX-A3LW-01A-21D-A21Q-09 TCGA-DX-A3LW-10A-01D-A21Q-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9d691fa3-5c32-4b98-85c4-f6e0fd4c37e0 9dd9bf7a-a5e2-41fc-8295-6d71a58014a6 8 30938397 30938397 T G SNP WRN ENST00000298139 human ensembl 74_37 +1 known missense c.854 p.L285R 0.045 NULL pfam_3'-5'_exonuclease_dom,pfam_Helicase_C,pfam_RQC_domain,pfam_D/R_helicase_DEAD/DEAH_N,pfam_HRDC_dom,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,superfamily_HRDC-like,smart_3'-5'_exonuclease_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_RQC_domain,smart_HRDC_dom,pfscan_HRDC_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_D_helicase_ATP-dep_RecQ - no_errors WRN HGNC ENSG00000165392 tier1 - - 41 0 0.00 27 24 47.06 69 0 0.00 45 31 40.79 NRP2 0 genome.wustl.edu 37 2 206608046 206608046 + Missense_Mutation SNP C C T TCGA-DX-A3LW-01A-21D-A21Q-09 TCGA-DX-A3LW-10A-01D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9d691fa3-5c32-4b98-85c4-f6e0fd4c37e0 9dd9bf7a-a5e2-41fc-8295-6d71a58014a6 2 206608046 206608046 C T SNP NRP2 ENST00000360409 human ensembl 74_37 +1 known missense c.1411 p.R471C 1.000 pirsf_Neuropilin,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom pirsf_Neuropilin,pfam_CUB_dom,pfam_Coagulation_fac_5/8-C_type_dom,pfam_MAM_dom,pfam_Neuropilin1_C,superfamily_Galactose-bd-like,superfamily_CUB_dom,superfamily_ConA-like_lec_gl_sf,smart_CUB_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_MAM_dom,prints_MAM_dom,pfscan_CUB_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_MAM_dom - no_errors NRP2 HGNC ENSG00000118257 tier1 - - 86 0 0.00 69 15 17.86 25 0 0.00 33 7 17.07 CDKAL1 0 genome.wustl.edu 37 6 20781386 20781386 + Silent SNP G G C TCGA-DX-A3LW-01A-21D-A21Q-09 TCGA-DX-A3LW-10A-01D-A21Q-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9d691fa3-5c32-4b98-85c4-f6e0fd4c37e0 9dd9bf7a-a5e2-41fc-8295-6d71a58014a6 6 20781386 20781386 G C SNP CDKAL1 ENST00000274695 human ensembl 74_37 +1 known silent c.528 p.V176 1.000 tigrfam_MiaB-like_B,tigrfam_Methylthiotransferase pfam_Methylthiotransferase_N,pfam_rSAM,pfam_TRAM_dom,smart_Elp3/MiaB/NifB,pfscan_TRAM_dom,tigrfam_MiaB-like_B,tigrfam_Methylthiotransferase - no_errors CDKAL1 HGNC ENSG00000145996 tier1 - - 45 0 0.00 11 23 67.65 56 0 0.00 34 44 56.41 DDAH1 0 genome.wustl.edu 37 1 85787222 85787222 + Silent SNP C C G TCGA-DX-A3LW-01A-21D-A21Q-09 TCGA-DX-A3LW-10A-01D-A21Q-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9d691fa3-5c32-4b98-85c4-f6e0fd4c37e0 9dd9bf7a-a5e2-41fc-8295-6d71a58014a6 1 85787222 85787222 C G SNP DDAH1 ENST00000284031 human ensembl 74_37 -1 known silent c.771 p.L257 1.000 pfam_Amidino_trans pfam_Amidino_trans - no_errors DDAH1 HGNC ENSG00000153904 tier1 - - 67 0 0.00 48 10 17.24 108 0 0.00 111 33 22.92 HSD3B1 0 genome.wustl.edu 37 1 120056737 120056737 + Silent SNP C C T TCGA-DX-A3LW-01A-21D-A21Q-09 TCGA-DX-A3LW-10A-01D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9d691fa3-5c32-4b98-85c4-f6e0fd4c37e0 9dd9bf7a-a5e2-41fc-8295-6d71a58014a6 1 120056737 120056737 C T SNP HSD3B1 ENST00000235547 human ensembl 74_37 +1 known silent c.597 p.F199 0.006 pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_Male_sterile_D-bd,pfam_dTDP_dehydrorham_reduct pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_Male_sterile_D-bd,pfam_Polysac_CapD-like,pfam_DH_sc/Rdtase_SDR,pfam_dTDP_dehydrorham_reduct,pfam_PKS_KR,pfam_NmrA - no_errors HSD3B1 HGNC ENSG00000203857 tier1 - - 64 0 0.00 32 20 37.74 89 0 0.00 56 43 43.43 MYRFL 0 genome.wustl.edu 37 12 70297595 70297595 + Missense_Mutation SNP G G C TCGA-DX-A3LW-01A-21D-A21Q-09 TCGA-DX-A3LW-10A-01D-A21Q-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9d691fa3-5c32-4b98-85c4-f6e0fd4c37e0 9dd9bf7a-a5e2-41fc-8295-6d71a58014a6 12 70297595 70297595 G C SNP MYRFL ENST00000552032 human ensembl 74_37 +1 putative missense c.1354 p.D452H 1.000 NULL pfam_NDT80_D-bd_dom,superfamily_p53-like_TF_D-bd - no_errors MYRFL HGNC ENSG00000166268 tier1 - - 44 0 0.00 84 20 19.23 42 0 0.00 142 74 34.26 WWP2 0 genome.wustl.edu 37 16 69974022 69974022 + R SNP G G T TCGA-DX-A3LW-01A-21D-A21Q-09 TCGA-DX-A3LW-10A-01D-A21Q-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9d691fa3-5c32-4b98-85c4-f6e0fd4c37e0 9dd9bf7a-a5e2-41fc-8295-6d71a58014a6 16 69974022 69974022 G T SNP WWP2 ENST00000544162 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors WWP2 HGNC ENSG00000198373 tier1 - - 47 0 0.00 34 28 45.16 66 1 1.49 36 31 45.59 GREB1 0 genome.wustl.edu 37 2 11780503 11780503 + Missense_Mutation SNP C C T TCGA-DX-A3LW-01A-21D-A21Q-09 TCGA-DX-A3LW-10A-01D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9d691fa3-5c32-4b98-85c4-f6e0fd4c37e0 9dd9bf7a-a5e2-41fc-8295-6d71a58014a6 2 11780503 11780503 C T SNP GREB1 ENST00000234142 human ensembl 74_37 +1 known missense c.5773 p.R1925W 1.000 NULL superfamily_P-loop_NTPase - no_errors GREB1 HGNC ENSG00000196208 tier1 - - 41 0 0.00 22 20 47.62 34 0 0.00 31 18 36.73 SIN3A 0 genome.wustl.edu 37 15 75722672 75722672 + Silent SNP G G A TCGA-DX-A3LW-01A-21D-A21Q-09 TCGA-DX-A3LW-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9d691fa3-5c32-4b98-85c4-f6e0fd4c37e0 9dd9bf7a-a5e2-41fc-8295-6d71a58014a6 15 75722672 75722672 G A SNP SIN3A ENST00000360439 human ensembl 74_37 -1 known silent c.45 p.A15 0.998 NULL pfam_PAH,pfam_HDAC_interact,superfamily_PAH,smart_HDAC_interact - no_errors SIN3A HGNC ENSG00000169375 tier1 - - 52 0 0.00 14 19 57.58 40 0 0.00 24 14 36.84 OPRM1 0 genome.wustl.edu 37 6 154412167 154412167 + Missense_Mutation SNP G G A TCGA-DX-A3LW-01A-21D-A21Q-09 TCGA-DX-A3LW-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9d691fa3-5c32-4b98-85c4-f6e0fd4c37e0 9dd9bf7a-a5e2-41fc-8295-6d71a58014a6 6 154412167 154412167 G A SNP OPRM1 ENST00000434900 human ensembl 74_37 +1 known missense c.1003 p.A335T 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Mu_opioid_rcpt,prints_GPCR_Rhodpsn,prints_Opioid_rcpt,prints_Somatstn_rcpt,prints_Neuropept_B/W_rcpt,prints_NPY_rcpt - no_errors OPRM1 HGNC ENSG00000112038 tier1 - - 68 0 0.00 29 14 32.56 74 0 0.00 48 45 48.39 PPHLN1 0 genome.wustl.edu 37 12 42835144 42835144 + Missense_Mutation SNP G G A TCGA-DX-A3LW-01A-21D-A21Q-09 TCGA-DX-A3LW-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9d691fa3-5c32-4b98-85c4-f6e0fd4c37e0 9dd9bf7a-a5e2-41fc-8295-6d71a58014a6 12 42835144 42835144 G A SNP PPHLN1 ENST00000395568 human ensembl 74_37 +1 known missense c.937 p.G313R 1.000 NULL NULL - no_errors PPHLN1 HGNC ENSG00000134283 tier1 rs199841802 GMAF=0 111 0 0.00 82 14 14.58 113 0 0.00 111 24 17.78 DIP2B 0 genome.wustl.edu 37 12 51122461 51122461 + Missense_Mutation SNP G G A TCGA-DX-A3LW-01A-21D-A21Q-09 TCGA-DX-A3LW-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9d691fa3-5c32-4b98-85c4-f6e0fd4c37e0 9dd9bf7a-a5e2-41fc-8295-6d71a58014a6 12 51122461 51122461 G A SNP DIP2B ENST00000301180 human ensembl 74_37 +1 known missense c.3641 p.S1214N 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd - no_errors DIP2B HGNC ENSG00000066084 tier1 - - 120 0 0.00 85 103 54.79 109 0 0.00 118 168 58.74 IL36B 0 genome.wustl.edu 37 2 113785508 113785508 + Missense_Mutation SNP G G T TCGA-DX-A3LW-01A-21D-A21Q-09 TCGA-DX-A3LW-10A-01D-A21Q-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9d691fa3-5c32-4b98-85c4-f6e0fd4c37e0 9dd9bf7a-a5e2-41fc-8295-6d71a58014a6 2 113785508 113785508 G T SNP IL36B ENST00000327407 human ensembl 74_37 -1 known missense c.446 p.T149N 0.032 pfam_IL-1,superfamily_Cytokine_IL1-like,smart_IL-1 pfam_IL-1,superfamily_Cytokine_IL1-like,smart_IL-1,prints_IL-1,prints_IL-1_alpha/beta,prints_IL-1_beta - no_errors IL36B HGNC ENSG00000136696 tier1 - - 113 0 0.00 80 19 19.19 107 0 0.00 94 17 15.32 CHR9 0 genome.wustl.edu 37 4 40339262 40339262 + Missense_Mutation SNP G G T TCGA-DX-A3LW-01A-21D-A21Q-09 TCGA-DX-A3LW-10A-01D-A21Q-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9d691fa3-5c32-4b98-85c4-f6e0fd4c37e0 9dd9bf7a-a5e2-41fc-8295-6d71a58014a6 4 40339262 40339262 G T SNP CHR9 ENST00000310169 human ensembl 74_37 +1 known missense c.246 p.W82C 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Neur_channel,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHR9 HGNC ENSG00000174343 tier1 - - 54 0 0.00 244 37 13.17 94 0 0.00 517 64 11.00 SEC14L3 0 genome.wustl.edu 37 22 30857444 30857444 + Missense_Mutation SNP C C T TCGA-DX-A3LW-01A-21D-A21Q-09 TCGA-DX-A3LW-10A-01D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9d691fa3-5c32-4b98-85c4-f6e0fd4c37e0 9dd9bf7a-a5e2-41fc-8295-6d71a58014a6 22 30857444 30857444 C T SNP SEC14L3 ENST00000215812 human ensembl 74_37 -1 known missense c.934 p.A312T 0.072 superfamily_GOLD,pfscan_GOLD pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_GOLD,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,prints_CRAL-bd_toc_tran - no_errors SEC14L3 HGNC ENSG00000100012 tier1 - - 61 0 0.00 24 10 29.41 45 0 0.00 39 14 26.42 OS9 0 genome.wustl.edu 37 12 58112180 58112180 + Silent SNP G G A TCGA-DX-A3LW-01A-21D-A21Q-09 TCGA-DX-A3LW-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9d691fa3-5c32-4b98-85c4-f6e0fd4c37e0 9dd9bf7a-a5e2-41fc-8295-6d71a58014a6 12 58112180 58112180 G A SNP OS9 ENST00000315970 human ensembl 74_37 +1 known silent c.1386 p.R462 1.000 NULL pfam_PRKCSH,superfamily_Man6P_isomerase_rcpt-bd_dom - no_errors OS9 HGNC ENSG00000135506 tier1 - - 24 0 0.00 85 82 49.10 54 0 0.00 342 241 41.34 WIF1 0 genome.wustl.edu 37 12 65449811 65449811 + Missense_Mutation SNP G G A TCGA-DX-A3LW-01A-21D-A21Q-09 TCGA-DX-A3LW-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9d691fa3-5c32-4b98-85c4-f6e0fd4c37e0 9dd9bf7a-a5e2-41fc-8295-6d71a58014a6 12 65449811 65449811 G A SNP WIF1 ENST00000286574 human ensembl 74_37 -1 known missense c.922 p.P308S 1.000 pfscan_EG-like_dom pfam_WIF,pfam_EGF_extracell,smart_WIF,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_WIF,prints_Wnt-inh - no_errors WIF1 HGNC ENSG00000156076 tier1 - - 49 0 0.00 21 23 52.27 108 0 0.00 96 54 35.76 GPR37 0 genome.wustl.edu 37 7 124404542 124404542 + Silent SNP C C A TCGA-DX-A3LW-01A-21D-A21Q-09 TCGA-DX-A3LW-10A-01D-A21Q-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9d691fa3-5c32-4b98-85c4-f6e0fd4c37e0 9dd9bf7a-a5e2-41fc-8295-6d71a58014a6 7 124404542 124404542 C A SNP GPR37 ENST00000303921 human ensembl 74_37 -1 known silent c.489 p.G163 0.019 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR37_orph,prints_GPCR_Rhodpsn - no_errors GPR37 HGNC ENSG00000170775 tier1 - - 59 0 0.00 30 22 42.31 70 0 0.00 41 36 46.75 CNPY2 0 genome.wustl.edu 37 12 56708671 56708671 + Missense_Mutation SNP G G C TCGA-DX-A3LW-01A-21D-A21Q-09 TCGA-DX-A3LW-10A-01D-A21Q-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9d691fa3-5c32-4b98-85c4-f6e0fd4c37e0 9dd9bf7a-a5e2-41fc-8295-6d71a58014a6 12 56708671 56708671 G C SNP CNPY2 ENST00000273308 human ensembl 74_37 -1 known missense c.168 p.F56L 1.000 pfam_DUF3456,superfamily_Saposin-like,pfscan_SaposinB pfam_DUF3456,superfamily_Saposin-like,pfscan_SaposinB - no_errors CNPY2 HGNC ENSG00000257727 tier1 - - 73 0 0.00 561 82 12.75 119 0 0.00 1130 160 12.37 FLG 0 genome.wustl.edu 37 1 152275633 152275633 + Missense_Mutation SNP G G T TCGA-DX-A3LW-01A-21D-A21Q-09 TCGA-DX-A3LW-10A-01D-A21Q-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9d691fa3-5c32-4b98-85c4-f6e0fd4c37e0 9dd9bf7a-a5e2-41fc-8295-6d71a58014a6 1 152275633 152275633 G T SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.11729 p.A3910D 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 tier1 - - 120 0 0.00 54 43 44.33 56 0 0.00 64 32 33.33 KEL 0 genome.wustl.edu 37 7 142651354 142651354 + Missense_Mutation SNP G G C TCGA-DX-A3LW-01A-21D-A21Q-09 TCGA-DX-A3LW-10A-01D-A21Q-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9d691fa3-5c32-4b98-85c4-f6e0fd4c37e0 9dd9bf7a-a5e2-41fc-8295-6d71a58014a6 7 142651354 142651354 G C SNP KEL ENST00000355265 human ensembl 74_37 -1 known missense c.841 p.R281G 0.000 pfam_Peptidase_M13_N pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors KEL HGNC ENSG00000197993 tier1 - - 58 0 0.00 43 8 15.69 62 0 0.00 43 9 16.98 METTL21B 0 genome.wustl.edu 37 12 58166903 58166903 + Missense_Mutation SNP C C T TCGA-DX-A3LW-01A-21D-A21Q-09 TCGA-DX-A3LW-10A-01D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9d691fa3-5c32-4b98-85c4-f6e0fd4c37e0 9dd9bf7a-a5e2-41fc-8295-6d71a58014a6 12 58166903 58166903 C T SNP METTL21B ENST00000300209 human ensembl 74_37 +1 known missense c.281 p.A94V 1.000 pfam_Nicotinamide_N-MeTfrase-like pfam_Nicotinamide_N-MeTfrase-like - no_errors METTL21B HGNC ENSG00000123427 tier1 - - 105 0 0.00 554 104 15.71 32 0 0.00 473 106 18.28 EPHB2 0 genome.wustl.edu 37 1 23111560 23111560 + Missense_Mutation SNP G G A TCGA-DX-A3LW-01A-21D-A21Q-09 TCGA-DX-A3LW-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9d691fa3-5c32-4b98-85c4-f6e0fd4c37e0 9dd9bf7a-a5e2-41fc-8295-6d71a58014a6 1 23111560 23111560 G A SNP EPHB2 ENST00000400191 human ensembl 74_37 +1 known missense c.802 p.V268I 0.961 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Growth_fac_rcpt_N_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHB2 HGNC ENSG00000133216 tier1 - - 96 0 0.00 9 36 80.00 32 0 0.00 5 14 73.68 HECTD4 0 genome.wustl.edu 37 12 112601934 112601934 + Missense_Mutation SNP C C T TCGA-DX-A3LW-01A-21D-A21Q-09 TCGA-DX-A3LW-10A-01D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9d691fa3-5c32-4b98-85c4-f6e0fd4c37e0 9dd9bf7a-a5e2-41fc-8295-6d71a58014a6 12 112601934 112601934 C T SNP HECTD4 ENST00000377560 human ensembl 74_37 -1 known missense c.12164 p.R4055Q 0.985 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT - no_errors HECTD4 HGNC ENSG00000173064 tier1 - - 77 0 0.00 35 30 46.15 20 0 0.00 7 5 41.67 KIF26A 0 genome.wustl.edu 37 14 104638995 104638995 + Missense_Mutation SNP C C A TCGA-DX-A3LW-01A-21D-A21Q-09 TCGA-DX-A3LW-10A-01D-A21Q-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9d691fa3-5c32-4b98-85c4-f6e0fd4c37e0 9dd9bf7a-a5e2-41fc-8295-6d71a58014a6 14 104638995 104638995 C A SNP KIF26A ENST00000423312 human ensembl 74_37 +1 known missense c.1410 p.H470Q 0.976 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIF26A HGNC ENSG00000066735 tier1 - - 115 0 0.00 64 13 16.88 67 0 0.00 66 4 5.71 HNRNPUL1 0 genome.wustl.edu 37 19 41808550 41808584 + Frame_Shift_Del DEL GGGCACTTCCTTCCTCCTAGCCAACTTCACGTTGC GGGCACTTCCTTCCTCCTAGCCAACTTCACGTTGC - TCGA-DX-A3LW-01A-21D-A21Q-09 TCGA-DX-A3LW-10A-01D-A21Q-09 GGGCACTTCCTTCCTCCTAGCCAACTTCACGTTGC GGGCACTTCCTTCCTCCTAGCCAACTTCACGTTGC GGGCACTTCCTTCCTCCTAGCCAACTTCACGTTGC - GGGCACTTCCTTCCTCCTAGCCAACTTCACGTTGC GGGCACTTCCTTCCTCCTAGCCAACTTCACGTTGC Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 9d691fa3-5c32-4b98-85c4-f6e0fd4c37e0 9dd9bf7a-a5e2-41fc-8295-6d71a58014a6 19 41808550 41808584 GGGCACTTCCTTCCTCCTAGCCAACTTCACGTTGC - DEL HNRNPUL1 ENST00000392006 human ensembl 74_37 +1 known frame_shift_del c.1708_1702 p.D582fs 0.003:0.001:0.000:0.000:0.001:0.026:0.025:0.008:0.002:0.003:0.008:0.026:0.157:0.181:0.241:0.267:0.693:0.762:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.998:0.997:0.003:0.743:0.991:0.988:1.000 NULL pfam_SPRY_rcpt,pfam_SAP_dom,superfamily_ConA-like_lec_gl_sf,superfamily_P-loop_NTPase,smart_SAP_dom,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_SAP_dom - no_errors HNRNPUL1 HGNC ENSG00000105323 tier1 84 0 0.00 69 5 6.76 84 0 0.00 69 5 6.76 MIR620 0 genome.wustl.edu 37 12 116586415 116586416 + R DEL TA TA - TCGA-DX-A3LW-01A-21D-A21Q-09 TCGA-DX-A3LW-10A-01D-A21Q-09 TA TA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9d691fa3-5c32-4b98-85c4-f6e0fd4c37e0 9dd9bf7a-a5e2-41fc-8295-6d71a58014a6 12 116586415 116586416 TA - DEL MIR620 ENST00000385232 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors MIR620 HGNC ENSG00000207967 tier1 28 0 0.00 23 4 14.81 14 0 0.00 8 0 0.00 BTN2A3P 0 genome.wustl.edu 37 6 26422387 26422388 + R INS - - CTTCCTCCTCCT TCGA-DX-A3LW-01A-21D-A21Q-09 TCGA-DX-A3LW-10A-01D-A21Q-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9d691fa3-5c32-4b98-85c4-f6e0fd4c37e0 9dd9bf7a-a5e2-41fc-8295-6d71a58014a6 6 26422387 26422388 - CTTCCTCCTCCT INS BTN2A3P ENST00000465856 human ensembl 74_37 +1 known rna NULL NULL 0.003:0.002 - - - no_errors BTN2A3P HGNC ENSG00000124549 tier1 3 0 0.00 3 1 25.00 3 0 0.00 3 1 25.00 ENSG00000215958 0 genome.wustl.edu 37 15 70077754 70077763 + R DEL TGTGTGTGTG TGTGTGTGTG - TCGA-DX-A3LW-01A-21D-A21Q-09 TCGA-DX-A3LW-10A-01D-A21Q-09 TGTGTGTGTG TGTGTGTGTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9d691fa3-5c32-4b98-85c4-f6e0fd4c37e0 9dd9bf7a-a5e2-41fc-8295-6d71a58014a6 15 70077754 70077763 TGTGTGTGTG - DEL ENSG00000215958 ENST00000401139 human ensembl 74_37 -1 novel rna NULL NULL 0.145:0.176:0.181:0.185:0.189:0.192:0.194:0.195:0.195:0.195 - - - no_errors AC021818.1 Clone_based_ensembl_gene ENSG00000215958 tier1 0 0 0.00 0 0 0.00 0 0 0.00 0 0 0.00 ENSG00000237452 0 genome.wustl.edu 37 19 46265047 46265048 + In_Frame_Ins INS - - TCCAGC TCGA-DX-A3LW-01A-21D-A21Q-09 TCGA-DX-A3LW-10A-01D-A21Q-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9d691fa3-5c32-4b98-85c4-f6e0fd4c37e0 9dd9bf7a-a5e2-41fc-8295-6d71a58014a6 19 46265047 46265048 - TCCAGC INS ENSG00000237452 ENST00000457052 human ensembl 74_37 +1 putative in_frame_ins c.1356_1357 p.456in_frame_insSS 0.000:0.004 NULL pfam_HMG_box_dom,pfam_bHLH_dom,superfamily_HMG_box_dom,superfamily_bHLH_dom,smart_HMG_box_dom,pfscan_bHLH_dom,pfscan_HMG_box_dom - no_errors AC074212.3 Clone_based_vega_gene ENSG00000237452 tier1 4 0 0.00 2 0 0.00 4 0 0.00 2 0 0.00 MARCH4 0 genome.wustl.edu 37 2 217234774 217234774 + Silent SNP G G A TCGA-DX-A3LW-01A-21D-A21Q-09 TCGA-DX-A3LW-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9d691fa3-5c32-4b98-85c4-f6e0fd4c37e0 9dd9bf7a-a5e2-41fc-8295-6d71a58014a6 2 217234774 217234774 G A SNP MARCH4 ENST00000273067 human ensembl 74_37 -1 known silent c.210 p.P70 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH - no_errors MARCH4 HGNC ENSG00000144583 tier1 - - 20 0 0.00 14 15 51.72 2 0 0.00 0 0 0.00 MT-CO2 0 genome.wustl.edu 37 MT 7974 7975 + Frame_Shift_Ins INS - - T TCGA-DX-A3LW-01A-21D-A21Q-09 TCGA-DX-A3LW-10A-01D-A21Q-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9d691fa3-5c32-4b98-85c4-f6e0fd4c37e0 9dd9bf7a-a5e2-41fc-8295-6d71a58014a6 MT 7974 7975 - T INS MT-CO2 ENST00000361739 human ensembl 74_37 +1 known frame_shift_ins c.389_390 p.G131fs NULL pfam_Cyt_c_oxidase_su2_C,superfamily_Cupredoxin,pfscan_Cyt_c_oxidase_su2_C,tigrfam_Cyt_c_oxidase_su2 pfam_Cyt_c_oxidase_su2_C,pfam_Cyt_c_oxidase_su2_TM_dom,superfamily_Cupredoxin,superfamily_Cyt_c_oxidase_su2_TM_dom,pfscan_Cyt_c_oxidase_su2_TM_dom,pfscan_Cyt_c_oxidase_su2_C,tigrfam_Cyt_c_oxidase_su2 - no_errors MT-CO2 HGNC ENSG00000198712 tier1 143 0 0.00 141 41 22.53 1 0 0.00 0 0 0.00 NUTM2B 0 genome.wustl.edu 37 10 81465826 81465826 + Silent SNP C C T TCGA-DX-A3LW-01A-21D-A21Q-09 TCGA-DX-A3LW-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9d691fa3-5c32-4b98-85c4-f6e0fd4c37e0 9dd9bf7a-a5e2-41fc-8295-6d71a58014a6 10 81465826 81465826 C T SNP NUTM2B ENST00000429828 human ensembl 74_37 +1 known silent c.411 p.T137 0.000 NULL NULL - no_errors NUTM2B HGNC ENSG00000188199 tier1 - - 44 0 0.00 24 4 14.29 2 0 0.00 2 0 0.00