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 RGS6 0 genome.wustl.edu 37 14 72943466 72943466 + Missense_Mutation SNP C C A TCGA-DX-A23R-01A-11D-A26G-09 TCGA-DX-A23R-10A-01D-A26G-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 35c797fd-ca81-4cef-b6c4-7e3776f661b3 daf47fe1-0c16-4711-a274-db2c20165c2c 14 72943466 72943466 C A SNP RGS6 ENST00000553525 human ensembl 74_37 +1 known missense c.710 p.T237N 0.862 NULL pfam_RGS_dom,pfam_G-protein_gamma-like_dom,pfam_DEP_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_G-protein_gamma-like_dom,smart_DEP_dom,smart_G-protein_gamma-like_dom,smart_Regulat_G_prot_signal_superfam,pfscan_DEP_dom,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS6 HGNC ENSG00000182732 tier1 - - 42 0 0.00 20 7 25.93 82 0 0.00 58 10 14.71 RNF213 0 genome.wustl.edu 37 17 78338308 78338308 + Silent SNP C C G TCGA-DX-A23R-01A-11D-A26G-09 TCGA-DX-A23R-10A-01D-A26G-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 35c797fd-ca81-4cef-b6c4-7e3776f661b3 daf47fe1-0c16-4711-a274-db2c20165c2c 17 78338308 78338308 C G SNP RNF213 ENST00000582970 human ensembl 74_37 +1 known silent c.11826 p.P3942 0.037 NULL superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 tier1 - - 26 0 0.00 15 6 28.57 67 0 0.00 31 11 26.19 LRP2 0 genome.wustl.edu 37 2 170028641 170028641 + Missense_Mutation SNP T T A TCGA-DX-A23R-01A-11D-A26G-09 TCGA-DX-A23R-10A-01D-A26G-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 35c797fd-ca81-4cef-b6c4-7e3776f661b3 daf47fe1-0c16-4711-a274-db2c20165c2c 2 170028641 170028641 T A SNP LRP2 ENST00000263816 human ensembl 74_37 -1 known missense c.11147 p.E3716V 0.097 superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP2 HGNC ENSG00000081479 tier1 - - 41 0 0.00 42 11 20.75 76 0 0.00 38 15 28.30 EPHA7 0 genome.wustl.edu 37 6 93953228 93953228 + Silent SNP A A G TCGA-DX-A23R-01A-11D-A26G-09 TCGA-DX-A23R-10A-01D-A26G-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 35c797fd-ca81-4cef-b6c4-7e3776f661b3 daf47fe1-0c16-4711-a274-db2c20165c2c 6 93953228 93953228 A G SNP EPHA7 ENST00000369303 human ensembl 74_37 -1 known silent c.2913 p.V971 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM 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,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA7 HGNC ENSG00000135333 tier1 - - 45 0 0.00 36 9 20.00 97 0 0.00 46 21 31.34 CCDC51 0 genome.wustl.edu 37 3 48475279 48475279 + Silent SNP A A G TCGA-DX-A23R-01A-11D-A26G-09 TCGA-DX-A23R-10A-01D-A26G-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 35c797fd-ca81-4cef-b6c4-7e3776f661b3 daf47fe1-0c16-4711-a274-db2c20165c2c 3 48475279 48475279 A G SNP CCDC51 ENST00000395694 human ensembl 74_37 -1 known silent c.315 p.A105 0.764 NULL NULL - no_errors CCDC51 HGNC ENSG00000164051 tier1 - - 32 0 0.00 17 22 56.41 84 0 0.00 44 76 63.33 ANK1 0 genome.wustl.edu 37 8 41580669 41580669 + Missense_Mutation SNP C C T TCGA-DX-A23R-01A-11D-A26G-09 TCGA-DX-A23R-10A-01D-A26G-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 35c797fd-ca81-4cef-b6c4-7e3776f661b3 daf47fe1-0c16-4711-a274-db2c20165c2c 8 41580669 41580669 C T SNP ANK1 ENST00000396942 human ensembl 74_37 -1 known missense c.883 p.G295R 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK1 HGNC ENSG00000029534 tier1 - - 58 0 0.00 53 37 41.11 108 0 0.00 47 99 67.81 DPP6 0 genome.wustl.edu 37 7 154002609 154002609 + Silent SNP G G A TCGA-DX-A23R-01A-11D-A26G-09 TCGA-DX-A23R-10A-01D-A26G-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 35c797fd-ca81-4cef-b6c4-7e3776f661b3 daf47fe1-0c16-4711-a274-db2c20165c2c 7 154002609 154002609 G A SNP DPP6 ENST00000332007 human ensembl 74_37 +1 known silent c.30 p.S10 0.717 NULL pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_PD40 - no_errors DPP6 HGNC ENSG00000130226 tier1 - - 46 0 0.00 33 8 19.05 68 0 0.00 36 6 14.29 CA5B 0 genome.wustl.edu 37 X 15790632 15790632 + Silent SNP A A G TCGA-DX-A23R-01A-11D-A26G-09 TCGA-DX-A23R-10A-01D-A26G-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 35c797fd-ca81-4cef-b6c4-7e3776f661b3 daf47fe1-0c16-4711-a274-db2c20165c2c X 15790632 15790632 A G SNP CA5B ENST00000318636 human ensembl 74_37 +1 known silent c.354 p.G118 0.993 pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a - no_errors CA5B HGNC ENSG00000169239 tier1 - - 73 0 0.00 39 28 41.79 99 0 0.00 49 36 42.35 TPMT 0 genome.wustl.edu 37 6 18130957 18130957 + Missense_Mutation SNP T T C TCGA-DX-A23R-01A-11D-A26G-09 TCGA-DX-A23R-10A-01D-A26G-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 35c797fd-ca81-4cef-b6c4-7e3776f661b3 daf47fe1-0c16-4711-a274-db2c20165c2c 6 18130957 18130957 T C SNP TPMT ENST00000309983 human ensembl 74_37 -1 known missense c.680 p.H227R 0.713 pfam_TPMT,pirsf_Thiopurine_S-MeTrfase pfam_TPMT,pirsf_Thiopurine_S-MeTrfase - no_errors TPMT HGNC ENSG00000137364 tier1 - - 48 0 0.00 27 14 34.15 40 0 0.00 15 18 54.55 SMCO3 0 genome.wustl.edu 37 12 14959393 14959393 + Missense_Mutation SNP C C T TCGA-DX-A23R-01A-11D-A26G-09 TCGA-DX-A23R-10A-01D-A26G-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 35c797fd-ca81-4cef-b6c4-7e3776f661b3 daf47fe1-0c16-4711-a274-db2c20165c2c 12 14959393 14959393 C T SNP SMCO3 ENST00000316048 human ensembl 74_37 -1 known missense c.222 p.M74I 0.000 NULL NULL - no_errors SMCO3 HGNC ENSG00000179256 tier1 - - 105 0 0.00 85 17 16.67 87 0 0.00 72 14 16.28 FMN2 0 genome.wustl.edu 37 1 240370168 240370168 + Missense_Mutation SNP C C A TCGA-DX-A23R-01A-11D-A26G-09 TCGA-DX-A23R-10A-01D-A26G-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 35c797fd-ca81-4cef-b6c4-7e3776f661b3 daf47fe1-0c16-4711-a274-db2c20165c2c 1 240370168 240370168 C A SNP FMN2 ENST00000319653 human ensembl 74_37 +1 known missense c.2056 p.L686M 1.000 NULL pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom - no_errors FMN2 HGNC ENSG00000155816 tier1 - - 44 0 0.00 33 6 15.38 104 1 0.95 53 11 17.19 PTAR1 0 genome.wustl.edu 37 9 72338327 72338327 + Missense_Mutation SNP G G C TCGA-DX-A23R-01A-11D-A26G-09 TCGA-DX-A23R-10A-01D-A26G-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 35c797fd-ca81-4cef-b6c4-7e3776f661b3 daf47fe1-0c16-4711-a274-db2c20165c2c 9 72338327 72338327 G C SNP PTAR1 ENST00000340434 human ensembl 74_37 -1 known missense c.862 p.L288V 1.000 NULL pfam_Prenyl_trans_a,pfscan_Prenyl_trans_a - no_errors PTAR1 HGNC ENSG00000188647 tier1 - - 81 0 0.00 61 9 12.86 95 0 0.00 87 17 16.35 OR9G4 0 genome.wustl.edu 37 11 56510497 56510497 + Missense_Mutation SNP A A T TCGA-DX-A23R-01A-11D-A26G-09 TCGA-DX-A23R-10A-01D-A26G-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 35c797fd-ca81-4cef-b6c4-7e3776f661b3 daf47fe1-0c16-4711-a274-db2c20165c2c 11 56510497 56510497 A T SNP OR9G4 ENST00000302957 human ensembl 74_37 -1 known missense c.791 p.M264K 0.092 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR9G4 HGNC ENSG00000172457 tier1 - - 45 0 0.00 33 11 25.00 60 0 0.00 31 6 16.22 SLC4A8 0 genome.wustl.edu 37 12 51864185 51864185 + Missense_Mutation SNP G G C TCGA-DX-A23R-01A-11D-A26G-09 TCGA-DX-A23R-10A-01D-A26G-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 35c797fd-ca81-4cef-b6c4-7e3776f661b3 daf47fe1-0c16-4711-a274-db2c20165c2c 12 51864185 51864185 G C SNP SLC4A8 ENST00000453097 human ensembl 74_37 +1 known missense c.1534 p.E512Q 1.000 pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk - no_errors SLC4A8 HGNC ENSG00000050438 tier1 - - 105 0 0.00 1731 287 14.22 110 0 0.00 1909 320 14.32 SCN8A 0 genome.wustl.edu 37 12 52201083 52201083 + Missense_Mutation SNP C C T TCGA-DX-A23R-01A-11D-A26G-09 TCGA-DX-A23R-10A-01D-A26G-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 35c797fd-ca81-4cef-b6c4-7e3776f661b3 daf47fe1-0c16-4711-a274-db2c20165c2c 12 52201083 52201083 C T SNP SCN8A ENST00000354534 human ensembl 74_37 +1 known missense c.5813 p.T1938I 1.000 NULL pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,prints_Na_channel_a8su,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN8A HGNC ENSG00000196876 tier1 - - 20 0 0.00 42 22 34.38 123 0 0.00 230 98 29.79 RSBN1L 0 genome.wustl.edu 37 7 77398005 77398005 + Missense_Mutation SNP A A T TCGA-DX-A23R-01A-11D-A26G-09 TCGA-DX-A23R-10A-01D-A26G-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 35c797fd-ca81-4cef-b6c4-7e3776f661b3 daf47fe1-0c16-4711-a274-db2c20165c2c 7 77398005 77398005 A T SNP RSBN1L ENST00000334955 human ensembl 74_37 +1 known missense c.1510 p.S504C 1.000 NULL NULL - no_errors RSBN1L HGNC ENSG00000187257 tier1 - - 61 0 0.00 27 5 15.62 51 0 0.00 41 6 12.77 ARMCX4 0 genome.wustl.edu 37 X 100746799 100746799 + Nonsense_Mutation SNP G G T TCGA-DX-A23R-01A-11D-A26G-09 TCGA-DX-A23R-10A-01D-A26G-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 35c797fd-ca81-4cef-b6c4-7e3776f661b3 daf47fe1-0c16-4711-a274-db2c20165c2c X 100746799 100746799 G T SNP ARMCX4 ENST00000423738 human ensembl 74_37 +1 putative nonsense c.3223 p.E1075* 0.025 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold,pfscan_Armadillo - no_errors ARMCX4 HGNC ENSG00000196440 tier1 - - 57 0 0.00 37 20 35.09 56 0 0.00 26 9 25.71 LPHN2 0 genome.wustl.edu 37 1 82416080 82416080 + Missense_Mutation SNP G G A TCGA-DX-A23R-01A-11D-A26G-09 TCGA-DX-A23R-10A-01D-A26G-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 35c797fd-ca81-4cef-b6c4-7e3776f661b3 daf47fe1-0c16-4711-a274-db2c20165c2c 1 82416080 82416080 G A SNP LPHN2 ENST00000370717 human ensembl 74_37 +1 known missense c.1406 p.C469Y 1.000 pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like - no_errors LPHN2 HGNC ENSG00000117114 tier1 - - 30 0 0.00 18 9 33.33 101 0 0.00 57 43 43.00 QARS 0 genome.wustl.edu 37 3 49136973 49136973 + Missense_Mutation SNP A A C TCGA-DX-A23R-01A-11D-A26G-09 TCGA-DX-A23R-10A-01D-A26G-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 35c797fd-ca81-4cef-b6c4-7e3776f661b3 daf47fe1-0c16-4711-a274-db2c20165c2c 3 49136973 49136973 A C SNP QARS ENST00000306125 human ensembl 74_37 -1 known missense c.1496 p.I499S 1.000 pfam_Glu/Gln-tR-synth_Ib_cat-dom,tigrfam_Gln-tR-synth pfam_Glu/Gln-tR-synth_Ib_cat-dom,pfam_Gln-tR-synth_Ib_R-bd_N,pfam_Glu/Gln-tR-synth_Ib_codon-bd,pfam_Gln-tR-synth_Ib_R-bd_2,superfamily_Ribosomal_L25/Gln-tR_synth,prints_Glu/Gln-tR-synth,tigrfam_Gln-tR-synth - no_errors QARS HGNC ENSG00000172053 tier1 - - 56 0 0.00 59 13 18.06 86 0 0.00 58 29 33.33 GRIPAP1 0 genome.wustl.edu 37 X 48847665 48847665 + R SNP G G A TCGA-DX-A23R-01A-11D-A26G-09 TCGA-DX-A23R-10A-01D-A26G-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 35c797fd-ca81-4cef-b6c4-7e3776f661b3 daf47fe1-0c16-4711-a274-db2c20165c2c X 48847665 48847665 G A SNP GRIPAP1 ENST00000473581 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors GRIPAP1 HGNC ENSG00000068400 tier1 - - 15 0 0.00 0 9 100.00 97 0 0.00 74 40 35.09 UPF3A 0 genome.wustl.edu 37 13 115048329 115048329 + Missense_Mutation SNP A A T TCGA-DX-A23R-01A-11D-A26G-09 TCGA-DX-A23R-10A-01D-A26G-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 35c797fd-ca81-4cef-b6c4-7e3776f661b3 daf47fe1-0c16-4711-a274-db2c20165c2c 13 115048329 115048329 A T SNP UPF3A ENST00000375299 human ensembl 74_37 +1 known missense c.332 p.Y111F 1.000 pfam_Nonsense_mediated_decay_UPF3 pfam_Nonsense_mediated_decay_UPF3 - no_errors UPF3A HGNC ENSG00000169062 tier1 - - 50 0 0.00 22 14 38.89 44 0 0.00 14 18 56.25 HSPA4L 0 genome.wustl.edu 37 4 128726313 128726313 + Missense_Mutation SNP C C G TCGA-DX-A23R-01A-11D-A26G-09 TCGA-DX-A23R-10A-01D-A26G-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 35c797fd-ca81-4cef-b6c4-7e3776f661b3 daf47fe1-0c16-4711-a274-db2c20165c2c 4 128726313 128726313 C G SNP HSPA4L ENST00000439123 human ensembl 74_37 +1 known missense c.1164 p.F388L 1.000 pfam_Hsp_70_fam,pfam_MreB_Mrl pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA4L HGNC ENSG00000164070 tier1 - - 38 0 0.00 33 4 10.81 116 0 0.00 62 12 16.22 POTEJ 0 genome.wustl.edu 37 2 131414229 131414229 + Missense_Mutation SNP C C A TCGA-DX-A23R-01A-11D-A26G-09 TCGA-DX-A23R-10A-01D-A26G-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 35c797fd-ca81-4cef-b6c4-7e3776f661b3 daf47fe1-0c16-4711-a274-db2c20165c2c 2 131414229 131414229 C A SNP POTEJ ENST00000409602 human ensembl 74_37 +1 novel missense c.1896 p.S632R 0.003 NULL pfam_Actin-related,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-related,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-related - no_errors POTEJ HGNC ENSG00000222038 tier1 - - 294 0 0.00 242 43 15.09 55 0 0.00 42 7 14.29 TRPM2 0 genome.wustl.edu 37 21 45784082 45784082 + Missense_Mutation SNP G G A TCGA-DX-A23R-01A-11D-A26G-09 TCGA-DX-A23R-10A-01D-A26G-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 35c797fd-ca81-4cef-b6c4-7e3776f661b3 daf47fe1-0c16-4711-a274-db2c20165c2c 21 45784082 45784082 G A SNP TRPM2 ENST00000300482 human ensembl 74_37 +1 known missense c.340 p.D114N 1.000 NULL pfam_Ion_trans_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors TRPM2 HGNC ENSG00000142185 tier1 - - 34 0 0.00 28 11 28.21 126 0 0.00 37 19 33.93 FAM185A 0 genome.wustl.edu 37 7 102392177 102392177 + Missense_Mutation SNP G G A TCGA-DX-A23R-01A-11D-A26G-09 TCGA-DX-A23R-10A-01D-A26G-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 35c797fd-ca81-4cef-b6c4-7e3776f661b3 daf47fe1-0c16-4711-a274-db2c20165c2c 7 102392177 102392177 G A SNP FAM185A ENST00000413034 human ensembl 74_37 +1 known missense c.490 p.V164I 0.998 NULL NULL - no_errors FAM185A HGNC ENSG00000222011 tier1 - - 48 0 0.00 29 23 43.40 105 0 0.00 52 38 42.22 RAD9A 0 genome.wustl.edu 37 11 67165480 67165480 + R SNP C C G TCGA-DX-A23R-01A-11D-A26G-09 TCGA-DX-A23R-10A-01D-A26G-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 35c797fd-ca81-4cef-b6c4-7e3776f661b3 daf47fe1-0c16-4711-a274-db2c20165c2c 11 67165480 67165480 C G SNP RAD9A ENST00000535644 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors RAD9A HGNC ENSG00000172613 tier1 - - 27 0 0.00 17 6 26.09 111 0 0.00 52 28 34.57 SLC44A4 0 genome.wustl.edu 37 6 31831505 31831505 + Missense_Mutation SNP T T A TCGA-DX-A23R-01A-11D-A26G-09 TCGA-DX-A23R-10A-01D-A26G-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 35c797fd-ca81-4cef-b6c4-7e3776f661b3 daf47fe1-0c16-4711-a274-db2c20165c2c 6 31831505 31831505 T A SNP SLC44A4 ENST00000229729 human ensembl 74_37 -1 known missense c.2032 p.N678Y 1.000 pfam_Choline_transptr-like pfam_Choline_transptr-like - no_errors SLC44A4 HGNC ENSG00000204385 tier1 - - 24 0 0.00 15 6 28.57 56 0 0.00 22 27 55.10 INPP5B 0 genome.wustl.edu 37 1 38343971 38343971 + Nonsense_Mutation SNP C C T TCGA-DX-A23R-01A-11D-A26G-09 TCGA-DX-A23R-10A-01D-A26G-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 35c797fd-ca81-4cef-b6c4-7e3776f661b3 daf47fe1-0c16-4711-a274-db2c20165c2c 1 38343971 38343971 C T SNP INPP5B ENST00000373023 human ensembl 74_37 -1 known nonsense c.1806 p.W602* 1.000 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc pfam_Endo/exonuclease/phosphatase,pfam_RhoGAP_dom,superfamily_Endo/exonuclease/phosphatase,superfamily_Rho_GTPase_activation_prot,smart_IPPc,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors INPP5B HGNC ENSG00000204084 tier1 - - 61 0 0.00 41 25 37.88 65 0 0.00 30 49 62.03 SCAF4 0 genome.wustl.edu 37 21 33073436 33073436 + Missense_Mutation SNP G G A TCGA-DX-A23R-01A-11D-A26G-09 TCGA-DX-A23R-10A-01D-A26G-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 35c797fd-ca81-4cef-b6c4-7e3776f661b3 daf47fe1-0c16-4711-a274-db2c20165c2c 21 33073436 33073436 G A SNP SCAF4 ENST00000286835 human ensembl 74_37 -1 known missense c.649 p.P217S 1.000 NULL pfam_R_pol_II-bd,pfam_RRM_dom,superfamily_ENTH_VHS,smart_CID_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SCAF4 HGNC ENSG00000156304 tier1 - - 82 0 0.00 26 41 61.19 87 0 0.00 28 32 52.46 DPP4 0 genome.wustl.edu 37 2 162851506 162851506 + Missense_Mutation SNP C C A TCGA-DX-A23R-01A-11D-A26G-09 TCGA-DX-A23R-10A-01D-A26G-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 35c797fd-ca81-4cef-b6c4-7e3776f661b3 daf47fe1-0c16-4711-a274-db2c20165c2c 2 162851506 162851506 C A SNP DPP4 ENST00000360534 human ensembl 74_37 -1 known missense c.2164 p.A722S 1.000 pfam_Peptidase_S9 pfam_Peptidase_S9B,pfam_Peptidase_S9 - no_errors DPP4 HGNC ENSG00000197635 tier1 - - 39 0 0.00 32 6 15.79 95 0 0.00 78 18 18.75 CAC1B 0 genome.wustl.edu 37 9 140852103 140852103 + Missense_Mutation SNP G G C TCGA-DX-A23R-01A-11D-A26G-09 TCGA-DX-A23R-10A-01D-A26G-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 35c797fd-ca81-4cef-b6c4-7e3776f661b3 daf47fe1-0c16-4711-a274-db2c20165c2c 9 140852103 140852103 G C SNP CAC1B ENST00000371355 human ensembl 74_37 +1 known missense c.1300 p.E434Q 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_N_a1su,prints_PKD_2 - no_errors CAC1B HGNC ENSG00000148408 tier1 - - 37 0 0.00 55 6 9.84 45 0 0.00 35 4 10.26 RNF128 0 genome.wustl.edu 37 X 105970351 105970351 + Missense_Mutation SNP G G A TCGA-DX-A23R-01A-11D-A26G-09 TCGA-DX-A23R-10A-01D-A26G-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 35c797fd-ca81-4cef-b6c4-7e3776f661b3 daf47fe1-0c16-4711-a274-db2c20165c2c X 105970351 105970351 G A SNP RNF128 ENST00000255499 human ensembl 74_37 +1 known missense c.208 p.V70M 1.000 NULL pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF128 HGNC ENSG00000133135 tier1 - - 60 0 0.00 15 34 69.39 33 0 0.00 11 17 60.71 ICA1 0 genome.wustl.edu 37 7 8196730 8196730 + Missense_Mutation SNP C C T TCGA-DX-A23R-01A-11D-A26G-09 TCGA-DX-A23R-10A-01D-A26G-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 35c797fd-ca81-4cef-b6c4-7e3776f661b3 daf47fe1-0c16-4711-a274-db2c20165c2c 7 8196730 8196730 C T SNP ICA1 ENST00000407906 human ensembl 74_37 -1 putative missense c.820 p.G274R 0.000 NULL pfam_AH_dom,pfscan_AH_dom - no_errors ICA1 HGNC ENSG00000003147 tier1 - - 88 0 0.00 30 33 52.38 114 0 0.00 53 64 54.70 SKIL 0 genome.wustl.edu 37 3 170108927 170108927 + Missense_Mutation SNP G G C TCGA-DX-A23R-01A-11D-A26G-09 TCGA-DX-A23R-10A-01D-A26G-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 35c797fd-ca81-4cef-b6c4-7e3776f661b3 daf47fe1-0c16-4711-a274-db2c20165c2c 3 170108927 170108927 G C SNP SKIL ENST00000259119 human ensembl 74_37 +1 known missense c.1775 p.R592T 1.000 NULL pfam_c-SKI_SMAD4-bd_dom,pfam_Transform_Ski,superfamily_SAND_dom-like,superfamily_D-bd_dom_put - no_errors SKIL HGNC ENSG00000136603 tier1 - - 31 0 0.00 18 7 28.00 78 0 0.00 32 8 20.00 FAM135B 0 genome.wustl.edu 37 8 139209759 139209759 + Nonsense_Mutation SNP C C A TCGA-DX-A23R-01A-11D-A26G-09 TCGA-DX-A23R-10A-01D-A26G-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 35c797fd-ca81-4cef-b6c4-7e3776f661b3 daf47fe1-0c16-4711-a274-db2c20165c2c 8 139209759 139209759 C A SNP FAM135B ENST00000395297 human ensembl 74_37 -1 known nonsense c.823 p.E275* 1.000 NULL pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like - no_errors FAM135B HGNC ENSG00000147724 tier1 - - 35 0 0.00 23 11 32.35 30 0 0.00 30 5 14.29 ZNF100 0 genome.wustl.edu 37 19 21909701 21909701 + Missense_Mutation SNP T T G TCGA-DX-A23R-01A-11D-A26G-09 TCGA-DX-A23R-10A-01D-A26G-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 35c797fd-ca81-4cef-b6c4-7e3776f661b3 daf47fe1-0c16-4711-a274-db2c20165c2c 19 21909701 21909701 T G SNP ZNF100 ENST00000358296 human ensembl 74_37 -1 known missense c.1413 p.Q471H 0.001 pfam_Znf_C2H2,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 ZNF100 HGNC ENSG00000197020 tier1 - - 47 0 0.00 85 18 17.48 10 0 0.00 10 8 44.44 NISCH 0 genome.wustl.edu 37 3 52505830 52505831 + Frame_Shift_Del DEL GA GA - TCGA-DX-A23R-01A-11D-A26G-09 TCGA-DX-A23R-10A-01D-A26G-09 GA GA GA - GA GA Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 35c797fd-ca81-4cef-b6c4-7e3776f661b3 daf47fe1-0c16-4711-a274-db2c20165c2c 3 52505830 52505831 GA - DEL NISCH ENST00000345716 human ensembl 74_37 +1 known frame_shift_del c.410_411 p.E138fs 1.000:0.933 NULL pfam_Phox,pfam_Leu-rich_rpt,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors NISCH HGNC ENSG00000010322 tier1 133 0 0.00 68 38 35.85 32 0 0.00 12 17 58.62 CCDC74A 0 genome.wustl.edu 37 2 132285768 132285768 + Missense_Mutation SNP C C G TCGA-DX-A23R-01A-11D-A26G-09 TCGA-DX-A23R-10A-01D-A26G-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 35c797fd-ca81-4cef-b6c4-7e3776f661b3 daf47fe1-0c16-4711-a274-db2c20165c2c 2 132285768 132285768 C G SNP CCDC74A ENST00000295171 human ensembl 74_37 +1 known missense c.225 p.I75M 0.993 NULL NULL - no_errors CCDC74A HGNC ENSG00000163040 tier1 - - 68 0 0.00 45 14 23.73 9 0 0.00 5 6 54.55 NEB 0 genome.wustl.edu 37 2 152463201 152463201 + Silent SNP G G A TCGA-DX-A23R-01A-11D-A26G-09 TCGA-DX-A23R-10A-01D-A26G-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 35c797fd-ca81-4cef-b6c4-7e3776f661b3 daf47fe1-0c16-4711-a274-db2c20165c2c 2 152463201 152463201 G A SNP NEB ENST00000397345 human ensembl 74_37 -1 known silent c.12666 p.D4222 0.886 pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 tier1 - - 148 0 0.00 22 116 84.06 26 0 0.00 1 22 95.65 PML 0 genome.wustl.edu 37 15 74290386 74290386 + Silent SNP C C T TCGA-DX-A23R-01A-11D-A26G-09 TCGA-DX-A23R-10A-01D-A26G-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 35c797fd-ca81-4cef-b6c4-7e3776f661b3 daf47fe1-0c16-4711-a274-db2c20165c2c 15 74290386 74290386 C T SNP PML ENST00000268058 human ensembl 74_37 +1 known silent c.171 p.C57 0.980 smart_Znf_RING,pfscan_Znf_RING pfam_DUF3583,pfam_Znf_B-box,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors PML HGNC ENSG00000140464 tier1 - - 67 0 0.00 20 40 66.67 17 0 0.00 7 6 46.15 SATB1 0 genome.wustl.edu 37 3 18457620 18457620 + Missense_Mutation SNP T T A TCGA-DX-A23R-01A-11D-A26G-09 TCGA-DX-A23R-10A-01D-A26G-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 35c797fd-ca81-4cef-b6c4-7e3776f661b3 daf47fe1-0c16-4711-a274-db2c20165c2c 3 18457620 18457620 T A SNP SATB1 ENST00000417717 human ensembl 74_37 -1 known missense c.394 p.I132F 0.999 NULL pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_D-bd_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT - no_errors SATB1 HGNC ENSG00000182568 tier1 - - 36 0 0.00 41 9 18.00 67 0 0.00 79 8 9.20 CYP11A1 0 genome.wustl.edu 37 15 74636134 74636134 + Silent SNP A A G TCGA-DX-A23R-01A-11D-A26G-09 TCGA-DX-A23R-10A-01D-A26G-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 35c797fd-ca81-4cef-b6c4-7e3776f661b3 daf47fe1-0c16-4711-a274-db2c20165c2c 15 74636134 74636134 A G SNP CYP11A1 ENST00000268053 human ensembl 74_37 -1 known silent c.825 p.S275 0.031 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_mitochondrial,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP11A1 HGNC ENSG00000140459 tier1 - - 29 0 0.00 21 4 16.00 69 0 0.00 55 4 6.78 RBM6 0 genome.wustl.edu 37 3 50004794 50004794 + R DEL A A - TCGA-DX-A23R-01A-11D-A26G-09 TCGA-DX-A23R-10A-01D-A26G-09 A A A - A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 35c797fd-ca81-4cef-b6c4-7e3776f661b3 daf47fe1-0c16-4711-a274-db2c20165c2c 3 50004794 50004794 A - DEL RBM6 ENST00000488807 human ensembl 74_37 +1 putative rna NULL NULL 1.000 - - - no_errors RBM6 HGNC ENSG00000004534 tier1 21 0 0.00 25 3 10.71 47 0 0.00 50 5 9.09 ACADVL 0 genome.wustl.edu 37 17 7123240 7123241 + R INS - - GGGCGTGCAGGACGC TCGA-DX-A23R-01A-11D-A26G-09 TCGA-DX-A23R-10A-01D-A26G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35c797fd-ca81-4cef-b6c4-7e3776f661b3 daf47fe1-0c16-4711-a274-db2c20165c2c 17 7123240 7123241 - GGGCGTGCAGGACGC INS ACADVL ENST00000577857 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors ACADVL HGNC ENSG00000072778 tier1 5 0 0.00 3 0 0.00 5 0 0.00 3 0 0.00 ANKLE1 0 genome.wustl.edu 37 19 17397486 17397501 + Frame_Shift_Del DEL TGTGTGTGTGTGTGTT TGTGTGTGTGTGTGTT - TCGA-DX-A23R-01A-11D-A26G-09 TCGA-DX-A23R-10A-01D-A26G-09 TGTGTGTGTGTGTGTT TGTGTGTGTGTGTGTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35c797fd-ca81-4cef-b6c4-7e3776f661b3 daf47fe1-0c16-4711-a274-db2c20165c2c 19 17397486 17397501 TGTGTGTGTGTGTGTT - DEL ANKLE1 ENST00000598347 human ensembl 74_37 +1 putative frame_shift_del c.1756_1771 p.C590fs 0.820:0.697:0.344:0.098:0.082:0.071:0.072:0.077:0.073:0.072:0.083:0.085:0.079:0.064:0.026:0.004 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Lactate_DH/Glyco_Ohase_4_C,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKLE1 HGNC ENSG00000160117 tier1 12 0 0.00 5 0 0.00 12 0 0.00 5 0 0.00 XYLB 0 genome.wustl.edu 37 3 38411731 38411732 + R INS - - CACCCA TCGA-DX-A23R-01A-11D-A26G-09 TCGA-DX-A23R-10A-01D-A26G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35c797fd-ca81-4cef-b6c4-7e3776f661b3 daf47fe1-0c16-4711-a274-db2c20165c2c 3 38411731 38411732 - CACCCA INS XYLB ENST00000487569 human ensembl 74_37 +1 putative rna NULL NULL 0.000:0.000 - - - no_errors XYLB HGNC ENSG00000093217 tier1 11 0 0.00 7 0 0.00 11 0 0.00 7 0 0.00 ENSG00000272231 0 genome.wustl.edu 37 12 74293692 74293701 + R DEL ATACACATAC ATACACATAC - TCGA-DX-A23R-01A-11D-A26G-09 TCGA-DX-A23R-10A-01D-A26G-09 ATACACATAC ATACACATAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35c797fd-ca81-4cef-b6c4-7e3776f661b3 daf47fe1-0c16-4711-a274-db2c20165c2c 12 74293692 74293701 ATACACATAC - DEL ENSG00000272231 ENST00000606199 human ensembl 74_37 +1 novel rna NULL NULL 0.002:0.002:0.002:0.002:0.004:0.007:0.009:0.010:0.011:0.011 - - - no_errors AC136188.1 Clone_based_ensembl_gene ENSG00000272231 tier1 0 0 0.00 0 0 0.00 0 0 0.00 0 0 0.00 ZNF100 0 genome.wustl.edu 37 19 21910048 21910048 + Missense_Mutation SNP G G C TCGA-DX-A23R-01A-11D-A26G-09 TCGA-DX-A23R-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35c797fd-ca81-4cef-b6c4-7e3776f661b3 daf47fe1-0c16-4711-a274-db2c20165c2c 19 21910048 21910048 G C SNP ZNF100 ENST00000358296 human ensembl 74_37 -1 known missense c.1066 p.Q356E 0.003 pfam_Znf_C2H2,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 ZNF100 HGNC ENSG00000197020 tier1 - - 44 0 0.00 57 25 28.41 3 0 0.00 4 0 0.00 ZNF100 0 genome.wustl.edu 37 19 21910049 21910049 + Silent SNP G G A TCGA-DX-A23R-01A-11D-A26G-09 TCGA-DX-A23R-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35c797fd-ca81-4cef-b6c4-7e3776f661b3 daf47fe1-0c16-4711-a274-db2c20165c2c 19 21910049 21910049 G A SNP ZNF100 ENST00000358296 human ensembl 74_37 -1 known silent c.1065 p.N355 0.000 pfam_Znf_C2H2,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 ZNF100 HGNC ENSG00000197020 tier1 - - 44 0 0.00 64 25 28.09 3 0 0.00 5 0 0.00 ZNF100 0 genome.wustl.edu 37 19 21910055 21910055 + Silent SNP G G A TCGA-DX-A23R-01A-11D-A26G-09 TCGA-DX-A23R-10A-01D-A26G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35c797fd-ca81-4cef-b6c4-7e3776f661b3 daf47fe1-0c16-4711-a274-db2c20165c2c 19 21910055 21910055 G A SNP ZNF100 ENST00000358296 human ensembl 74_37 -1 known silent c.1059 p.A353 0.001 pfam_Znf_C2H2,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 ZNF100 HGNC ENSG00000197020 tier1 - - 44 0 0.00 65 28 30.11 3 0 0.00 5 0 0.00 ZNF839 0 genome.wustl.edu 37 14 102808557 102808558 + R INS - - A TCGA-DX-A23R-01A-11D-A26G-09 TCGA-DX-A23R-10A-01D-A26G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 35c797fd-ca81-4cef-b6c4-7e3776f661b3 daf47fe1-0c16-4711-a274-db2c20165c2c 14 102808557 102808558 - A INS ZNF839 ENST00000420933 human ensembl 74_37 +1 known rna NULL NULL 0.005:0.008 - - - no_errors ZNF839 HGNC ENSG00000022976 tier1 27 0 0.00 15 3 16.67 30 0 0.00 34 2 5.56