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 CHD7 0 genome.wustl.edu 37 8 61655261 61655261 + Missense_Mutation SNP G G T TCGA-X6-A7WD-01A-21D-A351-09 TCGA-X6-A7WD-10A-01D-A351-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a327d8b-23f5-46e7-91a9-33e4fd0bf8d4 91308f69-8b3e-4ceb-9754-926945ab8da8 8 61655261 61655261 G T SNP CHD7 ENST00000423902 human ensembl 74_37 +1 known missense c.1270 p.V424F 1.000 NULL pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD7 HGNC ENSG00000171316 tier1 - - 55 0 0.00 40 26 39.39 109 0 0.00 73 56 43.41 KDM4A 0 genome.wustl.edu 37 1 44132716 44132716 + Missense_Mutation SNP A A G TCGA-X6-A7WD-01A-21D-A351-09 TCGA-X6-A7WD-10A-01D-A351-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a327d8b-23f5-46e7-91a9-33e4fd0bf8d4 91308f69-8b3e-4ceb-9754-926945ab8da8 1 44132716 44132716 A G SNP KDM4A ENST00000372396 human ensembl 74_37 +1 known missense c.869 p.N290S 1.000 pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4A HGNC ENSG00000066135 tier1 - - 40 0 0.00 4 25 86.21 120 0 0.00 15 47 75.81 SGK223 0 genome.wustl.edu 37 8 8235488 8235488 + Missense_Mutation SNP C C G TCGA-X6-A7WD-01A-21D-A351-09 TCGA-X6-A7WD-10A-01D-A351-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a327d8b-23f5-46e7-91a9-33e4fd0bf8d4 91308f69-8b3e-4ceb-9754-926945ab8da8 8 8235488 8235488 C G SNP SGK223 ENST00000330777 human ensembl 74_37 -1 known missense c.431 p.G144A 0.007 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom - no_errors SGK223 Uniprot_gn ENSG00000182319 tier1 - - 60 0 0.00 65 46 41.44 66 0 0.00 23 19 45.24 LPCAT1 0 genome.wustl.edu 37 5 1463892 1463892 + Silent SNP C C T TCGA-X6-A7WD-01A-21D-A351-09 TCGA-X6-A7WD-10A-01D-A351-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a327d8b-23f5-46e7-91a9-33e4fd0bf8d4 91308f69-8b3e-4ceb-9754-926945ab8da8 5 1463892 1463892 C T SNP LPCAT1 ENST00000283415 human ensembl 74_37 -1 known silent c.1479 p.P493 0.004 NULL pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors LPCAT1 HGNC ENSG00000153395 tier1 - - 67 0 0.00 78 14 15.22 114 0 0.00 105 21 16.67 RB1 0 genome.wustl.edu 37 13 48955538 48955538 + Nonsense_Mutation SNP C C T TCGA-X6-A7WD-01A-21D-A351-09 TCGA-X6-A7WD-10A-01D-A351-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a327d8b-23f5-46e7-91a9-33e4fd0bf8d4 91308f69-8b3e-4ceb-9754-926945ab8da8 13 48955538 48955538 C T SNP RB1 ENST00000267163 human ensembl 74_37 +1 known nonsense c.1654 p.R552* 1.000 pfam_RB_A,superfamily_Cyclin-like pfam_RB_C,pfam_RB_A,pfam_RB_B,pfam_RB_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors RB1 HGNC ENSG00000139687 tier1 rs121913303 - 48 0 0.00 11 26 70.27 73 0 0.00 20 38 65.52 LRRK1 0 genome.wustl.edu 37 15 101609095 101609095 + R SNP G G A TCGA-X6-A7WD-01A-21D-A351-09 TCGA-X6-A7WD-10A-01D-A351-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a327d8b-23f5-46e7-91a9-33e4fd0bf8d4 91308f69-8b3e-4ceb-9754-926945ab8da8 15 101609095 101609095 G A SNP LRRK1 ENST00000532145 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors LRRK1 HGNC ENSG00000154237 tier1 - - 43 0 0.00 34 27 43.55 47 0 0.00 12 21 63.64 OR9G4 0 genome.wustl.edu 37 11 56510853 56510853 + Silent SNP C C T TCGA-X6-A7WD-01A-21D-A351-09 TCGA-X6-A7WD-10A-01D-A351-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a327d8b-23f5-46e7-91a9-33e4fd0bf8d4 91308f69-8b3e-4ceb-9754-926945ab8da8 11 56510853 56510853 C T SNP OR9G4 ENST00000302957 human ensembl 74_37 -1 known silent c.435 p.L145 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR9G4 HGNC ENSG00000172457 tier1 - - 52 0 0.00 42 23 34.85 109 0 0.00 56 23 29.11 GNPTAB 0 genome.wustl.edu 37 12 102161768 102161768 + Missense_Mutation SNP A A C TCGA-X6-A7WD-01A-21D-A351-09 TCGA-X6-A7WD-10A-01D-A351-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a327d8b-23f5-46e7-91a9-33e4fd0bf8d4 91308f69-8b3e-4ceb-9754-926945ab8da8 12 102161768 102161768 A C SNP GNPTAB ENST00000549940 human ensembl 74_37 -1 known missense c.1455 p.F485L 0.000 NULL pfam_Notch_dom,pfam_DUF3184,superfamily_Notch_dom,smart_Notch_dom,pfscan_Notch_dom - no_errors GNPTAB HGNC ENSG00000111670 tier1 - - 43 0 0.00 34 33 49.25 118 0 0.00 67 81 54.73 GIF 0 genome.wustl.edu 37 11 59603420 59603420 + Missense_Mutation SNP T T C TCGA-X6-A7WD-01A-21D-A351-09 TCGA-X6-A7WD-10A-01D-A351-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a327d8b-23f5-46e7-91a9-33e4fd0bf8d4 91308f69-8b3e-4ceb-9754-926945ab8da8 11 59603420 59603420 T C SNP GIF ENST00000257248 human ensembl 74_37 -1 known missense c.934 p.I312V 0.997 pfam_Cbl-bd_transpt_euk pfam_Cbl-bd_transpt_euk - no_errors GIF HGNC ENSG00000134812 tier1 - - 39 0 0.00 56 35 38.46 98 0 0.00 41 38 48.10 NMRK2 0 genome.wustl.edu 37 19 3939924 3939924 + Missense_Mutation SNP G G A TCGA-X6-A7WD-01A-21D-A351-09 TCGA-X6-A7WD-10A-01D-A351-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a327d8b-23f5-46e7-91a9-33e4fd0bf8d4 91308f69-8b3e-4ceb-9754-926945ab8da8 19 3939924 3939924 G A SNP NMRK2 ENST00000168977 human ensembl 74_37 +1 known missense c.350 p.R117Q 0.594 superfamily_P-loop_NTPase superfamily_P-loop_NTPase - no_errors NMRK2 HGNC ENSG00000077009 tier1 rs140113877 - 76 0 0.00 76 22 22.45 95 1 1.04 92 30 24.39 CHR5 0 genome.wustl.edu 37 15 78873234 78873234 + Missense_Mutation SNP G G A TCGA-X6-A7WD-01A-21D-A351-09 TCGA-X6-A7WD-10A-01D-A351-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a327d8b-23f5-46e7-91a9-33e4fd0bf8d4 91308f69-8b3e-4ceb-9754-926945ab8da8 15 78873234 78873234 G A SNP CHR5 ENST00000299565 human ensembl 74_37 +1 known missense c.188 p.R63H 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,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 CHR5 HGNC ENSG00000169684 tier1 rs202057419 - 100 0 0.00 82 62 43.06 67 0 0.00 47 22 31.88 POLN 0 genome.wustl.edu 37 4 2074696 2074696 + Missense_Mutation SNP T T G TCGA-X6-A7WD-01A-21D-A351-09 TCGA-X6-A7WD-10A-01D-A351-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a327d8b-23f5-46e7-91a9-33e4fd0bf8d4 91308f69-8b3e-4ceb-9754-926945ab8da8 4 2074696 2074696 T G SNP POLN ENST00000382865 human ensembl 74_37 -1 known missense c.2516 p.Q839P 1.000 pfam_D-dir_D_pol_A_palm_dom pfam_D-dir_D_pol_A_palm_dom,superfamily_RNaseH-like_dom,smart_D-dir_D_pol_A_palm_dom,prints_D_polymerase_A - no_errors POLN HGNC ENSG00000130997 tier1 - - 58 0 0.00 55 45 45.00 52 0 0.00 19 16 45.71 ATP13A4 0 genome.wustl.edu 37 3 193174850 193174850 + Missense_Mutation SNP G G T TCGA-X6-A7WD-01A-21D-A351-09 TCGA-X6-A7WD-10A-01D-A351-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a327d8b-23f5-46e7-91a9-33e4fd0bf8d4 91308f69-8b3e-4ceb-9754-926945ab8da8 3 193174850 193174850 G T SNP ATP13A4 ENST00000342695 human ensembl 74_37 -1 known missense c.1854 p.D618E 0.031 pfam_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_Cation_typ_V,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP13A4 HGNC ENSG00000127249 tier1 - - 36 0 0.00 30 18 37.50 112 1 0.88 50 49 49.49 DIAPH2 0 genome.wustl.edu 37 X 96354765 96354765 + Missense_Mutation SNP C C A TCGA-X6-A7WD-01A-21D-A351-09 TCGA-X6-A7WD-10A-01D-A351-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a327d8b-23f5-46e7-91a9-33e4fd0bf8d4 91308f69-8b3e-4ceb-9754-926945ab8da8 X 96354765 96354765 C A SNP DIAPH2 ENST00000324765 human ensembl 74_37 +1 known missense c.2320 p.L774I 1.000 pfam_FH2_Formin,smart_FH2_Formin pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_Drf_DAD,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors DIAPH2 HGNC ENSG00000147202 tier1 - - 42 0 0.00 11 23 67.65 71 0 0.00 14 44 75.86 GRIA4 0 genome.wustl.edu 37 11 105483056 105483056 + Missense_Mutation SNP A A G TCGA-X6-A7WD-01A-21D-A351-09 TCGA-X6-A7WD-10A-01D-A351-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a327d8b-23f5-46e7-91a9-33e4fd0bf8d4 91308f69-8b3e-4ceb-9754-926945ab8da8 11 105483056 105483056 A G SNP GRIA4 ENST00000282499 human ensembl 74_37 +1 known missense c.142 p.I48V 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIA4 HGNC ENSG00000152578 tier1 - - 71 0 0.00 59 42 41.18 100 0 0.00 60 43 41.75 COQ5 0 genome.wustl.edu 37 12 120942762 120942762 + Silent SNP G G A TCGA-X6-A7WD-01A-21D-A351-09 TCGA-X6-A7WD-10A-01D-A351-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a327d8b-23f5-46e7-91a9-33e4fd0bf8d4 91308f69-8b3e-4ceb-9754-926945ab8da8 12 120942762 120942762 G A SNP COQ5 ENST00000288532 human ensembl 74_37 -1 known silent c.706 p.L236 1.000 pfam_UbiE/COQ5_MeTrFase,pfam_Methyltransf_11,pfam_Methyltransf_12,tigrfam_UbiE/COQ5_MeTrFase pfam_UbiE/COQ5_MeTrFase,pfam_Methyltransf_11,pfam_Methyltransf_12,tigrfam_UbiE/COQ5_MeTrFase - no_errors COQ5 HGNC ENSG00000110871 tier1 - - 63 0 0.00 24 20 45.45 187 0 0.00 68 79 53.38 OR10Q1 0 genome.wustl.edu 37 11 57996303 57996303 + Missense_Mutation SNP C C A TCGA-X6-A7WD-01A-21D-A351-09 TCGA-X6-A7WD-10A-01D-A351-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a327d8b-23f5-46e7-91a9-33e4fd0bf8d4 91308f69-8b3e-4ceb-9754-926945ab8da8 11 57996303 57996303 C A SNP OR10Q1 ENST00000316770 human ensembl 74_37 -1 known missense c.45 p.E15D 0.807 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10Q1 HGNC ENSG00000180475 tier1 - - 41 0 0.00 32 23 41.82 103 0 0.00 75 40 34.78 GABRR1 0 genome.wustl.edu 37 6 89895101 89895101 + Missense_Mutation SNP G G A TCGA-X6-A7WD-01A-21D-A351-09 TCGA-X6-A7WD-10A-01D-A351-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a327d8b-23f5-46e7-91a9-33e4fd0bf8d4 91308f69-8b3e-4ceb-9754-926945ab8da8 6 89895101 89895101 G A SNP GABRR1 ENST00000454853 human ensembl 74_37 -1 known missense c.724 p.R242W 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAa_rho1_rcpt,prints_Neur_channel,prints_GABAAa_rho_rcpt,tigrfam_Neur_channel - no_errors GABRR1 HGNC ENSG00000146276 tier1 rs200602822 - 55 0 0.00 42 26 38.24 125 0 0.00 61 61 50.00 PENK 0 genome.wustl.edu 37 8 57353842 57353842 + Missense_Mutation SNP T T C TCGA-X6-A7WD-01A-21D-A351-09 TCGA-X6-A7WD-10A-01D-A351-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a327d8b-23f5-46e7-91a9-33e4fd0bf8d4 91308f69-8b3e-4ceb-9754-926945ab8da8 8 57353842 57353842 T C SNP PENK ENST00000314922 human ensembl 74_37 -1 known missense c.793 p.M265V 1.000 NULL pfam_Opioid_neupept,prints_Proenkphlin_A,prints_Opioid_neupept - no_errors PENK HGNC ENSG00000181195 tier1 - - 83 0 0.00 42 27 38.57 158 0 0.00 93 58 38.41 TTN 0 genome.wustl.edu 37 2 179511230 179511230 + Missense_Mutation SNP C C T TCGA-X6-A7WD-01A-21D-A351-09 TCGA-X6-A7WD-10A-01D-A351-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a327d8b-23f5-46e7-91a9-33e4fd0bf8d4 91308f69-8b3e-4ceb-9754-926945ab8da8 2 179511230 179511230 C T SNP TTN ENST00000589042 human ensembl 74_37 -1 putative missense c.40279 p.E13427K 0.999 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_PPAK_motif,pfam_Titin_Z,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,superfamily_ARM-type_fold,superfamily_P-loop_NTPase,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 43 0 0.00 35 30 45.45 113 0 0.00 70 52 42.62 KIF25 0 genome.wustl.edu 37 6 168443353 168443353 + Silent SNP G G A TCGA-X6-A7WD-01A-21D-A351-09 TCGA-X6-A7WD-10A-01D-A351-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a327d8b-23f5-46e7-91a9-33e4fd0bf8d4 91308f69-8b3e-4ceb-9754-926945ab8da8 6 168443353 168443353 G A SNP KIF25 ENST00000354419 human ensembl 74_37 +1 known silent c.942 p.P314 0.157 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF25 HGNC ENSG00000125337 tier1 rs147561163 - 51 0 0.00 50 38 43.18 73 0 0.00 44 20 31.25 SYNPO 0 genome.wustl.edu 37 5 150028887 150028887 + Silent SNP G G A TCGA-X6-A7WD-01A-21D-A351-09 TCGA-X6-A7WD-10A-01D-A351-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a327d8b-23f5-46e7-91a9-33e4fd0bf8d4 91308f69-8b3e-4ceb-9754-926945ab8da8 5 150028887 150028887 G A SNP SYNPO ENST00000394243 human ensembl 74_37 +1 known silent c.1782 p.K594 0.235 NULL NULL - no_errors SYNPO HGNC ENSG00000171992 tier1 - - 42 0 0.00 34 21 38.18 62 0 0.00 43 22 33.85 LRRC16B 0 genome.wustl.edu 37 14 24525877 24525877 + Silent SNP C C T TCGA-X6-A7WD-01A-21D-A351-09 TCGA-X6-A7WD-10A-01D-A351-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a327d8b-23f5-46e7-91a9-33e4fd0bf8d4 91308f69-8b3e-4ceb-9754-926945ab8da8 14 24525877 24525877 C T SNP LRRC16B ENST00000342740 human ensembl 74_37 +1 known silent c.912 p.L304 1.000 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC16B HGNC ENSG00000186648 tier1 - - 52 0 0.00 40 28 41.18 69 0 0.00 30 36 54.55 ATRX 0 genome.wustl.edu 37 X 76763007 76763007 + R SNP G G A TCGA-X6-A7WD-01A-21D-A351-09 TCGA-X6-A7WD-10A-01D-A351-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a327d8b-23f5-46e7-91a9-33e4fd0bf8d4 91308f69-8b3e-4ceb-9754-926945ab8da8 X 76763007 76763007 G A SNP ATRX ENST00000480283 human ensembl 74_37 -1 known rna NULL NULL 0.075 - - - no_errors ATRX HGNC ENSG00000085224 tier1 - - 50 0 0.00 9 38 80.85 67 0 0.00 13 33 71.74 POLE 0 genome.wustl.edu 37 12 133220026 133220026 + Missense_Mutation SNP G G A TCGA-X6-A7WD-01A-21D-A351-09 TCGA-X6-A7WD-10A-01D-A351-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a327d8b-23f5-46e7-91a9-33e4fd0bf8d4 91308f69-8b3e-4ceb-9754-926945ab8da8 12 133220026 133220026 G A SNP POLE ENST00000320574 human ensembl 74_37 -1 known missense c.4411 p.R1471C 1.000 NULL pfam_D_pol_e_suA_C,pfam_D-dir_D_pol_B_exonuc,pfam_D-dir_D_pol_B_multi_dom,pfam_3'-5'_exonuclease_PolB-like,superfamily_RNaseH-like_dom,smart_D-dir_D_pol_B - no_errors POLE HGNC ENSG00000177084 tier1 - - 44 0 0.00 34 26 43.33 129 1 0.77 63 38 37.62 TBX5 0 genome.wustl.edu 37 12 114836461 114836461 + Missense_Mutation SNP C C T TCGA-X6-A7WD-01A-21D-A351-09 TCGA-X6-A7WD-10A-01D-A351-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a327d8b-23f5-46e7-91a9-33e4fd0bf8d4 91308f69-8b3e-4ceb-9754-926945ab8da8 12 114836461 114836461 C T SNP TBX5 ENST00000310346 human ensembl 74_37 -1 known missense c.427 p.A143T 0.998 pfam_TF_T-box,superfamily_p53-like_TF_D-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box pfam_TF_T-box,superfamily_p53-like_TF_D-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX5 HGNC ENSG00000089225 tier1 - - 42 0 0.00 29 18 38.30 93 0 0.00 50 33 39.76 NEB 0 genome.wustl.edu 37 2 152527713 152527713 + Silent SNP A A G TCGA-X6-A7WD-01A-21D-A351-09 TCGA-X6-A7WD-10A-01D-A351-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a327d8b-23f5-46e7-91a9-33e4fd0bf8d4 91308f69-8b3e-4ceb-9754-926945ab8da8 2 152527713 152527713 A G SNP NEB ENST00000397345 human ensembl 74_37 -1 known silent c.4330 p.L1444 0.984 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 - - 100 0 0.00 135 19 12.34 100 0 0.00 97 28 22.40 TSPYL6 0 genome.wustl.edu 37 2 54483161 54483161 + Missense_Mutation SNP C C A TCGA-X6-A7WD-01A-21D-A351-09 TCGA-X6-A7WD-10A-01D-A351-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a327d8b-23f5-46e7-91a9-33e4fd0bf8d4 91308f69-8b3e-4ceb-9754-926945ab8da8 2 54483161 54483161 C A SNP TSPYL6 ENST00000317802 human ensembl 74_37 -1 known missense c.128 p.R43L 0.156 NULL pfam_P_family - no_errors TSPYL6 HGNC ENSG00000178021 tier1 - - 73 0 0.00 52 29 35.80 62 0 0.00 52 18 25.71 PLEKHO1 0 genome.wustl.edu 37 1 150131553 150131553 + Silent SNP G G T TCGA-X6-A7WD-01A-21D-A351-09 TCGA-X6-A7WD-10A-01D-A351-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a327d8b-23f5-46e7-91a9-33e4fd0bf8d4 91308f69-8b3e-4ceb-9754-926945ab8da8 1 150131553 150131553 G T SNP PLEKHO1 ENST00000025469 human ensembl 74_37 +1 known silent c.963 p.T321 0.292 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHO1 HGNC ENSG00000023902 tier1 - - 43 0 0.00 26 17 39.53 38 0 0.00 23 11 32.35 PDE7A 0 genome.wustl.edu 37 8 66701116 66701116 + Splice_Site SNP C C T TCGA-X6-A7WD-01A-21D-A351-09 TCGA-X6-A7WD-10A-01D-A351-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a327d8b-23f5-46e7-91a9-33e4fd0bf8d4 91308f69-8b3e-4ceb-9754-926945ab8da8 8 66701116 66701116 C T SNP PDE7A ENST00000379419 human ensembl 74_37 -1 known splice_site c.60+1 e1+1 1.000 - - - no_errors PDE7A HGNC ENSG00000205268 tier1 - - 47 0 0.00 26 25 49.02 92 0 0.00 69 68 49.64 ABCB4 0 genome.wustl.edu 37 7 87069600 87069600 + Missense_Mutation SNP T T C TCGA-X6-A7WD-01A-21D-A351-09 TCGA-X6-A7WD-10A-01D-A351-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a327d8b-23f5-46e7-91a9-33e4fd0bf8d4 91308f69-8b3e-4ceb-9754-926945ab8da8 7 87069600 87069600 T C SNP ABCB4 ENST00000265723 human ensembl 74_37 -1 known missense c.1475 p.Y492C 1.000 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,pfam_Zeta_toxin_domain,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB4 HGNC ENSG00000005471 tier1 - - 69 0 0.00 57 35 38.04 81 0 0.00 67 34 33.66 ZNF570 0 genome.wustl.edu 37 19 37975446 37975446 + Silent SNP C C A TCGA-X6-A7WD-01A-21D-A351-09 TCGA-X6-A7WD-10A-01D-A351-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a327d8b-23f5-46e7-91a9-33e4fd0bf8d4 91308f69-8b3e-4ceb-9754-926945ab8da8 19 37975446 37975446 C A SNP ZNF570 ENST00000330173 human ensembl 74_37 +1 known silent c.922 p.R308 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 ZNF570 HGNC ENSG00000171827 tier1 - - 61 0 0.00 53 39 42.39 93 0 0.00 56 37 39.78 COL6A3 0 genome.wustl.edu 37 2 238253180 238253180 + Missense_Mutation SNP A A G TCGA-X6-A7WD-01A-21D-A351-09 TCGA-X6-A7WD-10A-01D-A351-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a327d8b-23f5-46e7-91a9-33e4fd0bf8d4 91308f69-8b3e-4ceb-9754-926945ab8da8 2 238253180 238253180 A G SNP COL6A3 ENST00000295550 human ensembl 74_37 -1 known missense c.7481 p.V2494A 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL6A3 HGNC ENSG00000163359 tier1 - - 49 0 0.00 11 31 73.81 110 1 0.90 13 50 79.37 ATP2A2 0 genome.wustl.edu 37 12 110770407 110770407 + Missense_Mutation SNP C C A TCGA-X6-A7WD-01A-21D-A351-09 TCGA-X6-A7WD-10A-01D-A351-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a327d8b-23f5-46e7-91a9-33e4fd0bf8d4 91308f69-8b3e-4ceb-9754-926945ab8da8 12 110770407 110770407 C A SNP ATP2A2 ENST00000539276 human ensembl 74_37 +1 known missense c.1101 p.F367L 1.000 superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Ca-transp_IIA,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_IIA,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2A2 HGNC ENSG00000174437 tier1 - - 88 0 0.00 48 28 36.84 104 0 0.00 94 41 30.37 RAMP2-AS1 0 genome.wustl.edu 37 17 40913022 40913022 + R SNP C C T TCGA-X6-A7WD-01A-21D-A351-09 TCGA-X6-A7WD-10A-01D-A351-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a327d8b-23f5-46e7-91a9-33e4fd0bf8d4 91308f69-8b3e-4ceb-9754-926945ab8da8 17 40913022 40913022 C T SNP RAMP2-AS1 ENST00000360166 human ensembl 74_37 -1 known rna NULL NULL 0.992 - - - no_errors RAMP2-AS1 HGNC ENSG00000197291 tier1 - - 12 0 0.00 12 14 53.85 42 0 0.00 32 9 21.95 DH9 0 genome.wustl.edu 37 17 11515104 11515104 + Missense_Mutation SNP A A G TCGA-X6-A7WD-01A-21D-A351-09 TCGA-X6-A7WD-10A-01D-A351-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a327d8b-23f5-46e7-91a9-33e4fd0bf8d4 91308f69-8b3e-4ceb-9754-926945ab8da8 17 11515104 11515104 A G SNP DH9 ENST00000579828 human ensembl 74_37 +1 novel missense c.911 p.D304G 0.000 NULL pfam_Dynein_heavy_dom-1 - no_errors DH9 HGNC ENSG00000007174 tier1 - - 66 0 0.00 400 49 10.91 142 0 0.00 413 52 11.16 PHKB 0 genome.wustl.edu 37 16 47533690 47533690 + Missense_Mutation SNP C C G TCGA-X6-A7WD-01A-21D-A351-09 TCGA-X6-A7WD-10A-01D-A351-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a327d8b-23f5-46e7-91a9-33e4fd0bf8d4 91308f69-8b3e-4ceb-9754-926945ab8da8 16 47533690 47533690 C G SNP PHKB ENST00000299167 human ensembl 74_37 +1 known missense c.190 p.Q64E 1.000 pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like - no_errors PHKB HGNC ENSG00000102893 tier1 - - 96 0 0.00 65 35 35.00 134 0 0.00 71 22 23.66 UBE2G2 0 genome.wustl.edu 37 21 46193533 46193533 + Missense_Mutation SNP C C T TCGA-X6-A7WD-01A-21D-A351-09 TCGA-X6-A7WD-10A-01D-A351-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a327d8b-23f5-46e7-91a9-33e4fd0bf8d4 91308f69-8b3e-4ceb-9754-926945ab8da8 21 46193533 46193533 C T SNP UBE2G2 ENST00000345496 human ensembl 74_37 -1 known missense c.314 p.S105N 1.000 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2G2 HGNC ENSG00000184787 tier1 - - 40 0 0.00 23 32 58.18 26 0 0.00 15 14 48.28 GFI1B 0 genome.wustl.edu 37 9 135863692 135863692 + Missense_Mutation SNP G G T TCGA-X6-A7WD-01A-21D-A351-09 TCGA-X6-A7WD-10A-01D-A351-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a327d8b-23f5-46e7-91a9-33e4fd0bf8d4 91308f69-8b3e-4ceb-9754-926945ab8da8 9 135863692 135863692 G T SNP GFI1B ENST00000339463 human ensembl 74_37 +1 known missense c.347 p.G116V 0.417 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GFI1B HGNC ENSG00000165702 tier1 - - 81 0 0.00 86 38 30.40 73 0 0.00 57 38 40.00 MTG2 0 genome.wustl.edu 37 20 60772864 60772864 + R SNP G G C TCGA-X6-A7WD-01A-21D-A351-09 TCGA-X6-A7WD-10A-01D-A351-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a327d8b-23f5-46e7-91a9-33e4fd0bf8d4 91308f69-8b3e-4ceb-9754-926945ab8da8 20 60772864 60772864 G C SNP MTG2 ENST00000461411 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors MTG2 HGNC ENSG00000101181 tier1 - - 44 0 0.00 51 7 12.07 139 0 0.00 108 22 16.92 MTF2 0 genome.wustl.edu 37 1 93585109 93585109 + R SNP T T C TCGA-X6-A7WD-01A-21D-A351-09 TCGA-X6-A7WD-10A-01D-A351-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a327d8b-23f5-46e7-91a9-33e4fd0bf8d4 91308f69-8b3e-4ceb-9754-926945ab8da8 1 93585109 93585109 T C SNP MTF2 ENST00000468457 human ensembl 74_37 +1 known rna NULL NULL 0.071 - - - no_errors MTF2 HGNC ENSG00000143033 tier1 - - 18 0 0.00 22 11 33.33 53 0 0.00 40 23 36.51 GNPTAB 0 genome.wustl.edu 37 12 102161854 102161856 + In_Frame_Del DEL TAC TAC - TCGA-X6-A7WD-01A-21D-A351-09 TCGA-X6-A7WD-10A-01D-A351-09 TAC TAC TAC - TAC TAC Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a327d8b-23f5-46e7-91a9-33e4fd0bf8d4 91308f69-8b3e-4ceb-9754-926945ab8da8 12 102161854 102161856 TAC - DEL GNPTAB ENST00000299314 human ensembl 74_37 -1 known in_frame_del c.1369_1367 p.CN456in_frame_delY 1.000:1.000:1.000 pfam_Notch_dom,superfamily_Notch_dom,smart_Notch_dom,pfscan_Notch_dom pfam_DMAP1-bd,pfam_Notch_dom,pfam_DUF3184,superfamily_Notch_dom,smart_Notch_dom,pfscan_EF_hand_dom,pfscan_Notch_dom - no_errors GNPTAB HGNC ENSG00000111670 tier1 73 0 0.00 63 29 31.52 166 0 0.00 119 48 28.74 NEBL 0 genome.wustl.edu 37 10 21129758 21129758 + Silent SNP C C T TCGA-X6-A7WD-01A-21D-A351-09 TCGA-X6-A7WD-10A-01D-A351-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a327d8b-23f5-46e7-91a9-33e4fd0bf8d4 91308f69-8b3e-4ceb-9754-926945ab8da8 10 21129758 21129758 C T SNP NEBL ENST00000377122 human ensembl 74_37 -1 known silent c.1248 p.L416 1.000 smart_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_SH3_domain - no_errors NEBL HGNC ENSG00000078114 tier1 - - 22 0 0.00 3 14 82.35 51 0 0.00 1 34 97.14 NPTX2 0 genome.wustl.edu 37 7 98249052 98249052 + Missense_Mutation SNP G G A TCGA-X6-A7WD-01A-21D-A351-09 TCGA-X6-A7WD-10A-01D-A351-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a327d8b-23f5-46e7-91a9-33e4fd0bf8d4 91308f69-8b3e-4ceb-9754-926945ab8da8 7 98249052 98249052 G A SNP NPTX2 ENST00000265634 human ensembl 74_37 +1 known missense c.524 p.R175H 0.689 NULL pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin - no_errors NPTX2 HGNC ENSG00000106236 tier1 - - 45 0 0.00 33 23 40.35 11 0 0.00 5 5 50.00 SSH1 0 genome.wustl.edu 37 12 109182324 109182324 + Missense_Mutation SNP C C T TCGA-X6-A7WD-01A-21D-A351-09 TCGA-X6-A7WD-10A-01D-A351-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a327d8b-23f5-46e7-91a9-33e4fd0bf8d4 91308f69-8b3e-4ceb-9754-926945ab8da8 12 109182324 109182324 C T SNP SSH1 ENST00000326495 human ensembl 74_37 -1 known missense c.2590 p.A864T 0.000 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors SSH1 HGNC ENSG00000084112 tier1 - - 28 0 0.00 8 10 55.56 12 0 0.00 4 6 60.00 ZNF385B 0 genome.wustl.edu 37 2 180348073 180348073 + Missense_Mutation SNP G G T TCGA-X6-A7WD-01A-21D-A351-09 TCGA-X6-A7WD-10A-01D-A351-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6a327d8b-23f5-46e7-91a9-33e4fd0bf8d4 91308f69-8b3e-4ceb-9754-926945ab8da8 2 180348073 180348073 G T SNP ZNF385B ENST00000410066 human ensembl 74_37 -1 known missense c.596 p.P199H 1.000 NULL pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like - no_errors ZNF385B HGNC ENSG00000144331 tier1 - - 101 0 0.00 145 20 12.12 137 0 0.00 124 11 8.15 ANP32BP1 0 genome.wustl.edu 37 15 75614886 75614886 + R SNP C C T TCGA-X6-A7WD-01A-21D-A351-09 TCGA-X6-A7WD-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a327d8b-23f5-46e7-91a9-33e4fd0bf8d4 91308f69-8b3e-4ceb-9754-926945ab8da8 15 75614886 75614886 C T SNP ANP32BP1 ENST00000564205 human ensembl 74_37 -1 known rna NULL NULL 0.282 - - - no_errors ANP32BP1 HGNC ENSG00000259790 tier1 - - 74 0 0.00 76 44 36.67 10 0 0.00 4 1 20.00 SYT8 0 genome.wustl.edu 37 11 1856623 1856623 + Missense_Mutation SNP G G A TCGA-X6-A7WD-01A-21D-A351-09 TCGA-X6-A7WD-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a327d8b-23f5-46e7-91a9-33e4fd0bf8d4 91308f69-8b3e-4ceb-9754-926945ab8da8 11 1856623 1856623 G A SNP SYT8 ENST00000424556 human ensembl 74_37 +1 known missense c.209 p.G70E 0.140 NULL NULL - no_errors SYT8 HGNC ENSG00000149043 tier1 - - 36 0 0.00 37 24 39.34 7 0 0.00 5 0 0.00 CAC1H 0 genome.wustl.edu 37 16 1270617 1270617 + Missense_Mutation SNP A A T TCGA-X6-A7WD-01A-21D-A351-09 TCGA-X6-A7WD-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a327d8b-23f5-46e7-91a9-33e4fd0bf8d4 91308f69-8b3e-4ceb-9754-926945ab8da8 16 1270617 1270617 A T SNP CAC1H ENST00000348261 human ensembl 74_37 +1 known missense c.6685 p.R2229W 0.989 NULL pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_PKD_2 - no_errors CAC1H HGNC ENSG00000196557 tier1 - - 10 0 0.00 14 17 54.84 3 0 0.00 1 0 0.00 CD209 0 genome.wustl.edu 37 19 7810620 7810620 + Missense_Mutation SNP C C A TCGA-X6-A7WD-01A-21D-A351-09 TCGA-X6-A7WD-10A-01D-A351-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a327d8b-23f5-46e7-91a9-33e4fd0bf8d4 91308f69-8b3e-4ceb-9754-926945ab8da8 19 7810620 7810620 C A SNP CD209 ENST00000315599 human ensembl 74_37 -1 known missense c.532 p.A178S 0.002 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII - no_errors CD209 HGNC ENSG00000090659 tier1 - - 152 0 0.00 117 76 39.38 0 0 0.00 0 0 0.00 ENSG00000207207 0 genome.wustl.edu 37 2 85661741 85661741 + R DEL A A - TCGA-X6-A7WD-01A-21D-A351-09 TCGA-X6-A7WD-10A-01D-A351-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a327d8b-23f5-46e7-91a9-33e4fd0bf8d4 91308f69-8b3e-4ceb-9754-926945ab8da8 2 85661741 85661741 A - DEL ENSG00000207207 ENST00000384478 human ensembl 74_37 +1 novel rna NULL NULL 0.006 - - - no_errors Y_R RFAM ENSG00000207207 tier1 14 0 0.00 23 4 14.81 1 0 0.00 5 0 0.00 FAM230B 0 genome.wustl.edu 37 22 21537782 21537782 + R SNP G G A TCGA-X6-A7WD-01A-21D-A351-09 TCGA-X6-A7WD-10A-01D-A351-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a327d8b-23f5-46e7-91a9-33e4fd0bf8d4 91308f69-8b3e-4ceb-9754-926945ab8da8 22 21537782 21537782 G A SNP FAM230B ENST00000451257 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors FAM230B HGNC ENSG00000215498 tier1 rs12172393 - 30 0 0.00 43 8 15.69 0 0 0.00 1 0 0.00 HOXD8 0 genome.wustl.edu 37 2 176995302 176995303 + In_Frame_Ins INS - - CGCACC TCGA-X6-A7WD-01A-21D-A351-09 TCGA-X6-A7WD-10A-01D-A351-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6a327d8b-23f5-46e7-91a9-33e4fd0bf8d4 91308f69-8b3e-4ceb-9754-926945ab8da8 2 176995302 176995303 - CGCACC INS HOXD8 ENST00000313173 human ensembl 74_37 +1 known in_frame_ins c.208_209 p.74in_frame_insPH 0.993:1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,prints_Homeobox_metazoa,pfscan_Homeobox_dom - no_errors HOXD8 HGNC ENSG00000175879 tier1 0 0 0.00 0 0 0.00 0 0 0.00 0 0 0.00