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_WU start_WU stop_WU reference_WU variant_WU type_WU gene_name_WU transcript_name_WU transcript_species_WU transcript_source_WU transcript_version_WU strand_WU transcript_status_WU trv_type_WU c_position_WU amino_acid_change_WU ucsc_cons_WU domain_WU all_domains_WU deletion_substructures_WU transcript_error_WU default_gene_name_WU gene_name_source_WU ensembl_gene_id normal_ref_reads normal_var_reads normal_vaf tumor_ref_reads tumors_var_reads tumor_vaf EVS_EA EVS_AA EVS_All A2M 0 genome.wustl.edu 37 12 9251298 9251298 + Nonsense_Mutation SNP G G A TCGA-A8-A08G-01A-11W-A019-09 TCGA-A8-A08G-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8da61928-e935-4a33-8e46-840e637163d7 74a3a4af-c93a-4fcd-af11-1f5eeb847c3c 12 9251298 9251298 G A SNP A2M ENST00000318602 human ensembl 69_37n -1 known nonsense c.1756 p.R586* 0.003 pfam_A2M_N_2 pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,superfamily_Beta-lactam/transpept-like,superfamily_Cupredoxin - no_errors A2M HGNC ENSG00000175899 23 0 0.00 32 12 27.27 - - - AQP12A 0 genome.wustl.edu 37 2 241631413 241631413 + Missense_Mutation SNP T T G TCGA-A8-A08G-01A-11W-A019-09 TCGA-A8-A08G-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8da61928-e935-4a33-8e46-840e637163d7 74a3a4af-c93a-4fcd-af11-1f5eeb847c3c 2 241631413 241631413 T G SNP AQP12A ENST00000429564 human ensembl 69_37n +1 known missense c.83 p.L28R 0.987 pirsf_Aquaporin_11/12,prints_Aquaporin_12 pfam_MIP,superfamily_Aquaporin-like,pirsf_Aquaporin_11/12,prints_Aquaporin_12,prints_MIP - no_errors AQP12A HGNC ENSG00000184945 10 0 0.00 9 7 43.75 - - - BCAS1 0 genome.wustl.edu 37 20 52645062 52645062 + Missense_Mutation SNP A A T TCGA-A8-A08G-01A-11W-A019-09 TCGA-A8-A08G-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8da61928-e935-4a33-8e46-840e637163d7 74a3a4af-c93a-4fcd-af11-1f5eeb847c3c 20 52645062 52645062 A T SNP BCAS1 ENST00000371440 human ensembl 69_37n -1 known missense c.592 p.F198I 0.999 NULL NULL - no_errors BCAS1 HGNC ENSG00000064787 348 0 0.00 586 68 10.38 - - - CCDC30 0 genome.wustl.edu 37 1 43108213 43108213 + Nonsense_Mutation SNP G G T TCGA-A8-A08G-01A-11W-A019-09 TCGA-A8-A08G-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8da61928-e935-4a33-8e46-840e637163d7 74a3a4af-c93a-4fcd-af11-1f5eeb847c3c 1 43108213 43108213 G T SNP CCDC30 ENST00000340612 human ensembl 69_37n +1 known nonsense c.1708 p.E570* 0.976 NULL NULL - no_errors CCDC30 HGNC ENSG00000186409 437 0 0.00 442 118 21.07 - - - CHRM3 0 genome.wustl.edu 37 1 240071679 240071679 + Missense_Mutation SNP C C T TCGA-A8-A08G-01A-11W-A019-09 TCGA-A8-A08G-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8da61928-e935-4a33-8e46-840e637163d7 74a3a4af-c93a-4fcd-af11-1f5eeb847c3c 1 240071679 240071679 C T SNP CHRM3 ENST00000255380 human ensembl 69_37n +1 known missense c.928 p.R310C 0.972 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Musac_M3_rcpt pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_Musac_M3_rcpt,prints_Musac_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors CHRM3 HGNC ENSG00000133019 77 0 0.00 50 74 59.68 - - - DHRS9 0 genome.wustl.edu 37 2 169938396 169938396 + Missense_Mutation SNP G G A TCGA-A8-A08G-01A-11W-A019-09 TCGA-A8-A08G-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8da61928-e935-4a33-8e46-840e637163d7 74a3a4af-c93a-4fcd-af11-1f5eeb847c3c 2 169938396 169938396 G A SNP DHRS9 ENST00000432060 human ensembl 69_37n +1 known missense c.485 p.G162E 1.000 pfam_DH_sc/Rdtase_SDR pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors DHRS9 HGNC ENSG00000073737 190 0 0.00 175 27 13.37 - - - DNAH8 0 genome.wustl.edu 37 6 38840839 38840839 + Silent SNP C C T TCGA-A8-A08G-01A-11W-A019-09 TCGA-A8-A08G-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8da61928-e935-4a33-8e46-840e637163d7 74a3a4af-c93a-4fcd-af11-1f5eeb847c3c 6 38840839 38840839 C T SNP DNAH8 ENST00000359357 human ensembl 69_37n +1 known silent c.6744 p.I2248 0.951 pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH8 HGNC ENSG00000124721 229 0 0.00 245 49 16.61 - - - FRMD5 0 genome.wustl.edu 37 15 44166630 44166630 + Missense_Mutation SNP G G T TCGA-A8-A08G-01A-11W-A019-09 TCGA-A8-A08G-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8da61928-e935-4a33-8e46-840e637163d7 74a3a4af-c93a-4fcd-af11-1f5eeb847c3c 15 44166630 44166630 G T SNP FRMD5 ENST00000417257 human ensembl 69_37n -1 known missense c.1166 p.S389Y 1.000 NULL pfam_FERM_N,pfam_FERM_central,pfam_FERM-adjacent,pfam_FERM_PH-like_C,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin - no_errors FRMD5 HGNC ENSG00000171877 87 0 0.00 112 15 11.81 - - - GABRD 0 genome.wustl.edu 37 1 1956773 1956774 + Frame_Shift_Ins INS - - C TCGA-A8-A08G-01A-11W-A019-09 TCGA-A8-A08G-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8da61928-e935-4a33-8e46-840e637163d7 74a3a4af-c93a-4fcd-af11-1f5eeb847c3c 1 1956773 1956774 - C INS GABRD ENST00000378585 human ensembl 69_37n +1 known frame_shift_ins c.182_183 p.V64fs 0.996:0.018 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_GABAAd_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRD HGNC ENSG00000187730 9 0 0.00 5 2 28.57 - - - GRIK2 0 genome.wustl.edu 37 6 102337592 102337592 + Missense_Mutation SNP G G C TCGA-A8-A08G-01A-11W-A019-09 TCGA-A8-A08G-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8da61928-e935-4a33-8e46-840e637163d7 74a3a4af-c93a-4fcd-af11-1f5eeb847c3c 6 102337592 102337592 G C SNP GRIK2 ENST00000421544 human ensembl 69_37n +1 known missense c.1602 p.M534I 1.000 pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK2 HGNC ENSG00000164418 366 0 0.00 245 56 18.60 - - - HNF1B 0 genome.wustl.edu 37 17 36091721 36091721 + Missense_Mutation SNP T T C TCGA-A8-A08G-01A-11W-A019-09 TCGA-A8-A08G-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8da61928-e935-4a33-8e46-840e637163d7 74a3a4af-c93a-4fcd-af11-1f5eeb847c3c 17 36091721 36091721 T C SNP HNF1B ENST00000225893 human ensembl 69_37n -1 known missense c.910 p.R304G 0.983 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain pfam_HNF1b_C,pfam_HNF-1_N,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_HNF1_dimer_dom,smart_Homeodomain,pfscan_Homeodomain - no_errors HNF1B HGNC ENSG00000108753 42 0 0.00 58 38 39.58 - - - IGHV3-66 0 genome.wustl.edu 37 14 107131232 107131232 + Missense_Mutation SNP C C A TCGA-A8-A08G-01A-11W-A019-09 TCGA-A8-A08G-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8da61928-e935-4a33-8e46-840e637163d7 74a3a4af-c93a-4fcd-af11-1f5eeb847c3c 14 107131232 107131232 C A SNP IGHV3-66 ENST00000390632 human ensembl 69_37n -1 known missense c.149 p.S50I 0.122 pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like - no_stop_codon IGHV3-66 HGNC ENSG00000211972 494 0 0.00 416 141 25.31 - - - KCNB2 0 genome.wustl.edu 37 8 73848282 73848282 + Missense_Mutation SNP G G A TCGA-A8-A08G-01A-11W-A019-09 TCGA-A8-A08G-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8da61928-e935-4a33-8e46-840e637163d7 74a3a4af-c93a-4fcd-af11-1f5eeb847c3c 8 73848282 73848282 G A SNP KCNB2 ENST00000523207 human ensembl 69_37n +1 known missense c.692 p.R231H 0.368 NULL pfam_K_chnl_volt-dep_Kv2,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv2.2,prints_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv8 - no_errors KCNB2 HGNC ENSG00000182674 217 0 0.00 230 131 36.29 - - - KLHL7 0 genome.wustl.edu 37 7 23212573 23212573 + Silent SNP T T G TCGA-A8-A08G-01A-11W-A019-09 TCGA-A8-A08G-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8da61928-e935-4a33-8e46-840e637163d7 74a3a4af-c93a-4fcd-af11-1f5eeb847c3c 7 23212573 23212573 T G SNP KLHL7 ENST00000339077 human ensembl 69_37n +1 known silent c.1386 p.T462 1.000 pfam_Kelch_1,pfam_Kelch_2,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL7 HGNC ENSG00000122550 183 0 0.00 153 113 42.48 - - - MRPL11 0 genome.wustl.edu 37 11 66204842 66204842 + Missense_Mutation SNP C C G TCGA-A8-A08G-01A-11W-A019-09 TCGA-A8-A08G-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8da61928-e935-4a33-8e46-840e637163d7 74a3a4af-c93a-4fcd-af11-1f5eeb847c3c 11 66204842 66204842 C G SNP MRPL11 ENST00000310999 human ensembl 69_37n -1 known missense c.292 p.E98Q 1.000 pfam_Ribosomal_L11_C,superfamily_Ribosomal_L11_C,smart_Ribosomal_L11,tigrfam_Ribosomal_L11_bac-typ pfam_Ribosomal_L11_N,pfam_Ribosomal_L11_C,superfamily_Ribosomal_L11_N,superfamily_Ribosomal_L11_C,smart_Ribosomal_L11,tigrfam_Ribosomal_L11_bac-typ - no_errors MRPL11 HGNC ENSG00000174547 66 0 0.00 46 95 66.90 - - - NLRP5 0 genome.wustl.edu 37 19 56549506 56549506 + Missense_Mutation SNP G G T TCGA-A8-A08G-01A-11W-A019-09 TCGA-A8-A08G-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8da61928-e935-4a33-8e46-840e637163d7 74a3a4af-c93a-4fcd-af11-1f5eeb847c3c 19 56549506 56549506 G T SNP NLRP5 ENST00000390649 human ensembl 69_37n +1 known missense c.2731 p.V911L 0.000 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP5 HGNC ENSG00000171487 170 1 0.58 164 53 24.42 - - - NRXN1 0 genome.wustl.edu 37 2 50149131 50149131 + Missense_Mutation SNP T T C TCGA-A8-A08G-01A-11W-A019-09 TCGA-A8-A08G-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8da61928-e935-4a33-8e46-840e637163d7 74a3a4af-c93a-4fcd-af11-1f5eeb847c3c 2 50149131 50149131 T C SNP NRXN1 ENST00000402717 human ensembl 69_37n -1 known missense c.4451 p.K1484R 1.000 NULL pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_EGF-like,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN1 HGNC ENSG00000179915 270 0 0.00 204 27 11.69 - - - OR10R2 0 genome.wustl.edu 37 1 158449837 158449837 + Missense_Mutation SNP T T C TCGA-A8-A08G-01A-11W-A019-09 TCGA-A8-A08G-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8da61928-e935-4a33-8e46-840e637163d7 74a3a4af-c93a-4fcd-af11-1f5eeb847c3c 1 158449837 158449837 T C SNP OR10R2 ENST00000368152 human ensembl 69_37n +1 known missense c.170 p.V57A 0.061 prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR10R2 HGNC ENSG00000198965 510 0 0.00 904 137 13.16 - - - PCED1A 0 genome.wustl.edu 37 20 2816203 2816204 + Frame_Shift_Ins INS - - C TCGA-A8-A08G-01A-11W-A019-09 TCGA-A8-A08G-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8da61928-e935-4a33-8e46-840e637163d7 74a3a4af-c93a-4fcd-af11-1f5eeb847c3c 20 2816203 2816204 - C INS PCED1A ENST00000360652 human ensembl 69_37n -1 known frame_shift_ins c.1270_1269 p.P423fs 0.660:0.001 NULL superfamily_Esterase_SGNH_hydro-type - no_errors PCED1A HGNC ENSG00000132635 29 0 0.00 43 5 10.42 - - - PLCE1 0 genome.wustl.edu 37 10 96014009 96014009 + Missense_Mutation SNP G G T TCGA-A8-A08G-01A-11W-A019-09 TCGA-A8-A08G-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8da61928-e935-4a33-8e46-840e637163d7 74a3a4af-c93a-4fcd-af11-1f5eeb847c3c 10 96014009 96014009 G T SNP PLCE1 ENST00000371380 human ensembl 69_37n +1 known missense c.3342 p.E1114D 0.999 NULL pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,smart_Ras-assoc,pfscan_C2_membr_targeting,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C - no_errors PLCE1 HGNC ENSG00000138193 230 0 0.00 129 138 51.69 - - - POLR1C 0 genome.wustl.edu 37 6 43488439 43488439 + Silent SNP C C G TCGA-A8-A08G-01A-11W-A019-09 TCGA-A8-A08G-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8da61928-e935-4a33-8e46-840e637163d7 74a3a4af-c93a-4fcd-af11-1f5eeb847c3c 6 43488439 43488439 C G SNP POLR1C ENST00000372389 human ensembl 69_37n +1 known silent c.732 p.P244 0.130 pfam_DNA-dir_RNA_pol_dimersation,superfamily_DNA-dir_RNA_pol_RBP11-like,smart_DNA-dir_RNA_pol_RpoA/D/Rpb3 pfam_DNA-dir_RNA_pol_insert,pfam_DNA-dir_RNA_pol_dimersation,superfamily_DNA-dir_RNA_pol_RBP11-like,superfamily_DNA-dir_RNA_pol_insert,smart_DNA-dir_RNA_pol_RpoA/D/Rpb3 - no_errors POLR1C HGNC ENSG00000171453 92 0 0.00 101 31 23.48 - - - PRTG 0 genome.wustl.edu 37 15 55972757 55972757 + Missense_Mutation SNP T T A TCGA-A8-A08G-01A-11W-A019-09 TCGA-A8-A08G-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8da61928-e935-4a33-8e46-840e637163d7 74a3a4af-c93a-4fcd-af11-1f5eeb847c3c 15 55972757 55972757 T A SNP PRTG ENST00000389286 human ensembl 69_37n -1 known missense c.746 p.H249L 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors PRTG HGNC ENSG00000166450 344 0 0.00 241 102 29.74 - - - RBM24 0 genome.wustl.edu 37 6 17292294 17292294 + Missense_Mutation SNP G G A TCGA-A8-A08G-01A-11W-A019-09 TCGA-A8-A08G-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8da61928-e935-4a33-8e46-840e637163d7 74a3a4af-c93a-4fcd-af11-1f5eeb847c3c 6 17292294 17292294 G A SNP RBM24 ENST00000379052 human ensembl 69_37n +1 known missense c.655 p.A219T 0.933 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM24 HGNC ENSG00000112183 67 0 0.00 52 10 16.13 - - - RNF213 0 genome.wustl.edu 37 17 78320721 78320721 + Silent SNP G G A TCGA-A8-A08G-01A-11W-A019-09 TCGA-A8-A08G-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8da61928-e935-4a33-8e46-840e637163d7 74a3a4af-c93a-4fcd-af11-1f5eeb847c3c 17 78320721 78320721 G A SNP RNF213 ENST00000582970 human ensembl 69_37n +1 known silent c.8586 p.P2862 0.000 smart_AAA+_ATPase smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 24 0 0.00 18 5 20.83 - - - ROR2 0 genome.wustl.edu 37 9 94493291 94493292 + Frame_Shift_Ins INS - - C TCGA-A8-A08G-01A-11W-A019-09 TCGA-A8-A08G-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8da61928-e935-4a33-8e46-840e637163d7 74a3a4af-c93a-4fcd-af11-1f5eeb847c3c 9 94493291 94493292 - C INS ROR2 ENST00000375708 human ensembl 69_37n -1 known frame_shift_ins c.1084_1083 p.H361fs 1.000:0.825 pirsf_Tyr_kinase_rcpt_ROR,pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle pirsf_Tyr_kinase_rcpt_ROR,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Kringle,pfam_Frizzled_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Kringle-like,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Kringle,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Frizzled_dom,pfscan_Kringle,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors ROR2 HGNC ENSG00000169071 29 0 0.00 21 3 12.50 - - - RYR1 0 genome.wustl.edu 37 19 39008172 39008172 + Missense_Mutation SNP C C T TCGA-A8-A08G-01A-11W-A019-09 TCGA-A8-A08G-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8da61928-e935-4a33-8e46-840e637163d7 74a3a4af-c93a-4fcd-af11-1f5eeb847c3c 19 39008172 39008172 C T SNP RYR1 ENST00000359596 human ensembl 69_37n +1 known missense c.9859 p.R3287C 1.000 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 18 0 0.00 25 6 19.35 - - - SCARF1 0 genome.wustl.edu 37 17 1540304 1540305 + Frame_Shift_Ins INS - - C TCGA-A8-A08G-01A-11W-A019-09 TCGA-A8-A08G-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8da61928-e935-4a33-8e46-840e637163d7 74a3a4af-c93a-4fcd-af11-1f5eeb847c3c 17 1540304 1540305 - C INS SCARF1 ENST00000263071 human ensembl 69_37n -1 known frame_shift_ins c.1417_1416 p.T472fs 0.974:0.963 NULL pfam_EGF_laminin,superfamily_Growth_fac_rcpt,smart_EGF-like,pfscan_EG-like_dom - no_errors SCARF1 HGNC ENSG00000074660 27 0 0.00 16 2 11.11 - - - SEMG1 0 genome.wustl.edu 37 20 43837007 43837007 + Nonsense_Mutation SNP C C T TCGA-A8-A08G-01A-11W-A019-09 TCGA-A8-A08G-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8da61928-e935-4a33-8e46-840e637163d7 74a3a4af-c93a-4fcd-af11-1f5eeb847c3c 20 43837007 43837007 C T SNP SEMG1 ENST00000372781 human ensembl 69_37n +1 known nonsense c.1069 p.R357* 0.000 pfam_Semenogelin pfam_Semenogelin - no_errors SEMG1 HGNC ENSG00000124233 175 0 0.00 392 66 14.41 - - - SIGLEC10 0 genome.wustl.edu 37 19 51918504 51918504 + Nonsense_Mutation SNP C C A TCGA-A8-A08G-01A-11W-A019-09 TCGA-A8-A08G-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8da61928-e935-4a33-8e46-840e637163d7 74a3a4af-c93a-4fcd-af11-1f5eeb847c3c 19 51918504 51918504 C A SNP SIGLEC10 ENST00000339313 human ensembl 69_37n -1 known nonsense c.1261 p.G421* 0.937 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors SIGLEC10 HGNC ENSG00000142512 57 0 0.00 49 16 24.62 - - - SOX13 0 genome.wustl.edu 37 1 204086755 204086756 + Frame_Shift_Ins INS - - C TCGA-A8-A08G-01A-11W-A019-09 TCGA-A8-A08G-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8da61928-e935-4a33-8e46-840e637163d7 74a3a4af-c93a-4fcd-af11-1f5eeb847c3c 1 204086755 204086756 - C INS SOX13 ENST00000367204 human ensembl 69_37n +1 known frame_shift_ins c.695_696 p.S235fs 1.000:0.972 NULL pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors SOX13 HGNC ENSG00000143842 24 0 0.00 43 6 12.24 - - - SPECC1 0 genome.wustl.edu 37 17 20156817 20156817 + Splice_Site SNP G G A TCGA-A8-A08G-01A-11W-A019-09 TCGA-A8-A08G-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8da61928-e935-4a33-8e46-840e637163d7 74a3a4af-c93a-4fcd-af11-1f5eeb847c3c 17 20156817 20156817 G A SNP SPECC1 ENST00000261503 human ensembl 69_37n +1 known splice_site c.2599-1 e9-1 0.997 - - - no_errors SPECC1 HGNC ENSG00000128487 53 0 0.00 61 16 20.78 - - - SRRT 0 genome.wustl.edu 37 7 100482032 100482032 + Silent SNP C C T TCGA-A8-A08G-01A-11W-A019-09 TCGA-A8-A08G-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8da61928-e935-4a33-8e46-840e637163d7 74a3a4af-c93a-4fcd-af11-1f5eeb847c3c 7 100482032 100482032 C T SNP SRRT ENST00000388793 human ensembl 69_37n +1 known silent c.801 p.I267 1.000 NULL pfam_Arsenite-R_2,pfam_DUF3546 - no_errors SRRT HGNC ENSG00000087087 10 0 0.00 12 7 36.84 - - - WBP4 0 genome.wustl.edu 37 13 41656885 41656885 + Silent SNP A A G TCGA-A8-A08G-01A-11W-A019-09 TCGA-A8-A08G-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8da61928-e935-4a33-8e46-840e637163d7 74a3a4af-c93a-4fcd-af11-1f5eeb847c3c 13 41656885 41656885 A G SNP WBP4 ENST00000379487 human ensembl 69_37n +1 known silent c.966 p.V322 0.005 NULL pfam_WW_Rsp5_WWP,pfam_Znf_U1-C,superfamily_WW_Rsp5_WWP,smart_Znf_U1,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP,pfscan_Znf_C2H2_matrin - no_errors WBP4 HGNC ENSG00000120688 159 0 0.00 142 100 41.32 - - - ZDHHC17 0 genome.wustl.edu 37 12 77199202 77199202 + Missense_Mutation SNP C C T TCGA-A8-A08G-01A-11W-A019-09 TCGA-A8-A08G-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8da61928-e935-4a33-8e46-840e637163d7 74a3a4af-c93a-4fcd-af11-1f5eeb847c3c 12 77199202 77199202 C T SNP ZDHHC17 ENST00000552453 human ensembl 69_37n +1 known missense c.296 p.T99I 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region ZDHHC17 HGNC ENSG00000186908 40 0 0.00 33 7 17.50 - - - ZNF454 0 genome.wustl.edu 37 5 178392799 178392799 + Missense_Mutation SNP A A G TCGA-A8-A08G-01A-11W-A019-09 TCGA-A8-A08G-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8da61928-e935-4a33-8e46-840e637163d7 74a3a4af-c93a-4fcd-af11-1f5eeb847c3c 5 178392799 178392799 A G SNP ZNF454 ENST00000320129 human ensembl 69_37n +1 known missense c.1394 p.E465G 1.000 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 ZNF454 HGNC ENSG00000178187 231 0 0.00 385 90 18.95 - - - ZNF805 0 genome.wustl.edu 37 19 57764473 57764473 + Missense_Mutation SNP A A G TCGA-A8-A08G-01A-11W-A019-09 TCGA-A8-A08G-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8da61928-e935-4a33-8e46-840e637163d7 74a3a4af-c93a-4fcd-af11-1f5eeb847c3c 19 57764473 57764473 A G SNP ZNF805 ENST00000414468 human ensembl 69_37n +1 known missense c.286 p.T96A 0.000 NULL 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 ZNF805 HGNC ENSG00000204524 18 0 0.00 14 4 22.22 - - -