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 title header normal_ref_reads normal_var_reads normal_VAF tumor_ref_reads tumor_var_reads tumor_VAF ASH1L 0 genome.wustl.edu 37 1 155340643 155340643 + Missense_Mutation SNP C C T TCGA-D7-6817-01A-11D-1882-08 TCGA-D7-6817-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b618ff45-c20e-47a8-a770-07be77c6f205 72dc01b0-d290-4a43-9b9e-9a14db9c36df 1 155340643 155340643 C T SNP ASH1L ENST00000368346 human ensembl 74_37 -1 known missense c.6479 p.R2160K 1.000 pfam_SET_dom,smart_SET_dom,pfscan_SET_dom pfam_SET_dom,pfam_BAH_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_AT_hook_DNA-bd_motif,smart_AWS,smart_SET_dom,smart_Bromodomain,smart_Znf_PHD,smart_BAH_dom,pfscan_AWS,pfscan_BAH_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Bromodomain - no_errors ASH1L HGNC ENSG00000116539 157 0 0 117 23 16.4286 SLC25A34 0 genome.wustl.edu 37 1 16063002 16063002 + Missense_Mutation SNP G G T TCGA-D7-6817-01A-11D-1882-08 TCGA-D7-6817-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b618ff45-c20e-47a8-a770-07be77c6f205 72dc01b0-d290-4a43-9b9e-9a14db9c36df 1 16063002 16063002 G T SNP SLC25A34 ENST00000294454 human ensembl 74_37 +1 known missense c.22 p.V8L 0.995 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A34 HGNC ENSG00000162461 16 0 0 4 2 33.3333 HNRNPU 0 genome.wustl.edu 37 1 245022628 245022628 + Missense_Mutation SNP T T C TCGA-D7-6817-01A-11D-1882-08 TCGA-D7-6817-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b618ff45-c20e-47a8-a770-07be77c6f205 72dc01b0-d290-4a43-9b9e-9a14db9c36df 1 245022628 245022628 T C SNP HNRNPU ENST00000283179 human ensembl 74_37 -1 known missense c.1066 p.I356V 1.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_SAP_dom,pfam_Zeta_toxin_domain,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 HNRNPU HGNC ENSG00000153187 90 0 0 85 12 12.3711 OR14I1 0 genome.wustl.edu 37 1 248844940 248844940 + Silent SNP C C T TCGA-D7-6817-01A-11D-1882-08 TCGA-D7-6817-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b618ff45-c20e-47a8-a770-07be77c6f205 72dc01b0-d290-4a43-9b9e-9a14db9c36df 1 248844940 248844940 C T SNP OR14I1 ENST00000342623 human ensembl 74_37 -1 known silent c.666 p.T222 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Olfact_rcpt - no_errors OR14I1 HGNC ENSG00000189181 149 0 0 81 76 48.4076 SGIP1 0 genome.wustl.edu 37 1 67109391 67109391 + Missense_Mutation SNP C C A TCGA-D7-6817-01A-11D-1882-08 TCGA-D7-6817-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b618ff45-c20e-47a8-a770-07be77c6f205 72dc01b0-d290-4a43-9b9e-9a14db9c36df 1 67109391 67109391 C A SNP SGIP1 ENST00000237247 human ensembl 74_37 +1 known missense c.460 p.P154T 1.000 NULL pfam_Muniscin_C-term_mu_dom,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C - no_errors SGIP1 HGNC ENSG00000118473 178 0 0 143 23 13.8554 TCERG1L 0 genome.wustl.edu 37 10 133106478 133106478 + Missense_Mutation SNP G G C TCGA-D7-6817-01A-11D-1882-08 TCGA-D7-6817-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b618ff45-c20e-47a8-a770-07be77c6f205 72dc01b0-d290-4a43-9b9e-9a14db9c36df 10 133106478 133106478 G C SNP TCERG1L ENST00000368642 human ensembl 74_37 -1 known missense c.666 p.I222M 0.006 NULL pfam_FF_domain,pfam_WW_dom,superfamily_FF_domain,superfamily_WW_dom,smart_WW_dom,smart_FF_domain,pfscan_WW_dom - no_errors TCERG1L HGNC ENSG00000176769 33 0 0 18 3 14.2857 ZNF33B 0 genome.wustl.edu 37 10 43089832 43089832 + Missense_Mutation SNP T T C TCGA-D7-6817-01A-11D-1882-08 TCGA-D7-6817-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b618ff45-c20e-47a8-a770-07be77c6f205 72dc01b0-d290-4a43-9b9e-9a14db9c36df 10 43089832 43089832 T C SNP ZNF33B ENST00000359467 human ensembl 74_37 -1 known missense c.566 p.E189G 1.000 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 ZNF33B HGNC ENSG00000196693 153 0 0 73 33 31.1321 CEP55 0 genome.wustl.edu 37 10 95276832 95276832 + Missense_Mutation SNP A A G TCGA-D7-6817-01A-11D-1882-08 TCGA-D7-6817-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b618ff45-c20e-47a8-a770-07be77c6f205 72dc01b0-d290-4a43-9b9e-9a14db9c36df 10 95276832 95276832 A G SNP CEP55 ENST00000371485 human ensembl 74_37 +1 known missense c.820 p.K274E 0.999 NULL pfam_EABR - no_errors CEP55 HGNC ENSG00000138180 75 0 0 52 5 8.77193 PGR 0 genome.wustl.edu 37 11 100999722 100999722 + Missense_Mutation SNP A A G TCGA-D7-6817-01A-11D-1882-08 TCGA-D7-6817-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b618ff45-c20e-47a8-a770-07be77c6f205 72dc01b0-d290-4a43-9b9e-9a14db9c36df 11 100999722 100999722 A G SNP PGR ENST00000325455 human ensembl 74_37 -1 known missense c.80 p.L27P 0.000 pfam_Progest_rcpt pfam_Progest_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Progest_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt - no_errors PGR HGNC ENSG00000082175 19 0 0 21 7 25 COPB1 0 genome.wustl.edu 37 11 14504693 14504693 + Missense_Mutation SNP G G A TCGA-D7-6817-01A-11D-1882-08 TCGA-D7-6817-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b618ff45-c20e-47a8-a770-07be77c6f205 72dc01b0-d290-4a43-9b9e-9a14db9c36df 11 14504693 14504693 G A SNP COPB1 ENST00000249923 human ensembl 74_37 -1 known missense c.842 p.A281V 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_COPB1 pfam_Coatomer_bsu_C,pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_COPB1 - no_errors COPB1 HGNC ENSG00000129083 27 0 0 14 5 26.3158 MAPK8IP1 0 genome.wustl.edu 37 11 45924104 45924104 + Silent SNP G G A TCGA-D7-6817-01A-11D-1882-08 TCGA-D7-6817-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b618ff45-c20e-47a8-a770-07be77c6f205 72dc01b0-d290-4a43-9b9e-9a14db9c36df 11 45924104 45924104 G A SNP MAPK8IP1 ENST00000241014 human ensembl 74_37 +1 known silent c.786 p.S262 0.492 NULL pfam_PTB/PI_dom,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,smart_PTB/PI_dom,pfscan_PTB/PI_dom,pfscan_SH3_domain - no_errors MAPK8IP1 HGNC ENSG00000121653 37 0 0 28 4 12.5 OR9G1 0 genome.wustl.edu 37 11 56468183 56468183 + Missense_Mutation SNP C C A TCGA-D7-6817-01A-11D-1882-08 TCGA-D7-6817-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b618ff45-c20e-47a8-a770-07be77c6f205 72dc01b0-d290-4a43-9b9e-9a14db9c36df 11 56468183 56468183 C A SNP OR9G1 ENST00000312153 human ensembl 74_37 +1 known missense c.320 p.A107D 0.039 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR9G1 HGNC ENSG00000174914 238 0 0 216 29 11.8367 ANKRD13D 0 genome.wustl.edu 37 11 67068796 67068796 + Silent SNP C C T TCGA-D7-6817-01A-11D-1882-08 TCGA-D7-6817-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b618ff45-c20e-47a8-a770-07be77c6f205 72dc01b0-d290-4a43-9b9e-9a14db9c36df 11 67068796 67068796 C T SNP ANKRD13D ENST00000511455 human ensembl 74_37 +1 known silent c.1275 p.S425 1.000 pfam_ANKRD13 pfam_ANKRD13,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ubiquitin-int_motif,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Ubiquitin-int_motif - no_errors ANKRD13D HGNC ENSG00000172932 49 0 0 67 10 12.987 TENM4 0 genome.wustl.edu 37 11 78387401 78387401 + Silent SNP G G A TCGA-D7-6817-01A-11D-1882-08 TCGA-D7-6817-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b618ff45-c20e-47a8-a770-07be77c6f205 72dc01b0-d290-4a43-9b9e-9a14db9c36df 11 78387401 78387401 G A SNP TENM4 ENST00000278550 human ensembl 74_37 -1 known silent c.5292 p.A1764 0.001 NULL pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM4 HGNC ENSG00000149256 51 0 0 24 15 38.4615 FZD10 0 genome.wustl.edu 37 12 130648028 130648028 + Missense_Mutation SNP C C G TCGA-D7-6817-01A-11D-1882-08 TCGA-D7-6817-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b618ff45-c20e-47a8-a770-07be77c6f205 72dc01b0-d290-4a43-9b9e-9a14db9c36df 12 130648028 130648028 C G SNP FZD10 ENST00000229030 human ensembl 74_37 +1 known missense c.541 p.P181A 0.698 NULL pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD10 HGNC ENSG00000111432 37 0 0 47 21 30.8824 KRT8 0 genome.wustl.edu 37 12 53298699 53298699 + Missense_Mutation SNP G G A TCGA-D7-6817-01A-11D-1882-08 TCGA-D7-6817-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b618ff45-c20e-47a8-a770-07be77c6f205 72dc01b0-d290-4a43-9b9e-9a14db9c36df 12 53298699 53298699 G A SNP KRT8 ENST00000293308 human ensembl 74_37 -1 known missense c.67 p.R23C 1.000 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I - no_errors KRT8 HGNC ENSG00000170421 35 0 0 45 5 10 ANKRD52 0 genome.wustl.edu 37 12 56650822 56650822 + Missense_Mutation SNP G G A TCGA-D7-6817-01A-11D-1882-08 TCGA-D7-6817-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b618ff45-c20e-47a8-a770-07be77c6f205 72dc01b0-d290-4a43-9b9e-9a14db9c36df 12 56650822 56650822 G A SNP ANKRD52 ENST00000267116 human ensembl 74_37 -1 known missense c.238 p.R80C 1.000 pfam_Ankyrin_rpt,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,prints_Ankyrin_rpt - no_errors ANKRD52 HGNC ENSG00000139645 52 0 0 51 13 20.3125 MTUS2 0 genome.wustl.edu 37 13 29933476 29933476 + Missense_Mutation SNP C C T TCGA-D7-6817-01A-11D-1882-08 TCGA-D7-6817-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b618ff45-c20e-47a8-a770-07be77c6f205 72dc01b0-d290-4a43-9b9e-9a14db9c36df 13 29933476 29933476 C T SNP MTUS2 ENST00000431530 human ensembl 74_37 +1 known missense c.3013 p.R1005W 0.994 NULL NULL - no_errors MTUS2 HGNC ENSG00000132938 29 0 0 21 6 22.2222 FRY 0 genome.wustl.edu 37 13 32869526 32869526 + Missense_Mutation SNP C C T TCGA-D7-6817-01A-11D-1882-08 TCGA-D7-6817-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b618ff45-c20e-47a8-a770-07be77c6f205 72dc01b0-d290-4a43-9b9e-9a14db9c36df 13 32869526 32869526 C T SNP FRY ENST00000380250 human ensembl 74_37 +1 known missense c.8971 p.R2991C 1.000 NULL superfamily_ARM-type_fold - no_errors FRY HGNC ENSG00000073910 105 0 0 99 13 11.6071 ATP7B 0 genome.wustl.edu 37 13 52509058 52509058 + Missense_Mutation SNP C C T TCGA-D7-6817-01A-11D-1882-08 TCGA-D7-6817-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b618ff45-c20e-47a8-a770-07be77c6f205 72dc01b0-d290-4a43-9b9e-9a14db9c36df 13 52509058 52509058 C T SNP ATP7B ENST00000242839 human ensembl 74_37 -1 known missense c.4232 p.R1411Q 0.433 NULL pfam_HeavyMe-assoc_HMA,pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,prints_Cation_transp_P_typ_ATPase,tigrfam_Cation_transp_P-typ_ATPase_IB,tigrfam_Cation_transp_P_typ_ATPase,tigrfam_HMA_Cu_ion-bd - no_errors ATP7B HGNC ENSG00000123191 112 0 0 83 28 25.2252 LRRC16B 0 genome.wustl.edu 37 14 24538052 24538052 + Missense_Mutation SNP C C T TCGA-D7-6817-01A-11D-1882-08 TCGA-D7-6817-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b618ff45-c20e-47a8-a770-07be77c6f205 72dc01b0-d290-4a43-9b9e-9a14db9c36df 14 24538052 24538052 C T SNP LRRC16B ENST00000342740 human ensembl 74_37 +1 known missense c.3859 p.R1287C 0.984 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC16B HGNC ENSG00000186648 40 0 0 38 8 17.3913 PELI2 0 genome.wustl.edu 37 14 56757012 56757012 + Silent SNP C C T TCGA-D7-6817-01A-11D-1882-08 TCGA-D7-6817-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b618ff45-c20e-47a8-a770-07be77c6f205 72dc01b0-d290-4a43-9b9e-9a14db9c36df 14 56757012 56757012 C T SNP PELI2 ENST00000267460 human ensembl 74_37 +1 known silent c.534 p.P178 0.665 pfam_Pellino_fam pfam_Pellino_fam - no_errors PELI2 HGNC ENSG00000139946 146 0 0 117 21 15.2174 ESR2 0 genome.wustl.edu 37 14 64746715 64746715 + Missense_Mutation SNP A A T TCGA-D7-6817-01A-11D-1882-08 TCGA-D7-6817-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b618ff45-c20e-47a8-a770-07be77c6f205 72dc01b0-d290-4a43-9b9e-9a14db9c36df 14 64746715 64746715 A T SNP ESR2 ENST00000341099 human ensembl 74_37 -1 known missense c.519 p.F173L 1.000 pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Estrogen_rcpt_beta_N,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors ESR2 HGNC ENSG00000140009 373 0 0 260 62 19.2547 ESRRB 0 genome.wustl.edu 37 14 76905997 76905997 + Missense_Mutation SNP C C T TCGA-D7-6817-01A-11D-1882-08 TCGA-D7-6817-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b618ff45-c20e-47a8-a770-07be77c6f205 72dc01b0-d290-4a43-9b9e-9a14db9c36df 14 76905997 76905997 C T SNP ESRRB ENST00000380887 human ensembl 74_37 +1 known missense c.301 p.R101C 1.000 smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors ESRRB HGNC ENSG00000119715 51 0 0 40 11 21.5686 WASH3P 0 genome.wustl.edu 37 15 102515335 102515335 + RNA SNP C C G TCGA-D7-6817-01A-11D-1882-08 TCGA-D7-6817-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b618ff45-c20e-47a8-a770-07be77c6f205 72dc01b0-d290-4a43-9b9e-9a14db9c36df 15 102515335 102515335 C G SNP WASH3P ENST00000557932 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors WASH3P HGNC ENSG00000185596 16 0 0 24 5 17.2414 ADAMTS7 0 genome.wustl.edu 37 15 79082075 79082075 + Silent SNP C C A TCGA-D7-6817-01A-11D-1882-08 TCGA-D7-6817-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b618ff45-c20e-47a8-a770-07be77c6f205 72dc01b0-d290-4a43-9b9e-9a14db9c36df 15 79082075 79082075 C A SNP ADAMTS7 ENST00000388820 human ensembl 74_37 -1 known silent c.1134 p.T378 0.003 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS7 HGNC ENSG00000136378 30 0 0 31 2 6.06061 KIAA0430 0 genome.wustl.edu 37 16 15703512 15703512 + Silent SNP T T C TCGA-D7-6817-01A-11D-1882-08 TCGA-D7-6817-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b618ff45-c20e-47a8-a770-07be77c6f205 72dc01b0-d290-4a43-9b9e-9a14db9c36df 16 15703512 15703512 T C SNP KIAA0430 ENST00000396368 human ensembl 74_37 -1 known silent c.3822 p.Q1274 1.000 NULL pfam_Limkain_b1_cons_dom,pfam_NYN_limkain-b1,smart_RRM_dom,pfscan_RRM_dom - no_errors KIAA0430 HGNC ENSG00000166783 62 0 0 72 14 16.2791 CREBBP 0 genome.wustl.edu 37 16 3781410 3781410 + Missense_Mutation SNP G G C TCGA-D7-6817-01A-11D-1882-08 TCGA-D7-6817-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b618ff45-c20e-47a8-a770-07be77c6f205 72dc01b0-d290-4a43-9b9e-9a14db9c36df 16 3781410 3781410 G C SNP CREBBP ENST00000262367 human ensembl 74_37 -1 known missense c.4955 p.P1652R 1.000 NULL pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors CREBBP HGNC ENSG00000005339 24 0 0 21 2 8.69565 MYH8 0 genome.wustl.edu 37 17 10300235 10300235 + Missense_Mutation SNP G G A TCGA-D7-6817-01A-11D-1882-08 TCGA-D7-6817-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b618ff45-c20e-47a8-a770-07be77c6f205 72dc01b0-d290-4a43-9b9e-9a14db9c36df 17 10300235 10300235 G A SNP MYH8 ENST00000403437 human ensembl 74_37 -1 known missense c.4247 p.S1416F 1.000 pfam_Myosin_tail,superfamily_Prefoldin pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH8 HGNC ENSG00000133020 116 0 0 105 15 12.5 TBC1D3P5 0 genome.wustl.edu 37 17 25748832 25748832 + RNA SNP C C T TCGA-D7-6817-01A-11D-1882-08 TCGA-D7-6817-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b618ff45-c20e-47a8-a770-07be77c6f205 72dc01b0-d290-4a43-9b9e-9a14db9c36df 17 25748832 25748832 C T SNP TBC1D3P5 ENST00000586223 human ensembl 74_37 +1 known rna NULL NULL 0.006 - - - no_errors TBC1D3P5 HGNC ENSG00000266433 16 0 0 13 3 18.75 NOS2 0 genome.wustl.edu 37 17 26107840 26107840 + Silent SNP G G A TCGA-D7-6817-01A-11D-1882-08 TCGA-D7-6817-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b618ff45-c20e-47a8-a770-07be77c6f205 72dc01b0-d290-4a43-9b9e-9a14db9c36df 17 26107840 26107840 G A SNP NOS2 ENST00000313735 human ensembl 74_37 -1 known silent c.957 p.F319 0.225 pfam_NO_synthase_oxygenase_dom,superfamily_NO_synthase_oxygenase_dom,pirsf_NOS_euk pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_euk,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS2 HGNC ENSG00000007171 79 0 0 86 14 14 EVI2B 0 genome.wustl.edu 37 17 29631298 29631298 + Missense_Mutation SNP G G T TCGA-D7-6817-01A-11D-1882-08 TCGA-D7-6817-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b618ff45-c20e-47a8-a770-07be77c6f205 72dc01b0-d290-4a43-9b9e-9a14db9c36df 17 29631298 29631298 G T SNP EVI2B ENST00000544462 human ensembl 74_37 -1 known missense c.1375 p.P459T 1.000 NULL NULL - no_errors EVI2B HGNC ENSG00000185862 105 0 0 83 7 7.77778 KIF2B 0 genome.wustl.edu 37 17 51900738 51900738 + Missense_Mutation SNP G G C TCGA-D7-6817-01A-11D-1882-08 TCGA-D7-6817-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b618ff45-c20e-47a8-a770-07be77c6f205 72dc01b0-d290-4a43-9b9e-9a14db9c36df 17 51900738 51900738 G C SNP KIF2B ENST00000268919 human ensembl 74_37 +1 known missense c.344 p.W115S 0.087 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF2B HGNC ENSG00000141200 150 0 0 162 21 11.4754 MRC2 0 genome.wustl.edu 37 17 60742129 60742129 + Missense_Mutation SNP C C G TCGA-D7-6817-01A-11D-1882-08 TCGA-D7-6817-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b618ff45-c20e-47a8-a770-07be77c6f205 72dc01b0-d290-4a43-9b9e-9a14db9c36df 17 60742129 60742129 C G SNP MRC2 ENST00000303375 human ensembl 74_37 +1 known missense c.339 p.D113E 1.000 superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin pfam_C-type_lectin,pfam_FN_type2_col-bd,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin,prints_AntifreezeII - no_errors MRC2 HGNC ENSG00000011028 90 0 0 109 11 9.16667 SLC13A5 0 genome.wustl.edu 37 17 6607201 6607201 + Silent SNP C C A TCGA-D7-6817-01A-11D-1882-08 TCGA-D7-6817-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b618ff45-c20e-47a8-a770-07be77c6f205 72dc01b0-d290-4a43-9b9e-9a14db9c36df 17 6607201 6607201 C A SNP SLC13A5 ENST00000433363 human ensembl 74_37 -1 known silent c.543 p.L181 0.962 pfam_Na/sul_symport pfam_Na/sul_symport,pfam_Cit_transptr-like_dom - no_errors SLC13A5 HGNC ENSG00000141485 39 0 0 61 5 7.57576 TP53 0 genome.wustl.edu 37 17 7577120 7577120 + Missense_Mutation SNP C C T TCGA-D7-6817-01A-11D-1882-08 TCGA-D7-6817-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b618ff45-c20e-47a8-a770-07be77c6f205 72dc01b0-d290-4a43-9b9e-9a14db9c36df 17 7577120 7577120 C T SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.818 p.R273H 0.864 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 43 0 0 23 10 30.303 CANT1 0 genome.wustl.edu 37 17 76989937 76989937 + Missense_Mutation SNP G G A TCGA-D7-6817-01A-11D-1882-08 TCGA-D7-6817-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b618ff45-c20e-47a8-a770-07be77c6f205 72dc01b0-d290-4a43-9b9e-9a14db9c36df 17 76989937 76989937 G A SNP CANT1 ENST00000302345 human ensembl 74_37 -1 known missense c.901 p.R301C 1.000 pfam_Apyrase,superfamily_Apyrase pfam_Apyrase,superfamily_Apyrase - no_errors CANT1 HGNC ENSG00000171302 24 0 0 23 7 23.3333 TBXA2R 0 genome.wustl.edu 37 19 3600344 3600344 + Missense_Mutation SNP C C T TCGA-D7-6817-01A-11D-1882-08 TCGA-D7-6817-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b618ff45-c20e-47a8-a770-07be77c6f205 72dc01b0-d290-4a43-9b9e-9a14db9c36df 19 3600344 3600344 C T SNP TBXA2R ENST00000411851 human ensembl 74_37 -1 known missense c.289 p.A97T 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Thbox_rcpt,prints_Prostanoid_rcpt,prints_GPCR_Rhodpsn - no_errors TBXA2R HGNC ENSG00000006638 60 0 0 31 43 58.1081 GRIK5 0 genome.wustl.edu 37 19 42510819 42510819 + Missense_Mutation SNP C C T TCGA-D7-6817-01A-11D-1882-08 TCGA-D7-6817-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b618ff45-c20e-47a8-a770-07be77c6f205 72dc01b0-d290-4a43-9b9e-9a14db9c36df 19 42510819 42510819 C T SNP GRIK5 ENST00000301218 human ensembl 74_37 -1 known missense c.2015 p.G672D 1.000 pfam_Iontro_glu_rcpt,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,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK5 HGNC ENSG00000105737 44 0 0 22 14 38.8889 MUC16 0 genome.wustl.edu 37 19 9063102 9063102 + Missense_Mutation SNP G G T TCGA-D7-6817-01A-11D-1882-08 TCGA-D7-6817-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b618ff45-c20e-47a8-a770-07be77c6f205 72dc01b0-d290-4a43-9b9e-9a14db9c36df 19 9063102 9063102 G T SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.24344 p.P8115Q 0.002 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 180 1 0.552486 95 50 34.4828 GREB1 0 genome.wustl.edu 37 2 11727567 11727567 + Missense_Mutation SNP C C T TCGA-D7-6817-01A-11D-1882-08 TCGA-D7-6817-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b618ff45-c20e-47a8-a770-07be77c6f205 72dc01b0-d290-4a43-9b9e-9a14db9c36df 2 11727567 11727567 C T SNP GREB1 ENST00000263834 human ensembl 74_37 +1 known missense c.1219 p.R407W 0.000 NULL NULL - no_errors GREB1 HGNC ENSG00000196208 65 0 0 44 10 18.5185 LCT 0 genome.wustl.edu 37 2 136594316 136594316 + Missense_Mutation SNP G G A TCGA-D7-6817-01A-11D-1882-08 TCGA-D7-6817-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b618ff45-c20e-47a8-a770-07be77c6f205 72dc01b0-d290-4a43-9b9e-9a14db9c36df 2 136594316 136594316 G A SNP LCT ENST00000264162 human ensembl 74_37 -1 known missense c.424 p.R142W 0.020 pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 - no_errors LCT HGNC ENSG00000115850 61 0 0 54 16 22.8571 THSD7B 0 genome.wustl.edu 37 2 138030105 138030105 + Missense_Mutation SNP A A C TCGA-D7-6817-01A-11D-1882-08 TCGA-D7-6817-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b618ff45-c20e-47a8-a770-07be77c6f205 72dc01b0-d290-4a43-9b9e-9a14db9c36df 2 138030105 138030105 A C SNP THSD7B ENST00000272643 human ensembl 74_37 +1 known missense c.2269 p.N757H 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7B HGNC ENSG00000144229 39 0 0 30 3 9.09091 MBD5 0 genome.wustl.edu 37 2 149227248 149227248 + Nonsense_Mutation SNP T T G TCGA-D7-6817-01A-11D-1882-08 TCGA-D7-6817-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b618ff45-c20e-47a8-a770-07be77c6f205 72dc01b0-d290-4a43-9b9e-9a14db9c36df 2 149227248 149227248 T G SNP MBD5 ENST00000407073 human ensembl 74_37 +1 known nonsense c.1736 p.L579* 1.000 NULL superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd,pfscan_PWWP_dom - no_errors MBD5 HGNC ENSG00000204406 204 1 0.487805 151 27 15.1685 SCN1A 0 genome.wustl.edu 37 2 166848778 166848778 + Silent SNP C C T TCGA-D7-6817-01A-11D-1882-08 TCGA-D7-6817-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b618ff45-c20e-47a8-a770-07be77c6f205 72dc01b0-d290-4a43-9b9e-9a14db9c36df 2 166848778 166848778 C T SNP SCN1A ENST00000303395 human ensembl 74_37 -1 known silent c.5007 p.A1669 0.000 pfam_Ion_trans_dom,pfam_PKD1_2_channel pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_a1su,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN1A HGNC ENSG00000144285 171 0 0 147 33 18.3333 KLHL23 0 genome.wustl.edu 37 2 170591630 170591630 + Missense_Mutation SNP A A T TCGA-D7-6817-01A-11D-1882-08 TCGA-D7-6817-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b618ff45-c20e-47a8-a770-07be77c6f205 72dc01b0-d290-4a43-9b9e-9a14db9c36df 2 170591630 170591630 A T SNP KLHL23 ENST00000272797 human ensembl 74_37 +1 known missense c.106 p.T36S 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL23 HGNC ENSG00000213160 155 0 0 104 29 21.8045 WIPF1 0 genome.wustl.edu 37 2 175436475 175436475 + Missense_Mutation SNP C C T TCGA-D7-6817-01A-11D-1882-08 TCGA-D7-6817-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b618ff45-c20e-47a8-a770-07be77c6f205 72dc01b0-d290-4a43-9b9e-9a14db9c36df 2 175436475 175436475 C T SNP WIPF1 ENST00000272746 human ensembl 74_37 -1 known missense c.1058 p.R353H 0.972 NULL smart_WH2_dom,pfscan_WH2_dom - no_errors WIPF1 HGNC ENSG00000115935 176 0 0 130 34 20.7317 TTN 0 genome.wustl.edu 37 2 179433173 179433173 + Missense_Mutation SNP C C T TCGA-D7-6817-01A-11D-1882-08 TCGA-D7-6817-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b618ff45-c20e-47a8-a770-07be77c6f205 72dc01b0-d290-4a43-9b9e-9a14db9c36df 2 179433173 179433173 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.69982 p.G23328R 1.000 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,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,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 66 0 0 59 12 16.9014 HECW2 0 genome.wustl.edu 37 2 197298041 197298041 + Missense_Mutation SNP G G C TCGA-D7-6817-01A-11D-1882-08 TCGA-D7-6817-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b618ff45-c20e-47a8-a770-07be77c6f205 72dc01b0-d290-4a43-9b9e-9a14db9c36df 2 197298041 197298041 G C SNP HECW2 ENST00000260983 human ensembl 74_37 -1 known missense c.107 p.S36C 1.000 NULL pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_WW_dom,superfamily_C2_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom - no_errors HECW2 HGNC ENSG00000138411 100 0 0 84 24 22.2222 CRYGD 0 genome.wustl.edu 37 2 208988990 208988990 + Missense_Mutation SNP C C A TCGA-D7-6817-01A-11D-1882-08 TCGA-D7-6817-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b618ff45-c20e-47a8-a770-07be77c6f205 72dc01b0-d290-4a43-9b9e-9a14db9c36df 2 208988990 208988990 C A SNP CRYGD ENST00000264376 human ensembl 74_37 -1 known missense c.98 p.C33F 1.000 pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYGD HGNC ENSG00000118231 24 0 0 34 2 5.55556 PID1 0 genome.wustl.edu 37 2 229890556 229890556 + Missense_Mutation SNP C C G TCGA-D7-6817-01A-11D-1882-08 TCGA-D7-6817-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b618ff45-c20e-47a8-a770-07be77c6f205 72dc01b0-d290-4a43-9b9e-9a14db9c36df 2 229890556 229890556 C G SNP PID1 ENST00000354069 human ensembl 74_37 -1 known missense c.545 p.W182S 1.000 pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom - no_errors PID1 HGNC ENSG00000153823 147 0 0 136 21 13.3758 RASGRP3 0 genome.wustl.edu 37 2 33747139 33747139 + Silent SNP T T C TCGA-D7-6817-01A-11D-1882-08 TCGA-D7-6817-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b618ff45-c20e-47a8-a770-07be77c6f205 72dc01b0-d290-4a43-9b9e-9a14db9c36df 2 33747139 33747139 T C SNP RASGRP3 ENST00000402538 human ensembl 74_37 +1 known silent c.486 p.F162 1.000 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_EF_hand_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_EF_hand_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_DAG/PE-bd - no_errors RASGRP3 HGNC ENSG00000152689 256 1 0.389105 174 38 17.9245 LHCGR 0 genome.wustl.edu 37 2 48915510 48915510 + Missense_Mutation SNP G G C TCGA-D7-6817-01A-11D-1882-08 TCGA-D7-6817-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b618ff45-c20e-47a8-a770-07be77c6f205 72dc01b0-d290-4a43-9b9e-9a14db9c36df 2 48915510 48915510 G C SNP LHCGR ENST00000294954 human ensembl 74_37 -1 known missense c.1426 p.Q476E 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_LSH_rcpt,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn,prints_TSH_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors LHCGR HGNC ENSG00000138039 80 0 0 68 11 13.9241 ATOH8 0 genome.wustl.edu 37 2 85981419 85981419 + Missense_Mutation SNP G G C TCGA-D7-6817-01A-11D-1882-08 TCGA-D7-6817-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b618ff45-c20e-47a8-a770-07be77c6f205 72dc01b0-d290-4a43-9b9e-9a14db9c36df 2 85981419 85981419 G C SNP ATOH8 ENST00000306279 human ensembl 74_37 +1 known missense c.107 p.R36P 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors ATOH8 HGNC ENSG00000168874 74 0 0 47 12 20.339 KCNIP3 0 genome.wustl.edu 37 2 96047430 96047430 + Missense_Mutation SNP G G T TCGA-D7-6817-01A-11D-1882-08 TCGA-D7-6817-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b618ff45-c20e-47a8-a770-07be77c6f205 72dc01b0-d290-4a43-9b9e-9a14db9c36df 2 96047430 96047430 G T SNP KCNIP3 ENST00000295225 human ensembl 74_37 +1 known missense c.534 p.K178N 1.000 pfam_EF_hand_dom,pfam_SPARC/Testican_Ca-bd-dom,smart_EF_hand_dom,pfscan_EF_hand_dom pfam_EF_hand_dom,pfam_SPARC/Testican_Ca-bd-dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin - no_errors KCNIP3 HGNC ENSG00000115041 120 0 0 135 26 16.1491 NCOA6 0 genome.wustl.edu 37 20 33324511 33324511 + Missense_Mutation SNP G G A TCGA-D7-6817-01A-11D-1882-08 TCGA-D7-6817-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b618ff45-c20e-47a8-a770-07be77c6f205 72dc01b0-d290-4a43-9b9e-9a14db9c36df 20 33324511 33324511 G A SNP NCOA6 ENST00000359003 human ensembl 74_37 -1 known missense c.5945 p.A1982V 0.975 NULL NULL - no_errors NCOA6 HGNC ENSG00000198646 58 0 0 61 4 6.15385 JPH2 0 genome.wustl.edu 37 20 42744524 42744524 + Silent SNP C C T TCGA-D7-6817-01A-11D-1882-08 TCGA-D7-6817-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b618ff45-c20e-47a8-a770-07be77c6f205 72dc01b0-d290-4a43-9b9e-9a14db9c36df 20 42744524 42744524 C T SNP JPH2 ENST00000372980 human ensembl 74_37 -1 known silent c.1791 p.S597 0.028 pirsf_Junctophilin pfam_MORN,smart_MORN,pirsf_Junctophilin - no_errors JPH2 HGNC ENSG00000149596 19 0 0 73 5 6.41026 APCDD1L 0 genome.wustl.edu 37 20 57036311 57036311 + Silent SNP G G A TCGA-D7-6817-01A-11D-1882-08 TCGA-D7-6817-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b618ff45-c20e-47a8-a770-07be77c6f205 72dc01b0-d290-4a43-9b9e-9a14db9c36df 20 57036311 57036311 G A SNP APCDD1L ENST00000439429 human ensembl 74_37 -1 known silent c.1074 p.G358 0.013 NULL NULL - no_errors APCDD1L HGNC ENSG00000198768 55 0 0 59 14 19.1781 KCNQ2 0 genome.wustl.edu 37 20 62076114 62076114 + Silent SNP C C T TCGA-D7-6817-01A-11D-1882-08 TCGA-D7-6817-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b618ff45-c20e-47a8-a770-07be77c6f205 72dc01b0-d290-4a43-9b9e-9a14db9c36df 20 62076114 62076114 C T SNP KCNQ2 ENST00000354587 human ensembl 74_37 -1 known silent c.588 p.A196 0.982 pfam_Ion_trans_dom pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ2,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ2 HGNC ENSG00000075043 33 0 0 61 4 6.15385 RTEL1 0 genome.wustl.edu 37 20 62326251 62326251 + Silent SNP C C T TCGA-D7-6817-01A-11D-1882-08 TCGA-D7-6817-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b618ff45-c20e-47a8-a770-07be77c6f205 72dc01b0-d290-4a43-9b9e-9a14db9c36df 20 62326251 62326251 C T SNP RTEL1 ENST00000318100 human ensembl 74_37 +1 known silent c.3267 p.D1089 0.439 NULL pfam_DEAD_2,superfamily_P-loop_NTPase,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 - no_errors RTEL1 HGNC ENSG00000258366 126 0 0 195 16 7.58294 HSF2BP 0 genome.wustl.edu 37 21 44949700 44949700 + Silent SNP G G A TCGA-D7-6817-01A-11D-1882-08 TCGA-D7-6817-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b618ff45-c20e-47a8-a770-07be77c6f205 72dc01b0-d290-4a43-9b9e-9a14db9c36df 21 44949700 44949700 G A SNP HSF2BP ENST00000291560 human ensembl 74_37 -1 known silent c.939 p.N313 0.351 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HSF2BP HGNC ENSG00000160207 107 0 0 60 28 31.8182 GPR128 0 genome.wustl.edu 37 3 100348472 100348472 + Missense_Mutation SNP C C T TCGA-D7-6817-01A-11D-1882-08 TCGA-D7-6817-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b618ff45-c20e-47a8-a770-07be77c6f205 72dc01b0-d290-4a43-9b9e-9a14db9c36df 3 100348472 100348472 C T SNP GPR128 ENST00000273352 human ensembl 74_37 +1 known missense c.146 p.T49I 0.000 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR128 HGNC ENSG00000144820 71 0 0 35 21 37.5 GP9 0 genome.wustl.edu 37 3 128780696 128780696 + Silent SNP C C T TCGA-D7-6817-01A-11D-1882-08 TCGA-D7-6817-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b618ff45-c20e-47a8-a770-07be77c6f205 72dc01b0-d290-4a43-9b9e-9a14db9c36df 3 128780696 128780696 C T SNP GP9 ENST00000307395 human ensembl 74_37 +1 known silent c.114 p.C38 0.568 pfam_LRR-contain_N,smart_LRR-contain_N pfam_LRR-contain_N,smart_LRR-contain_N,smart_Cys-rich_flank_reg_C - no_errors GP9 HGNC ENSG00000169704 25 0 0 22 6 21.4286 NEK10 0 genome.wustl.edu 37 3 27326454 27326454 + Splice_Site SNP T T A TCGA-D7-6817-01A-11D-1882-08 TCGA-D7-6817-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b618ff45-c20e-47a8-a770-07be77c6f205 72dc01b0-d290-4a43-9b9e-9a14db9c36df 3 27326454 27326454 T A SNP NEK10 ENST00000341435 human ensembl 74_37 -1 known splice_site c.1790-2 e20-2 1.000 - - - no_errors NEK10 HGNC ENSG00000163491 42 0 0 30 4 11.7647 ARPP21 0 genome.wustl.edu 37 3 35778692 35778692 + Missense_Mutation SNP T T A TCGA-D7-6817-01A-11D-1882-08 TCGA-D7-6817-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b618ff45-c20e-47a8-a770-07be77c6f205 72dc01b0-d290-4a43-9b9e-9a14db9c36df 3 35778692 35778692 T A SNP ARPP21 ENST00000417925 human ensembl 74_37 +1 known missense c.1380 p.D460E 1.000 NULL pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd - no_errors ARPP21 HGNC ENSG00000172995 141 0 0 127 16 11.1888 BSN 0 genome.wustl.edu 37 3 49689341 49689341 + Silent SNP C C T TCGA-D7-6817-01A-11D-1882-08 TCGA-D7-6817-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b618ff45-c20e-47a8-a770-07be77c6f205 72dc01b0-d290-4a43-9b9e-9a14db9c36df 3 49689341 49689341 C T SNP BSN ENST00000296452 human ensembl 74_37 +1 known silent c.2352 p.D784 0.996 NULL pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD - no_errors BSN HGNC ENSG00000164061 42 0 0 31 6 16.2162 EXOSC9 0 genome.wustl.edu 37 4 122722979 122722979 + Missense_Mutation SNP C C G TCGA-D7-6817-01A-11D-1882-08 TCGA-D7-6817-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b618ff45-c20e-47a8-a770-07be77c6f205 72dc01b0-d290-4a43-9b9e-9a14db9c36df 4 122722979 122722979 C G SNP EXOSC9 ENST00000512454 human ensembl 74_37 +1 putative missense c.16 p.Q6E 0.999 superfamily_Ribosomal_S5_D2-typ_fold pfam_ExoRNase_PH_dom1,pfam_ExoRNase_PH_dom2,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ExoRNase_PH_dom2 - no_errors EXOSC9 HGNC ENSG00000123737 66 0 0 49 4 7.54717 SLIT2 0 genome.wustl.edu 37 4 20611744 20611744 + Missense_Mutation SNP G G C TCGA-D7-6817-01A-11D-1882-08 TCGA-D7-6817-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b618ff45-c20e-47a8-a770-07be77c6f205 72dc01b0-d290-4a43-9b9e-9a14db9c36df 4 20611744 20611744 G C SNP SLIT2 ENST00000504154 human ensembl 74_37 +1 known missense c.3801 p.L1267F 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_EG-like_dom,pfam_Laminin_G,pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT2 HGNC ENSG00000145147 85 0 0 53 10 15.873 HTT 0 genome.wustl.edu 37 4 3182315 3182315 + Missense_Mutation SNP A A C TCGA-D7-6817-01A-11D-1882-08 TCGA-D7-6817-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b618ff45-c20e-47a8-a770-07be77c6f205 72dc01b0-d290-4a43-9b9e-9a14db9c36df 4 3182315 3182315 A C SNP HTT ENST00000355072 human ensembl 74_37 +1 known missense c.4686 p.K1562N 0.999 NULL pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin - no_errors HTT HGNC ENSG00000197386 152 0 0 117 12 9.30233 CWH43 0 genome.wustl.edu 37 4 48994096 48994096 + Missense_Mutation SNP G G A TCGA-D7-6817-01A-11D-1882-08 TCGA-D7-6817-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b618ff45-c20e-47a8-a770-07be77c6f205 72dc01b0-d290-4a43-9b9e-9a14db9c36df 4 48994096 48994096 G A SNP CWH43 ENST00000226432 human ensembl 74_37 +1 known missense c.500 p.R167H 0.822 NULL superfamily_Endo/exonuclease/phosphatase - no_errors CWH43 HGNC ENSG00000109182 81 0 0 57 12 17.3913 PPAT 0 genome.wustl.edu 37 4 57261654 57261654 + Missense_Mutation SNP A A G TCGA-D7-6817-01A-11D-1882-08 TCGA-D7-6817-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b618ff45-c20e-47a8-a770-07be77c6f205 72dc01b0-d290-4a43-9b9e-9a14db9c36df 4 57261654 57261654 A G SNP PPAT ENST00000264220 human ensembl 74_37 -1 known missense c.1418 p.I473T 0.965 pirsf_Amd_phspho_trans pfam_GATase_dom,pfam_PRibTrfase_dom,pirsf_Amd_phspho_trans,tigrfam_Amd_phspho_trans - no_errors PPAT HGNC ENSG00000128059 67 0 0 53 9 14.5161 GPRIN3 0 genome.wustl.edu 37 4 90170079 90170079 + Missense_Mutation SNP G G C TCGA-D7-6817-01A-11D-1882-08 TCGA-D7-6817-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b618ff45-c20e-47a8-a770-07be77c6f205 72dc01b0-d290-4a43-9b9e-9a14db9c36df 4 90170079 90170079 G C SNP GPRIN3 ENST00000333209 human ensembl 74_37 -1 known missense c.1183 p.Q395E 0.388 NULL NULL - no_errors GPRIN3 HGNC ENSG00000185477 153 0 0 120 31 20.5298 KIAA0947 0 genome.wustl.edu 37 5 5462426 5462426 + Missense_Mutation SNP C C A TCGA-D7-6817-01A-11D-1882-08 TCGA-D7-6817-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b618ff45-c20e-47a8-a770-07be77c6f205 72dc01b0-d290-4a43-9b9e-9a14db9c36df 5 5462426 5462426 C A SNP KIAA0947 ENST00000296564 human ensembl 74_37 +1 known missense c.2979 p.D993E 0.000 NULL superfamily_Vitellinogen_superhlx - no_errors KIAA0947 HGNC ENSG00000164151 55 0 0 41 11 21.1538 EYA4 0 genome.wustl.edu 37 6 133783490 133783490 + Missense_Mutation SNP T T G TCGA-D7-6817-01A-11D-1882-08 TCGA-D7-6817-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b618ff45-c20e-47a8-a770-07be77c6f205 72dc01b0-d290-4a43-9b9e-9a14db9c36df 6 133783490 133783490 T G SNP EYA4 ENST00000355167 human ensembl 74_37 +1 known missense c.455 p.L152R 1.000 NULL pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA - no_errors EYA4 HGNC ENSG00000112319 174 0 0 174 19 9.84456 BCLAF1 0 genome.wustl.edu 37 6 136590668 136590668 + Missense_Mutation SNP C C T TCGA-D7-6817-01A-11D-1882-08 TCGA-D7-6817-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b618ff45-c20e-47a8-a770-07be77c6f205 72dc01b0-d290-4a43-9b9e-9a14db9c36df 6 136590668 136590668 C T SNP BCLAF1 ENST00000531224 human ensembl 74_37 -1 known missense c.2126 p.G709E 1.000 NULL NULL - no_errors BCLAF1 HGNC ENSG00000029363 135 0 0 115 10 8 THBS2 0 genome.wustl.edu 37 6 169632105 169632105 + Silent SNP G G A TCGA-D7-6817-01A-11D-1882-08 TCGA-D7-6817-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b618ff45-c20e-47a8-a770-07be77c6f205 72dc01b0-d290-4a43-9b9e-9a14db9c36df 6 169632105 169632105 G A SNP THBS2 ENST00000366787 human ensembl 74_37 -1 known silent c.2121 p.C707 1.000 NULL pfam_Thrombospondin_C,pfam_Thrombospondin_1_rpt,pfam_VWF_C,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Thrombospondin_1_rpt,smart_Laminin_G,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C - no_errors THBS2 HGNC ENSG00000186340 76 0 0 57 13 18.5714 HIST1H2BE 0 genome.wustl.edu 37 6 26184287 26184287 + Silent SNP G G C TCGA-D7-6817-01A-11D-1882-08 TCGA-D7-6817-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b618ff45-c20e-47a8-a770-07be77c6f205 72dc01b0-d290-4a43-9b9e-9a14db9c36df 6 26184287 26184287 G C SNP HIST1H2BE ENST00000356530 human ensembl 74_37 +1 known silent c.264 p.S88 1.000 pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST1H2BE HGNC ENSG00000197697 195 0 0 167 48 22.3256 ZKSCAN8 0 genome.wustl.edu 37 6 28120096 28120096 + Missense_Mutation SNP G G C TCGA-D7-6817-01A-11D-1882-08 TCGA-D7-6817-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b618ff45-c20e-47a8-a770-07be77c6f205 72dc01b0-d290-4a43-9b9e-9a14db9c36df 6 28120096 28120096 G C SNP ZKSCAN8 ENST00000330236 human ensembl 74_37 +1 known missense c.709 p.D237H 1.000 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZKSCAN8 HGNC ENSG00000198315 176 0 0 114 26 18.5714 DNAH8 0 genome.wustl.edu 37 6 38877309 38877309 + Missense_Mutation SNP C C G TCGA-D7-6817-01A-11D-1882-08 TCGA-D7-6817-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b618ff45-c20e-47a8-a770-07be77c6f205 72dc01b0-d290-4a43-9b9e-9a14db9c36df 6 38877309 38877309 C G SNP DNAH8 ENST00000359357 human ensembl 74_37 +1 known missense c.8878 p.R2960G 1.000 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH8 HGNC ENSG00000124721 128 0 0 108 15 12.1951 FHL5 0 genome.wustl.edu 37 6 97051544 97051544 + Missense_Mutation SNP A A C TCGA-D7-6817-01A-11D-1882-08 TCGA-D7-6817-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b618ff45-c20e-47a8-a770-07be77c6f205 72dc01b0-d290-4a43-9b9e-9a14db9c36df 6 97051544 97051544 A C SNP FHL5 ENST00000326771 human ensembl 74_37 +1 known missense c.55 p.K19Q 1.000 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors FHL5 HGNC ENSG00000112214 108 0 0 80 20 20 MIR490 0 genome.wustl.edu 37 7 136849031 136849031 + RNA SNP A A C TCGA-D7-6817-01A-11D-1882-08 TCGA-D7-6817-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b618ff45-c20e-47a8-a770-07be77c6f205 72dc01b0-d290-4a43-9b9e-9a14db9c36df 7 136849031 136849031 A C SNP MIR490 ENST00000425981 human ensembl 74_37 -1 known rna NULL NULL 0.993 - - - no_errors hsa-mir-490 miRBase ENSG00000234352 55 0 0 35 12 25.5319 EPDR1 0 genome.wustl.edu 37 7 37960772 37960772 + Silent SNP G G A TCGA-D7-6817-01A-11D-1882-08 TCGA-D7-6817-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b618ff45-c20e-47a8-a770-07be77c6f205 72dc01b0-d290-4a43-9b9e-9a14db9c36df 7 37960772 37960772 G A SNP EPDR1 ENST00000559325 human ensembl 74_37 +1 known silent c.591 p.R197 1.000 smart_Ependymin pfam_Ependymin,smart_Ependymin,prints_Ependymin - no_errors EPDR1 HGNC ENSG00000086289 35 0 0 32 3 8.57143 VSTM2A 0 genome.wustl.edu 37 7 54636728 54636728 + Missense_Mutation SNP C C A TCGA-D7-6817-01A-11D-1882-08 TCGA-D7-6817-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b618ff45-c20e-47a8-a770-07be77c6f205 72dc01b0-d290-4a43-9b9e-9a14db9c36df 7 54636728 54636728 C A SNP VSTM2A ENST00000407838 human ensembl 74_37 +1 known missense c.661 p.L221I 1.000 NULL pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors VSTM2A HGNC ENSG00000170419 23 0 0 27 2 6.89655 FBXL18 0 genome.wustl.edu 37 7 5541044 5541044 + Missense_Mutation SNP T T C TCGA-D7-6817-01A-11D-1882-08 TCGA-D7-6817-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b618ff45-c20e-47a8-a770-07be77c6f205 72dc01b0-d290-4a43-9b9e-9a14db9c36df 7 5541044 5541044 T C SNP FBXL18 ENST00000453700 human ensembl 74_37 -1 known missense c.856 p.M286V 1.000 NULL pfam_F-box_dom,superfamily_F-box_dom,pfscan_F-box_dom - no_errors FBXL18 HGNC ENSG00000155034 37 0 0 38 4 9.52381 PHTF2 0 genome.wustl.edu 37 7 77523312 77523312 + Splice_Site SNP T T G TCGA-D7-6817-01A-11D-1882-08 TCGA-D7-6817-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b618ff45-c20e-47a8-a770-07be77c6f205 72dc01b0-d290-4a43-9b9e-9a14db9c36df 7 77523312 77523312 T G SNP PHTF2 ENST00000248550 human ensembl 74_37 +1 known splice_site c.216+2 e4+2 1.000 - - - no_errors PHTF2 HGNC ENSG00000006576 92 0 0 79 26 24.7619 EIF3H 0 genome.wustl.edu 37 8 117671101 117671101 + Silent SNP A A G TCGA-D7-6817-01A-11D-1882-08 TCGA-D7-6817-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b618ff45-c20e-47a8-a770-07be77c6f205 72dc01b0-d290-4a43-9b9e-9a14db9c36df 8 117671101 117671101 A G SNP EIF3H ENST00000521861 human ensembl 74_37 -1 known silent c.408 p.S136 0.968 pfam_JAB_MPN_dom,smart_JAB_MPN_dom pfam_JAB_MPN_dom,smart_JAB_MPN_dom - no_errors EIF3H HGNC ENSG00000147677 134 0 0 132 20 13.1579 COL14A1 0 genome.wustl.edu 37 8 121256184 121256184 + Missense_Mutation SNP G G C TCGA-D7-6817-01A-11D-1882-08 TCGA-D7-6817-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b618ff45-c20e-47a8-a770-07be77c6f205 72dc01b0-d290-4a43-9b9e-9a14db9c36df 8 121256184 121256184 G C SNP COL14A1 ENST00000297848 human ensembl 74_37 +1 known missense c.2416 p.V806L 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_VWF_A,pfam_Fibronectin_type3,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL14A1 HGNC ENSG00000187955 338 0 0 335 59 14.9746 PREX2 0 genome.wustl.edu 37 8 68930132 68930132 + Missense_Mutation SNP G G T TCGA-D7-6817-01A-11D-1882-08 TCGA-D7-6817-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b618ff45-c20e-47a8-a770-07be77c6f205 72dc01b0-d290-4a43-9b9e-9a14db9c36df 8 68930132 68930132 G T SNP PREX2 ENST00000288368 human ensembl 74_37 +1 known missense c.193 p.V65L 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX2 HGNC ENSG00000046889 17 0 0 18 6 25 PREX2 0 genome.wustl.edu 37 8 68930133 68930133 + Missense_Mutation SNP T T A TCGA-D7-6817-01A-11D-1882-08 TCGA-D7-6817-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b618ff45-c20e-47a8-a770-07be77c6f205 72dc01b0-d290-4a43-9b9e-9a14db9c36df 8 68930133 68930133 T A SNP PREX2 ENST00000288368 human ensembl 74_37 +1 known missense c.194 p.V65E 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX2 HGNC ENSG00000046889 18 0 0 18 6 25 PREX2 0 genome.wustl.edu 37 8 68982086 68982086 + Missense_Mutation SNP G G T TCGA-D7-6817-01A-11D-1882-08 TCGA-D7-6817-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b618ff45-c20e-47a8-a770-07be77c6f205 72dc01b0-d290-4a43-9b9e-9a14db9c36df 8 68982086 68982086 G T SNP PREX2 ENST00000288368 human ensembl 74_37 +1 known missense c.1460 p.C487F 1.000 NULL pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX2 HGNC ENSG00000046889 202 0 0 147 9 5.76923 ZFHX4 0 genome.wustl.edu 37 8 77690640 77690640 + Missense_Mutation SNP T T A TCGA-D7-6817-01A-11D-1882-08 TCGA-D7-6817-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b618ff45-c20e-47a8-a770-07be77c6f205 72dc01b0-d290-4a43-9b9e-9a14db9c36df 8 77690640 77690640 T A SNP ZFHX4 ENST00000521891 human ensembl 74_37 +1 known missense c.3290 p.I1097N 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 216 1 0.460829 240 26 9.77444 SLC26A7 0 genome.wustl.edu 37 8 92355626 92355626 + Missense_Mutation SNP T T G TCGA-D7-6817-01A-11D-1882-08 TCGA-D7-6817-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b618ff45-c20e-47a8-a770-07be77c6f205 72dc01b0-d290-4a43-9b9e-9a14db9c36df 8 92355626 92355626 T G SNP SLC26A7 ENST00000309536 human ensembl 74_37 +1 known missense c.1072 p.F358V 1.000 pfam_Sulph_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom - no_errors SLC26A7 HGNC ENSG00000147606 47 0 0 36 5 12.1951 PAPPA 0 genome.wustl.edu 37 9 118974146 118974146 + Missense_Mutation SNP G G T TCGA-D7-6817-01A-11D-1882-08 TCGA-D7-6817-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b618ff45-c20e-47a8-a770-07be77c6f205 72dc01b0-d290-4a43-9b9e-9a14db9c36df 9 118974146 118974146 G T SNP PAPPA ENST00000328252 human ensembl 74_37 +1 known missense c.1853 p.G618V 1.000 pfam_Peptidase_M43 pfam_Sushi_SCR_CCP,pfam_Notch_dom,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA HGNC ENSG00000182752 397 0 0 246 65 20.9003 TLE4 0 genome.wustl.edu 37 9 82335006 82335006 + Missense_Mutation SNP C C T TCGA-D7-6817-01A-11D-1882-08 TCGA-D7-6817-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b618ff45-c20e-47a8-a770-07be77c6f205 72dc01b0-d290-4a43-9b9e-9a14db9c36df 9 82335006 82335006 C T SNP TLE4 ENST00000376520 human ensembl 74_37 +1 known missense c.1732 p.R578C 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance - no_errors TLE4 HGNC ENSG00000106829 83 0 0 45 31 40.7895 DCAF12L2 0 genome.wustl.edu 37 X 125299536 125299536 + Silent SNP G G A TCGA-D7-6817-01A-11D-1882-08 TCGA-D7-6817-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b618ff45-c20e-47a8-a770-07be77c6f205 72dc01b0-d290-4a43-9b9e-9a14db9c36df X 125299536 125299536 G A SNP DCAF12L2 ENST00000360028 human ensembl 74_37 -1 known silent c.372 p.D124 0.978 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF12L2 HGNC ENSG00000198354 69 0 0 25 53 67.9487 CDR1 0 genome.wustl.edu 37 X 139865927 139865927 + Missense_Mutation SNP C C T TCGA-D7-6817-01A-11D-1882-08 TCGA-D7-6817-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b618ff45-c20e-47a8-a770-07be77c6f205 72dc01b0-d290-4a43-9b9e-9a14db9c36df X 139865927 139865927 C T SNP CDR1 ENST00000370532 human ensembl 74_37 -1 known missense c.605 p.G202D 0.000 NULL NULL - no_errors CDR1 HGNC ENSG00000184258 140 0 0 68 37 35.2381 MAGEB1 0 genome.wustl.edu 37 X 30269232 30269232 + Missense_Mutation SNP A A G TCGA-D7-6817-01A-11D-1882-08 TCGA-D7-6817-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b618ff45-c20e-47a8-a770-07be77c6f205 72dc01b0-d290-4a43-9b9e-9a14db9c36df X 30269232 30269232 A G SNP MAGEB1 ENST00000378981 human ensembl 74_37 +1 known missense c.622 p.I208V 0.205 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB1 HGNC ENSG00000214107 25 0 0 7 14 66.6667 SHOX 0 genome.wustl.edu 37 X 591691 591691 + Missense_Mutation SNP A A G TCGA-D7-6817-01A-11D-1882-08 TCGA-D7-6817-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b618ff45-c20e-47a8-a770-07be77c6f205 72dc01b0-d290-4a43-9b9e-9a14db9c36df X 591691 591691 A G SNP SHOX ENST00000381578 human ensembl 74_37 +1 known missense c.59 p.N20S 0.844 NULL pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_OAR_dom,pfscan_Homeobox_dom,prints_HTH_motif - no_errors SHOX HGNC ENSG00000185960 354 0 0 359 43 10.6965 CYLC1 0 genome.wustl.edu 37 X 83128313 83128313 + Missense_Mutation SNP T T A TCGA-D7-6817-01A-11D-1882-08 TCGA-D7-6817-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b618ff45-c20e-47a8-a770-07be77c6f205 72dc01b0-d290-4a43-9b9e-9a14db9c36df X 83128313 83128313 T A SNP CYLC1 ENST00000329312 human ensembl 74_37 +1 known missense c.597 p.D199E 0.000 NULL NULL - no_errors CYLC1 HGNC ENSG00000183035 32 0 0 28 5 15.1515 CHD3 0 genome.wustl.edu 37 17 7801856 7801857 + In_Frame_Ins INS - - AAG TCGA-D7-6817-01A-11D-1882-08 TCGA-D7-6817-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b618ff45-c20e-47a8-a770-07be77c6f205 72dc01b0-d290-4a43-9b9e-9a14db9c36df 17 7801856 7801857 - AAG INS CHD3 ENST00000330494 human ensembl 74_37 +1 known in_frame_ins c.2094_2095 p.702in_frame_insK 0.996:1.000 superfamily_P-loop_NTPase pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD3 HGNC ENSG00000170004 61 0 0 67 8 10.6667