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 ABCA12 0 genome.wustl.edu 37 2 215866355 215866355 + Silent SNP A A G TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 2 215866355 215866355 A G SNP ABCA12 ENST00000272895 human ensembl 74_37 -1 known silent c.2790 p.I930 1.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA12 HGNC ENSG00000144452 tier1 - - 82 0 0.00 102 38 27.14 ABCA12 0 genome.wustl.edu 37 2 215890500 215890500 + Frame_Shift_Del DEL T T - TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 2 215890500 215890500 T - DEL ABCA12 ENST00000272895 human ensembl 74_37 -1 known frame_shift_del c.1184 p.N395fs 1.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA12 HGNC ENSG00000144452 tier1 50 0 0.00 51 11 17.74 ABCA6 0 genome.wustl.edu 37 17 67097074 67097074 + Missense_Mutation SNP T T C TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 17 67097074 67097074 T C SNP ABCA6 ENST00000284425 human ensembl 74_37 -1 known missense c.2876 p.D959G 0.999 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA6 HGNC ENSG00000154262 tier1 - - 19 0 0.00 22 8 25.81 ABCC1 0 genome.wustl.edu 37 16 16162026 16162026 + Missense_Mutation SNP C C T TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 16 16162026 16162026 C T SNP ABCC1 ENST00000399408 human ensembl 74_37 +1 known missense c.1691 p.T564I 0.995 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc - no_errors ABCC1 HGNC ENSG00000103222 tier1 - - 84 0 0.00 112 9 7.44 ABCC2 0 genome.wustl.edu 37 10 101553428 101553428 + Missense_Mutation SNP C C T TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 10 101553428 101553428 C T SNP ABCC2 ENST00000370449 human ensembl 74_37 +1 known missense c.454 p.R152W 1.000 tigrfam_Multidrug-R_assoc pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc - no_errors ABCC2 HGNC ENSG00000023839 tier1 rs146452937 - 50 0 0.00 58 5 7.94 ACSBG1 0 genome.wustl.edu 37 15 78474909 78474909 + Missense_Mutation SNP C C A TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 15 78474909 78474909 C A SNP ACSBG1 ENST00000258873 human ensembl 74_37 -1 known missense c.793 p.D265Y 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSBG1 HGNC ENSG00000103740 tier1 - - 44 0 0.00 22 13 37.14 ACTBP12 0 genome.wustl.edu 37 1 92694815 92694815 + RNA SNP C C T TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 1 92694815 92694815 C T SNP ACTBP12 ENST00000594933 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors ACTBP12 HGNC ENSG00000233125 tier1 - - 110 0 0.00 48 67 58.26 ADAM20 0 genome.wustl.edu 37 14 70990815 70990816 + Frame_Shift_Ins INS - - T TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 14 70990815 70990816 - T INS ADAM20 ENST00000256389 human ensembl 74_37 -1 known frame_shift_ins c.810_809 p.Y270fs 0.000:0.000 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM20 HGNC ENSG00000134007 tier1 13 0 0.00 15 4 21.05 ADAMTS12 0 genome.wustl.edu 37 5 33614421 33614421 + Missense_Mutation SNP G G T TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 5 33614421 33614421 G T SNP ADAMTS12 ENST00000504830 human ensembl 74_37 -1 known missense c.2449 p.L817I 0.689 NULL pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS12 HGNC ENSG00000151388 tier1 - - 50 0 0.00 26 16 38.10 ADAMTS16 0 genome.wustl.edu 37 5 5239960 5239960 + Silent SNP T T C TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 5 5239960 5239960 T C SNP ADAMTS16 ENST00000274181 human ensembl 74_37 +1 known silent c.2445 p.T815 0.032 pfam_ADAM_spacer1 pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS16 HGNC ENSG00000145536 tier1 - - 29 0 0.00 12 10 45.45 ADAMTS19 0 genome.wustl.edu 37 5 129039996 129039996 + Missense_Mutation SNP A A C TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 5 129039996 129039996 A C SNP ADAMTS19 ENST00000274487 human ensembl 74_37 +1 known missense c.3206 p.K1069T 0.997 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_PLAC,pfam_Pept_M10_metallopeptidase,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS19 HGNC ENSG00000145808 tier1 - - 48 0 0.00 33 16 32.65 ADAMTS2 0 genome.wustl.edu 37 5 178552066 178552066 + Missense_Mutation SNP C C T TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 5 178552066 178552066 C T SNP ADAMTS2 ENST00000251582 human ensembl 74_37 -1 known missense c.2866 p.A956T 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,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_Pept_M12B_ADAM-TS2,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS2 HGNC ENSG00000087116 tier1 - - 64 0 0.00 25 10 28.57 ADCY4 0 genome.wustl.edu 37 14 24788372 24788372 + Missense_Mutation SNP G G A TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 14 24788372 24788372 G A SNP ADCY4 ENST00000310677 human ensembl 74_37 -1 known missense c.2888 p.A963V 1.000 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY4 HGNC ENSG00000129467 25 0 0.00 31 2 6.06 ADRA1D 0 genome.wustl.edu 37 20 4202559 4202559 + Missense_Mutation SNP C C T TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 20 4202559 4202559 C T SNP ADRA1D ENST00000379453 human ensembl 74_37 -1 known missense c.1330 p.G444S 0.396 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_ADRA1D_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam,pfscan_GPCR_Rhodpsn_7TM - no_errors ADRA1D HGNC ENSG00000171873 tier1 - - 17 0 0.00 12 10 45.45 AGTR2 0 genome.wustl.edu 37 X 115303887 115303887 + Missense_Mutation SNP A A C TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 X 115303887 115303887 A C SNP AGTR2 ENST00000371906 human ensembl 74_37 +1 known missense c.354 p.K118N 0.988 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_ATII_AT2_rcpt,prints_GPCR_Rhodpsn,prints_ATII_rcpt,prints_Brdyknn_rcpt,prints_Chemokine_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors AGTR2 HGNC ENSG00000180772 tier1 - - 22 0 0.00 30 13 30.23 AHDC1 0 genome.wustl.edu 37 1 27878147 27878147 + Silent SNP G G A TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 1 27878147 27878147 G A SNP AHDC1 ENST00000247087 human ensembl 74_37 -1 known silent c.480 p.P160 0.224 NULL NULL - no_errors AHDC1 HGNC ENSG00000126705 23 0 0.00 19 4 16.67 AKNA 0 genome.wustl.edu 37 9 117108226 117108226 + Missense_Mutation SNP C C T TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 9 117108226 117108226 C T SNP AKNA ENST00000307564 human ensembl 74_37 -1 known missense c.3578 p.S1193N 0.000 NULL pfam_TF_AT-hook - no_errors AKNA HGNC ENSG00000106948 tier1 - - 36 0 0.00 34 4 10.53 ALDH18A1 0 genome.wustl.edu 37 10 97380872 97380872 + Silent SNP G G T TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 10 97380872 97380872 G T SNP ALDH18A1 ENST00000371224 human ensembl 74_37 -1 known silent c.1383 p.A461 1.000 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,pirsf_P5_carboxy_syn,tigrfam_P5_carboxy_syn,tigrfam_G-glutamylP_reductase pfam_Asp/Glu/Uridylate_kinase,pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,superfamily_Asp/Glu/Uridylate_kinase,pirsf_P5_carboxy_syn,prints_Glu/AcGlu_kinase,tigrfam_P5_carboxy_syn,tigrfam_G-glutamylP_reductase - no_errors ALDH18A1 HGNC ENSG00000059573 56 0 0.00 50 4 7.41 ALDH3A1 0 genome.wustl.edu 37 17 19644521 19644521 + Missense_Mutation SNP C C T TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 17 19644521 19644521 C T SNP ALDH3A1 ENST00000225740 human ensembl 74_37 -1 known missense c.692 p.R231H 1.000 pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH_NAD(P) pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH_NAD(P) - no_errors ALDH3A1 HGNC ENSG00000108602 33 0 0.00 33 3 8.33 ANKK1 0 genome.wustl.edu 37 11 113264253 113264253 + Missense_Mutation SNP A A C TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 11 113264253 113264253 A C SNP ANKK1 ENST00000303941 human ensembl 74_37 +1 known missense c.236 p.K79T 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom - no_errors ANKK1 HGNC ENSG00000170209 tier1 - - 78 0 0.00 55 9 14.06 ANO3 0 genome.wustl.edu 37 11 26563506 26563506 + Missense_Mutation SNP A A C TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 11 26563506 26563506 A C SNP ANO3 ENST00000256737 human ensembl 74_37 +1 known missense c.1045 p.S349R 1.000 NULL pfam_Anoctamin - no_errors ANO3 HGNC ENSG00000134343 tier1 - - 25 0 0.00 29 4 12.12 APC 0 genome.wustl.edu 37 5 112175663 112175663 + Missense_Mutation SNP C C T TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 5 112175663 112175663 C T SNP APC ENST00000257430 human ensembl 74_37 +1 known missense c.4372 p.P1458S 0.182 NULL pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors APC HGNC ENSG00000134982 16 0 0.00 18 2 10.00 APOB 0 genome.wustl.edu 37 2 21233221 21233221 + Missense_Mutation SNP T T G TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 2 21233221 21233221 T G SNP APOB ENST00000233242 human ensembl 74_37 -1 known missense c.6519 p.Q2173H 0.268 NULL pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 tier1 - - 26 0 0.00 39 16 29.09 ARAP2 0 genome.wustl.edu 37 4 36130200 36130202 + In_Frame_Del DEL CAT CAT - TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 CAT CAT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 4 36130200 36130202 CAT - DEL ARAP2 ENST00000303965 human ensembl 74_37 -1 known in_frame_del c.3595_3593 p.D1198in_frame_del 1.000:1.000:1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_SAM_2,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP - no_errors ARAP2 HGNC ENSG00000047365 tier1 35 0 0.00 35 8 18.60 ARL13B 0 genome.wustl.edu 37 3 93699148 93699148 + RNA SNP T T G TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 3 93699148 93699148 T G SNP ARL13B ENST00000486562 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ARL13B HGNC ENSG00000169379 tier1 - - 42 0 0.00 20 28 58.33 ASB10 0 genome.wustl.edu 37 7 150884266 150884267 + Frame_Shift_Ins INS - - AG TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 7 150884266 150884267 - AG INS ASB10 ENST00000422024 human ensembl 74_37 -1 known frame_shift_ins c.87_86 p.P30fs 0.000:0.003 NULL pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt - no_errors ASB10 HGNC ENSG00000146926 tier1 9 0 0.00 17 12 41.38 ASB7 0 genome.wustl.edu 37 15 101169730 101169730 + Missense_Mutation SNP G G A TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 15 101169730 101169730 G A SNP ASB7 ENST00000332783 human ensembl 74_37 +1 known missense c.300 p.M100I 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt - no_errors ASB7 HGNC ENSG00000183475 25 0 0.00 18 6 25.00 ATP1A2 0 genome.wustl.edu 37 1 160099104 160099104 + Missense_Mutation SNP G G C TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 1 160099104 160099104 G C SNP ATP1A2 ENST00000361216 human ensembl 74_37 +1 known missense c.1375 p.E459Q 1.000 pfam_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Na/K_IIC 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_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP1A2 HGNC ENSG00000018625 22 0 0.00 56 3 5.00 BCL9L 0 genome.wustl.edu 37 11 118772171 118772171 + Missense_Mutation SNP C C A TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 11 118772171 118772171 C A SNP BCL9L ENST00000334801 human ensembl 74_37 -1 known missense c.2281 p.V761L 1.000 NULL pfam_BCL9_beta-catenin-bd_dom - no_errors BCL9L HGNC ENSG00000186174 tier1 - - 70 0 0.00 70 6 7.89 BICC1 0 genome.wustl.edu 37 10 60573843 60573843 + Missense_Mutation SNP A A G TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 10 60573843 60573843 A G SNP BICC1 ENST00000263103 human ensembl 74_37 +1 known missense c.1508 p.K503R 0.004 NULL NULL - no_errors BICC1 HGNC ENSG00000122870 tier1 - - 59 0 0.00 45 24 34.78 BNC1 0 genome.wustl.edu 37 15 83935797 83935798 + Frame_Shift_Ins INS - - G TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 15 83935797 83935798 - G INS BNC1 ENST00000345382 human ensembl 74_37 -1 known frame_shift_ins c.226_225 p.M75fs 0.001:0.001 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BNC1 HGNC ENSG00000169594 tier1 40 0 0.00 24 12 33.33 BRINP3 0 genome.wustl.edu 37 1 190250831 190250831 + Missense_Mutation SNP A A G TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 1 190250831 190250831 A G SNP BRINP3 ENST00000367462 human ensembl 74_37 -1 known missense c.286 p.F96L 1.000 pfam_MACPF,smart_MACPF pfam_MACPF,smart_MACPF - no_errors BRINP3 HGNC ENSG00000162670 tier1 - - 21 0 0.00 28 13 31.71 C1QTNF9-AS1 0 genome.wustl.edu 37 13 24890109 24890109 + RNA SNP C C A TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 13 24890109 24890109 C A SNP C1QTNF9-AS1 ENST00000449656 human ensembl 74_37 -1 known rna NULL NULL 0.322 - - - no_errors C1QTNF9-AS1 HGNC ENSG00000240868 tier1 - - 49 0 0.00 32 11 25.58 C5AR1 0 genome.wustl.edu 37 19 47823632 47823632 + Nonsense_Mutation SNP C C T TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 19 47823632 47823632 C T SNP C5AR1 ENST00000355085 human ensembl 74_37 +1 known nonsense c.598 p.R200* 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Anaphtx_C5AR1/C5AR2,prints_GPCR_Rhodpsn,prints_Anphylx_rcpt,prints_Brdyknn_rcpt,prints_Formyl_pep_rcpt - no_errors C5AR1 HGNC ENSG00000197405 tier1 - - 83 0 0.00 71 23 24.21 C9orf78 0 genome.wustl.edu 37 9 132596000 132596001 + RNA INS - - A TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 9 132596000 132596001 - A INS C9orf78 ENST00000461762 human ensembl 74_37 -1 known rna NULL NULL 0.062:0.115 - - - no_errors C9orf78 HGNC ENSG00000136819 tier1 21 0 0.00 19 5 20.83 CACNA1D 0 genome.wustl.edu 37 3 53809943 53809943 + Missense_Mutation SNP C C G TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 3 53809943 53809943 C G SNP CACNA1D ENST00000288139 human ensembl 74_37 +1 known missense c.4293 p.I1431M 1.000 pfam_Ion_trans_dom,pfam_PKD1_2_channel pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_LVDCC_a1dsu - no_errors CACNA1D HGNC ENSG00000157388 tier1 - - 56 0 0.00 29 24 45.28 CC2D2B 0 genome.wustl.edu 37 10 97728514 97728514 + Missense_Mutation SNP G G T TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 10 97728514 97728514 G T SNP CC2D2B ENST00000472454 human ensembl 74_37 +1 novel missense c.492 p.K164N 1.000 NULL NULL - no_errors RP11-248J23.6 Clone_based_vega_gene ENSG00000269948 tier1 - - 30 0 0.00 28 4 12.50 CCDC54 0 genome.wustl.edu 37 3 107096766 107096766 + Missense_Mutation SNP G G A TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 3 107096766 107096766 G A SNP CCDC54 ENST00000261058 human ensembl 74_37 +1 known missense c.332 p.R111K 0.377 NULL NULL - no_errors CCDC54 HGNC ENSG00000138483 tier1 - - 22 0 0.00 36 8 18.18 CDC123 0 genome.wustl.edu 37 10 12257743 12257743 + Missense_Mutation SNP C C G TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 10 12257743 12257743 C G SNP CDC123 ENST00000281141 human ensembl 74_37 +1 known missense c.242 p.P81R 1.000 pfam_D123,pirsf_Cell_div_Cdc123 pfam_D123,pirsf_Cell_div_Cdc123 - no_errors CDC123 HGNC ENSG00000151465 32 0 0.00 22 8 26.67 CDH19 0 genome.wustl.edu 37 18 64172528 64172528 + Missense_Mutation SNP A A C TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 18 64172528 64172528 A C SNP CDH19 ENST00000262150 human ensembl 74_37 -1 known missense c.1840 p.L614V 0.104 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH19 HGNC ENSG00000071991 tier1 - - 18 0 0.00 5 16 76.19 CDH26 0 genome.wustl.edu 37 20 58587737 58587737 + Silent SNP A A G TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 20 58587737 58587737 A G SNP CDH26 ENST00000348616 human ensembl 74_37 +1 known silent c.2451 p.K817 0.000 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH26 HGNC ENSG00000124215 tier1 - - 44 0 0.00 64 6 8.57 CDSN 0 genome.wustl.edu 37 6 31084612 31084612 + Silent SNP G G A TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 6 31084612 31084612 G A SNP CDSN ENST00000376288 human ensembl 74_37 -1 known silent c.780 p.H260 0.969 NULL NULL - no_errors CDSN HGNC ENSG00000204539 tier1 - - 33 0 0.00 27 30 52.63 CEP164P1 0 genome.wustl.edu 37 10 45566288 45566288 + RNA SNP T T C TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 10 45566288 45566288 T C SNP CEP164P1 ENST00000598522 human ensembl 74_37 -1 known rna NULL NULL 0.969 - - - no_errors CEP164P1 HGNC ENSG00000226937 tier1 - - 20 0 0.00 17 5 22.73 CEP350 0 genome.wustl.edu 37 1 179966116 179966116 + Missense_Mutation SNP G G A TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 1 179966116 179966116 G A SNP CEP350 ENST00000367607 human ensembl 74_37 +1 known missense c.824 p.R275Q 1.000 NULL pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain - no_errors CEP350 HGNC ENSG00000135837 tier1 rs146475303 - 21 0 0.00 19 14 42.42 CHMP4A 0 genome.wustl.edu 37 14 24682715 24682715 + Silent SNP A A G TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 14 24682715 24682715 A G SNP CHMP4A ENST00000347519 human ensembl 74_37 -1 known silent c.60 p.H20 0.000 NULL pfam_Snf7 - no_errors CHMP4A HGNC ENSG00000254505 tier1 - - 41 0 0.00 54 13 19.40 CHODL 0 genome.wustl.edu 37 21 19635123 19635123 + Missense_Mutation SNP T T C TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 21 19635123 19635123 T C SNP CHODL ENST00000299295 human ensembl 74_37 +1 known missense c.650 p.L217P 1.000 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CHODL HGNC ENSG00000154645 tier1 - - 41 0 0.00 11 36 76.60 CHRD 0 genome.wustl.edu 37 3 184106421 184106421 + Silent SNP T T C TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 3 184106421 184106421 T C SNP CHRD ENST00000204604 human ensembl 74_37 +1 known silent c.2601 p.D867 1.000 pirsf_Chordin pfam_CHRD,pfam_VWF_C,smart_VWF_C,smart_CHRD,pirsf_Chordin,pfscan_CHRD,pfscan_VWF_C - no_errors CHRD HGNC ENSG00000090539 tier1 - - 57 0 0.00 72 26 26.53 CISD1 0 genome.wustl.edu 37 10 60029032 60029032 + RNA SNP C C T TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 10 60029032 60029032 C T SNP CISD1 ENST00000464703 human ensembl 74_37 +1 known rna NULL NULL 0.995 - - - no_errors CISD1 HGNC ENSG00000122873 tier1 - - 99 0 0.00 54 24 30.77 CLSTN2 0 genome.wustl.edu 37 3 140282851 140282851 + Missense_Mutation SNP T T C TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 3 140282851 140282851 T C SNP CLSTN2 ENST00000458420 human ensembl 74_37 +1 known missense c.2531 p.L844P 0.998 NULL pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CLSTN2 HGNC ENSG00000158258 tier1 - - 82 0 0.00 90 35 28.00 CNBD1 0 genome.wustl.edu 37 8 88365898 88365898 + Missense_Mutation SNP T T G TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 8 88365898 88365898 T G SNP CNBD1 ENST00000518476 human ensembl 74_37 +1 known missense c.1187 p.L396R 0.229 pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors CNBD1 HGNC ENSG00000176571 tier1 - - 53 0 0.00 114 19 14.29 CNTN1 0 genome.wustl.edu 37 12 41316209 41316209 + Missense_Mutation SNP G G A TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 12 41316209 41316209 G A SNP CNTN1 ENST00000347616 human ensembl 74_37 +1 known missense c.379 p.E127K 0.997 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN1 HGNC ENSG00000018236 19 0 0.00 19 3 13.64 CNTN3 0 genome.wustl.edu 37 3 74347115 74347115 + Silent SNP T T C TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 3 74347115 74347115 T C SNP CNTN3 ENST00000263665 human ensembl 74_37 -1 known silent c.2394 p.A798 1.000 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN3 HGNC ENSG00000113805 tier1 - - 26 0 0.00 25 17 40.48 COL14A1 0 genome.wustl.edu 37 8 121381666 121381666 + Silent SNP T T A TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 8 121381666 121381666 T A SNP COL14A1 ENST00000297848 human ensembl 74_37 +1 known silent c.5253 p.G1751 1.000 NULL 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 tier1 - - 41 0 0.00 70 5 6.67 COL9A2 0 genome.wustl.edu 37 1 40776803 40776803 + Missense_Mutation SNP G G A TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 1 40776803 40776803 G A SNP COL9A2 ENST00000372748 human ensembl 74_37 -1 known missense c.592 p.R198C 0.003 pfam_Collagen pfam_Collagen - no_errors COL9A2 HGNC ENSG00000049089 tier1 - - 43 0 0.00 26 9 25.71 CSMD1 0 genome.wustl.edu 37 8 2966186 2966186 + Missense_Mutation SNP T T G TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 8 2966186 2966186 T G SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known missense c.6696 p.Q2232H 0.914 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC ENSG00000183117 tier1 - - 44 0 0.00 31 8 20.51 CSMD2 0 genome.wustl.edu 37 1 34037135 34037135 + Nonsense_Mutation SNP G G A TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 1 34037135 34037135 G A SNP CSMD2 ENST00000373381 human ensembl 74_37 -1 known nonsense c.7954 p.R2652* 1.000 superfamily_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD2 HGNC ENSG00000121904 tier1 - - 56 0 0.00 27 25 48.08 CSMD3 0 genome.wustl.edu 37 8 113277663 113277663 + Missense_Mutation SNP C C G TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 8 113277663 113277663 C G SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.9665 p.S3222T 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 tier1 - - 53 0 0.00 94 8 7.84 CSMD3 0 genome.wustl.edu 37 8 113326137 113326137 + Missense_Mutation SNP A A T TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 8 113326137 113326137 A T SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.7694 p.I2565K 1.000 superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 tier1 - - 43 0 0.00 146 17 10.43 CWF19L2 0 genome.wustl.edu 37 11 107326458 107326458 + Missense_Mutation SNP C C A TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 11 107326458 107326458 C A SNP CWF19L2 ENST00000282251 human ensembl 74_37 -1 known missense c.150 p.K50N 1.000 NULL pfam_Cwf19-like_C_dom-1,pfam_Cwf19-like_C_dom-2,superfamily_HIT-like - no_errors CWF19L2 HGNC ENSG00000152404 tier1 - - 34 0 0.00 34 12 26.09 CYP7B1 0 genome.wustl.edu 37 8 65527677 65527677 + Missense_Mutation SNP T T G TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 8 65527677 65527677 T G SNP CYP7B1 ENST00000310193 human ensembl 74_37 -1 known missense c.963 p.E321D 1.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450 - no_errors CYP7B1 HGNC ENSG00000172817 tier1 - - 56 0 0.00 99 18 15.38 DCHS2 0 genome.wustl.edu 37 4 155411241 155411241 + Missense_Mutation SNP C C T TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 4 155411241 155411241 C T SNP DCHS2 ENST00000339452 human ensembl 74_37 -1 known missense c.1267 p.V423I 0.001 superfamily_Cadherin-like pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS2 HGNC ENSG00000197410 tier1 - - 31 0 0.00 19 4 17.39 DCN 0 genome.wustl.edu 37 12 91552198 91552198 + Missense_Mutation SNP T T C TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 12 91552198 91552198 T C SNP DCN ENST00000052754 human ensembl 74_37 -1 known missense c.413 p.K138R 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,pirsf_SLRP_I_decor/aspor/byglycan pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,pirsf_SLRP_I_decor/aspor/byglycan - no_errors DCN HGNC ENSG00000011465 tier1 - - 44 0 0.00 49 14 22.22 DMD 0 genome.wustl.edu 37 X 32381009 32381009 + Missense_Mutation SNP A A C TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 X 32381009 32381009 A C SNP DMD ENST00000357033 human ensembl 74_37 -1 known missense c.5221 p.L1741V 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 tier1 - - 23 0 0.00 26 12 31.58 DNAH2 0 genome.wustl.edu 37 17 7637950 7637950 + Missense_Mutation SNP A A T TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 17 7637950 7637950 A T SNP DNAH2 ENST00000389173 human ensembl 74_37 +1 known missense c.902 p.K301M 0.944 pfam_Dynein_heavy_dom-1 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH2 HGNC ENSG00000183914 tier1 - - 66 0 0.00 9 26 74.29 DNAH7 0 genome.wustl.edu 37 2 196834703 196834703 + Missense_Mutation SNP A A C TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 2 196834703 196834703 A C SNP DNAH7 ENST00000312428 human ensembl 74_37 -1 known missense c.2174 p.L725R 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom - no_errors DNAH7 HGNC ENSG00000118997 tier1 - - 44 0 0.00 50 20 28.57 DNAJC3 0 genome.wustl.edu 37 13 96409994 96409994 + Missense_Mutation SNP G G A TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 13 96409994 96409994 G A SNP DNAJC3 ENST00000602402 human ensembl 74_37 +1 known missense c.490 p.A164T 0.863 pfscan_TPR-contain_dom pfam_TPR_1,pfam_DnaJ_domain,smart_TPR_repeat,smart_DnaJ_domain,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJC3 HGNC ENSG00000102580 tier1 - - 50 0 0.00 28 6 17.65 DPP10 0 genome.wustl.edu 37 2 115822281 115822281 + RNA SNP G G T TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 2 115822281 115822281 G T SNP DPP10 ENST00000492708 human ensembl 74_37 +1 known rna NULL NULL 0.005 - - - no_errors DPP10 HGNC ENSG00000175497 tier1 - - 111 0 0.00 93 44 32.12 DPP10 0 genome.wustl.edu 37 2 116447470 116447470 + Silent SNP G G A TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 2 116447470 116447470 G A SNP DPP10 ENST00000393147 human ensembl 74_37 +1 known silent c.561 p.A187 0.959 pfam_Peptidase_S9B pfam_Peptidase_S9B,pfam_Peptidase_S9 - no_errors DPP10 HGNC ENSG00000175497 tier1 - - 36 0 0.00 18 12 40.00 DPYS 0 genome.wustl.edu 37 8 105436539 105436539 + Missense_Mutation SNP T T C TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 8 105436539 105436539 T C SNP DPYS ENST00000351513 human ensembl 74_37 -1 known missense c.1171 p.R391G 1.000 pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors DPYS HGNC ENSG00000147647 tier1 - - 63 0 0.00 124 14 10.14 DRGX 0 genome.wustl.edu 37 10 50599279 50599279 + Silent SNP C C T TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 10 50599279 50599279 C T SNP DRGX ENST00000434016 human ensembl 74_37 -1 known silent c.78 p.S26 0.009 NULL pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_OAR_dom,pfscan_Homeobox_dom - no_errors DRGX HGNC ENSG00000165606 tier1 - - 30 0 0.00 10 10 50.00 DSCAML1 0 genome.wustl.edu 37 11 117376309 117376309 + Missense_Mutation SNP G G A TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 11 117376309 117376309 G A SNP DSCAML1 ENST00000321322 human ensembl 74_37 -1 known missense c.2102 p.S701L 0.996 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DSCAML1 HGNC ENSG00000177103 tier1 - - 80 0 0.00 84 15 15.15 EARS2 0 genome.wustl.edu 37 16 23555876 23555876 + Missense_Mutation SNP C C A TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 16 23555876 23555876 C A SNP EARS2 ENST00000449606 human ensembl 74_37 -1 known missense c.444 p.E148D 1.000 pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,tigrfam_Glu-tRNA-ligase_bac/mito pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,superfamily_aa-tRNA-synth_I_codon-bd,prints_Glu/Gln-tRNA-synth,tigrfam_Glu-tRNA-ligase_bac/mito - no_errors EARS2 HGNC ENSG00000103356 tier1 - - 27 0 0.00 17 12 41.38 EFCAB1 0 genome.wustl.edu 37 8 49644049 49644049 + Missense_Mutation SNP T T G TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 8 49644049 49644049 T G SNP EFCAB1 ENST00000262103 human ensembl 74_37 -1 known missense c.72 p.E24D 1.000 NULL pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin - no_errors EFCAB1 HGNC ENSG00000034239 tier1 - - 35 0 0.00 43 15 25.86 EIF3A 0 genome.wustl.edu 37 10 120830510 120830510 + Missense_Mutation SNP C C T TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 10 120830510 120830510 C T SNP EIF3A ENST00000369144 human ensembl 74_37 -1 known missense c.629 p.R210H 1.000 NULL pfam_PCI_dom,smart_PCI_dom - no_errors EIF3A HGNC ENSG00000107581 tier1 - - 111 0 0.00 84 25 22.94 ELMSAN1 0 genome.wustl.edu 37 14 74193623 74193623 + Missense_Mutation SNP G G A TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 14 74193623 74193623 G A SNP ELMSAN1 ENST00000286523 human ensembl 74_37 -1 known missense c.2215 p.R739C 0.997 pfam_ELM2_dom,pfscan_ELM2_dom pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom - no_errors ELMSAN1 HGNC ENSG00000156030 tier1 - - 59 0 0.00 72 4 5.26 ELP2 0 genome.wustl.edu 37 18 33750037 33750037 + Nonsense_Mutation SNP G G A TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 18 33750037 33750037 G A SNP ELP2 ENST00000358232 human ensembl 74_37 +1 known nonsense c.2088 p.W696* 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors ELP2 HGNC ENSG00000134759 tier1 - - 148 0 0.00 80 46 36.51 ENSG00000207832 0 genome.wustl.edu 37 22 23198781 23198781 + RNA SNP T T A TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 22 23198781 23198781 T A SNP ENSG00000207832 ENST00000385097 human ensembl 74_37 +1 novel rna NULL NULL 0.005 - - - no_errors D87024.1 Clone_based_ensembl_gene ENSG00000207832 tier1 - - 77 0 0.00 50 36 41.86 ENSG00000212952 0 genome.wustl.edu 37 9 44402133 44402133 + Silent SNP C C T TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 9 44402133 44402133 C T SNP ENSG00000212952 ENST00000540551 human ensembl 74_37 -1 known silent c.123 p.A41 0.002 NULL NULL - no_errors BX088651.1 Clone_based_ensembl_gene ENSG00000212952 tier1 - - 46 0 0.00 31 14 31.11 ENSG00000215933 0 genome.wustl.edu 37 X 71372219 71372219 + RNA SNP A A G TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 X 71372219 71372219 A G SNP ENSG00000215933 ENST00000401114 human ensembl 74_37 -1 novel rna NULL NULL 0.003 - - - no_errors BX119917.1 Clone_based_ensembl_gene ENSG00000215933 tier1 - - 45 0 0.00 89 6 6.32 ENSG00000221101 0 genome.wustl.edu 37 6 87183253 87183253 + RNA SNP T T C TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 6 87183253 87183253 T C SNP ENSG00000221101 ENST00000408174 human ensembl 74_37 -1 novel rna NULL NULL 0.060 - - - no_errors AL391417.1 Clone_based_ensembl_gene ENSG00000221101 tier1 - - 64 0 0.00 70 16 18.60 ENSG00000221130 0 genome.wustl.edu 37 11 88845968 88845969 + RNA INS - - AC TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 11 88845968 88845969 - AC INS ENSG00000221130 ENST00000408203 human ensembl 74_37 +1 novel rna NULL NULL 0.026:0.027 - - - no_errors AP001482.1 Clone_based_ensembl_gene ENSG00000221130 tier1 8 0 0.00 9 6 40.00 ENSG00000222692 0 genome.wustl.edu 37 2 51662261 51662261 + RNA SNP A A C TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 2 51662261 51662261 A C SNP ENSG00000222692 ENST00000410760 human ensembl 74_37 -1 novel rna NULL NULL 0.068 - - - no_errors AC007402.1 Clone_based_ensembl_gene ENSG00000222692 tier1 - - 35 0 0.00 32 6 15.79 ENSG00000234719 0 genome.wustl.edu 37 16 12031444 12031444 + Missense_Mutation SNP G G A TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 16 12031444 12031444 G A SNP ENSG00000234719 ENST00000399147 human ensembl 74_37 -1 putative missense c.145 p.P49S 0.023 NULL NULL - no_errors RP11-166B2.1 Clone_based_vega_gene ENSG00000234719 tier1 - - 201 0 0.00 256 63 19.75 ENSG00000251899 0 genome.wustl.edu 37 1 85258800 85258800 + RNA SNP A A C TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 1 85258800 85258800 A C SNP ENSG00000251899 ENST00000516090 human ensembl 74_37 -1 novel rna NULL NULL 0.074 - - - no_errors AC104169.1 Clone_based_ensembl_gene ENSG00000251899 tier1 - - 35 0 0.00 36 21 36.84 ENSG00000257808 0 genome.wustl.edu 37 12 53553787 53553787 + RNA SNP C C A TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 12 53553787 53553787 C A SNP ENSG00000257808 ENST00000550908 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-1136G11.8 Clone_based_vega_gene ENSG00000257808 tier1 - - 16 0 0.00 16 7 30.43 ENSG00000258661 0 genome.wustl.edu 37 14 37117219 37117219 + RNA SNP C C A TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 14 37117219 37117219 C A SNP ENSG00000258661 ENST00000555107 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-964E11.2 Clone_based_vega_gene ENSG00000258661 tier1 - - 139 0 0.00 85 24 22.02 ENSG00000262413 0 genome.wustl.edu 37 17 79826044 79826044 + RNA SNP G G A TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 17 79826044 79826044 G A SNP ENSG00000262413 ENST00000576021 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-498C9.3 Clone_based_vega_gene ENSG00000262413 tier1 - - 72 0 0.00 33 51 60.71 ENSG00000263891 0 genome.wustl.edu 37 7 63361498 63361498 + RNA SNP T T G TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 7 63361498 63361498 T G SNP ENSG00000263891 ENST00000585312 human ensembl 74_37 +1 novel rna NULL NULL 0.003 - - - no_errors AC092634.1 Clone_based_ensembl_gene ENSG00000263891 tier1 - - 27 0 0.00 15 9 37.50 ENSG00000266560 0 genome.wustl.edu 37 X 151284158 151284158 + RNA SNP T T G TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 X 151284158 151284158 T G SNP ENSG00000266560 ENST00000509345 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors RP11-1007I13.4 Clone_based_vega_gene ENSG00000266560 tier1 - - 28 0 0.00 51 23 30.67 ENSG00000267970 0 genome.wustl.edu 37 7 48887563 48887563 + Silent SNP C C T TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 7 48887563 48887563 C T SNP ENSG00000267970 ENST00000596947 human ensembl 74_37 +1 known silent c.63 p.R21 0.070 NULL NULL - no_errors AC004899.1 Clone_based_ensembl_gene ENSG00000267970 tier1 - - 58 0 0.00 35 14 28.57 ENSG00000269175 0 genome.wustl.edu 37 1 101456192 101456193 + Frame_Shift_Ins INS - - A TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 1 101456192 101456193 - A INS ENSG00000269175 ENST00000593496 human ensembl 74_37 +1 known frame_shift_ins c.186_187 p.R65fs 0.576:0.002 NULL NULL - no_errors AC093157.1 Clone_based_ensembl_gene ENSG00000269175 tier1 24 0 0.00 35 6 14.63 ENSG00000271155 0 genome.wustl.edu 37 9 98268576 98268576 + RNA SNP G G C TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 9 98268576 98268576 G C SNP ENSG00000271155 ENST00000604104 human ensembl 74_37 +1 known rna NULL NULL 0.971 - - - no_errors RP11-435O5.5 Clone_based_vega_gene ENSG00000271155 tier1 - - 14 0 0.00 2 7 77.78 ENSG00000271894 0 genome.wustl.edu 37 2 56612188 56612188 + RNA DEL T T - TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 2 56612188 56612188 T - DEL ENSG00000271894 ENST00000607540 human ensembl 74_37 +1 known rna NULL NULL 0.005 - - - no_errors RP11-482H16.1 Clone_based_vega_gene ENSG00000271894 tier1 43 0 0.00 40 12 23.08 ENSG00000272299 0 genome.wustl.edu 37 13 64411581 64411581 + RNA DEL A A - TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 13 64411581 64411581 A - DEL ENSG00000272299 ENST00000606894 human ensembl 74_37 -1 known rna NULL NULL 0.288 - - - no_errors RP11-394A14.4 Clone_based_vega_gene ENSG00000272299 tier1 15 0 0.00 11 5 31.25 EPHA5 0 genome.wustl.edu 37 4 66201750 66201750 + Missense_Mutation SNP C C T TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 4 66201750 66201750 C T SNP EPHA5 ENST00000273854 human ensembl 74_37 -1 known missense c.2752 p.E918K 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA5 HGNC ENSG00000145242 tier1 - - 34 0 0.00 28 13 31.71 EXT1 0 genome.wustl.edu 37 8 118825191 118825191 + Frame_Shift_Del DEL T T - TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 8 118825191 118825191 T - DEL EXT1 ENST00000378204 human ensembl 74_37 -1 known frame_shift_del c.1642 p.S548fs 1.000 pfam_HexNAc_Trfase_a pfam_HexNAc_Trfase_a,pfam_Exostosin - no_errors EXT1 HGNC ENSG00000182197 tier1 19 0 0.00 16 49 75.38 FAM102B 0 genome.wustl.edu 37 1 109148850 109148850 + Frame_Shift_Del DEL A A - TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 1 109148850 109148850 A - DEL FAM102B ENST00000370035 human ensembl 74_37 +1 known frame_shift_del c.264 p.G90fs 1.000 pfam_NT-C2 pfam_NT-C2 - no_errors FAM102B HGNC ENSG00000162636 tier1 84 0 0.00 74 27 26.73 FAM174A 0 genome.wustl.edu 37 5 99921888 99921888 + Silent SNP A A G TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 5 99921888 99921888 A G SNP FAM174A ENST00000312637 human ensembl 74_37 +1 known silent c.573 p.*191 1.000 NULL pfam_DUF1180 - no_errors FAM174A HGNC ENSG00000174132 tier1 - - 24 0 0.00 21 18 46.15 FAM182A 0 genome.wustl.edu 37 20 26061832 26061832 + RNA SNP A A C TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 20 26061832 26061832 A C SNP FAM182A ENST00000376398 human ensembl 74_37 +1 known rna NULL NULL 0.200 - - - no_errors FAM182A HGNC ENSG00000125804 tier1 - - 26 0 0.00 18 7 28.00 FAM71C 0 genome.wustl.edu 37 12 100043066 100043066 + Missense_Mutation SNP G G A TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 12 100043066 100043066 G A SNP FAM71C ENST00000324341 human ensembl 74_37 +1 known missense c.616 p.G206R 0.003 NULL pfam_DUF3699 - no_errors FAM71C HGNC ENSG00000180219 tier1 - - 47 0 0.00 68 10 12.82 FAT4 0 genome.wustl.edu 37 4 126336175 126336175 + Silent SNP A A G TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 4 126336175 126336175 A G SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known silent c.6057 p.Q2019 0.958 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 tier1 - - 49 0 0.00 28 16 35.56 FHL5 0 genome.wustl.edu 37 6 97063607 97063607 + Missense_Mutation SNP T T G TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 6 97063607 97063607 T G SNP FHL5 ENST00000326771 human ensembl 74_37 +1 known missense c.814 p.F272V 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors FHL5 HGNC ENSG00000112214 tier1 - - 12 0 0.00 16 12 42.86 FLJ22763 0 genome.wustl.edu 37 3 108868897 108868897 + RNA SNP G G A TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 3 108868897 108868897 G A SNP FLJ22763 ENST00000467240 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-59E19.1 Clone_based_vega_gene ENSG00000241224 9 0 0.00 23 3 11.54 FNDC3B 0 genome.wustl.edu 37 3 172050929 172050929 + Silent SNP G G T TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 3 172050929 172050929 G T SNP FNDC3B ENST00000336824 human ensembl 74_37 +1 known silent c.1605 p.V535 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors FNDC3B HGNC ENSG00000075420 22 0 0.00 57 4 6.56 GABRA6 0 genome.wustl.edu 37 5 161117215 161117215 + Missense_Mutation SNP G G T TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 5 161117215 161117215 G T SNP GABRA6 ENST00000274545 human ensembl 74_37 +1 known missense c.682 p.V228F 0.996 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_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa6_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRA6 HGNC ENSG00000145863 tier1 - - 63 0 0.00 55 4 6.78 GNAS 0 genome.wustl.edu 37 20 57430199 57430199 + Nonsense_Mutation SNP C C T TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 20 57430199 57430199 C T SNP GNAS ENST00000371100 human ensembl 74_37 +1 putative nonsense c.1879 p.Q627* 0.001 NULL pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_S,prints_Gprotein_alpha_su - no_errors GNAS HGNC ENSG00000087460 tier1 - - 34 0 0.00 32 20 38.46 GOLGB1 0 genome.wustl.edu 37 3 121383820 121383820 + Nonsense_Mutation SNP G G A TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 3 121383820 121383820 G A SNP GOLGB1 ENST00000340645 human ensembl 74_37 -1 known nonsense c.9598 p.Q3200* 0.996 NULL superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo - no_errors GOLGB1 HGNC ENSG00000173230 tier1 - - 50 0 0.00 88 25 22.12 GPRASP2 0 genome.wustl.edu 37 X 101971323 101971323 + Missense_Mutation SNP G G A TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 X 101971323 101971323 G A SNP GPRASP2 ENST00000332262 human ensembl 74_37 +1 known missense c.1526 p.R509Q 0.674 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold - no_errors GPRASP2 HGNC ENSG00000158301 tier1 - - 25 0 0.00 20 12 37.50 GRM1 0 genome.wustl.edu 37 6 146350735 146350735 + Missense_Mutation SNP T T A TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 6 146350735 146350735 T A SNP GRM1 ENST00000282753 human ensembl 74_37 +1 known missense c.82 p.L28M 0.001 prints_GPCR_3_mtglu_rcpt_1 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3_mtglu_rcpt_1,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_5 - no_errors GRM1 HGNC ENSG00000152822 tier1 - - 30 0 0.00 26 35 57.38 GRM7 0 genome.wustl.edu 37 3 7188173 7188173 + Missense_Mutation SNP A A G TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 3 7188173 7188173 A G SNP GRM7 ENST00000402647 human ensembl 74_37 +1 known missense c.554 p.E185G 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_7,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4 - no_errors GRM7 HGNC ENSG00000196277 tier1 - - 37 0 0.00 26 20 43.48 GUCY1A2 0 genome.wustl.edu 37 11 106680972 106680972 + Frame_Shift_Del DEL T T - TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 11 106680972 106680972 T - DEL GUCY1A2 ENST00000282249 human ensembl 74_37 -1 known frame_shift_del c.1439 p.H480fs 1.000 pfam_Haem_no_assoc-bd pfam_Haem_no_assoc-bd,pfam_A/G_cyclase,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors GUCY1A2 HGNC ENSG00000152402 tier1 54 0 0.00 29 23 44.23 HCK 0 genome.wustl.edu 37 20 30659496 30659496 + Missense_Mutation SNP G G T TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 20 30659496 30659496 G T SNP HCK ENST00000375852 human ensembl 74_37 +1 known missense c.94 p.V32F 0.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain - no_errors HCK HGNC ENSG00000101336 tier1 - - 63 0 0.00 80 18 18.37 HCN1 0 genome.wustl.edu 37 5 45645460 45645460 + Missense_Mutation SNP A A G TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 5 45645460 45645460 A G SNP HCN1 ENST00000303230 human ensembl 74_37 -1 known missense c.676 p.F226L 1.000 pfam_Ion_trans_dom pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG - no_errors HCN1 HGNC ENSG00000164588 tier1 - - 35 0 0.00 28 14 33.33 HDAC9 0 genome.wustl.edu 37 7 18806744 18806744 + Missense_Mutation SNP A A C TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 7 18806744 18806744 A C SNP HDAC9 ENST00000441542 human ensembl 74_37 +1 known missense c.2180 p.K727T 1.000 pfam_His_deacetylse_dom,pirsf_Histone_deAcase_II_euk pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse - no_errors HDAC9 HGNC ENSG00000048052 tier1 - - 61 0 0.00 26 14 35.00 HEPH 0 genome.wustl.edu 37 X 65486415 65486415 + Silent SNP T T G TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 X 65486415 65486415 T G SNP HEPH ENST00000519389 human ensembl 74_37 +1 known silent c.3540 p.L1180 0.249 NULL pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Cupredoxin - no_errors HEPH HGNC ENSG00000089472 tier1 - - 37 0 0.00 69 5 6.76 HMBS 0 genome.wustl.edu 37 11 118960710 118960710 + Missense_Mutation SNP C C A TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 11 118960710 118960710 C A SNP HMBS ENST00000278715 human ensembl 74_37 +1 known missense c.355 p.P119T 1.000 pfam_Porphobilin_deaminase_N,pirsf_4pyrrol_synth_OHMeBilane_synth,tigrfam_4pyrrol_synth_OHMeBilane_synth pfam_Porphobilin_deaminase_N,pfam_Porphobilinogen_deaminase_C,superfamily_Porphobilinogen_deaminase_C,pirsf_4pyrrol_synth_OHMeBilane_synth,prints_4pyrrol_synth_OHMeBilane_synth,tigrfam_4pyrrol_synth_OHMeBilane_synth - no_errors HMBS HGNC ENSG00000256269 tier1 - - 67 0 0.00 80 9 10.11 HNRNPUL1 0 genome.wustl.edu 37 19 41807528 41807528 + Missense_Mutation SNP G G A TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 19 41807528 41807528 G A SNP HNRNPUL1 ENST00000392006 human ensembl 74_37 +1 known missense c.1606 p.E536K 1.000 superfamily_P-loop_NTPase pfam_SPRY_rcpt,pfam_SAP_dom,superfamily_ConA-like_lec_gl_sf,superfamily_P-loop_NTPase,smart_SAP_dom,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_SAP_dom - no_errors HNRNPUL1 HGNC ENSG00000105323 tier1 - - 28 0 0.00 37 12 24.49 HSPA4L 0 genome.wustl.edu 37 4 128726323 128726323 + Missense_Mutation SNP G G C TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 4 128726323 128726323 G C SNP HSPA4L ENST00000439123 human ensembl 74_37 +1 known missense c.1174 p.D392H 1.000 pfam_Hsp_70_fam,pfam_MreB_Mrl pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA4L HGNC ENSG00000164070 tier1 - - 36 0 0.00 15 13 46.43 IGSF22 0 genome.wustl.edu 37 11 18733790 18733790 + Missense_Mutation SNP T T G TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 11 18733790 18733790 T G SNP IGSF22 ENST00000513874 human ensembl 74_37 -1 known missense c.2237 p.K746T 0.974 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors IGSF22 HGNC ENSG00000179057 tier1 - - 84 0 0.00 54 32 37.21 INHBA 0 genome.wustl.edu 37 7 41730006 41730006 + Frame_Shift_Del DEL G G - TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 7 41730006 41730006 G - DEL INHBA ENST00000242208 human ensembl 74_37 -1 known frame_shift_del c.523 p.L175fs 0.999 pfam_TGF-b_N pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_betaA,prints_Inhibin_asu - no_errors INHBA HGNC ENSG00000122641 tier1 30 0 0.00 41 23 35.94 IVL 0 genome.wustl.edu 37 1 152882791 152882791 + Missense_Mutation SNP T T C TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 1 152882791 152882791 T C SNP IVL ENST00000368764 human ensembl 74_37 +1 known missense c.518 p.L173P 0.000 pfam_Involucrin_rpt pfam_Involucrin_N,pfam_Involucrin_rpt - no_errors IVL HGNC ENSG00000163207 tier1 - - 50 0 0.00 76 20 20.83 KCNA1 0 genome.wustl.edu 37 12 5021058 5021058 + Missense_Mutation SNP G G A TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 12 5021058 5021058 G A SNP KCNA1 ENST00000382545 human ensembl 74_37 +1 known missense c.514 p.V172I 0.996 prints_K_chnl,prints_K_chnl_volt-dep_Kv1 pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv1.1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv1.3 - no_errors KCNA1 HGNC ENSG00000111262 tier1 - - 40 0 0.00 28 22 44.00 KCNH2 0 genome.wustl.edu 37 7 150648207 150648207 + Silent SNP G G A TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 7 150648207 150648207 G A SNP KCNH2 ENST00000262186 human ensembl 74_37 -1 known silent c.1947 p.S649 0.994 pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_cNMP-bd_dom,pfam_PAS_fold,pfam_PAS_fold_3,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH2 HGNC ENSG00000055118 tier1 - - 22 0 0.00 15 5 25.00 KIAA1024 0 genome.wustl.edu 37 15 79755565 79755565 + Missense_Mutation SNP G G A TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 15 79755565 79755565 G A SNP KIAA1024 ENST00000305428 human ensembl 74_37 +1 known missense c.2455 p.E819K 0.994 pfam_UPF0258 pfam_UPF0258 - no_errors KIAA1024 HGNC ENSG00000169330 tier1 - - 29 0 0.00 7 14 66.67 KIAA1109 0 genome.wustl.edu 37 4 123264574 123264574 + Missense_Mutation SNP G G T TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 4 123264574 123264574 G T SNP KIAA1109 ENST00000264501 human ensembl 74_37 +1 known missense c.12362 p.G4121V 0.755 NULL pfam_Fragile_site-assoc_C - no_errors KIAA1109 HGNC ENSG00000138688 tier1 - - 53 0 0.00 32 21 39.62 KIAA1210 0 genome.wustl.edu 37 X 118221265 118221265 + Missense_Mutation SNP C C G TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 X 118221265 118221265 C G SNP KIAA1210 ENST00000402510 human ensembl 74_37 -1 known missense c.3928 p.V1310L 0.000 NULL NULL - no_errors KIAA1210 HGNC ENSG00000250423 tier1 - - 28 0 0.00 38 20 34.48 KIAA1755 0 genome.wustl.edu 37 20 36870238 36870238 + Missense_Mutation SNP A A C TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 20 36870238 36870238 A C SNP KIAA1755 ENST00000279024 human ensembl 74_37 -1 known missense c.295 p.L99V 0.081 NULL superfamily_CRAL-TRIO_dom - no_errors KIAA1755 HGNC ENSG00000149633 tier1 - - 48 0 0.00 47 16 25.40 KIAA1841 0 genome.wustl.edu 37 2 61345225 61345225 + Nonsense_Mutation SNP C C T TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 2 61345225 61345225 C T SNP KIAA1841 ENST00000356719 human ensembl 74_37 +1 known nonsense c.2002 p.R668* 1.000 NULL pfam_DUF3342,superfamily_BTB/POZ_fold,superfamily_Homeodomain-like - no_errors KIAA1841 HGNC ENSG00000162929 tier1 - - 43 0 0.00 54 5 8.47 KIAA2018 0 genome.wustl.edu 37 3 113378632 113378632 + Missense_Mutation SNP G G A TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 3 113378632 113378632 G A SNP KIAA2018 ENST00000316407 human ensembl 74_37 -1 known missense c.1897 p.L633F 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors KIAA2018 HGNC ENSG00000176542 tier1 - - 56 0 0.00 38 90 70.31 KIF22 0 genome.wustl.edu 37 16 29810459 29810459 + Missense_Mutation SNP G G A TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 16 29810459 29810459 G A SNP KIF22 ENST00000160827 human ensembl 74_37 +1 known missense c.713 p.R238Q 1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,superfamily_RuvA_2-like,smart_Kinesin_motor_dom,smart_Hlx-hairpin-Hlx_DNA-bd_motif,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF22 HGNC ENSG00000079616 tier1 - - 41 0 0.00 26 9 25.71 KIF5B 0 genome.wustl.edu 37 10 32307483 32307483 + Missense_Mutation SNP G G T TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 10 32307483 32307483 G T SNP KIF5B ENST00000302418 human ensembl 74_37 -1 known missense c.2314 p.Q772K 1.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF5B HGNC ENSG00000170759 tier1 - - 64 0 0.00 70 24 25.53 KLHL13 0 genome.wustl.edu 37 X 117033237 117033237 + Silent SNP T T C TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 X 117033237 117033237 T C SNP KLHL13 ENST00000539496 human ensembl 74_37 -1 known silent c.1611 p.G537 1.000 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,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 KLHL13 HGNC ENSG00000003096 tier1 - - 27 0 0.00 30 25 45.45 KLRG1 0 genome.wustl.edu 37 12 9144868 9144868 + Missense_Mutation SNP T T C TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 12 9144868 9144868 T C SNP KLRG1 ENST00000266551 human ensembl 74_37 +1 known missense c.149 p.L50P 0.724 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors KLRG1 HGNC ENSG00000139187 tier1 - - 49 0 0.00 23 12 34.29 L3MBTL4 0 genome.wustl.edu 37 18 6171916 6171916 + Missense_Mutation SNP T T G TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 18 6171916 6171916 T G SNP L3MBTL4 ENST00000284898 human ensembl 74_37 -1 known missense c.1007 p.K336T 0.999 pfam_Mbt,smart_Mbt,pfscan_Mbt pfam_Mbt,pfam_SAM_type1,pfam_Znf_C2HC,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt,pfscan_SAM - no_errors L3MBTL4 HGNC ENSG00000154655 tier1 - - 35 0 0.00 42 16 27.59 LAS1L 0 genome.wustl.edu 37 X 64743982 64743982 + Nonsense_Mutation SNP G G T TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 X 64743982 64743982 G T SNP LAS1L ENST00000374811 human ensembl 74_37 -1 known nonsense c.1254 p.Y418* 1.000 NULL pfam_Las1 - no_errors LAS1L HGNC ENSG00000001497 21 0 0.00 30 3 9.09 LCN15 0 genome.wustl.edu 37 9 139656718 139656718 + Frame_Shift_Del DEL G G - TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 9 139656718 139656718 G - DEL LCN15 ENST00000316144 human ensembl 74_37 -1 known frame_shift_del c.442 p.Q148fs 0.341 pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_PstgldnD_synth,prints_Lipocalin,prints_A1-microglobln,prints_Blactoglobulin pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_PstgldnD_synth,prints_Lipocalin,prints_A1-microglobln,prints_Blactoglobulin - no_errors LCN15 HGNC ENSG00000177984 tier1 23 0 0.00 20 3 13.04 LDB2 0 genome.wustl.edu 37 4 16900100 16900100 + Missense_Mutation SNP G G T TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 4 16900100 16900100 G T SNP LDB2 ENST00000304523 human ensembl 74_37 -1 known missense c.9 p.S3R 1.000 NULL NULL - no_errors LDB2 HGNC ENSG00000169744 tier1 - - 69 0 0.00 45 12 20.69 LILRA3 0 genome.wustl.edu 37 19 54802638 54802638 + Missense_Mutation SNP C C T TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 19 54802638 54802638 C T SNP LILRA3 ENST00000251390 human ensembl 74_37 -1 known missense c.803 p.R268H 0.000 smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like_dom pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like_dom - no_errors LILRA3 HGNC ENSG00000170866 tier1 - - 71 0 0.00 122 13 9.63 LILRA4 0 genome.wustl.edu 37 19 54849483 54849483 + Missense_Mutation SNP C C T TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 19 54849483 54849483 C T SNP LILRA4 ENST00000291759 human ensembl 74_37 -1 known missense c.379 p.A127T 0.035 pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like_dom smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like_dom - no_errors LILRA4 HGNC ENSG00000239961 tier1 - - 38 0 0.00 77 29 27.36 LINC00969 0 genome.wustl.edu 37 3 195410697 195410697 + RNA SNP G G A TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 3 195410697 195410697 G A SNP LINC00969 ENST00000414625 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors LINC00969 HGNC ENSG00000242086 tier1 - - 77 0 0.00 108 23 17.56 LIPI 0 genome.wustl.edu 37 21 15535844 15535844 + Missense_Mutation SNP C C T TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 21 15535844 15535844 C T SNP LIPI ENST00000344577 human ensembl 74_37 -1 known missense c.965 p.G322D 1.000 pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase - no_errors LIPI HGNC ENSG00000188992 tier1 - - 44 0 0.00 36 5 12.20 LOC100289283 0 genome.wustl.edu 37 16 29821983 29821984 + RNA INS - - T TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 16 29821983 29821984 - T INS LOC100289283 ENST00000569981 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors AC009133.14 Clone_based_vega_gene ENSG00000238045 tier1 31 0 0.00 22 3 12.00 LOC100289580 0 genome.wustl.edu 37 16 88804630 88804630 + RNA SNP G G A TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 16 88804630 88804630 G A SNP LOC100289580 ENST00000440406 human ensembl 74_37 +1 known rna NULL NULL 0.386 - - - no_errors RP5-1142A6.2 Clone_based_vega_gene ENSG00000224888 tier1 - - 23 0 0.00 29 4 12.12 LOC101927188 0 genome.wustl.edu 37 18 6956263 6956263 + RNA DEL T T - TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 18 6956263 6956263 T - DEL LOC101927188 ENST00000584722 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-781P6.1 Clone_based_vega_gene ENSG00000265069 tier1 14 0 0.00 14 6 30.00 LOC283683 0 genome.wustl.edu 37 15 23108650 23108650 + RNA DEL T T - TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 15 23108650 23108650 T - DEL LOC283683 ENST00000561063 human ensembl 74_37 -1 known rna NULL NULL 0.005 - - - no_errors RP11-566K19.6 Clone_based_vega_gene ENSG00000259344 tier1 31 0 0.00 16 13 44.83 LRIG1 0 genome.wustl.edu 37 3 66460607 66460607 + Missense_Mutation SNP G G A TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 3 66460607 66460607 G A SNP LRIG1 ENST00000273261 human ensembl 74_37 -1 known missense c.881 p.S294F 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Cys-rich_flank_reg_C,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRIG1 HGNC ENSG00000144749 tier1 - - 40 0 0.00 21 5 19.23 LRP1B 0 genome.wustl.edu 37 2 141208225 141208225 + Silent SNP A A G TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 2 141208225 141208225 A G SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known silent c.9969 p.R3323 0.936 pfam_LDrepeatLR_classA_rpt,superfamily_Growth_fac_rcpt_N_dom,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 16 0 0.00 19 4 17.39 LRRC1 0 genome.wustl.edu 37 6 53660182 53660182 + Missense_Mutation SNP T T A TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 6 53660182 53660182 T A SNP LRRC1 ENST00000370888 human ensembl 74_37 +1 known missense c.128 p.L43Q 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC1 HGNC ENSG00000137269 tier1 - - 53 0 0.00 51 14 21.54 LRRC4C 0 genome.wustl.edu 37 11 40136104 40136104 + Missense_Mutation SNP G G C TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 11 40136104 40136104 G C SNP LRRC4C ENST00000527150 human ensembl 74_37 -1 known missense c.1739 p.P580R 1.000 NULL pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors LRRC4C HGNC ENSG00000148948 tier1 - - 73 0 0.00 85 24 22.02 LRRC4C 0 genome.wustl.edu 37 11 40136422 40136422 + Missense_Mutation SNP T T G TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 11 40136422 40136422 T G SNP LRRC4C ENST00000527150 human ensembl 74_37 -1 known missense c.1421 p.N474T 1.000 NULL pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors LRRC4C HGNC ENSG00000148948 tier1 - - 72 0 0.00 72 22 23.40 LRTM1 0 genome.wustl.edu 37 3 54958788 54958788 + Missense_Mutation SNP T T G TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 3 54958788 54958788 T G SNP LRTM1 ENST00000273286 human ensembl 74_37 -1 known missense c.462 p.Q154H 0.124 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRTM1 HGNC ENSG00000144771 tier1 - - 19 0 0.00 23 5 17.86 LZTR1 0 genome.wustl.edu 37 22 21348441 21348441 + Missense_Mutation SNP G G T TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 22 21348441 21348441 G T SNP LZTR1 ENST00000215739 human ensembl 74_37 +1 known missense c.1498 p.A500S 0.017 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_Kelch_1,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_Kelch_1,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors LZTR1 HGNC ENSG00000099949 tier1 - - 53 0 0.00 18 47 72.31 MACROD2 0 genome.wustl.edu 37 20 16021881 16021881 + Missense_Mutation SNP A A G TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 20 16021881 16021881 A G SNP MACROD2 ENST00000310348 human ensembl 74_37 +1 known missense c.1189 p.S397G 0.053 NULL pfam_Macro_dom,smart_Macro_dom,pfscan_Macro_dom - no_errors MACROD2 HGNC ENSG00000172264 tier1 - - 27 0 0.00 30 12 25.53 MADD 0 genome.wustl.edu 37 11 47305736 47305736 + Missense_Mutation SNP G G T TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 11 47305736 47305736 G T SNP MADD ENST00000311027 human ensembl 74_37 +1 known missense c.1870 p.D624Y 1.000 NULL pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors MADD HGNC ENSG00000110514 tier1 - - 49 0 0.00 57 4 6.56 MAGEA12 0 genome.wustl.edu 37 X 151900433 151900433 + Missense_Mutation SNP T T G TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 X 151900433 151900433 T G SNP MAGEA12 ENST00000357916 human ensembl 74_37 -1 known missense c.368 p.K123T 0.015 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEA12 HGNC ENSG00000213401 tier1 - - 61 0 0.00 101 43 29.86 MAP1A 0 genome.wustl.edu 37 15 43815519 43815520 + Frame_Shift_Del DEL AG AG - TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 15 43815519 43815520 AG - DEL MAP1A ENST00000399453 human ensembl 74_37 +1 known frame_shift_del c.1848_1849 p.E617fs 0.002:0.889 NULL NULL - no_errors MAP1A HGNC ENSG00000166963 tier1 15 0 0.00 22 12 35.29 MARCH4 0 genome.wustl.edu 37 2 217148414 217148414 + Silent SNP G G C TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 2 217148414 217148414 G C SNP MARCH4 ENST00000273067 human ensembl 74_37 -1 known silent c.555 p.V185 1.000 pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH - no_errors MARCH4 HGNC ENSG00000144583 tier1 - - 45 0 0.00 41 19 31.67 MARCH8 0 genome.wustl.edu 37 10 45958757 45958757 + Silent SNP G G A TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 10 45958757 45958757 G A SNP MARCH8 ENST00000453424 human ensembl 74_37 -1 putative silent c.930 p.D310 0.902 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,pfscan_Znf_RING - no_errors MARCH8 HGNC ENSG00000165406 tier1 - - 33 0 0.00 33 7 17.50 MARCO 0 genome.wustl.edu 37 2 119727832 119727832 + Missense_Mutation SNP A A T TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 2 119727832 119727832 A T SNP MARCO ENST00000327097 human ensembl 74_37 +1 known missense c.342 p.Q114H 0.007 NULL pfam_Collagen,pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR - no_errors MARCO HGNC ENSG00000019169 tier1 - - 26 0 0.00 24 9 27.27 MARK1 0 genome.wustl.edu 37 1 220825478 220825478 + Silent SNP A A G TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 1 220825478 220825478 A G SNP MARK1 ENST00000366917 human ensembl 74_37 +1 known silent c.1722 p.E574 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_KA1_dom,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom - no_errors MARK1 HGNC ENSG00000116141 tier1 - - 48 0 0.00 31 22 41.51 MARK1 0 genome.wustl.edu 37 1 220835336 220835336 + Missense_Mutation SNP T T G TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 1 220835336 220835336 T G SNP MARK1 ENST00000366917 human ensembl 74_37 +1 known missense c.2216 p.L739W 1.000 superfamily_KA1/Ssp2_C pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_KA1_dom,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom - no_errors MARK1 HGNC ENSG00000116141 tier1 - - 42 0 0.00 36 13 26.53 MEG3 0 genome.wustl.edu 37 14 101300927 101300927 + RNA SNP C C G TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 14 101300927 101300927 C G SNP MEG3 ENST00000398461 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MEG3 HGNC ENSG00000214548 tier1 - - 29 0 0.00 28 11 28.21 MEG3 0 genome.wustl.edu 37 14 101324951 101324951 + RNA SNP G G A TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 14 101324951 101324951 G A SNP MEG3 ENST00000398460 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors MEG3 HGNC ENSG00000214548 tier1 - - 36 0 0.00 32 10 23.81 MFSD6L 0 genome.wustl.edu 37 17 8702166 8702166 + Missense_Mutation SNP G G T TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 17 8702166 8702166 G T SNP MFSD6L ENST00000329805 human ensembl 74_37 -1 known missense c.273 p.S91R 0.978 superfamily_MFS_dom_general_subst_transpt superfamily_MFS_dom_general_subst_transpt - no_errors MFSD6L HGNC ENSG00000185156 tier1 - - 62 0 0.00 58 5 7.94 MGAT1 0 genome.wustl.edu 37 5 180218677 180218677 + Missense_Mutation SNP G G A TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 5 180218677 180218677 G A SNP MGAT1 ENST00000307826 human ensembl 74_37 -1 known missense c.1295 p.A432V 0.998 pfam_Glyco_trans_13 pfam_Glyco_trans_13 - no_errors MGAT1 HGNC ENSG00000131446 tier1 - - 18 0 0.00 18 9 33.33 MIER1 0 genome.wustl.edu 37 1 67424600 67424600 + Nonsense_Mutation SNP C C T TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 1 67424600 67424600 C T SNP MIER1 ENST00000401041 human ensembl 74_37 +1 known nonsense c.568 p.Q190* 0.997 NULL pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom - no_errors MIER1 HGNC ENSG00000198160 tier1 - - 44 0 0.00 38 16 29.63 MMP24-AS1 0 genome.wustl.edu 37 20 33864536 33864536 + RNA SNP C C T TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 20 33864536 33864536 C T SNP MMP24-AS1 ENST00000435366 human ensembl 74_37 -1 known rna NULL NULL 0.994 - - - no_errors MMP24-AS1 HGNC ENSG00000126005 tier1 - - 27 0 0.00 35 12 25.53 MMS22L 0 genome.wustl.edu 37 6 97597747 97597747 + Missense_Mutation SNP C C T TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 6 97597747 97597747 C T SNP MMS22L ENST00000275053 human ensembl 74_37 -1 known missense c.3632 p.G1211D 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MMS22L HGNC ENSG00000146263 tier1 - - 28 0 0.00 28 16 36.36 MOCS1 0 genome.wustl.edu 37 6 39880116 39880116 + Silent SNP G G T TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 6 39880116 39880116 G T SNP MOCS1 ENST00000340692 human ensembl 74_37 -1 known silent c.873 p.A291 1.000 pfam_Mob_synth_C,tigrfam_MoaA pfam_Mopterin_CF_biosynth-C_dom,pfam_Mob_synth_C,pfam_rSAM,superfamily_Mopterin_CF_biosynth-C_dom,smart_Elp3/MiaB/NifB,tigrfam_MoaA,tigrfam_Mo_CF_biosynth-C - no_errors MOCS1 HGNC ENSG00000124615 tier1 - - 57 0 0.00 67 23 25.56 MOGAT2 0 genome.wustl.edu 37 11 75439077 75439077 + Missense_Mutation SNP T T A TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 11 75439077 75439077 T A SNP MOGAT2 ENST00000198801 human ensembl 74_37 +1 known missense c.538 p.L180M 0.949 pfam_DAGAT pfam_DAGAT - no_errors MOGAT2 HGNC ENSG00000166391 35 0 0.00 52 5 8.77 MSR1 0 genome.wustl.edu 37 8 16026304 16026304 + Missense_Mutation SNP G G A TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 8 16026304 16026304 G A SNP MSR1 ENST00000262101 human ensembl 74_37 -1 known missense c.293 p.T98M 0.000 NULL pfam_SRCR,pfam_Macro_scav_rcpt,pfam_Collagen,superfamily_Srcr_rcpt-rel,superfamily_STAT_TF_coiled-coil,smart_Srcr_rcpt-rel,prints_Macro_scav_rcpt,prints_SRCR,pfscan_SRCR - no_errors MSR1 HGNC ENSG00000038945 tier1 - - 61 0 0.00 40 20 33.33 MT-CO2 0 genome.wustl.edu 37 MT 7790 7790 + Missense_Mutation SNP C C T TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 MT 7790 7790 C T SNP MT-CO2 ENST00000361739 human ensembl 74_37 +1 known missense c.205 p.P69S NULL pfam_Cyt_c_oxidase_su2_TM_dom,superfamily_Cyt_c_oxidase_su2_TM_dom,pfscan_Cyt_c_oxidase_su2_TM_dom,tigrfam_Cyt_c_oxidase_su2 pfam_Cyt_c_oxidase_su2_C,pfam_Cyt_c_oxidase_su2_TM_dom,superfamily_Cupredoxin,superfamily_Cyt_c_oxidase_su2_TM_dom,pfscan_Cyt_c_oxidase_su2_TM_dom,pfscan_Cyt_c_oxidase_su2_C,tigrfam_Cyt_c_oxidase_su2 - no_errors MT-CO2 HGNC ENSG00000198712 tier1 - - 321 0 0.00 652 267 29.02 MTUS2 0 genome.wustl.edu 37 13 29674973 29674973 + Missense_Mutation SNP G G A TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 13 29674973 29674973 G A SNP MTUS2 ENST00000431530 human ensembl 74_37 +1 known missense c.2540 p.R847H 0.996 NULL NULL - no_errors MTUS2 HGNC ENSG00000132938 tier1 - - 91 0 0.00 47 15 24.19 MUC19 0 genome.wustl.edu 37 12 40915464 40915464 + RNA SNP A A G TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 12 40915464 40915464 A G SNP MUC19 ENST00000398702 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors MUC19 HGNC ENSG00000205592 tier1 - - 58 0 0.00 64 12 15.79 MYB 0 genome.wustl.edu 37 6 135509008 135509008 + Missense_Mutation SNP A A G TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 6 135509008 135509008 A G SNP MYB ENST00000341911 human ensembl 74_37 +1 known missense c.178 p.T60A 1.000 pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom pfam_C-myb_C,pfam_SANT/Myb,pfam_Tscrpt_reg_Wos2-domain,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors MYB HGNC ENSG00000118513 tier1 - - 68 0 0.00 99 22 18.18 MYEOV 0 genome.wustl.edu 37 11 69063273 69063273 + Missense_Mutation SNP C C T TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 11 69063273 69063273 C T SNP MYEOV ENST00000308946 human ensembl 74_37 +1 known missense c.356 p.A119V 0.046 NULL NULL - no_errors MYEOV HGNC ENSG00000172927 66 0 0.00 70 4 5.41 MYH2 0 genome.wustl.edu 37 17 10431082 10431082 + Missense_Mutation SNP C C T TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 17 10431082 10431082 C T SNP MYH2 ENST00000245503 human ensembl 74_37 -1 known missense c.3854 p.R1285H 0.996 pfam_Myosin_tail,superfamily_Prefoldin pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH2 HGNC ENSG00000125414 tier1 rs148326504 - 33 0 0.00 30 12 28.57 MYOCD 0 genome.wustl.edu 37 17 12656029 12656029 + Missense_Mutation SNP T T G TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 17 12656029 12656029 T G SNP MYOCD ENST00000425538 human ensembl 74_37 +1 known missense c.1424 p.F475C 1.000 NULL pfam_RPEL_repeat,pfam_SAP_dom,smart_RPEL_repeat,smart_SAP_dom,pfscan_RPEL_repeat,pfscan_SAP_dom - no_errors MYOCD HGNC ENSG00000141052 tier1 - - 25 0 0.00 16 5 23.81 MYT1L 0 genome.wustl.edu 37 2 1891271 1891272 + Frame_Shift_Ins INS - - T TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 2 1891271 1891272 - T INS MYT1L ENST00000399161 human ensembl 74_37 -1 known frame_shift_ins c.2631_2630 p.D878fs 1.000:1.000 NULL pfam_Myelin_TF,pfam_Znf_C2HC - no_errors MYT1L HGNC ENSG00000186487 tier1 75 0 0.00 64 27 29.67 NEFH 0 genome.wustl.edu 37 22 29886193 29886195 + In_Frame_Del DEL AGA AGA - TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 22 29886193 29886195 AGA - DEL NEFH ENST00000310624 human ensembl 74_37 +1 known in_frame_del c.2564_2566 p.K857in_frame_del 0.995:0.967:0.974 NULL pfam_IF,pfam_DUF1388 - no_errors NEFH HGNC ENSG00000100285 tier1 14 0 0.00 10 6 37.50 NETO1 0 genome.wustl.edu 37 18 70534522 70534522 + Missense_Mutation SNP A A T TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 18 70534522 70534522 A T SNP NETO1 ENST00000327305 human ensembl 74_37 -1 known missense c.5 p.I2N 1.000 NULL pfam_CUB_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt - no_errors NETO1 HGNC ENSG00000166342 tier1 - - 15 0 0.00 11 5 31.25 NKPD1 0 genome.wustl.edu 37 19 45655768 45655769 + In_Frame_Ins INS - - CTG TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 19 45655768 45655769 - CTG INS NKPD1 ENST00000317951 human ensembl 74_37 -1 known in_frame_ins c.1927_1926 p.642in_frame_insQ 0.836:0.910 NULL pfam_KAP_NTPase - no_errors NKPD1 HGNC ENSG00000179846 tier1 26 0 0.00 26 15 36.59 NLRC3 0 genome.wustl.edu 37 16 3614763 3614763 + RNA SNP C C T TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 16 3614763 3614763 C T SNP NLRC3 ENST00000603055 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors NLRC3 HGNC ENSG00000167984 tier1 - - 82 0 0.00 59 21 26.25 NLRP13 0 genome.wustl.edu 37 19 56416458 56416458 + Missense_Mutation SNP G G A TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 19 56416458 56416458 G A SNP NLRP13 ENST00000342929 human ensembl 74_37 -1 known missense c.2468 p.S823L 0.015 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP13 HGNC ENSG00000173572 tier1 - - 61 0 0.00 56 30 34.88 NNT 0 genome.wustl.edu 37 5 43659311 43659311 + Missense_Mutation SNP G G A TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 5 43659311 43659311 G A SNP NNT ENST00000264663 human ensembl 74_37 +1 known missense c.2493 p.M831I 1.000 pfam_NADH_DH_b pfam_NADH_DH_b,pfam_AlaDH/PNT_NAD(H)-bd,pfam_AlaDH/PNT_N,tigrfam_NADP_transhyd_a - no_errors NNT HGNC ENSG00000112992 tier1 - - 77 0 0.00 57 35 38.04 NOC3L 0 genome.wustl.edu 37 10 96116319 96116319 + Missense_Mutation SNP G G C TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 10 96116319 96116319 G C SNP NOC3L ENST00000371350 human ensembl 74_37 -1 known missense c.538 p.Q180E 0.999 superfamily_ARM-type_fold,pirsf_Nucleolar_cplx-assoc_3 pfam_CCAAT-binding_factor,pfam_NOC3p,superfamily_ARM-type_fold,pirsf_Nucleolar_cplx-assoc_3 - no_errors NOC3L HGNC ENSG00000173145 tier1 - - 22 0 0.00 15 8 34.78 NPHS2 0 genome.wustl.edu 37 1 179526362 179526362 + Missense_Mutation SNP C C T TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 1 179526362 179526362 C T SNP NPHS2 ENST00000367615 human ensembl 74_37 -1 known missense c.538 p.V180M 1.000 pfam_Band_7,smart_Band_7,prints_Stomatin pfam_Band_7,smart_Band_7,prints_Stomatin - no_errors NPHS2 HGNC ENSG00000116218 tier1 rs74315347 - 38 0 0.00 31 18 36.73 NR2C2 0 genome.wustl.edu 37 3 15064742 15064742 + Missense_Mutation SNP C C T TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 3 15064742 15064742 C T SNP NR2C2 ENST00000323373 human ensembl 74_37 +1 known missense c.649 p.R217W 0.995 superfamily_Nucl_hormone_rcpt_ligand-bd 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_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt - no_errors NR2C2 HGNC ENSG00000177463 tier1 - - 49 0 0.00 29 6 17.14 NRG1 0 genome.wustl.edu 37 8 32453467 32453467 + Silent SNP G G T TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 8 32453467 32453467 G T SNP NRG1 ENST00000338921 human ensembl 74_37 +1 known silent c.222 p.G74 0.996 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Neuregulin_1_C,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Ig-like_dom,prints_Neuregulin - no_errors NRG1 HGNC ENSG00000157168 23 0 0.00 35 4 10.26 NRK 0 genome.wustl.edu 37 X 105156740 105156740 + Missense_Mutation SNP A A C TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 X 105156740 105156740 A C SNP NRK ENST00000428173 human ensembl 74_37 +1 known missense c.2345 p.K782T 0.001 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Citron,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom - no_errors NRK HGNC ENSG00000123572 tier1 - - 31 0 0.00 28 22 44.00 NRXN1 0 genome.wustl.edu 37 2 50850700 50850700 + Silent SNP A A G TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 2 50850700 50850700 A G SNP NRXN1 ENST00000402717 human ensembl 74_37 -1 known silent c.886 p.L296 1.000 superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN1 HGNC ENSG00000179915 tier1 - - 36 0 0.00 42 20 32.26 NYAP2 0 genome.wustl.edu 37 2 226446657 226446657 + Missense_Mutation SNP C C A TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 2 226446657 226446657 C A SNP NYAP2 ENST00000272907 human ensembl 74_37 +1 known missense c.524 p.A175E 0.494 NULL NULL - no_errors NYAP2 HGNC ENSG00000144460 32 0 0.00 34 2 5.56 OGFRL1 0 genome.wustl.edu 37 6 72011416 72011416 + Silent SNP T T C TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 6 72011416 72011416 T C SNP OGFRL1 ENST00000370435 human ensembl 74_37 +1 known silent c.1020 p.T340 0.027 NULL pfam_OGF_rcpt - no_errors OGFRL1 HGNC ENSG00000119900 tier1 - - 10 0 0.00 11 6 35.29 OPLAH 0 genome.wustl.edu 37 8 145110038 145110038 + Missense_Mutation SNP C C T TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 8 145110038 145110038 C T SNP OPLAH ENST00000426825 human ensembl 74_37 -1 known missense c.2303 p.R768H 0.999 pfam_Hydantoinase_B pfam_Hydantoinase_B,pfam_Hydantoinase_A,pfam_Hydant_A_N - no_errors OPLAH HGNC ENSG00000178814 tier1 - - 35 0 0.00 72 4 5.26 OR10G4 0 genome.wustl.edu 37 11 123886648 123886648 + Silent SNP T T C TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 11 123886648 123886648 T C SNP OR10G4 ENST00000320891 human ensembl 74_37 +1 known silent c.367 p.L123 0.994 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 OR10G4 HGNC ENSG00000254737 tier1 - - 84 0 0.00 50 25 33.33 OR2M3 0 genome.wustl.edu 37 1 248366816 248366816 + Missense_Mutation SNP G G T TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 1 248366816 248366816 G T SNP OR2M3 ENST00000456743 human ensembl 74_37 +1 known missense c.447 p.W149C 0.092 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2M3 HGNC ENSG00000228198 tier1 - - 91 0 0.00 84 33 28.21 OR2T10 0 genome.wustl.edu 37 1 248756469 248756469 + Silent SNP A A G TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 1 248756469 248756469 A G SNP OR2T10 ENST00000330500 human ensembl 74_37 -1 known silent c.601 p.L201 0.000 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 OR2T10 HGNC ENSG00000184022 tier1 - - 68 0 0.00 53 31 36.90 OR2T10 0 genome.wustl.edu 37 1 248756934 248756934 + Missense_Mutation SNP T T G TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 1 248756934 248756934 T G SNP OR2T10 ENST00000330500 human ensembl 74_37 -1 known missense c.136 p.I46L 0.009 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 OR2T10 HGNC ENSG00000184022 tier1 - - 26 0 0.00 12 9 42.86 OR2W3 0 genome.wustl.edu 37 1 248059417 248059417 + Missense_Mutation SNP T T G TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 1 248059417 248059417 T G SNP OR2W3 ENST00000360358 human ensembl 74_37 +1 known missense c.529 p.F177V 0.999 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 OR2W3 HGNC ENSG00000238243 tier1 - - 66 0 0.00 44 20 31.25 OR4C11 0 genome.wustl.edu 37 11 55371556 55371556 + Silent SNP T T C TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 11 55371556 55371556 T C SNP OR4C11 ENST00000302231 human ensembl 74_37 -1 known silent c.294 p.Q98 0.966 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C11 HGNC ENSG00000172188 tier1 - - 32 0 0.00 40 6 13.04 OR4C46 0 genome.wustl.edu 37 11 51515371 51515371 + Silent SNP T T C TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 11 51515371 51515371 T C SNP OR4C46 ENST00000328188 human ensembl 74_37 +1 known silent c.90 p.F30 0.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C46 HGNC ENSG00000185926 tier1 - - 61 0 0.00 55 15 21.43 OR52H1 0 genome.wustl.edu 37 11 5565851 5565851 + Silent SNP T T C TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 11 5565851 5565851 T C SNP OR52H1 ENST00000322653 human ensembl 74_37 -1 known silent c.903 p.G301 0.990 prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52H1 HGNC ENSG00000181616 tier1 - - 52 0 0.00 72 14 16.28 OR5D14 0 genome.wustl.edu 37 11 55563202 55563202 + Silent SNP T T C TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 11 55563202 55563202 T C SNP OR5D14 ENST00000335605 human ensembl 74_37 +1 known silent c.171 p.F57 0.316 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5D14 HGNC ENSG00000186113 tier1 - - 89 0 0.00 132 27 16.98 OR5D14 0 genome.wustl.edu 37 11 55563513 55563513 + Missense_Mutation SNP T T A TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 11 55563513 55563513 T A SNP OR5D14 ENST00000335605 human ensembl 74_37 +1 known missense c.482 p.L161H 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5D14 HGNC ENSG00000186113 tier1 - - 113 0 0.00 150 14 8.54 OR5K4 0 genome.wustl.edu 37 3 98073592 98073592 + Frame_Shift_Del DEL A A - TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 3 98073592 98073592 A - DEL OR5K4 ENST00000354924 human ensembl 74_37 +1 known frame_shift_del c.895 p.I301fs 0.997 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5K4 HGNC ENSG00000196098 tier1 32 0 0.00 56 6 9.68 OR6F1 0 genome.wustl.edu 37 1 247876024 247876024 + Missense_Mutation SNP A A C TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 1 247876024 247876024 A C SNP OR6F1 ENST00000302084 human ensembl 74_37 -1 known missense c.34 p.F12V 0.031 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6F1 HGNC ENSG00000169214 tier1 - - 35 0 0.00 5 25 83.33 OR6K2 0 genome.wustl.edu 37 1 158670013 158670013 + Missense_Mutation SNP T T G TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 1 158670013 158670013 T G SNP OR6K2 ENST00000359610 human ensembl 74_37 -1 known missense c.430 p.T144P 0.908 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6K2 HGNC ENSG00000196171 tier1 - - 9 0 0.00 25 5 16.67 OR8K1 0 genome.wustl.edu 37 11 56114008 56114008 + Missense_Mutation SNP T T C TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 11 56114008 56114008 T C SNP OR8K1 ENST00000279783 human ensembl 74_37 +1 known missense c.494 p.L165P 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8K1 HGNC ENSG00000150261 tier1 - - 62 0 0.00 53 19 26.39 ORAI3 0 genome.wustl.edu 37 16 30964968 30964968 + Missense_Mutation SNP G G T TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 16 30964968 30964968 G T SNP ORAI3 ENST00000318663 human ensembl 74_37 +1 known missense c.691 p.A231S 0.000 pfam_CRAC_channel pfam_CRAC_channel - no_errors ORAI3 HGNC ENSG00000175938 62 0 0.00 50 3 5.66 OSGIN2 0 genome.wustl.edu 37 8 90937464 90937464 + Missense_Mutation SNP G G T TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 8 90937464 90937464 G T SNP OSGIN2 ENST00000451899 human ensembl 74_37 +1 known missense c.1354 p.A452S 1.000 NULL NULL - no_errors OSGIN2 HGNC ENSG00000164823 tier1 - - 27 0 0.00 40 35 46.67 PAX1 0 genome.wustl.edu 37 20 21687512 21687512 + Silent SNP G G A TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 20 21687512 21687512 G A SNP PAX1 ENST00000398485 human ensembl 74_37 +1 known silent c.723 p.P241 0.585 NULL pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX1 HGNC ENSG00000125813 tier1 - - 85 0 0.00 77 65 45.77 PCDH17 0 genome.wustl.edu 37 13 58208305 58208305 + Missense_Mutation SNP T T G TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 13 58208305 58208305 T G SNP PCDH17 ENST00000377918 human ensembl 74_37 +1 known missense c.1625 p.F542C 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH17 HGNC ENSG00000118946 tier1 - - 39 0 0.00 25 19 43.18 PCLO 0 genome.wustl.edu 37 7 82583544 82583544 + Missense_Mutation SNP T T C TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 7 82583544 82583544 T C SNP PCLO ENST00000333891 human ensembl 74_37 -1 known missense c.6725 p.E2242G 0.996 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 tier1 - - 30 0 0.00 32 4 11.11 PCLO 0 genome.wustl.edu 37 7 82764562 82764562 + Silent SNP A A G TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 7 82764562 82764562 A G SNP PCLO ENST00000333891 human ensembl 74_37 -1 known silent c.2304 p.S768 0.002 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 tier1 - - 62 0 0.00 34 23 40.35 PCLO 0 genome.wustl.edu 37 7 82784486 82784486 + Missense_Mutation SNP G G T TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 7 82784486 82784486 G T SNP PCLO ENST00000333891 human ensembl 74_37 -1 known missense c.1471 p.P491T 0.000 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 tier1 - - 26 0 0.00 18 5 21.74 PDE11A 0 genome.wustl.edu 37 2 178494173 178494173 + Missense_Mutation SNP G G A TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 2 178494173 178494173 G A SNP PDE11A ENST00000286063 human ensembl 74_37 -1 known missense c.2764 p.P922S 0.002 NULL pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE11A HGNC ENSG00000128655 77 0 0.00 104 7 6.31 PHYHIPL 0 genome.wustl.edu 37 10 60994157 60994157 + Missense_Mutation SNP A A G TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 10 60994157 60994157 A G SNP PHYHIPL ENST00000373880 human ensembl 74_37 +1 known missense c.200 p.K67R 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors PHYHIPL HGNC ENSG00000165443 tier1 - - 31 0 0.00 24 17 41.46 PKP1 0 genome.wustl.edu 37 1 201297884 201297884 + RNA SNP T T G TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 1 201297884 201297884 T G SNP PKP1 ENST00000477817 human ensembl 74_37 +1 known rna NULL NULL 0.037 - - - no_errors PKP1 HGNC ENSG00000081277 tier1 - - 74 0 0.00 40 34 45.95 PLCE1 0 genome.wustl.edu 37 10 96058377 96058377 + Missense_Mutation SNP G G A TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 10 96058377 96058377 G A SNP PLCE1 ENST00000260766 human ensembl 74_37 +1 known missense c.5409 p.M1803I 0.981 pfam_PLipase_C_Pinositol-sp_Y,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_Pinositol-sp_Y,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C 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_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_dom,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,smart_Ras-assoc,pfscan_C2_dom,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 tier1 - - 40 0 0.00 36 8 18.18 PLCL1 0 genome.wustl.edu 37 2 198968589 198968589 + Missense_Mutation SNP A A C TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 2 198968589 198968589 A C SNP PLCL1 ENST00000428675 human ensembl 74_37 +1 known missense c.3034 p.K1012Q 1.000 NULL pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCL1 HGNC ENSG00000115896 tier1 - - 45 0 0.00 37 16 30.19 PLCXD3 0 genome.wustl.edu 37 5 41381955 41381955 + Missense_Mutation SNP C C A TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 5 41381955 41381955 C A SNP PLCXD3 ENST00000328457 human ensembl 74_37 -1 known missense c.785 p.S262I 1.000 superfamily_PLC-like_Pdiesterase_TIM-brl pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom - no_errors PLCXD3 HGNC ENSG00000182836 tier1 - - 127 0 0.00 68 42 38.18 PLEKHM1 0 genome.wustl.edu 37 17 43545713 43545713 + Silent SNP T T C TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 17 43545713 43545713 T C SNP PLEKHM1 ENST00000430334 human ensembl 74_37 -1 known silent c.1170 p.V390 0.000 NULL pfam_Run,superfamily_Znf_FYVE_PHD,smart_Run,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Pleckstrin_homology,pfscan_Run,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors PLEKHM1 HGNC ENSG00000225190 tier1 - - 80 0 0.00 69 24 25.81 PLEKHM3 0 genome.wustl.edu 37 2 208866231 208866231 + Missense_Mutation SNP G G T TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 2 208866231 208866231 G T SNP PLEKHM3 ENST00000427836 human ensembl 74_37 -1 known missense c.133 p.L45M 0.993 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHM3 HGNC ENSG00000178385 tier1 - - 28 0 0.00 20 26 56.52 PMF1-BGLAP 0 genome.wustl.edu 37 1 156203459 156203459 + Missense_Mutation SNP C C A TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 1 156203459 156203459 C A SNP PMF1-BGLAP ENST00000368276 human ensembl 74_37 +1 known missense c.308 p.A103D 0.927 pfam_Nnf1 pfam_Nnf1 - no_errors PMF1-BGLAP HGNC ENSG00000260238 tier1 - - 19 0 0.00 53 9 14.52 POLQ 0 genome.wustl.edu 37 3 121200659 121200659 + Missense_Mutation SNP C C T TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 3 121200659 121200659 C T SNP POLQ ENST00000264233 human ensembl 74_37 -1 known missense c.5971 p.V1991M 1.000 superfamily_RNaseH-like_dom pfam_DNA-dir_DNA_pol_A_palm_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_DNA-dir_DNA_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_DNA_polymerase_A - no_errors POLQ HGNC ENSG00000051341 14 0 0.00 20 4 16.67 POLR3A 0 genome.wustl.edu 37 10 79762008 79762008 + Missense_Mutation SNP C C T TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 10 79762008 79762008 C T SNP POLR3A ENST00000372371 human ensembl 74_37 -1 known missense c.2306 p.R769Q 1.000 pfam_RNA_pol_Rpb1_4 pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,smart_RNA_pol_N - no_errors POLR3A HGNC ENSG00000148606 tier1 - - 38 0 0.00 17 35 67.31 POU6F2 0 genome.wustl.edu 37 7 39379320 39379320 + Silent SNP T T C TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 7 39379320 39379320 T C SNP POU6F2 ENST00000403058 human ensembl 74_37 +1 known silent c.591 p.P197 0.000 NULL pfam_POU_specific,pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Lambda_DNA-bd_dom,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU6F2 HGNC ENSG00000106536 51 0 0.00 35 4 10.26 PPFIA2 0 genome.wustl.edu 37 12 81675120 81675120 + Missense_Mutation SNP T T G TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 12 81675120 81675120 T G SNP PPFIA2 ENST00000549396 human ensembl 74_37 -1 known missense c.3128 p.E1043A 1.000 pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIA2 HGNC ENSG00000139220 tier1 - - 28 0 0.00 15 8 34.78 PREX2 0 genome.wustl.edu 37 8 68972921 68972921 + Missense_Mutation SNP G G C TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 8 68972921 68972921 G C SNP PREX2 ENST00000288368 human ensembl 74_37 +1 known missense c.1246 p.V416L 1.000 pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom 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 tier1 - - 38 0 0.00 52 7 11.86 PROS1 0 genome.wustl.edu 37 3 93617396 93617396 + Missense_Mutation SNP C C T TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 3 93617396 93617396 C T SNP PROS1 ENST00000394236 human ensembl 74_37 -1 known missense c.745 p.E249K 0.998 smart_EGF-like_Ca-bd_dom,smart_EG-like_dom pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,pfam_GLA_domain,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Laminin_G,prints_GLA_domain - no_errors PROS1 HGNC ENSG00000184500 tier1 - - 54 0 0.00 85 9 9.57 PRRC2B 0 genome.wustl.edu 37 9 134358095 134358095 + Splice_Site SNP A A C TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 9 134358095 134358095 A C SNP PRRC2B ENST00000357304 human ensembl 74_37 +1 known splice_site c.5176-2 e21-2 0.996 - - - no_errors PRRC2B HGNC ENSG00000130723 tier1 - - 38 0 0.00 23 14 37.84 PSMD1 0 genome.wustl.edu 37 2 232018342 232018342 + Missense_Mutation SNP A A C TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 2 232018342 232018342 A C SNP PSMD1 ENST00000308696 human ensembl 74_37 +1 known missense c.2180 p.K727T 1.000 superfamily_ARM-type_fold,pirsf_26S_Psome_Rpn2 pfam_Proteasome/cyclosome_rpt,superfamily_ARM-type_fold,pirsf_26S_Psome_Rpn2 - no_errors PSMD1 HGNC ENSG00000173692 tier1 - - 40 0 0.00 44 11 20.00 PTK2 0 genome.wustl.edu 37 8 141754888 141754888 + RNA DEL G G - TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 8 141754888 141754888 G - DEL PTK2 ENST00000518509 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors PTK2 HGNC ENSG00000169398 tier1 10 0 0.00 24 5 17.24 PTPN14 0 genome.wustl.edu 37 1 214557671 214557671 + Missense_Mutation SNP T T G TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 1 214557671 214557671 T G SNP PTPN14 ENST00000366956 human ensembl 74_37 -1 known missense c.1527 p.K509N 0.000 pirsf_Tyr_Pase_non-rcpt_typ-14/21 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_Dual-sp_phosphatase_cat-dom,superfamily_FERM_central,smart_Band_41_domain,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam - no_errors PTPN14 HGNC ENSG00000152104 tier1 - - 61 0 0.00 31 30 49.18 PTPRC 0 genome.wustl.edu 37 1 198725126 198725126 + Missense_Mutation SNP T T G TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 1 198725126 198725126 T G SNP PTPRC ENST00000442510 human ensembl 74_37 +1 known missense c.3737 p.I1246S 0.545 pirsf_Leukocyte_common_ag pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Leukocyte_common_ag,pfam_PTP_recept_N,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRC HGNC ENSG00000081237 tier1 - - 14 0 0.00 16 8 33.33 PTPRM 0 genome.wustl.edu 37 18 8253277 8253277 + Silent SNP T T G TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 18 8253277 8253277 T G SNP PTPRM ENST00000400060 human ensembl 74_37 +1 known silent c.2622 p.T874 0.261 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRM HGNC ENSG00000173482 tier1 - - 18 0 0.00 10 13 56.52 PTPRQ 0 genome.wustl.edu 37 12 80927813 80927813 + Missense_Mutation SNP A A C TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 12 80927813 80927813 A C SNP PTPRQ ENST00000266688 human ensembl 74_37 +1 known missense c.2686 p.T896P 0.904 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRQ HGNC ENSG00000139304 tier1 - - 17 0 0.00 23 5 17.86 QRICH2 0 genome.wustl.edu 37 17 74274083 74274083 + Missense_Mutation SNP G G A TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 17 74274083 74274083 G A SNP QRICH2 ENST00000262765 human ensembl 74_37 -1 known missense c.4606 p.P1536S 0.157 NULL NULL - no_errors QRICH2 HGNC ENSG00000129646 tier1 - - 30 0 0.00 10 8 44.44 RANBP3L 0 genome.wustl.edu 37 5 36271359 36271359 + Missense_Mutation SNP A A C TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 5 36271359 36271359 A C SNP RANBP3L ENST00000296604 human ensembl 74_37 -1 known missense c.146 p.F49C 0.998 NULL pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom - no_errors RANBP3L HGNC ENSG00000164188 tier1 - - 39 0 0.00 28 14 33.33 RBBP6 0 genome.wustl.edu 37 16 24583718 24583718 + Missense_Mutation SNP G G T TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 16 24583718 24583718 G T SNP RBBP6 ENST00000319715 human ensembl 74_37 +1 known missense c.5331 p.E1777D 0.883 NULL pfam_DWNN_domain,pfam_Ubox_domain,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_CCHC - no_errors RBBP6 HGNC ENSG00000122257 11 0 0.00 10 6 37.50 RBM4 0 genome.wustl.edu 37 11 66411053 66411053 + Missense_Mutation SNP G G T TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 11 66411053 66411053 G T SNP RBM4 ENST00000310092 human ensembl 74_37 +1 known missense c.545 p.R182L 1.000 NULL pfam_RRM_dom,pfam_Znf_CCHC,smart_RRM_dom,smart_Znf_CCHC,pfscan_Znf_CCHC,pfscan_RRM_dom - no_errors RBM4 HGNC ENSG00000173933 40 0 0.00 46 3 6.12 RBM45 0 genome.wustl.edu 37 2 178990805 178990805 + Missense_Mutation SNP G G T TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 2 178990805 178990805 G T SNP RBM45 ENST00000286070 human ensembl 74_37 +1 known missense c.1327 p.A443S 0.810 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM45 HGNC ENSG00000155636 tier1 - - 40 0 0.00 66 4 5.71 RFFL 0 genome.wustl.edu 37 17 33339111 33339111 + Missense_Mutation SNP G G A TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 17 33339111 33339111 G A SNP RFFL ENST00000315249 human ensembl 74_37 -1 known missense c.968 p.P323L 1.000 smart_Znf_RING,pfscan_Znf_RING superfamily_Znf_FYVE_PHD,smart_Znf_RING,pfscan_Znf_RING - no_errors RFFL HGNC ENSG00000092871 39 0 0.00 33 4 10.81 RGMA 0 genome.wustl.edu 37 15 93588423 93588423 + Silent SNP G G A TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 15 93588423 93588423 G A SNP RGMA ENST00000329082 human ensembl 74_37 -1 known silent c.1158 p.G386 0.006 pfam_RGM_C pfam_RGM_N,pfam_RGM_C - no_errors RGMA HGNC ENSG00000182175 tier1 - - 71 0 0.00 13 28 68.29 RIMBP3 0 genome.wustl.edu 37 22 20457383 20457383 + Missense_Mutation SNP G G T TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 22 20457383 20457383 G T SNP RIMBP3 ENST00000426804 human ensembl 74_37 -1 known missense c.3919 p.P1307T 0.003 NULL pfam_SH3_2,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,pfscan_SH3_domain - no_errors RIMBP3 HGNC ENSG00000196622 tier1 rs199673858 - 35 0 0.00 8 3 27.27 RIMS2 0 genome.wustl.edu 37 8 104898169 104898169 + Silent SNP T T C TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 8 104898169 104898169 T C SNP RIMS2 ENST00000406091 human ensembl 74_37 +1 known silent c.1342 p.L448 0.117 NULL pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel - no_errors RIMS2 HGNC ENSG00000176406 tier1 - - 27 0 0.00 81 5 5.75 RIMS2 0 genome.wustl.edu 37 8 105261742 105261742 + Missense_Mutation SNP A A C TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 8 105261742 105261742 A C SNP RIMS2 ENST00000406091 human ensembl 74_37 +1 known missense c.3617 p.K1206T 1.000 superfamily_C2_dom pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel - no_errors RIMS2 HGNC ENSG00000176406 tier1 - - 38 0 0.00 78 35 30.97 RIN1 0 genome.wustl.edu 37 11 66101564 66101564 + Missense_Mutation SNP G G A TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 11 66101564 66101564 G A SNP RIN1 ENST00000311320 human ensembl 74_37 -1 known missense c.1417 p.R473W 1.000 pfscan_VPS9 pfam_VPS9,pfam_Ras-assoc,smart_SH2,smart_VPS9_subgr,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SH2,pfscan_VPS9 - no_errors RIN1 HGNC ENSG00000174791 tier1 - - 19 0 0.00 24 11 31.43 ROBO2 0 genome.wustl.edu 37 3 77147238 77147238 + Silent SNP C C T TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 3 77147238 77147238 C T SNP ROBO2 ENST00000461745 human ensembl 74_37 +1 known silent c.135 p.G45 0.980 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors ROBO2 HGNC ENSG00000185008 13 0 0.00 8 6 42.86 RPS6KA1 0 genome.wustl.edu 37 1 26899743 26899743 + Missense_Mutation SNP A A T TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 1 26899743 26899743 A T SNP RPS6KA1 ENST00000531382 human ensembl 74_37 +1 known missense c.2003 p.D668V 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors RPS6KA1 HGNC ENSG00000117676 tier1 - - 29 0 0.00 9 4 30.77 RXRG 0 genome.wustl.edu 37 1 165386426 165386426 + Silent SNP G G A TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 1 165386426 165386426 G A SNP RXRG ENST00000359842 human ensembl 74_37 -1 known silent c.474 p.G158 0.992 pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Nuc_recep-AF1,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_Retinoid-X_rcpt/HNF4,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_COUP_TF - no_errors RXRG HGNC ENSG00000143171 tier1 - - 86 0 0.00 108 45 29.41 RYR2 0 genome.wustl.edu 37 1 237948142 237948142 + Missense_Mutation SNP C C T TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 1 237948142 237948142 C T SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known missense c.13148 p.S4383L 0.984 pfam_Ryanrecept_TM4-6 pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 tier1 - - 21 0 0.00 18 9 33.33 SARS 0 genome.wustl.edu 37 1 109766611 109766611 + Missense_Mutation SNP G G T TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 1 109766611 109766611 G T SNP SARS ENST00000369923 human ensembl 74_37 +1 known missense c.148 p.A50S 1.000 pfam_Ser-tRNA-synth_1_N,superfamily_tRNA-bd_arm,pirsf_Ser-tRNA-ligase_type_1,tigrfam_Ser-tRNA-ligase_type_1 pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Ser-tRNA-synth_1_N,superfamily_tRNA-bd_arm,pirsf_Ser-tRNA-ligase_type_1,pfscan_aa-tRNA-synth_II,prints_Ser-tRNA-ligase_type_1,tigrfam_Ser-tRNA-ligase_type_1 - no_errors SARS HGNC ENSG00000031698 tier1 - - 46 0 0.00 50 4 7.41 SCARF1 0 genome.wustl.edu 37 17 1548969 1548969 + Missense_Mutation SNP G G A TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 17 1548969 1548969 G A SNP SCARF1 ENST00000263071 human ensembl 74_37 -1 known missense c.23 p.P8L 0.028 NULL pfam_EGF_laminin,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom - no_errors SCARF1 HGNC ENSG00000074660 tier1 rs200018599 - 22 0 0.00 1 23 95.83 SCN1A 0 genome.wustl.edu 37 2 166848866 166848866 + Missense_Mutation SNP A A G TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 2 166848866 166848866 A G SNP SCN1A ENST00000303395 human ensembl 74_37 -1 known missense c.4919 p.L1640P 0.998 pfam_Ion_trans_dom 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 tier1 - - 74 0 0.00 95 25 20.83 SCN1A 0 genome.wustl.edu 37 2 166897743 166897743 + Missense_Mutation SNP A A C TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 2 166897743 166897743 A C SNP SCN1A ENST00000303395 human ensembl 74_37 -1 known missense c.2413 p.L805V 0.992 pfam_Ion_trans_dom 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 tier1 - - 37 0 0.00 34 12 26.09 SCN7A 0 genome.wustl.edu 37 2 167334095 167334095 + Missense_Mutation SNP A A C TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 2 167334095 167334095 A C SNP SCN7A ENST00000409855 human ensembl 74_37 -1 known missense c.112 p.L38V 0.994 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN7A HGNC ENSG00000136546 tier1 - - 42 0 0.00 46 12 20.34 SCN9A 0 genome.wustl.edu 37 2 167134735 167134735 + Missense_Mutation SNP A A C TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 2 167134735 167134735 A C SNP SCN9A ENST00000303354 human ensembl 74_37 -1 known missense c.2435 p.F812C 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN9A HGNC ENSG00000169432 tier1 - - 34 0 0.00 22 29 56.86 SEC24B 0 genome.wustl.edu 37 4 110433175 110433175 + Frame_Shift_Del DEL C C - TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 4 110433175 110433175 C - DEL SEC24B ENST00000265175 human ensembl 74_37 +1 known frame_shift_del c.1839 p.F615fs 1.000 pfam_Znf_Sec23_Sec24,superfamily_Znf_Sec23_Sec24 pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24 - no_errors SEC24B HGNC ENSG00000138802 tier1 98 0 0.00 75 47 38.52 SETDB2 0 genome.wustl.edu 37 13 50050931 50050931 + Missense_Mutation SNP A A G TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 13 50050931 50050931 A G SNP SETDB2 ENST00000317257 human ensembl 74_37 +1 known missense c.661 p.N221D 0.997 pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd pfam_SET_dom,pfam_Pre-SET_dom,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Methyl_CpG_DNA-bd,pfscan_SET_dom,pfscan_Pre-SET_dom - no_errors SETDB2 HGNC ENSG00000136169 tier1 - - 40 0 0.00 49 4 7.55 SHANK2 0 genome.wustl.edu 37 11 70331764 70331764 + Frame_Shift_Del DEL G G - TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 11 70331764 70331764 G - DEL SHANK2 ENST00000338508 human ensembl 74_37 -1 known frame_shift_del c.4637 p.P1546fs 0.976 NULL pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain - no_errors SHANK2 HGNC ENSG00000162105 tier1 29 0 0.00 36 2 5.26 SHROOM2 0 genome.wustl.edu 37 X 9900467 9900467 + Silent SNP G G T TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 X 9900467 9900467 G T SNP SHROOM2 ENST00000380913 human ensembl 74_37 +1 known silent c.3144 p.S1048 0.000 NULL pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM2 HGNC ENSG00000146950 23 0 0.00 27 7 20.59 SIM1 0 genome.wustl.edu 37 6 100841712 100841712 + Silent SNP G G A TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 6 100841712 100841712 G A SNP SIM1 ENST00000262901 human ensembl 74_37 -1 known silent c.1221 p.G407 0.018 pfam_SIM_C pfam_SIM_C,pfam_PAS_fold_3,pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_bHLH_dom - no_errors SIM1 HGNC ENSG00000112246 31 0 0.00 29 6 17.14 SLC12A4 0 genome.wustl.edu 37 16 67984933 67984933 + Missense_Mutation SNP T T G TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 16 67984933 67984933 T G SNP SLC12A4 ENST00000422611 human ensembl 74_37 -1 known missense c.1334 p.D445A 1.000 pfam_AA-permease/SLC12A_dom,tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,pfam_K/Cl_cotranspt_1/3,prints_KCL_cotranspt,prints_K/Cl_cotranspt1,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A4 HGNC ENSG00000124067 tier1 - - 30 0 0.00 28 11 28.21 SLC38A10 0 genome.wustl.edu 37 17 79256060 79256060 + Missense_Mutation SNP G G A TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 17 79256060 79256060 G A SNP SLC38A10 ENST00000374759 human ensembl 74_37 -1 known missense c.430 p.R144W 1.000 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC38A10 HGNC ENSG00000157637 tier1 - - 62 0 0.00 48 11 18.64 SLC5A10 0 genome.wustl.edu 37 17 18922878 18922878 + Missense_Mutation SNP G G A TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 17 18922878 18922878 G A SNP SLC5A10 ENST00000395647 human ensembl 74_37 +1 known missense c.1432 p.V478I 0.975 pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A10 HGNC ENSG00000154025 tier1 - - 24 0 0.00 14 35 71.43 SLC5A4 0 genome.wustl.edu 37 22 32621756 32621756 + Missense_Mutation SNP T T G TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 22 32621756 32621756 T G SNP SLC5A4 ENST00000266086 human ensembl 74_37 -1 known missense c.1335 p.Q445H 0.113 pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A4 HGNC ENSG00000100191 tier1 - - 60 0 0.00 35 26 42.62 SLC6A16 0 genome.wustl.edu 37 19 49793843 49793843 + Missense_Mutation SNP G G T TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 19 49793843 49793843 G T SNP SLC6A16 ENST00000454748 human ensembl 74_37 -1 putative missense c.1960 p.P654T 0.000 pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport - no_errors SLC6A16 HGNC ENSG00000063127 tier1 - - 33 0 0.00 28 18 39.13 SLC8A1 0 genome.wustl.edu 37 2 40656664 40656664 + Missense_Mutation SNP C C A TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 2 40656664 40656664 C A SNP SLC8A1 ENST00000332839 human ensembl 74_37 -1 known missense c.757 p.D253Y 1.000 tigrfam_Na_Ca_Ex pfam_NaCa_Exmemb,pfam_Calx_beta,smart_Calx_beta,pfscan_DnaJ_domain,prints_Na_Ca_Ex,prints_NaCa_exhngr1,tigrfam_Na_Ca_Ex - no_errors SLC8A1 HGNC ENSG00000183023 12 0 0.00 31 3 8.82 SLCO1B3 0 genome.wustl.edu 37 12 21243002 21243002 + Missense_Mutation SNP G G A TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 12 21243002 21243002 G A SNP SLCO1B3 ENST00000553473 human ensembl 74_37 +1 known missense c.2209 p.D737N 0.002 NULL pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO1B3 HGNC ENSG00000111700 tier1 - - 40 0 0.00 15 11 42.31 SLCO1B7 0 genome.wustl.edu 37 12 21207483 21207483 + Missense_Mutation SNP G G T TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 12 21207483 21207483 G T SNP SLCO1B7 ENST00000554957 human ensembl 74_37 +1 known missense c.1595 p.R532M 0.000 pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO1B7 HGNC ENSG00000205754 tier1 - - 79 0 0.00 34 24 41.38 SLITRK5 0 genome.wustl.edu 37 13 88328683 88328683 + Missense_Mutation SNP G G A TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 13 88328683 88328683 G A SNP SLITRK5 ENST00000325089 human ensembl 74_37 +1 known missense c.1040 p.R347Q 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK5 HGNC ENSG00000165300 tier1 - - 18 0 0.00 14 7 33.33 SLK 0 genome.wustl.edu 37 10 105727547 105727549 + In_Frame_Del DEL AGA AGA - TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 10 105727547 105727549 AGA - DEL SLK ENST00000369755 human ensembl 74_37 +1 known in_frame_del c.44_46 p.K19in_frame_del 1.000:0.998:1.000 superfamily_Kinase-like_dom pfam_PKK,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UVR_dom,pfscan_Prot_kinase_dom - no_errors SLK HGNC ENSG00000065613 tier1 41 0 0.00 42 6 12.50 SNCAIP 0 genome.wustl.edu 37 5 121761185 121761185 + Missense_Mutation SNP C C T TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 5 121761185 121761185 C T SNP SNCAIP ENST00000379533 human ensembl 74_37 +1 known missense c.1282 p.R428C 0.999 superfamily_Ankyrin_rpt-contain_dom,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_errors SNCAIP HGNC ENSG00000064692 tier1 - - 21 0 0.00 7 5 41.67 SNED1 0 genome.wustl.edu 37 2 242004959 242004959 + Silent SNP C C T TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 2 242004959 242004959 C T SNP SNED1 ENST00000310397 human ensembl 74_37 +1 known silent c.2958 p.N986 0.084 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_EG-like_dom,pfam_Fibronectin_type3,pfam_Nidogen_extracell_dom,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_Fibronectin_type3,superfamily_Sushi_SCR_CCP,smart_Nidogen_extracell_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,smart_Fibronectin_type3,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Sushi_SCR_CCP - no_errors SNED1 HGNC ENSG00000162804 60 0 0.00 72 4 5.26 SNHG7 0 genome.wustl.edu 37 9 139616243 139616244 + RNA DEL TG TG - TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 TG TG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 9 139616243 139616244 TG - DEL SNHG7 ENST00000414282 human ensembl 74_37 -1 known rna NULL NULL 0.024:0.099 - - - no_errors SNHG7 HGNC ENSG00000233016 tier1 39 0 0.00 17 29 63.04 SNX10 0 genome.wustl.edu 37 7 26400643 26400643 + Missense_Mutation SNP T T G TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 7 26400643 26400643 T G SNP SNX10 ENST00000446848 human ensembl 74_37 +1 known missense c.151 p.F51V 1.000 pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX10 HGNC ENSG00000086300 tier1 - - 57 0 0.00 34 10 22.22 SPAG16 0 genome.wustl.edu 37 2 215013957 215013957 + Missense_Mutation SNP A A C TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 2 215013957 215013957 A C SNP SPAG16 ENST00000331683 human ensembl 74_37 +1 known missense c.1687 p.S563R 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors SPAG16 HGNC ENSG00000144451 tier1 - - 70 0 0.00 84 31 26.96 SPANXN1 0 genome.wustl.edu 37 X 144337250 144337250 + Silent SNP G G A TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 X 144337250 144337250 G A SNP SPANXN1 ENST00000370493 human ensembl 74_37 +1 known silent c.135 p.T45 0.000 pfam_SPANX_prot pfam_SPANX_prot - no_errors SPANXN1 HGNC ENSG00000203923 tier1 - - 56 0 0.00 37 69 65.09 SPATA13 0 genome.wustl.edu 37 13 24863303 24863303 + Missense_Mutation SNP G G T TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 13 24863303 24863303 G T SNP SPATA13 ENST00000382108 human ensembl 74_37 +1 known missense c.2834 p.C945F 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors SPATA13 HGNC ENSG00000182957 tier1 - - 42 0 0.00 34 4 10.53 SPATA31A6 0 genome.wustl.edu 37 9 43625621 43625621 + Missense_Mutation SNP T T G TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 9 43625621 43625621 T G SNP SPATA31A6 ENST00000332857 human ensembl 74_37 -1 known missense c.3066 p.Q1022H 0.033 NULL NULL - no_errors SPATA31A6 HGNC ENSG00000185775 tier1 - - 46 0 0.00 55 14 20.00 SPG20 0 genome.wustl.edu 37 13 36909527 36909527 + Silent SNP A A G TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 13 36909527 36909527 A G SNP SPG20 ENST00000355182 human ensembl 74_37 -1 known silent c.441 p.T147 0.000 NULL pfam_Senescence/spartin,pfam_MIT,smart_MIT - no_errors SPG20 HGNC ENSG00000133104 tier1 - - 34 0 0.00 32 12 27.27 SPTLC3 0 genome.wustl.edu 37 20 13055028 13055028 + Missense_Mutation SNP A A C TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 20 13055028 13055028 A C SNP SPTLC3 ENST00000399002 human ensembl 74_37 +1 known missense c.490 p.N164H 1.000 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase pfam_Aminotransferase_I/II,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase - no_errors SPTLC3 HGNC ENSG00000172296 tier1 - - 116 0 0.00 211 24 10.21 SPTLC3 0 genome.wustl.edu 37 20 13098334 13098334 + Missense_Mutation SNP A A G TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 20 13098334 13098334 A G SNP SPTLC3 ENST00000399002 human ensembl 74_37 +1 known missense c.1114 p.S372G 1.000 pfam_Aminotransferase_I/II,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase pfam_Aminotransferase_I/II,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase - no_errors SPTLC3 HGNC ENSG00000172296 tier1 - - 30 0 0.00 41 12 22.64 SRRM2 0 genome.wustl.edu 37 16 2815963 2815963 + Missense_Mutation SNP C C T TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 16 2815963 2815963 C T SNP SRRM2 ENST00000301740 human ensembl 74_37 +1 known missense c.5434 p.R1812W 0.991 NULL pfam_mRNA_splic_Cwf21 - no_errors SRRM2 HGNC ENSG00000167978 tier1 - - 37 0 0.00 46 4 8.00 ST8SIA4 0 genome.wustl.edu 37 5 100191934 100191934 + Frame_Shift_Del DEL A A - TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 5 100191934 100191934 A - DEL ST8SIA4 ENST00000231461 human ensembl 74_37 -1 known frame_shift_del c.670 p.W224fs 1.000 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST8SIA4 HGNC ENSG00000113532 tier1 58 0 0.00 34 17 33.33 STON2 0 genome.wustl.edu 37 14 81743371 81743371 + Missense_Mutation SNP T T G TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 14 81743371 81743371 T G SNP STON2 ENST00000267540 human ensembl 74_37 -1 known missense c.2284 p.S762R 1.000 pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Stonin,pfscan_Clathrin_mu_C pfam_Stonin2_N,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Stonin,pfscan_Clathrin_mu_C,pfscan_SHD - no_errors STON2 HGNC ENSG00000140022 tier1 - - 58 0 0.00 36 14 28.00 STPG1 0 genome.wustl.edu 37 1 24687446 24687446 + Missense_Mutation SNP C C T TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 1 24687446 24687446 C T SNP STPG1 ENST00000337248 human ensembl 74_37 -1 known missense c.823 p.V275M 0.999 NULL NULL - no_errors STPG1 HGNC ENSG00000001460 tier1 - - 39 0 0.00 28 11 28.21 SYN2 0 genome.wustl.edu 37 3 12224813 12224813 + RNA SNP G G T TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 3 12224813 12224813 G T SNP SYN2 ENST00000425297 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors SYN2 HGNC ENSG00000157152 tier1 - - 61 0 0.00 68 4 5.56 SYNE1 0 genome.wustl.edu 37 6 152552615 152552615 + Missense_Mutation SNP T T G TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 6 152552615 152552615 T G SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.20950 p.S6984R 1.000 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 tier1 - - 49 0 0.00 57 53 48.18 TAS2R16 0 genome.wustl.edu 37 7 122635132 122635132 + Missense_Mutation SNP A A C TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 7 122635132 122635132 A C SNP TAS2R16 ENST00000249284 human ensembl 74_37 -1 known missense c.557 p.V186G 0.000 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R16 HGNC ENSG00000128519 tier1 - - 48 0 0.00 42 17 28.81 TBC1D19 0 genome.wustl.edu 37 4 26673809 26673809 + Missense_Mutation SNP G G T TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 4 26673809 26673809 G T SNP TBC1D19 ENST00000264866 human ensembl 74_37 +1 known missense c.703 p.V235F 1.000 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D19 HGNC ENSG00000109680 tier1 - - 50 0 0.00 29 12 29.27 TECTA 0 genome.wustl.edu 37 11 120998499 120998499 + Missense_Mutation SNP G G A TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 11 120998499 120998499 G A SNP TECTA ENST00000264037 human ensembl 74_37 +1 known missense c.1813 p.V605M 1.000 pfam_TIL_dom,superfamily_TIL_dom pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_ZP_dom,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_ZP_dom,pfscan_ZP_dom - no_errors TECTA HGNC ENSG00000109927 tier1 - - 69 0 0.00 61 7 10.29 TENM1 0 genome.wustl.edu 37 X 123519781 123519781 + Missense_Mutation SNP C C T TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 X 123519781 123519781 C T SNP TENM1 ENST00000422452 human ensembl 74_37 -1 known missense c.5822 p.R1941Q 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD - no_errors TENM1 HGNC ENSG00000009694 tier1 - - 34 0 0.00 37 16 30.19 THAP9 0 genome.wustl.edu 37 4 83840028 83840028 + Missense_Mutation SNP G G C TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 4 83840028 83840028 G C SNP THAP9 ENST00000302236 human ensembl 74_37 +1 known missense c.2663 p.S888T 0.492 NULL pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH - no_errors THAP9 HGNC ENSG00000168152 26 0 0.00 37 2 5.13 THBS1 0 genome.wustl.edu 37 15 39885624 39885624 + Missense_Mutation SNP T T G TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 15 39885624 39885624 T G SNP THBS1 ENST00000260356 human ensembl 74_37 +1 known missense c.3022 p.F1008V 1.000 pfam_Thrombospondin_C,superfamily_ConA-like_lec_gl_sf pfam_Thrombospondin_C,pfam_Thrombospondin_1_rpt,pfam_VWF_C,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd_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 THBS1 HGNC ENSG00000137801 tier1 - - 109 0 0.00 51 24 32.00 THEMIS 0 genome.wustl.edu 37 6 128134756 128134756 + Missense_Mutation SNP G G A TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 6 128134756 128134756 G A SNP THEMIS ENST00000543064 human ensembl 74_37 -1 known missense c.1030 p.R344W 0.991 NULL NULL - no_errors THEMIS HGNC ENSG00000172673 tier1 - - 25 0 0.00 46 8 14.81 TLE4 0 genome.wustl.edu 37 9 82321669 82321669 + Missense_Mutation SNP C C A TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 9 82321669 82321669 C A SNP TLE4 ENST00000376520 human ensembl 74_37 +1 known missense c.791 p.S264Y 0.937 NULL 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 tier1 - - 19 0 0.00 14 10 41.67 TLR4 0 genome.wustl.edu 37 9 120475582 120475582 + Silent SNP T T C TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 9 120475582 120475582 T C SNP TLR4 ENST00000355622 human ensembl 74_37 +1 known silent c.1176 p.S392 0.914 pirsf_Toll-like_receptor,smart_Leu-rich_rpt_typical-subtyp pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR4 HGNC ENSG00000136869 tier1 - - 20 0 0.00 11 10 47.62 TLR6 0 genome.wustl.edu 37 4 38829336 38829336 + Missense_Mutation SNP G G T TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 4 38829336 38829336 G T SNP TLR6 ENST00000381950 human ensembl 74_37 -1 known missense c.1759 p.L587M 0.894 pirsf_Toll-like_receptor pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,pfam_Cys-rich_flank_reg_C,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR6 HGNC ENSG00000174130 tier1 - - 70 0 0.00 49 4 7.55 TMEM5 0 genome.wustl.edu 37 12 64174918 64174918 + Missense_Mutation SNP G G A TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 12 64174918 64174918 G A SNP TMEM5 ENST00000261234 human ensembl 74_37 +1 known missense c.289 p.D97N 0.318 NULL pfam_Exostosin - no_errors TMEM5 HGNC ENSG00000118600 tier1 - - 16 0 0.00 14 13 48.15 TMPRSS5 0 genome.wustl.edu 37 11 113568120 113568120 + Missense_Mutation SNP C C T TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 11 113568120 113568120 C T SNP TMPRSS5 ENST00000299882 human ensembl 74_37 -1 known missense c.349 p.E117K 0.162 superfamily_Srcr_rcpt-rel pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,superfamily_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors TMPRSS5 HGNC ENSG00000166682 tier1 - - 19 0 0.00 34 14 29.17 TMTC4 0 genome.wustl.edu 37 13 101278362 101278362 + Missense_Mutation SNP G G T TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 13 101278362 101278362 G T SNP TMTC4 ENST00000342624 human ensembl 74_37 -1 known missense c.1549 p.Q517K 1.000 pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_1,pfam_DUF1736,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TMTC4 HGNC ENSG00000125247 tier1 - - 44 0 0.00 44 4 8.33 TNXB 0 genome.wustl.edu 37 6 32064958 32064958 + Silent SNP G G C TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 6 32064958 32064958 G C SNP TNXB ENST00000375247 human ensembl 74_37 -1 known silent c.672 p.G224 0.900 pfam_EGF_extracell,smart_EG-like_dom pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC ENSG00000168477 tier1 - - 67 0 0.00 79 29 26.85 TP53 0 genome.wustl.edu 37 17 7578212 7578212 + Nonsense_Mutation SNP G G A TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 17 7578212 7578212 G A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known nonsense c.637 p.R213* 0.893 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 tier1 - - 449 0 0.00 102 309 75.18 TPTE 0 genome.wustl.edu 37 21 11020889 11020889 + RNA SNP C C A TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 21 11020889 11020889 C A SNP TPTE ENST00000415664 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors TPTE HGNC ENSG00000166157 tier1 - - 180 0 0.00 131 47 26.40 TRPM1 0 genome.wustl.edu 37 15 31338420 31338420 + Missense_Mutation SNP A A C TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 15 31338420 31338420 A C SNP TRPM1 ENST00000542188 human ensembl 74_37 -1 known missense c.1832 p.L611R 1.000 NULL pfam_Ion_trans_dom - no_errors TRPM1 HGNC ENSG00000134160 tier1 - - 9 0 0.00 4 6 60.00 TSG101 0 genome.wustl.edu 37 11 18537669 18537669 + Missense_Mutation SNP C C G TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 11 18537669 18537669 C G SNP TSG101 ENST00000251968 human ensembl 74_37 -1 known missense c.170 p.G57A 1.000 pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD pfam_UEV_N,pfam_Steadiness_box,superfamily_UBQ-conjugating_enzyme/RWD - no_errors TSG101 HGNC ENSG00000074319 tier1 - - 35 0 0.00 40 5 11.11 TTBK1 0 genome.wustl.edu 37 6 43250725 43250725 + Missense_Mutation SNP G G T TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 6 43250725 43250725 G T SNP TTBK1 ENST00000259750 human ensembl 74_37 +1 known missense c.2247 p.E749D 0.754 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TTBK1 HGNC ENSG00000146216 14 0 0.00 47 5 9.62 U2SURP 0 genome.wustl.edu 37 3 142747238 142747238 + Missense_Mutation SNP C C T TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 3 142747238 142747238 C T SNP U2SURP ENST00000473835 human ensembl 74_37 +1 known missense c.1436 p.S479F 1.000 superfamily_Surp,smart_Surp pfam_Surp,pfam_RRM_dom,superfamily_Surp,superfamily_ENTH_VHS,smart_RRM_dom,smart_Surp,smart_CID_dom,pfscan_Surp,pfscan_RRM_dom - no_errors U2SURP HGNC ENSG00000163714 tier1 - - 41 0 0.00 68 5 6.85 UBE2N 0 genome.wustl.edu 37 12 93804925 93804925 + Missense_Mutation SNP C C T TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 12 93804925 93804925 C T SNP UBE2N ENST00000318066 human ensembl 74_37 -1 known missense c.181 p.E61K 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 UBE2N HGNC ENSG00000177889 tier1 - - 38 0 0.00 31 30 49.18 UBE2W 0 genome.wustl.edu 37 8 74791117 74791117 + Frame_Shift_Del DEL C C - TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 8 74791117 74791117 C 0 DEL UBE2W ENST00000419880 human ensembl 74_37 -1 known frame_shift_del c.28 p.A10fs 1.000 NULL pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2W HGNC ENSG00000104343 70 0 0.00 74 8 9.76 UBE3B 0 genome.wustl.edu 37 12 109937476 109937476 + Missense_Mutation SNP T T A TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 12 109937476 109937476 T A SNP UBE3B ENST00000342494 human ensembl 74_37 +1 known missense c.979 p.L327I 0.936 NULL pfam_HECT,pfam_IQ_motif_EF-hand-BS,superfamily_HECT,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,smart_HECT,pfscan_HECT,pfscan_IQ_motif_EF-hand-BS - no_errors UBE3B HGNC ENSG00000151148 tier1 - - 65 0 0.00 91 14 13.33 UNC13A 0 genome.wustl.edu 37 19 17758183 17758183 + Silent SNP G G T TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 19 17758183 17758183 G T SNP UNC13A ENST00000428389 human ensembl 74_37 -1 known silent c.2199 p.I733 1.000 NULL pfam_Munc13_subgr_dom-2,pfam_C2_dom,pfam_Ca-dep_secretion_activator,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13A HGNC ENSG00000130477 34 0 0.00 40 4 9.09 VEPH1 0 genome.wustl.edu 37 3 157188234 157188234 + Missense_Mutation SNP T T A TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 3 157188234 157188234 T A SNP VEPH1 ENST00000362010 human ensembl 74_37 -1 known missense c.223 p.I75F 0.994 superfamily_ARM-type_fold pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors VEPH1 HGNC ENSG00000197415 tier1 - - 80 0 0.00 86 16 15.69 VPS35 0 genome.wustl.edu 37 16 46710559 46710559 + Missense_Mutation SNP G G A TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 16 46710559 46710559 G A SNP VPS35 ENST00000299138 human ensembl 74_37 -1 known missense c.850 p.R284W 1.000 pfam_VPS35,superfamily_ARM-type_fold pfam_VPS35,superfamily_ARM-type_fold - no_errors VPS35 HGNC ENSG00000069329 tier1 - - 36 0 0.00 46 24 34.29 VWA7 0 genome.wustl.edu 37 6 31741184 31741184 + Missense_Mutation SNP C C T TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 6 31741184 31741184 C T SNP VWA7 ENST00000375686 human ensembl 74_37 -1 known missense c.752 p.R251Q 0.083 NULL NULL - no_errors VWA7 HGNC ENSG00000204396 tier1 - - 52 0 0.00 85 28 24.78 WDR17 0 genome.wustl.edu 37 4 177046415 177046415 + Silent SNP T T C TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 4 177046415 177046415 T C SNP WDR17 ENST00000280190 human ensembl 74_37 +1 known silent c.771 p.S257 0.817 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR17 HGNC ENSG00000150627 tier1 - - 51 0 0.00 32 12 27.27 WDR17 0 genome.wustl.edu 37 4 177052846 177052846 + Missense_Mutation SNP T T G TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 4 177052846 177052846 T G SNP WDR17 ENST00000280190 human ensembl 74_37 +1 known missense c.1127 p.L376R 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR17 HGNC ENSG00000150627 tier1 - - 68 0 0.00 42 35 45.45 WNK1 0 genome.wustl.edu 37 12 1005335 1005335 + Silent SNP G G T TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 12 1005335 1005335 G T SNP WNK1 ENST00000530271 human ensembl 74_37 +1 known silent c.7176 p.V2392 0.001 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors WNK1 HGNC ENSG00000060237 46 0 0.00 33 2 5.71 XKR4 0 genome.wustl.edu 37 8 56015128 56015128 + Missense_Mutation SNP A A G TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 8 56015128 56015128 A G SNP XKR4 ENST00000327381 human ensembl 74_37 +1 known missense c.80 p.H27R 1.000 NULL pfam_Transport_prot_XK - no_errors XKR4 HGNC ENSG00000206579 tier1 - - 21 0 0.00 23 5 17.86 XRCC6 0 genome.wustl.edu 37 22 42057349 42057349 + Missense_Mutation SNP G G A TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 22 42057349 42057349 G A SNP XRCC6 ENST00000359308 human ensembl 74_37 +1 known missense c.1537 p.A513T 0.797 pirsf_Ku70,pfam_Ku_C,superfamily_SPOC_like_C_dom,tigrfam_Ku70 pirsf_Ku70,pfam_Ku_N,pfam_Ku70/Ku80_beta-barrel_dom,pfam_Ku_C,pfam_SAP_dom,superfamily_SPOC_like_C_dom,smart_Ku70/Ku80_beta-barrel_dom,smart_SAP_dom,pfscan_SAP_dom,tigrfam_Ku70 - no_errors XRCC6 HGNC ENSG00000196419 tier1 rs61754572 - 66 0 0.00 47 18 27.69 YAF2 0 genome.wustl.edu 37 12 42629563 42629563 + RNA DEL A A - TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 12 42629563 42629563 A - DEL YAF2 ENST00000541702 human ensembl 74_37 -1 known rna NULL NULL 0.986 - - - no_errors YAF2 HGNC ENSG00000015153 tier1 16 0 0.00 23 4 14.81 ZBED6 0 genome.wustl.edu 37 1 203769532 203769532 + Missense_Mutation SNP G G T TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 1 203769532 203769532 G T SNP ZBED6 ENST00000550078 human ensembl 74_37 +1 known missense c.2882 p.S961I 0.998 NULL pfam_Znf_BED_prd,pfam_HATC_dom_C,superfamily_RNaseH-like_dom,smart_Znf_BED_prd,pfscan_Znf_BED_prd - no_errors ZBED6 HGNC ENSG00000257315 tier1 - - 46 0 0.00 59 4 6.35 ZCCHC5 0 genome.wustl.edu 37 X 77913151 77913151 + Missense_Mutation SNP A A C TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 X 77913151 77913151 A C SNP ZCCHC5 ENST00000321110 human ensembl 74_37 -1 known missense c.767 p.V256G 0.011 NULL pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC5 HGNC ENSG00000179300 tier1 - - 17 0 0.00 29 29 50.00 ZFAND4 0 genome.wustl.edu 37 10 46143749 46143749 + Missense_Mutation SNP G G A TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 10 46143749 46143749 G A SNP ZFAND4 ENST00000344646 human ensembl 74_37 -1 known missense c.562 p.R188C 0.000 NULL pfam_Ubiquitin_dom,pfam_Znf_AN1,smart_Ubiquitin_dom,smart_Znf_AN1,pfscan_Znf_AN1,pfscan_Ubiquitin_supergroup,prints_Ubiquitin - no_errors ZFAND4 HGNC ENSG00000172671 tier1 rs146833659 - 33 0 0.00 22 10 31.25 ZFHX4 0 genome.wustl.edu 37 8 77690559 77690559 + Missense_Mutation SNP A A C TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 8 77690559 77690559 A C SNP ZFHX4 ENST00000521891 human ensembl 74_37 +1 known missense c.3209 p.K1070T 1.000 smart_Znf_U1,smart_Znf_C2H2-like 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 tier1 - - 48 0 0.00 69 14 16.87 ZMAT1 0 genome.wustl.edu 37 X 101138901 101138901 + Missense_Mutation SNP T T G TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 X 101138901 101138901 T G SNP ZMAT1 ENST00000372782 human ensembl 74_37 -1 known missense c.1498 p.S500R 0.978 NULL superfamily_Asn/Gln_tRNA_amidoTrfrase-rel,smart_Znf_U1,smart_Znf_C2H2-like - no_errors ZMAT1 HGNC ENSG00000166432 tier1 - - 28 0 0.00 31 26 45.61 ZMAT1 0 genome.wustl.edu 37 X 101138908 101138908 + Silent SNP T T A TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 X 101138908 101138908 T A SNP ZMAT1 ENST00000372782 human ensembl 74_37 -1 known silent c.1491 p.V497 0.000 NULL superfamily_Asn/Gln_tRNA_amidoTrfrase-rel,smart_Znf_U1,smart_Znf_C2H2-like - no_errors ZMAT1 HGNC ENSG00000166432 tier1 - - 27 0 0.00 30 26 46.43 ZMYND11 0 genome.wustl.edu 37 10 283566 283566 + Silent SNP G G A TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 10 283566 283566 G A SNP ZMYND11 ENST00000381591 human ensembl 74_37 +1 known silent c.558 p.P186 0.258 pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain pfam_PWWP_dom,pfam_Bromodomain,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP_dom,pfscan_PWWP_dom,pfscan_Znf_MYND,pfscan_Znf_PHD-finger,pfscan_Bromodomain - no_errors ZMYND11 HGNC ENSG00000015171 tier1 - - 33 0 0.00 34 11 24.44 ZNF112 0 genome.wustl.edu 37 19 44832455 44832455 + Nonsense_Mutation SNP G G A TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 19 44832455 44832455 G A SNP ZNF112 ENST00000536500 human ensembl 74_37 -1 known nonsense c.1924 p.Q642* 0.442 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF112 HGNC ENSG00000062370 tier1 - - 69 0 0.00 85 30 26.09 ZNF208 0 genome.wustl.edu 37 19 22155862 22155862 + Silent SNP A A G TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 19 22155862 22155862 A G SNP ZNF208 ENST00000397126 human ensembl 74_37 -1 novel silent c.1974 p.I658 0.126 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 ZNF208 HGNC ENSG00000160321 tier1 - - 73 0 0.00 5 48 90.57 ZNF329 0 genome.wustl.edu 37 19 58640556 58640556 + Silent SNP G G A TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 19 58640556 58640556 G A SNP ZNF329 ENST00000358067 human ensembl 74_37 -1 known silent c.315 p.P105 0.002 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF329 HGNC ENSG00000181894 tier1 - - 28 0 0.00 65 21 24.42 ZNF451 0 genome.wustl.edu 37 6 56966830 56966830 + Missense_Mutation SNP G G A TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 6 56966830 56966830 G A SNP ZNF451 ENST00000370708 human ensembl 74_37 +1 known missense c.1616 p.R539Q 1.000 NULL pfam_LAP2alpha - no_errors ZNF451 HGNC ENSG00000112200 tier1 - - 22 0 0.00 21 14 40.00 ZNF469 0 genome.wustl.edu 37 16 88496484 88496484 + Missense_Mutation SNP C C T TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 16 88496484 88496484 C T SNP ZNF469 ENST00000437464 human ensembl 74_37 +1 known missense c.2606 p.A869V 0.026 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF469 HGNC ENSG00000225614 tier1 - - 21 0 0.00 21 7 25.00 ZNF512B 0 genome.wustl.edu 37 20 62598760 62598760 + Missense_Mutation SNP C C T TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 20 62598760 62598760 C T SNP ZNF512B ENST00000217130 human ensembl 74_37 -1 known missense c.238 p.E80K 0.995 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF512B HGNC ENSG00000196700 tier1 - - 67 0 0.00 92 26 22.03 ZNF561 0 genome.wustl.edu 37 19 9721115 9721115 + Missense_Mutation SNP G G A TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 19 9721115 9721115 G A SNP ZNF561 ENST00000302851 human ensembl 74_37 -1 known missense c.1222 p.R408C 0.003 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 ZNF561 HGNC ENSG00000171469 tier1 - - 48 0 0.00 13 45 77.59 ZNF577 0 genome.wustl.edu 37 19 52383627 52383628 + Frame_Shift_Ins INS - - T TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 19 52383627 52383628 - T INS ZNF577 ENST00000301399 human ensembl 74_37 -1 known frame_shift_ins c.9_8 p.N3fs 0.000:0.000 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 ZNF577 HGNC ENSG00000161551 tier1 19 0 0.00 28 7 20.00 ZNF585B 0 genome.wustl.edu 37 19 37681019 37681019 + Missense_Mutation SNP A A T TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 19 37681019 37681019 A T SNP ZNF585B ENST00000532828 human ensembl 74_37 -1 known missense c.106 p.F36I 0.990 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box 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 ZNF585B HGNC ENSG00000245680 tier1 - - 50 0 0.00 91 20 18.02 ZNF648 0 genome.wustl.edu 37 1 182026619 182026619 + Missense_Mutation SNP G G A TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 1 182026619 182026619 G A SNP ZNF648 ENST00000339948 human ensembl 74_37 -1 novel missense c.527 p.A176V 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF648 HGNC ENSG00000179930 tier1 - - 30 0 0.00 32 19 37.25 ZNF703 0 genome.wustl.edu 37 8 37556150 37556150 + Nonsense_Mutation SNP T T G TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 8 37556150 37556150 T G SNP ZNF703 ENST00000331569 human ensembl 74_37 +1 known nonsense c.1731 p.Y577* 0.997 NULL pfam_Tscrpt_rep_NocA-like,pfscan_Znf_C2H2 - no_errors ZNF703 HGNC ENSG00000183779 tier1 - - 33 0 0.00 33 14 29.79 ZSCAN5A 0 genome.wustl.edu 37 19 56736039 56736039 + Missense_Mutation SNP T T G TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a8380cd5-4750-4dc4-a922-41d57d2ecf1d 1f4ab858-e433-48b0-8984-b2ac05962303 19 56736039 56736039 T G SNP ZSCAN5A ENST00000391713 human ensembl 74_37 -1 known missense c.377 p.K126T 0.017 superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN5A HGNC ENSG00000131848 tier1 - - 148 0 0.00 136 25 15.53