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 AARS 0 genome.wustl.edu 37 16 70301615 70301615 + Missense_Mutation SNP C C T TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 16 70301615 70301615 C T SNP AARS ENST00000261772 human ensembl 74_37 -1 known missense c.1169 p.R390H 1.000 pfam_Ala-tRNA-synth_IIc_N,superfamily_Ala-tRNA-ligase_IIc_anticod-bd,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-lgiase_IIc pfam_Ala-tRNA-synth_IIc_N,pfam_tRNA_SAD,pfam_Pesterase_DHHA1,superfamily_Ala-tRNA-ligase_IIc_anticod-bd,superfamily_Thr/Ala-tRNA-synth_IIc_edit,smart_tRNA_SAD,prints_Ala-tRNA-lgiase_IIc,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-lgiase_IIc - no_errors AARS HGNC ENSG00000090861 tier1 - - 41 0 0.00 21 30 58.82 AARS2 0 genome.wustl.edu 37 6 44274691 44274691 + Missense_Mutation SNP C C T TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 6 44274691 44274691 C T SNP AARS2 ENST00000244571 human ensembl 74_37 -1 known missense c.1118 p.G373D 1.000 pfam_Ala-tRNA-synth_IIc_N,superfamily_Ala-tRNA-ligase_IIc_anticod-bd,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-lgiase_IIc pfam_Ala-tRNA-synth_IIc_N,pfam_tRNA_SAD,superfamily_Ala-tRNA-ligase_IIc_anticod-bd,superfamily_Thr/Ala-tRNA-synth_IIc_edit,smart_tRNA_SAD,prints_Ala-tRNA-lgiase_IIc,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-lgiase_IIc - no_errors AARS2 HGNC ENSG00000124608 60 0 0.00 51 4 7.27 ABCC12 0 genome.wustl.edu 37 16 48125076 48125076 + Silent SNP C C T TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 16 48125076 48125076 C T SNP ABCC12 ENST00000311303 human ensembl 74_37 -1 known silent c.3240 p.T1080 1.000 superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC12 HGNC ENSG00000140798 tier1 - - 17 0 0.00 16 8 33.33 ACSS2 0 genome.wustl.edu 37 20 33508926 33508926 + Missense_Mutation SNP G G T TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 20 33508926 33508926 G T SNP ACSS2 ENST00000253382 human ensembl 74_37 +1 known missense c.1300 p.D434Y 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSS2 HGNC ENSG00000131069 28 0 0.00 27 2 6.90 ACTBL2 0 genome.wustl.edu 37 5 56778129 56778129 + Missense_Mutation SNP C C T TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 5 56778129 56778129 C T SNP ACTBL2 ENST00000423391 human ensembl 74_37 -1 known missense c.406 p.A136T 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTBL2 HGNC ENSG00000169067 tier1 - - 31 0 0.00 26 19 42.22 ACTG2 0 genome.wustl.edu 37 2 74143777 74143777 + Missense_Mutation SNP G G A TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 2 74143777 74143777 G A SNP ACTG2 ENST00000345517 human ensembl 74_37 +1 known missense c.872 p.R291H 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTG2 HGNC ENSG00000163017 48 0 0.00 57 4 6.56 ACVR1 0 genome.wustl.edu 37 2 158634691 158634691 + Silent SNP G G T TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 2 158634691 158634691 G T SNP ACVR1 ENST00000263640 human ensembl 74_37 -1 known silent c.495 p.G165 0.664 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_TGFB_receptor,pfscan_Prot_kinase_dom - no_errors ACVR1 HGNC ENSG00000115170 49 0 0.00 70 4 5.41 ADAM21 0 genome.wustl.edu 37 14 70924602 70924602 + Missense_Mutation SNP T T G TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 14 70924602 70924602 T G SNP ADAM21 ENST00000267499 human ensembl 74_37 +1 known missense c.386 p.F129C 0.000 pfam_Peptidase_M12B_N pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,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 ADAM21 HGNC ENSG00000139985 tier1 rs72735759 - 40 0 0.00 31 4 11.43 ADAMTS19 0 genome.wustl.edu 37 5 128984637 128984637 + Missense_Mutation SNP T T G TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 5 128984637 128984637 T G SNP ADAMTS19 ENST00000274487 human ensembl 74_37 +1 known missense c.2132 p.L711R 0.992 NULL 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 - - 66 0 0.00 16 26 61.90 ADAR 0 genome.wustl.edu 37 1 154573584 154573584 + Missense_Mutation SNP C C G TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 1 154573584 154573584 C G SNP ADAR ENST00000292205 human ensembl 74_37 -1 known missense c.1663 p.A555P 0.992 pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom pfam_A_deamin,pfam_dsRNA_A_deaminase,pfam_dsRNA-bd_dom,smart_dsRNA_A_deaminase,smart_dsRNA-bd_dom,smart_A_deamin,pfscan_dsRNA-bd_dom,pfscan_dsRNA_A_deaminase,pfscan_A_deamin - no_errors ADAR HGNC ENSG00000160710 tier1 - - 48 0 0.00 32 26 44.83 ALDH3B1 0 genome.wustl.edu 37 11 67789291 67789291 + Silent SNP C C T TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 11 67789291 67789291 C T SNP ALDH3B1 ENST00000007633 human ensembl 74_37 +1 known silent c.897 p.C299 0.614 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 ALDH3B1 HGNC ENSG00000006534 tier1 - - 71 0 0.00 68 35 33.65 AMBRA1 0 genome.wustl.edu 37 11 46568609 46568609 + RNA DEL A A - TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 11 46568609 46568609 A - DEL AMBRA1 ENST00000524783 human ensembl 74_37 -1 known rna NULL NULL 0.881 - - - no_errors AMBRA1 HGNC ENSG00000110497 tier1 30 0 0.00 25 3 10.71 AMPD2 0 genome.wustl.edu 37 1 110170831 110170831 + Missense_Mutation SNP C C T TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 1 110170831 110170831 C T SNP AMPD2 ENST00000256578 human ensembl 74_37 +1 known missense c.1369 p.R457W 0.995 pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase - no_errors AMPD2 HGNC ENSG00000116337 14 0 0.00 21 3 12.50 AMPH 0 genome.wustl.edu 37 7 38468079 38468079 + RNA SNP T T G TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 7 38468079 38468079 T G SNP AMPH ENST00000471913 human ensembl 74_37 -1 known rna NULL NULL 0.099 - - - no_errors AMPH HGNC ENSG00000078053 tier1 - - 46 0 0.00 38 20 34.48 ANGEL2 0 genome.wustl.edu 37 1 213178473 213178473 + Missense_Mutation SNP T T C TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 1 213178473 213178473 T C SNP ANGEL2 ENST00000366962 human ensembl 74_37 -1 known missense c.1036 p.I346V 0.030 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase - no_errors ANGEL2 HGNC ENSG00000174606 tier1 rs200576994 - 56 0 0.00 46 28 37.84 ARCN1 0 genome.wustl.edu 37 11 118452049 118452049 + Missense_Mutation SNP G G A TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 11 118452049 118452049 G A SNP ARCN1 ENST00000264028 human ensembl 74_37 +1 known missense c.92 p.G31D 1.000 pfam_AP_mu_sigma_su,superfamily_Longin-like_dom pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pfscan_Clathrin_mu_C - no_errors ARCN1 HGNC ENSG00000095139 tier1 - - 53 0 0.00 24 26 52.00 ARHGEF25 0 genome.wustl.edu 37 12 58007066 58007066 + Missense_Mutation SNP C C A TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 12 58007066 58007066 C A SNP ARHGEF25 ENST00000333972 human ensembl 74_37 +1 known missense c.449 p.A150D 0.999 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF25 HGNC ENSG00000240771 tier1 - - 28 0 0.00 22 22 50.00 ATP8B3 0 genome.wustl.edu 37 19 1806659 1806659 + Missense_Mutation SNP G G T TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 19 1806659 1806659 G T SNP ATP8B3 ENST00000539485 human ensembl 74_37 -1 known missense c.645 p.N215K 1.000 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP8B3 HGNC ENSG00000130270 68 0 0.00 75 4 5.06 BAI3 0 genome.wustl.edu 37 6 69653782 69653782 + Missense_Mutation SNP G G T TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 6 69653782 69653782 G T SNP BAI3 ENST00000370598 human ensembl 74_37 +1 known missense c.1091 p.G364V 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like - no_errors BAI3 HGNC ENSG00000135298 56 0 0.00 73 4 5.19 BEND4 0 genome.wustl.edu 37 4 42145546 42145548 + In_Frame_Del DEL TCC TCC - TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 TCC TCC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 4 42145546 42145548 TCC - DEL BEND4 ENST00000502486 human ensembl 74_37 -1 known in_frame_del c.953_951 p.E317in_frame_del 1.000:1.000:1.000 NULL pfam_BEN_domain - no_errors BEND4 HGNC ENSG00000188848 tier1 45 0 0.00 27 2 6.90 BMS1P8 0 genome.wustl.edu 37 16 33489831 33489831 + RNA SNP T T G TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 16 33489831 33489831 T G SNP BMS1P8 ENST00000567036 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors BMS1P8 HGNC ENSG00000260518 tier1 - - 30 0 0.00 39 6 13.33 BOD1L1 0 genome.wustl.edu 37 4 13603728 13603728 + Missense_Mutation SNP C C T TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 4 13603728 13603728 C T SNP BOD1L1 ENST00000040738 human ensembl 74_37 -1 known missense c.4796 p.G1599E 0.998 NULL NULL - no_errors BOD1L1 HGNC ENSG00000038219 22 0 0.00 14 2 12.50 BRCA1 0 genome.wustl.edu 37 17 41223241 41223241 + Frame_Shift_Del DEL G G - TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 17 41223241 41223241 G - DEL BRCA1 ENST00000471181 human ensembl 74_37 -1 known frame_shift_del c.4753 p.L1585fs 0.104 pirsf_BRCA1 pirsf_BRCA1,pfam_BRCT_dom,pfam_Znf_C3HC4_RING-type,superfamily_BRCT_dom,smart_Znf_RING,smart_BRCT_dom,prints_BRCA1,pfscan_BRCT_dom,pfscan_Znf_RING - no_errors BRCA1 HGNC ENSG00000012048 tier1 55 0 0.00 19 2 9.52 C11orf21 0 genome.wustl.edu 37 11 2321753 2321753 + Missense_Mutation SNP G G T TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 11 2321753 2321753 G T SNP C11orf21 ENST00000456145 human ensembl 74_37 -1 known missense c.282 p.D94E 0.000 NULL NULL - no_errors C11orf21 HGNC ENSG00000110665 58 0 0.00 46 4 8.00 C21orf2 0 genome.wustl.edu 37 21 45751827 45751828 + Frame_Shift_Del DEL CT CT - TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 21 45751827 45751828 CT - DEL C21orf2 ENST00000339818 human ensembl 74_37 -1 known frame_shift_del c.444_443 p.E148fs 0.003:0.003 NULL smart_U2A'_phosphoprotein32A_C - no_errors C21orf2 HGNC ENSG00000160226 tier1 21 0 0.00 13 10 43.48 C4orf17 0 genome.wustl.edu 37 4 100443715 100443715 + Missense_Mutation SNP G G T TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 4 100443715 100443715 G T SNP C4orf17 ENST00000326581 human ensembl 74_37 +1 known missense c.186 p.L62F 0.004 NULL NULL - no_errors C4orf17 HGNC ENSG00000138813 tier1 - - 57 0 0.00 80 5 5.88 C4orf50 0 genome.wustl.edu 37 4 5975443 5975444 + Frame_Shift_Del DEL GA GA - TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 GA GA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 4 5975443 5975444 GA - DEL C4orf50 ENST00000531445 human ensembl 74_37 -1 known frame_shift_del c.1773_1772 p.L591fs 0.001:0.023 NULL NULL - no_errors C4orf50 HGNC ENSG00000181215 tier1 30 0 0.00 37 2 5.13 CABIN1 0 genome.wustl.edu 37 22 24460579 24460579 + Missense_Mutation SNP G G T TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 22 24460579 24460579 G T SNP CABIN1 ENST00000263119 human ensembl 74_37 +1 known missense c.1966 p.G656W 0.038 NULL pfam_MEF2_binding,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CABIN1 HGNC ENSG00000099991 37 0 0.00 43 4 8.51 CACNA1D 0 genome.wustl.edu 37 3 53804502 53804502 + Missense_Mutation SNP G G T TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 3 53804502 53804502 G T SNP CACNA1D ENST00000288139 human ensembl 74_37 +1 known missense c.4027 p.V1343L 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 - - 38 0 0.00 43 4 8.51 CALD1 0 genome.wustl.edu 37 7 134653465 134653465 + RNA SNP G G A TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 7 134653465 134653465 G A SNP CALD1 ENST00000466704 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CALD1 HGNC ENSG00000122786 tier1 - - 40 0 0.00 27 25 48.08 CARD8 0 genome.wustl.edu 37 19 48735737 48735737 + Missense_Mutation SNP G G T TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 19 48735737 48735737 G T SNP CARD8 ENST00000391898 human ensembl 74_37 -1 known missense c.364 p.Q122K 0.000 NULL pfam_CARD,superfamily_DEATH-like_dom,pfscan_CARD - no_errors CARD8 HGNC ENSG00000105483 tier1 - - 66 0 0.00 64 4 5.88 CC2D2A 0 genome.wustl.edu 37 4 15480941 15480941 + Missense_Mutation SNP A A G TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 4 15480941 15480941 A G SNP CC2D2A ENST00000438599 human ensembl 74_37 +1 known missense c.218 p.K73R 0.000 NULL NULL - no_errors CC2D2A HGNC ENSG00000048342 tier1 - - 30 0 0.00 31 11 26.19 CCDC175 0 genome.wustl.edu 37 14 60039431 60039431 + Missense_Mutation SNP C C T TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 14 60039431 60039431 C T SNP CCDC175 ENST00000281581 human ensembl 74_37 -1 known missense c.344 p.R115K 0.000 NULL superfamily_Prefoldin - no_errors CCDC175 HGNC ENSG00000151838 tier1 - - 52 0 0.00 58 36 38.30 CCDC87 0 genome.wustl.edu 37 11 66359702 66359702 + Frame_Shift_Del DEL T T - TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 11 66359702 66359702 T - DEL CCDC87 ENST00000333861 human ensembl 74_37 -1 known frame_shift_del c.785 p.K262fs 0.002 NULL pfam_MAP65_Ase1_PRC1 - no_errors CCDC87 HGNC ENSG00000182791 tier1 32 0 0.00 32 2 5.88 CCNA1 0 genome.wustl.edu 37 13 37014283 37014283 + Missense_Mutation SNP G G A TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 13 37014283 37014283 G A SNP CCNA1 ENST00000255465 human ensembl 74_37 +1 known missense c.1061 p.R354Q 0.000 pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E pfam_Cyclin_N,pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E - no_errors CCNA1 HGNC ENSG00000133101 tier1 - - 74 0 0.00 52 19 26.76 CD163 0 genome.wustl.edu 37 12 7640477 7640477 + Missense_Mutation SNP C C T TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 12 7640477 7640477 C T SNP CD163 ENST00000359156 human ensembl 74_37 -1 known missense c.1627 p.E543K 1.000 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_SRCR,pfscan_SRCR - no_errors CD163 HGNC ENSG00000177575 tier1 - - 42 0 0.00 18 12 38.71 CDH1 0 genome.wustl.edu 37 16 68849430 68849430 + Nonsense_Mutation SNP G G T TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 16 68849430 68849430 G T SNP CDH1 ENST00000261769 human ensembl 74_37 +1 known nonsense c.1333 p.E445* 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH1 HGNC ENSG00000039068 tier1 - - 69 0 0.00 66 4 5.71 CDS1 0 genome.wustl.edu 37 4 85556475 85556475 + Frame_Shift_Del DEL T T - TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 4 85556475 85556475 T 0 DEL CDS1 ENST00000295887 human ensembl 74_37 +1 known frame_shift_del c.781 p.F263fs 1.000 pfam_PC_trans,pirsf_PC_Trfase_euk pfam_PC_trans,pirsf_PC_Trfase_euk - no_errors CDS1 HGNC ENSG00000163624 47 0 0.00 75 7 8.54 CHD2 0 genome.wustl.edu 37 15 93563494 93563494 + Missense_Mutation SNP C C T TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 15 93563494 93563494 C T SNP CHD2 ENST00000557381 human ensembl 74_37 +1 putative missense c.5159 p.A1720V 0.619 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD2 HGNC ENSG00000173575 17 0 0.00 24 4 14.29 CHRM2 0 genome.wustl.edu 37 7 136700655 136700655 + Missense_Mutation SNP G G C TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 7 136700655 136700655 G C SNP CHRM2 ENST00000320658 human ensembl 74_37 +1 known missense c.1043 p.G348A 0.999 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M2_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M2_rcpt,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn - no_errors CHRM2 HGNC ENSG00000181072 tier1 - - 58 0 0.00 46 15 24.59 CHST4 0 genome.wustl.edu 37 16 71571633 71571633 + Silent SNP C C T TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 16 71571633 71571633 C T SNP CHST4 ENST00000338482 human ensembl 74_37 +1 known silent c.1053 p.G351 0.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase - no_errors CHST4 HGNC ENSG00000140835 26 0 0.00 37 4 9.76 CLEC3A 0 genome.wustl.edu 37 16 78062018 78062018 + Missense_Mutation SNP C C A TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 16 78062018 78062018 C A SNP CLEC3A ENST00000299642 human ensembl 74_37 +1 known missense c.157 p.L53M 1.000 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CLEC3A HGNC ENSG00000166509 tier1 - - 69 0 0.00 45 18 28.57 COA1 0 genome.wustl.edu 37 7 43678967 43678967 + RNA SNP G G A TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 7 43678967 43678967 G A SNP COA1 ENST00000488813 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors COA1 HGNC ENSG00000106603 tier1 - - 10 0 0.00 3 5 62.50 COL6A2 0 genome.wustl.edu 37 21 47544826 47544826 + Missense_Mutation SNP G G A TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 21 47544826 47544826 G A SNP COL6A2 ENST00000300527 human ensembl 74_37 +1 known missense c.1762 p.G588S 1.000 NULL pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A2 HGNC ENSG00000142173 tier1 rs139488626 - 51 0 0.00 34 12 26.09 CRTC1 0 genome.wustl.edu 37 19 18882281 18882281 + Silent SNP C C T TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 19 18882281 18882281 C T SNP CRTC1 ENST00000338797 human ensembl 74_37 +1 known silent c.1398 p.S466 0.997 NULL NULL - no_errors CRTC1 HGNC ENSG00000105662 tier1 - - 56 0 0.00 58 21 26.25 CSMD1 0 genome.wustl.edu 37 8 2876172 2876172 + Missense_Mutation SNP A A C TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 8 2876172 2876172 A C SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known missense c.7859 p.V2620G 0.998 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 CSMD1 HGNC ENSG00000183117 tier1 - - 69 0 0.00 69 17 19.77 CTR9 0 genome.wustl.edu 37 11 10773002 10773002 + Missense_Mutation SNP G G A TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 11 10773002 10773002 G A SNP CTR9 ENST00000361367 human ensembl 74_37 +1 known missense c.43 p.E15K 1.000 NULL pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CTR9 HGNC ENSG00000198730 tier1 - - 32 0 0.00 31 12 27.91 CTR9 0 genome.wustl.edu 37 11 10787949 10787949 + Missense_Mutation SNP G G A TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 11 10787949 10787949 G A SNP CTR9 ENST00000361367 human ensembl 74_37 +1 known missense c.1598 p.C533Y 1.000 pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CTR9 HGNC ENSG00000198730 tier1 - - 202 0 0.00 143 90 38.46 CYLC1 0 genome.wustl.edu 37 X 83128459 83128459 + Missense_Mutation SNP T T A TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 X 83128459 83128459 T A SNP CYLC1 ENST00000329312 human ensembl 74_37 +1 known missense c.743 p.L248H 0.001 NULL NULL - no_errors CYLC1 HGNC ENSG00000183035 tier1 - - 29 0 0.00 19 40 67.80 DCAF12L1 0 genome.wustl.edu 37 X 125685285 125685285 + Missense_Mutation SNP T T G TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 X 125685285 125685285 T G SNP DCAF12L1 ENST00000371126 human ensembl 74_37 -1 known missense c.1307 p.Y436S 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF12L1 HGNC ENSG00000198889 tier1 - - 43 0 0.00 15 46 75.41 DCN 0 genome.wustl.edu 37 12 91558455 91558455 + Missense_Mutation SNP G G T TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 12 91558455 91558455 G T SNP DCN ENST00000052754 human ensembl 74_37 -1 known missense c.251 p.T84N 0.742 smart_LRR-contain_N,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 76 0 0.00 75 4 5.06 DDX50 0 genome.wustl.edu 37 10 70673227 70673227 + Missense_Mutation SNP G G A TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 10 70673227 70673227 G A SNP DDX50 ENST00000373585 human ensembl 74_37 +1 known missense c.838 p.D280N 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_GUCT,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX50 HGNC ENSG00000107625 tier1 - - 65 0 0.00 53 24 31.17 DENND1A 0 genome.wustl.edu 37 9 126144356 126144356 + Silent SNP G G A TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 9 126144356 126144356 G A SNP DENND1A ENST00000394219 human ensembl 74_37 -1 known silent c.2418 p.G806 0.541 NULL pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND1A HGNC ENSG00000119522 12 0 0.00 1 2 66.67 DEPDC5 0 genome.wustl.edu 37 22 32270317 32270317 + Missense_Mutation SNP G G A TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 22 32270317 32270317 G A SNP DEPDC5 ENST00000266091 human ensembl 74_37 +1 known missense c.3556 p.A1186T 1.000 pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom pfam_IML1,pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom - no_errors DEPDC5 HGNC ENSG00000100150 tier1 - - 22 0 0.00 13 7 35.00 DIP2B 0 genome.wustl.edu 37 12 51097964 51097964 + Silent SNP G G T TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 12 51097964 51097964 G T SNP DIP2B ENST00000301180 human ensembl 74_37 +1 known silent c.2367 p.V789 0.065 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd - no_errors DIP2B HGNC ENSG00000066084 tier1 - - 89 0 0.00 93 5 5.10 DISP2 0 genome.wustl.edu 37 15 40650534 40650536 + In_Frame_Del DEL CAG CAG - TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 CAG CAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 15 40650534 40650536 CAG 0 DEL DISP2 ENST00000267889 human ensembl 74_37 +1 known in_frame_del c.12_14 p.S8in_frame_del 0.000:0.000:0.006 NULL pfscan_SSD - no_errors DISP2 HGNC ENSG00000140323 9 0 0.00 4 2 33.33 DKFZP434H168 0 genome.wustl.edu 37 16 56226643 56226643 + RNA SNP C C T TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 16 56226643 56226643 C T SNP DKFZP434H168 ENST00000567381 human ensembl 74_37 -1 known rna NULL NULL 0.988 - - - no_errors CTD-2050B12.2 Clone_based_vega_gene ENSG00000261439 tier1 - - 43 0 0.00 59 4 6.35 DLEC1 0 genome.wustl.edu 37 3 38158135 38158135 + Nonsense_Mutation SNP G G T TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 3 38158135 38158135 G T SNP DLEC1 ENST00000346219 human ensembl 74_37 +1 known nonsense c.4048 p.E1350* 0.002 NULL superfamily_PapD-like - no_errors DLEC1 HGNC ENSG00000008226 tier1 - - 87 0 0.00 58 4 6.45 DNAH12 0 genome.wustl.edu 37 3 57391564 57391564 + Missense_Mutation SNP G G A TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 3 57391564 57391564 G A SNP DNAH12 ENST00000351747 human ensembl 74_37 -1 known missense c.6335 p.A2112V 0.793 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH12 HGNC ENSG00000174844 tier1 - - 56 0 0.00 30 4 11.76 DNAJC13 0 genome.wustl.edu 37 3 132175635 132175635 + Silent SNP G G T TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 3 132175635 132175635 G T SNP DNAJC13 ENST00000260818 human ensembl 74_37 +1 known silent c.1308 p.V436 0.985 NULL pfam_DnaJ_domain,superfamily_ARM-type_fold,superfamily_GYF,smart_DnaJ_domain,pfscan_DnaJ_domain - no_errors DNAJC13 HGNC ENSG00000138246 tier1 - - 44 0 0.00 34 4 10.53 DPEP1 0 genome.wustl.edu 37 16 89702746 89702746 + Silent SNP G G T TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 16 89702746 89702746 G T SNP DPEP1 ENST00000261615 human ensembl 74_37 +1 known silent c.312 p.V104 0.676 pfam_Peptidase_M19 pfam_Peptidase_M19 - no_errors DPEP1 HGNC ENSG00000015413 14 0 0.00 12 3 20.00 DSCAM 0 genome.wustl.edu 37 21 41561162 41561162 + Missense_Mutation SNP G G T TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 21 41561162 41561162 G T SNP DSCAM ENST00000400454 human ensembl 74_37 -1 known missense c.2360 p.P787H 1.000 pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DSCAM HGNC ENSG00000171587 tier1 - - 31 0 0.00 51 4 7.27 DSEL 0 genome.wustl.edu 37 18 65180269 65180269 + Missense_Mutation SNP A A G TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 18 65180269 65180269 A G SNP DSEL ENST00000310045 human ensembl 74_37 -1 known missense c.1607 p.L536P 1.000 NULL pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,superfamily_Chondroitin_lyas - no_errors DSEL HGNC ENSG00000171451 tier1 - - 35 0 0.00 17 22 56.41 DSG2 0 genome.wustl.edu 37 18 29111132 29111132 + Missense_Mutation SNP G G T TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 18 29111132 29111132 G T SNP DSG2 ENST00000261590 human ensembl 74_37 +1 known missense c.1197 p.E399D 0.051 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmosomal_cadherin - no_errors DSG2 HGNC ENSG00000046604 tier1 - - 87 0 0.00 61 4 6.15 DSG2 0 genome.wustl.edu 37 18 29111197 29111197 + Missense_Mutation SNP G G T TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 18 29111197 29111197 G T SNP DSG2 ENST00000261590 human ensembl 74_37 +1 known missense c.1262 p.G421V 0.995 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmosomal_cadherin - no_errors DSG2 HGNC ENSG00000046604 71 0 0.00 52 3 5.45 EFCAB4B 0 genome.wustl.edu 37 12 3747573 3747573 + Missense_Mutation SNP G G A TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 12 3747573 3747573 G A SNP EFCAB4B ENST00000440314 human ensembl 74_37 -1 known missense c.1319 p.S440F 1.000 NULL pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_EF_hand_dom,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,pfscan_EF_hand_dom,tigrfam_Small_GTP-bd_dom - no_errors EFCAB4B HGNC ENSG00000130038 tier1 - - 85 0 0.00 39 40 50.63 EHD3 0 genome.wustl.edu 37 2 31467221 31467221 + Silent SNP A A G TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 2 31467221 31467221 A G SNP EHD3 ENST00000322054 human ensembl 74_37 +1 known silent c.309 p.G103 0.010 pfam_Dynamin_GTPase,superfamily_P-loop_NTPase pfam_Dynamin_GTPase,superfamily_P-loop_NTPase,smart_EPS15_homology,pfscan_EF_hand_dom,pfscan_EPS15_homology - no_errors EHD3 HGNC ENSG00000013016 tier1 - - 27 0 0.00 29 12 29.27 ELF2 0 genome.wustl.edu 37 4 139994616 139994616 + Missense_Mutation SNP C C T TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 4 139994616 139994616 C T SNP ELF2 ENST00000379550 human ensembl 74_37 -1 known missense c.344 p.R115K 1.000 NULL pfam_TF_Elf_N,pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ELF2 HGNC ENSG00000109381 tier1 - - 53 0 0.00 87 20 18.69 EMR1 0 genome.wustl.edu 37 19 6901999 6901999 + Missense_Mutation SNP T T G TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 19 6901999 6901999 T G SNP EMR1 ENST00000312053 human ensembl 74_37 +1 known missense c.628 p.L210V 0.000 smart_EGF-like_Ca-bd_dom,smart_EG-like_dom pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd_dom,pfam_GPS_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_EMR1_rcpt,prints_GPCR_2_secretin-like - no_errors EMR1 HGNC ENSG00000174837 tier1 - - 62 0 0.00 52 24 31.58 ENO4 0 genome.wustl.edu 37 10 118615135 118615135 + Missense_Mutation SNP C C A TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 10 118615135 118615135 C A SNP ENO4 ENST00000341276 human ensembl 74_37 +1 known missense c.170 p.A57E 1.000 NULL pfam_Enolase_C,pfam_Enolase_N - no_errors ENO4 HGNC ENSG00000188316 tier1 - - 93 0 0.00 78 40 33.90 ENSG00000161103 0 genome.wustl.edu 37 22 18845987 18845987 + RNA SNP T T A TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 22 18845987 18845987 T A SNP ENSG00000161103 ENST00000412938 human ensembl 74_37 +1 known rna NULL NULL 0.022 - - - no_errors AC008132.13 Clone_based_vega_gene ENSG00000161103 tier1 - - 234 0 0.00 197 47 19.11 ENSG00000188971 0 genome.wustl.edu 37 2 69685684 69685684 + RNA SNP C C T TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 2 69685684 69685684 C T SNP ENSG00000188971 ENST00000606389 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-427H3.3 Clone_based_vega_gene ENSG00000188971 tier1 - - 61 0 0.00 71 38 34.86 ENSG00000214999 0 genome.wustl.edu 37 17 7983438 7983439 + Frame_Shift_Del DEL GC GC - TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 GC GC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 17 7983438 7983439 GC - DEL ENSG00000214999 ENST00000399413 human ensembl 74_37 +1 putative frame_shift_del c.119_120 p.A43fs 0.125:0.013 NULL NULL - no_errors AC129492.6 Clone_based_vega_gene ENSG00000214999 tier1 28 0 0.00 26 3 10.34 ENSG00000223730 0 genome.wustl.edu 37 22 45297451 45297451 + RNA SNP T T A TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 22 45297451 45297451 T A SNP ENSG00000223730 ENST00000431036 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors RP1-127B20.4 Clone_based_vega_gene ENSG00000223730 tier1 - - 27 0 0.00 14 14 50.00 ENSG00000231242 0 genome.wustl.edu 37 9 69083037 69083037 + RNA SNP A A G TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 9 69083037 69083037 A G SNP ENSG00000231242 ENST00000412376 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-87H9.3 Clone_based_vega_gene ENSG00000231242 tier1 - - 192 0 0.00 221 15 6.36 ENSG00000273333 0 genome.wustl.edu 37 6 32153419 32153419 + RNA SNP A A C TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 6 32153419 32153419 A C SNP ENSG00000273333 ENST00000559458 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors XXbac-BPG300A18.13 Clone_based_vega_gene ENSG00000273333 tier1 rs139100746 - 45 0 0.00 33 26 44.07 ERG 0 genome.wustl.edu 37 21 39947585 39947585 + Splice_Site SNP C C T TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 21 39947585 39947585 C T SNP ERG ENST00000398919 human ensembl 74_37 -1 known splice_site c.39+1 e1+1 1.000 - - - no_errors ERG HGNC ENSG00000157554 tier1 - - 40 0 0.00 51 21 29.17 EVC2 0 genome.wustl.edu 37 4 5624468 5624468 + Missense_Mutation SNP C C T TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 4 5624468 5624468 C T SNP EVC2 ENST00000344408 human ensembl 74_37 -1 known missense c.2297 p.R766H 0.579 NULL pfam_Limbin - no_errors EVC2 HGNC ENSG00000173040 23 0 0.00 22 2 8.33 FAM230A 0 genome.wustl.edu 37 22 20710913 20710913 + Missense_Mutation SNP G G A TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 22 20710913 20710913 G A SNP FAM230A ENST00000434783 human ensembl 74_37 +1 known missense c.2645 p.R882K 0.158 NULL pfam_Ret-finger_pr-like_3_antisense,superfamily_Kinase-like_dom - no_errors FAM230A HGNC ENSG00000188280 tier1 rs62218188 - 61 0 0.00 78 12 13.33 FBL 0 genome.wustl.edu 37 19 40328462 40328462 + Nonsense_Mutation SNP C C A TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 19 40328462 40328462 C A SNP FBL ENST00000221801 human ensembl 74_37 -1 known nonsense c.571 p.E191* 1.000 pfam_Fibrillarin,pirsf_Fibrillarin,prints_Fibrillarin pfam_Fibrillarin,pirsf_Fibrillarin,prints_Fibrillarin - no_errors FBL HGNC ENSG00000105202 tier1 - - 25 0 0.00 23 18 43.90 FHOD3 0 genome.wustl.edu 37 18 34310636 34310636 + Nonsense_Mutation SNP G G T TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 18 34310636 34310636 G T SNP FHOD3 ENST00000257209 human ensembl 74_37 +1 known nonsense c.2920 p.E974* 1.000 pfam_FH2_Formin,smart_FH2_Formin pfam_FH2_Formin,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors FHOD3 HGNC ENSG00000134775 tier1 - - 62 0 0.00 50 4 7.41 FIBCD1 0 genome.wustl.edu 37 9 133779538 133779538 + Silent SNP G G A TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 9 133779538 133779538 G A SNP FIBCD1 ENST00000372338 human ensembl 74_37 -1 known silent c.1299 p.D433 1.000 pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors FIBCD1 HGNC ENSG00000130720 tier1 - - 31 0 0.00 33 7 17.50 FMN2 0 genome.wustl.edu 37 1 240256708 240256708 + Silent SNP G G A TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 1 240256708 240256708 G A SNP FMN2 ENST00000319653 human ensembl 74_37 +1 known silent c.1299 p.P433 0.001 NULL pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom - no_errors FMN2 HGNC ENSG00000155816 tier1 - - 40 0 0.00 30 17 35.42 FOXO3 0 genome.wustl.edu 37 6 108985092 108985092 + Silent SNP C C G TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 6 108985092 108985092 C G SNP FOXO3 ENST00000343882 human ensembl 74_37 +1 known silent c.1056 p.A352 0.997 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXO3 HGNC ENSG00000118689 34 0 0.00 33 4 10.81 GABRB1 0 genome.wustl.edu 37 4 47163449 47163449 + Silent SNP C C A TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 4 47163449 47163449 C A SNP GABRB1 ENST00000295454 human ensembl 74_37 +1 known silent c.424 p.R142 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAb_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRB1 HGNC ENSG00000163288 32 0 0.00 50 3 5.66 GALNT15 0 genome.wustl.edu 37 3 16216813 16216813 + Missense_Mutation SNP G G T TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 3 16216813 16216813 G T SNP GALNT15 ENST00000339732 human ensembl 74_37 +1 known missense c.155 p.S52I 0.016 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT15 HGNC ENSG00000131386 46 0 0.00 35 2 5.41 GBA 0 genome.wustl.edu 37 1 155207371 155207371 + Splice_Site SNP T T C TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 1 155207371 155207371 T C SNP GBA ENST00000327247 human ensembl 74_37 -1 known splice_site c.762-2 e7-2 0.995 - - - no_errors GBA HGNC ENSG00000177628 23 0 0.00 34 4 10.53 GGT7 0 genome.wustl.edu 37 20 33447427 33447427 + Missense_Mutation SNP T T C TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 20 33447427 33447427 T C SNP GGT7 ENST00000336431 human ensembl 74_37 -1 novel missense c.833 p.E278G 0.801 pfam_GGT_peptidase pfam_GGT_peptidase,prints_GGT_peptidase - no_errors GGT7 HGNC ENSG00000131067 tier1 - - 56 0 0.00 39 14 26.42 GHR 0 genome.wustl.edu 37 5 42629169 42629169 + Missense_Mutation SNP T T C TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 5 42629169 42629169 T C SNP GHR ENST00000230882 human ensembl 74_37 +1 known missense c.100 p.W34R 0.811 NULL pfam_Growth/epo_recpt_lig-bind,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors GHR HGNC ENSG00000112964 tier1 - - 49 0 0.00 15 26 63.41 GLRB 0 genome.wustl.edu 37 4 158074057 158074057 + Missense_Mutation SNP A A C TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 4 158074057 158074057 A C SNP GLRB ENST00000264428 human ensembl 74_37 +1 known missense c.1092 p.K364N 0.997 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Glycine_rcpt_B,prints_GABAA_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GLRB HGNC ENSG00000109738 tier1 - - 72 0 0.00 58 27 31.76 GRIA1 0 genome.wustl.edu 37 5 153078473 153078473 + Missense_Mutation SNP G G A TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 5 153078473 153078473 G A SNP GRIA1 ENST00000448073 human ensembl 74_37 +1 known missense c.1322 p.G441D 1.000 pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIA1 HGNC ENSG00000155511 53 0 0.00 36 2 5.26 GRIA3 0 genome.wustl.edu 37 X 122536894 122536894 + Missense_Mutation SNP G G A TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 X 122536894 122536894 G A SNP GRIA3 ENST00000264357 human ensembl 74_37 +1 known missense c.1130 p.R377H 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIA3 HGNC ENSG00000125675 tier1 - - 91 0 0.00 33 100 75.19 GRIK4 0 genome.wustl.edu 37 11 120776197 120776197 + Missense_Mutation SNP G G A TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 11 120776197 120776197 G A SNP GRIK4 ENST00000527524 human ensembl 74_37 +1 known missense c.1471 p.A491T 0.353 pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK4 HGNC ENSG00000149403 tier1 rs137989709 - 15 0 0.00 15 8 34.78 GTF3C5 0 genome.wustl.edu 37 9 135933335 135933335 + Missense_Mutation SNP G G A TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 9 135933335 135933335 G A SNP GTF3C5 ENST00000372108 human ensembl 74_37 +1 known missense c.1549 p.E517K 1.000 NULL pfam_TF_IIIC_su-5 - no_errors GTF3C5 HGNC ENSG00000148308 tier1 - - 17 0 0.00 5 8 61.54 HMGB1P5 0 genome.wustl.edu 37 3 22424293 22424293 + RNA SNP C C G TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 3 22424293 22424293 C G SNP HMGB1P5 ENST00000451497 human ensembl 74_37 +1 known rna NULL NULL 0.996 - - - no_errors HMGB1P5 HGNC ENSG00000132967 32 0 0.00 30 7 18.92 HNRNPKP3 0 genome.wustl.edu 37 11 43283424 43283424 + RNA SNP C C T TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 11 43283424 43283424 C T SNP HNRNPKP3 ENST00000511537 human ensembl 74_37 -1 known rna NULL NULL 0.992 - - - no_errors HNRNPKP3 HGNC ENSG00000251557 tier1 - - 19 0 0.00 15 8 32.00 HS3ST1 0 genome.wustl.edu 37 4 11401465 11401465 + Silent SNP C C T TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 4 11401465 11401465 C T SNP HS3ST1 ENST00000002596 human ensembl 74_37 -1 known silent c.165 p.P55 0.621 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors HS3ST1 HGNC ENSG00000002587 tier1 - - 21 0 0.00 36 10 21.74 HSPB11 0 genome.wustl.edu 37 1 54387359 54387359 + Missense_Mutation SNP C C T TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 1 54387359 54387359 C T SNP HSPB11 ENST00000194214 human ensembl 74_37 -1 known missense c.400 p.A134T 0.998 superfamily_Galactose-bd-like pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like - no_errors HSPB11 HGNC ENSG00000081870 tier1 - - 58 0 0.00 42 32 43.24 HTR7 0 genome.wustl.edu 37 10 92508753 92508753 + Missense_Mutation SNP T T A TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 10 92508753 92508753 T A SNP HTR7 ENST00000336152 human ensembl 74_37 -1 known missense c.1138 p.N380Y 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Melcrt_ACTH_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT_7_rcpt,prints_GPCR_Rhodpsn,prints_Melcrt_ACTH_rcpt - no_errors HTR7 HGNC ENSG00000148680 tier1 - - 55 0 0.00 43 28 39.44 IFFO1 0 genome.wustl.edu 37 12 6664974 6664974 + Missense_Mutation SNP G G C TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 12 6664974 6664974 G C SNP IFFO1 ENST00000356896 human ensembl 74_37 -1 known missense c.222 p.I74M 1.000 NULL NULL - no_errors IFFO1 HGNC ENSG00000010295 tier1 - - 25 0 0.00 7 13 65.00 IFI16 0 genome.wustl.edu 37 1 158985745 158985745 + Missense_Mutation SNP A A C TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 1 158985745 158985745 A C SNP IFI16 ENST00000295809 human ensembl 74_37 +1 known missense c.349 p.T117P 0.000 NULL pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like_dom,pfscan_DAPIN,pfscan_HIN200/IF120x - no_errors IFI16 HGNC ENSG00000163565 tier1 - - 22 0 0.00 18 13 41.94 ITSN2 0 genome.wustl.edu 37 2 24427241 24427241 + Nonsense_Mutation SNP G G T TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 2 24427241 24427241 G T SNP ITSN2 ENST00000355123 human ensembl 74_37 -1 known nonsense c.4809 p.Y1603* 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_dom,superfamily_DH-domain,superfamily_C2_dom,superfamily_SH3_domain,smart_EPS15_homology,smart_EF_hand_dom,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_dom,pfscan_EF_hand_dom,pfscan_EPS15_homology,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_p67phox - no_errors ITSN2 HGNC ENSG00000198399 tier1 - - 47 0 0.00 52 4 7.14 IZUMO3 0 genome.wustl.edu 37 9 24544218 24544218 + Silent SNP G G A TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 9 24544218 24544218 G A SNP IZUMO3 ENST00000543880 human ensembl 74_37 -1 novel silent c.471 p.F157 0.997 NULL NULL - no_errors IZUMO3 HGNC ENSG00000205442 tier1 - - 55 0 0.00 27 20 42.55 JAKMIP3 0 genome.wustl.edu 37 10 133948604 133948604 + Missense_Mutation SNP T T A TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 10 133948604 133948604 T A SNP JAKMIP3 ENST00000298622 human ensembl 74_37 +1 known missense c.909 p.S303R 0.962 NULL NULL - no_errors JAKMIP3 HGNC ENSG00000188385 tier1 - - 74 0 0.00 74 41 35.34 KAT8 0 genome.wustl.edu 37 16 31131726 31131726 + Missense_Mutation SNP C C T TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 16 31131726 31131726 C T SNP KAT8 ENST00000448516 human ensembl 74_37 +1 known missense c.353 p.A118V 1.000 superfamily_Chromodomain-like,smart_Chromo_domain/shadow pfam_MOZ_SAS,pfam_Tudor-knot,superfamily_Acyl_CoA_acyltransferase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow - no_errors KAT8 HGNC ENSG00000103510 tier1 - - 35 0 0.00 28 4 12.50 KCNA2 0 genome.wustl.edu 37 1 111144720 111144720 + Silent SNP A A G TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 1 111144720 111144720 A G SNP KCNA2 ENST00000369770 human ensembl 74_37 -1 putative silent c.967 p.L323 1.000 NULL pfam_T1-type_BTB,pfam_Ion_trans_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv1.2,prints_K_chnl_volt-dep_Kv1.3 - no_errors KCNA2 HGNC ENSG00000177301 tier1 - - 32 0 0.00 27 16 37.21 KCNH5 0 genome.wustl.edu 37 14 63473102 63473102 + Missense_Mutation SNP G G T TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 14 63473102 63473102 G T SNP KCNH5 ENST00000322893 human ensembl 74_37 -1 known missense c.286 p.L96I 1.000 pfam_PAS_fold,superfamily_PAS,smart_PAC,pfscan_PAS-assoc_C,tigrfam_PAS pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_cNMP-bd_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH5 HGNC ENSG00000140015 45 0 0.00 52 3 5.45 KCNMB2 0 genome.wustl.edu 37 3 178560673 178560673 + Missense_Mutation SNP T T G TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 3 178560673 178560673 T G SNP KCNMB2 ENST00000358316 human ensembl 74_37 +1 known missense c.656 p.L219R 1.000 pfam_K_chnl_Ca-activ_BK_bsu pfam_K_chnl_Ca-activ_BK_bsu,pfam_KCNMB2_ball_chain_dom,prints_K_chnl_Ca-activ_BK_bsu - no_errors KCNMB2 HGNC ENSG00000197584 tier1 - - 59 0 0.00 13 27 67.50 KIAA0226L 0 genome.wustl.edu 37 13 46924468 46924468 + Missense_Mutation SNP C C T TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 13 46924468 46924468 C T SNP KIAA0226L ENST00000389908 human ensembl 74_37 -1 known missense c.1349 p.R450Q 1.000 NULL NULL - no_errors KIAA0226L HGNC ENSG00000102445 tier1 - - 44 0 0.00 41 26 38.81 KIAA1551 0 genome.wustl.edu 37 12 32145896 32145896 + RNA SNP A A C TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 12 32145896 32145896 A C SNP KIAA1551 ENST00000397578 human ensembl 74_37 +1 known rna NULL NULL 0.238 - - - no_errors KIAA1551 HGNC ENSG00000174718 tier1 - - 95 0 0.00 959 138 12.58 KIR3DX1 0 genome.wustl.edu 37 19 55054694 55054694 + RNA SNP C C T TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 19 55054694 55054694 C T SNP KIR3DX1 ENST00000482404 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors KIR3DX1 HGNC ENSG00000104970 41 0 0.00 46 4 8.00 KLHL7 0 genome.wustl.edu 37 7 23183545 23183545 + Missense_Mutation SNP A A G TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 7 23183545 23183545 A G SNP KLHL7 ENST00000339077 human ensembl 74_37 +1 known missense c.694 p.K232E 1.000 pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL7 HGNC ENSG00000122550 tier1 - - 83 0 0.00 106 7 6.19 KRT31 0 genome.wustl.edu 37 17 39550305 39550305 + Missense_Mutation SNP C C T TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 17 39550305 39550305 C T SNP KRT31 ENST00000251645 human ensembl 74_37 -1 known missense c.1214 p.R405H 0.974 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT31 HGNC ENSG00000094796 tier1 - - 17 0 0.00 21 79 79.00 KRTAP10-7 0 genome.wustl.edu 37 21 46021043 46021043 + Silent SNP C C T TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 21 46021043 46021043 C T SNP KRTAP10-7 ENST00000380102 human ensembl 74_37 +1 known silent c.522 p.S174 0.000 NULL NULL - no_errors KRTAP10-7 HGNC ENSG00000205441 53 0 0.00 43 5 10.42 LOC100653061 0 genome.wustl.edu 37 5 34182947 34182947 + RNA SNP G G C TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 5 34182947 34182947 G C SNP LOC100653061 ENST00000508395 human ensembl 74_37 -1 known rna NULL NULL 0.936 - - - no_errors RP11-1023L17.1 Clone_based_vega_gene ENSG00000215158 tier1 - - 714 0 0.00 303 43 12.39 LOC645188 0 genome.wustl.edu 37 X 140714827 140714827 + RNA SNP A A C TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 X 140714827 140714827 A C SNP LOC645188 ENST00000412163 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP1-171K16.5 Clone_based_vega_gene ENSG00000223438 tier1 - - 14 0 0.00 3 9 75.00 LPAR2 0 genome.wustl.edu 37 19 19737605 19737605 + Silent SNP C C T TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 19 19737605 19737605 C T SNP LPAR2 ENST00000407877 human ensembl 74_37 -1 known silent c.489 p.L163 0.963 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_LPA_rcpt_EDG4,prints_GPCR_Rhodpsn,prints_LPA_rcpt,prints_LPA_rcpt_EDG2,prints_Melcrt_ACTH_rcpt,prints_S1P_rcpt - no_errors LPAR2 HGNC ENSG00000064547 tier1 - - 33 0 0.00 33 4 10.81 LPIN3 0 genome.wustl.edu 37 20 39983354 39983354 + Missense_Mutation SNP C C T TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 20 39983354 39983354 C T SNP LPIN3 ENST00000373257 human ensembl 74_37 +1 known missense c.1597 p.R533C 0.997 NULL pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,smart_LNS2 - no_errors LPIN3 HGNC ENSG00000132793 tier1 - - 40 0 0.00 17 11 39.29 LRCOL1 0 genome.wustl.edu 37 12 133182805 133182805 + RNA SNP C C T TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 12 133182805 133182805 C T SNP LRCOL1 ENST00000536100 human ensembl 74_37 -1 known rna NULL NULL 0.005 - - - no_errors LRCOL1 HGNC ENSG00000204583 114 0 0.00 73 4 5.19 LRP1B 0 genome.wustl.edu 37 2 141607887 141607888 + Frame_Shift_Ins INS - - T TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 2 141607887 141607888 - T INS LRP1B ENST00000389484 human ensembl 74_37 -1 known frame_shift_ins c.4723_4722 p.F1574fs 1.000:1.000 NULL 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 tier1 39 0 0.00 31 9 22.50 LRRC18 0 genome.wustl.edu 37 10 50121955 50121955 + Missense_Mutation SNP G G T TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 10 50121955 50121955 G T SNP LRRC18 ENST00000374160 human ensembl 74_37 -1 known missense c.246 p.S82R 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC18 HGNC ENSG00000165383 tier1 - - 28 0 0.00 50 4 7.41 LRRC56 0 genome.wustl.edu 37 11 550191 550191 + Missense_Mutation SNP G G T TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 11 550191 550191 G T SNP LRRC56 ENST00000270115 human ensembl 74_37 +1 known missense c.543 p.L181F 1.000 NULL NULL - no_errors LRRC56 HGNC ENSG00000161328 tier1 - - 55 0 0.00 60 4 6.25 LRRK2 0 genome.wustl.edu 37 12 40634288 40634288 + Missense_Mutation SNP C C T TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 12 40634288 40634288 C T SNP LRRK2 ENST00000298910 human ensembl 74_37 +1 known missense c.575 p.S192L 1.000 superfamily_ARM-type_fold pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,tigrfam_Small_GTP-bd_dom - no_errors LRRK2 HGNC ENSG00000188906 tier1 - - 63 0 0.00 73 5 6.41 LRRTM4 0 genome.wustl.edu 37 2 77746912 77746912 + Missense_Mutation SNP G G A TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 2 77746912 77746912 G A SNP LRRTM4 ENST00000409911 human ensembl 74_37 -1 known missense c.86 p.T29M 0.999 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRTM4 HGNC ENSG00000176204 tier1 - - 34 0 0.00 25 18 41.86 LY75 0 genome.wustl.edu 37 2 160667040 160667040 + Missense_Mutation SNP G G A TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 2 160667040 160667040 G A SNP LY75 ENST00000554112 human ensembl 74_37 -1 known missense c.4696 p.H1566Y 0.986 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_FN_type2_col-bd,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin - no_errors LY75 HGNC ENSG00000054219 tier1 - - 74 0 0.00 27 56 67.47 MRGPRX3 0 genome.wustl.edu 37 11 18158962 18158962 + Silent SNP C C T TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 11 18158962 18158962 C T SNP MRGPRX3 ENST00000396275 human ensembl 74_37 +1 known silent c.213 p.A71 0.554 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors MRGPRX3 HGNC ENSG00000179826 tier1 - - 26 0 0.00 16 14 46.67 MT1M 0 genome.wustl.edu 37 16 56667708 56667708 + Missense_Mutation SNP G G A TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 16 56667708 56667708 G A SNP MT1M ENST00000379818 human ensembl 74_37 +1 known missense c.140 p.G47D 1.000 pfam_Metalthion_sfam_euk,superfamily_Metalthion_dom,prints_Metalthion_vert pfam_Metalthion_sfam_euk,superfamily_Metalthion_dom,prints_Metalthion_vert - no_errors MT1M HGNC ENSG00000205364 tier1 - - 59 0 0.00 62 5 7.46 MUC16 0 genome.wustl.edu 37 19 9067623 9067623 + Missense_Mutation SNP G G A TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 19 9067623 9067623 G A SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.19823 p.S6608L 0.004 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 51 0 0.00 36 30 45.45 MUC4 0 genome.wustl.edu 37 3 195505763 195505763 + Missense_Mutation SNP G G A TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 3 195505763 195505763 G A SNP MUC4 ENST00000463781 human ensembl 74_37 -1 known missense c.12688 p.L4230F 0.125 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 89 0 0.00 50 4 7.41 MYO15A 0 genome.wustl.edu 37 17 18022706 18022706 + Missense_Mutation SNP G G A TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 17 18022706 18022706 G A SNP MYO15A ENST00000205890 human ensembl 74_37 +1 known missense c.592 p.A198T 0.071 NULL pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom - no_errors MYO15A HGNC ENSG00000091536 tier1 - - 13 0 0.00 3 7 70.00 MYO16 0 genome.wustl.edu 37 13 109318471 109318471 + Missense_Mutation SNP C C T TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 13 109318471 109318471 C T SNP MYO16 ENST00000356711 human ensembl 74_37 +1 known missense c.200 p.A67V 1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO16 HGNC ENSG00000041515 tier1 - - 95 0 0.00 119 15 11.11 NAALAD2 0 genome.wustl.edu 37 11 89896509 89896509 + Silent SNP C C T TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 11 89896509 89896509 C T SNP NAALAD2 ENST00000534061 human ensembl 74_37 +1 known silent c.1107 p.D369 1.000 pfam_Peptidase_M28 pfam_TFR-like_dimer_dom,pfam_Peptidase_M28,pfam_Protease-assoc_domain,superfamily_TFR-like_dimer_dom - no_errors NAALAD2 HGNC ENSG00000077616 tier1 - - 103 0 0.00 72 34 32.08 NCSTN 0 genome.wustl.edu 37 1 160326959 160326959 + Silent SNP C C T TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 1 160326959 160326959 C T SNP NCSTN ENST00000294785 human ensembl 74_37 +1 known silent c.1923 p.S641 0.999 NULL pfam_Nicastrin - no_errors NCSTN HGNC ENSG00000162736 tier1 rs200925288 - 29 0 0.00 35 4 10.00 NDST4 0 genome.wustl.edu 37 4 115898389 115898389 + Silent SNP T T C TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 4 115898389 115898389 T C SNP NDST4 ENST00000264363 human ensembl 74_37 -1 known silent c.1020 p.A340 1.000 pfam_Heparan_SO4_deacetylase pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors NDST4 HGNC ENSG00000138653 tier1 - - 65 0 0.00 72 35 32.71 NETO1 0 genome.wustl.edu 37 18 70451127 70451127 + Missense_Mutation SNP G G T TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 18 70451127 70451127 G T SNP NETO1 ENST00000327305 human ensembl 74_37 -1 known missense c.654 p.F218L 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom 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 13 0 0.00 18 2 10.00 NFE2 0 genome.wustl.edu 37 12 54686491 54686491 + Silent SNP C C T TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 12 54686491 54686491 C T SNP NFE2 ENST00000312156 human ensembl 74_37 -1 known silent c.789 p.Q263 1.000 pfam_bZIP_Maf,superfamily_TF_DNA-bd pfam_bZIP,pfam_bZIP_Maf,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors NFE2 HGNC ENSG00000123405 tier1 - - 28 0 0.00 27 4 12.90 NLGN3 0 genome.wustl.edu 37 X 70390007 70390008 + RNA INS - - CA TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 X 70390007 70390008 - CA INS NLGN3 ENST00000476589 human ensembl 74_37 +1 known rna NULL NULL 0.001:0.422 - - - no_errors NLGN3 HGNC ENSG00000196338 tier1 9 0 0.00 7 4 36.36 NLRP2 0 genome.wustl.edu 37 19 55502000 55502000 + Nonsense_Mutation SNP G G T TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 19 55502000 55502000 G T SNP NLRP2 ENST00000448584 human ensembl 74_37 +1 known nonsense c.2668 p.E890* 0.790 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 NLRP2 HGNC ENSG00000022556 74 0 0.00 57 3 5.00 NMNAT2 0 genome.wustl.edu 37 1 183253165 183253165 + Missense_Mutation SNP G G T TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 1 183253165 183253165 G T SNP NMNAT2 ENST00000287713 human ensembl 74_37 -1 known missense c.539 p.A180D 1.000 pfam_Cyt_trans-like pfam_Cyt_trans-like - no_errors NMNAT2 HGNC ENSG00000157064 21 0 0.00 33 2 5.71 NOS2 0 genome.wustl.edu 37 17 26116636 26116636 + Silent SNP C C T TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 17 26116636 26116636 C T SNP NOS2 ENST00000313735 human ensembl 74_37 -1 known silent c.189 p.T63 0.000 pirsf_NOS_euk pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_euk,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS2 HGNC ENSG00000007171 tier1 - - 15 0 0.00 13 6 31.58 NOTCH3 0 genome.wustl.edu 37 19 15271859 15271859 + Frame_Shift_Del DEL G G - TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 19 15271859 15271859 G 0 DEL NOTCH3 ENST00000263388 human ensembl 74_37 -1 known frame_shift_del c.6580 p.Q2194fs 0.993 pirsf_Notch pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_3,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH3 HGNC ENSG00000074181 9 0 0.00 4 2 33.33 NOTCH3 0 genome.wustl.edu 37 19 15271870 15271870 + Missense_Mutation SNP G G A TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 19 15271870 15271870 G A SNP NOTCH3 ENST00000263388 human ensembl 74_37 -1 known missense c.6569 p.A2190V 0.743 pirsf_Notch pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_3,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH3 HGNC ENSG00000074181 9 0 0.00 1 3 75.00 NRCAM 0 genome.wustl.edu 37 7 107790554 107790554 + Missense_Mutation SNP C C T TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 7 107790554 107790554 C T SNP NRCAM ENST00000379028 human ensembl 74_37 -1 known missense c.3716 p.R1239Q 1.000 NULL 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 NRCAM HGNC ENSG00000091129 tier1 - - 52 0 0.00 59 25 29.76 NRIP1 0 genome.wustl.edu 37 21 16338230 16338230 + Missense_Mutation SNP C C A TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 21 16338230 16338230 C A SNP NRIP1 ENST00000318948 human ensembl 74_37 -1 known missense c.2284 p.D762Y 1.000 NULL NULL - no_errors NRIP1 HGNC ENSG00000180530 tier1 - - 34 0 0.00 29 11 27.50 OOEP-AS1 0 genome.wustl.edu 37 6 74079535 74079535 + RNA SNP G G A TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 6 74079535 74079535 G A SNP OOEP-AS1 ENST00000445350 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors OOEP-AS1 HGNC ENSG00000231332 tier1 - - 32 0 0.00 25 8 24.24 OPN1SW 0 genome.wustl.edu 37 7 128414669 128414669 + Silent SNP G G T TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 7 128414669 128414669 G T SNP OPN1SW ENST00000249389 human ensembl 74_37 -1 known silent c.570 p.T190 0.905 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Opsin_blue pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Opsin_blue,prints_GPCR_Rhodpsn,prints_Opsin - no_errors OPN1SW HGNC ENSG00000128617 34 0 0.00 35 2 5.41 OR2T7 0 genome.wustl.edu 37 1 248605124 248605124 + Missense_Mutation SNP C C T TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 1 248605124 248605124 C T SNP OR2T7 ENST00000460972 human ensembl 74_37 +1 known missense c.617 p.S206L 0.007 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 OR2T7 HGNC ENSG00000227152 tier1 - - 41 0 0.00 43 11 20.37 OR4C16 0 genome.wustl.edu 37 11 55339899 55339899 + Missense_Mutation SNP T T C TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 11 55339899 55339899 T C SNP OR4C16 ENST00000314634 human ensembl 74_37 +1 known missense c.296 p.V99A 0.364 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 OR4C16 HGNC ENSG00000181935 tier1 - - 42 0 0.00 32 18 36.00 OR51L1 0 genome.wustl.edu 37 11 5020651 5020651 + Missense_Mutation SNP G G T TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 11 5020651 5020651 G T SNP OR51L1 ENST00000321543 human ensembl 74_37 +1 known missense c.439 p.G147C 0.107 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 OR51L1 HGNC ENSG00000176798 tier1 - - 42 0 0.00 35 17 32.69 OSTCP1 0 genome.wustl.edu 37 6 159262512 159262512 + RNA DEL A A - TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 6 159262512 159262512 A - DEL OSTCP1 ENST00000522287 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors OSTCP1 HGNC ENSG00000243775 tier1 14 0 0.00 16 2 11.11 PABPC5 0 genome.wustl.edu 37 X 90690686 90690686 + Missense_Mutation SNP A A C TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 X 90690686 90690686 A C SNP PABPC5 ENST00000312600 human ensembl 74_37 +1 known missense c.110 p.K37T 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234 pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom,tigrfam_PABP_1234 - no_errors PABPC5 HGNC ENSG00000174740 tier1 - - 28 0 0.00 10 16 61.54 PBRM1 0 genome.wustl.edu 37 3 52651338 52651338 + Missense_Mutation SNP C C A TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 3 52651338 52651338 C A SNP PBRM1 ENST00000296302 human ensembl 74_37 -1 known missense c.1758 p.M586I 1.000 pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain pfam_Bromodomain,pfam_BAH_dom,pfam_HMG_box_dom,superfamily_Bromodomain,superfamily_HMG_box_dom,smart_Bromodomain,smart_BAH_dom,smart_HMG_box_dom,pfscan_BAH_dom,pfscan_HMG_box_dom,pfscan_Bromodomain,prints_Bromodomain - no_errors PBRM1 HGNC ENSG00000163939 tier1 - - 46 0 0.00 21 19 47.50 PCDHA11 0 genome.wustl.edu 37 5 140250526 140250526 + Missense_Mutation SNP C C T TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 5 140250526 140250526 C T SNP PCDHA11 ENST00000398640 human ensembl 74_37 +1 known missense c.1838 p.A613V 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA11 HGNC ENSG00000249158 tier1 - - 83 0 0.00 26 55 67.07 PCDHB6 0 genome.wustl.edu 37 5 140531569 140531569 + Silent SNP G G A TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 5 140531569 140531569 G A SNP PCDHB6 ENST00000231136 human ensembl 74_37 +1 known silent c.1731 p.A577 0.064 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB6 HGNC ENSG00000113211 tier1 - - 98 0 0.00 21 33 61.11 PCNT 0 genome.wustl.edu 37 21 47786667 47786667 + Silent SNP G G A TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 21 47786667 47786667 G A SNP PCNT ENST00000359568 human ensembl 74_37 +1 known silent c.2778 p.A926 0.001 NULL pfam_PACT_domain - no_errors PCNT HGNC ENSG00000160299 tier1 rs149992133 - 22 0 0.00 21 8 27.59 PDE1A 0 genome.wustl.edu 37 2 183387015 183387015 + Missense_Mutation SNP C C T TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 2 183387015 183387015 C T SNP PDE1A ENST00000456212 human ensembl 74_37 -1 known missense c.89 p.R30H 1.000 superfamily_GRIP pfam_PDEase_catalytic_dom,pfam_PDEase_N,superfamily_GRIP,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE1A HGNC ENSG00000115252 tier1 rs137961386 - 65 0 0.00 105 16 13.22 PDZRN3 0 genome.wustl.edu 37 3 73433188 73433188 + Silent SNP G G A TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 3 73433188 73433188 G A SNP PDZRN3 ENST00000263666 human ensembl 74_37 -1 known silent c.2529 p.S843 0.361 NULL pfam_PDZ,pfam_Znf_C3HC4_RING-type,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING,pfscan_Znf_TRAF - no_errors PDZRN3 HGNC ENSG00000121440 tier1 - - 45 0 0.00 47 4 7.84 PGBD5 0 genome.wustl.edu 37 1 230472897 230472897 + Silent SNP G G T TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 1 230472897 230472897 G T SNP PGBD5 ENST00000321327 human ensembl 74_37 -1 known silent c.1122 p.P374 1.000 NULL NULL - no_errors PGBD5 HGNC ENSG00000177614 tier1 - - 39 0 0.00 31 19 38.00 PITPNM1 0 genome.wustl.edu 37 11 67265453 67265453 + Missense_Mutation SNP C C T TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 11 67265453 67265453 C T SNP PITPNM1 ENST00000356404 human ensembl 74_37 -1 known missense c.1717 p.D573N 1.000 NULL pfam_PI_transfer,pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD,prints_PI_transfer - no_errors PITPNM1 HGNC ENSG00000110697 tier1 - - 64 0 0.00 56 23 29.11 PLAC1 0 genome.wustl.edu 37 X 133700357 133700358 + Frame_Shift_Ins INS - - G TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 X 133700357 133700358 - G INS PLAC1 ENST00000359237 human ensembl 74_37 -1 known frame_shift_ins c.356_355 p.Q119fs 0.000:0.000 NULL NULL - no_errors PLAC1 HGNC ENSG00000170965 tier1 26 0 0.00 20 13 39.39 PNLIPRP3 0 genome.wustl.edu 37 10 118236283 118236283 + Missense_Mutation SNP A A C TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 10 118236283 118236283 A C SNP PNLIPRP3 ENST00000369230 human ensembl 74_37 +1 known missense c.1292 p.K431T 0.620 pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,pirsf_Lipoprotein_lipase_LIPH pfam_Lipase_N,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase,prints_Lipase_panc - no_errors PNLIPRP3 HGNC ENSG00000203837 tier1 - - 127 0 0.00 114 58 33.72 POLE 0 genome.wustl.edu 37 12 133233956 133233956 + Silent SNP G G T TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 12 133233956 133233956 G T SNP POLE ENST00000320574 human ensembl 74_37 -1 known silent c.3438 p.T1146 0.084 NULL pfam_DNA_pol_e_suA_C,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_3'-5'_exonuclease_PolB-like,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B - no_errors POLE HGNC ENSG00000177084 tier1 - - 43 0 0.00 20 3 13.04 POU2F3 0 genome.wustl.edu 37 11 120169099 120169099 + Missense_Mutation SNP G G T TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 11 120169099 120169099 G T SNP POU2F3 ENST00000260264 human ensembl 74_37 +1 known missense c.264 p.Q88H 0.001 prints_TF_octamer pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU,prints_TF_octamer - no_errors POU2F3 HGNC ENSG00000137709 30 0 0.00 33 2 5.71 PPA2 0 genome.wustl.edu 37 4 106317440 106317440 + Missense_Mutation SNP G G A TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 4 106317440 106317440 G A SNP PPA2 ENST00000357415 human ensembl 74_37 -1 known missense c.880 p.L294F 0.998 superfamily_Pyrophosphatase pfam_Pyrophosphatase,superfamily_Pyrophosphatase - no_errors PPA2 HGNC ENSG00000138777 tier1 - - 299 0 0.00 245 114 31.75 PRAMEF17 0 genome.wustl.edu 37 1 13717114 13717114 + Missense_Mutation SNP A A G TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 1 13717114 13717114 A G SNP PRAMEF17 ENST00000376098 human ensembl 74_37 +1 known missense c.601 p.R201G 0.000 NULL NULL - no_errors PRAMEF17 HGNC ENSG00000204479 tier1 - - 40 0 0.00 16 6 27.27 PRAMEF6 0 genome.wustl.edu 37 1 12998648 12998648 + Missense_Mutation SNP T T C TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 1 12998648 12998648 T C SNP PRAMEF6 ENST00000355096 human ensembl 74_37 -1 known missense c.1288 p.R430G 0.007 NULL NULL - no_errors PRAMEF6 HGNC ENSG00000232423 tier1 - - 16 0 0.00 1 2 66.67 PREX2 0 genome.wustl.edu 37 8 69021832 69021832 + Silent SNP G G T TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 8 69021832 69021832 G T SNP PREX2 ENST00000288368 human ensembl 74_37 +1 known silent c.3120 p.V1040 1.000 NULL pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX2 HGNC ENSG00000046889 43 0 0.00 34 3 8.11 PRIM2 0 genome.wustl.edu 37 6 57467133 57467133 + RNA SNP G G C TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 6 57467133 57467133 G C SNP PRIM2 ENST00000389488 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors PRIM2 HGNC ENSG00000146143 tier1 - - 114 0 0.00 138 12 8.00 PTPMT1 0 genome.wustl.edu 37 11 47591400 47591400 + Missense_Mutation SNP G G T TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 11 47591400 47591400 G T SNP PTPMT1 ENST00000326674 human ensembl 74_37 +1 novel missense c.404 p.G135V 1.000 pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase - no_errors PTPMT1 HGNC ENSG00000110536 tier1 - - 54 0 0.00 44 4 8.33 PTPN21 0 genome.wustl.edu 37 14 88945689 88945689 + Missense_Mutation SNP C C T TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 14 88945689 88945689 C T SNP PTPN21 ENST00000328736 human ensembl 74_37 -1 known missense c.2086 p.G696S 0.949 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,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 PTPN21 HGNC ENSG00000070778 tier1 - - 20 0 0.00 20 11 35.48 PTPRQ 0 genome.wustl.edu 37 12 80890208 80890208 + Missense_Mutation SNP T T G TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 12 80890208 80890208 T G SNP PTPRQ ENST00000266688 human ensembl 74_37 +1 known missense c.2158 p.L720V 1.000 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 - - 57 0 0.00 37 28 43.08 PXN 0 genome.wustl.edu 37 12 120652004 120652004 + Missense_Mutation SNP A A T TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 12 120652004 120652004 A T SNP PXN ENST00000267257 human ensembl 74_37 -1 known missense c.1337 p.L446H 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM,prints_Paxillin - no_errors PXN HGNC ENSG00000089159 tier1 - - 43 0 0.00 13 16 55.17 RAB18 0 genome.wustl.edu 37 10 27827137 27827137 + RNA SNP G G A TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 10 27827137 27827137 G A SNP RAB18 ENST00000465772 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RAB18 HGNC ENSG00000099246 tier1 - - 34 0 0.00 30 9 23.08 RAB5B 0 genome.wustl.edu 37 12 56384572 56384572 + Missense_Mutation SNP G G T TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 12 56384572 56384572 G T SNP RAB5B ENST00000360299 human ensembl 74_37 +1 known missense c.422 p.R141L 1.000 pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB5B HGNC ENSG00000111540 24 0 0.00 29 4 12.12 RANBP3 0 genome.wustl.edu 37 19 5923297 5923297 + Missense_Mutation SNP C C T TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 19 5923297 5923297 C T SNP RANBP3 ENST00000340578 human ensembl 74_37 -1 known missense c.1117 p.A373T 0.998 NULL pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom - no_errors RANBP3 HGNC ENSG00000031823 tier1 - - 40 0 0.00 36 4 10.00 RGS6 0 genome.wustl.edu 37 14 72936735 72936735 + Missense_Mutation SNP G G C TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 14 72936735 72936735 G C SNP RGS6 ENST00000553525 human ensembl 74_37 +1 known missense c.480 p.Q160H 1.000 NULL pfam_RGS_dom,pfam_G-protein_gamma-like_dom,pfam_DEP_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_G-protein_gamma-like_dom,smart_DEP_dom,smart_G-protein_gamma-like_dom,smart_Regulat_G_prot_signal_superfam,pfscan_DEP_dom,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS6 HGNC ENSG00000182732 tier1 - - 50 0 0.00 44 17 27.87 RIC3 0 genome.wustl.edu 37 11 8149794 8149794 + Missense_Mutation SNP G G T TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 11 8149794 8149794 G T SNP RIC3 ENST00000396677 human ensembl 74_37 -1 known missense c.10 p.L4M 0.000 NULL NULL - no_errors RIC3 HGNC ENSG00000166405 tier1 - - 54 0 0.00 52 4 7.14 RIMS2 0 genome.wustl.edu 37 8 104922598 104922598 + Silent SNP G G A TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 8 104922598 104922598 G A SNP RIMS2 ENST00000262231 human ensembl 74_37 +1 known silent c.1098 p.S366 1.000 NULL pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors RIMS2 HGNC ENSG00000176406 tier1 - - 51 0 0.00 37 17 31.48 RNF186 0 genome.wustl.edu 37 1 20141125 20141125 + Missense_Mutation SNP G G A TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 1 20141125 20141125 G A SNP RNF186 ENST00000375121 human ensembl 74_37 -1 known missense c.470 p.A157V 0.001 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors RNF186 HGNC ENSG00000178828 tier1 - - 62 0 0.00 37 13 26.00 RPL23AP82 0 genome.wustl.edu 37 22 51237176 51237176 + RNA SNP C C T TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 22 51237176 51237176 C T SNP RPL23AP82 ENST00000462238 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors AC002055.4 Clone_based_vega_gene ENSG00000184319 tier1 - - 104 0 0.00 92 37 28.68 RYR2 0 genome.wustl.edu 37 1 237580416 237580416 + Silent SNP A A C TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 1 237580416 237580416 A C SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known silent c.835 p.R279 0.851 pfam_MIR_motif,superfamily_MIR_motif,prints_Ryan_recept 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 - - 57 0 0.00 61 21 25.30 SCN3A 0 genome.wustl.edu 37 2 165997297 165997297 + Missense_Mutation SNP G G T TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 2 165997297 165997297 G T SNP SCN3A ENST00000283254 human ensembl 74_37 -1 known missense c.1883 p.A628D 1.000 pfam_DUF3451 pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN3A HGNC ENSG00000153253 34 0 0.00 50 3 5.66 SCN7A 0 genome.wustl.edu 37 2 167289201 167289201 + Missense_Mutation SNP T T C TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 2 167289201 167289201 T C SNP SCN7A ENST00000409855 human ensembl 74_37 -1 known missense c.2219 p.E740G 0.997 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN7A HGNC ENSG00000136546 tier1 - - 46 0 0.00 22 45 67.16 SDK1 0 genome.wustl.edu 37 7 3681696 3681696 + Silent SNP T T G TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 7 3681696 3681696 T G SNP SDK1 ENST00000404826 human ensembl 74_37 +1 known silent c.672 p.T224 0.324 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2 pfam_Fibronectin_type3,pfam_Ig_I-set,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 SDK1 HGNC ENSG00000146555 tier1 - - 53 0 0.00 39 25 39.06 SEC14L5 0 genome.wustl.edu 37 16 5009369 5009369 + Silent SNP G G T TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 16 5009369 5009369 G T SNP SEC14L5 ENST00000251170 human ensembl 74_37 +1 known silent c.45 p.P15 0.645 pfscan_PRELI/MSF1 pfam_PRELI/MSF1,pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,superfamily_GOLD,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,pfscan_PRELI/MSF1,prints_CRAL-bd_toc_tran - no_errors SEC14L5 HGNC ENSG00000103184 55 0 0.00 54 3 5.26 SEC24B 0 genome.wustl.edu 37 4 110415842 110415842 + Missense_Mutation SNP G G A TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 4 110415842 110415842 G A SNP SEC24B ENST00000265175 human ensembl 74_37 +1 known missense c.1318 p.A440T 0.030 NULL 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 - - 32 0 0.00 32 16 33.33 SEMA4B 0 genome.wustl.edu 37 15 90760682 90760682 + Missense_Mutation SNP C C T TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 15 90760682 90760682 C T SNP SEMA4B ENST00000332496 human ensembl 74_37 +1 known missense c.169 p.R57W 1.000 superfamily_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom - no_errors SEMA4B HGNC ENSG00000185033 44 0 0.00 40 4 9.09 SEZ6 0 genome.wustl.edu 37 17 27332849 27332849 + Silent SNP C C A TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 17 27332849 27332849 C A SNP SEZ6 ENST00000317338 human ensembl 74_37 -1 known silent c.39 p.L13 1.000 NULL pfam_Sushi_SCR_CCP,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,smart_CUB_dom,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors SEZ6 HGNC ENSG00000063015 9 0 0.00 2 2 50.00 SFSWAP 0 genome.wustl.edu 37 12 132262865 132262865 + Missense_Mutation SNP C C T TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 12 132262865 132262865 C T SNP SFSWAP ENST00000261674 human ensembl 74_37 +1 known missense c.2398 p.R800W 0.991 NULL pfam_SWAP_N_domain,pfam_Surp,superfamily_Surp,smart_Surp,pfscan_Surp - no_errors SFSWAP HGNC ENSG00000061936 tier1 - - 46 0 0.00 37 4 9.76 SGTB 0 genome.wustl.edu 37 5 64967752 64967752 + Missense_Mutation SNP G G T TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 5 64967752 64967752 G T SNP SGTB ENST00000381007 human ensembl 74_37 -1 known missense c.793 p.L265I 1.000 NULL pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors SGTB HGNC ENSG00000197860 tier1 - - 64 0 0.00 51 4 7.27 SHANK3 0 genome.wustl.edu 37 22 51159630 51159630 + Silent SNP G G T TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 22 51159630 51159630 G T SNP SHANK3 ENST00000262795 human ensembl 74_37 +1 known silent c.3417 p.A1139 0.443 NULL pfam_SAM_type1,pfam_Ankyrin_rpt,pfam_SAM_2,pfam_SH3_2,pfam_PDZ,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 SHANK3 HGNC ENSG00000251322 tier1 - - 25 0 0.00 12 14 53.85 SHPRH 0 genome.wustl.edu 37 6 146276380 146276380 + Missense_Mutation SNP C C T TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 6 146276380 146276380 C T SNP SHPRH ENST00000367503 human ensembl 74_37 -1 known missense c.79 p.E27K 1.000 NULL pfam_SNF2_N,pfam_Histone_H1/H5_H15,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,superfamily_WW_dom,smart_Helicase_ATP-bd,smart_Histone_H1/H5_H15,smart_Znf_PHD,smart_Znf_RING,smart_Helicase_C,pfscan_Znf_RING,pfscan_Helicase_C - no_errors SHPRH HGNC ENSG00000146414 tier1 - - 27 0 0.00 23 10 30.30 SLC26A5 0 genome.wustl.edu 37 7 103033487 103033487 + Missense_Mutation SNP G G T TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 7 103033487 103033487 G T SNP SLC26A5 ENST00000306312 human ensembl 74_37 -1 known missense c.998 p.T333N 0.998 pfam_Sulph_transpt,tigrfam_SulP_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A5 HGNC ENSG00000170615 tier1 - - 42 0 0.00 54 4 6.90 SLC26A9 0 genome.wustl.edu 37 1 205890901 205890901 + Silent SNP C C T TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 1 205890901 205890901 C T SNP SLC26A9 ENST00000340781 human ensembl 74_37 -1 known silent c.1848 p.P616 0.000 pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A9 HGNC ENSG00000174502 tier1 - - 18 0 0.00 22 20 47.62 SLC44A5 0 genome.wustl.edu 37 1 75699775 75699775 + Missense_Mutation SNP G G A TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 1 75699775 75699775 G A SNP SLC44A5 ENST00000370855 human ensembl 74_37 -1 known missense c.749 p.T250M 0.000 NULL pfam_Choline_transptr-like - no_errors SLC44A5 HGNC ENSG00000137968 tier1 - - 64 0 0.00 58 9 13.43 SLX4 0 genome.wustl.edu 37 16 3633194 3633194 + Missense_Mutation SNP G G T TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 16 3633194 3633194 G T SNP SLX4 ENST00000294008 human ensembl 74_37 -1 known missense c.5057 p.A1686E 0.000 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors SLX4 HGNC ENSG00000188827 76 0 0.00 65 4 5.80 SOGA3 0 genome.wustl.edu 37 6 127796461 127796461 + Missense_Mutation SNP C C T TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 6 127796461 127796461 C T SNP SOGA3 ENST00000368268 human ensembl 74_37 -1 known missense c.2710 p.E904K 1.000 NULL pfam_SOGA - no_errors SOGA3 HGNC ENSG00000214338 tier1 - - 50 0 0.00 39 20 33.90 SPATA2L 0 genome.wustl.edu 37 16 89764175 89764175 + Missense_Mutation SNP G G A TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 16 89764175 89764175 G A SNP SPATA2L ENST00000289805 human ensembl 74_37 -1 known missense c.842 p.P281L 0.000 NULL NULL - no_errors SPATA2L HGNC ENSG00000158792 tier1 - - 89 0 0.00 48 40 45.45 SPATA31D5P 0 genome.wustl.edu 37 9 84533920 84533920 + RNA SNP C C T TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 9 84533920 84533920 C T SNP SPATA31D5P ENST00000527857 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors SPATA31D5P HGNC ENSG00000240632 tier1 - - 88 0 0.00 77 7 8.33 SSBP3 0 genome.wustl.edu 37 1 54871665 54871665 + Missense_Mutation SNP T T C TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 1 54871665 54871665 T C SNP SSBP3 ENST00000371320 human ensembl 74_37 -1 known missense c.17 p.K6R 1.000 NULL smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_SSDP_DNA-bd - no_errors SSBP3 HGNC ENSG00000157216 35 0 0.00 37 4 9.76 STRIP2 0 genome.wustl.edu 37 7 129122851 129122851 + Missense_Mutation SNP C C T TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 7 129122851 129122851 C T SNP STRIP2 ENST00000249344 human ensembl 74_37 +1 known missense c.2218 p.R740C 1.000 pfam_DUF3402 pfam_DUF3402,pfam_N1221 - no_errors STRIP2 HGNC ENSG00000128578 tier1 - - 67 0 0.00 48 27 36.00 SV2A 0 genome.wustl.edu 37 1 149885042 149885042 + Silent SNP C C T TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 1 149885042 149885042 C T SNP SV2A ENST00000369146 human ensembl 74_37 -1 known silent c.351 p.A117 0.080 tigrfam_SV2 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2 - no_errors SV2A HGNC ENSG00000159164 tier1 rs200889129 - 15 0 0.00 16 16 50.00 SV2B 0 genome.wustl.edu 37 15 91832791 91832791 + Silent SNP G G T TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 15 91832791 91832791 G T SNP SV2B ENST00000330276 human ensembl 74_37 +1 known silent c.1749 p.L583 1.000 pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2 pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2 - no_errors SV2B HGNC ENSG00000185518 27 0 0.00 20 2 9.09 SV2C 0 genome.wustl.edu 37 5 75594629 75594629 + Missense_Mutation SNP G G T TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 5 75594629 75594629 G T SNP SV2C ENST00000502798 human ensembl 74_37 +1 known missense c.1513 p.V505F 0.985 superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2 pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2 - no_errors SV2C HGNC ENSG00000122012 57 0 0.00 50 3 5.66 SYNE1 0 genome.wustl.edu 37 6 152728318 152728318 + Missense_Mutation SNP A A C TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 6 152728318 152728318 A C SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.6554 p.L2185R 0.999 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 - - 25 0 0.00 19 9 32.14 SYTL2 0 genome.wustl.edu 37 11 85406306 85406306 + Missense_Mutation SNP A A G TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 11 85406306 85406306 A G SNP SYTL2 ENST00000359152 human ensembl 74_37 -1 known missense c.5275 p.S1759P 0.024 superfamily_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors SYTL2 HGNC ENSG00000137501 41 0 0.00 43 4 8.51 TARBP1 0 genome.wustl.edu 37 1 234563510 234563510 + Silent SNP A A G TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 1 234563510 234563510 A G SNP TARBP1 ENST00000040877 human ensembl 74_37 -1 novel silent c.3063 p.I1021 0.995 superfamily_ARM-type_fold pfam_SpoU_MeTrfase,superfamily_ARM-type_fold - no_errors TARBP1 HGNC ENSG00000059588 tier1 - - 72 0 0.00 77 25 24.51 TBC1D16 0 genome.wustl.edu 37 17 77917903 77917903 + Frame_Shift_Del DEL C C - TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 17 77917903 77917903 C - DEL TBC1D16 ENST00000570373 human ensembl 74_37 -1 putative frame_shift_del c.829 p.A277fs 0.001 smart_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D16 HGNC ENSG00000167291 tier1 22 0 0.00 13 2 13.33 TCL6 0 genome.wustl.edu 37 14 96138523 96138523 + RNA SNP T T C TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 14 96138523 96138523 T C SNP TCL6 ENST00000459662 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors TCL6 HGNC ENSG00000187621 tier1 - - 20 0 0.00 17 13 43.33 THSD7B 0 genome.wustl.edu 37 2 138414722 138414722 + Missense_Mutation SNP A A C TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 2 138414722 138414722 A C SNP THSD7B ENST00000272643 human ensembl 74_37 +1 known missense c.4376 p.N1459T 1.000 NULL pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7B HGNC ENSG00000144229 tier1 - - 48 0 0.00 11 46 80.70 TLK2 0 genome.wustl.edu 37 17 60689902 60689902 + Silent SNP G G A TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 17 60689902 60689902 G A SNP TLK2 ENST00000326270 human ensembl 74_37 +1 known silent c.2295 p.A765 0.935 superfamily_Kinase-like_dom 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 TLK2 HGNC ENSG00000146872 tier1 - - 51 0 0.00 44 13 22.81 TNNC2 0 genome.wustl.edu 37 20 44453234 44453234 + Silent SNP C C T TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 20 44453234 44453234 C T SNP TNNC2 ENST00000372555 human ensembl 74_37 -1 known silent c.99 p.G33 0.981 smart_EF_hand_dom,pfscan_EF_hand_dom pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors TNNC2 HGNC ENSG00000101470 tier1 - - 47 0 0.00 51 4 7.27 TNRC18 0 genome.wustl.edu 37 7 5410472 5410472 + Silent SNP G G A TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 7 5410472 5410472 G A SNP TNRC18 ENST00000399537 human ensembl 74_37 -1 known silent c.3753 p.P1251 0.000 NULL pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors TNRC18 HGNC ENSG00000182095 tier1 - - 114 0 0.00 84 48 36.36 TP53 0 genome.wustl.edu 37 17 7574003 7574003 + Nonsense_Mutation SNP G G A TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 17 7574003 7574003 G A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known nonsense c.1024 p.R342* 0.307 pfam_p53_tetrameristn,superfamily_p53_tetrameristn,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 - - 27 0 0.00 8 8 50.00 TRABD2B 0 genome.wustl.edu 37 1 48267166 48267166 + Missense_Mutation SNP G G C TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 1 48267166 48267166 G C SNP TRABD2B ENST00000606738 human ensembl 74_37 -1 known missense c.792 p.I264M 1.000 superfamily_SuperAg_toxin_C superfamily_SuperAg_toxin_C - no_errors TRABD2B HGNC ENSG00000269113 tier1 - - 32 0 0.00 27 14 34.15 TRABD2B 0 genome.wustl.edu 37 1 48267180 48267180 + Missense_Mutation SNP G G A TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 1 48267180 48267180 G A SNP TRABD2B ENST00000606738 human ensembl 74_37 -1 known missense c.778 p.L260F 1.000 superfamily_SuperAg_toxin_C superfamily_SuperAg_toxin_C - no_errors TRABD2B HGNC ENSG00000269113 tier1 - - 37 0 0.00 26 13 33.33 TRANK1 0 genome.wustl.edu 37 3 36900336 36900336 + Silent SNP G G A TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 3 36900336 36900336 G A SNP TRANK1 ENST00000429976 human ensembl 74_37 -1 known silent c.1413 p.C471 0.971 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_UvrD-like_ATP-bd,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom - no_errors TRANK1 HGNC ENSG00000168016 tier1 - - 53 0 0.00 42 4 8.70 TRIM35 0 genome.wustl.edu 37 8 27145471 27145471 + Missense_Mutation SNP C C T TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 8 27145471 27145471 C T SNP TRIM35 ENST00000305364 human ensembl 74_37 -1 known missense c.1078 p.V360M 1.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM35 HGNC ENSG00000104228 tier1 - - 41 0 0.00 35 4 10.26 TRIM64B 0 genome.wustl.edu 37 11 89603859 89603859 + Missense_Mutation SNP A A C TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 11 89603859 89603859 A C SNP TRIM64B ENST00000329862 human ensembl 74_37 -1 known missense c.1280 p.L427R 0.224 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM64B HGNC ENSG00000189253 tier1 - - 224 0 0.00 233 53 18.53 TRIM64B 0 genome.wustl.edu 37 11 89604185 89604185 + Silent SNP G G A TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 11 89604185 89604185 G A SNP TRIM64B ENST00000329862 human ensembl 74_37 -1 known silent c.954 p.P318 0.000 superfamily_ConA-like_lec_gl_sf,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM64B HGNC ENSG00000189253 tier1 - - 89 0 0.00 62 13 17.33 TRPC2 0 genome.wustl.edu 37 11 3658509 3658509 + RNA SNP C C T TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 11 3658509 3658509 C T SNP TRPC2 ENST00000526541 human ensembl 74_37 +1 known rna NULL NULL 0.630 - - - no_errors TRPC2 HGNC ENSG00000182048 tier1 - - 28 0 0.00 16 6 27.27 TSSK3 0 genome.wustl.edu 37 1 32828359 32828359 + Silent SNP G G T TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 1 32828359 32828359 G T SNP TSSK3 ENST00000373534 human ensembl 74_37 +1 known silent c.57 p.G19 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,pfscan_Prot_kinase_dom 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 TSSK3 HGNC ENSG00000162526 78 0 0.00 76 4 5.00 TTN 0 genome.wustl.edu 37 2 179634517 179634517 + Missense_Mutation SNP C C A TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 2 179634517 179634517 C A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.8791 p.V2931L 1.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 23 0 0.00 12 32 72.73 TTN 0 genome.wustl.edu 37 2 179639844 179639844 + Silent SNP A A C TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 2 179639844 179639844 A C SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.6594 p.T2198 0.994 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 46 0 0.00 54 5 8.47 UBXN1 0 genome.wustl.edu 37 11 62444460 62444460 + Silent SNP C C T TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 11 62444460 62444460 C T SNP UBXN1 ENST00000294119 human ensembl 74_37 -1 known silent c.669 p.G223 1.000 pfam_UBX,smart_UBX,pfscan_UBX pfam_UBX,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,smart_UBX,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_UBX - no_errors UBXN1 HGNC ENSG00000162191 36 0 0.00 26 2 7.14 UHRF1 0 genome.wustl.edu 37 19 4961946 4961946 + RNA SNP A A G TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 19 4961946 4961946 A G SNP UHRF1 ENST00000262952 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors UHRF1 HGNC ENSG00000034063 tier1 - - 26 0 0.00 18 6 25.00 VWA2 0 genome.wustl.edu 37 10 116048899 116048899 + Silent SNP G G A TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 10 116048899 116048899 G A SNP VWA2 ENST00000392982 human ensembl 74_37 +1 known silent c.1773 p.R591 0.001 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_EG-like_dom,pfam_EGF_extracell,smart_VWF_A,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_VWF_A - no_errors VWA2 HGNC ENSG00000165816 tier1 - - 34 0 0.00 27 9 25.00 WDR33 0 genome.wustl.edu 37 2 128476957 128476957 + Missense_Mutation SNP G G T TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 2 128476957 128476957 G T SNP WDR33 ENST00000322313 human ensembl 74_37 -1 known missense c.2642 p.P881H 1.000 NULL pfam_WD40_repeat,pfam_Collagen,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR33 HGNC ENSG00000136709 48 0 0.00 50 3 5.66 WHAMM 0 genome.wustl.edu 37 15 83499739 83499739 + Missense_Mutation SNP G G A TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 15 83499739 83499739 G A SNP WHAMM ENST00000286760 human ensembl 74_37 +1 known missense c.2030 p.R677Q 0.000 NULL superfamily_tRNA-bd_arm,pfscan_WH2_dom - no_errors WHAMM HGNC ENSG00000156232 tier1 - - 13 0 0.00 2 4 66.67 WWOX 0 genome.wustl.edu 37 16 78458795 78458795 + Missense_Mutation SNP G G A TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 16 78458795 78458795 G A SNP WWOX ENST00000566780 human ensembl 74_37 +1 known missense c.634 p.A212T 1.000 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH pfam_WW_dom,pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom,prints_Glc/ribitol_DH - no_errors WWOX HGNC ENSG00000186153 32 0 0.00 62 4 6.06 ZBTB18 0 genome.wustl.edu 37 1 244217428 244217428 + Missense_Mutation SNP A A G TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 1 244217428 244217428 A G SNP ZBTB18 ENST00000358704 human ensembl 74_37 +1 known missense c.352 p.I118V 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB18 HGNC ENSG00000179456 12 0 0.00 18 4 18.18 ZBTB24 0 genome.wustl.edu 37 6 109787701 109787701 + Missense_Mutation SNP G G T TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 6 109787701 109787701 G T SNP ZBTB24 ENST00000230122 human ensembl 74_37 -1 known missense c.1447 p.L483I 0.677 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB24 HGNC ENSG00000112365 tier1 - - 77 0 0.00 64 4 5.88 ZBTB4 0 genome.wustl.edu 37 17 7365493 7365493 + Nonsense_Mutation SNP G G T TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 17 7365493 7365493 G T SNP ZBTB4 ENST00000311403 human ensembl 74_37 -1 known nonsense c.2808 p.Y936* 1.000 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB4 HGNC ENSG00000174282 tier1 - - 92 0 0.00 54 4 6.90 ZDHHC8P1 0 genome.wustl.edu 37 22 23734933 23734933 + RNA SNP G G A TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 22 23734933 23734933 G A SNP ZDHHC8P1 ENST00000420968 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ZDHHC8P1 HGNC ENSG00000133519 65 0 0.00 59 4 6.35 ZIC5 0 genome.wustl.edu 37 13 100623848 100623848 + Missense_Mutation SNP G G T TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 13 100623848 100623848 G T SNP ZIC5 ENST00000267294 human ensembl 74_37 -1 known missense c.82 p.P28T 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZIC5 HGNC ENSG00000139800 tier1 - - 77 0 0.00 50 29 36.71 ZNF106 0 genome.wustl.edu 37 15 42743781 42743781 + Missense_Mutation SNP G G A TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 15 42743781 42743781 G A SNP ZNF106 ENST00000263805 human ensembl 74_37 -1 known missense c.620 p.S207F 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_Znf_C2H2-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors ZNF106 HGNC ENSG00000103994 tier1 - - 50 0 0.00 18 14 43.75 ZNF114 0 genome.wustl.edu 37 19 48789139 48789139 + Silent SNP A A G TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 19 48789139 48789139 A G SNP ZNF114 ENST00000315849 human ensembl 74_37 +1 known silent c.258 p.L86 0.000 NULL pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF114 HGNC ENSG00000178150 53 0 0.00 30 10 25.00 ZNF114 0 genome.wustl.edu 37 19 48789146 48789146 + Missense_Mutation SNP G G A TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 19 48789146 48789146 G A SNP ZNF114 ENST00000315849 human ensembl 74_37 +1 known missense c.265 p.D89N 0.008 NULL pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF114 HGNC ENSG00000178150 49 0 0.00 30 10 25.00 ZNF114 0 genome.wustl.edu 37 19 48789149 48789149 + Missense_Mutation SNP T T C TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 19 48789149 48789149 T C SNP ZNF114 ENST00000315849 human ensembl 74_37 +1 known missense c.268 p.W90R 0.011 NULL pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF114 HGNC ENSG00000178150 49 0 0.00 29 7 19.44 ZNF114 0 genome.wustl.edu 37 19 48789150 48789150 + Missense_Mutation SNP G G C TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 19 48789150 48789150 G C SNP ZNF114 ENST00000315849 human ensembl 74_37 +1 known missense c.269 p.W90S 0.007 NULL pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF114 HGNC ENSG00000178150 48 0 0.00 29 7 19.44 ZNF320 0 genome.wustl.edu 37 19 53385026 53385026 + Missense_Mutation SNP T T G TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 19 53385026 53385026 T G SNP ZNF320 ENST00000391781 human ensembl 74_37 -1 known missense c.353 p.K118T 0.017 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 ZNF320 HGNC ENSG00000182986 tier1 - - 101 0 0.00 75 46 38.02 ZNF607 0 genome.wustl.edu 37 19 38189351 38189351 + Missense_Mutation SNP A A G TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 19 38189351 38189351 A G SNP ZNF607 ENST00000355202 human ensembl 74_37 -1 known missense c.1681 p.Y561H 0.122 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 ZNF607 HGNC ENSG00000198182 tier1 - - 78 0 0.00 70 33 32.04 ZNF790 0 genome.wustl.edu 37 19 37310184 37310184 + Silent SNP A A G TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 19 37310184 37310184 A G SNP ZNF790 ENST00000356725 human ensembl 74_37 -1 known silent c.1062 p.T354 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF790 HGNC ENSG00000197863 tier1 - - 63 0 0.00 49 27 35.53 ZP2 0 genome.wustl.edu 37 16 21212848 21212848 + Silent SNP G G A TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f1f10810-43c1-4ab2-a33a-89e4eaee28fa a5eaf352-fd7f-449f-b7de-60660a280864 16 21212848 21212848 G A SNP ZP2 ENST00000219593 human ensembl 74_37 -1 known silent c.1536 p.N512 0.012 pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors ZP2 HGNC ENSG00000103310 41 0 0.00 29 2 6.45