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 ABHD16A 0 genome.wustl.edu 37 6 31668752 31668752 + Nonsense_Mutation SNP G G T TCGA-IG-A3YC-01A-11D-A247-09 TCGA-IG-A3YC-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c529fe8f-c004-4642-a506-93e894bc5712 648b50f7-18ce-4188-83d1-e095f4b0b98b 6 31668752 31668752 G T SNP ABHD16A ENST00000538874 human ensembl 74_37 -1 known nonsense c.15 p.C5* 1.000 NULL NULL - no_errors ABHD16A HGNC ENSG00000204427 tier1 - - 95 0 0.00 52 4 7.14 ABHD16B 0 genome.wustl.edu 37 20 62493609 62493609 + Missense_Mutation SNP C C T TCGA-IG-A3YC-01A-11D-A247-09 TCGA-IG-A3YC-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c529fe8f-c004-4642-a506-93e894bc5712 648b50f7-18ce-4188-83d1-e095f4b0b98b 20 62493609 62493609 C T SNP ABHD16B ENST00000369916 human ensembl 74_37 +1 known missense c.716 p.A239V 0.002 pfam_AB_hydrolase_1 pfam_AB_hydrolase_1 - no_errors ABHD16B HGNC ENSG00000183260 tier1 - - 42 0 0.00 21 7 25.00 ACACB 0 genome.wustl.edu 37 12 109702980 109702980 + Missense_Mutation SNP G G C TCGA-IG-A3YC-01A-11D-A247-09 TCGA-IG-A3YC-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c529fe8f-c004-4642-a506-93e894bc5712 648b50f7-18ce-4188-83d1-e095f4b0b98b 12 109702980 109702980 G C SNP ACACB ENST00000338432 human ensembl 74_37 +1 known missense c.7008 p.E2336D 1.000 NULL pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl - no_errors ACACB HGNC ENSG00000076555 tier1 - - 82 0 0.00 25 11 30.56 AGPAT4 0 genome.wustl.edu 37 6 161653159 161653159 + Missense_Mutation SNP G G T TCGA-IG-A3YC-01A-11D-A247-09 TCGA-IG-A3YC-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c529fe8f-c004-4642-a506-93e894bc5712 648b50f7-18ce-4188-83d1-e095f4b0b98b 6 161653159 161653159 G T SNP AGPAT4 ENST00000320285 human ensembl 74_37 -1 known missense c.87 p.N29K 1.000 NULL pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase - no_errors AGPAT4 HGNC ENSG00000026652 tier1 - - 52 0 0.00 29 4 12.12 ANAPC1 0 genome.wustl.edu 37 2 112620071 112620071 + Missense_Mutation SNP G G C TCGA-IG-A3YC-01A-11D-A247-09 TCGA-IG-A3YC-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c529fe8f-c004-4642-a506-93e894bc5712 648b50f7-18ce-4188-83d1-e095f4b0b98b 2 112620071 112620071 G C SNP ANAPC1 ENST00000341068 human ensembl 74_37 -1 known missense c.1157 p.S386C 1.000 NULL NULL - no_errors ANAPC1 HGNC ENSG00000153107 122 0 0.00 66 4 5.63 AP3B1 0 genome.wustl.edu 37 5 77511947 77511947 + Missense_Mutation SNP C C G TCGA-IG-A3YC-01A-11D-A247-09 TCGA-IG-A3YC-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c529fe8f-c004-4642-a506-93e894bc5712 648b50f7-18ce-4188-83d1-e095f4b0b98b 5 77511947 77511947 C G SNP AP3B1 ENST00000255194 human ensembl 74_37 -1 known missense c.718 p.G240R 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_beta pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_beta - no_errors AP3B1 HGNC ENSG00000132842 tier1 - - 71 0 0.00 37 10 21.28 APH1A 0 genome.wustl.edu 37 1 150238905 150238905 + RNA SNP G G A TCGA-IG-A3YC-01A-11D-A247-09 TCGA-IG-A3YC-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c529fe8f-c004-4642-a506-93e894bc5712 648b50f7-18ce-4188-83d1-e095f4b0b98b 1 150238905 150238905 G A SNP APH1A ENST00000461320 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors APH1A HGNC ENSG00000117362 tier1 - - 95 0 0.00 47 6 11.32 ARMC3 0 genome.wustl.edu 37 10 23292215 23292215 + Missense_Mutation SNP C C T TCGA-IG-A3YC-01A-11D-A247-09 TCGA-IG-A3YC-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c529fe8f-c004-4642-a506-93e894bc5712 648b50f7-18ce-4188-83d1-e095f4b0b98b 10 23292215 23292215 C T SNP ARMC3 ENST00000298032 human ensembl 74_37 +1 known missense c.1603 p.R535W 0.995 NULL pfam_Armadillo,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors ARMC3 HGNC ENSG00000165309 tier1 rs148669748 - 56 0 0.00 25 11 30.56 ASNS 0 genome.wustl.edu 37 7 97481609 97481609 + Missense_Mutation SNP G G C TCGA-IG-A3YC-01A-11D-A247-09 TCGA-IG-A3YC-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c529fe8f-c004-4642-a506-93e894bc5712 648b50f7-18ce-4188-83d1-e095f4b0b98b 7 97481609 97481609 G C SNP ASNS ENST00000175506 human ensembl 74_37 -1 known missense c.1648 p.R550G 1.000 NULL pfam_Asn_synthase,pfam_GATase_dom,tigrfam_Asn_synth_AEB - no_errors ASNS HGNC ENSG00000070669 tier1 - - 54 0 0.00 85 5 5.56 B4GALT6 0 genome.wustl.edu 37 18 29210978 29210978 + Nonsense_Mutation SNP G G T TCGA-IG-A3YC-01A-11D-A247-09 TCGA-IG-A3YC-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c529fe8f-c004-4642-a506-93e894bc5712 648b50f7-18ce-4188-83d1-e095f4b0b98b 18 29210978 29210978 G T SNP B4GALT6 ENST00000306851 human ensembl 74_37 -1 known nonsense c.720 p.Y240* 0.340 pfam_Galactosyl_T_C,prints_Galactosyl_T pfam_Galactosyl_T_C,prints_Galactosyl_T - no_errors B4GALT6 HGNC ENSG00000118276 tier1 - - 82 0 0.00 31 8 20.51 C6orf118 0 genome.wustl.edu 37 6 165715349 165715349 + Missense_Mutation SNP C C G TCGA-IG-A3YC-01A-11D-A247-09 TCGA-IG-A3YC-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c529fe8f-c004-4642-a506-93e894bc5712 648b50f7-18ce-4188-83d1-e095f4b0b98b 6 165715349 165715349 C G SNP C6orf118 ENST00000230301 human ensembl 74_37 -1 known missense c.462 p.E154D 0.000 superfamily_Ribonuclease/ribotoxin superfamily_Ribonuclease/ribotoxin - no_errors C6orf118 HGNC ENSG00000112539 tier1 - - 62 0 0.00 24 7 22.58 CACNA2D1 0 genome.wustl.edu 37 7 81964469 81964469 + Silent SNP G G A TCGA-IG-A3YC-01A-11D-A247-09 TCGA-IG-A3YC-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c529fe8f-c004-4642-a506-93e894bc5712 648b50f7-18ce-4188-83d1-e095f4b0b98b 7 81964469 81964469 G A SNP CACNA2D1 ENST00000356253 human ensembl 74_37 -1 known silent c.276 p.N92 1.000 NULL pfam_VDCC_a2/dsu,pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D1 HGNC ENSG00000153956 tier1 - - 80 0 0.00 37 8 17.78 CAMSAP2 0 genome.wustl.edu 37 1 200730051 200730051 + Missense_Mutation SNP T T A TCGA-IG-A3YC-01A-11D-A247-09 TCGA-IG-A3YC-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c529fe8f-c004-4642-a506-93e894bc5712 648b50f7-18ce-4188-83d1-e095f4b0b98b 1 200730051 200730051 T A SNP CAMSAP2 ENST00000236925 human ensembl 74_37 +1 known missense c.224 p.L75H 1.000 NULL pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrel-like,superfamily_CH-domain - no_errors CAMSAP2 HGNC ENSG00000118200 tier1 - - 50 0 0.00 31 6 16.22 CCDC88B 0 genome.wustl.edu 37 11 64111870 64111870 + Missense_Mutation SNP G G T TCGA-IG-A3YC-01A-11D-A247-09 TCGA-IG-A3YC-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c529fe8f-c004-4642-a506-93e894bc5712 648b50f7-18ce-4188-83d1-e095f4b0b98b 11 64111870 64111870 G T SNP CCDC88B ENST00000356786 human ensembl 74_37 +1 known missense c.1857 p.L619F 0.000 NULL pfam_Hook-related_fam - no_errors CCDC88B HGNC ENSG00000168071 tier1 - - 103 0 0.00 43 4 8.51 CD93 0 genome.wustl.edu 37 20 23066567 23066567 + Missense_Mutation SNP G G T TCGA-IG-A3YC-01A-11D-A247-09 TCGA-IG-A3YC-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c529fe8f-c004-4642-a506-93e894bc5712 648b50f7-18ce-4188-83d1-e095f4b0b98b 20 23066567 23066567 G T SNP CD93 ENST00000246006 human ensembl 74_37 -1 known missense c.263 p.A88E 0.000 pirsf_CD93/CD141,pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pirsf_CD93/CD141,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_C-type_lectin,superfamily_C-type_lectin_fold,superfamily_MFS_dom_general_subst_transpt,smart_C-type_lectin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_C-type_lectin - no_errors CD93 HGNC ENSG00000125810 tier1 - - 122 0 0.00 73 4 5.19 CEP152 0 genome.wustl.edu 37 15 49083507 49083507 + Missense_Mutation SNP C C G TCGA-IG-A3YC-01A-11D-A247-09 TCGA-IG-A3YC-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c529fe8f-c004-4642-a506-93e894bc5712 648b50f7-18ce-4188-83d1-e095f4b0b98b 15 49083507 49083507 C G SNP CEP152 ENST00000380950 human ensembl 74_37 -1 known missense c.899 p.R300T 1.000 NULL NULL - no_errors CEP152 HGNC ENSG00000103995 tier1 - - 95 0 0.00 48 4 7.69 CHAC2 0 genome.wustl.edu 37 2 54001489 54001489 + Missense_Mutation SNP G G T TCGA-IG-A3YC-01A-11D-A247-09 TCGA-IG-A3YC-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c529fe8f-c004-4642-a506-93e894bc5712 648b50f7-18ce-4188-83d1-e095f4b0b98b 2 54001489 54001489 G T SNP CHAC2 ENST00000295304 human ensembl 74_37 +1 known missense c.382 p.A128S 1.000 pfam_ChaC pfam_ChaC - no_errors CHAC2 HGNC ENSG00000143942 tier1 - - 66 0 0.00 25 3 10.71 CHRM3 0 genome.wustl.edu 37 1 240072404 240072404 + Silent SNP C C T TCGA-IG-A3YC-01A-11D-A247-09 TCGA-IG-A3YC-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c529fe8f-c004-4642-a506-93e894bc5712 648b50f7-18ce-4188-83d1-e095f4b0b98b 1 240072404 240072404 C T SNP CHRM3 ENST00000255380 human ensembl 74_37 +1 known silent c.1653 p.F551 1.000 prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M3_rcpt,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn - no_errors CHRM3 HGNC ENSG00000133019 tier1 - - 79 0 0.00 50 9 15.25 CNTNAP4 0 genome.wustl.edu 37 16 76461364 76461364 + Missense_Mutation SNP G G T TCGA-IG-A3YC-01A-11D-A247-09 TCGA-IG-A3YC-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c529fe8f-c004-4642-a506-93e894bc5712 648b50f7-18ce-4188-83d1-e095f4b0b98b 16 76461364 76461364 G T SNP CNTNAP4 ENST00000307431 human ensembl 74_37 +1 known missense c.403 p.A135S 1.000 pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP4 HGNC ENSG00000152910 tier1 - - 92 0 0.00 45 4 8.16 COL5A3 0 genome.wustl.edu 37 19 10083616 10083616 + Silent SNP C C T TCGA-IG-A3YC-01A-11D-A247-09 TCGA-IG-A3YC-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c529fe8f-c004-4642-a506-93e894bc5712 648b50f7-18ce-4188-83d1-e095f4b0b98b 19 10083616 10083616 C T SNP COL5A3 ENST00000264828 human ensembl 74_37 -1 known silent c.3753 p.E1251 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL5A3 HGNC ENSG00000080573 tier1 - - 84 0 0.00 45 12 21.05 CPT2 0 genome.wustl.edu 37 1 53675749 53675749 + Missense_Mutation SNP A A G TCGA-IG-A3YC-01A-11D-A247-09 TCGA-IG-A3YC-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c529fe8f-c004-4642-a506-93e894bc5712 648b50f7-18ce-4188-83d1-e095f4b0b98b 1 53675749 53675749 A G SNP CPT2 ENST00000371486 human ensembl 74_37 +1 known missense c.403 p.M135V 1.000 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CPT2 HGNC ENSG00000157184 58 0 0.00 32 3 8.57 DACH2 0 genome.wustl.edu 37 X 85997699 85997699 + Missense_Mutation SNP A A C TCGA-IG-A3YC-01A-11D-A247-09 TCGA-IG-A3YC-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c529fe8f-c004-4642-a506-93e894bc5712 648b50f7-18ce-4188-83d1-e095f4b0b98b X 85997699 85997699 A C SNP DACH2 ENST00000461604 human ensembl 74_37 +1 known missense c.1294 p.T432P 0.954 NULL pfam_Transform_Ski,superfamily_DNA-bd_dom_put - no_errors DACH2 HGNC ENSG00000126733 tier1 - - 74 0 0.00 29 6 17.14 DEPDC1B 0 genome.wustl.edu 37 5 59982979 59982979 + Missense_Mutation SNP G G T TCGA-IG-A3YC-01A-11D-A247-09 TCGA-IG-A3YC-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c529fe8f-c004-4642-a506-93e894bc5712 648b50f7-18ce-4188-83d1-e095f4b0b98b 5 59982979 59982979 G T SNP DEPDC1B ENST00000265036 human ensembl 74_37 -1 known missense c.124 p.H42N 0.086 pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom pfam_DEP_dom,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_DEP_dom,pfscan_DEP_dom,pfscan_RhoGAP_dom - no_errors DEPDC1B HGNC ENSG00000035499 64 0 0.00 42 3 6.67 DHX37 0 genome.wustl.edu 37 12 125434711 125434711 + Missense_Mutation SNP A A T TCGA-IG-A3YC-01A-11D-A247-09 TCGA-IG-A3YC-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c529fe8f-c004-4642-a506-93e894bc5712 648b50f7-18ce-4188-83d1-e095f4b0b98b 12 125434711 125434711 A T SNP DHX37 ENST00000308736 human ensembl 74_37 -1 known missense c.3200 p.F1067Y 1.000 NULL pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_T2SS_protein-E,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX37 HGNC ENSG00000150990 tier1 - - 150 0 0.00 75 6 7.41 DNM1P47 0 genome.wustl.edu 37 15 102304719 102304719 + RNA SNP C C A TCGA-IG-A3YC-01A-11D-A247-09 TCGA-IG-A3YC-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c529fe8f-c004-4642-a506-93e894bc5712 648b50f7-18ce-4188-83d1-e095f4b0b98b 15 102304719 102304719 C A SNP DNM1P47 ENST00000561463 human ensembl 74_37 +1 known rna NULL NULL 0.990 - - - no_errors DNM1P47 HGNC ENSG00000259660 tier1 - - 80 0 0.00 34 4 10.53 DXO 0 genome.wustl.edu 37 6 31939108 31939108 + Silent SNP G G T TCGA-IG-A3YC-01A-11D-A247-09 TCGA-IG-A3YC-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c529fe8f-c004-4642-a506-93e894bc5712 648b50f7-18ce-4188-83d1-e095f4b0b98b 6 31939108 31939108 G T SNP DXO ENST00000337523 human ensembl 74_37 -1 known silent c.345 p.G115 0.998 NULL pfam_RAI1 - no_errors DXO HGNC ENSG00000204348 101 0 0.00 57 4 6.56 DYRK1B 0 genome.wustl.edu 37 19 40319120 40319120 + Silent SNP G G A TCGA-IG-A3YC-01A-11D-A247-09 TCGA-IG-A3YC-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c529fe8f-c004-4642-a506-93e894bc5712 648b50f7-18ce-4188-83d1-e095f4b0b98b 19 40319120 40319120 G A SNP DYRK1B ENST00000323039 human ensembl 74_37 -1 known silent c.624 p.G208 0.190 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 DYRK1B HGNC ENSG00000105204 59 0 0.00 36 3 7.69 EDIL3 0 genome.wustl.edu 37 5 83239272 83239272 + Missense_Mutation SNP C C T TCGA-IG-A3YC-01A-11D-A247-09 TCGA-IG-A3YC-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c529fe8f-c004-4642-a506-93e894bc5712 648b50f7-18ce-4188-83d1-e095f4b0b98b 5 83239272 83239272 C T SNP EDIL3 ENST00000296591 human ensembl 74_37 -1 known missense c.1409 p.R470Q 1.000 pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,pfam_EGF_extracell,superfamily_Galactose-bd-like,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Coagulation_fac_5/8-C_type_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors EDIL3 HGNC ENSG00000164176 tier1 - - 152 0 0.00 67 6 8.22 ENSG00000173213 0 genome.wustl.edu 37 18 49110 49110 + Missense_Mutation SNP A A G TCGA-IG-A3YC-01A-11D-A247-09 TCGA-IG-A3YC-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c529fe8f-c004-4642-a506-93e894bc5712 648b50f7-18ce-4188-83d1-e095f4b0b98b 18 49110 49110 A G SNP ENSG00000173213 ENST00000573909 human ensembl 74_37 -1 putative missense c.109 p.S37P 0.863 smart_Tubulin_FtsZ_GTPase pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin - no_errors RP11-683L23.1 Clone_based_vega_gene ENSG00000173213 tier1 rs62075714 - 47 0 0.00 27 7 20.59 ENSG00000199959 0 genome.wustl.edu 37 1 84743069 84743069 + RNA SNP G G A TCGA-IG-A3YC-01A-11D-A247-09 TCGA-IG-A3YC-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c529fe8f-c004-4642-a506-93e894bc5712 648b50f7-18ce-4188-83d1-e095f4b0b98b 1 84743069 84743069 G A SNP ENSG00000199959 ENST00000363089 human ensembl 74_37 +1 known rna NULL NULL 0.986 - - - no_errors SNORA2 RFAM ENSG00000199959 tier1 - - 16 0 0.00 13 4 23.53 ENSG00000249428 0 genome.wustl.edu 37 4 2451713 2451713 + Missense_Mutation SNP C C A TCGA-IG-A3YC-01A-11D-A247-09 TCGA-IG-A3YC-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c529fe8f-c004-4642-a506-93e894bc5712 648b50f7-18ce-4188-83d1-e095f4b0b98b 4 2451713 2451713 C A SNP ENSG00000249428 ENST00000506607 human ensembl 74_37 +1 putative missense c.11 p.S4Y 0.003 NULL NULL - no_errors RP11-503N18.3 Clone_based_vega_gene ENSG00000249428 tier1 - - 94 0 0.00 44 4 8.33 ENSG00000251273 0 genome.wustl.edu 37 5 25190700 25190700 + RNA SNP G G A TCGA-IG-A3YC-01A-11D-A247-09 TCGA-IG-A3YC-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c529fe8f-c004-4642-a506-93e894bc5712 648b50f7-18ce-4188-83d1-e095f4b0b98b 5 25190700 25190700 G A SNP ENSG00000251273 ENST00000507600 human ensembl 74_37 -1 known rna NULL NULL 0.013 - - - no_errors RP11-549K20.1 Clone_based_vega_gene ENSG00000251273 tier1 - - 34 0 0.00 22 6 21.43 ENSG00000255622 0 genome.wustl.edu 37 5 140537168 140537168 + Missense_Mutation SNP G G A TCGA-IG-A3YC-01A-11D-A247-09 TCGA-IG-A3YC-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c529fe8f-c004-4642-a506-93e894bc5712 648b50f7-18ce-4188-83d1-e095f4b0b98b 5 140537168 140537168 G A SNP ENSG00000255622 ENST00000539533 human ensembl 74_37 +1 known missense c.1592 p.R531H 0.001 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB17 Uniprot_gn ENSG00000255622 tier1 - - 251 0 0.00 125 7 5.30 EPB41L3 0 genome.wustl.edu 37 18 5428401 5428401 + Silent SNP G G T TCGA-IG-A3YC-01A-11D-A247-09 TCGA-IG-A3YC-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c529fe8f-c004-4642-a506-93e894bc5712 648b50f7-18ce-4188-83d1-e095f4b0b98b 18 5428401 5428401 G T SNP EPB41L3 ENST00000341928 human ensembl 74_37 -1 known silent c.976 p.R326 1.000 pirsf_Band_41_protein,pfam_FERM_PH-like_C,pfscan_FERM_domain pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB_dom,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors EPB41L3 HGNC ENSG00000082397 67 0 0.00 35 3 7.89 ERV3-1 0 genome.wustl.edu 37 7 64452476 64452476 + Missense_Mutation SNP T T A TCGA-IG-A3YC-01A-11D-A247-09 TCGA-IG-A3YC-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c529fe8f-c004-4642-a506-93e894bc5712 648b50f7-18ce-4188-83d1-e095f4b0b98b 7 64452476 64452476 T A SNP ERV3-1 ENST00000394323 human ensembl 74_37 -1 known missense c.929 p.E310V 0.158 NULL NULL - no_errors ERV3-1 HGNC ENSG00000213462 tier1 - - 107 0 0.00 53 11 17.19 EYS 0 genome.wustl.edu 37 6 65146103 65146103 + Missense_Mutation SNP C C T TCGA-IG-A3YC-01A-11D-A247-09 TCGA-IG-A3YC-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c529fe8f-c004-4642-a506-93e894bc5712 648b50f7-18ce-4188-83d1-e095f4b0b98b 6 65146103 65146103 C T SNP EYS ENST00000370616 human ensembl 74_37 -1 known missense c.5891 p.R1964K 0.926 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors EYS HGNC ENSG00000188107 tier1 - - 71 0 0.00 36 8 18.18 EYS 0 genome.wustl.edu 37 6 66200582 66200582 + Missense_Mutation SNP A A T TCGA-IG-A3YC-01A-11D-A247-09 TCGA-IG-A3YC-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c529fe8f-c004-4642-a506-93e894bc5712 648b50f7-18ce-4188-83d1-e095f4b0b98b 6 66200582 66200582 A T SNP EYS ENST00000370616 human ensembl 74_37 -1 known missense c.767 p.I256K 1.000 pfscan_EG-like_dom pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors EYS HGNC ENSG00000188107 tier1 - - 74 0 0.00 38 8 17.39 FAM160A2 0 genome.wustl.edu 37 11 6239886 6239886 + Missense_Mutation SNP C C G TCGA-IG-A3YC-01A-11D-A247-09 TCGA-IG-A3YC-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c529fe8f-c004-4642-a506-93e894bc5712 648b50f7-18ce-4188-83d1-e095f4b0b98b 11 6239886 6239886 C G SNP FAM160A2 ENST00000265978 human ensembl 74_37 -1 known missense c.1379 p.C460S 1.000 NULL pfam_RetinoicA-induced_16-like - no_errors FAM160A2 HGNC ENSG00000051009 64 0 0.00 32 3 8.57 FAM83E 0 genome.wustl.edu 37 19 49113245 49113245 + Missense_Mutation SNP G G A TCGA-IG-A3YC-01A-11D-A247-09 TCGA-IG-A3YC-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c529fe8f-c004-4642-a506-93e894bc5712 648b50f7-18ce-4188-83d1-e095f4b0b98b 19 49113245 49113245 G A SNP FAM83E ENST00000263266 human ensembl 74_37 -1 known missense c.646 p.R216C 0.970 pfam_DUF1669 pfam_DUF1669,superfamily_Acyl_CoA_acyltransferase - no_errors FAM83E HGNC ENSG00000105523 tier1 - - 81 0 0.00 36 17 32.08 FGF14 0 genome.wustl.edu 37 13 102379101 102379101 + Missense_Mutation SNP G G C TCGA-IG-A3YC-01A-11D-A247-09 TCGA-IG-A3YC-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c529fe8f-c004-4642-a506-93e894bc5712 648b50f7-18ce-4188-83d1-e095f4b0b98b 13 102379101 102379101 G C SNP FGF14 ENST00000376131 human ensembl 74_37 -1 known missense c.483 p.I161M 1.000 pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam - no_errors FGF14 HGNC ENSG00000102466 tier1 - - 78 0 0.00 43 15 25.86 FMN1 0 genome.wustl.edu 37 15 33066543 33066543 + Missense_Mutation SNP G G A TCGA-IG-A3YC-01A-11D-A247-09 TCGA-IG-A3YC-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c529fe8f-c004-4642-a506-93e894bc5712 648b50f7-18ce-4188-83d1-e095f4b0b98b 15 33066543 33066543 G A SNP FMN1 ENST00000334528 human ensembl 74_37 -1 known missense c.3559 p.R1187C 1.000 prints_Formin_Cappuccino_subfam pfam_FH2_Formin,smart_FH2_Formin,prints_Formin_Cappuccino_subfam - no_errors FMN1 HGNC ENSG00000248905 tier1 - - 96 0 0.00 24 9 27.27 GABPB1 0 genome.wustl.edu 37 15 50596184 50596184 + Missense_Mutation SNP G G T TCGA-IG-A3YC-01A-11D-A247-09 TCGA-IG-A3YC-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c529fe8f-c004-4642-a506-93e894bc5712 648b50f7-18ce-4188-83d1-e095f4b0b98b 15 50596184 50596184 G T SNP GABPB1 ENST00000220429 human ensembl 74_37 -1 known missense c.255 p.S85R 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors GABPB1 HGNC ENSG00000104064 80 0 0.00 34 3 8.11 GBP1 0 genome.wustl.edu 37 1 89523677 89523677 + Missense_Mutation SNP G G T TCGA-IG-A3YC-01A-11D-A247-09 TCGA-IG-A3YC-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c529fe8f-c004-4642-a506-93e894bc5712 648b50f7-18ce-4188-83d1-e095f4b0b98b 1 89523677 89523677 G T SNP GBP1 ENST00000370473 human ensembl 74_37 -1 known missense c.872 p.P291H 0.876 pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C pfam_Guanylate-bd_C,pfam_Guanylate-bd_N,superfamily_Guanylate-bd_C,superfamily_P-loop_NTPase - no_errors GBP1 HGNC ENSG00000117228 52 0 0.00 30 3 9.09 GDF3 0 genome.wustl.edu 37 12 7842645 7842645 + Silent SNP G G A TCGA-IG-A3YC-01A-11D-A247-09 TCGA-IG-A3YC-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c529fe8f-c004-4642-a506-93e894bc5712 648b50f7-18ce-4188-83d1-e095f4b0b98b 12 7842645 7842645 G A SNP GDF3 ENST00000329913 human ensembl 74_37 -1 known silent c.924 p.S308 1.000 pfam_TGF-b_C,smart_TGF-b_C pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_asu - no_errors GDF3 HGNC ENSG00000184344 tier1 - - 75 0 0.00 41 6 12.77 GH2 0 genome.wustl.edu 37 17 61958788 61958788 + Silent SNP C C T TCGA-IG-A3YC-01A-11D-A247-09 TCGA-IG-A3YC-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c529fe8f-c004-4642-a506-93e894bc5712 648b50f7-18ce-4188-83d1-e095f4b0b98b 17 61958788 61958788 C T SNP GH2 ENST00000332800 human ensembl 74_37 -1 known silent c.102 p.R34 1.000 pfam_Somatotropin,superfamily_4_helix_cytokine-like_core pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin - no_errors GH2 HGNC ENSG00000136487 tier1 - - 86 0 0.00 35 5 12.50 GJE1 0 genome.wustl.edu 37 6 142455065 142455065 + Missense_Mutation SNP G G C TCGA-IG-A3YC-01A-11D-A247-09 TCGA-IG-A3YC-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c529fe8f-c004-4642-a506-93e894bc5712 648b50f7-18ce-4188-83d1-e095f4b0b98b 6 142455065 142455065 G C SNP GJE1 ENST00000450456 human ensembl 74_37 +1 known missense c.118 p.G40R 1.000 pfam_Connexin_N pfam_Connexin_CCC,pfam_Connexin_N - no_errors GJE1 HGNC ENSG00000203733 tier1 - - 148 0 0.00 63 20 24.10 GPR126 0 genome.wustl.edu 37 6 142723827 142723827 + Silent SNP T T C TCGA-IG-A3YC-01A-11D-A247-09 TCGA-IG-A3YC-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c529fe8f-c004-4642-a506-93e894bc5712 648b50f7-18ce-4188-83d1-e095f4b0b98b 6 142723827 142723827 T C SNP GPR126 ENST00000367609 human ensembl 74_37 +1 known silent c.1815 p.N605 0.998 NULL pfam_GPCR_2_secretin-like,pfam_CUB_dom,pfam_GPS_dom,pfam_Pentaxin,superfamily_CUB_dom,superfamily_ConA-like_lec_gl_sf,smart_CUB_dom,smart_Pentaxin,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR126 HGNC ENSG00000112414 tier1 - - 41 0 0.00 19 7 26.92 GRAMD1B 0 genome.wustl.edu 37 11 123480536 123480536 + Missense_Mutation SNP A A T TCGA-IG-A3YC-01A-11D-A247-09 TCGA-IG-A3YC-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c529fe8f-c004-4642-a506-93e894bc5712 648b50f7-18ce-4188-83d1-e095f4b0b98b 11 123480536 123480536 A T SNP GRAMD1B ENST00000322282 human ensembl 74_37 +1 known missense c.1262 p.N421I 0.282 NULL pfam_GRAM,smart_GRAM - no_errors GRAMD1B HGNC ENSG00000023171 tier1 - - 98 0 0.00 35 8 18.60 GUCY2D 0 genome.wustl.edu 37 17 7919550 7919550 + Missense_Mutation SNP C C A TCGA-IG-A3YC-01A-11D-A247-09 TCGA-IG-A3YC-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c529fe8f-c004-4642-a506-93e894bc5712 648b50f7-18ce-4188-83d1-e095f4b0b98b 17 7919550 7919550 C A SNP GUCY2D ENST00000254854 human ensembl 74_37 +1 known missense c.3166 p.L1056I 1.000 pfam_A/G_cyclase,superfamily_A/G_cyclase pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Haem_no_assoc-bd,superfamily_Peripla_BP_I,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors GUCY2D HGNC ENSG00000132518 tier1 - - 96 0 0.00 48 13 21.31 H3F3B 0 genome.wustl.edu 37 17 73774199 73774200 + RNA INS - - T TCGA-IG-A3YC-01A-11D-A247-09 TCGA-IG-A3YC-10A-01D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c529fe8f-c004-4642-a506-93e894bc5712 648b50f7-18ce-4188-83d1-e095f4b0b98b 17 73774199 73774200 - T INS H3F3B ENST00000593254 human ensembl 74_37 -1 known rna NULL NULL 0.995:1.000 - - - no_errors H3F3B HGNC ENSG00000132475 tier1 43 0 0.00 28 5 15.15 HCFC1 0 genome.wustl.edu 37 X 153220290 153220290 + Missense_Mutation SNP C C A TCGA-IG-A3YC-01A-11D-A247-09 TCGA-IG-A3YC-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c529fe8f-c004-4642-a506-93e894bc5712 648b50f7-18ce-4188-83d1-e095f4b0b98b X 153220290 153220290 C A SNP HCFC1 ENST00000310441 human ensembl 74_37 -1 known missense c.3560 p.C1187F 0.058 NULL pfam_Kelch_2,pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3 - no_errors HCFC1 HGNC ENSG00000172534 tier1 - - 13 0 0.00 10 4 28.57 HEATR5A 0 genome.wustl.edu 37 14 31774121 31774121 + Missense_Mutation SNP G G C TCGA-IG-A3YC-01A-11D-A247-09 TCGA-IG-A3YC-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c529fe8f-c004-4642-a506-93e894bc5712 648b50f7-18ce-4188-83d1-e095f4b0b98b 14 31774121 31774121 G C SNP HEATR5A ENST00000389961 human ensembl 74_37 -1 known missense c.5211 p.C1737W 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR5A HGNC ENSG00000129493 tier1 - - 43 0 0.00 24 7 22.58 HIST1H3B 0 genome.wustl.edu 37 6 26031995 26031995 + Silent SNP C C T TCGA-IG-A3YC-01A-11D-A247-09 TCGA-IG-A3YC-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c529fe8f-c004-4642-a506-93e894bc5712 648b50f7-18ce-4188-83d1-e095f4b0b98b 6 26031995 26031995 C T SNP HIST1H3B ENST00000244661 human ensembl 74_37 -1 known silent c.294 p.E98 1.000 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 - no_errors HIST1H3B HGNC ENSG00000124693 tier1 - - 120 0 0.00 70 6 7.89 HLA-J 0 genome.wustl.edu 37 6 29974769 29974769 + RNA SNP T T A TCGA-IG-A3YC-01A-11D-A247-09 TCGA-IG-A3YC-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c529fe8f-c004-4642-a506-93e894bc5712 648b50f7-18ce-4188-83d1-e095f4b0b98b 6 29974769 29974769 T A SNP HLA-J ENST00000462773 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors HLA-J HGNC ENSG00000204622 tier1 - - 156 0 0.00 50 24 32.43 HNRNPU 0 genome.wustl.edu 37 1 245025801 245025803 + In_Frame_Del DEL TCT TCT - TCGA-IG-A3YC-01A-11D-A247-09 TCGA-IG-A3YC-10A-01D-A247-09 TCT TCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c529fe8f-c004-4642-a506-93e894bc5712 648b50f7-18ce-4188-83d1-e095f4b0b98b 1 245025801 245025803 TCT - DEL HNRNPU ENST00000283179 human ensembl 74_37 -1 known in_frame_del c.839_837 p.E279in_frame_del 1.000:1.000:1.000 superfamily_ConA-like_lec_gl_sf,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_SAP_dom,pfam_Zeta_toxin_domain,superfamily_ConA-like_lec_gl_sf,superfamily_P-loop_NTPase,smart_SAP_dom,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_SAP_dom - no_errors HNRNPU HGNC ENSG00000153187 tier1 128 0 0.00 71 13 15.48 HSPB7 0 genome.wustl.edu 37 1 16342202 16342202 + Missense_Mutation SNP G G A TCGA-IG-A3YC-01A-11D-A247-09 TCGA-IG-A3YC-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c529fe8f-c004-4642-a506-93e894bc5712 648b50f7-18ce-4188-83d1-e095f4b0b98b 1 16342202 16342202 G A SNP HSPB7 ENST00000487046 human ensembl 74_37 -1 known missense c.401 p.P134L 0.997 pfam_a-crystallin/Hsp20_dom,superfamily_HSP20-like_chaperone,pfscan_a-crystallin/Hsp20_dom pfam_a-crystallin/Hsp20_dom,superfamily_HSP20-like_chaperone,pfscan_a-crystallin/Hsp20_dom,prints_Alpha-crystallin/HSP - no_errors HSPB7 HGNC ENSG00000173641 tier1 - - 71 0 0.00 45 9 16.67 HYOU1 0 genome.wustl.edu 37 11 118922241 118922241 + Missense_Mutation SNP G G A TCGA-IG-A3YC-01A-11D-A247-09 TCGA-IG-A3YC-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c529fe8f-c004-4642-a506-93e894bc5712 648b50f7-18ce-4188-83d1-e095f4b0b98b 11 118922241 118922241 G A SNP HYOU1 ENST00000404233 human ensembl 74_37 -1 known missense c.1435 p.R479C 1.000 pfam_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HYOU1 HGNC ENSG00000149428 tier1 rs139920723 - 165 0 0.00 68 6 8.11 IL7R 0 genome.wustl.edu 37 5 35876573 35876573 + Missense_Mutation SNP C C G TCGA-IG-A3YC-01A-11D-A247-09 TCGA-IG-A3YC-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c529fe8f-c004-4642-a506-93e894bc5712 648b50f7-18ce-4188-83d1-e095f4b0b98b 5 35876573 35876573 C G SNP IL7R ENST00000303115 human ensembl 74_37 +1 known missense c.1365 p.F455L 1.000 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3 - no_errors IL7R HGNC ENSG00000168685 tier1 - - 75 0 0.00 61 7 10.29 KRTAP4-3 0 genome.wustl.edu 37 17 39324398 39324398 + Silent SNP G G A TCGA-IG-A3YC-01A-11D-A247-09 TCGA-IG-A3YC-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c529fe8f-c004-4642-a506-93e894bc5712 648b50f7-18ce-4188-83d1-e095f4b0b98b 17 39324398 39324398 G A SNP KRTAP4-3 ENST00000391356 human ensembl 74_37 -1 known silent c.27 p.V9 0.656 pfam_Keratin-assoc pfam_Keratin-assoc - no_errors KRTAP4-3 HGNC ENSG00000196156 tier1 - - 186 0 0.00 80 21 20.59 LOC100506060 0 genome.wustl.edu 37 16 70253716 70253716 + RNA SNP T T A TCGA-IG-A3YC-01A-11D-A247-09 TCGA-IG-A3YC-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c529fe8f-c004-4642-a506-93e894bc5712 648b50f7-18ce-4188-83d1-e095f4b0b98b 16 70253716 70253716 T A SNP LOC100506060 ENST00000573141 human ensembl 74_37 -1 known rna NULL NULL 0.109 - - - no_errors RP11-296I10.6 Clone_based_vega_gene ENSG00000261556 tier1 rs145600612 - 75 0 0.00 68 8 10.39 LRP1B 0 genome.wustl.edu 37 2 141665564 141665564 + Missense_Mutation SNP G G T TCGA-IG-A3YC-01A-11D-A247-09 TCGA-IG-A3YC-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c529fe8f-c004-4642-a506-93e894bc5712 648b50f7-18ce-4188-83d1-e095f4b0b98b 2 141665564 141665564 G T SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.3402 p.F1134L 0.726 superfamily_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 tier1 - - 60 0 0.00 15 4 21.05 LRRC56 0 genome.wustl.edu 37 11 550123 550123 + Missense_Mutation SNP C C A TCGA-IG-A3YC-01A-11D-A247-09 TCGA-IG-A3YC-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c529fe8f-c004-4642-a506-93e894bc5712 648b50f7-18ce-4188-83d1-e095f4b0b98b 11 550123 550123 C A SNP LRRC56 ENST00000270115 human ensembl 74_37 +1 known missense c.475 p.L159M 1.000 NULL NULL - no_errors LRRC56 HGNC ENSG00000161328 tier1 - - 109 0 0.00 45 8 15.09 MED12L 0 genome.wustl.edu 37 3 150883635 150883635 + Missense_Mutation SNP G G C TCGA-IG-A3YC-01A-11D-A247-09 TCGA-IG-A3YC-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c529fe8f-c004-4642-a506-93e894bc5712 648b50f7-18ce-4188-83d1-e095f4b0b98b 3 150883635 150883635 G C SNP MED12L ENST00000474524 human ensembl 74_37 +1 known missense c.1360 p.V454L 1.000 pfam_Mediator_Med12_LCEWAV pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd - no_errors MED12L HGNC ENSG00000144893 tier1 - - 97 0 0.00 32 4 11.11 MGST3 0 genome.wustl.edu 37 1 165620279 165620279 + Missense_Mutation SNP A A T TCGA-IG-A3YC-01A-11D-A247-09 TCGA-IG-A3YC-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c529fe8f-c004-4642-a506-93e894bc5712 648b50f7-18ce-4188-83d1-e095f4b0b98b 1 165620279 165620279 A T SNP MGST3 ENST00000367886 human ensembl 74_37 +1 known missense c.188 p.E63V 1.000 pfam_Membr-assoc_MAPEG pfam_Membr-assoc_MAPEG - no_errors MGST3 HGNC ENSG00000143198 tier1 - - 124 0 0.00 67 11 14.10 MPP5 0 genome.wustl.edu 37 14 67799567 67799567 + Missense_Mutation SNP C C T TCGA-IG-A3YC-01A-11D-A247-09 TCGA-IG-A3YC-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c529fe8f-c004-4642-a506-93e894bc5712 648b50f7-18ce-4188-83d1-e095f4b0b98b 14 67799567 67799567 C T SNP MPP5 ENST00000261681 human ensembl 74_37 +1 known missense c.1922 p.T641M 0.999 pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,smart_GK/Ca_channel_bsu,pfscan_Guanylate_kin-like pfam_GK/Ca_channel_bsu,pfam_L27_N,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,pfam_L27_C,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors MPP5 HGNC ENSG00000072415 tier1 - - 67 0 0.00 41 4 8.89 MYB 0 genome.wustl.edu 37 6 135539216 135539216 + RNA SNP C C A TCGA-IG-A3YC-01A-11D-A247-09 TCGA-IG-A3YC-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c529fe8f-c004-4642-a506-93e894bc5712 648b50f7-18ce-4188-83d1-e095f4b0b98b 6 135539216 135539216 C A SNP MYB ENST00000531845 human ensembl 74_37 +1 known rna NULL NULL 0.899 - - - no_errors MYB HGNC ENSG00000118513 tier1 - - 70 0 0.00 28 4 12.50 MYO9A 0 genome.wustl.edu 37 15 72190310 72190310 + Missense_Mutation SNP T T C TCGA-IG-A3YC-01A-11D-A247-09 TCGA-IG-A3YC-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c529fe8f-c004-4642-a506-93e894bc5712 648b50f7-18ce-4188-83d1-e095f4b0b98b 15 72190310 72190310 T C SNP MYO9A ENST00000424560 human ensembl 74_37 -1 known missense c.4534 p.M1512V 1.000 NULL pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom - no_errors MYO9A HGNC ENSG00000066933 tier1 - - 169 0 0.00 89 7 7.29 NAP1L3 0 genome.wustl.edu 37 X 92927199 92927199 + Silent SNP T T G TCGA-IG-A3YC-01A-11D-A247-09 TCGA-IG-A3YC-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c529fe8f-c004-4642-a506-93e894bc5712 648b50f7-18ce-4188-83d1-e095f4b0b98b X 92927199 92927199 T G SNP NAP1L3 ENST00000373079 human ensembl 74_37 -1 known silent c.1105 p.R369 0.996 pfam_NAP_family pfam_NAP_family - no_errors NAP1L3 HGNC ENSG00000186310 tier1 - - 38 0 0.00 10 3 23.08 NCKAP5 0 genome.wustl.edu 37 2 133483202 133483202 + Missense_Mutation SNP G G T TCGA-IG-A3YC-01A-11D-A247-09 TCGA-IG-A3YC-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c529fe8f-c004-4642-a506-93e894bc5712 648b50f7-18ce-4188-83d1-e095f4b0b98b 2 133483202 133483202 G T SNP NCKAP5 ENST00000317721 human ensembl 74_37 -1 known missense c.5711 p.P1904Q 0.368 NULL NULL - no_errors NCKAP5 HGNC ENSG00000176771 tier1 - - 94 0 0.00 41 4 8.89 NKD2 0 genome.wustl.edu 37 5 1034951 1034951 + Silent SNP C C T TCGA-IG-A3YC-01A-11D-A247-09 TCGA-IG-A3YC-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c529fe8f-c004-4642-a506-93e894bc5712 648b50f7-18ce-4188-83d1-e095f4b0b98b 5 1034951 1034951 C T SNP NKD2 ENST00000296849 human ensembl 74_37 +1 known silent c.507 p.L169 0.949 NULL pfscan_EF_hand_dom - no_errors NKD2 HGNC ENSG00000145506 tier1 - - 48 0 0.00 30 6 16.67 NLRP1 0 genome.wustl.edu 37 17 5434003 5434003 + Silent SNP G G T TCGA-IG-A3YC-01A-11D-A247-09 TCGA-IG-A3YC-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c529fe8f-c004-4642-a506-93e894bc5712 648b50f7-18ce-4188-83d1-e095f4b0b98b 17 5434003 5434003 G T SNP NLRP1 ENST00000572272 human ensembl 74_37 -1 known silent c.3318 p.G1106 0.810 NULL pfam_CARD,pfam_DAPIN,pfam_Leu-rich_rpt,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD,pfscan_DAPIN,prints_Disease_R - no_errors NLRP1 HGNC ENSG00000091592 43 0 0.00 26 3 10.34 NOL9 0 genome.wustl.edu 37 1 6610498 6610498 + Missense_Mutation SNP T T C TCGA-IG-A3YC-01A-11D-A247-09 TCGA-IG-A3YC-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c529fe8f-c004-4642-a506-93e894bc5712 648b50f7-18ce-4188-83d1-e095f4b0b98b 1 6610498 6610498 T C SNP NOL9 ENST00000377705 human ensembl 74_37 -1 known missense c.574 p.K192E 0.043 NULL pfam_Pre-mRNA_cleavage_cplxII_Clp1,superfamily_P-loop_NTPase - no_errors NOL9 HGNC ENSG00000162408 tier1 - - 102 0 0.00 48 11 18.64 NRCAM 0 genome.wustl.edu 37 7 107872803 107872803 + Missense_Mutation SNP C C A TCGA-IG-A3YC-01A-11D-A247-09 TCGA-IG-A3YC-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c529fe8f-c004-4642-a506-93e894bc5712 648b50f7-18ce-4188-83d1-e095f4b0b98b 7 107872803 107872803 C A SNP NRCAM ENST00000379028 human ensembl 74_37 -1 known missense c.394 p.A132S 1.000 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom 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 - - 84 0 0.00 91 9 9.00 OR2M2 0 genome.wustl.edu 37 1 248344165 248344165 + Missense_Mutation SNP G G A TCGA-IG-A3YC-01A-11D-A247-09 TCGA-IG-A3YC-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c529fe8f-c004-4642-a506-93e894bc5712 648b50f7-18ce-4188-83d1-e095f4b0b98b 1 248344165 248344165 G A SNP OR2M2 ENST00000359682 human ensembl 74_37 +1 known missense c.878 p.R293H 0.001 prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2M2 HGNC ENSG00000198601 tier1 - - 166 0 0.00 72 11 13.10 OR6C6 0 genome.wustl.edu 37 12 55688667 55688667 + Missense_Mutation SNP G G A TCGA-IG-A3YC-01A-11D-A247-09 TCGA-IG-A3YC-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c529fe8f-c004-4642-a506-93e894bc5712 648b50f7-18ce-4188-83d1-e095f4b0b98b 12 55688667 55688667 G A SNP OR6C6 ENST00000358433 human ensembl 74_37 -1 known missense c.350 p.S117F 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6C6 HGNC ENSG00000188324 tier1 - - 80 0 0.00 38 4 9.52 OR8G1 0 genome.wustl.edu 37 11 124121122 124121122 + Missense_Mutation SNP A A G TCGA-IG-A3YC-01A-11D-A247-09 TCGA-IG-A3YC-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c529fe8f-c004-4642-a506-93e894bc5712 648b50f7-18ce-4188-83d1-e095f4b0b98b 11 124121122 124121122 A G SNP OR8G1 ENST00000341493 human ensembl 74_37 +1 known missense c.700 p.R234G 0.003 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8G1 HGNC ENSG00000197849 tier1 - - 140 0 0.00 85 7 7.61 OSBPL6 0 genome.wustl.edu 37 2 179247154 179247154 + Missense_Mutation SNP A A T TCGA-IG-A3YC-01A-11D-A247-09 TCGA-IG-A3YC-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c529fe8f-c004-4642-a506-93e894bc5712 648b50f7-18ce-4188-83d1-e095f4b0b98b 2 179247154 179247154 A T SNP OSBPL6 ENST00000315022 human ensembl 74_37 +1 known missense c.1553 p.D518V 1.000 NULL pfam_Oxysterol-bd,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL6 HGNC ENSG00000079156 tier1 - - 82 0 0.00 31 7 18.42 OSTCP1 0 genome.wustl.edu 37 6 159262436 159262436 + RNA DEL T T - TCGA-IG-A3YC-01A-11D-A247-09 TCGA-IG-A3YC-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c529fe8f-c004-4642-a506-93e894bc5712 648b50f7-18ce-4188-83d1-e095f4b0b98b 6 159262436 159262436 T 0 DEL OSTCP1 ENST00000522287 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors OSTCP1 HGNC ENSG00000243775 10 0 0.00 9 2 18.18 OVGP1 0 genome.wustl.edu 37 1 111957574 111957574 + Missense_Mutation SNP C C A TCGA-IG-A3YC-01A-11D-A247-09 TCGA-IG-A3YC-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c529fe8f-c004-4642-a506-93e894bc5712 648b50f7-18ce-4188-83d1-e095f4b0b98b 1 111957574 111957574 C A SNP OVGP1 ENST00000369732 human ensembl 74_37 -1 known missense c.1549 p.V517L 0.010 NULL pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II - no_errors OVGP1 HGNC ENSG00000085465 tier1 - - 97 0 0.00 41 7 14.29 PC 0 genome.wustl.edu 37 11 66616073 66616073 + RNA SNP A A T TCGA-IG-A3YC-01A-11D-A247-09 TCGA-IG-A3YC-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c529fe8f-c004-4642-a506-93e894bc5712 648b50f7-18ce-4188-83d1-e095f4b0b98b 11 66616073 66616073 A T SNP PC ENST00000528224 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors PC HGNC ENSG00000173599 tier1 - - 91 0 0.00 59 9 13.24 PCBP2 0 genome.wustl.edu 37 12 53848620 53848620 + Silent SNP C C A TCGA-IG-A3YC-01A-11D-A247-09 TCGA-IG-A3YC-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c529fe8f-c004-4642-a506-93e894bc5712 648b50f7-18ce-4188-83d1-e095f4b0b98b 12 53848620 53848620 C A SNP PCBP2 ENST00000603815 human ensembl 74_37 +1 known silent c.36 p.V12 1.000 smart_KH_dom pfam_KH_dom_type_1,pfam_KH_dom_type_2,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors PCBP2 HGNC ENSG00000197111 tier1 - - 115 0 0.00 39 4 9.30 PDXP 0 genome.wustl.edu 37 22 38055258 38055258 + Missense_Mutation SNP G G T TCGA-IG-A3YC-01A-11D-A247-09 TCGA-IG-A3YC-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c529fe8f-c004-4642-a506-93e894bc5712 648b50f7-18ce-4188-83d1-e095f4b0b98b 22 38055258 38055258 G T SNP PDXP ENST00000215904 human ensembl 74_37 +1 known missense c.469 p.A157S 0.973 pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_PGP_euk,tigrfam_HAD-SF_hydro_IIA pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_PGP_euk,tigrfam_HAD-SF_hydro_IIA - no_errors PDXP HGNC ENSG00000241360 10 0 0.00 4 3 42.86 PGAP3 0 genome.wustl.edu 37 17 37842243 37842243 + Missense_Mutation SNP C C T TCGA-IG-A3YC-01A-11D-A247-09 TCGA-IG-A3YC-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c529fe8f-c004-4642-a506-93e894bc5712 648b50f7-18ce-4188-83d1-e095f4b0b98b 17 37842243 37842243 C T SNP PGAP3 ENST00000300658 human ensembl 74_37 -1 known missense c.211 p.E71K 1.000 pfam_Per1 pfam_Per1 - no_errors PGAP3 HGNC ENSG00000161395 tier1 - - 57 0 0.00 32 6 15.79 PINK1 0 genome.wustl.edu 37 1 20964578 20964578 + Missense_Mutation SNP G G T TCGA-IG-A3YC-01A-11D-A247-09 TCGA-IG-A3YC-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c529fe8f-c004-4642-a506-93e894bc5712 648b50f7-18ce-4188-83d1-e095f4b0b98b 1 20964578 20964578 G T SNP PINK1 ENST00000321556 human ensembl 74_37 +1 known missense c.631 p.A211S 0.068 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 PINK1 HGNC ENSG00000158828 63 0 0.00 34 4 10.53 PPEF2 0 genome.wustl.edu 37 4 76794369 76794369 + Missense_Mutation SNP G G T TCGA-IG-A3YC-01A-11D-A247-09 TCGA-IG-A3YC-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c529fe8f-c004-4642-a506-93e894bc5712 648b50f7-18ce-4188-83d1-e095f4b0b98b 4 76794369 76794369 G T SNP PPEF2 ENST00000286719 human ensembl 74_37 -1 known missense c.1417 p.Q473K 0.183 pirsf_Ser/Thr-Pase_EF-hand_contain,pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase pirsf_Ser/Thr-Pase_EF-hand_contain,pfam_PEstase_dom,pfam_PPP_dom,smart_Ser/Thr-sp_prot-phosphatase,smart_EF_hand_dom,prints_Ser/Thr-sp_prot-phosphatase,pfscan_EF_hand_dom - no_errors PPEF2 HGNC ENSG00000156194 tier1 - - 119 0 0.00 54 4 6.90 PPP3R2 0 genome.wustl.edu 37 9 104356907 104356907 + Silent SNP G G A TCGA-IG-A3YC-01A-11D-A247-09 TCGA-IG-A3YC-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c529fe8f-c004-4642-a506-93e894bc5712 648b50f7-18ce-4188-83d1-e095f4b0b98b 9 104356907 104356907 G A SNP PPP3R2 ENST00000374806 human ensembl 74_37 -1 known silent c.306 p.Y102 1.000 smart_EF_hand_dom,pfscan_EF_hand_dom pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin - no_errors PPP3R2 HGNC ENSG00000188386 tier1 - - 109 0 0.00 41 4 8.89 PROX1 0 genome.wustl.edu 37 1 214171007 214171007 + Missense_Mutation SNP C C T TCGA-IG-A3YC-01A-11D-A247-09 TCGA-IG-A3YC-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c529fe8f-c004-4642-a506-93e894bc5712 648b50f7-18ce-4188-83d1-e095f4b0b98b 1 214171007 214171007 C T SNP PROX1 ENST00000261454 human ensembl 74_37 +1 known missense c.1129 p.R377C 1.000 pfam_Homeo_prospero_dom pfam_Homeo_prospero_dom,superfamily_Homeodomain-like - no_errors PROX1 HGNC ENSG00000117707 tier1 - - 37 0 0.00 23 6 20.69 PTGER4 0 genome.wustl.edu 37 5 40681944 40681944 + Missense_Mutation SNP C C G TCGA-IG-A3YC-01A-11D-A247-09 TCGA-IG-A3YC-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c529fe8f-c004-4642-a506-93e894bc5712 648b50f7-18ce-4188-83d1-e095f4b0b98b 5 40681944 40681944 C G SNP PTGER4 ENST00000302472 human ensembl 74_37 +1 known missense c.849 p.I283M 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Prostanoid_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Prost_EP4_rcpt,prints_Prostanoid_rcpt,prints_GPCR_Rhodpsn,prints_Prostglndn_DP_rcpt - no_errors PTGER4 HGNC ENSG00000171522 tier1 - - 43 0 0.00 15 10 40.00 PTPN14 0 genome.wustl.edu 37 1 214557130 214557131 + Frame_Shift_Ins INS - - A TCGA-IG-A3YC-01A-11D-A247-09 TCGA-IG-A3YC-10A-01D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c529fe8f-c004-4642-a506-93e894bc5712 648b50f7-18ce-4188-83d1-e095f4b0b98b 1 214557130 214557131 - A INS PTPN14 ENST00000366956 human ensembl 74_37 -1 known frame_shift_ins c.2068_2067 p.P689fs 0.970:0.517 pirsf_Tyr_Pase_non-rcpt_typ-14/21 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_Dual-sp_phosphatase_cat-dom,superfamily_FERM_central,smart_Band_41_domain,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam - no_errors PTPN14 HGNC ENSG00000152104 tier1 63 0 0.00 16 9 36.00 PXN-AS1 0 genome.wustl.edu 37 12 120639171 120639171 + RNA DEL A A - TCGA-IG-A3YC-01A-11D-A247-09 TCGA-IG-A3YC-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c529fe8f-c004-4642-a506-93e894bc5712 648b50f7-18ce-4188-83d1-e095f4b0b98b 12 120639171 120639171 A 0 DEL PXN-AS1 ENST00000538804 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors PXN-AS1 HGNC ENSG00000255857 11 0 0.00 5 2 28.57 RABGGTB 0 genome.wustl.edu 37 1 76260328 76260328 + Missense_Mutation SNP T T G TCGA-IG-A3YC-01A-11D-A247-09 TCGA-IG-A3YC-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c529fe8f-c004-4642-a506-93e894bc5712 648b50f7-18ce-4188-83d1-e095f4b0b98b 1 76260328 76260328 T G SNP RABGGTB ENST00000319942 human ensembl 74_37 +1 known missense c.989 p.V330G 1.000 NULL pfam_Prenyltrans,superfamily_Terpenoid_cyclase/PrenylTrfase - no_errors RABGGTB HGNC ENSG00000137955 tier1 - - 78 0 0.00 37 4 9.52 RHOBTB3 0 genome.wustl.edu 37 5 95103749 95103749 + Splice_Site SNP G G T TCGA-IG-A3YC-01A-11D-A247-09 TCGA-IG-A3YC-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c529fe8f-c004-4642-a506-93e894bc5712 648b50f7-18ce-4188-83d1-e095f4b0b98b 5 95103749 95103749 G T SNP RHOBTB3 ENST00000379982 human ensembl 74_37 +1 known splice_site c.1162-1 e8-1 1.000 - - - no_errors RHOBTB3 HGNC ENSG00000164292 101 0 0.00 47 3 6.00 RNF216P1 0 genome.wustl.edu 37 7 5016059 5016059 + RNA SNP G G A TCGA-IG-A3YC-01A-11D-A247-09 TCGA-IG-A3YC-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c529fe8f-c004-4642-a506-93e894bc5712 648b50f7-18ce-4188-83d1-e095f4b0b98b 7 5016059 5016059 G A SNP RNF216P1 ENST00000403969 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RNF216P1 HGNC ENSG00000196204 tier1 - - 155 0 0.00 66 25 27.47 RPUSD1 0 genome.wustl.edu 37 16 836115 836115 + Silent SNP G G A TCGA-IG-A3YC-01A-11D-A247-09 TCGA-IG-A3YC-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c529fe8f-c004-4642-a506-93e894bc5712 648b50f7-18ce-4188-83d1-e095f4b0b98b 16 836115 836115 G A SNP RPUSD1 ENST00000007264 human ensembl 74_37 -1 known silent c.774 p.P258 0.004 NULL pfam_PsdUridine_synth_RsuA/RluD,superfamily_PsdUridine_synth_cat_dom - no_errors RPUSD1 HGNC ENSG00000007376 tier1 rs144842334 - 36 0 0.00 15 5 25.00 SAMD9L 0 genome.wustl.edu 37 7 92765282 92765282 + Missense_Mutation SNP C C G TCGA-IG-A3YC-01A-11D-A247-09 TCGA-IG-A3YC-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c529fe8f-c004-4642-a506-93e894bc5712 648b50f7-18ce-4188-83d1-e095f4b0b98b 7 92765282 92765282 C G SNP SAMD9L ENST00000318238 human ensembl 74_37 -1 known missense c.3 p.M1I 0.189 NULL superfamily_SAM/pointed,superfamily_P-loop_NTPase,pfscan_SAM - no_errors SAMD9L HGNC ENSG00000177409 tier1 - - 56 0 0.00 61 23 27.38 SCN1B 0 genome.wustl.edu 37 19 35524873 35524873 + Silent SNP C C T TCGA-IG-A3YC-01A-11D-A247-09 TCGA-IG-A3YC-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c529fe8f-c004-4642-a506-93e894bc5712 648b50f7-18ce-4188-83d1-e095f4b0b98b 19 35524873 35524873 C T SNP SCN1B ENST00000415950 human ensembl 74_37 +1 novel silent c.678 p.S226 0.001 NULL pfam_Immunoglobulin,pfam_Ig_V-set - no_errors SCN1B HGNC ENSG00000105711 tier1 - - 106 0 0.00 29 14 32.56 SCYL1 0 genome.wustl.edu 37 11 65304155 65304155 + Silent SNP C C T TCGA-IG-A3YC-01A-11D-A247-09 TCGA-IG-A3YC-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c529fe8f-c004-4642-a506-93e894bc5712 648b50f7-18ce-4188-83d1-e095f4b0b98b 11 65304155 65304155 C T SNP SCYL1 ENST00000270176 human ensembl 74_37 +1 known silent c.1750 p.L584 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,pfscan_Prot_kinase_dom - no_errors SCYL1 HGNC ENSG00000142186 tier1 - - 64 0 0.00 26 4 13.33 SEL1L2 0 genome.wustl.edu 37 20 13850835 13850835 + Silent SNP G G A TCGA-IG-A3YC-01A-11D-A247-09 TCGA-IG-A3YC-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c529fe8f-c004-4642-a506-93e894bc5712 648b50f7-18ce-4188-83d1-e095f4b0b98b 20 13850835 13850835 G A SNP SEL1L2 ENST00000284951 human ensembl 74_37 -1 known silent c.1119 p.G373 1.000 smart_Sel1-like pfam_Sel1-like,smart_Sel1-like - no_errors SEL1L2 HGNC ENSG00000101251 tier1 - - 75 0 0.00 38 16 29.63 SEL1L2 0 genome.wustl.edu 37 20 13850839 13850840 + Frame_Shift_Ins INS - - T TCGA-IG-A3YC-01A-11D-A247-09 TCGA-IG-A3YC-10A-01D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c529fe8f-c004-4642-a506-93e894bc5712 648b50f7-18ce-4188-83d1-e095f4b0b98b 20 13850839 13850840 - T INS SEL1L2 ENST00000284951 human ensembl 74_37 -1 known frame_shift_ins c.1115_1114 p.I372fs 1.000:1.000 smart_Sel1-like pfam_Sel1-like,smart_Sel1-like - no_errors SEL1L2 HGNC ENSG00000101251 tier1 71 0 0.00 38 15 28.30 SEMA3A 0 genome.wustl.edu 37 7 83592579 83592579 + Nonsense_Mutation SNP G G T TCGA-IG-A3YC-01A-11D-A247-09 TCGA-IG-A3YC-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c529fe8f-c004-4642-a506-93e894bc5712 648b50f7-18ce-4188-83d1-e095f4b0b98b 7 83592579 83592579 G T SNP SEMA3A ENST00000265362 human ensembl 74_37 -1 known nonsense c.1802 p.S601* 1.000 smart_Ig_sub,pfscan_Ig-like_dom pfam_Semap_dom,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA3A HGNC ENSG00000075213 tier1 - - 77 0 0.00 70 4 5.41 SEMA3C 0 genome.wustl.edu 37 7 80432008 80432008 + Missense_Mutation SNP C C T TCGA-IG-A3YC-01A-11D-A247-09 TCGA-IG-A3YC-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c529fe8f-c004-4642-a506-93e894bc5712 648b50f7-18ce-4188-83d1-e095f4b0b98b 7 80432008 80432008 C T SNP SEMA3C ENST00000544525 human ensembl 74_37 -1 known missense c.943 p.G315S 1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Ig_I-set,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA3C HGNC ENSG00000075223 48 0 0.00 46 4 8.00 SLC30A3 0 genome.wustl.edu 37 2 27480186 27480186 + Frame_Shift_Del DEL G G - TCGA-IG-A3YC-01A-11D-A247-09 TCGA-IG-A3YC-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c529fe8f-c004-4642-a506-93e894bc5712 648b50f7-18ce-4188-83d1-e095f4b0b98b 2 27480186 27480186 G - DEL SLC30A3 ENST00000233535 human ensembl 74_37 -1 known frame_shift_del c.613 p.H205fs 0.996 pfam_Cation_efflux,tigrfam_Cation_efflux pfam_Cation_efflux,tigrfam_Cation_efflux - no_errors SLC30A3 HGNC ENSG00000115194 tier1 112 0 0.00 38 7 15.56 SLC30A3 0 genome.wustl.edu 37 2 27480193 27480193 + Silent SNP C C T TCGA-IG-A3YC-01A-11D-A247-09 TCGA-IG-A3YC-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c529fe8f-c004-4642-a506-93e894bc5712 648b50f7-18ce-4188-83d1-e095f4b0b98b 2 27480193 27480193 C T SNP SLC30A3 ENST00000233535 human ensembl 74_37 -1 known silent c.606 p.G202 0.997 pfam_Cation_efflux,tigrfam_Cation_efflux pfam_Cation_efflux,tigrfam_Cation_efflux - no_errors SLC30A3 HGNC ENSG00000115194 tier1 - - 112 0 0.00 39 7 15.22 SLC46A3 0 genome.wustl.edu 37 13 29278264 29278265 + RNA INS - - AA TCGA-IG-A3YC-01A-11D-A247-09 TCGA-IG-A3YC-10A-01D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c529fe8f-c004-4642-a506-93e894bc5712 648b50f7-18ce-4188-83d1-e095f4b0b98b 13 29278264 29278265 - AA INS SLC46A3 ENST00000475385 human ensembl 74_37 -1 known rna NULL NULL 0.001:0.000 - - - no_errors SLC46A3 HGNC ENSG00000139508 tier1 30 0 0.00 13 2 13.33 SLC6A3 0 genome.wustl.edu 37 5 1443252 1443252 + Missense_Mutation SNP G G A TCGA-IG-A3YC-01A-11D-A247-09 TCGA-IG-A3YC-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c529fe8f-c004-4642-a506-93e894bc5712 648b50f7-18ce-4188-83d1-e095f4b0b98b 5 1443252 1443252 G A SNP SLC6A3 ENST00000270349 human ensembl 74_37 -1 known missense c.61 p.P21S 0.786 prints_Na/ntran_symport_dopamine pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_dopamine - no_errors SLC6A3 HGNC ENSG00000142319 tier1 - - 68 0 0.00 42 8 16.00 SNX14 0 genome.wustl.edu 37 6 86277260 86277260 + Silent SNP C C T TCGA-IG-A3YC-01A-11D-A247-09 TCGA-IG-A3YC-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c529fe8f-c004-4642-a506-93e894bc5712 648b50f7-18ce-4188-83d1-e095f4b0b98b 6 86277260 86277260 C T SNP SNX14 ENST00000314673 human ensembl 74_37 -1 known silent c.453 p.P151 0.864 pfam_Phox_assoc,smart_PX_assoc_Snx13,pfscan_Phox_assoc pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_Phox,pfam_RGS_dom,superfamily_Phox,superfamily_Regulat_G_prot_signal_superfam,smart_PX_assoc_Snx13,smart_Regulat_G_prot_signal_superfam,smart_Phox,pfscan_Phox,pfscan_Phox_assoc,pfscan_Regulat_G_prot_signal_superfam - no_errors SNX14 HGNC ENSG00000135317 tier1 - - 18 0 0.00 8 3 27.27 SOX5 0 genome.wustl.edu 37 12 23999004 23999004 + Missense_Mutation SNP G G A TCGA-IG-A3YC-01A-11D-A247-09 TCGA-IG-A3YC-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c529fe8f-c004-4642-a506-93e894bc5712 648b50f7-18ce-4188-83d1-e095f4b0b98b 12 23999004 23999004 G A SNP SOX5 ENST00000451604 human ensembl 74_37 -1 known missense c.394 p.P132S 1.000 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX5 HGNC ENSG00000134532 tier1 - - 56 0 0.00 29 8 21.62 SPG11 0 genome.wustl.edu 37 15 44914420 44914420 + Silent SNP G G T TCGA-IG-A3YC-01A-11D-A247-09 TCGA-IG-A3YC-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c529fe8f-c004-4642-a506-93e894bc5712 648b50f7-18ce-4188-83d1-e095f4b0b98b 15 44914420 44914420 G T SNP SPG11 ENST00000261866 human ensembl 74_37 -1 known silent c.2442 p.P814 1.000 NULL NULL - no_errors SPG11 HGNC ENSG00000104133 tier1 - - 90 0 0.00 30 3 9.09 SREBF1 0 genome.wustl.edu 37 17 17718043 17718043 + Missense_Mutation SNP T T A TCGA-IG-A3YC-01A-11D-A247-09 TCGA-IG-A3YC-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c529fe8f-c004-4642-a506-93e894bc5712 648b50f7-18ce-4188-83d1-e095f4b0b98b 17 17718043 17718043 T A SNP SREBF1 ENST00000355815 human ensembl 74_37 -1 known missense c.2711 p.K904M 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors SREBF1 HGNC ENSG00000072310 50 0 0.00 27 4 12.90 TAOK2 0 genome.wustl.edu 37 16 29996571 29996571 + Missense_Mutation SNP C C T TCGA-IG-A3YC-01A-11D-A247-09 TCGA-IG-A3YC-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c529fe8f-c004-4642-a506-93e894bc5712 648b50f7-18ce-4188-83d1-e095f4b0b98b 16 29996571 29996571 C T SNP TAOK2 ENST00000308893 human ensembl 74_37 +1 known missense c.1460 p.A487V 0.996 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TAOK2 HGNC ENSG00000149930 89 0 0.00 34 3 8.11 TFPI2 0 genome.wustl.edu 37 7 93519957 93519957 + Missense_Mutation SNP G G T TCGA-IG-A3YC-01A-11D-A247-09 TCGA-IG-A3YC-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c529fe8f-c004-4642-a506-93e894bc5712 648b50f7-18ce-4188-83d1-e095f4b0b98b 7 93519957 93519957 G T SNP TFPI2 ENST00000222543 human ensembl 74_37 -1 known missense c.34 p.L12M 0.113 pirsf_Prot_inhib_I2_TFPI pirsf_Prot_inhib_I2_TFPI,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m - no_errors TFPI2 HGNC ENSG00000105825 tier1 - - 18 0 0.00 13 11 45.83 TP53 0 genome.wustl.edu 37 17 7578493 7578493 + Nonsense_Mutation SNP C C T TCGA-IG-A3YC-01A-11D-A247-09 TCGA-IG-A3YC-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c529fe8f-c004-4642-a506-93e894bc5712 648b50f7-18ce-4188-83d1-e095f4b0b98b 17 7578493 7578493 C T SNP TP53 ENST00000269305 human ensembl 74_37 -1 known nonsense c.437 p.W146* 0.248 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd 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 - - 57 0 0.00 18 11 37.93 TRIM27 0 genome.wustl.edu 37 6 28875015 28875015 + Missense_Mutation SNP G G A TCGA-IG-A3YC-01A-11D-A247-09 TCGA-IG-A3YC-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c529fe8f-c004-4642-a506-93e894bc5712 648b50f7-18ce-4188-83d1-e095f4b0b98b 6 28875015 28875015 G A SNP TRIM27 ENST00000377199 human ensembl 74_37 -1 known missense c.944 p.S315L 1.000 superfamily_ConA-like_lec_gl_sf,smart_PRY,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,prints_Znf_B-box_chordata - no_errors TRIM27 HGNC ENSG00000204713 tier1 - - 92 0 0.00 36 7 16.28 TROVE2 0 genome.wustl.edu 37 1 193054347 193054347 + RNA DEL A A - TCGA-IG-A3YC-01A-11D-A247-09 TCGA-IG-A3YC-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c529fe8f-c004-4642-a506-93e894bc5712 648b50f7-18ce-4188-83d1-e095f4b0b98b 1 193054347 193054347 A - DEL TROVE2 ENST00000460715 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors TROVE2 HGNC ENSG00000116747 tier1 39 0 0.00 26 2 7.14 UHMK1 0 genome.wustl.edu 37 1 162492706 162492706 + RNA SNP G G C TCGA-IG-A3YC-01A-11D-A247-09 TCGA-IG-A3YC-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c529fe8f-c004-4642-a506-93e894bc5712 648b50f7-18ce-4188-83d1-e095f4b0b98b 1 162492706 162492706 G C SNP UHMK1 ENST00000282169 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors UHMK1 HGNC ENSG00000152332 tier1 - - 173 0 0.00 77 8 9.41 VAT1 0 genome.wustl.edu 37 17 41168411 41168411 + Silent SNP C C G TCGA-IG-A3YC-01A-11D-A247-09 TCGA-IG-A3YC-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c529fe8f-c004-4642-a506-93e894bc5712 648b50f7-18ce-4188-83d1-e095f4b0b98b 17 41168411 41168411 C G SNP VAT1 ENST00000355653 human ensembl 74_37 -1 known silent c.1011 p.L337 0.997 smart_PKS_ER pfam_ADH_C,pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER - no_errors VAT1 HGNC ENSG00000108828 tier1 - - 44 0 0.00 17 4 19.05 XPO4 0 genome.wustl.edu 37 13 21374323 21374323 + Missense_Mutation SNP G G T TCGA-IG-A3YC-01A-11D-A247-09 TCGA-IG-A3YC-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c529fe8f-c004-4642-a506-93e894bc5712 648b50f7-18ce-4188-83d1-e095f4b0b98b 13 21374323 21374323 G T SNP XPO4 ENST00000255305 human ensembl 74_37 -1 known missense c.2119 p.L707I 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors XPO4 HGNC ENSG00000132953 tier1 - - 86 0 0.00 25 3 10.71 YTHDC1 0 genome.wustl.edu 37 4 69189889 69189889 + Missense_Mutation SNP G G T TCGA-IG-A3YC-01A-11D-A247-09 TCGA-IG-A3YC-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c529fe8f-c004-4642-a506-93e894bc5712 648b50f7-18ce-4188-83d1-e095f4b0b98b 4 69189889 69189889 G T SNP YTHDC1 ENST00000344157 human ensembl 74_37 -1 known missense c.1402 p.H468N 1.000 pfam_YTH_domain,pfscan_YTH_domain pfam_YTH_domain,pfscan_YTH_domain - no_errors YTHDC1 HGNC ENSG00000083896 tier1 - - 124 0 0.00 66 4 5.71 ZFPM2 0 genome.wustl.edu 37 8 106431482 106431482 + Missense_Mutation SNP G G C TCGA-IG-A3YC-01A-11D-A247-09 TCGA-IG-A3YC-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c529fe8f-c004-4642-a506-93e894bc5712 648b50f7-18ce-4188-83d1-e095f4b0b98b 8 106431482 106431482 G C SNP ZFPM2 ENST00000407775 human ensembl 74_37 +1 known missense c.151 p.G51R 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFPM2 HGNC ENSG00000169946 tier1 - - 50 0 0.00 54 4 6.90 ZHX3 0 genome.wustl.edu 37 20 39831306 39831306 + Missense_Mutation SNP G G T TCGA-IG-A3YC-01A-11D-A247-09 TCGA-IG-A3YC-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c529fe8f-c004-4642-a506-93e894bc5712 648b50f7-18ce-4188-83d1-e095f4b0b98b 20 39831306 39831306 G T SNP ZHX3 ENST00000309060 human ensembl 74_37 -1 known missense c.2251 p.P751T 0.001 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors ZHX3 HGNC ENSG00000174306 tier1 - - 58 0 0.00 30 4 11.76 ZIM2 0 genome.wustl.edu 37 19 57290775 57290775 + Missense_Mutation SNP T T G TCGA-IG-A3YC-01A-11D-A247-09 TCGA-IG-A3YC-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c529fe8f-c004-4642-a506-93e894bc5712 648b50f7-18ce-4188-83d1-e095f4b0b98b 19 57290775 57290775 T G SNP ZIM2 ENST00000221722 human ensembl 74_37 -1 known missense c.712 p.T238P 0.004 pfscan_Krueppel-associated_box 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 ZIM2 HGNC ENSG00000269699 tier1 - - 89 0 0.00 59 9 13.24 ZNF488 0 genome.wustl.edu 37 10 48370969 48370969 + Missense_Mutation SNP A A G TCGA-IG-A3YC-01A-11D-A247-09 TCGA-IG-A3YC-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c529fe8f-c004-4642-a506-93e894bc5712 648b50f7-18ce-4188-83d1-e095f4b0b98b 10 48370969 48370969 A G SNP ZNF488 ENST00000395702 human ensembl 74_37 +1 known missense c.437 p.K146R 0.003 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF488 HGNC ENSG00000165388 tier1 rs140082282 - 72 0 0.00 18 9 33.33 ZNF613 0 genome.wustl.edu 37 19 52447931 52447931 + Silent SNP T T C TCGA-IG-A3YC-01A-11D-A247-09 TCGA-IG-A3YC-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c529fe8f-c004-4642-a506-93e894bc5712 648b50f7-18ce-4188-83d1-e095f4b0b98b 19 52447931 52447931 T C SNP ZNF613 ENST00000293471 human ensembl 74_37 +1 known silent c.795 p.C265 0.964 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 ZNF613 HGNC ENSG00000176024 tier1 - - 73 0 0.00 33 4 10.81 ZNF671 0 genome.wustl.edu 37 19 58232292 58232292 + Missense_Mutation SNP G G T TCGA-IG-A3YC-01A-11D-A247-09 TCGA-IG-A3YC-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c529fe8f-c004-4642-a506-93e894bc5712 648b50f7-18ce-4188-83d1-e095f4b0b98b 19 58232292 58232292 G T SNP ZNF671 ENST00000317398 human ensembl 74_37 -1 known missense c.1162 p.Q388K 0.960 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 ZNF671 HGNC ENSG00000083814 tier1 - - 72 0 0.00 38 7 15.56