Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_Position End_Position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_File Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID chromosome_name_WU start_WU stop_WU reference_WU variant_WU type_WU gene_name_WU transcript_name_WU transcript_species_WU transcript_source_WU transcript_version_WU strand_WU transcript_status_WU trv_type_WU c_position_WU amino_acid_change_WU ucsc_cons_WU domain_WU all_domains_WU deletion_substructures_WU transcript_error_WU default_gene_name_WU gene_name_source_WU ensembl_gene_id normal_ref_reads normal_var_reads normal_vaf tumor_ref_reads tumors_var_reads tumor_vaf EVS_EA EVS_AA EVS_All ABHD13 0 genome.wustl.edu 37 13 108882099 108882099 + Missense_Mutation SNP C C G TCGA-E9-A1RF-01A-11D-A159-09 TCGA-E9-A1RF-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43983619-d863-4816-a334-445f6ca36541 0c36d388-c63d-4ab1-8303-6d5005708525 13 108882099 108882099 C G SNP ABHD13 ENST00000375898 human ensembl 69_37n +1 known missense c.533 p.T178S 1.000 pfam_AB_hydrolase_1,pfam_AXE1 pfam_AB_hydrolase_1,pfam_AXE1 - no_errors ABHD13 HGNC ENSG00000139826 110 0 0.00 33 6 15.38 - - - ADAMTS3 0 genome.wustl.edu 37 4 73414439 73414439 + Missense_Mutation SNP A A T TCGA-E9-A1RF-01A-11D-A159-09 TCGA-E9-A1RF-10A-01D-A159-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43983619-d863-4816-a334-445f6ca36541 0c36d388-c63d-4ab1-8303-6d5005708525 4 73414439 73414439 A T SNP ADAMTS3 ENST00000286657 human ensembl 69_37n -1 known missense c.260 p.F87Y 1.000 pfam_Peptidase_M12B_N pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS3 HGNC ENSG00000156140 159 0 0.00 40 11 21.57 - - - ADCY8 0 genome.wustl.edu 37 8 131916201 131916201 + Missense_Mutation SNP G G C TCGA-E9-A1RF-01A-11D-A159-09 TCGA-E9-A1RF-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43983619-d863-4816-a334-445f6ca36541 0c36d388-c63d-4ab1-8303-6d5005708525 8 131916201 131916201 G C SNP ADCY8 ENST00000286355 human ensembl 69_37n -1 known missense c.1728 p.F576L 1.000 pfam_A/G_cyclase,superfamily_A/G_cyclase pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY8 HGNC ENSG00000155897 88 0 0.00 25 5 16.67 - - - AHCY 0 genome.wustl.edu 37 20 32873245 32873245 + Splice_Site SNP C C A TCGA-E9-A1RF-01A-11D-A159-09 TCGA-E9-A1RF-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43983619-d863-4816-a334-445f6ca36541 0c36d388-c63d-4ab1-8303-6d5005708525 20 32873245 32873245 C A SNP AHCY ENST00000217426 human ensembl 69_37n -1 known splice_site c.1167+1 e9+1 1.000 - - - no_errors AHCY HGNC ENSG00000101444 69 0 0.00 31 9 22.50 - - - AHSA1 0 genome.wustl.edu 37 14 77929072 77929072 + Missense_Mutation SNP A A G TCGA-E9-A1RF-01A-11D-A159-09 TCGA-E9-A1RF-10A-01D-A159-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43983619-d863-4816-a334-445f6ca36541 0c36d388-c63d-4ab1-8303-6d5005708525 14 77929072 77929072 A G SNP AHSA1 ENST00000216479 human ensembl 69_37n +1 known missense c.442 p.M148V 0.465 pfam_AHSA1_N,superfamily_AHSA1_N pfam_AHSA1_N,pfam_Activator_of_Hsp90_ATPase,superfamily_AHSA1_N - no_errors AHSA1 HGNC ENSG00000100591 93 0 0.00 27 11 28.95 - - - ANAPC7 0 genome.wustl.edu 37 12 110815309 110815309 + Missense_Mutation SNP C C T TCGA-E9-A1RF-01A-11D-A159-09 TCGA-E9-A1RF-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43983619-d863-4816-a334-445f6ca36541 0c36d388-c63d-4ab1-8303-6d5005708525 12 110815309 110815309 C T SNP ANAPC7 ENST00000455511 human ensembl 69_37n -1 known missense c.1348 p.V450I 1.000 pfscan_TPR-contain_dom pfam_TPR_2,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors ANAPC7 HGNC ENSG00000196510 317 0 0.00 84 41 32.80 - - - APOPT1 0 genome.wustl.edu 37 14 104040485 104040485 + Silent SNP C C T TCGA-E9-A1RF-01A-11D-A159-09 TCGA-E9-A1RF-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43983619-d863-4816-a334-445f6ca36541 0c36d388-c63d-4ab1-8303-6d5005708525 14 104040485 104040485 C T SNP APOPT1 ENST00000409074 human ensembl 69_37n +1 known silent c.402 p.G134 0.910 pfam_UPF0671 pfam_UPF0671 - no_errors APOPT1 HGNC ENSG00000256053 257 0 0.00 140 25 15.06 - - - ASB11 0 genome.wustl.edu 37 X 15306047 15306047 + Missense_Mutation SNP G G A TCGA-E9-A1RF-01A-11D-A159-09 TCGA-E9-A1RF-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43983619-d863-4816-a334-445f6ca36541 0c36d388-c63d-4ab1-8303-6d5005708525 X 15306047 15306047 G A SNP ASB11 ENST00000480796 human ensembl 69_37n -1 known missense c.803 p.A268V 0.985 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C - no_errors ASB11 HGNC ENSG00000165192 144 0 0.00 44 11 20.00 - - - ATAD2B 0 genome.wustl.edu 37 2 24086409 24086409 + Missense_Mutation SNP C C A TCGA-E9-A1RF-01A-11D-A159-09 TCGA-E9-A1RF-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43983619-d863-4816-a334-445f6ca36541 0c36d388-c63d-4ab1-8303-6d5005708525 2 24086409 24086409 C A SNP ATAD2B ENST00000238789 human ensembl 69_37n -1 known missense c.1321 p.G441C 1.000 pfam_ATPase_AAA_core,pfam_IstB_ATP-bd,smart_AAA+_ATPase pfam_ATPase_AAA_core,pfam_Bromodomain,pfam_IstB_ATP-bd,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors ATAD2B HGNC ENSG00000119778 68 0 0.00 25 14 35.90 - - - ATP13A3 0 genome.wustl.edu 37 3 194151723 194151723 + Missense_Mutation SNP C C T TCGA-E9-A1RF-01A-11D-A159-09 TCGA-E9-A1RF-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43983619-d863-4816-a334-445f6ca36541 0c36d388-c63d-4ab1-8303-6d5005708525 3 194151723 194151723 C T SNP ATP13A3 ENST00000256031 human ensembl 69_37n -1 known missense c.2573 p.R858H 1.000 superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_unknown-pump-sp,tigrfam_ATPase_P-typ_ion-transptr pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_unknown-pump-sp,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP13A3 HGNC ENSG00000133657 86 0 0.00 21 5 19.23 - - - ATP6V1A 0 genome.wustl.edu 37 3 113524322 113524322 + Missense_Mutation SNP C C T TCGA-E9-A1RF-01A-11D-A159-09 TCGA-E9-A1RF-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43983619-d863-4816-a334-445f6ca36541 0c36d388-c63d-4ab1-8303-6d5005708525 3 113524322 113524322 C T SNP ATP6V1A ENST00000273398 human ensembl 69_37n +1 known missense c.1711 p.R571C 1.000 pfam_ATPase_F1/V1/A1-cplx_a/bsu_C,superfamily_ATPase_F1/V1/A1-cplx_a/bsu_C,tigrfam_ATPase_V1-cplx_asu pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,pfam_ATPase_F1/V1/A1-cplx_a/bsu_C,pfam_ATPase_F1/V1/A1-cplx_a/bsu_N,superfamily_ATPase_F1/V1/A1-cplx_a/bsu_C,superfamily_ATPase_F1/A1-cplx_a/bsu_N,tigrfam_ATPase_V1-cplx_asu - no_errors ATP6V1A HGNC ENSG00000114573 156 1 0.64 87 14 13.86 - - - BCAR1 0 genome.wustl.edu 37 16 75267782 75267782 + Missense_Mutation SNP T T C TCGA-E9-A1RF-01A-11D-A159-09 TCGA-E9-A1RF-10A-01D-A159-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43983619-d863-4816-a334-445f6ca36541 0c36d388-c63d-4ab1-8303-6d5005708525 16 75267782 75267782 T C SNP BCAR1 ENST00000418647 human ensembl 69_37n -1 known missense c.2200 p.I734V 1.000 pfam_CAS_DUF3513 pfam_CAS_DUF3513,pfam_Serine_rich,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors BCAR1 HGNC ENSG00000050820 48 0 0.00 24 10 29.41 - - - BIVM 0 genome.wustl.edu 37 13 103459852 103459852 + Missense_Mutation SNP G G T TCGA-E9-A1RF-01A-11D-A159-09 TCGA-E9-A1RF-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43983619-d863-4816-a334-445f6ca36541 0c36d388-c63d-4ab1-8303-6d5005708525 13 103459852 103459852 G T SNP BIVM ENST00000257336 human ensembl 69_37n +1 known missense c.235 p.A79S 1.000 NULL NULL - no_errors BIVM HGNC ENSG00000134897 116 0 0.00 51 11 17.74 - - - C14orf39 0 genome.wustl.edu 37 14 60908795 60908795 + Missense_Mutation SNP T T G TCGA-E9-A1RF-01A-11D-A159-09 TCGA-E9-A1RF-10A-01D-A159-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43983619-d863-4816-a334-445f6ca36541 0c36d388-c63d-4ab1-8303-6d5005708525 14 60908795 60908795 T G SNP C14orf39 ENST00000321731 human ensembl 69_37n -1 known missense c.1558 p.I520L 1.000 NULL NULL - no_errors C14orf39 HGNC ENSG00000179008 142 0 0.00 35 9 20.45 - - - C16orf45 0 genome.wustl.edu 37 16 15677024 15677024 + Missense_Mutation SNP A A C TCGA-E9-A1RF-01A-11D-A159-09 TCGA-E9-A1RF-10A-01D-A159-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43983619-d863-4816-a334-445f6ca36541 0c36d388-c63d-4ab1-8303-6d5005708525 16 15677024 15677024 A C SNP C16orf45 ENST00000300006 human ensembl 69_37n +1 known missense c.431 p.E144A 1.000 pfam_DUF3585 pfam_DUF3585 - no_errors C16orf45 HGNC ENSG00000166780 97 0 0.00 36 15 29.41 - - - CDH7 0 genome.wustl.edu 37 18 63491905 63491905 + Silent SNP G G A TCGA-E9-A1RF-01A-11D-A159-09 TCGA-E9-A1RF-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43983619-d863-4816-a334-445f6ca36541 0c36d388-c63d-4ab1-8303-6d5005708525 18 63491905 63491905 G A SNP CDH7 ENST00000323011 human ensembl 69_37n +1 known silent c.819 p.E273 0.929 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH7 HGNC ENSG00000081138 188 0 0.00 47 13 21.67 - - - CDH8 0 genome.wustl.edu 37 16 61823301 61823301 + Missense_Mutation SNP C C G TCGA-E9-A1RF-01A-11D-A159-09 TCGA-E9-A1RF-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43983619-d863-4816-a334-445f6ca36541 0c36d388-c63d-4ab1-8303-6d5005708525 16 61823301 61823301 C G SNP CDH8 ENST00000577390 human ensembl 69_37n -1 known missense c.1363 p.D455H 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors CDH8 HGNC ENSG00000150394 218 0 0.00 88 11 11.11 - - - CDH9 0 genome.wustl.edu 37 5 26890044 26890044 + Silent SNP G G A TCGA-E9-A1RF-01A-11D-A159-09 TCGA-E9-A1RF-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43983619-d863-4816-a334-445f6ca36541 0c36d388-c63d-4ab1-8303-6d5005708525 5 26890044 26890044 G A SNP CDH9 ENST00000231021 human ensembl 69_37n -1 known silent c.1413 p.H471 0.003 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH9 HGNC ENSG00000113100 282 0 0.00 64 10 13.51 - - - CDK5RAP2 0 genome.wustl.edu 37 9 123201828 123201828 + Missense_Mutation SNP G G C TCGA-E9-A1RF-01A-11D-A159-09 TCGA-E9-A1RF-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43983619-d863-4816-a334-445f6ca36541 0c36d388-c63d-4ab1-8303-6d5005708525 9 123201828 123201828 G C SNP CDK5RAP2 ENST00000349780 human ensembl 69_37n -1 known missense c.3571 p.P1191A 0.465 NULL pfam_Spindle_assoc - no_errors CDK5RAP2 HGNC ENSG00000136861 157 0 0.00 53 9 14.52 - - - CGN 0 genome.wustl.edu 37 1 151492732 151492732 + Silent SNP C C T TCGA-E9-A1RF-01A-11D-A159-09 TCGA-E9-A1RF-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43983619-d863-4816-a334-445f6ca36541 0c36d388-c63d-4ab1-8303-6d5005708525 1 151492732 151492732 C T SNP CGN ENST00000271636 human ensembl 69_37n +1 known silent c.964 p.L322 1.000 NULL pfam_Myosin_tail - no_errors CGN HGNC ENSG00000143375 41 0 0.00 23 6 20.69 - - - CKB 0 genome.wustl.edu 37 14 103986486 103986486 + Missense_Mutation SNP G G A TCGA-E9-A1RF-01A-11D-A159-09 TCGA-E9-A1RF-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43983619-d863-4816-a334-445f6ca36541 0c36d388-c63d-4ab1-8303-6d5005708525 14 103986486 103986486 G A SNP CKB ENST00000348956 human ensembl 69_37n -1 known missense c.940 p.R314W 1.000 pfam_ATP-guanido_PTrfase_cat pfam_ATP-guanido_PTrfase_cat,pfam_ATP-guanido_PTrfase_N,superfamily_ATP-guanido_PTrfase_N - no_errors CKB HGNC ENSG00000166165 50 0 0.00 22 5 18.52 - - - CLCN6 0 genome.wustl.edu 37 1 11893963 11893963 + Frame_Shift_Del DEL T T - TCGA-E9-A1RF-01A-11D-A159-09 TCGA-E9-A1RF-10A-01D-A159-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43983619-d863-4816-a334-445f6ca36541 0c36d388-c63d-4ab1-8303-6d5005708525 1 11893963 11893963 T - DEL CLCN6 ENST00000346436 human ensembl 69_37n +1 known frame_shift_del c.1402 p.F468fs 1.000 pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,smart_Cysta_beta_synth_core,prints_Cl-channel_volt-gated,prints_Cl_channel-6 - no_errors CLCN6 HGNC ENSG00000011021 262 0 0.00 68 44 38.60 - - - COMP 0 genome.wustl.edu 37 19 18899673 18899673 + Missense_Mutation SNP G G A TCGA-E9-A1RF-01A-11D-A159-09 TCGA-E9-A1RF-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43983619-d863-4816-a334-445f6ca36541 0c36d388-c63d-4ab1-8303-6d5005708525 19 18899673 18899673 G A SNP COMP ENST00000222271 human ensembl 69_37n -1 known missense c.578 p.P193L 1.000 pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom pfam_Thrombospondin_C,pfam_EGF-like_Ca-bd,pfam_Thbs/COMP_coiled-coil,pfam_Thrombospondin_3-like_rpt,superfamily_ConA-like_lec_gl,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom - no_errors COMP HGNC ENSG00000105664 34 0 0.00 18 6 25.00 - - - CTNNA2 0 genome.wustl.edu 37 2 80773158 80773158 + Missense_Mutation SNP A A C TCGA-E9-A1RF-01A-11D-A159-09 TCGA-E9-A1RF-10A-01D-A159-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43983619-d863-4816-a334-445f6ca36541 0c36d388-c63d-4ab1-8303-6d5005708525 2 80773158 80773158 A C SNP CTNNA2 ENST00000361291 human ensembl 69_37n +1 known missense c.1612 p.T538P 1.000 pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA2 HGNC ENSG00000066032 81 0 0.00 32 6 15.79 - - - CTU2 0 genome.wustl.edu 37 16 88781476 88781476 + Silent SNP G G A TCGA-E9-A1RF-01A-11D-A159-09 TCGA-E9-A1RF-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43983619-d863-4816-a334-445f6ca36541 0c36d388-c63d-4ab1-8303-6d5005708525 16 88781476 88781476 G A SNP CTU2 ENST00000567949 human ensembl 69_37n +1 known silent c.1653 p.P551 0.030 NULL pfam_Thiouridylase_cyt_su2 - no_errors CTU2 HGNC ENSG00000174177 53 0 0.00 25 16 39.02 - - - CXorf57 0 genome.wustl.edu 37 X 105879795 105879795 + Missense_Mutation SNP G G T TCGA-E9-A1RF-01A-11D-A159-09 TCGA-E9-A1RF-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43983619-d863-4816-a334-445f6ca36541 0c36d388-c63d-4ab1-8303-6d5005708525 X 105879795 105879795 G T SNP CXorf57 ENST00000372548 human ensembl 69_37n +1 known missense c.1326 p.Q442H 0.998 NULL superfamily_NA-bd_OB-fold-like - no_errors CXorf57 HGNC ENSG00000147231 210 0 0.00 56 13 18.84 - - - DGKI 0 genome.wustl.edu 37 7 137293718 137293718 + Silent SNP G G C TCGA-E9-A1RF-01A-11D-A159-09 TCGA-E9-A1RF-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43983619-d863-4816-a334-445f6ca36541 0c36d388-c63d-4ab1-8303-6d5005708525 7 137293718 137293718 G C SNP DGKI ENST00000424189 human ensembl 69_37n -1 known silent c.1161 p.G387 0.999 pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors DGKI HGNC ENSG00000157680 182 0 0.00 81 17 17.35 - - - DOCK10 0 genome.wustl.edu 37 2 225652079 225652079 + Silent SNP C C T TCGA-E9-A1RF-01A-11D-A159-09 TCGA-E9-A1RF-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43983619-d863-4816-a334-445f6ca36541 0c36d388-c63d-4ab1-8303-6d5005708525 2 225652079 225652079 C T SNP DOCK10 ENST00000258390 human ensembl 69_37n -1 known silent c.5454 p.E1818 0.998 superfamily_ARM-type_fold pfam_DOCK,pfam_DUF3398,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK10 HGNC ENSG00000135905 170 0 0.00 67 14 17.28 - - - DPP10 0 genome.wustl.edu 37 2 116066924 116066924 + Missense_Mutation SNP C C G TCGA-E9-A1RF-01A-11D-A159-09 TCGA-E9-A1RF-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43983619-d863-4816-a334-445f6ca36541 0c36d388-c63d-4ab1-8303-6d5005708525 2 116066924 116066924 C G SNP DPP10 ENST00000393147 human ensembl 69_37n +1 known missense c.182 p.T61S 1.000 NULL pfam_Peptidase_S9B,pfam_Peptidase_S9 - no_errors DPP10 HGNC ENSG00000175497 270 0 0.00 44 22 33.33 - - - DSCAM 0 genome.wustl.edu 37 21 41465724 41465724 + Silent SNP G G A TCGA-E9-A1RF-01A-11D-A159-09 TCGA-E9-A1RF-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43983619-d863-4816-a334-445f6ca36541 0c36d388-c63d-4ab1-8303-6d5005708525 21 41465724 41465724 G A SNP DSCAM ENST00000400454 human ensembl 69_37n -1 known silent c.3774 p.S1258 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 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 - no_errors DSCAM HGNC ENSG00000171587 91 0 0.00 16 7 30.43 - - - ELAVL1 0 genome.wustl.edu 37 19 8032481 8032481 + Silent SNP T T G TCGA-E9-A1RF-01A-11D-A159-09 TCGA-E9-A1RF-10A-01D-A159-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43983619-d863-4816-a334-445f6ca36541 0c36d388-c63d-4ab1-8303-6d5005708525 19 8032481 8032481 T G SNP ELAVL1 ENST00000351593 human ensembl 69_37n -1 known silent c.705 p.G235 1.000 tigrfam_ELAD_HUD_SF pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF - no_errors ELAVL1 HGNC ENSG00000066044 84 0 0.00 40 11 21.57 - - - ELOVL5 0 genome.wustl.edu 37 6 53140987 53140987 + Nonsense_Mutation SNP G G C TCGA-E9-A1RF-01A-11D-A159-09 TCGA-E9-A1RF-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43983619-d863-4816-a334-445f6ca36541 0c36d388-c63d-4ab1-8303-6d5005708525 6 53140987 53140987 G C SNP ELOVL5 ENST00000541407 human ensembl 69_37n -1 known nonsense c.395 p.S132* 0.997 pfam_GNS1_SUR4 pfam_GNS1_SUR4 - no_errors ELOVL5 HGNC ENSG00000012660 138 0 0.00 38 17 30.91 - - - F8 0 genome.wustl.edu 37 X 154133160 154133160 + Missense_Mutation SNP C C A TCGA-E9-A1RF-01A-11D-A159-09 TCGA-E9-A1RF-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43983619-d863-4816-a334-445f6ca36541 0c36d388-c63d-4ab1-8303-6d5005708525 X 154133160 154133160 C A SNP F8 ENST00000360256 human ensembl 69_37n -1 known missense c.5512 p.V1838L 0.931 superfamily_Cupredoxin pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors F8 HGNC ENSG00000185010 223 0 0.00 27 46 63.01 - - - FAM117A 0 genome.wustl.edu 37 17 47793671 47793671 + Missense_Mutation SNP G G A TCGA-E9-A1RF-01A-11D-A159-09 TCGA-E9-A1RF-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43983619-d863-4816-a334-445f6ca36541 0c36d388-c63d-4ab1-8303-6d5005708525 17 47793671 47793671 G A SNP FAM117A ENST00000240364 human ensembl 69_37n -1 known missense c.917 p.S306F 1.000 NULL NULL - no_errors FAM117A HGNC ENSG00000121104 83 0 0.00 112 46 29.11 - - - FAM75A6 0 genome.wustl.edu 37 9 43630592 43630592 + Missense_Mutation SNP C C A TCGA-E9-A1RF-01A-11D-A159-09 TCGA-E9-A1RF-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43983619-d863-4816-a334-445f6ca36541 0c36d388-c63d-4ab1-8303-6d5005708525 9 43630592 43630592 C A SNP FAM75A6 ENST00000332857 human ensembl 69_37n -1 known missense c.110 p.G37V 0.303 NULL NULL - no_errors FAM75A6 HGNC ENSG00000185775 144 0 0.00 36 16 30.19 - - - FMN2 0 genome.wustl.edu 37 1 240494024 240494024 + Missense_Mutation SNP C C T TCGA-E9-A1RF-01A-11D-A159-09 TCGA-E9-A1RF-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43983619-d863-4816-a334-445f6ca36541 0c36d388-c63d-4ab1-8303-6d5005708525 1 240494024 240494024 C T SNP FMN2 ENST00000319653 human ensembl 69_37n +1 known missense c.4559 p.P1520L 1.000 pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg pfam_FH2_actin-bd,pfam_Formin_homology_1,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg,pfscan_DEP_dom - no_errors FMN2 HGNC ENSG00000155816 156 0 0.00 27 44 61.97 - - - FUK 0 genome.wustl.edu 37 16 70512513 70512513 + Frame_Shift_Del DEL G G - TCGA-E9-A1RF-01A-11D-A159-09 TCGA-E9-A1RF-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43983619-d863-4816-a334-445f6ca36541 0c36d388-c63d-4ab1-8303-6d5005708525 16 70512513 70512513 G - DEL FUK ENST00000378912 human ensembl 69_37n +1 known frame_shift_del c.2907 p.V970fs 1.000 NULL pfam_Fucokinase,pfam_GHMP_kinase_C_dom,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Trimer_LpxA-like,prints_Galkinase - no_errors FUK HGNC ENSG00000157353 46 0 0.00 10 3 23.08 - - - GABRA2 0 genome.wustl.edu 37 4 46264108 46264108 + Missense_Mutation SNP G G C TCGA-E9-A1RF-01A-11D-A159-09 TCGA-E9-A1RF-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43983619-d863-4816-a334-445f6ca36541 0c36d388-c63d-4ab1-8303-6d5005708525 4 46264108 46264108 G C SNP GABRA2 ENST00000540012 human ensembl 69_37n -1 known missense c.729 p.I243M 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa2_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRA2 HGNC ENSG00000151834 117 0 0.00 35 7 16.67 - - - GARNL3 0 genome.wustl.edu 37 9 130095401 130095401 + Splice_Site SNP G G C TCGA-E9-A1RF-01A-11D-A159-09 TCGA-E9-A1RF-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43983619-d863-4816-a334-445f6ca36541 0c36d388-c63d-4ab1-8303-6d5005708525 9 130095401 130095401 G C SNP GARNL3 ENST00000373387 human ensembl 69_37n +1 known splice_site c.769+1 e9+1 1.000 - - - no_errors GARNL3 HGNC ENSG00000136895 106 1 0.93 27 8 22.86 - - - GATA3 0 genome.wustl.edu 37 10 8111471 8111472 + Frame_Shift_Ins INS - - T TCGA-E9-A1RF-01A-11D-A159-09 TCGA-E9-A1RF-10A-01D-A159-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43983619-d863-4816-a334-445f6ca36541 0c36d388-c63d-4ab1-8303-6d5005708525 10 8111471 8111472 - T INS GATA3 ENST00000379328 human ensembl 69_37n +1 known frame_shift_ins c.960_961 p.C320fs 1.000:1.000 pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA - no_errors GATA3 HGNC ENSG00000107485 110 0 0.00 28 20 41.67 - - - GBAP1 0 genome.wustl.edu 37 1 155187362 155187362 + RNA SNP A A G TCGA-E9-A1RF-01A-11D-A159-09 TCGA-E9-A1RF-10A-01D-A159-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43983619-d863-4816-a334-445f6ca36541 0c36d388-c63d-4ab1-8303-6d5005708525 1 155187362 155187362 A G SNP GBAP1 ENST00000486869 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors GBAP1 HGNC ENSG00000160766 26 0 0.00 5 8 61.54 - - - GBP4 0 genome.wustl.edu 37 1 89658761 89658761 + Missense_Mutation SNP G G C TCGA-E9-A1RF-01A-11D-A159-09 TCGA-E9-A1RF-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43983619-d863-4816-a334-445f6ca36541 0c36d388-c63d-4ab1-8303-6d5005708525 1 89658761 89658761 G C SNP GBP4 ENST00000355754 human ensembl 69_37n -1 known missense c.496 p.L166V 0.061 pfam_Guanylate-bd_N pfam_Guanylate-bd_C,pfam_Guanylate-bd_N,superfamily_Guanylate-bd_C - no_errors GBP4 HGNC ENSG00000162654 177 0 0.00 48 25 34.25 - - - GGT1 0 genome.wustl.edu 37 22 25023502 25023502 + Missense_Mutation SNP C C T TCGA-E9-A1RF-01A-11D-A159-09 TCGA-E9-A1RF-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43983619-d863-4816-a334-445f6ca36541 0c36d388-c63d-4ab1-8303-6d5005708525 22 25023502 25023502 C T SNP GGT1 ENST00000248923 human ensembl 69_37n +1 known missense c.1124 p.T375M 0.252 pfam_GGT_peptidase,tigrfam_GGT_peptidase pfam_GGT_peptidase,prints_GGT_peptidase,tigrfam_GGT_peptidase - no_errors GGT1 HGNC ENSG00000100031 79 0 0.00 31 11 26.19 - - - GNPAT 0 genome.wustl.edu 37 1 231411054 231411054 + Missense_Mutation SNP C C T TCGA-E9-A1RF-01A-11D-A159-09 TCGA-E9-A1RF-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43983619-d863-4816-a334-445f6ca36541 0c36d388-c63d-4ab1-8303-6d5005708525 1 231411054 231411054 C T SNP GNPAT ENST00000366647 human ensembl 69_37n +1 known missense c.1831 p.L611F 0.999 NULL pfam_Acyltransferase,smart_Acyltransferase - no_errors GNPAT HGNC ENSG00000116906 161 0 0.00 109 13 10.66 - - - GNPDA2 0 genome.wustl.edu 37 4 44709931 44709931 + Missense_Mutation SNP T T C TCGA-E9-A1RF-01A-11D-A159-09 TCGA-E9-A1RF-10A-01D-A159-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43983619-d863-4816-a334-445f6ca36541 0c36d388-c63d-4ab1-8303-6d5005708525 4 44709931 44709931 T C SNP GNPDA2 ENST00000295448 human ensembl 69_37n -1 known missense c.607 p.I203V 1.000 pfam_Glc/Gal-6P_isomerase,tigrfam_Glucosamine6P_isomerase pfam_Glc/Gal-6P_isomerase,tigrfam_Glucosamine6P_isomerase - no_errors GNPDA2 HGNC ENSG00000163281 98 0 0.00 32 15 31.91 - - - GPR17 0 genome.wustl.edu 37 2 128407626 128407626 + Missense_Mutation SNP C C A TCGA-E9-A1RF-01A-11D-A159-09 TCGA-E9-A1RF-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43983619-d863-4816-a334-445f6ca36541 0c36d388-c63d-4ab1-8303-6d5005708525 2 128407626 128407626 C A SNP GPR17 ENST00000272644 human ensembl 69_37n +1 known missense c.40 p.P14T 0.000 NULL pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_P2_purnocptor,prints_Protea_act_rcpt - no_errors GPR17 HGNC ENSG00000144230 54 0 0.00 17 5 22.73 - - - GPR88 0 genome.wustl.edu 37 1 101004699 101004699 + Silent SNP C C T TCGA-E9-A1RF-01A-11D-A159-09 TCGA-E9-A1RF-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43983619-d863-4816-a334-445f6ca36541 0c36d388-c63d-4ab1-8303-6d5005708525 1 101004699 101004699 C T SNP GPR88 ENST00000315033 human ensembl 69_37n +1 known silent c.177 p.F59 1.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors GPR88 HGNC ENSG00000181656 21 0 0.00 13 5 27.78 - - - GRIK2 0 genome.wustl.edu 37 6 102483396 102483396 + Missense_Mutation SNP G G C TCGA-E9-A1RF-01A-11D-A159-09 TCGA-E9-A1RF-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43983619-d863-4816-a334-445f6ca36541 0c36d388-c63d-4ab1-8303-6d5005708525 6 102483396 102483396 G C SNP GRIK2 ENST00000421544 human ensembl 69_37n +1 known missense c.2266 p.G756R 1.000 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK2 HGNC ENSG00000164418 61 0 0.00 41 7 14.58 - - - HIST1H4L 0 genome.wustl.edu 37 6 27841034 27841034 + Missense_Mutation SNP C C T TCGA-E9-A1RF-01A-11D-A159-09 TCGA-E9-A1RF-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43983619-d863-4816-a334-445f6ca36541 0c36d388-c63d-4ab1-8303-6d5005708525 6 27841034 27841034 C T SNP HIST1H4L ENST00000355981 human ensembl 69_37n -1 known missense c.255 p.M85I 1.000 pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4 pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4 - no_errors HIST1H4L HGNC ENSG00000198558 91 0 0.00 25 12 32.43 - - - HIST2H2AC 0 genome.wustl.edu 37 1 149858554 149858554 + Silent SNP G G A TCGA-E9-A1RF-01A-11D-A159-09 TCGA-E9-A1RF-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43983619-d863-4816-a334-445f6ca36541 0c36d388-c63d-4ab1-8303-6d5005708525 1 149858554 149858554 G A SNP HIST2H2AC ENST00000331380 human ensembl 69_37n +1 known silent c.30 p.K10 0.991 superfamily_Histone-fold,smart_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST2H2AC HGNC ENSG00000184260 70 0 0.00 52 13 20.00 - - - HMCN1 0 genome.wustl.edu 37 1 185892721 185892721 + Silent SNP C C A TCGA-E9-A1RF-01A-11D-A159-09 TCGA-E9-A1RF-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43983619-d863-4816-a334-445f6ca36541 0c36d388-c63d-4ab1-8303-6d5005708525 1 185892721 185892721 C A SNP HMCN1 ENST00000271588 human ensembl 69_37n +1 known silent c.1221 p.G407 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd,pfam_Thrombospondin_1_rpt,superfamily_Green_fluorescent_prot-like,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like - no_errors HMCN1 HGNC ENSG00000143341 136 0 0.00 78 17 17.89 - - - HPD 0 genome.wustl.edu 37 12 122277893 122277893 + Missense_Mutation SNP G G A TCGA-E9-A1RF-01A-11D-A159-09 TCGA-E9-A1RF-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43983619-d863-4816-a334-445f6ca36541 0c36d388-c63d-4ab1-8303-6d5005708525 12 122277893 122277893 G A SNP HPD ENST00000289004 human ensembl 69_37n -1 known missense c.1016 p.P339L 1.000 pirsf_4OHPhenylPyrv_dOase,tigrfam_4OHPhenylPyrv_dOase pfam_Glyas_Fos-R_dOase_dom,pirsf_4OHPhenylPyrv_dOase,tigrfam_4OHPhenylPyrv_dOase - no_errors HPD HGNC ENSG00000158104 72 0 0.00 38 9 19.15 - - - IFNA2 0 genome.wustl.edu 37 9 21385064 21385064 + Missense_Mutation SNP G G T TCGA-E9-A1RF-01A-11D-A159-09 TCGA-E9-A1RF-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43983619-d863-4816-a334-445f6ca36541 0c36d388-c63d-4ab1-8303-6d5005708525 9 21385064 21385064 G T SNP IFNA2 ENST00000380206 human ensembl 69_37n -1 known missense c.265 p.L89I 0.404 pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta - no_errors IFNA2 HGNC ENSG00000188379 179 0 0.00 37 12 24.49 - - - IKZF4 0 genome.wustl.edu 37 12 56418866 56418866 + Missense_Mutation SNP G G T TCGA-E9-A1RF-01A-11D-A159-09 TCGA-E9-A1RF-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43983619-d863-4816-a334-445f6ca36541 0c36d388-c63d-4ab1-8303-6d5005708525 12 56418866 56418866 G T SNP IKZF4 ENST00000262032 human ensembl 69_37n +1 known missense c.210 p.E70D 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors IKZF4 HGNC ENSG00000123411 30 0 0.00 16 4 20.00 - - - IL12RB2 0 genome.wustl.edu 37 1 67855764 67855764 + Missense_Mutation SNP C C T TCGA-E9-A1RF-01A-11D-A159-09 TCGA-E9-A1RF-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43983619-d863-4816-a334-445f6ca36541 0c36d388-c63d-4ab1-8303-6d5005708525 1 67855764 67855764 C T SNP IL12RB2 ENST00000262345 human ensembl 69_37n +1 known missense c.1999 p.P667S 1.000 NULL pfam_Fibronectin_type3,pfam_IgC2-like_lig-bd,pfam_IL6_recept-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL12RB2 HGNC ENSG00000081985 117 0 0.00 38 6 13.64 - - - IRAK4 0 genome.wustl.edu 37 12 44176271 44176271 + Missense_Mutation SNP C C A TCGA-E9-A1RF-01A-11D-A159-09 TCGA-E9-A1RF-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43983619-d863-4816-a334-445f6ca36541 0c36d388-c63d-4ab1-8303-6d5005708525 12 44176271 44176271 C A SNP IRAK4 ENST00000448290 human ensembl 69_37n +1 known missense c.1103 p.S368Y 1.000 pirsf_Interleukin-1_rcpt-assoc_kin4,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pirsf_Interleukin-1_rcpt-assoc_kin4,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_DEATH-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors IRAK4 HGNC ENSG00000198001 80 0 0.00 26 13 33.33 - - - ISYNA1 0 genome.wustl.edu 37 19 18545910 18545910 + Missense_Mutation SNP G G A TCGA-E9-A1RF-01A-11D-A159-09 TCGA-E9-A1RF-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43983619-d863-4816-a334-445f6ca36541 0c36d388-c63d-4ab1-8303-6d5005708525 19 18545910 18545910 G A SNP ISYNA1 ENST00000338128 human ensembl 69_37n -1 known missense c.1490 p.P497L 0.996 pirsf_Myo-inos-1-P_Synthase pfam_Myo-inos-1-P_Synthase,pfam_Myo-inos-1-P_Synthase_GAPDH,pirsf_Myo-inos-1-P_Synthase - no_errors ISYNA1 HGNC ENSG00000105655 32 0 0.00 21 5 19.23 - - - KDM6A 0 genome.wustl.edu 37 X 44913106 44913106 + Missense_Mutation SNP G G C TCGA-E9-A1RF-01A-11D-A159-09 TCGA-E9-A1RF-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43983619-d863-4816-a334-445f6ca36541 0c36d388-c63d-4ab1-8303-6d5005708525 X 44913106 44913106 G C SNP KDM6A ENST00000382899 human ensembl 69_37n +1 known missense c.781 p.D261H 1.000 pfscan_TPR-contain_dom pfam_JmjC_dom,pfam_TPR-1,smart_TPR_repeat,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors KDM6A HGNC ENSG00000147050 165 0 0.00 33 10 23.26 - - - KIAA0232 0 genome.wustl.edu 37 4 6863768 6863768 + Silent SNP A A T TCGA-E9-A1RF-01A-11D-A159-09 TCGA-E9-A1RF-10A-01D-A159-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43983619-d863-4816-a334-445f6ca36541 0c36d388-c63d-4ab1-8303-6d5005708525 4 6863768 6863768 A T SNP KIAA0232 ENST00000307659 human ensembl 69_37n +1 known silent c.1659 p.I553 1.000 NULL NULL - no_errors KIAA0232 HGNC ENSG00000170871 177 0 0.00 55 12 17.91 - - - KIAA1549L 0 genome.wustl.edu 37 11 33581421 33581421 + Missense_Mutation SNP T T C TCGA-E9-A1RF-01A-11D-A159-09 TCGA-E9-A1RF-10A-01D-A159-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43983619-d863-4816-a334-445f6ca36541 0c36d388-c63d-4ab1-8303-6d5005708525 11 33581421 33581421 T C SNP KIAA1549L ENST00000389726 human ensembl 69_37n +1 known missense c.3109 p.F1037L 1.000 NULL NULL - no_errors KIAA1549L HGNC ENSG00000110427 47 0 0.00 28 8 22.22 - - - KIDINS220 0 genome.wustl.edu 37 2 8919137 8919137 + Missense_Mutation SNP G G A TCGA-E9-A1RF-01A-11D-A159-09 TCGA-E9-A1RF-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43983619-d863-4816-a334-445f6ca36541 0c36d388-c63d-4ab1-8303-6d5005708525 2 8919137 8919137 G A SNP KIDINS220 ENST00000256707 human ensembl 69_37n -1 known missense c.2503 p.R835C 1.000 pfam_KAP_NTPase pfam_KAP_NTPase,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KIDINS220 HGNC ENSG00000134313 208 0 0.00 70 18 20.22 - - - KIF16B 0 genome.wustl.edu 37 20 16354954 16354954 + Missense_Mutation SNP T T C TCGA-E9-A1RF-01A-11D-A159-09 TCGA-E9-A1RF-10A-01D-A159-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43983619-d863-4816-a334-445f6ca36541 0c36d388-c63d-4ab1-8303-6d5005708525 20 16354954 16354954 T C SNP KIF16B ENST00000408042 human ensembl 69_37n -1 known missense c.3298 p.S1100G 0.001 NULL pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF16B HGNC ENSG00000089177 98 0 0.00 53 14 20.90 - - - KLHL10 0 genome.wustl.edu 37 17 40004264 40004264 + Missense_Mutation SNP C C G TCGA-E9-A1RF-01A-11D-A159-09 TCGA-E9-A1RF-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43983619-d863-4816-a334-445f6ca36541 0c36d388-c63d-4ab1-8303-6d5005708525 17 40004264 40004264 C G SNP KLHL10 ENST00000293303 human ensembl 69_37n +1 known missense c.1532 p.P511R 1.000 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL10 HGNC ENSG00000161594 137 0 0.00 45 6 11.76 - - - KRTAP10-5 0 genome.wustl.edu 37 21 45999699 45999699 + Missense_Mutation SNP G G A TCGA-E9-A1RF-01A-11D-A159-09 TCGA-E9-A1RF-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43983619-d863-4816-a334-445f6ca36541 0c36d388-c63d-4ab1-8303-6d5005708525 21 45999699 45999699 G A SNP KRTAP10-5 ENST00000400372 human ensembl 69_37n -1 known missense c.757 p.R253C 0.881 NULL NULL - no_errors KRTAP10-5 HGNC ENSG00000241123 52 0 0.00 25 15 37.50 - - - LETM1 0 genome.wustl.edu 37 4 1834627 1834627 + Silent SNP A A G TCGA-E9-A1RF-01A-11D-A159-09 TCGA-E9-A1RF-10A-01D-A159-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43983619-d863-4816-a334-445f6ca36541 0c36d388-c63d-4ab1-8303-6d5005708525 4 1834627 1834627 A G SNP LETM1 ENST00000302787 human ensembl 69_37n -1 known silent c.924 p.F308 1.000 pfam_LETM1 pfam_LETM1,pfscan_EF_HAND_2 - no_errors LETM1 HGNC ENSG00000168924 61 0 0.00 31 11 26.19 - - - LIPI 0 genome.wustl.edu 37 21 15554120 15554120 + Missense_Mutation SNP G G T TCGA-E9-A1RF-01A-11D-A159-09 TCGA-E9-A1RF-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43983619-d863-4816-a334-445f6ca36541 0c36d388-c63d-4ab1-8303-6d5005708525 21 15554120 15554120 G T SNP LIPI ENST00000344577 human ensembl 69_37n -1 known missense c.665 p.T222K 0.998 pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase - no_errors LIPI HGNC ENSG00000188992 141 0 0.00 25 15 37.50 - - - LPIN2 0 genome.wustl.edu 37 18 2937960 2937960 + Missense_Mutation SNP C C G TCGA-E9-A1RF-01A-11D-A159-09 TCGA-E9-A1RF-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43983619-d863-4816-a334-445f6ca36541 0c36d388-c63d-4ab1-8303-6d5005708525 18 2937960 2937960 C G SNP LPIN2 ENST00000261596 human ensembl 69_37n -1 known missense c.898 p.V300L 1.000 NULL pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,smart_LNS2 - no_errors LPIN2 HGNC ENSG00000101577 153 0 0.00 36 23 38.98 - - - LRTM2 0 genome.wustl.edu 37 12 1940299 1940299 + Missense_Mutation SNP C C A TCGA-E9-A1RF-01A-11D-A159-09 TCGA-E9-A1RF-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43983619-d863-4816-a334-445f6ca36541 0c36d388-c63d-4ab1-8303-6d5005708525 12 1940299 1940299 C A SNP LRTM2 ENST00000299194 human ensembl 69_37n +1 known missense c.266 p.A89D 0.997 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRTM2 HGNC ENSG00000166159 25 0 0.00 14 5 26.32 - - - MDH1B 0 genome.wustl.edu 37 2 207625725 207625725 + Missense_Mutation SNP C C A TCGA-E9-A1RF-01A-11D-A159-09 TCGA-E9-A1RF-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43983619-d863-4816-a334-445f6ca36541 0c36d388-c63d-4ab1-8303-6d5005708525 2 207625725 207625725 C A SNP MDH1B ENST00000374412 human ensembl 69_37n -1 known missense c.35 p.C12F 1.000 NULL pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C - no_errors MDH1B HGNC ENSG00000138400 136 0 0.00 33 7 17.50 - - - MIR301A 0 genome.wustl.edu 37 17 57228573 57228573 + RNA SNP C C T TCGA-E9-A1RF-01A-11D-A159-09 TCGA-E9-A1RF-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43983619-d863-4816-a334-445f6ca36541 0c36d388-c63d-4ab1-8303-6d5005708525 17 57228573 57228573 C T SNP MIR301A ENST00000385261 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors MIR301A HGNC ENSG00000207996 147 0 0.00 67 10 12.99 - - - MOBP 0 genome.wustl.edu 37 3 39543701 39543701 + Missense_Mutation SNP T T G TCGA-E9-A1RF-01A-11D-A159-09 TCGA-E9-A1RF-10A-01D-A159-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43983619-d863-4816-a334-445f6ca36541 0c36d388-c63d-4ab1-8303-6d5005708525 3 39543701 39543701 T G SNP MOBP ENST00000354668 human ensembl 69_37n +1 known missense c.141 p.C47W 0.951 NULL NULL - no_errors MOBP HGNC ENSG00000168314 45 0 0.00 26 4 13.33 - - - MYD88 0 genome.wustl.edu 37 3 38182756 38182756 + Silent SNP C C G TCGA-E9-A1RF-01A-11D-A159-09 TCGA-E9-A1RF-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43983619-d863-4816-a334-445f6ca36541 0c36d388-c63d-4ab1-8303-6d5005708525 3 38182756 38182756 C G SNP MYD88 ENST00000417037 human ensembl 69_37n +1 known silent c.933 p.A311 1.000 pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pirsf_Myelin_different_resp_MyD88,pfscan_TIR_dom pfam_TIR_dom,pfam_Death,superfamily_DEATH-like,superfamily_TIR_dom,smart_Death,smart_TIR_dom,pirsf_Myelin_different_resp_MyD88,pfscan_Death,pfscan_TIR_dom - no_errors MYD88 HGNC ENSG00000172936 119 0 0.00 43 14 24.56 - - - MYH8 0 genome.wustl.edu 37 17 10318692 10318692 + Missense_Mutation SNP C C G TCGA-E9-A1RF-01A-11D-A159-09 TCGA-E9-A1RF-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43983619-d863-4816-a334-445f6ca36541 0c36d388-c63d-4ab1-8303-6d5005708525 17 10318692 10318692 C G SNP MYH8 ENST00000403437 human ensembl 69_37n -1 known missense c.658 p.E220Q 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH8 HGNC ENSG00000133020 201 1 0.50 24 18 42.86 - - - NCKAP1 0 genome.wustl.edu 37 2 183843584 183843584 + Missense_Mutation SNP C C A TCGA-E9-A1RF-01A-11D-A159-09 TCGA-E9-A1RF-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43983619-d863-4816-a334-445f6ca36541 0c36d388-c63d-4ab1-8303-6d5005708525 2 183843584 183843584 C A SNP NCKAP1 ENST00000360982 human ensembl 69_37n -1 known missense c.1419 p.M473I 1.000 pfam_Nck-associated_protein-1 pfam_Nck-associated_protein-1 - no_errors NCKAP1 HGNC ENSG00000061676 95 0 0.00 26 7 21.21 - - - NCKAP5 0 genome.wustl.edu 37 2 133483301 133483301 + Missense_Mutation SNP G G T TCGA-E9-A1RF-01A-11D-A159-09 TCGA-E9-A1RF-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43983619-d863-4816-a334-445f6ca36541 0c36d388-c63d-4ab1-8303-6d5005708525 2 133483301 133483301 G T SNP NCKAP5 ENST00000317721 human ensembl 69_37n -1 known missense c.5612 p.A1871D 1.000 NULL NULL - no_errors NCKAP5 HGNC ENSG00000176771 150 0 0.00 38 9 18.75 - - - NCOR1 0 genome.wustl.edu 37 17 15989636 15989636 + Nonsense_Mutation SNP G G T TCGA-E9-A1RF-01A-11D-A159-09 TCGA-E9-A1RF-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43983619-d863-4816-a334-445f6ca36541 0c36d388-c63d-4ab1-8303-6d5005708525 17 15989636 15989636 G T SNP NCOR1 ENST00000268712 human ensembl 69_37n -1 known nonsense c.3137 p.S1046* 1.000 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR1 HGNC ENSG00000141027 135 1 0.74 32 32 49.23 - - - NDUFA6 0 genome.wustl.edu 37 22 42483141 42483141 + Missense_Mutation SNP G G A TCGA-E9-A1RF-01A-11D-A159-09 TCGA-E9-A1RF-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43983619-d863-4816-a334-445f6ca36541 0c36d388-c63d-4ab1-8303-6d5005708525 22 42483141 42483141 G A SNP NDUFA6 ENST00000498737 human ensembl 69_37n -1 known missense c.256 p.R86W 0.999 pfam_Complex1_LYR pfam_Complex1_LYR - no_errors NDUFA6 HGNC ENSG00000184983 113 0 0.00 37 10 21.28 - - - NSL1 0 genome.wustl.edu 37 1 212912896 212912896 + Missense_Mutation SNP C C G TCGA-E9-A1RF-01A-11D-A159-09 TCGA-E9-A1RF-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43983619-d863-4816-a334-445f6ca36541 0c36d388-c63d-4ab1-8303-6d5005708525 1 212912896 212912896 C G SNP NSL1 ENST00000366977 human ensembl 69_37n -1 known missense c.547 p.E183Q 0.988 pfam_Kinetochore_Mis14 pfam_Kinetochore_Mis14 - no_errors NSL1 HGNC ENSG00000117697 324 0 0.00 160 41 20.40 - - - NUMBL 0 genome.wustl.edu 37 19 41175875 41175875 + Missense_Mutation SNP G G C TCGA-E9-A1RF-01A-11D-A159-09 TCGA-E9-A1RF-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43983619-d863-4816-a334-445f6ca36541 0c36d388-c63d-4ab1-8303-6d5005708525 19 41175875 41175875 G C SNP NUMBL ENST00000252891 human ensembl 69_37n -1 known missense c.1087 p.L363V 0.954 pfam_Numb_domain,pirsf_Numb/numb-like pfam_Numb_domain,pfam_PTyr_interaction_dom,pfam_PTB,smart_PTyr_interaction_dom,pirsf_Numb/numb-like,pfscan_PTyr_interaction_dom - no_errors NUMBL HGNC ENSG00000105245 43 0 0.00 10 4 28.57 - - - NUP160 0 genome.wustl.edu 37 11 47869781 47869781 + Silent SNP G G C TCGA-E9-A1RF-01A-11D-A159-09 TCGA-E9-A1RF-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43983619-d863-4816-a334-445f6ca36541 0c36d388-c63d-4ab1-8303-6d5005708525 11 47869781 47869781 G C SNP NUP160 ENST00000378460 human ensembl 69_37n -1 known silent c.192 p.V64 0.103 pfam_Nucleoporin_Nup160 pfam_Nucleoporin_Nup160 - no_errors NUP160 HGNC ENSG00000030066 23 0 0.00 11 6 35.29 - - - OBSCN 0 genome.wustl.edu 37 1 228521396 228521396 + Silent SNP C C A TCGA-E9-A1RF-01A-11D-A159-09 TCGA-E9-A1RF-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43983619-d863-4816-a334-445f6ca36541 0c36d388-c63d-4ab1-8303-6d5005708525 1 228521396 228521396 C A SNP OBSCN ENST00000422127 human ensembl 69_37n +1 known silent c.15969 p.V5323 0.827 pfam_Ig_I-set,smart_Ig_sub2,smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 54 0 0.00 61 13 17.57 - - - OPTC 0 genome.wustl.edu 37 1 203468972 203468972 + Missense_Mutation SNP C C T TCGA-E9-A1RF-01A-11D-A159-09 TCGA-E9-A1RF-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43983619-d863-4816-a334-445f6ca36541 0c36d388-c63d-4ab1-8303-6d5005708525 1 203468972 203468972 C T SNP OPTC ENST00000367222 human ensembl 69_37n +1 known missense c.725 p.A242V 0.251 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors OPTC HGNC ENSG00000188770 57 0 0.00 34 5 12.82 - - - PALLD 0 genome.wustl.edu 37 4 169632939 169632939 + Missense_Mutation SNP C C T TCGA-E9-A1RF-01A-11D-A159-09 TCGA-E9-A1RF-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43983619-d863-4816-a334-445f6ca36541 0c36d388-c63d-4ab1-8303-6d5005708525 4 169632939 169632939 C T SNP PALLD ENST00000261509 human ensembl 69_37n +1 known missense c.1829 p.T610M 0.020 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors PALLD HGNC ENSG00000129116 100 0 0.00 24 9 27.27 - - - PDE10A 0 genome.wustl.edu 37 6 165792776 165792776 + Missense_Mutation SNP A A G TCGA-E9-A1RF-01A-11D-A159-09 TCGA-E9-A1RF-10A-01D-A159-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43983619-d863-4816-a334-445f6ca36541 0c36d388-c63d-4ab1-8303-6d5005708525 6 165792776 165792776 A G SNP PDE10A ENST00000539869 human ensembl 69_37n -1 known missense c.1892 p.I631T 1.000 pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE10A HGNC ENSG00000112541 210 0 0.00 29 33 53.23 - - - PGA5 0 genome.wustl.edu 37 11 61017398 61017398 + Missense_Mutation SNP G G C TCGA-E9-A1RF-01A-11D-A159-09 TCGA-E9-A1RF-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43983619-d863-4816-a334-445f6ca36541 0c36d388-c63d-4ab1-8303-6d5005708525 11 61017398 61017398 G C SNP PGA5 ENST00000312403 human ensembl 69_37n +1 known missense c.929 p.S310T 0.765 pfam_Peptidase_A1,superfamily_Peptidase_aspartic pfam_Peptidase_A1,pfam_Propep_A1,superfamily_Peptidase_aspartic,prints_Peptidase_A1 - no_errors PGA5 HGNC ENSG00000256713 183 1 0.54 83 22 20.95 - - - PHIP 0 genome.wustl.edu 37 6 79725444 79725444 + Missense_Mutation SNP G G T TCGA-E9-A1RF-01A-11D-A159-09 TCGA-E9-A1RF-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43983619-d863-4816-a334-445f6ca36541 0c36d388-c63d-4ab1-8303-6d5005708525 6 79725444 79725444 G T SNP PHIP ENST00000275034 human ensembl 69_37n -1 known missense c.1292 p.A431D 1.000 superfamily_Quinonprotein_ADH-like,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quinonprotein_ADH-like,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors PHIP HGNC ENSG00000146247 194 0 0.00 59 8 11.94 - - - PIAS4 0 genome.wustl.edu 37 19 4028738 4028738 + Missense_Mutation SNP G G C TCGA-E9-A1RF-01A-11D-A159-09 TCGA-E9-A1RF-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43983619-d863-4816-a334-445f6ca36541 0c36d388-c63d-4ab1-8303-6d5005708525 19 4028738 4028738 G C SNP PIAS4 ENST00000262971 human ensembl 69_37n +1 known missense c.693 p.K231N 1.000 NULL pfam_Znf_MIZ,smart_SAP_DNA-bd,pfscan_Znf_MIZ,pfscan_SAP_DNA-bd - no_errors PIAS4 HGNC ENSG00000105229 26 0 0.00 18 4 18.18 - - - PIGB 0 genome.wustl.edu 37 15 55633010 55633010 + Silent SNP G G C TCGA-E9-A1RF-01A-11D-A159-09 TCGA-E9-A1RF-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43983619-d863-4816-a334-445f6ca36541 0c36d388-c63d-4ab1-8303-6d5005708525 15 55633010 55633010 G C SNP PIGB ENST00000164305 human ensembl 69_37n +1 known silent c.1047 p.L349 0.499 pfam_GPI_mannosylTrfase pfam_GPI_mannosylTrfase - no_errors PIGB HGNC ENSG00000069943 99 0 0.00 17 9 34.62 - - - PLXND1 0 genome.wustl.edu 37 3 129286352 129286352 + Missense_Mutation SNP G G A TCGA-E9-A1RF-01A-11D-A159-09 TCGA-E9-A1RF-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43983619-d863-4816-a334-445f6ca36541 0c36d388-c63d-4ab1-8303-6d5005708525 3 129286352 129286352 G A SNP PLXND1 ENST00000324093 human ensembl 69_37n -1 known missense c.4069 p.R1357C 1.000 pfam_Plexin_cytoplasmic_RasGAP_dom pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT_TIG_rcpt,pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXND1 HGNC ENSG00000004399 41 0 0.00 41 13 24.07 - - - POLR3GL 0 genome.wustl.edu 37 1 145457582 145457582 + Missense_Mutation SNP C C A TCGA-E9-A1RF-01A-11D-A159-09 TCGA-E9-A1RF-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43983619-d863-4816-a334-445f6ca36541 0c36d388-c63d-4ab1-8303-6d5005708525 1 145457582 145457582 C A SNP POLR3GL ENST00000369314 human ensembl 69_37n -1 known missense c.348 p.E116D 1.000 pfam_RNA_pol_III_Rpc31 pfam_RNA_pol_III_Rpc31 - no_errors POLR3GL HGNC ENSG00000121851 117 0 0.00 82 12 12.77 - - - PRDM6 0 genome.wustl.edu 37 5 122491625 122491625 + Missense_Mutation SNP A A T TCGA-E9-A1RF-01A-11D-A159-09 TCGA-E9-A1RF-10A-01D-A159-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43983619-d863-4816-a334-445f6ca36541 0c36d388-c63d-4ab1-8303-6d5005708525 5 122491625 122491625 A T SNP PRDM6 ENST00000407847 human ensembl 69_37n +1 known missense c.948 p.E316D 0.996 pfam_SET_dom,smart_SET_dom,pfscan_SET_dom pfam_Znf_C2H2,pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM6 HGNC ENSG00000061455 182 0 0.00 48 10 17.24 - - - PRKCB 0 genome.wustl.edu 37 16 24124299 24124299 + Missense_Mutation SNP A A T TCGA-E9-A1RF-01A-11D-A159-09 TCGA-E9-A1RF-10A-01D-A159-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43983619-d863-4816-a334-445f6ca36541 0c36d388-c63d-4ab1-8303-6d5005708525 16 24124299 24124299 A T SNP PRKCB ENST00000303531 human ensembl 69_37n +1 known missense c.827 p.K276M 1.000 superfamily_C2_Ca/lipid-bd_dom_CaLB,pirsf_Protein_kinase_C_a/b/g pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_Ca-dep,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_Ca-dep,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,prints_DAG/PE-bd,prints_C2_dom,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom - no_errors PRKCB HGNC ENSG00000166501 127 0 0.00 39 10 20.41 - - - PRPF6 0 genome.wustl.edu 37 20 62626765 62626765 + Missense_Mutation SNP G G A TCGA-E9-A1RF-01A-11D-A159-09 TCGA-E9-A1RF-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43983619-d863-4816-a334-445f6ca36541 0c36d388-c63d-4ab1-8303-6d5005708525 20 62626765 62626765 G A SNP PRPF6 ENST00000266079 human ensembl 69_37n +1 known missense c.701 p.G234D 1.000 NULL pfam_PRP1_N,smart_HAT,smart_TPR_repeat,pfscan_TPR-contain_dom - no_errors PRPF6 HGNC ENSG00000101161 98 0 0.00 35 10 22.22 - - - RAD51D 0 genome.wustl.edu 37 17 33443953 33443953 + Missense_Mutation SNP C C T TCGA-E9-A1RF-01A-11D-A159-09 TCGA-E9-A1RF-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43983619-d863-4816-a334-445f6ca36541 0c36d388-c63d-4ab1-8303-6d5005708525 17 33443953 33443953 C T SNP RAD51D ENST00000590016 human ensembl 69_37n -1 known missense c.248 p.G83E 0.002 NULL pfam_DNA_recomb/repair_Rad51_C,pfam_Circ_KaiC/RadA,smart_AAA+_ATPase,pfscan_DNA_recomb_RecA/RadB_ATP-bd - no_errors RAD51D HGNC ENSG00000185379 95 0 0.00 34 12 26.09 - - - RAI2 0 genome.wustl.edu 37 X 17819682 17819682 + Missense_Mutation SNP G G T TCGA-E9-A1RF-01A-11D-A159-09 TCGA-E9-A1RF-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43983619-d863-4816-a334-445f6ca36541 0c36d388-c63d-4ab1-8303-6d5005708525 X 17819682 17819682 G T SNP RAI2 ENST00000331511 human ensembl 69_37n -1 known missense c.449 p.T150N 0.869 NULL NULL - no_errors RAI2 HGNC ENSG00000131831 58 0 0.00 30 4 11.76 - - - RBP5 0 genome.wustl.edu 37 12 7280866 7280866 + Silent SNP G G A TCGA-E9-A1RF-01A-11D-A159-09 TCGA-E9-A1RF-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43983619-d863-4816-a334-445f6ca36541 0c36d388-c63d-4ab1-8303-6d5005708525 12 7280866 7280866 G A SNP RBP5 ENST00000266560 human ensembl 69_37n -1 known silent c.222 p.D74 1.000 pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Fatty_acid-bd pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Fatty_acid-bd - no_errors RBP5 HGNC ENSG00000139194 133 0 0.00 55 8 12.50 - - - RETSAT 0 genome.wustl.edu 37 2 85570908 85570908 + Missense_Mutation SNP G G C TCGA-E9-A1RF-01A-11D-A159-09 TCGA-E9-A1RF-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43983619-d863-4816-a334-445f6ca36541 0c36d388-c63d-4ab1-8303-6d5005708525 2 85570908 85570908 G C SNP RETSAT ENST00000295802 human ensembl 69_37n -1 known missense c.1547 p.T516S 0.003 NULL pfam_Amino_oxidase,pfam_FAD_bind_dom,pfam_FAD-dep_OxRdtase,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_mOase_FAD-bd - no_errors RETSAT HGNC ENSG00000042445 52 0 0.00 24 9 27.27 - - - RFPL2 0 genome.wustl.edu 37 22 32589028 32589028 + Nonsense_Mutation SNP G G T TCGA-E9-A1RF-01A-11D-A159-09 TCGA-E9-A1RF-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43983619-d863-4816-a334-445f6ca36541 0c36d388-c63d-4ab1-8303-6d5005708525 22 32589028 32589028 G T SNP RFPL2 ENST00000400237 human ensembl 69_37n -1 known nonsense c.417 p.C139* 0.002 pfam_RDM_domain_RFPL pfam_RDM_domain_RFPL,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY - no_errors RFPL2 HGNC ENSG00000128253 208 0 0.00 74 16 17.78 - - - RPTN 0 genome.wustl.edu 37 1 152128108 152128108 + Missense_Mutation SNP C C G TCGA-E9-A1RF-01A-11D-A159-09 TCGA-E9-A1RF-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43983619-d863-4816-a334-445f6ca36541 0c36d388-c63d-4ab1-8303-6d5005708525 1 152128108 152128108 C G SNP RPTN ENST00000316073 human ensembl 69_37n -1 known missense c.1467 p.K489N 0.001 NULL pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2 - no_errors RPTN HGNC ENSG00000215853 577 1 0.17 304 53 14.85 - - - SALL4 0 genome.wustl.edu 37 20 50405579 50405579 + Frame_Shift_Del DEL T T - TCGA-E9-A1RF-01A-11D-A159-09 TCGA-E9-A1RF-10A-01D-A159-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43983619-d863-4816-a334-445f6ca36541 0c36d388-c63d-4ab1-8303-6d5005708525 20 50405579 50405579 T - DEL SALL4 ENST00000217086 human ensembl 69_37n -1 known frame_shift_del c.2563 p.M855fs 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL4 HGNC ENSG00000101115 54 0 0.00 32 9 21.95 - - - SAMD9 0 genome.wustl.edu 37 7 92731415 92731415 + Missense_Mutation SNP G G C TCGA-E9-A1RF-01A-11D-A159-09 TCGA-E9-A1RF-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43983619-d863-4816-a334-445f6ca36541 0c36d388-c63d-4ab1-8303-6d5005708525 7 92731415 92731415 G C SNP SAMD9 ENST00000379958 human ensembl 69_37n -1 known missense c.3996 p.C1332W 0.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors SAMD9 HGNC ENSG00000205413 122 0 0.00 31 11 26.19 - - - SCYL3 0 genome.wustl.edu 37 1 169825046 169825046 + Silent SNP C C T TCGA-E9-A1RF-01A-11D-A159-09 TCGA-E9-A1RF-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43983619-d863-4816-a334-445f6ca36541 0c36d388-c63d-4ab1-8303-6d5005708525 1 169825046 169825046 C T SNP SCYL3 ENST00000367770 human ensembl 69_37n -1 known silent c.1365 p.L455 0.299 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_HEAT_type_2,pfscan_Prot_kinase_cat_dom - no_errors SCYL3 HGNC ENSG00000000457 134 0 0.00 64 8 11.11 - - - SEMG2 0 genome.wustl.edu 37 20 43851891 43851891 + Missense_Mutation SNP C C G TCGA-E9-A1RF-01A-11D-A159-09 TCGA-E9-A1RF-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43983619-d863-4816-a334-445f6ca36541 0c36d388-c63d-4ab1-8303-6d5005708525 20 43851891 43851891 C G SNP SEMG2 ENST00000372769 human ensembl 69_37n +1 known missense c.1618 p.H540D 0.000 pfam_Semenogelin pfam_Semenogelin - no_errors SEMG2 HGNC ENSG00000124157 85 0 0.00 46 8 14.81 - - - SLC6A13 0 genome.wustl.edu 37 12 368960 368960 + Missense_Mutation SNP G G A TCGA-E9-A1RF-01A-11D-A159-09 TCGA-E9-A1RF-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43983619-d863-4816-a334-445f6ca36541 0c36d388-c63d-4ab1-8303-6d5005708525 12 368960 368960 G A SNP SLC6A13 ENST00000436453 human ensembl 69_37n -1 putative missense c.259 p.L87F 0.043 NULL pfam_Na/ntran_symport,pfscan_Na/ntran_symport - no_errors SLC6A13 HGNC ENSG00000010379 62 0 0.00 18 5 21.74 - - - SMURF1 0 genome.wustl.edu 37 7 98638117 98638117 + Missense_Mutation SNP G G T TCGA-E9-A1RF-01A-11D-A159-09 TCGA-E9-A1RF-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43983619-d863-4816-a334-445f6ca36541 0c36d388-c63d-4ab1-8303-6d5005708525 7 98638117 98638117 G T SNP SMURF1 ENST00000361125 human ensembl 69_37n -1 known missense c.1512 p.H504Q 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,superfamily_HECT,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_WW_Rsp5_WWP,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP - no_errors SMURF1 HGNC ENSG00000198742 71 0 0.00 36 4 10.00 - - - SP140L 0 genome.wustl.edu 37 2 231266471 231266471 + Silent SNP G G T TCGA-E9-A1RF-01A-11D-A159-09 TCGA-E9-A1RF-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43983619-d863-4816-a334-445f6ca36541 0c36d388-c63d-4ab1-8303-6d5005708525 2 231266471 231266471 G T SNP SP140L ENST00000415673 human ensembl 69_37n +1 known silent c.1593 p.G531 0.031 pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain pfam_Sp100,pfam_SAND_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom,pfscan_Bromodomain - no_errors SP140L HGNC ENSG00000185404 92 0 0.00 27 10 27.03 - - - SPTSSA 0 genome.wustl.edu 37 14 34904481 34904481 + Missense_Mutation SNP C C T TCGA-E9-A1RF-01A-11D-A159-09 TCGA-E9-A1RF-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43983619-d863-4816-a334-445f6ca36541 0c36d388-c63d-4ab1-8303-6d5005708525 14 34904481 34904481 C T SNP SPTSSA ENST00000298130 human ensembl 69_37n -1 known missense c.142 p.A48T 1.000 pfam_Ser_palmitoyltrfase_ssu-like pfam_Ser_palmitoyltrfase_ssu-like - no_errors SPTSSA HGNC ENSG00000165389 180 0 0.00 74 19 20.43 - - - SRCAP 0 genome.wustl.edu 37 16 30745237 30745237 + Nonsense_Mutation SNP G G T TCGA-E9-A1RF-01A-11D-A159-09 TCGA-E9-A1RF-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43983619-d863-4816-a334-445f6ca36541 0c36d388-c63d-4ab1-8303-6d5005708525 16 30745237 30745237 G T SNP SRCAP ENST00000262518 human ensembl 69_37n +1 known nonsense c.6517 p.E2173* 1.000 pfscan_Helicase_C pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like - no_errors SRCAP HGNC ENSG00000080603 115 1 0.86 39 11 22.00 - - - STAM2 0 genome.wustl.edu 37 2 152977211 152977211 + Silent SNP C C T TCGA-E9-A1RF-01A-11D-A159-09 TCGA-E9-A1RF-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43983619-d863-4816-a334-445f6ca36541 0c36d388-c63d-4ab1-8303-6d5005708525 2 152977211 152977211 C T SNP STAM2 ENST00000263904 human ensembl 69_37n -1 known silent c.1455 p.V485 1.000 NULL pfam_VHS,pfam_SH3_domain,pfam_SH3_2,pfam_Ubiquitin-int_motif,superfamily_ENTH_VHS,superfamily_SH3_domain,smart_VHS_subgr,smart_Ubiquitin-int_motif,smart_SH3_domain,pfscan_SH3_domain,pfscan_Ubiquitin-int_motif,pfscan_VHS,prints_SH3_domain,prints_p67phox - no_errors STAM2 HGNC ENSG00000115145 137 0 0.00 42 8 16.00 - - - SUGP2 0 genome.wustl.edu 37 19 19112432 19112432 + Missense_Mutation SNP G G A TCGA-E9-A1RF-01A-11D-A159-09 TCGA-E9-A1RF-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43983619-d863-4816-a334-445f6ca36541 0c36d388-c63d-4ab1-8303-6d5005708525 19 19112432 19112432 G A SNP SUGP2 ENST00000337018 human ensembl 69_37n -1 known missense c.2981 p.S994F 0.996 NULL pfam_Surp,pfam_G_patch_dom,superfamily_Surp,smart_Surp,smart_G_patch_dom,pfscan_Surp,pfscan_G_patch_dom - no_errors SUGP2 HGNC ENSG00000064607 90 0 0.00 33 9 21.43 - - - TBX15 0 genome.wustl.edu 37 1 119467310 119467310 + Missense_Mutation SNP T T C TCGA-E9-A1RF-01A-11D-A159-09 TCGA-E9-A1RF-10A-01D-A159-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43983619-d863-4816-a334-445f6ca36541 0c36d388-c63d-4ab1-8303-6d5005708525 1 119467310 119467310 T C SNP TBX15 ENST00000369429 human ensembl 69_37n -1 known missense c.652 p.K218E 1.000 pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX15 HGNC ENSG00000092607 104 0 0.00 28 10 26.32 - - - TCP1 0 genome.wustl.edu 37 6 160200683 160200683 + Frame_Shift_Del DEL T T - TCGA-E9-A1RF-01A-11D-A159-09 TCGA-E9-A1RF-10A-01D-A159-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43983619-d863-4816-a334-445f6ca36541 0c36d388-c63d-4ab1-8303-6d5005708525 6 160200683 160200683 T - DEL TCP1 ENST00000321394 human ensembl 69_37n -1 known frame_shift_del c.1430 p.N477fs 1.000 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,tigrfam_Chap_CCT_alpha pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_alpha - no_errors TCP1 HGNC ENSG00000120438 83 0 0.00 32 8 20.00 - - - TLR3 0 genome.wustl.edu 37 4 187004105 187004105 + Missense_Mutation SNP T T C TCGA-E9-A1RF-01A-11D-A159-09 TCGA-E9-A1RF-10A-01D-A159-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43983619-d863-4816-a334-445f6ca36541 0c36d388-c63d-4ab1-8303-6d5005708525 4 187004105 187004105 T C SNP TLR3 ENST00000296795 human ensembl 69_37n +1 known missense c.1265 p.I422T 0.126 smart_Leu-rich_rpt_typical-subtyp pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR3 HGNC ENSG00000164342 90 0 0.00 15 5 25.00 - - - TMEM132D 0 genome.wustl.edu 37 12 129558828 129558828 + Missense_Mutation SNP C C A TCGA-E9-A1RF-01A-11D-A159-09 TCGA-E9-A1RF-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43983619-d863-4816-a334-445f6ca36541 0c36d388-c63d-4ab1-8303-6d5005708525 12 129558828 129558828 C A SNP TMEM132D ENST00000422113 human ensembl 69_37n -1 known missense c.2892 p.W964C 1.000 NULL NULL - no_errors TMEM132D HGNC ENSG00000151952 81 0 0.00 31 8 20.51 - - - TMEM186 0 genome.wustl.edu 37 16 8890208 8890208 + Silent SNP C C T TCGA-E9-A1RF-01A-11D-A159-09 TCGA-E9-A1RF-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43983619-d863-4816-a334-445f6ca36541 0c36d388-c63d-4ab1-8303-6d5005708525 16 8890208 8890208 C T SNP TMEM186 ENST00000333050 human ensembl 69_37n -1 known silent c.243 p.L81 0.965 NULL NULL - no_errors TMEM186 HGNC ENSG00000184857 112 0 0.00 26 8 23.53 - - - TMEM64 0 genome.wustl.edu 37 8 91638033 91638033 + Missense_Mutation SNP T T A TCGA-E9-A1RF-01A-11D-A159-09 TCGA-E9-A1RF-10A-01D-A159-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43983619-d863-4816-a334-445f6ca36541 0c36d388-c63d-4ab1-8303-6d5005708525 8 91638033 91638033 T A SNP TMEM64 ENST00000458549 human ensembl 69_37n -1 known missense c.1009 p.N337Y 1.000 NULL pfam_SNARE_assoc - no_errors TMEM64 HGNC ENSG00000180694 153 0 0.00 48 12 20.00 - - - TNFRSF25 0 genome.wustl.edu 37 1 6522132 6522132 + Missense_Mutation SNP G G T TCGA-E9-A1RF-01A-11D-A159-09 TCGA-E9-A1RF-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43983619-d863-4816-a334-445f6ca36541 0c36d388-c63d-4ab1-8303-6d5005708525 1 6522132 6522132 G T SNP TNFRSF25 ENST00000377782 human ensembl 69_37n -1 known missense c.874 p.P292T 0.000 NULL pfam_Death,superfamily_DEATH-like,smart_TNFR/NGFR_Cys_rich_reg,smart_Death,pfscan_Death,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_25 - no_errors TNFRSF25 HGNC ENSG00000215788 95 0 0.00 20 7 25.93 - - - TNS1 0 genome.wustl.edu 37 2 218745658 218745658 + Nonsense_Mutation SNP G G A TCGA-E9-A1RF-01A-11D-A159-09 TCGA-E9-A1RF-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43983619-d863-4816-a334-445f6ca36541 0c36d388-c63d-4ab1-8303-6d5005708525 2 218745658 218745658 G A SNP TNS1 ENST00000453356 human ensembl 69_37n -1 putative nonsense c.343 p.R115* 0.028 NULL pfam_Tensin_phosphatase_C2-dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,pfscan_Tensin_phosphatase_C2-dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region TNS1 HGNC ENSG00000079308 90 0 0.00 42 6 12.50 - - - TRPM3 0 genome.wustl.edu 37 9 73458041 73458041 + Missense_Mutation SNP C C A TCGA-E9-A1RF-01A-11D-A159-09 TCGA-E9-A1RF-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43983619-d863-4816-a334-445f6ca36541 0c36d388-c63d-4ab1-8303-6d5005708525 9 73458041 73458041 C A SNP TRPM3 ENST00000423814 human ensembl 69_37n -1 known missense c.685 p.V229F 1.000 NULL pfam_Ion_trans_dom - no_errors TRPM3 HGNC ENSG00000083067 69 0 0.00 20 5 20.00 - - - TTN 0 genome.wustl.edu 37 2 179438827 179438827 + Missense_Mutation SNP G G T TCGA-E9-A1RF-01A-11D-A159-09 TCGA-E9-A1RF-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43983619-d863-4816-a334-445f6ca36541 0c36d388-c63d-4ab1-8303-6d5005708525 2 179438827 179438827 G T SNP TTN ENST00000342992 human ensembl 69_37n -1 known missense c.64328 p.P21443Q 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_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_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 114 0 0.00 52 9 14.75 - - - UHRF1BP1L 0 genome.wustl.edu 37 12 100444935 100444935 + Missense_Mutation SNP G G C TCGA-E9-A1RF-01A-11D-A159-09 TCGA-E9-A1RF-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43983619-d863-4816-a334-445f6ca36541 0c36d388-c63d-4ab1-8303-6d5005708525 12 100444935 100444935 G C SNP UHRF1BP1L ENST00000279907 human ensembl 69_37n -1 known missense c.3489 p.N1163K 0.000 NULL NULL - no_errors UHRF1BP1L HGNC ENSG00000111647 201 0 0.00 85 19 18.27 - - - USP9X 0 genome.wustl.edu 37 X 41043849 41043849 + Missense_Mutation SNP C C G TCGA-E9-A1RF-01A-11D-A159-09 TCGA-E9-A1RF-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43983619-d863-4816-a334-445f6ca36541 0c36d388-c63d-4ab1-8303-6d5005708525 X 41043849 41043849 C G SNP USP9X ENST00000324545 human ensembl 69_37n +1 known missense c.3479 p.T1160S 1.000 NULL pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19 - no_errors USP9X HGNC ENSG00000124486 157 0 0.00 34 22 39.29 - - - VAX1 0 genome.wustl.edu 37 10 118891744 118891744 + Silent SNP C C G TCGA-E9-A1RF-01A-11D-A159-09 TCGA-E9-A1RF-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43983619-d863-4816-a334-445f6ca36541 0c36d388-c63d-4ab1-8303-6d5005708525 10 118891744 118891744 C G SNP VAX1 ENST00000277905 human ensembl 69_37n -1 known silent c.537 p.G179 0.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors VAX1 HGNC ENSG00000148704 66 0 0.00 27 7 20.59 - - - WDR24 0 genome.wustl.edu 37 16 735108 735109 + Frame_Shift_Ins INS - - A TCGA-E9-A1RF-01A-11D-A159-09 TCGA-E9-A1RF-10A-01D-A159-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43983619-d863-4816-a334-445f6ca36541 0c36d388-c63d-4ab1-8303-6d5005708525 16 735108 735109 - A INS WDR24 ENST00000248142 human ensembl 69_37n -1 known frame_shift_ins c.2478_2477 p.V827fs 1.000:1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR24 HGNC ENSG00000127580 24 0 0.00 16 4 20.00 - - - XPNPEP3 0 genome.wustl.edu 37 22 41253216 41253216 + Missense_Mutation SNP G G C TCGA-E9-A1RF-01A-11D-A159-09 TCGA-E9-A1RF-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43983619-d863-4816-a334-445f6ca36541 0c36d388-c63d-4ab1-8303-6d5005708525 22 41253216 41253216 G C SNP XPNPEP3 ENST00000357137 human ensembl 69_37n +1 known missense c.31 p.V11L 0.997 NULL pfam_Pept_M24_structural-domain,pfam_Aminopep_P_N,superfamily_Pept_M24_structural-domain - no_errors XPNPEP3 HGNC ENSG00000196236 60 0 0.00 21 5 19.23 - - - YSK4 0 genome.wustl.edu 37 2 135756375 135756375 + Missense_Mutation SNP G G T TCGA-E9-A1RF-01A-11D-A159-09 TCGA-E9-A1RF-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43983619-d863-4816-a334-445f6ca36541 0c36d388-c63d-4ab1-8303-6d5005708525 2 135756375 135756375 G T SNP YSK4 ENST00000375845 human ensembl 69_37n -1 known missense c.507 p.N169K 0.000 NULL pfam_Prot_kinase_cat_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_cat_dom - no_errors YSK4 HGNC ENSG00000176601 127 0 0.00 36 8 18.18 - - - ZNF354A 0 genome.wustl.edu 37 5 178154017 178154017 + Missense_Mutation SNP C C G TCGA-E9-A1RF-01A-11D-A159-09 TCGA-E9-A1RF-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43983619-d863-4816-a334-445f6ca36541 0c36d388-c63d-4ab1-8303-6d5005708525 5 178154017 178154017 C G SNP ZNF354A ENST00000335815 human ensembl 69_37n -1 known missense c.143 p.R48T 0.002 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF354A HGNC ENSG00000169131 195 0 0.00 94 16 14.55 - - - ZNF417 0 genome.wustl.edu 37 19 58420121 58420121 + Missense_Mutation SNP C C G TCGA-E9-A1RF-01A-11D-A159-09 TCGA-E9-A1RF-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43983619-d863-4816-a334-445f6ca36541 0c36d388-c63d-4ab1-8303-6d5005708525 19 58420121 58420121 C G SNP ZNF417 ENST00000312026 human ensembl 69_37n -1 known missense c.1525 p.V509L 0.000 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 ZNF417 HGNC ENSG00000173480 188 0 0.00 69 11 13.75 - - - ZNF606 0 genome.wustl.edu 37 19 58489955 58489955 + Missense_Mutation SNP T T G TCGA-E9-A1RF-01A-11D-A159-09 TCGA-E9-A1RF-10A-01D-A159-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43983619-d863-4816-a334-445f6ca36541 0c36d388-c63d-4ab1-8303-6d5005708525 19 58489955 58489955 T G SNP ZNF606 ENST00000341164 human ensembl 69_37n -1 known missense c.2093 p.H698P 1.000 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 ZNF606 HGNC ENSG00000166704 160 0 0.00 70 13 15.66 - - - ZSWIM6 0 genome.wustl.edu 37 5 60839621 60839621 + Missense_Mutation SNP A A T TCGA-E9-A1RF-01A-11D-A159-09 TCGA-E9-A1RF-10A-01D-A159-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 43983619-d863-4816-a334-445f6ca36541 0c36d388-c63d-4ab1-8303-6d5005708525 5 60839621 60839621 A T SNP ZSWIM6 ENST00000252744 human ensembl 69_37n +1 known missense c.3125 p.Y1042F 1.000 NULL pfscan_Znf_SWIM,prints_Antifreeze_1 - no_errors ZSWIM6 HGNC ENSG00000130449 37 0 0.00 15 4 21.05 - - -