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 ABCB1 0 genome.wustl.edu 37 7 87179586 87179586 + Silent SNP C C T TCGA-AO-A03N-01B-11D-A10M-09 TCGA-AO-A03N-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef5987f1-46ac-430a-b94a-49afa0e286d4 0af57ba4-305f-4d9d-b6fd-b242be5cd19a 7 87179586 87179586 C T SNP ABCB1 ENST00000265724 human ensembl 69_37n -1 known silent c.1251 p.V417 0.998 pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCB1 HGNC ENSG00000085563 98 0 0.00 183 45 19.74 - - - ADAMTS6 0 genome.wustl.edu 37 5 64511230 64511230 + Missense_Mutation SNP G G A TCGA-AO-A03N-01B-11D-A10M-09 TCGA-AO-A03N-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef5987f1-46ac-430a-b94a-49afa0e286d4 0af57ba4-305f-4d9d-b6fd-b242be5cd19a 5 64511230 64511230 G A SNP ADAMTS6 ENST00000381055 human ensembl 69_37n -1 known missense c.2357 p.A786V 1.000 pfam_ADAM_spacer1 pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B - no_errors ADAMTS6 HGNC ENSG00000049192 192 0 0.00 163 43 20.87 - - - ANAPC5 0 genome.wustl.edu 37 12 121757513 121757513 + Missense_Mutation SNP C C G TCGA-AO-A03N-01B-11D-A10M-09 TCGA-AO-A03N-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef5987f1-46ac-430a-b94a-49afa0e286d4 0af57ba4-305f-4d9d-b6fd-b242be5cd19a 12 121757513 121757513 C G SNP ANAPC5 ENST00000261819 human ensembl 69_37n -1 known missense c.1624 p.E542Q 1.000 smart_TPR_repeat smart_TPR_repeat - no_errors ANAPC5 HGNC ENSG00000089053 150 0 0.00 120 19 13.67 - - - APOBR 0 genome.wustl.edu 37 16 28507365 28507365 + Missense_Mutation SNP G G A TCGA-AO-A03N-01B-11D-A10M-09 TCGA-AO-A03N-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef5987f1-46ac-430a-b94a-49afa0e286d4 0af57ba4-305f-4d9d-b6fd-b242be5cd19a 16 28507365 28507365 G A SNP APOBR ENST00000564831 human ensembl 69_37n +1 known missense c.1003 p.E335K 0.130 NULL NULL - no_errors APOBR HGNC ENSG00000184730 8 0 0.00 26 10 27.78 - - - AR 0 genome.wustl.edu 37 X 66931346 66931346 + Nonsense_Mutation SNP C C G TCGA-AO-A03N-01B-11D-A10M-09 TCGA-AO-A03N-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef5987f1-46ac-430a-b94a-49afa0e286d4 0af57ba4-305f-4d9d-b6fd-b242be5cd19a X 66931346 66931346 C G SNP AR ENST00000374690 human ensembl 69_37n +1 known nonsense c.1988 p.S663* 1.000 NULL pfam_Andrgn_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Andrgn_rcpt,prints_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt - no_errors AR HGNC ENSG00000169083 67 0 0.00 131 25 16.03 - - - ASUN 0 genome.wustl.edu 37 12 27068941 27068941 + Missense_Mutation SNP C C G TCGA-AO-A03N-01B-11D-A10M-09 TCGA-AO-A03N-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef5987f1-46ac-430a-b94a-49afa0e286d4 0af57ba4-305f-4d9d-b6fd-b242be5cd19a 12 27068941 27068941 C G SNP ASUN ENST00000542392 human ensembl 69_37n -1 novel missense c.382 p.D128H 1.000 pfam_Cell_cycle_regulator_Mat89Bb pfam_Cell_cycle_regulator_Mat89Bb - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region ASUN HGNC ENSG00000064102 98 0 0.00 88 21 19.27 - - - BAI1 0 genome.wustl.edu 37 8 143602279 143602279 + Missense_Mutation SNP G G T TCGA-AO-A03N-01B-11D-A10M-09 TCGA-AO-A03N-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef5987f1-46ac-430a-b94a-49afa0e286d4 0af57ba4-305f-4d9d-b6fd-b242be5cd19a 8 143602279 143602279 G T SNP BAI1 ENST00000323289 human ensembl 69_37n +1 known missense c.3017 p.R1006L 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfam_Thrombospondin_1_rpt,pfam_DUF3497,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like - no_errors BAI1 HGNC ENSG00000181790 104 0 0.00 148 41 21.58 - - - BCKDK 0 genome.wustl.edu 37 16 31123564 31123564 + Missense_Mutation SNP G G T TCGA-AO-A03N-01B-11D-A10M-09 TCGA-AO-A03N-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef5987f1-46ac-430a-b94a-49afa0e286d4 0af57ba4-305f-4d9d-b6fd-b242be5cd19a 16 31123564 31123564 G T SNP BCKDK ENST00000219794 human ensembl 69_37n +1 known missense c.1217 p.R406L 1.000 NULL pfam_BCDHK/PDK_N,pfam_ATPase-like_ATP-bd,superfamily_BCDHK/PDK_N,superfamily_ATPase-like_ATP-bd,smart_ATPase-like_ATP-bd,pfscan_Sig_transdc_His_kinase_core,prints_Sig_transdc_His_kin-like_C - no_errors BCKDK HGNC ENSG00000103507 10 0 0.00 35 25 41.67 - - - BUB1B 0 genome.wustl.edu 37 15 40498522 40498522 + Silent SNP G G A TCGA-AO-A03N-01B-11D-A10M-09 TCGA-AO-A03N-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef5987f1-46ac-430a-b94a-49afa0e286d4 0af57ba4-305f-4d9d-b6fd-b242be5cd19a 15 40498522 40498522 G A SNP BUB1B ENST00000412359 human ensembl 69_37n +1 known silent c.1914 p.E638 0.912 NULL pfam_Mad3_BUB1_I,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Mad3_BUB1_I - no_errors BUB1B HGNC ENSG00000156970 81 0 0.00 77 24 23.76 - - - C17orf78 0 genome.wustl.edu 37 17 35736110 35736110 + Nonsense_Mutation SNP C C T TCGA-AO-A03N-01B-11D-A10M-09 TCGA-AO-A03N-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef5987f1-46ac-430a-b94a-49afa0e286d4 0af57ba4-305f-4d9d-b6fd-b242be5cd19a 17 35736110 35736110 C T SNP C17orf78 ENST00000300618 human ensembl 69_37n +1 known nonsense c.181 p.Q61* 0.059 NULL NULL - no_errors C17orf78 HGNC ENSG00000167230 161 0 0.00 96 40 29.41 - - - C1orf101 0 genome.wustl.edu 37 1 244681976 244681976 + Missense_Mutation SNP C C G TCGA-AO-A03N-01B-11D-A10M-09 TCGA-AO-A03N-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef5987f1-46ac-430a-b94a-49afa0e286d4 0af57ba4-305f-4d9d-b6fd-b242be5cd19a 1 244681976 244681976 C G SNP C1orf101 ENST00000366534 human ensembl 69_37n +1 known missense c.512 p.S171C 0.000 NULL NULL - no_errors C1orf101 HGNC ENSG00000179397 68 0 0.00 64 8 11.11 - - - C6orf58 0 genome.wustl.edu 37 6 127898402 127898402 + Missense_Mutation SNP T T A TCGA-AO-A03N-01B-11D-A10M-09 TCGA-AO-A03N-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef5987f1-46ac-430a-b94a-49afa0e286d4 0af57ba4-305f-4d9d-b6fd-b242be5cd19a 6 127898402 127898402 T A SNP C6orf58 ENST00000329722 human ensembl 69_37n +1 known missense c.72 p.N24K 0.000 pfam_DUF781 pfam_DUF781 - no_errors C6orf58 HGNC ENSG00000184530 104 0 0.00 79 23 22.55 - - - C7 0 genome.wustl.edu 37 5 40959673 40959673 + Missense_Mutation SNP G G A TCGA-AO-A03N-01B-11D-A10M-09 TCGA-AO-A03N-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef5987f1-46ac-430a-b94a-49afa0e286d4 0af57ba4-305f-4d9d-b6fd-b242be5cd19a 5 40959673 40959673 G A SNP C7 ENST00000313164 human ensembl 69_37n +1 known missense c.1612 p.E538K 0.997 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_MACPF,pfam_Sushi_SCR_CCP,pfam_LDrepeatLR_classA_rpt,pfam_Thrombospondin_1_rpt,superfamily_Complement_control_module,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,smart_Sushi_SCR_CCP,smart_FacI_MAC,pfscan_LDrepeatLR_classA_rpt,pfscan_Sushi_SCR_CCP,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin - no_errors C7 HGNC ENSG00000112936 79 0 0.00 98 28 22.22 - - - CACNA1I 0 genome.wustl.edu 37 22 40075816 40075816 + Silent SNP C C A TCGA-AO-A03N-01B-11D-A10M-09 TCGA-AO-A03N-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef5987f1-46ac-430a-b94a-49afa0e286d4 0af57ba4-305f-4d9d-b6fd-b242be5cd19a 22 40075816 40075816 C A SNP CACNA1I ENST00000336649 human ensembl 69_37n +1 known silent c.5502 p.I1834 1.000 NULL pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1 - no_errors CACNA1I HGNC ENSG00000100346 25 0 0.00 42 9 17.65 - - - CADM2 0 genome.wustl.edu 37 3 86114834 86114834 + Silent SNP G G A TCGA-AO-A03N-01B-11D-A10M-09 TCGA-AO-A03N-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef5987f1-46ac-430a-b94a-49afa0e286d4 0af57ba4-305f-4d9d-b6fd-b242be5cd19a 3 86114834 86114834 G A SNP CADM2 ENST00000405615 human ensembl 69_37n +1 known silent c.1149 p.T383 0.793 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_C1-set,smart_Ig_sub,smart_Ig_sub2,smart_Neurexin-like,pfscan_Ig-like - no_errors CADM2 HGNC ENSG00000175161 368 0 0.00 240 213 47.02 - - - CBLB 0 genome.wustl.edu 37 3 105586395 105586395 + Missense_Mutation SNP G G T TCGA-AO-A03N-01B-11D-A10M-09 TCGA-AO-A03N-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef5987f1-46ac-430a-b94a-49afa0e286d4 0af57ba4-305f-4d9d-b6fd-b242be5cd19a 3 105586395 105586395 G T SNP CBLB ENST00000264122 human ensembl 69_37n -1 known missense c.27 p.N9K 1.000 NULL pfam_Adaptor_Cbl_N_hlx,pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Znf_C3HC4_RING-type,pfam_UBA/transl_elong_EF1B_N,superfamily_Adaptor_Cbl_N_hlx,superfamily_UBA-like,smart_Znf_RING,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_RING - no_errors CBLB HGNC ENSG00000114423 97 0 0.00 72 19 20.88 - - - CNTNAP5 0 genome.wustl.edu 37 2 125547707 125547707 + Missense_Mutation SNP T T G TCGA-AO-A03N-01B-11D-A10M-09 TCGA-AO-A03N-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef5987f1-46ac-430a-b94a-49afa0e286d4 0af57ba4-305f-4d9d-b6fd-b242be5cd19a 2 125547707 125547707 T G SNP CNTNAP5 ENST00000431078 human ensembl 69_37n +1 known missense c.2978 p.F993C 0.998 superfamily_ConA-like_lec_gl,smart_EGF-like,pfscan_EG-like_dom pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EGF-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP5 HGNC ENSG00000155052 42 0 0.00 52 26 33.33 - - - CP 0 genome.wustl.edu 37 3 148894046 148894046 + Missense_Mutation SNP G G T TCGA-AO-A03N-01B-11D-A10M-09 TCGA-AO-A03N-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef5987f1-46ac-430a-b94a-49afa0e286d4 0af57ba4-305f-4d9d-b6fd-b242be5cd19a 3 148894046 148894046 G T SNP CP ENST00000264613 human ensembl 69_37n -1 known missense c.3172 p.Q1058K 0.070 superfamily_Cupredoxin pfam_Cu-oxidase_2,pfam_Cu-oxidase_3,pfam_Cu-oxidase,superfamily_Cupredoxin - no_errors CP HGNC ENSG00000047457 195 0 0.00 139 43 23.63 - - - CYP7B1 0 genome.wustl.edu 37 8 65527712 65527712 + Missense_Mutation SNP G G A TCGA-AO-A03N-01B-11D-A10M-09 TCGA-AO-A03N-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef5987f1-46ac-430a-b94a-49afa0e286d4 0af57ba4-305f-4d9d-b6fd-b242be5cd19a 8 65527712 65527712 G A SNP CYP7B1 ENST00000310193 human ensembl 69_37n -1 known missense c.928 p.R310W 1.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450 - no_errors CYP7B1 HGNC ENSG00000172817 149 0 0.00 132 35 20.96 - - - DCST1 0 genome.wustl.edu 37 1 155018896 155018896 + Missense_Mutation SNP G G C TCGA-AO-A03N-01B-11D-A10M-09 TCGA-AO-A03N-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef5987f1-46ac-430a-b94a-49afa0e286d4 0af57ba4-305f-4d9d-b6fd-b242be5cd19a 1 155018896 155018896 G C SNP DCST1 ENST00000295542 human ensembl 69_37n +1 known missense c.1429 p.D477H 0.999 pfam_DC_STAMP-like pfam_DC_STAMP-like,pfscan_Znf_RING - no_errors DCST1 HGNC ENSG00000163357 68 0 0.00 207 43 17.20 - - - DLC1 0 genome.wustl.edu 37 8 13072274 13072274 + Nonsense_Mutation SNP G G T TCGA-AO-A03N-01B-11D-A10M-09 TCGA-AO-A03N-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef5987f1-46ac-430a-b94a-49afa0e286d4 0af57ba4-305f-4d9d-b6fd-b242be5cd19a 8 13072274 13072274 G T SNP DLC1 ENST00000316609 human ensembl 69_37n -1 known nonsense c.1358 p.S453* 0.015 NULL NULL - no_errors DLC1 HGNC ENSG00000164741 313 0 0.00 124 48 27.91 - - - DOPEY1 0 genome.wustl.edu 37 6 83830462 83830462 + Missense_Mutation SNP C C G TCGA-AO-A03N-01B-11D-A10M-09 TCGA-AO-A03N-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef5987f1-46ac-430a-b94a-49afa0e286d4 0af57ba4-305f-4d9d-b6fd-b242be5cd19a 6 83830462 83830462 C G SNP DOPEY1 ENST00000349129 human ensembl 69_37n +1 known missense c.1051 p.L351V 1.000 superfamily_ARM-type_fold pfam_Dopey_N,superfamily_ARM-type_fold - no_errors DOPEY1 HGNC ENSG00000083097 273 0 0.00 173 48 21.72 - - - ECE1 0 genome.wustl.edu 37 1 21599264 21599264 + Missense_Mutation SNP C C T TCGA-AO-A03N-01B-11D-A10M-09 TCGA-AO-A03N-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef5987f1-46ac-430a-b94a-49afa0e286d4 0af57ba4-305f-4d9d-b6fd-b242be5cd19a 1 21599264 21599264 C T SNP ECE1 ENST00000374893 human ensembl 69_37n -1 known missense c.421 p.D141N 1.000 pfam_Peptidase_M13_N pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors ECE1 HGNC ENSG00000117298 159 0 0.00 148 84 36.21 - - - ETS1 0 genome.wustl.edu 37 11 128332356 128332356 + Missense_Mutation SNP C C T TCGA-AO-A03N-01B-11D-A10M-09 TCGA-AO-A03N-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef5987f1-46ac-430a-b94a-49afa0e286d4 0af57ba4-305f-4d9d-b6fd-b242be5cd19a 11 128332356 128332356 C T SNP ETS1 ENST00000392668 human ensembl 69_37n -1 known missense c.1358 p.R453H 1.000 pfam_Ets,smart_Ets,pirsf_Transforming_factor_C-ets,pfscan_Ets,prints_Ets pfam_Ets,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets,pirsf_Transforming_factor_C-ets,pfscan_Ets,prints_Ets - no_errors ETS1 HGNC ENSG00000134954 146 0 0.00 209 51 19.62 - - - EVX2 0 genome.wustl.edu 37 2 176948445 176948445 + Silent SNP C C T TCGA-AO-A03N-01B-11D-A10M-09 TCGA-AO-A03N-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef5987f1-46ac-430a-b94a-49afa0e286d4 0af57ba4-305f-4d9d-b6fd-b242be5cd19a 2 176948445 176948445 C T SNP EVX2 ENST00000308618 human ensembl 69_37n -1 known silent c.60 p.T20 0.830 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Antifreeze_1,prints_Homeobox_metazoa - no_errors EVX2 HGNC ENSG00000174279 78 0 0.00 66 45 40.54 - - - FKBP11 0 genome.wustl.edu 37 12 49315850 49315850 + Missense_Mutation SNP G G A TCGA-AO-A03N-01B-11D-A10M-09 TCGA-AO-A03N-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef5987f1-46ac-430a-b94a-49afa0e286d4 0af57ba4-305f-4d9d-b6fd-b242be5cd19a 12 49315850 49315850 G A SNP FKBP11 ENST00000550765 human ensembl 69_37n -1 known missense c.523 p.H175Y 1.000 NULL pfam_PPIase_FKBP_dom,pfscan_PPIase_FKBP_dom - no_errors FKBP11 HGNC ENSG00000134285 232 0 0.00 325 53 14.02 - - - FYCO1 0 genome.wustl.edu 37 3 46007805 46007805 + Silent SNP C C G TCGA-AO-A03N-01B-11D-A10M-09 TCGA-AO-A03N-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef5987f1-46ac-430a-b94a-49afa0e286d4 0af57ba4-305f-4d9d-b6fd-b242be5cd19a 3 46007805 46007805 C G SNP FYCO1 ENST00000535325 human ensembl 69_37n -1 known silent c.3021 p.L1007 1.000 superfamily_tRNA-bd_arm pfam_Znf_FYVE,pfam_Run,superfamily_GOLD,superfamily_Znf_FYVE_PHD,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Znf_FYVE,pfscan_GOLD,pfscan_Run,pfscan_Znf_FYVE-rel - no_errors FYCO1 HGNC ENSG00000163820 92 0 0.00 83 22 20.95 - - - GAB2 0 genome.wustl.edu 37 11 77930333 77930333 + Missense_Mutation SNP C C G TCGA-AO-A03N-01B-11D-A10M-09 TCGA-AO-A03N-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef5987f1-46ac-430a-b94a-49afa0e286d4 0af57ba4-305f-4d9d-b6fd-b242be5cd19a 11 77930333 77930333 C G SNP GAB2 ENST00000361507 human ensembl 69_37n -1 known missense c.2016 p.K672N 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors GAB2 HGNC ENSG00000033327 40 0 0.00 50 38 43.18 - - - GALT 0 genome.wustl.edu 37 9 34648780 34648780 + Missense_Mutation SNP G G C TCGA-AO-A03N-01B-11D-A10M-09 TCGA-AO-A03N-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef5987f1-46ac-430a-b94a-49afa0e286d4 0af57ba4-305f-4d9d-b6fd-b242be5cd19a 9 34648780 34648780 G C SNP GALT ENST00000378842 human ensembl 69_37n +1 known missense c.709 p.E237Q 1.000 pfam_GalP_Utransf_C,superfamily_HIT-like,pirsf_GalP_UDPtransf1,tigrfam_GalP_UDPtransf1 pfam_GalP_Utransf_N,pfam_GalP_Utransf_C,superfamily_HIT-like,pirsf_GalP_UDPtransf1,tigrfam_GalP_UDPtransf1 - no_errors GALT HGNC ENSG00000213930 40 0 0.00 33 17 34.00 - - - GGCT 0 genome.wustl.edu 37 7 30538452 30538452 + Nonsense_Mutation SNP G G C TCGA-AO-A03N-01B-11D-A10M-09 TCGA-AO-A03N-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef5987f1-46ac-430a-b94a-49afa0e286d4 0af57ba4-305f-4d9d-b6fd-b242be5cd19a 7 30538452 30538452 G C SNP GGCT ENST00000275428 human ensembl 69_37n -1 known nonsense c.390 p.Y130* 0.657 NULL pfam_AIG2-like - no_errors GGCT HGNC ENSG00000006625 466 0 0.00 387 106 21.46 - - - GPR119 0 genome.wustl.edu 37 X 129518882 129518882 + Silent SNP G G C TCGA-AO-A03N-01B-11D-A10M-09 TCGA-AO-A03N-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef5987f1-46ac-430a-b94a-49afa0e286d4 0af57ba4-305f-4d9d-b6fd-b242be5cd19a X 129518882 129518882 G C SNP GPR119 ENST00000276218 human ensembl 69_37n -1 known silent c.540 p.L180 0.998 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn - no_errors GPR119 HGNC ENSG00000147262 39 0 0.00 55 10 15.38 - - - GPR155 0 genome.wustl.edu 37 2 175311476 175311476 + Splice_Site SNP C C T TCGA-AO-A03N-01B-11D-A10M-09 TCGA-AO-A03N-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef5987f1-46ac-430a-b94a-49afa0e286d4 0af57ba4-305f-4d9d-b6fd-b242be5cd19a 2 175311476 175311476 C T SNP GPR155 ENST00000295500 human ensembl 69_37n -1 known splice_site c.1877-1 e11-1 1.000 - - - no_errors GPR155 HGNC ENSG00000163328 142 0 0.00 138 20 12.66 - - - GSTO1 0 genome.wustl.edu 37 10 106014943 106014943 + Silent SNP C C T TCGA-AO-A03N-01B-11D-A10M-09 TCGA-AO-A03N-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef5987f1-46ac-430a-b94a-49afa0e286d4 0af57ba4-305f-4d9d-b6fd-b242be5cd19a 10 106014943 106014943 C T SNP GSTO1 ENST00000369713 human ensembl 69_37n +1 known silent c.57 p.V19 1.000 superfamily_Thioredoxin-like_fold pfam_GST_C,pfam_Glutathione_S-Trfase_N,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_GST_omega - no_errors GSTO1 HGNC ENSG00000148834 15 0 0.00 9 10 52.63 - - - HIVEP1 0 genome.wustl.edu 37 6 12164532 12164532 + Silent SNP G G A TCGA-AO-A03N-01B-11D-A10M-09 TCGA-AO-A03N-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef5987f1-46ac-430a-b94a-49afa0e286d4 0af57ba4-305f-4d9d-b6fd-b242be5cd19a 6 12164532 12164532 G A SNP HIVEP1 ENST00000379388 human ensembl 69_37n +1 known silent c.7995 p.L2665 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP1 HGNC ENSG00000095951 42 0 0.00 47 7 12.96 - - - HNRNPKP3 0 genome.wustl.edu 37 11 43283606 43283606 + RNA DEL A A - TCGA-AO-A03N-01B-11D-A10M-09 TCGA-AO-A03N-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef5987f1-46ac-430a-b94a-49afa0e286d4 0af57ba4-305f-4d9d-b6fd-b242be5cd19a 11 43283606 43283606 A - DEL HNRNPKP3 ENST00000511537 human ensembl 69_37n -1 known rna NULL NULL 0.986 - - - no_errors HNRNPKP3 HGNC ENSG00000251557 20 0 0.00 14 3 17.65 - - - HRNR 0 genome.wustl.edu 37 1 152191378 152191378 + Missense_Mutation SNP A A C TCGA-AO-A03N-01B-11D-A10M-09 TCGA-AO-A03N-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef5987f1-46ac-430a-b94a-49afa0e286d4 0af57ba4-305f-4d9d-b6fd-b242be5cd19a 1 152191378 152191378 A C SNP HRNR ENST00000368801 human ensembl 69_37n -1 known missense c.2727 p.H909Q 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2 - no_errors HRNR HGNC ENSG00000197915 74 0 0.00 102 104 50.49 - - - IFT140 0 genome.wustl.edu 37 16 1608111 1608111 + Missense_Mutation SNP C C T TCGA-AO-A03N-01B-11D-A10M-09 TCGA-AO-A03N-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef5987f1-46ac-430a-b94a-49afa0e286d4 0af57ba4-305f-4d9d-b6fd-b242be5cd19a 16 1608111 1608111 C T SNP IFT140 ENST00000426508 human ensembl 69_37n -1 known missense c.2224 p.E742K 0.003 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors IFT140 HGNC ENSG00000187535 91 0 0.00 231 39 14.44 - - - IMPG1 0 genome.wustl.edu 37 6 76744474 76744474 + Missense_Mutation SNP C C T TCGA-AO-A03N-01B-11D-A10M-09 TCGA-AO-A03N-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef5987f1-46ac-430a-b94a-49afa0e286d4 0af57ba4-305f-4d9d-b6fd-b242be5cd19a 6 76744474 76744474 C T SNP IMPG1 ENST00000369950 human ensembl 69_37n -1 known missense c.332 p.R111Q 1.000 NULL pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA - no_errors IMPG1 HGNC ENSG00000112706 40 0 0.00 47 13 21.67 - - - IQCA1 0 genome.wustl.edu 37 2 237233390 237233390 + Missense_Mutation SNP C C A TCGA-AO-A03N-01B-11D-A10M-09 TCGA-AO-A03N-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef5987f1-46ac-430a-b94a-49afa0e286d4 0af57ba4-305f-4d9d-b6fd-b242be5cd19a 2 237233390 237233390 C A SNP IQCA1 ENST00000409907 human ensembl 69_37n -1 known missense c.2410 p.A804S 0.870 NULL pfam_ATPase_AAA_core,pfscan_IQ_motif_EF-hand-BS - no_errors IQCA1 HGNC ENSG00000132321 296 0 0.00 314 78 19.90 - - - ITPRIPL2 0 genome.wustl.edu 37 16 19126677 19126677 + Silent SNP C C T TCGA-AO-A03N-01B-11D-A10M-09 TCGA-AO-A03N-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef5987f1-46ac-430a-b94a-49afa0e286d4 0af57ba4-305f-4d9d-b6fd-b242be5cd19a 16 19126677 19126677 C T SNP ITPRIPL2 ENST00000381440 human ensembl 69_37n +1 known silent c.894 p.Y298 1.000 NULL NULL - no_errors ITPRIPL2 HGNC ENSG00000205730 9 0 0.00 45 8 15.09 - - - KIF14 0 genome.wustl.edu 37 1 200584610 200584610 + Missense_Mutation SNP G G T TCGA-AO-A03N-01B-11D-A10M-09 TCGA-AO-A03N-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef5987f1-46ac-430a-b94a-49afa0e286d4 0af57ba4-305f-4d9d-b6fd-b242be5cd19a 1 200584610 200584610 G T SNP KIF14 ENST00000367350 human ensembl 69_37n -1 known missense c.1240 p.H414N 0.988 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF14 HGNC ENSG00000118193 159 0 0.00 179 68 27.53 - - - KIF26B 0 genome.wustl.edu 37 1 245861453 245861453 + Missense_Mutation SNP C C T TCGA-AO-A03N-01B-11D-A10M-09 TCGA-AO-A03N-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef5987f1-46ac-430a-b94a-49afa0e286d4 0af57ba4-305f-4d9d-b6fd-b242be5cd19a 1 245861453 245861453 C T SNP KIF26B ENST00000407071 human ensembl 69_37n +1 known missense c.5870 p.S1957F 1.000 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF26B HGNC ENSG00000162849 83 0 0.00 166 30 15.31 - - - KIF3B 0 genome.wustl.edu 37 20 30898419 30898419 + Missense_Mutation SNP C C T TCGA-AO-A03N-01B-11D-A10M-09 TCGA-AO-A03N-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef5987f1-46ac-430a-b94a-49afa0e286d4 0af57ba4-305f-4d9d-b6fd-b242be5cd19a 20 30898419 30898419 C T SNP KIF3B ENST00000375712 human ensembl 69_37n +1 known missense c.839 p.S280F 1.000 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF3B HGNC ENSG00000101350 82 0 0.00 122 21 14.69 - - - KL 0 genome.wustl.edu 37 13 33638277 33638277 + Missense_Mutation SNP C C G TCGA-AO-A03N-01B-11D-A10M-09 TCGA-AO-A03N-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef5987f1-46ac-430a-b94a-49afa0e286d4 0af57ba4-305f-4d9d-b6fd-b242be5cd19a 13 33638277 33638277 C G SNP KL ENST00000380099 human ensembl 69_37n +1 known missense c.2993 p.S998C 0.994 NULL pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 - no_errors KL HGNC ENSG00000133116 148 0 0.00 57 25 30.49 - - - KRT25 0 genome.wustl.edu 37 17 38907420 38907420 + Silent SNP C C T TCGA-AO-A03N-01B-11D-A10M-09 TCGA-AO-A03N-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef5987f1-46ac-430a-b94a-49afa0e286d4 0af57ba4-305f-4d9d-b6fd-b242be5cd19a 17 38907420 38907420 C T SNP KRT25 ENST00000312150 human ensembl 69_37n -1 known silent c.828 p.E276 0.020 pfam_F pfam_F,prints_Keratin_I - no_errors KRT25 HGNC ENSG00000204897 56 0 0.00 75 29 27.88 - - - L3MBTL3 0 genome.wustl.edu 37 6 130392142 130392142 + Nonsense_Mutation SNP C C T TCGA-AO-A03N-01B-11D-A10M-09 TCGA-AO-A03N-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef5987f1-46ac-430a-b94a-49afa0e286d4 0af57ba4-305f-4d9d-b6fd-b242be5cd19a 6 130392142 130392142 C T SNP L3MBTL3 ENST00000361794 human ensembl 69_37n +1 known nonsense c.1114 p.R372* 1.000 smart_Mbt,pfscan_Mbt pfam_Mbt,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt,pfscan_SAM - no_errors L3MBTL3 HGNC ENSG00000198945 232 0 0.00 211 31 12.81 - - - LAMB1 0 genome.wustl.edu 37 7 107626640 107626640 + Missense_Mutation SNP C C T TCGA-AO-A03N-01B-11D-A10M-09 TCGA-AO-A03N-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef5987f1-46ac-430a-b94a-49afa0e286d4 0af57ba4-305f-4d9d-b6fd-b242be5cd19a 7 107626640 107626640 C T SNP LAMB1 ENST00000222399 human ensembl 69_37n -1 known missense c.592 p.E198K 1.000 pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N pfam_EGF_laminin,pfam_Laminin_N,superfamily_Prefoldin,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB1 HGNC ENSG00000091136 211 0 0.00 205 39 15.98 - - - LIMD1 0 genome.wustl.edu 37 3 45636504 45636504 + Missense_Mutation SNP C C T TCGA-AO-A03N-01B-11D-A10M-09 TCGA-AO-A03N-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef5987f1-46ac-430a-b94a-49afa0e286d4 0af57ba4-305f-4d9d-b6fd-b242be5cd19a 3 45636504 45636504 C T SNP LIMD1 ENST00000273317 human ensembl 69_37n +1 known missense c.133 p.R45C 0.978 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LIMD1 HGNC ENSG00000144791 18 0 0.00 18 14 43.75 - - - LINC00521 0 genome.wustl.edu 37 14 94466008 94466008 + RNA SNP G G C TCGA-AO-A03N-01B-11D-A10M-09 TCGA-AO-A03N-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef5987f1-46ac-430a-b94a-49afa0e286d4 0af57ba4-305f-4d9d-b6fd-b242be5cd19a 14 94466008 94466008 G C SNP LINC00521 ENST00000314629 human ensembl 69_37n +1 known rna NULL NULL 0.500 - - - no_errors LINC00521 HGNC ENSG00000175699 78 0 0.00 96 32 25.00 - - - LLGL2 0 genome.wustl.edu 37 17 73564696 73564696 + Silent SNP C C T TCGA-AO-A03N-01B-11D-A10M-09 TCGA-AO-A03N-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef5987f1-46ac-430a-b94a-49afa0e286d4 0af57ba4-305f-4d9d-b6fd-b242be5cd19a 17 73564696 73564696 C T SNP LLGL2 ENST00000392550 human ensembl 69_37n +1 known silent c.1176 p.H392 0.975 superfamily_WD40_repeat_dom pfam_LLGL2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,prints_Lethal2_giant - no_errors LLGL2 HGNC ENSG00000073350 25 0 0.00 35 16 31.37 - - - LPAR1 0 genome.wustl.edu 37 9 113637855 113637855 + Missense_Mutation SNP C C T TCGA-AO-A03N-01B-11D-A10M-09 TCGA-AO-A03N-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef5987f1-46ac-430a-b94a-49afa0e286d4 0af57ba4-305f-4d9d-b6fd-b242be5cd19a 9 113637855 113637855 C T SNP LPAR1 ENST00000538760 human ensembl 69_37n -1 known missense c.944 p.R315H 1.000 prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_LPA_rcpt_EDG2,prints_LPA_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors LPAR1 HGNC ENSG00000198121 99 0 0.00 195 50 20.41 - - - LRRC32 0 genome.wustl.edu 37 11 76372514 76372514 + Silent SNP G G C TCGA-AO-A03N-01B-11D-A10M-09 TCGA-AO-A03N-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef5987f1-46ac-430a-b94a-49afa0e286d4 0af57ba4-305f-4d9d-b6fd-b242be5cd19a 11 76372514 76372514 G C SNP LRRC32 ENST00000260061 human ensembl 69_37n -1 known silent c.123 p.L41 0.000 pfam_LRR-contain_N,smart_LRR-contain_N pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC32 HGNC ENSG00000137507 21 0 0.00 54 13 19.40 - - - LYST 0 genome.wustl.edu 37 1 235969927 235969927 + Missense_Mutation SNP G G A TCGA-AO-A03N-01B-11D-A10M-09 TCGA-AO-A03N-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef5987f1-46ac-430a-b94a-49afa0e286d4 0af57ba4-305f-4d9d-b6fd-b242be5cd19a 1 235969927 235969927 G A SNP LYST ENST00000389793 human ensembl 69_37n -1 known missense c.2509 p.P837S 0.900 superfamily_ARM-type_fold pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors LYST HGNC ENSG00000143669 220 0 0.00 207 98 32.13 - - - MAP2 0 genome.wustl.edu 37 2 210560177 210560177 + Missense_Mutation SNP G G C TCGA-AO-A03N-01B-11D-A10M-09 TCGA-AO-A03N-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef5987f1-46ac-430a-b94a-49afa0e286d4 0af57ba4-305f-4d9d-b6fd-b242be5cd19a 2 210560177 210560177 G C SNP MAP2 ENST00000360351 human ensembl 69_37n +1 known missense c.3283 p.E1095Q 0.948 pfam_MAP2_projctn pfam_MAP2_projctn,pfam_Tau/MAP_tubulin-bd_rpt - no_errors MAP2 HGNC ENSG00000078018 73 0 0.00 84 33 28.21 - - - MAP3K4 0 genome.wustl.edu 37 6 161507647 161507647 + Nonsense_Mutation SNP C C G TCGA-AO-A03N-01B-11D-A10M-09 TCGA-AO-A03N-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef5987f1-46ac-430a-b94a-49afa0e286d4 0af57ba4-305f-4d9d-b6fd-b242be5cd19a 6 161507647 161507647 C G SNP MAP3K4 ENST00000392142 human ensembl 69_37n +1 known nonsense c.2504 p.S835* 0.134 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 MAP3K4 HGNC ENSG00000085511 159 0 0.00 122 30 19.74 - - - MAPK14 0 genome.wustl.edu 37 6 36040654 36040654 + Silent SNP C C T TCGA-AO-A03N-01B-11D-A10M-09 TCGA-AO-A03N-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef5987f1-46ac-430a-b94a-49afa0e286d4 0af57ba4-305f-4d9d-b6fd-b242be5cd19a 6 36040654 36040654 C T SNP MAPK14 ENST00000229794 human ensembl 69_37n +1 known silent c.310 p.L104 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_MAPK_p38 - no_errors MAPK14 HGNC ENSG00000112062 234 0 0.00 229 49 17.63 - - - MEGF11 0 genome.wustl.edu 37 15 66206079 66206079 + Silent SNP G G A TCGA-AO-A03N-01B-11D-A10M-09 TCGA-AO-A03N-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef5987f1-46ac-430a-b94a-49afa0e286d4 0af57ba4-305f-4d9d-b6fd-b242be5cd19a 15 66206079 66206079 G A SNP MEGF11 ENST00000409699 human ensembl 69_37n -1 known silent c.2706 p.L902 0.987 NULL pfam_EGF_laminin,pfam_EGF_extracell,smart_EGF-like,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_EMI_domain - no_errors MEGF11 HGNC ENSG00000157890 25 0 0.00 68 18 20.93 - - - MS4A14 0 genome.wustl.edu 37 11 60183854 60183854 + Missense_Mutation SNP G G C TCGA-AO-A03N-01B-11D-A10M-09 TCGA-AO-A03N-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef5987f1-46ac-430a-b94a-49afa0e286d4 0af57ba4-305f-4d9d-b6fd-b242be5cd19a 11 60183854 60183854 G C SNP MS4A14 ENST00000300187 human ensembl 69_37n +1 known missense c.1413 p.W471C 0.992 NULL pfam_CD20-like - no_errors MS4A14 HGNC ENSG00000166928 84 0 0.00 58 20 25.64 - - - MTHFD1L 0 genome.wustl.edu 37 6 151281482 151281482 + Missense_Mutation SNP G G A TCGA-AO-A03N-01B-11D-A10M-09 TCGA-AO-A03N-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef5987f1-46ac-430a-b94a-49afa0e286d4 0af57ba4-305f-4d9d-b6fd-b242be5cd19a 6 151281482 151281482 G A SNP MTHFD1L ENST00000367321 human ensembl 69_37n +1 known missense c.1875 p.M625I 1.000 pfam_Formate_THF_ligase pfam_Formate_THF_ligase,pfam_THF_DH/CycHdrlase_NAD-bd_dom,pfam_THF_DH/CycHdrlase_cat_dom,prints_THF_DH/CycHdrlase - no_errors MTHFD1L HGNC ENSG00000120254 14 0 0.00 70 13 15.66 - - - MUC5B 0 genome.wustl.edu 37 11 1268931 1268931 + Silent SNP A A C TCGA-AO-A03N-01B-11D-A10M-09 TCGA-AO-A03N-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef5987f1-46ac-430a-b94a-49afa0e286d4 0af57ba4-305f-4d9d-b6fd-b242be5cd19a 11 1268931 1268931 A C SNP MUC5B ENST00000447027 human ensembl 69_37n +1 known silent c.10830 p.A3610 0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 30 0 0.00 51 16 23.88 - - - MYLK3 0 genome.wustl.edu 37 16 46771693 46771693 + Missense_Mutation SNP G G C TCGA-AO-A03N-01B-11D-A10M-09 TCGA-AO-A03N-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef5987f1-46ac-430a-b94a-49afa0e286d4 0af57ba4-305f-4d9d-b6fd-b242be5cd19a 16 46771693 46771693 G C SNP MYLK3 ENST00000394809 human ensembl 69_37n -1 known missense c.931 p.Q311E 0.006 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 MYLK3 HGNC ENSG00000140795 13 0 0.00 60 10 14.29 - - - NOC4L 0 genome.wustl.edu 37 12 132636742 132636742 + Missense_Mutation SNP G G T TCGA-AO-A03N-01B-11D-A10M-09 TCGA-AO-A03N-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef5987f1-46ac-430a-b94a-49afa0e286d4 0af57ba4-305f-4d9d-b6fd-b242be5cd19a 12 132636742 132636742 G T SNP NOC4L ENST00000330579 human ensembl 69_37n +1 known missense c.1431 p.E477D 1.000 NULL pfam_CCAAT-binding_factor,superfamily_ARM-type_fold - no_errors NOC4L HGNC ENSG00000184967 15 0 0.00 37 13 26.00 - - - NOTCH2 0 genome.wustl.edu 37 1 120484236 120484236 + Missense_Mutation SNP G G C TCGA-AO-A03N-01B-11D-A10M-09 TCGA-AO-A03N-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef5987f1-46ac-430a-b94a-49afa0e286d4 0af57ba4-305f-4d9d-b6fd-b242be5cd19a 1 120484236 120484236 G C SNP NOTCH2 ENST00000256646 human ensembl 69_37n -1 known missense c.2894 p.S965C 0.997 pirsf_Notch,pfam_EGF-like_dom,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom pirsf_Notch,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,pfam_EGF_extracell,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_2,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH2 HGNC ENSG00000134250 70 0 0.00 105 24 18.60 - - - NSMCE2 0 genome.wustl.edu 37 8 126194375 126194375 + Missense_Mutation SNP G G C TCGA-AO-A03N-01B-11D-A10M-09 TCGA-AO-A03N-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef5987f1-46ac-430a-b94a-49afa0e286d4 0af57ba4-305f-4d9d-b6fd-b242be5cd19a 8 126194375 126194375 G C SNP NSMCE2 ENST00000287437 human ensembl 69_37n +1 known missense c.295 p.D99H 1.000 NULL pfscan_Znf_MIZ - no_errors NSMCE2 HGNC ENSG00000156831 122 0 0.00 77 17 18.09 - - - OPHN1 0 genome.wustl.edu 37 X 67414316 67414316 + Nonsense_Mutation SNP G G A TCGA-AO-A03N-01B-11D-A10M-09 TCGA-AO-A03N-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef5987f1-46ac-430a-b94a-49afa0e286d4 0af57ba4-305f-4d9d-b6fd-b242be5cd19a X 67414316 67414316 G A SNP OPHN1 ENST00000355520 human ensembl 69_37n -1 known nonsense c.1129 p.Q377* 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors OPHN1 HGNC ENSG00000079482 368 0 0.00 203 359 63.88 - - - P4HA2 0 genome.wustl.edu 37 5 131533908 131533908 + Missense_Mutation SNP G G T TCGA-AO-A03N-01B-11D-A10M-09 TCGA-AO-A03N-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef5987f1-46ac-430a-b94a-49afa0e286d4 0af57ba4-305f-4d9d-b6fd-b242be5cd19a 5 131533908 131533908 G T SNP P4HA2 ENST00000166534 human ensembl 69_37n -1 known missense c.1362 p.F454L 1.000 pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph pfam_Pro_4_hyd_alph_N,pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors P4HA2 HGNC ENSG00000072682 193 0 0.00 201 58 22.39 - - - PCNXL2 0 genome.wustl.edu 37 1 233388221 233388221 + Missense_Mutation SNP C C G TCGA-AO-A03N-01B-11D-A10M-09 TCGA-AO-A03N-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef5987f1-46ac-430a-b94a-49afa0e286d4 0af57ba4-305f-4d9d-b6fd-b242be5cd19a 1 233388221 233388221 C G SNP PCNXL2 ENST00000258229 human ensembl 69_37n -1 known missense c.2007 p.Q669H 0.486 NULL pfam_Pecanex,superfamily_Pept_cys/ser_Trypsin-like - no_errors PCNXL2 HGNC ENSG00000135749 185 0 0.00 176 93 34.57 - - - PFDN6 0 genome.wustl.edu 37 6 33258201 33258201 + Silent SNP G G A TCGA-AO-A03N-01B-11D-A10M-09 TCGA-AO-A03N-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef5987f1-46ac-430a-b94a-49afa0e286d4 0af57ba4-305f-4d9d-b6fd-b242be5cd19a 6 33258201 33258201 G A SNP PFDN6 ENST00000374606 human ensembl 69_37n +1 known silent c.234 p.K78 1.000 pfam_PFD_beta-like,superfamily_Prefoldin pfam_PFD_beta-like,superfamily_Prefoldin - no_errors PFDN6 HGNC ENSG00000204220 86 0 0.00 133 32 19.39 - - - PGK2 0 genome.wustl.edu 37 6 49754484 49754484 + Silent SNP C C T TCGA-AO-A03N-01B-11D-A10M-09 TCGA-AO-A03N-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef5987f1-46ac-430a-b94a-49afa0e286d4 0af57ba4-305f-4d9d-b6fd-b242be5cd19a 6 49754484 49754484 C T SNP PGK2 ENST00000304801 human ensembl 69_37n -1 known silent c.417 p.K139 0.997 pfam_Phosphoglycerate_kinase,superfamily_Phosphoglycerate_kinase pfam_Phosphoglycerate_kinase,superfamily_Phosphoglycerate_kinase,prints_Phosphoglycerate_kinase - no_errors PGK2 HGNC ENSG00000170950 114 0 0.00 228 31 11.97 - - - PIK3CA 0 genome.wustl.edu 37 3 178936082 178936082 + Missense_Mutation SNP G G A TCGA-AO-A03N-01B-11D-A10M-09 TCGA-AO-A03N-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef5987f1-46ac-430a-b94a-49afa0e286d4 0af57ba4-305f-4d9d-b6fd-b242be5cd19a 3 178936082 178936082 G A SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.1624 p.E542K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 189 0 0.00 92 31 25.20 - - - PLD2 0 genome.wustl.edu 37 17 4711091 4711091 + Silent SNP C C T TCGA-AO-A03N-01B-11D-A10M-09 TCGA-AO-A03N-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef5987f1-46ac-430a-b94a-49afa0e286d4 0af57ba4-305f-4d9d-b6fd-b242be5cd19a 17 4711091 4711091 C T SNP PLD2 ENST00000263088 human ensembl 69_37n +1 known silent c.24 p.L8 0.820 pirsf_PLipase_D_euk pfam_Phox,pfam_PLipase_D/transphosphatidylase,superfamily_Phox,smart_Phox,smart_Pleckstrin_homology,smart_PLipase_D/transphosphatidylase,pirsf_PLipase_D_euk,pfscan_Phox,pfscan_PLipase_D/transphosphatidylase - no_errors PLD2 HGNC ENSG00000129219 17 0 0.00 33 13 28.26 - - - POM121L2 0 genome.wustl.edu 37 6 27278174 27278174 + Missense_Mutation SNP C C T TCGA-AO-A03N-01B-11D-A10M-09 TCGA-AO-A03N-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef5987f1-46ac-430a-b94a-49afa0e286d4 0af57ba4-305f-4d9d-b6fd-b242be5cd19a 6 27278174 27278174 C T SNP POM121L2 ENST00000444565 human ensembl 69_37n -1 known missense c.1776 p.M592I 0.000 NULL NULL - no_errors POM121L2 HGNC ENSG00000158553 102 1 0.97 109 26 19.26 - - - PPP1R1A 0 genome.wustl.edu 37 12 54974805 54974805 + Missense_Mutation SNP C C T TCGA-AO-A03N-01B-11D-A10M-09 TCGA-AO-A03N-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef5987f1-46ac-430a-b94a-49afa0e286d4 0af57ba4-305f-4d9d-b6fd-b242be5cd19a 12 54974805 54974805 C T SNP PPP1R1A ENST00000257905 human ensembl 69_37n -1 known missense c.433 p.E145K 0.996 pfam_PPI_1DARPP-32 pfam_PPI_1DARPP-32 - no_errors PPP1R1A HGNC ENSG00000135447 300 1 0.33 359 87 19.51 - - - PRIC285 0 genome.wustl.edu 37 20 62191561 62191561 + Silent SNP G G A TCGA-AO-A03N-01B-11D-A10M-09 TCGA-AO-A03N-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef5987f1-46ac-430a-b94a-49afa0e286d4 0af57ba4-305f-4d9d-b6fd-b242be5cd19a 20 62191561 62191561 G A SNP PRIC285 ENST00000467148 human ensembl 69_37n -1 known silent c.7620 p.I2540 0.002 NULL pfam_RNase_II/R,smart_RNase_II/R - no_errors RP4-697K14.7 Clone_based_vega_gene ENSG00000130589 16 0 0.00 25 5 16.67 - - - PRUNE2 0 genome.wustl.edu 37 9 79324907 79324907 + Missense_Mutation SNP C C T TCGA-AO-A03N-01B-11D-A10M-09 TCGA-AO-A03N-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef5987f1-46ac-430a-b94a-49afa0e286d4 0af57ba4-305f-4d9d-b6fd-b242be5cd19a 9 79324907 79324907 C T SNP PRUNE2 ENST00000426088 human ensembl 69_37n -1 known missense c.247 p.D83N 0.999 NULL pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region PRUNE2 HGNC ENSG00000106772 86 0 0.00 73 36 33.03 - - - RAB33A 0 genome.wustl.edu 37 X 129306147 129306147 + Missense_Mutation SNP C C G TCGA-AO-A03N-01B-11D-A10M-09 TCGA-AO-A03N-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef5987f1-46ac-430a-b94a-49afa0e286d4 0af57ba4-305f-4d9d-b6fd-b242be5cd19a X 129306147 129306147 C G SNP RAB33A ENST00000257017 human ensembl 69_37n +1 known missense c.111 p.F37L 1.000 pfam_Small_GTPase_ARF/SAR,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_ProtSyn_GTP-bd,pfam_SRP_receptor_beta_su,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB33A HGNC ENSG00000134594 30 0 0.00 54 11 16.92 - - - RELN 0 genome.wustl.edu 37 7 103130322 103130322 + Silent SNP C C T TCGA-AO-A03N-01B-11D-A10M-09 TCGA-AO-A03N-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef5987f1-46ac-430a-b94a-49afa0e286d4 0af57ba4-305f-4d9d-b6fd-b242be5cd19a 7 103130322 103130322 C T SNP RELN ENST00000424685 human ensembl 69_37n -1 known silent c.9630 p.Q3210 1.000 NULL pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Neuraminidase,superfamily_Growth_fac_rcpt,smart_EGF-like,pfscan_EG-like_dom,pfscan_Reeler_dom - no_errors RELN HGNC ENSG00000189056 83 0 0.00 74 12 13.95 - - - RERG 0 genome.wustl.edu 37 12 15262253 15262253 + Missense_Mutation SNP C C T TCGA-AO-A03N-01B-11D-A10M-09 TCGA-AO-A03N-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef5987f1-46ac-430a-b94a-49afa0e286d4 0af57ba4-305f-4d9d-b6fd-b242be5cd19a 12 15262253 15262253 C T SNP RERG ENST00000256953 human ensembl 69_37n -1 known missense c.391 p.E131K 1.000 pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RERG HGNC ENSG00000134533 179 0 0.00 252 63 20.00 - - - RGPD3 0 genome.wustl.edu 37 2 107040417 107040417 + Missense_Mutation SNP C C G TCGA-AO-A03N-01B-11D-A10M-09 TCGA-AO-A03N-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef5987f1-46ac-430a-b94a-49afa0e286d4 0af57ba4-305f-4d9d-b6fd-b242be5cd19a 2 107040417 107040417 C G SNP RGPD3 ENST00000304514 human ensembl 69_37n -1 known missense c.4006 p.E1336Q 1.000 smart_Ran_bind_dom,pfscan_Ran_bind_dom pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD3 HGNC ENSG00000153165 177 0 0.00 95 28 22.76 - - - RNF40 0 genome.wustl.edu 37 16 30783268 30783268 + Missense_Mutation SNP G G C TCGA-AO-A03N-01B-11D-A10M-09 TCGA-AO-A03N-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef5987f1-46ac-430a-b94a-49afa0e286d4 0af57ba4-305f-4d9d-b6fd-b242be5cd19a 16 30783268 30783268 G C SNP RNF40 ENST00000324685 human ensembl 69_37n +1 known missense c.2701 p.E901Q 1.000 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors RNF40 HGNC ENSG00000103549 12 0 0.00 42 8 16.00 - - - RPS16 0 genome.wustl.edu 37 19 39924348 39924348 + Silent SNP G G T TCGA-AO-A03N-01B-11D-A10M-09 TCGA-AO-A03N-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef5987f1-46ac-430a-b94a-49afa0e286d4 0af57ba4-305f-4d9d-b6fd-b242be5cd19a 19 39924348 39924348 G T SNP RPS16 ENST00000339471 human ensembl 69_37n -1 known silent c.204 p.I68 1.000 pfam_Ribosomal_S9,superfamily_Ribosomal_S5_D2-typ_fold pfam_Ribosomal_S9,superfamily_Ribosomal_S5_D2-typ_fold - no_errors RPS16 HGNC ENSG00000105193 57 0 0.00 82 18 18.00 - - - RTL1 0 genome.wustl.edu 37 14 101348584 101348584 + Missense_Mutation SNP C C T TCGA-AO-A03N-01B-11D-A10M-09 TCGA-AO-A03N-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef5987f1-46ac-430a-b94a-49afa0e286d4 0af57ba4-305f-4d9d-b6fd-b242be5cd19a 14 101348584 101348584 C T SNP RTL1 ENST00000534062 human ensembl 69_37n -1 known missense c.2542 p.E848K 0.995 NULL pfam_Retrotrans_gag,superfamily_Peptidase_aspartic - no_errors RTL1 HGNC ENSG00000254656 34 0 0.00 41 11 21.15 - - - RTN4 0 genome.wustl.edu 37 2 55252534 55252534 + Missense_Mutation SNP C C A TCGA-AO-A03N-01B-11D-A10M-09 TCGA-AO-A03N-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef5987f1-46ac-430a-b94a-49afa0e286d4 0af57ba4-305f-4d9d-b6fd-b242be5cd19a 2 55252534 55252534 C A SNP RTN4 ENST00000337526 human ensembl 69_37n -1 known missense c.2701 p.A901S 0.000 NULL pfam_Reticulon,pfscan_Reticulon - no_errors RTN4 HGNC ENSG00000115310 62 0 0.00 46 10 17.86 - - - SCAPER 0 genome.wustl.edu 37 15 76726583 76726583 + Missense_Mutation SNP C C G TCGA-AO-A03N-01B-11D-A10M-09 TCGA-AO-A03N-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef5987f1-46ac-430a-b94a-49afa0e286d4 0af57ba4-305f-4d9d-b6fd-b242be5cd19a 15 76726583 76726583 C G SNP SCAPER ENST00000324767 human ensembl 69_37n -1 known missense c.3147 p.L1049F 1.000 NULL smart_Znf_U1 - no_errors SCAPER HGNC ENSG00000140386 161 0 0.00 98 45 31.47 - - - SLC37A1 0 genome.wustl.edu 37 21 43967216 43967216 + Missense_Mutation SNP C C T TCGA-AO-A03N-01B-11D-A10M-09 TCGA-AO-A03N-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef5987f1-46ac-430a-b94a-49afa0e286d4 0af57ba4-305f-4d9d-b6fd-b242be5cd19a 21 43967216 43967216 C T SNP SLC37A1 ENST00000352133 human ensembl 69_37n +1 known missense c.734 p.P245L 0.975 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC37A1 HGNC ENSG00000160190 159 0 0.00 239 69 22.40 - - - SLC5A2 0 genome.wustl.edu 37 16 31496154 31496154 + Silent SNP C C G TCGA-AO-A03N-01B-11D-A10M-09 TCGA-AO-A03N-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef5987f1-46ac-430a-b94a-49afa0e286d4 0af57ba4-305f-4d9d-b6fd-b242be5cd19a 16 31496154 31496154 C G SNP SLC5A2 ENST00000330498 human ensembl 69_37n +1 known silent c.213 p.L71 1.000 pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A2 HGNC ENSG00000140675 35 0 0.00 120 17 12.41 - - - SLC5A3 0 genome.wustl.edu 37 21 35467894 35467894 + Missense_Mutation SNP C C G TCGA-AO-A03N-01B-11D-A10M-09 TCGA-AO-A03N-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef5987f1-46ac-430a-b94a-49afa0e286d4 0af57ba4-305f-4d9d-b6fd-b242be5cd19a 21 35467894 35467894 C G SNP SLC5A3 ENST00000381151 human ensembl 69_37n +1 known missense c.397 p.L133V 1.000 pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A3 HGNC ENSG00000198743 128 0 0.00 163 37 18.50 - - - SLC8A3 0 genome.wustl.edu 37 14 70634913 70634913 + Missense_Mutation SNP C C A TCGA-AO-A03N-01B-11D-A10M-09 TCGA-AO-A03N-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef5987f1-46ac-430a-b94a-49afa0e286d4 0af57ba4-305f-4d9d-b6fd-b242be5cd19a 14 70634913 70634913 C A SNP SLC8A3 ENST00000381269 human ensembl 69_37n -1 known missense c.227 p.R76M 1.000 tigrfam_Na_Ca_Ex pfam_NaCa_Exmemb,pfam_Calx_beta,smart_Calx_beta,prints_Na_Ca_Ex,tigrfam_Na_Ca_Ex - no_errors SLC8A3 HGNC ENSG00000100678 86 0 0.00 24 41 63.08 - - - SRPR 0 genome.wustl.edu 37 11 126136666 126136666 + Missense_Mutation SNP C C A TCGA-AO-A03N-01B-11D-A10M-09 TCGA-AO-A03N-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef5987f1-46ac-430a-b94a-49afa0e286d4 0af57ba4-305f-4d9d-b6fd-b242be5cd19a 11 126136666 126136666 C A SNP SRPR ENST00000332118 human ensembl 69_37n -1 known missense c.678 p.E226D 0.962 pfam_Sig_recog_particle_rcpt_asu_N pfam_Sig_recog_particle_rcpt_asu_N,pfam_Signal_recog_part_SRP54_GTPase,pfam_ArgK,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,pfam_Signal_recog_particl_SRP54_hlx,superfamily_Longin-like_dom,superfamily_Signal_recog_particl_SRP54_hlx,smart_Signal_recog_particl_SRP54_hlx,smart_AAA+_ATPase,smart_Signal_recog_part_SRP54_GTPase - no_errors SRPR HGNC ENSG00000182934 74 0 0.00 52 51 49.51 - - - STEAP1B 0 genome.wustl.edu 37 7 22533058 22533058 + Missense_Mutation SNP C C T TCGA-AO-A03N-01B-11D-A10M-09 TCGA-AO-A03N-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef5987f1-46ac-430a-b94a-49afa0e286d4 0af57ba4-305f-4d9d-b6fd-b242be5cd19a 7 22533058 22533058 C T SNP STEAP1B ENST00000406890 human ensembl 69_37n -1 known missense c.425 p.R142K 1.000 pfam_Fe3_Rdtase_TM_dom pfam_Fe3_Rdtase_TM_dom - no_errors STEAP1B HGNC ENSG00000105889 325 0 0.00 302 59 16.34 - - - SYNRG 0 genome.wustl.edu 37 17 35900635 35900635 + Missense_Mutation SNP C C G TCGA-AO-A03N-01B-11D-A10M-09 TCGA-AO-A03N-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef5987f1-46ac-430a-b94a-49afa0e286d4 0af57ba4-305f-4d9d-b6fd-b242be5cd19a 17 35900635 35900635 C G SNP SYNRG ENST00000339208 human ensembl 69_37n -1 known missense c.3213 p.K1071N 1.000 NULL smart_EPS15_homology,pfscan_EPS15_homology - no_errors SYNRG HGNC ENSG00000006114 64 0 0.00 55 34 38.20 - - - TAS1R1 0 genome.wustl.edu 37 1 6639317 6639317 + Silent SNP C C G TCGA-AO-A03N-01B-11D-A10M-09 TCGA-AO-A03N-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef5987f1-46ac-430a-b94a-49afa0e286d4 0af57ba4-305f-4d9d-b6fd-b242be5cd19a 1 6639317 6639317 C G SNP TAS1R1 ENST00000333172 human ensembl 69_37n +1 known silent c.2199 p.L733 0.279 pfam_GPCR_3_C,pfscan_GPCR_3_C pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3 - no_errors TAS1R1 HGNC ENSG00000173662 103 0 0.00 100 47 31.97 - - - TAS2R42 0 genome.wustl.edu 37 12 11338818 11338818 + Silent SNP G G A TCGA-AO-A03N-01B-11D-A10M-09 TCGA-AO-A03N-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef5987f1-46ac-430a-b94a-49afa0e286d4 0af57ba4-305f-4d9d-b6fd-b242be5cd19a 12 11338818 11338818 G A SNP TAS2R42 ENST00000334266 human ensembl 69_37n -1 known silent c.726 p.L242 0.038 pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_supfam pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_supfam - no_errors TAS2R42 HGNC ENSG00000186136 123 0 0.00 96 23 19.33 - - - TGDS 0 genome.wustl.edu 37 13 95232200 95232200 + Missense_Mutation SNP A A G TCGA-AO-A03N-01B-11D-A10M-09 TCGA-AO-A03N-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef5987f1-46ac-430a-b94a-49afa0e286d4 0af57ba4-305f-4d9d-b6fd-b242be5cd19a 13 95232200 95232200 A G SNP TGDS ENST00000261296 human ensembl 69_37n -1 known missense c.563 p.V188A 1.000 pfam_Epimerase_deHydtase,pfam_3Beta_OHSteriod_DH/Estase,pfam_dTDP_dehydrorham_reduct,pfam_Polysac_CapD-like,pfam_Male_sterile_NAD-bd pfam_Epimerase_deHydtase,pfam_3Beta_OHSteriod_DH/Estase,pfam_dTDP_dehydrorham_reduct,pfam_Polysac_CapD-like,pfam_Male_sterile_NAD-bd - no_errors TGDS HGNC ENSG00000088451 319 0 0.00 123 52 29.71 - - - TP53 0 genome.wustl.edu 37 17 7578449 7578449 + Missense_Mutation SNP C C T TCGA-AO-A03N-01B-11D-A10M-09 TCGA-AO-A03N-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef5987f1-46ac-430a-b94a-49afa0e286d4 0af57ba4-305f-4d9d-b6fd-b242be5cd19a 17 7578449 7578449 C T SNP TP53 ENST00000269305 human ensembl 69_37n -1 known missense c.481 p.A161T 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 39 0 0.00 17 39 69.64 - - - TRPC3 0 genome.wustl.edu 37 4 122853847 122853847 + Missense_Mutation SNP C C T TCGA-AO-A03N-01B-11D-A10M-09 TCGA-AO-A03N-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef5987f1-46ac-430a-b94a-49afa0e286d4 0af57ba4-305f-4d9d-b6fd-b242be5cd19a 4 122853847 122853847 C T SNP TRPC3 ENST00000379645 human ensembl 69_37n -1 known missense c.566 p.R189H 1.000 superfamily_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPC3_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC3 HGNC ENSG00000138741 14 0 0.00 21 6 22.22 - - - USPL1 0 genome.wustl.edu 37 13 31233476 31233476 + Silent SNP C C T TCGA-AO-A03N-01B-11D-A10M-09 TCGA-AO-A03N-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef5987f1-46ac-430a-b94a-49afa0e286d4 0af57ba4-305f-4d9d-b6fd-b242be5cd19a 13 31233476 31233476 C T SNP USPL1 ENST00000255304 human ensembl 69_37n +1 known silent c.3262 p.L1088 0.899 NULL pfscan_Peptidase_C19 - no_errors USPL1 HGNC ENSG00000132952 122 0 0.00 72 63 46.67 - - - VPS41 0 genome.wustl.edu 37 7 38807156 38807156 + Missense_Mutation SNP C C T TCGA-AO-A03N-01B-11D-A10M-09 TCGA-AO-A03N-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef5987f1-46ac-430a-b94a-49afa0e286d4 0af57ba4-305f-4d9d-b6fd-b242be5cd19a 7 38807156 38807156 C T SNP VPS41 ENST00000310301 human ensembl 69_37n -1 known missense c.1228 p.D410N 1.000 pirsf_VPS41 pfam_Clathrin_H-chain/VPS_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_VPS41,pfscan_Znf_RING - no_errors VPS41 HGNC ENSG00000006715 205 0 0.00 213 52 19.62 - - - WDR37 0 genome.wustl.edu 37 10 1118202 1118202 + Missense_Mutation SNP C C T TCGA-AO-A03N-01B-11D-A10M-09 TCGA-AO-A03N-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef5987f1-46ac-430a-b94a-49afa0e286d4 0af57ba4-305f-4d9d-b6fd-b242be5cd19a 10 1118202 1118202 C T SNP WDR37 ENST00000263150 human ensembl 69_37n +1 known missense c.107 p.T36M 0.602 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR37 HGNC ENSG00000047056 71 0 0.00 30 48 61.54 - - - WNK3 0 genome.wustl.edu 37 X 54275569 54275569 + Missense_Mutation SNP G G A TCGA-AO-A03N-01B-11D-A10M-09 TCGA-AO-A03N-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef5987f1-46ac-430a-b94a-49afa0e286d4 0af57ba4-305f-4d9d-b6fd-b242be5cd19a X 54275569 54275569 G A SNP WNK3 ENST00000354646 human ensembl 69_37n -1 known missense c.3212 p.P1071L 0.030 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors WNK3 HGNC ENSG00000196632 210 0 0.00 235 29 10.98 - - - ZAN 0 genome.wustl.edu 37 7 100352988 100352988 + Missense_Mutation SNP C C G TCGA-AO-A03N-01B-11D-A10M-09 TCGA-AO-A03N-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef5987f1-46ac-430a-b94a-49afa0e286d4 0af57ba4-305f-4d9d-b6fd-b242be5cd19a 7 100352988 100352988 C G SNP ZAN ENST00000546292 human ensembl 69_37n +1 known missense c.3264 p.I1088M 0.965 pfam_TIL_dom,superfamily_TIL_dom pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EGF-like,pfscan_EG-like_dom,pfscan_MAM_dom - no_errors ZAN HGNC ENSG00000146839 73 0 0.00 149 31 17.22 - - - ZFYVE20 0 genome.wustl.edu 37 3 15115823 15115823 + Silent SNP G G A TCGA-AO-A03N-01B-11D-A10M-09 TCGA-AO-A03N-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef5987f1-46ac-430a-b94a-49afa0e286d4 0af57ba4-305f-4d9d-b6fd-b242be5cd19a 3 15115823 15115823 G A SNP ZFYVE20 ENST00000253699 human ensembl 69_37n -1 known silent c.1821 p.G607 0.023 NULL pfam_Rbsn,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Znf_C2H2 - no_errors ZFYVE20 HGNC ENSG00000131381 80 0 0.00 87 38 30.40 - - - ZNF69 0 genome.wustl.edu 37 19 12016630 12016630 + Missense_Mutation SNP C C G TCGA-AO-A03N-01B-11D-A10M-09 TCGA-AO-A03N-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ef5987f1-46ac-430a-b94a-49afa0e286d4 0af57ba4-305f-4d9d-b6fd-b242be5cd19a 19 12016630 12016630 C G SNP ZNF69 ENST00000429654 human ensembl 69_37n +1 known missense c.1418 p.S473C 0.990 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 ZNF69 HGNC ENSG00000198429 127 0 0.00 83 23 21.70 - - -