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 ATP6V0E1 0 genome.wustl.edu 37 5 172410873 172410873 + Missense_Mutation SNP C C G TCGA-AO-A0JE-01A-11W-A071-09 TCGA-AO-A0JE-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4f311714-ebb4-47fb-b471-62c6951d9066 f08265fa-cf7d-4d5b-a516-a319b0595cc1 5 172410873 172410873 C G SNP ATP6V0E1 ENST00000517669 human ensembl 69_37n +1 known missense c.10 p.H4D 0.000 pirsf_ATPase_V0-cplx_esu_met pfam_ATPase_V0-cplx_esu,pirsf_ATPase_V0-cplx_esu_met - no_errors ATP6V0E1 HGNC ENSG00000113732 88 0 0.00 34 14 29.17 - - - BLM 0 genome.wustl.edu 37 15 91346773 91346773 + Missense_Mutation SNP G G T TCGA-AO-A0JE-01A-11W-A071-09 TCGA-AO-A0JE-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4f311714-ebb4-47fb-b471-62c6951d9066 f08265fa-cf7d-4d5b-a516-a319b0595cc1 15 91346773 91346773 G T SNP BLM ENST00000355112 human ensembl 69_37n +1 known missense c.3381 p.Q1127H 1.000 pfam_RQC_domain,smart_RQC_domain,tigrfam_DNA_helicase_ATP-dep_RecQ pfam_RQC_domain,pfam_BDHCT,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/RNaseD_C,superfamily_HRDC-like,smart_Helicase_ATP-bd,smart_Helicase_C,smart_RQC_domain,smart_Helicase/RNaseD_C,pfscan_Helicase/RNaseD_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors BLM HGNC ENSG00000197299 126 0 0.00 100 24 19.35 - - - BTN1A1 0 genome.wustl.edu 37 6 26509153 26509153 + Missense_Mutation SNP C C G TCGA-AO-A0JE-01A-11W-A071-09 TCGA-AO-A0JE-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4f311714-ebb4-47fb-b471-62c6951d9066 f08265fa-cf7d-4d5b-a516-a319b0595cc1 6 26509153 26509153 C G SNP BTN1A1 ENST00000244513 human ensembl 69_37n +1 known missense c.1332 p.I444M 0.981 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,pfam_Ig_V-set,pfam_CD80_C2-set,superfamily_ConA-like_lec_gl,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Ig-like,prints_Butyrophylin - no_errors BTN1A1 HGNC ENSG00000124557 185 0 0.00 92 33 26.40 - - - C11orf30 0 genome.wustl.edu 37 11 76227289 76227289 + Missense_Mutation SNP C C G TCGA-AO-A0JE-01A-11W-A071-09 TCGA-AO-A0JE-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4f311714-ebb4-47fb-b471-62c6951d9066 f08265fa-cf7d-4d5b-a516-a319b0595cc1 11 76227289 76227289 C G SNP C11orf30 ENST00000334736 human ensembl 69_37n +1 known missense c.1617 p.I539M 1.000 NULL pfam_ENT_N,pfscan_ENT_N - no_errors C11orf30 HGNC ENSG00000158636 156 0 0.00 155 23 12.92 - - - C6orf165 0 genome.wustl.edu 37 6 88136307 88136307 + Missense_Mutation SNP G G C TCGA-AO-A0JE-01A-11W-A071-09 TCGA-AO-A0JE-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4f311714-ebb4-47fb-b471-62c6951d9066 f08265fa-cf7d-4d5b-a516-a319b0595cc1 6 88136307 88136307 G C SNP C6orf165 ENST00000369562 human ensembl 69_37n +1 known missense c.904 p.E302Q 1.000 pfam_DUF3508 pfam_DUF3508 - no_errors C6orf165 HGNC ENSG00000213204 42 0 0.00 13 8 38.10 - - - CIT 0 genome.wustl.edu 37 12 120152115 120152115 + Missense_Mutation SNP C C T TCGA-AO-A0JE-01A-11W-A071-09 TCGA-AO-A0JE-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4f311714-ebb4-47fb-b471-62c6951d9066 f08265fa-cf7d-4d5b-a516-a319b0595cc1 12 120152115 120152115 C T SNP CIT ENST00000261833 human ensembl 69_37n -1 known missense c.4067 p.R1356H 1.000 pirsf_Citron_Rho-interacting_kinase pfam_Citron,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pirsf_Citron_Rho-interacting_kinase,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom - no_errors CIT HGNC ENSG00000122966 111 0 0.00 40 11 21.57 - - - COX10 0 genome.wustl.edu 37 17 14095383 14095383 + Missense_Mutation SNP T T A TCGA-AO-A0JE-01A-11W-A071-09 TCGA-AO-A0JE-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4f311714-ebb4-47fb-b471-62c6951d9066 f08265fa-cf7d-4d5b-a516-a319b0595cc1 17 14095383 14095383 T A SNP COX10 ENST00000261643 human ensembl 69_37n +1 known missense c.773 p.L258H 1.000 pfam_UbiA_prenyltransferase,pirsf_Protohaem_IX_farnesylTrfase_mt,tigrfam_Protohaem_IX_farnesylTrfase pfam_UbiA_prenyltransferase,pirsf_Protohaem_IX_farnesylTrfase_mt,tigrfam_Protohaem_IX_farnesylTrfase - no_errors COX10 HGNC ENSG00000006695 177 1 0.56 58 8 12.12 - - - DCAF8 0 genome.wustl.edu 37 1 160251960 160251960 + Missense_Mutation SNP T T C TCGA-AO-A0JE-01A-11W-A071-09 TCGA-AO-A0JE-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4f311714-ebb4-47fb-b471-62c6951d9066 f08265fa-cf7d-4d5b-a516-a319b0595cc1 1 160251960 160251960 T C SNP DCAF8 ENST00000555195 human ensembl 69_37n -1 known missense c.22 p.K8E 1.000 pfam_Pex19 pfam_Pex19,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF8 HGNC ENSG00000132716 86 0 0.00 72 28 28.00 - - - DEFB112 0 genome.wustl.edu 37 6 50016314 50016314 + Silent SNP T T C TCGA-AO-A0JE-01A-11W-A071-09 TCGA-AO-A0JE-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4f311714-ebb4-47fb-b471-62c6951d9066 f08265fa-cf7d-4d5b-a516-a319b0595cc1 6 50016314 50016314 T C SNP DEFB112 ENST00000322246 human ensembl 69_37n -1 known silent c.51 p.S17 0.000 NULL NULL - no_errors DEFB112 HGNC ENSG00000180872 89 0 0.00 46 12 20.69 - - - DNAH5 0 genome.wustl.edu 37 5 13862717 13862717 + Missense_Mutation SNP G G A TCGA-AO-A0JE-01A-11W-A071-09 TCGA-AO-A0JE-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4f311714-ebb4-47fb-b471-62c6951d9066 f08265fa-cf7d-4d5b-a516-a319b0595cc1 5 13862717 13862717 G A SNP DNAH5 ENST00000265104 human ensembl 69_37n -1 known missense c.4736 p.S1579L 0.941 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 233 1 0.43 240 43 15.19 - - - DOPEY2 0 genome.wustl.edu 37 21 37617884 37617884 + Silent SNP C C T TCGA-AO-A0JE-01A-11W-A071-09 TCGA-AO-A0JE-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4f311714-ebb4-47fb-b471-62c6951d9066 f08265fa-cf7d-4d5b-a516-a319b0595cc1 21 37617884 37617884 C T SNP DOPEY2 ENST00000399151 human ensembl 69_37n +1 known silent c.3606 p.L1202 0.221 NULL pfam_Dopey_N - no_errors DOPEY2 HGNC ENSG00000142197 36 0 0.00 10 5 33.33 - - - DSE 0 genome.wustl.edu 37 6 116757429 116757429 + Missense_Mutation SNP G G C TCGA-AO-A0JE-01A-11W-A071-09 TCGA-AO-A0JE-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4f311714-ebb4-47fb-b471-62c6951d9066 f08265fa-cf7d-4d5b-a516-a319b0595cc1 6 116757429 116757429 G C SNP DSE ENST00000537543 human ensembl 69_37n +1 known missense c.1855 p.D619H 1.000 NULL superfamily_Chondroitin_lyas - no_errors DSE HGNC ENSG00000111817 87 0 0.00 54 15 21.74 - - - FCER1A 0 genome.wustl.edu 37 1 159277697 159277697 + Missense_Mutation SNP C C T TCGA-AO-A0JE-01A-11W-A071-09 TCGA-AO-A0JE-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4f311714-ebb4-47fb-b471-62c6951d9066 f08265fa-cf7d-4d5b-a516-a319b0595cc1 1 159277697 159277697 C T SNP FCER1A ENST00000368115 human ensembl 69_37n +1 known missense c.749 p.P250L 0.000 NULL pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors FCER1A HGNC ENSG00000179639 142 0 0.00 153 45 22.73 - - - IRF9 0 genome.wustl.edu 37 14 24633978 24633978 + Nonsense_Mutation SNP C C T TCGA-AO-A0JE-01A-11W-A071-09 TCGA-AO-A0JE-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4f311714-ebb4-47fb-b471-62c6951d9066 f08265fa-cf7d-4d5b-a516-a319b0595cc1 14 24633978 24633978 C T SNP IRF9 ENST00000396864 human ensembl 69_37n +1 known nonsense c.805 p.Q269* 0.880 pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain pfam_Interferon_reg_fact_DNA-bd_dom,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF9 HGNC ENSG00000213928 80 0 0.00 35 4 10.26 - - - LRP2 0 genome.wustl.edu 37 2 170060576 170060576 + Missense_Mutation SNP T T C TCGA-AO-A0JE-01A-11W-A071-09 TCGA-AO-A0JE-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4f311714-ebb4-47fb-b471-62c6951d9066 f08265fa-cf7d-4d5b-a516-a319b0595cc1 2 170060576 170060576 T C SNP LRP2 ENST00000263816 human ensembl 69_37n -1 known missense c.7921 p.N2641D 0.777 NULL pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP2 HGNC ENSG00000081479 334 0 0.00 141 44 23.66 - - - LYST 0 genome.wustl.edu 37 1 235973301 235973301 + Missense_Mutation SNP C C T TCGA-AO-A0JE-01A-11W-A071-09 TCGA-AO-A0JE-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4f311714-ebb4-47fb-b471-62c6951d9066 f08265fa-cf7d-4d5b-a516-a319b0595cc1 1 235973301 235973301 C T SNP LYST ENST00000389793 human ensembl 69_37n -1 known missense c.817 p.V273I 0.476 NULL 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 123 0 0.00 74 59 44.36 - - - MAGI1 0 genome.wustl.edu 37 3 65361490 65361490 + Missense_Mutation SNP G G C TCGA-AO-A0JE-01A-11W-A071-09 TCGA-AO-A0JE-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4f311714-ebb4-47fb-b471-62c6951d9066 f08265fa-cf7d-4d5b-a516-a319b0595cc1 3 65361490 65361490 G C SNP MAGI1 ENST00000460329 human ensembl 69_37n -1 putative missense c.2852 p.P951R 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,pfam_WW_Rsp5_WWP,pfam_Guanylate_kin,superfamily_PDZ,superfamily_WW_Rsp5_WWP,smart_Guanylate_kin/L-typ_Ca_channel,smart_WW_Rsp5_WWP,smart_PDZ,pfscan_PDZ,pfscan_WW_Rsp5_WWP,pfscan_Guanylate_kin - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region MAGI1 HGNC ENSG00000151276 182 0 0.00 64 29 31.18 - - - MIB1 0 genome.wustl.edu 37 18 19348649 19348649 + Missense_Mutation SNP G G C TCGA-AO-A0JE-01A-11W-A071-09 TCGA-AO-A0JE-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4f311714-ebb4-47fb-b471-62c6951d9066 f08265fa-cf7d-4d5b-a516-a319b0595cc1 18 19348649 19348649 G C SNP MIB1 ENST00000261537 human ensembl 69_37n +1 known missense c.467 p.R156T 1.000 pfam_Mib_Herc2 pfam_Ankyrin_rpt,pfam_Mib_Herc2,pfam_Znf_ZZ,superfamily_Ankyrin_rpt-contain_dom,smart_Znf_ZZ,smart_Ankyrin_rpt,smart_Znf_RING,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Znf_RING,pfscan_Znf_ZZ - no_errors MIB1 HGNC ENSG00000101752 41 0 0.00 18 11 37.93 - - - MLL3 0 genome.wustl.edu 37 7 151919733 151919733 + Nonsense_Mutation SNP C C A TCGA-AO-A0JE-01A-11W-A071-09 TCGA-AO-A0JE-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4f311714-ebb4-47fb-b471-62c6951d9066 f08265fa-cf7d-4d5b-a516-a319b0595cc1 7 151919733 151919733 C A SNP MLL3 ENST00000355193 human ensembl 69_37n -1 known nonsense c.3358 p.E1120* 1.000 superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL3 HGNC ENSG00000055609 91 0 0.00 33 7 17.50 - - - MMP13 0 genome.wustl.edu 37 11 102822757 102822757 + Silent SNP C C A TCGA-AO-A0JE-01A-11W-A071-09 TCGA-AO-A0JE-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4f311714-ebb4-47fb-b471-62c6951d9066 f08265fa-cf7d-4d5b-a516-a319b0595cc1 11 102822757 102822757 C A SNP MMP13 ENST00000340273 human ensembl 69_37n -1 novel silent c.783 p.G261 0.981 pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin pfam_Pept_M10_metallopeptidase,pfam_Hemopexin/matrixin_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin - no_errors MMP13 HGNC ENSG00000137745 453 0 0.00 421 61 12.63 - - - MORC4 0 genome.wustl.edu 37 X 106205310 106205310 + Silent SNP G G T TCGA-AO-A0JE-01A-11W-A071-09 TCGA-AO-A0JE-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4f311714-ebb4-47fb-b471-62c6951d9066 f08265fa-cf7d-4d5b-a516-a319b0595cc1 X 106205310 106205310 G T SNP MORC4 ENST00000355610 human ensembl 69_37n -1 known silent c.1188 p.L396 0.995 NULL pfam_Znf_CW,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,superfamily_Prefoldin,pfscan_Znf_CW - no_errors MORC4 HGNC ENSG00000133131 297 0 0.00 224 68 23.29 - - - MYT1L 0 genome.wustl.edu 37 2 1891341 1891341 + Missense_Mutation SNP C C G TCGA-AO-A0JE-01A-11W-A071-09 TCGA-AO-A0JE-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4f311714-ebb4-47fb-b471-62c6951d9066 f08265fa-cf7d-4d5b-a516-a319b0595cc1 2 1891341 1891341 C G SNP MYT1L ENST00000399161 human ensembl 69_37n -1 known missense c.2561 p.R854T 0.993 pfam_Myelin_TF pfam_Myelin_TF,pfam_Znf_C2HC - no_errors MYT1L HGNC ENSG00000186487 166 0 0.00 104 16 13.33 - - - NT5C1B 0 genome.wustl.edu 37 2 18765887 18765887 + Missense_Mutation SNP C C T TCGA-AO-A0JE-01A-11W-A071-09 TCGA-AO-A0JE-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4f311714-ebb4-47fb-b471-62c6951d9066 f08265fa-cf7d-4d5b-a516-a319b0595cc1 2 18765887 18765887 C T SNP NT5C1B ENST00000359846 human ensembl 69_37n -1 known missense c.796 p.E266K 0.386 NULL pfam_5-nucleotidase - no_errors NT5C1B HGNC ENSG00000185013 27 0 0.00 10 4 28.57 - - - OR2G6 0 genome.wustl.edu 37 1 248685560 248685560 + Missense_Mutation SNP G G A TCGA-AO-A0JE-01A-11W-A071-09 TCGA-AO-A0JE-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4f311714-ebb4-47fb-b471-62c6951d9066 f08265fa-cf7d-4d5b-a516-a319b0595cc1 1 248685560 248685560 G A SNP OR2G6 ENST00000343414 human ensembl 69_37n +1 known missense c.613 p.V205I 0.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR2G6 HGNC ENSG00000188558 234 0 0.00 203 36 15.06 - - - OR4D10 0 genome.wustl.edu 37 11 59245266 59245266 + Nonsense_Mutation SNP C C T TCGA-AO-A0JE-01A-11W-A071-09 TCGA-AO-A0JE-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4f311714-ebb4-47fb-b471-62c6951d9066 f08265fa-cf7d-4d5b-a516-a319b0595cc1 11 59245266 59245266 C T SNP OR4D10 ENST00000530162 human ensembl 69_37n +1 known nonsense c.364 p.R122* 0.463 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR4D10 HGNC ENSG00000254466 265 1 0.38 143 42 22.70 - - - PGLYRP3 0 genome.wustl.edu 37 1 153274985 153274985 + Missense_Mutation SNP C C T TCGA-AO-A0JE-01A-11W-A071-09 TCGA-AO-A0JE-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4f311714-ebb4-47fb-b471-62c6951d9066 f08265fa-cf7d-4d5b-a516-a319b0595cc1 1 153274985 153274985 C T SNP PGLYRP3 ENST00000290722 human ensembl 69_37n -1 known missense c.628 p.A210T 0.001 pfam_Amidase_domain,superfamily_Amidase_domain,smart_PGRP_domain_met/bac,smart_Amidase_domain pfam_Amidase_domain,superfamily_Amidase_domain,smart_PGRP_domain_met/bac,smart_Amidase_domain - no_errors PGLYRP3 HGNC ENSG00000159527 181 0 0.00 54 34 38.64 - - - PLD5 0 genome.wustl.edu 37 1 242253277 242253277 + Missense_Mutation SNP G G A TCGA-AO-A0JE-01A-11W-A071-09 TCGA-AO-A0JE-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4f311714-ebb4-47fb-b471-62c6951d9066 f08265fa-cf7d-4d5b-a516-a319b0595cc1 1 242253277 242253277 G A SNP PLD5 ENST00000536534 human ensembl 69_37n -1 known missense c.1490 p.P497L 0.973 NULL smart_PLipase_D/transphosphatidylase - no_errors PLD5 HGNC ENSG00000180287 452 0 0.00 238 195 45.03 - - - PPP2R1A 0 genome.wustl.edu 37 19 52729060 52729060 + Silent SNP T T G TCGA-AO-A0JE-01A-11W-A071-09 TCGA-AO-A0JE-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4f311714-ebb4-47fb-b471-62c6951d9066 f08265fa-cf7d-4d5b-a516-a319b0595cc1 19 52729060 52729060 T G SNP PPP2R1A ENST00000322088 human ensembl 69_37n +1 known silent c.1752 p.T584 1.000 superfamily_ARM-type_fold,pfscan_HEAT_type_2 pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors PPP2R1A HGNC ENSG00000105568 167 1 0.60 78 63 44.37 - - - SLC6A4 0 genome.wustl.edu 37 17 28545924 28545924 + Silent SNP G G A TCGA-AO-A0JE-01A-11W-A071-09 TCGA-AO-A0JE-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4f311714-ebb4-47fb-b471-62c6951d9066 f08265fa-cf7d-4d5b-a516-a319b0595cc1 17 28545924 28545924 G A SNP SLC6A4 ENST00000261707 human ensembl 69_37n -1 known silent c.369 p.I123 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport pfam_Na/ntran_symport,pfam_Na/ntran_symport_serotonin_N,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_serotonin_N - no_errors SLC6A4 HGNC ENSG00000108576 184 0 0.00 146 34 18.78 - - - SNAP25 0 genome.wustl.edu 37 20 10277623 10277623 + Missense_Mutation SNP G G C TCGA-AO-A0JE-01A-11W-A071-09 TCGA-AO-A0JE-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4f311714-ebb4-47fb-b471-62c6951d9066 f08265fa-cf7d-4d5b-a516-a319b0595cc1 20 10277623 10277623 G C SNP SNAP25 ENST00000254976 human ensembl 69_37n +1 known missense c.332 p.G111A 1.000 pfam_SNAP-25 pfam_T_SNARE_dom,pfam_SNAP-25,superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors SNAP25 HGNC ENSG00000132639 62 0 0.00 41 7 14.58 - - - SQLE 0 genome.wustl.edu 37 8 126021464 126021464 + Silent SNP G G C TCGA-AO-A0JE-01A-11W-A071-09 TCGA-AO-A0JE-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4f311714-ebb4-47fb-b471-62c6951d9066 f08265fa-cf7d-4d5b-a516-a319b0595cc1 8 126021464 126021464 G C SNP SQLE ENST00000265896 human ensembl 69_37n +1 known silent c.987 p.P329 0.044 pfam_Squalene_epoxidase,pfam_mOase_FAD-bd pfam_Squalene_epoxidase,pfam_mOase_FAD-bd,pfam_Pyr_OxRdtase_NAD-bd_dom,prints_Rng_hydrolase-like - no_errors SQLE HGNC ENSG00000104549 186 0 0.00 172 57 24.89 - - - TREML1 0 genome.wustl.edu 37 6 41121613 41121613 + Missense_Mutation SNP G G T TCGA-AO-A0JE-01A-11W-A071-09 TCGA-AO-A0JE-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4f311714-ebb4-47fb-b471-62c6951d9066 f08265fa-cf7d-4d5b-a516-a319b0595cc1 6 41121613 41121613 G T SNP TREML1 ENST00000426005 human ensembl 69_37n -1 known missense c.259 p.L87M 1.000 pfam_Ig_V-set pfam_Ig_V-set - no_errors TREML1 HGNC ENSG00000161911 69 0 0.00 26 4 13.33 - - - TRIM5 0 genome.wustl.edu 37 11 5686165 5686165 + Silent SNP G G A TCGA-AO-A0JE-01A-11W-A071-09 TCGA-AO-A0JE-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4f311714-ebb4-47fb-b471-62c6951d9066 f08265fa-cf7d-4d5b-a516-a319b0595cc1 11 5686165 5686165 G A SNP TRIM5 ENST00000305836 human ensembl 69_37n -1 known silent c.1356 p.F452 0.923 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM5 HGNC ENSG00000132256 247 0 0.00 219 59 21.22 - - - TTN 0 genome.wustl.edu 37 2 179466427 179466427 + Missense_Mutation SNP T T C TCGA-AO-A0JE-01A-11W-A071-09 TCGA-AO-A0JE-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4f311714-ebb4-47fb-b471-62c6951d9066 f08265fa-cf7d-4d5b-a516-a319b0595cc1 2 179466427 179466427 T C SNP TTN ENST00000342992 human ensembl 69_37n -1 known missense c.47686 p.K15896E 1.000 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like 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 251 0 0.00 139 44 24.04 - - - UNC79 0 genome.wustl.edu 37 14 94060170 94060170 + Missense_Mutation SNP G G A TCGA-AO-A0JE-01A-11W-A071-09 TCGA-AO-A0JE-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4f311714-ebb4-47fb-b471-62c6951d9066 f08265fa-cf7d-4d5b-a516-a319b0595cc1 14 94060170 94060170 G A SNP UNC79 ENST00000553484 human ensembl 69_37n +1 known missense c.3177 p.M1059I 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors UNC79 HGNC ENSG00000133958 220 0 0.00 116 64 35.36 - - - VWCE 0 genome.wustl.edu 37 11 61044093 61044094 + Frame_Shift_Ins INS - - G TCGA-AO-A0JE-01A-11W-A071-09 TCGA-AO-A0JE-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4f311714-ebb4-47fb-b471-62c6951d9066 f08265fa-cf7d-4d5b-a516-a319b0595cc1 11 61044093 61044094 - G INS VWCE ENST00000335613 human ensembl 69_37n -1 known frame_shift_ins c.1467_1466 p.Q490fs 0.003:0.008 smart_VWC_out,smart_VWF_C pfam_VWF_C,pfam_EGF-like_Ca-bd,smart_EGF-like,smart_EGF-like_Ca-bd,smart_VWF_C,smart_VWC_out,pfscan_EG-like_dom,pfscan_VWF_C - no_errors VWCE HGNC ENSG00000167992 21 0 0.00 8 2 20.00 - - - WFDC5 0 genome.wustl.edu 37 20 43739335 43739335 + Missense_Mutation SNP G G A TCGA-AO-A0JE-01A-11W-A071-09 TCGA-AO-A0JE-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4f311714-ebb4-47fb-b471-62c6951d9066 f08265fa-cf7d-4d5b-a516-a319b0595cc1 20 43739335 43739335 G A SNP WFDC5 ENST00000307971 human ensembl 69_37n -1 known missense c.167 p.P56L 0.983 pfam_Whey_acidic_protein_4-diS_core,superfamily_Whey_acidic_protein_4-diS_core,smart_Whey_acidic_protein_4-diS_core pfam_Whey_acidic_protein_4-diS_core,superfamily_Whey_acidic_protein_4-diS_core,smart_Whey_acidic_protein_4-diS_core,prints_4-disulphide_core - no_errors WFDC5 HGNC ENSG00000175121 48 0 0.00 20 11 35.48 - - - ZNF572 0 genome.wustl.edu 37 8 125989495 125989495 + Missense_Mutation SNP C C G TCGA-AO-A0JE-01A-11W-A071-09 TCGA-AO-A0JE-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4f311714-ebb4-47fb-b471-62c6951d9066 f08265fa-cf7d-4d5b-a516-a319b0595cc1 8 125989495 125989495 C G SNP ZNF572 ENST00000319286 human ensembl 69_37n +1 known missense c.985 p.Q329E 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF572 HGNC ENSG00000180938 176 0 0.00 233 85 26.65 - - - ZNF587 0 genome.wustl.edu 37 19 58370864 58370864 + Missense_Mutation SNP C C T TCGA-AO-A0JE-01A-11W-A071-09 TCGA-AO-A0JE-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4f311714-ebb4-47fb-b471-62c6951d9066 f08265fa-cf7d-4d5b-a516-a319b0595cc1 19 58370864 58370864 C T SNP ZNF587 ENST00000339656 human ensembl 69_37n +1 known missense c.1084 p.R362C 0.126 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF587 HGNC ENSG00000198466 432 0 0.00 464 67 12.55 - - - ZNF620 0 genome.wustl.edu 37 3 40557522 40557522 + Nonsense_Mutation SNP C C G TCGA-AO-A0JE-01A-11W-A071-09 TCGA-AO-A0JE-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4f311714-ebb4-47fb-b471-62c6951d9066 f08265fa-cf7d-4d5b-a516-a319b0595cc1 3 40557522 40557522 C G SNP ZNF620 ENST00000314529 human ensembl 69_37n +1 known nonsense c.437 p.S146* 0.025 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF620 HGNC ENSG00000177842 86 0 0.00 45 15 25.00 - - -