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 ADAMTS6 0 genome.wustl.edu 37 5 64747993 64747993 + Missense_Mutation SNP T T C TCGA-B6-A0IN-01A-11W-A050-09 TCGA-B6-A0IN-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ee2c9198-cea3-4a54-b96b-834a70c30d2f a4819d1f-61d6-4804-89de-3a3867e8fbbc 5 64747993 64747993 T C SNP ADAMTS6 ENST00000381055 human ensembl 69_37n -1 known missense c.894 p.I298M 1.000 pfam_Peptidase_M12B,pfscan_Peptidase_M12B 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 85 0 0.00 77 20 20.62 - - - ADAMTS6 0 genome.wustl.edu 37 5 64747994 64747994 + Missense_Mutation SNP A A T TCGA-B6-A0IN-01A-11W-A050-09 TCGA-B6-A0IN-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ee2c9198-cea3-4a54-b96b-834a70c30d2f a4819d1f-61d6-4804-89de-3a3867e8fbbc 5 64747994 64747994 A T SNP ADAMTS6 ENST00000381055 human ensembl 69_37n -1 known missense c.893 p.I298K 1.000 pfam_Peptidase_M12B,pfscan_Peptidase_M12B 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 86 0 0.00 78 20 20.41 - - - AP1G2 0 genome.wustl.edu 37 14 24035346 24035346 + Missense_Mutation SNP C C T TCGA-B6-A0IN-01A-11W-A050-09 TCGA-B6-A0IN-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ee2c9198-cea3-4a54-b96b-834a70c30d2f a4819d1f-61d6-4804-89de-3a3867e8fbbc 14 24035346 24035346 C T SNP AP1G2 ENST00000308724 human ensembl 69_37n -1 known missense c.495 p.M165I 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP1_complex_gsu pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP1_complex_gsu,pfscan_Clathrin_g-adaptin_app - no_errors AP1G2 HGNC ENSG00000213983 106 0 0.00 43 8 15.69 - - - ATP12A 0 genome.wustl.edu 37 13 25281421 25281421 + Silent SNP C C T TCGA-B6-A0IN-01A-11W-A050-09 TCGA-B6-A0IN-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ee2c9198-cea3-4a54-b96b-834a70c30d2f a4819d1f-61d6-4804-89de-3a3867e8fbbc 13 25281421 25281421 C T SNP ATP12A ENST00000218548 human ensembl 69_37n +1 known silent c.2361 p.R787 1.000 tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_cation-exchng_asu,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP12A HGNC ENSG00000075673 153 0 0.00 51 16 23.88 - - - ATP5SL 0 genome.wustl.edu 37 19 41939224 41939224 + Silent SNP A A G TCGA-B6-A0IN-01A-11W-A050-09 TCGA-B6-A0IN-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ee2c9198-cea3-4a54-b96b-834a70c30d2f a4819d1f-61d6-4804-89de-3a3867e8fbbc 19 41939224 41939224 A G SNP ATP5SL ENST00000417807 human ensembl 69_37n -1 known silent c.567 p.G189 0.237 NULL NULL - no_errors ATP5SL HGNC ENSG00000105341 34 0 0.00 30 15 33.33 - - - BCMO1 0 genome.wustl.edu 37 16 81279117 81279117 + Nonsense_Mutation SNP C C T TCGA-B6-A0IN-01A-11W-A050-09 TCGA-B6-A0IN-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ee2c9198-cea3-4a54-b96b-834a70c30d2f a4819d1f-61d6-4804-89de-3a3867e8fbbc 16 81279117 81279117 C T SNP BCMO1 ENST00000425577 human ensembl 69_37n +1 known nonsense c.25 p.Q9* 0.852 NULL pfam_Carotenoid_Oase - no_errors BCMO1 HGNC ENSG00000135697 104 0 0.00 45 28 38.36 - - - BIN1 0 genome.wustl.edu 37 2 127806177 127806177 + Silent SNP G G A TCGA-B6-A0IN-01A-11W-A050-09 TCGA-B6-A0IN-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ee2c9198-cea3-4a54-b96b-834a70c30d2f a4819d1f-61d6-4804-89de-3a3867e8fbbc 2 127806177 127806177 G A SNP BIN1 ENST00000316724 human ensembl 69_37n -1 known silent c.1707 p.S569 0.075 pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_BAR_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,prints_Amphiphysin,prints_Amphiphysin_2,prints_SH3_domain - no_errors BIN1 HGNC ENSG00000136717 26 0 0.00 6 5 45.45 - - - C9orf43 0 genome.wustl.edu 37 9 116187645 116187646 + In_Frame_Ins INS - - GCA TCGA-B6-A0IN-01A-11W-A050-09 TCGA-B6-A0IN-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ee2c9198-cea3-4a54-b96b-834a70c30d2f a4819d1f-61d6-4804-89de-3a3867e8fbbc 9 116187645 116187646 - GCA INS C9orf43 ENST00000288462 human ensembl 69_37n +1 known in_frame_ins c.887_888 p.300in_frame_insQ 0.000:0.211 NULL NULL - no_errors C9orf43 HGNC ENSG00000157653 136 1 0.73 117 16 12.03 - - - CCDC136 0 genome.wustl.edu 37 7 128434806 128434806 + Silent SNP G G A TCGA-B6-A0IN-01A-11W-A050-09 TCGA-B6-A0IN-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ee2c9198-cea3-4a54-b96b-834a70c30d2f a4819d1f-61d6-4804-89de-3a3867e8fbbc 7 128434806 128434806 G A SNP CCDC136 ENST00000297788 human ensembl 69_37n +1 known silent c.330 p.Q110 1.000 NULL NULL - no_errors CCDC136 HGNC ENSG00000128596 48 0 0.00 33 6 15.38 - - - CCNT2 0 genome.wustl.edu 37 2 135676546 135676547 + Frame_Shift_Ins INS - - A TCGA-B6-A0IN-01A-11W-A050-09 TCGA-B6-A0IN-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ee2c9198-cea3-4a54-b96b-834a70c30d2f a4819d1f-61d6-4804-89de-3a3867e8fbbc 2 135676546 135676547 - A INS CCNT2 ENST00000264157 human ensembl 69_37n +1 known frame_shift_ins c.122_123 p.N42fs 1.000:1.000 pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNT2 HGNC ENSG00000082258 137 0 0.00 61 20 24.69 - - - CDCA7 0 genome.wustl.edu 37 2 174230273 174230273 + Missense_Mutation SNP G G A TCGA-B6-A0IN-01A-11W-A050-09 TCGA-B6-A0IN-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ee2c9198-cea3-4a54-b96b-834a70c30d2f a4819d1f-61d6-4804-89de-3a3867e8fbbc 2 174230273 174230273 G A SNP CDCA7 ENST00000306721 human ensembl 69_37n +1 known missense c.988 p.E330K 0.998 NULL pfam_Znf-4CXXC_R1 - no_errors CDCA7 HGNC ENSG00000144354 94 0 0.00 49 8 14.04 - - - CORO1B 0 genome.wustl.edu 37 11 67207618 67207619 + Frame_Shift_Ins INS - - C TCGA-B6-A0IN-01A-11W-A050-09 TCGA-B6-A0IN-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ee2c9198-cea3-4a54-b96b-834a70c30d2f a4819d1f-61d6-4804-89de-3a3867e8fbbc 11 67207618 67207619 - C INS CORO1B ENST00000341356 human ensembl 69_37n -1 known frame_shift_ins c.978_977 p.L327fs 0.996:1.000 pfam_DUF1900 pfam_DUF1900,pfam_DUF1899,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CORO1B HGNC ENSG00000172725 16 0 0.00 4 2 33.33 - - - CYB5R1 0 genome.wustl.edu 37 1 202935526 202935527 + RNA INS - - GT TCGA-B6-A0IN-01A-11W-A050-09 TCGA-B6-A0IN-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ee2c9198-cea3-4a54-b96b-834a70c30d2f a4819d1f-61d6-4804-89de-3a3867e8fbbc 1 202935526 202935527 - GT INS CYB5R1 ENST00000478009 human ensembl 69_37n -1 known rna NULL NULL 0.000:0.000 - - - no_errors CYB5R1 HGNC ENSG00000159348 26 0 0.00 9 3 25.00 - - - DMBT1 0 genome.wustl.edu 37 10 124402882 124402883 + Frame_Shift_Ins INS - - C TCGA-B6-A0IN-01A-11W-A050-09 TCGA-B6-A0IN-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ee2c9198-cea3-4a54-b96b-834a70c30d2f a4819d1f-61d6-4804-89de-3a3867e8fbbc 10 124402882 124402883 - C INS DMBT1 ENST00000368915 human ensembl 69_37n +1 known frame_shift_ins c.7597_7598 p.R2536fs 0.000:0.000 NULL pfam_Srcr_rcpt,pfam_CUB,pfam_Zona_pellucida_Endoglin/CD105,superfamily_Srcr_rcpt-rel,superfamily_CUB,smart_Srcr_rcpt-rel,smart_CUB,smart_Zona_pellucida_Endoglin/CD105,pfscan_CUB,pfscan_Srcr_rcpt,pfscan_Zona_pellucida_Endoglin/CD105,prints_Srcr_rcpt - no_errors DMBT1 HGNC ENSG00000187908 57 0 0.00 25 4 13.79 - - - EIF2AK3 0 genome.wustl.edu 37 2 88857363 88857364 + Frame_Shift_Ins INS - - C TCGA-B6-A0IN-01A-11W-A050-09 TCGA-B6-A0IN-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ee2c9198-cea3-4a54-b96b-834a70c30d2f a4819d1f-61d6-4804-89de-3a3867e8fbbc 2 88857363 88857364 - C INS EIF2AK3 ENST00000303236 human ensembl 69_37n -1 known frame_shift_ins c.3242_3241 p.D1081fs 1.000:1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Quinonprotein_ADH-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors EIF2AK3 HGNC ENSG00000172071 430 0 0.00 227 62 21.45 - - - FANCA 0 genome.wustl.edu 37 16 89836576 89836576 + Frame_Shift_Del DEL G G - TCGA-B6-A0IN-01A-11W-A050-09 TCGA-B6-A0IN-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ee2c9198-cea3-4a54-b96b-834a70c30d2f a4819d1f-61d6-4804-89de-3a3867e8fbbc 16 89836576 89836576 G - DEL FANCA ENST00000389301 human ensembl 69_37n -1 known frame_shift_del c.2314 p.Q772fs 1.000 NULL pfam_Fanconia,prints_Fanconia - no_errors FANCA HGNC ENSG00000187741 45 0 0.00 14 2 12.50 - - - GATA3 0 genome.wustl.edu 37 10 8115960 8115961 + Frame_Shift_Ins INS - - C TCGA-B6-A0IN-01A-11W-A050-09 TCGA-B6-A0IN-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ee2c9198-cea3-4a54-b96b-834a70c30d2f a4819d1f-61d6-4804-89de-3a3867e8fbbc 10 8115960 8115961 - C INS GATA3 ENST00000379328 human ensembl 69_37n +1 known frame_shift_ins c.1309_1310 p.S438fs 1.000:1.000 pirsf_TF_GATA-1/2/3 pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA - no_errors GATA3 HGNC ENSG00000107485 72 0 0.00 37 23 38.33 - - - GIPC3 0 genome.wustl.edu 37 19 3590123 3590123 + Frame_Shift_Del DEL T T - TCGA-B6-A0IN-01A-11W-A050-09 TCGA-B6-A0IN-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ee2c9198-cea3-4a54-b96b-834a70c30d2f a4819d1f-61d6-4804-89de-3a3867e8fbbc 19 3590123 3590123 T - DEL GIPC3 ENST00000322315 human ensembl 69_37n +1 known frame_shift_del c.874 p.F292fs 1.000 pirsf_UCP038083_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_UCP038083_PDZ,pfscan_PDZ - no_errors GIPC3 HGNC ENSG00000179855 41 0 0.00 11 2 15.38 - - - GPC5 0 genome.wustl.edu 37 13 92345973 92345973 + Silent SNP G G A TCGA-B6-A0IN-01A-11W-A050-09 TCGA-B6-A0IN-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ee2c9198-cea3-4a54-b96b-834a70c30d2f a4819d1f-61d6-4804-89de-3a3867e8fbbc 13 92345973 92345973 G A SNP GPC5 ENST00000377067 human ensembl 69_37n +1 known silent c.858 p.A286 0.060 pfam_Glypican pfam_Glypican - no_errors GPC5 HGNC ENSG00000179399 92 0 0.00 43 8 15.69 - - - HMGN2P46 0 genome.wustl.edu 37 15 45848230 45848231 + RNA INS - - T TCGA-B6-A0IN-01A-11W-A050-09 TCGA-B6-A0IN-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ee2c9198-cea3-4a54-b96b-834a70c30d2f a4819d1f-61d6-4804-89de-3a3867e8fbbc 15 45848230 45848231 - T INS HMGN2P46 ENST00000313559 human ensembl 69_37n +1 known rna NULL NULL 0.997:0.997 - - - no_errors HMGN2P46 HGNC ENSG00000179362 9 0 0.00 3 2 40.00 - - - IGHM 0 genome.wustl.edu 37 14 106322070 106322070 + Missense_Mutation SNP T T A TCGA-B6-A0IN-01A-11W-A050-09 TCGA-B6-A0IN-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ee2c9198-cea3-4a54-b96b-834a70c30d2f a4819d1f-61d6-4804-89de-3a3867e8fbbc 14 106322070 106322070 T A SNP IGHM ENST00000390559 human ensembl 69_37n -1 known missense c.254 p.H85L 0.004 pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like pfam_Ig_C1-set,pfam_CD80_C2-set,pfam_Immunoglobulin,smart_Ig_C1-set,pfscan_Ig-like - no_start_codon IGHM HGNC ENSG00000211899 75 0 0.00 24 11 31.43 - - - KIAA0913 0 genome.wustl.edu 37 10 75545602 75545603 + Frame_Shift_Ins INS - - G TCGA-B6-A0IN-01A-11W-A050-09 TCGA-B6-A0IN-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ee2c9198-cea3-4a54-b96b-834a70c30d2f a4819d1f-61d6-4804-89de-3a3867e8fbbc 10 75545602 75545603 - G INS KIAA0913 ENST00000446546 human ensembl 69_37n +1 known frame_shift_ins c.220_221 p.T77fs 1.000:1.000 NULL pfscan_Znf_SWIM - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region KIAA0913 HGNC ENSG00000214655 11 0 0.00 4 3 42.86 - - - LPHN3 0 genome.wustl.edu 37 4 62935938 62935938 + Missense_Mutation SNP T T G TCGA-B6-A0IN-01A-11W-A050-09 TCGA-B6-A0IN-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ee2c9198-cea3-4a54-b96b-834a70c30d2f a4819d1f-61d6-4804-89de-3a3867e8fbbc 4 62935938 62935938 T G SNP LPHN3 ENST00000507625 human ensembl 69_37n +1 known missense c.3899 p.V1300G 1.000 pfam_GPCR_2_latrophilin_rcpt_C pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like - no_errors LPHN3 HGNC ENSG00000150471 63 0 0.00 25 16 39.02 - - - LRRC4B 0 genome.wustl.edu 37 19 51022088 51022088 + Silent SNP G G A TCGA-B6-A0IN-01A-11W-A050-09 TCGA-B6-A0IN-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ee2c9198-cea3-4a54-b96b-834a70c30d2f a4819d1f-61d6-4804-89de-3a3867e8fbbc 19 51022088 51022088 G A SNP LRRC4B ENST00000389201 human ensembl 69_37n -1 known silent c.882 p.H294 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LRRC4B HGNC ENSG00000131409 36 0 0.00 16 5 23.81 - - - MAML3 0 genome.wustl.edu 37 4 140811111 140811111 + Silent SNP C C T TCGA-B6-A0IN-01A-11W-A050-09 TCGA-B6-A0IN-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ee2c9198-cea3-4a54-b96b-834a70c30d2f a4819d1f-61d6-4804-89de-3a3867e8fbbc 4 140811111 140811111 C T SNP MAML3 ENST00000509479 human ensembl 69_37n -1 known silent c.1479 p.Q493 1.000 NULL pfam_Neuroggenic_mastermind-like_N - no_errors MAML3 HGNC ENSG00000196782 91 0 0.00 83 18 17.82 - - - MST1 0 genome.wustl.edu 37 3 49722497 49722498 + Frame_Shift_Ins INS - - C TCGA-B6-A0IN-01A-11W-A050-09 TCGA-B6-A0IN-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ee2c9198-cea3-4a54-b96b-834a70c30d2f a4819d1f-61d6-4804-89de-3a3867e8fbbc 3 49722497 49722498 - C INS MST1 ENST00000449682 human ensembl 69_37n -1 known frame_shift_ins c.1570_1569 p.S523fs 0.997:0.333 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A pfam_Kringle,pfam_Peptidase_S1_S6,pfam_PAN-1_domain,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1_S6,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors MST1 HGNC ENSG00000173531 13 0 0.00 4 2 33.33 - - - MTR 0 genome.wustl.edu 37 1 236959013 236959013 + Missense_Mutation SNP G G A TCGA-B6-A0IN-01A-11W-A050-09 TCGA-B6-A0IN-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ee2c9198-cea3-4a54-b96b-834a70c30d2f a4819d1f-61d6-4804-89de-3a3867e8fbbc 1 236959013 236959013 G A SNP MTR ENST00000366577 human ensembl 69_37n +1 known missense c.10 p.A4T 0.159 NULL pfam_S_MeTrfase,pfam_VitB12-dep_Met_synth_activ_dom,pfam_Pterin-binding,pfam_Cbl-bd_cap,pfam_Cobalamin-bd,superfamily_VitB12-dep_Met_synth_activ_dom,superfamily_S_MeTrfase,superfamily_Dihydropteroate_synth-like,superfamily_Cobalamin-bd,superfamily_Cbl-bd_cap,pirsf_MetH,pfscan_VitB12-dep_Met_synth_activ_dom,pfscan_S_MeTrfase,pfscan_Pterin-binding,tigrfam_MetH - no_errors MTR HGNC ENSG00000116984 45 0 0.00 21 8 27.59 - - - OR51A7 0 genome.wustl.edu 37 11 4929530 4929530 + Missense_Mutation SNP G G T TCGA-B6-A0IN-01A-11W-A050-09 TCGA-B6-A0IN-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ee2c9198-cea3-4a54-b96b-834a70c30d2f a4819d1f-61d6-4804-89de-3a3867e8fbbc 11 4929530 4929530 G T SNP OR51A7 ENST00000359350 human ensembl 69_37n +1 known missense c.931 p.G311W 0.006 NULL pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR51A7 HGNC ENSG00000176895 90 0 0.00 38 19 33.33 - - - PARP3 0 genome.wustl.edu 37 3 51981815 51981815 + Missense_Mutation SNP C C A TCGA-B6-A0IN-01A-11W-A050-09 TCGA-B6-A0IN-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ee2c9198-cea3-4a54-b96b-834a70c30d2f a4819d1f-61d6-4804-89de-3a3867e8fbbc 3 51981815 51981815 C A SNP PARP3 ENST00000398755 human ensembl 69_37n +1 known missense c.1357 p.L453M 0.883 pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom pfam_Poly(ADP-ribose)pol_cat_dom,pfam_Poly(ADP-ribose)pol_reg_dom,pfam_WGR_domain,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_WGR_domain,smart_WGR_domain,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom - no_errors PARP3 HGNC ENSG00000041880 201 0 0.00 130 38 22.62 - - - PCDHGA11 0 genome.wustl.edu 37 5 140801563 140801564 + In_Frame_Ins INS - - AGG TCGA-B6-A0IN-01A-11W-A050-09 TCGA-B6-A0IN-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ee2c9198-cea3-4a54-b96b-834a70c30d2f a4819d1f-61d6-4804-89de-3a3867e8fbbc 5 140801563 140801564 - AGG INS PCDHGA11 ENST00000398587 human ensembl 69_37n +1 known in_frame_ins c.769_770 p.S257in_frame_insKG 0.115:0.122 pfam_Cadherin,superfamily_Cadherin-like,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHGA11 HGNC ENSG00000253873 49 0 0.00 29 15 34.09 - - - PRKG2 0 genome.wustl.edu 37 4 82074711 82074711 + Splice_Site SNP T T A TCGA-B6-A0IN-01A-11W-A050-09 TCGA-B6-A0IN-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ee2c9198-cea3-4a54-b96b-834a70c30d2f a4819d1f-61d6-4804-89de-3a3867e8fbbc 4 82074711 82074711 T A SNP PRKG2 ENST00000545647 human ensembl 69_37n -1 known splice_site c.1-2 e1-2 0.001 - - - no_errors PRKG2 HGNC ENSG00000138669 35 0 0.00 25 10 28.57 - - - RARB 0 genome.wustl.edu 37 3 25542800 25542800 + Missense_Mutation SNP G G A TCGA-B6-A0IN-01A-11W-A050-09 TCGA-B6-A0IN-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ee2c9198-cea3-4a54-b96b-834a70c30d2f a4819d1f-61d6-4804-89de-3a3867e8fbbc 3 25542800 25542800 G A SNP RARB ENST00000404969 human ensembl 69_37n +1 known missense c.455 p.G152E 1.000 pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_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,pfscan_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Nuc_orph_rcpt,prints_Retinoid-X_rcpt/HNF4 - no_errors RARB HGNC ENSG00000077092 162 0 0.00 73 35 31.82 - - - ROCK1 0 genome.wustl.edu 37 18 18586384 18586384 + Nonsense_Mutation SNP G G A TCGA-B6-A0IN-01A-11W-A050-09 TCGA-B6-A0IN-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ee2c9198-cea3-4a54-b96b-834a70c30d2f a4819d1f-61d6-4804-89de-3a3867e8fbbc 18 18586384 18586384 G A SNP ROCK1 ENST00000399799 human ensembl 69_37n -1 known nonsense c.1813 p.Q605* 1.000 pirsf_Rho-assoc_coiled-coil_kinase pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Rho-bd,pfam_HR1_rho-bd,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Rho-assoc_coiled-coil_kinase,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom - no_errors ROCK1 HGNC ENSG00000067900 536 0 0.00 269 195 41.94 - - - SHPRH 0 genome.wustl.edu 37 6 146262775 146262776 + Frame_Shift_Ins INS - - C TCGA-B6-A0IN-01A-11W-A050-09 TCGA-B6-A0IN-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ee2c9198-cea3-4a54-b96b-834a70c30d2f a4819d1f-61d6-4804-89de-3a3867e8fbbc 6 146262775 146262776 - C INS SHPRH ENST00000367503 human ensembl 69_37n -1 known frame_shift_ins c.2474_2473 p.E825fs 1.000:1.000 pfam_SNF2_N,smart_Helicase_ATP-bd pfam_SNF2_N,pfam_Histone_H1/H5,superfamily_Znf_FYVE_PHD,superfamily_WW_Rsp5_WWP,smart_Helicase_ATP-bd,smart_Histone_H1/H5,smart_Znf_PHD,smart_Znf_RING,smart_Helicase_C,pfscan_Znf_RING,pfscan_Helicase_C - no_errors SHPRH HGNC ENSG00000146414 44 0 0.00 14 4 22.22 - - - SLC20A2 0 genome.wustl.edu 37 8 42297142 42297142 + Nonsense_Mutation SNP G G A TCGA-B6-A0IN-01A-11W-A050-09 TCGA-B6-A0IN-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ee2c9198-cea3-4a54-b96b-834a70c30d2f a4819d1f-61d6-4804-89de-3a3867e8fbbc 8 42297142 42297142 G A SNP SLC20A2 ENST00000342228 human ensembl 69_37n -1 known nonsense c.760 p.R254* 0.017 pfam_Phos_transporter pfam_Phos_transporter - no_errors SLC20A2 HGNC ENSG00000168575 146 0 0.00 60 19 24.05 - - - SNCAIP 0 genome.wustl.edu 37 5 121726839 121726839 + Missense_Mutation SNP C C T TCGA-B6-A0IN-01A-11W-A050-09 TCGA-B6-A0IN-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ee2c9198-cea3-4a54-b96b-834a70c30d2f a4819d1f-61d6-4804-89de-3a3867e8fbbc 5 121726839 121726839 C T SNP SNCAIP ENST00000379533 human ensembl 69_37n +1 known missense c.10 p.P4S 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors SNCAIP HGNC ENSG00000064692 281 0 0.00 205 42 17.00 - - - SP3 0 genome.wustl.edu 37 2 174819671 174819674 + Frame_Shift_Del DEL TGTT TGTT - TCGA-B6-A0IN-01A-11W-A050-09 TCGA-B6-A0IN-10A-01W-A055-09 TGTT TGTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ee2c9198-cea3-4a54-b96b-834a70c30d2f a4819d1f-61d6-4804-89de-3a3867e8fbbc 2 174819671 174819674 TGTT - DEL SP3 ENST00000310015 human ensembl 69_37n -1 known frame_shift_del c.1569_1566 p.T523fs 1.000:1.000:1.000:1.000 NULL pfam_Znf_C2H2,superfamily_Galactose-bd-like,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SP3 HGNC ENSG00000172845 86 0 0.00 52 12 18.75 - - - SVIL 0 genome.wustl.edu 37 10 29762771 29762772 + Frame_Shift_Ins INS - - C TCGA-B6-A0IN-01A-11W-A050-09 TCGA-B6-A0IN-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ee2c9198-cea3-4a54-b96b-834a70c30d2f a4819d1f-61d6-4804-89de-3a3867e8fbbc 10 29762771 29762772 - C INS SVIL ENST00000355867 human ensembl 69_37n -1 known frame_shift_ins c.5525_5524 p.A1842fs 1.000:0.998 pfam_Gelsolin_dom,smart_Gelsolin pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Gelsolin - no_errors SVIL HGNC ENSG00000197321 41 0 0.00 20 3 13.04 - - - TCEB3 0 genome.wustl.edu 37 1 24078341 24078342 + Frame_Shift_Del DEL CC CC - TCGA-B6-A0IN-01A-11W-A050-09 TCGA-B6-A0IN-10A-01W-A055-09 CC CC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ee2c9198-cea3-4a54-b96b-834a70c30d2f a4819d1f-61d6-4804-89de-3a3867e8fbbc 1 24078341 24078342 CC - DEL TCEB3 ENST00000418390 human ensembl 69_37n +1 known frame_shift_del c.1324_1325 p.R443fs 1.000:1.000 NULL pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,pfscan_F-box_dom_cyclin-like - no_errors TCEB3 HGNC ENSG00000011007 32 0 0.00 49 122 71.35 - - - TIE1 0 genome.wustl.edu 37 1 43773137 43773137 + Silent SNP G G A TCGA-B6-A0IN-01A-11W-A050-09 TCGA-B6-A0IN-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ee2c9198-cea3-4a54-b96b-834a70c30d2f a4819d1f-61d6-4804-89de-3a3867e8fbbc 1 43773137 43773137 G A SNP TIE1 ENST00000372476 human ensembl 69_37n +1 known silent c.807 p.Q269 1.000 smart_EGF-like pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_EGF-like,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom - no_errors TIE1 HGNC ENSG00000066056 102 0 0.00 41 11 21.15 - - - TTN 0 genome.wustl.edu 37 2 179425252 179425252 + Missense_Mutation SNP G G T TCGA-B6-A0IN-01A-11W-A050-09 TCGA-B6-A0IN-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ee2c9198-cea3-4a54-b96b-834a70c30d2f a4819d1f-61d6-4804-89de-3a3867e8fbbc 2 179425252 179425252 G T SNP TTN ENST00000342992 human ensembl 69_37n -1 known missense c.77903 p.P25968H 0.992 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,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 103 0 0.00 35 15 30.00 - - - ZNF800 0 genome.wustl.edu 37 7 127026205 127026205 + Silent SNP A A G TCGA-B6-A0IN-01A-11W-A050-09 TCGA-B6-A0IN-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx ee2c9198-cea3-4a54-b96b-834a70c30d2f a4819d1f-61d6-4804-89de-3a3867e8fbbc 7 127026205 127026205 A G SNP ZNF800 ENST00000265827 human ensembl 69_37n -1 known silent c.66 p.Y22 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF800 HGNC ENSG00000048405 160 0 0.00 60 31 34.07 - - -