Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_Position End_Position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_File Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID chromosome_name start stop reference variant type gene_name transcript_name transcript_species transcript_source transcript_version strand transcript_status trv_type c_position amino_acid_change ucsc_cons domain all_domains deletion_substructures transcript_error default_gene_name gene_name_source ensembl_gene_id tier title header normal_ref_reads normal_var_reads normal_VAF tumor_ref_reads tumor_var_reads tumor_VAF EDEM3 0 genome.wustl.edu 37 1 184677466 184677466 + Missense_Mutation SNP T T C TCGA-BR-6709-01A-11D-1882-08 TCGA-BR-6709-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2971a8ef-a8bf-4f6b-9f8d-c3c15037a46e 9adfad1c-29d2-4781-9e71-8b756b46538e 1 184677466 184677466 T C SNP EDEM3 ENST00000318130 human ensembl 74_37 -1 known missense c.1858 p.I620V 0.948 NULL pfam_Glyco_hydro_47,pfam_Protease-assoc_domain,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 - no_errors EDEM3 HGNC ENSG00000116406 50 0 0 54 6 10 HMCN1 0 genome.wustl.edu 37 1 186024533 186024533 + Missense_Mutation SNP A A C TCGA-BR-6709-01A-11D-1882-08 TCGA-BR-6709-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2971a8ef-a8bf-4f6b-9f8d-c3c15037a46e 9adfad1c-29d2-4781-9e71-8b756b46538e 1 186024533 186024533 A C SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known missense c.6871 p.T2291P 0.057 pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors HMCN1 HGNC ENSG00000143341 67 0 0 60 15 20 HSPG2 0 genome.wustl.edu 37 1 22166044 22166044 + Splice_Site SNP C C T TCGA-BR-6709-01A-11D-1882-08 TCGA-BR-6709-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2971a8ef-a8bf-4f6b-9f8d-c3c15037a46e 9adfad1c-29d2-4781-9e71-8b756b46538e 1 22166044 22166044 C T SNP HSPG2 ENST00000374695 human ensembl 74_37 -1 known splice_site c.9710-1 e73-1 1.000 - - - no_errors HSPG2 HGNC ENSG00000142798 36 0 0 27 3 10 PTCH2 0 genome.wustl.edu 37 1 45293195 45293195 + Silent SNP G G A TCGA-BR-6709-01A-11D-1882-08 TCGA-BR-6709-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2971a8ef-a8bf-4f6b-9f8d-c3c15037a46e 9adfad1c-29d2-4781-9e71-8b756b46538e 1 45293195 45293195 G A SNP PTCH2 ENST00000372192 human ensembl 74_37 -1 known silent c.2250 p.A750 1.000 pfam_Patched,tigrfam_TM_rcpt_patched pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched - no_errors PTCH2 HGNC ENSG00000117425 70 0 0 41 11 21.1538 C1orf173 0 genome.wustl.edu 37 1 75038941 75038941 + Missense_Mutation SNP T T C TCGA-BR-6709-01A-11D-1882-08 TCGA-BR-6709-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2971a8ef-a8bf-4f6b-9f8d-c3c15037a46e 9adfad1c-29d2-4781-9e71-8b756b46538e 1 75038941 75038941 T C SNP C1orf173 ENST00000326665 human ensembl 74_37 -1 known missense c.2453 p.Q818R 0.000 NULL NULL - no_errors C1orf173 HGNC ENSG00000178965 145 0 0 126 19 13.1034 OR4X1 0 genome.wustl.edu 37 11 48285907 48285907 + Silent SNP G G T TCGA-BR-6709-01A-11D-1882-08 TCGA-BR-6709-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2971a8ef-a8bf-4f6b-9f8d-c3c15037a46e 9adfad1c-29d2-4781-9e71-8b756b46538e 11 48285907 48285907 G T SNP OR4X1 ENST00000320048 human ensembl 74_37 +1 known silent c.495 p.P165 0.011 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4X1 HGNC ENSG00000176567 78 0 0 57 11 16.1765 CTSW 0 genome.wustl.edu 37 11 65648922 65648922 + Missense_Mutation SNP G G A TCGA-BR-6709-01A-11D-1882-08 TCGA-BR-6709-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2971a8ef-a8bf-4f6b-9f8d-c3c15037a46e 9adfad1c-29d2-4781-9e71-8b756b46538e 11 65648922 65648922 G A SNP CTSW ENST00000307886 human ensembl 74_37 +1 known missense c.217 p.A73T 0.993 pfam_Prot_inhib_I29,smart_Prot_inhib_I29 pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C - no_errors CTSW HGNC ENSG00000172543 617 0 0 505 598 54.2158 CTSW 0 genome.wustl.edu 37 11 65649650 65649650 + Silent SNP G G A TCGA-BR-6709-01A-11D-1882-08 TCGA-BR-6709-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2971a8ef-a8bf-4f6b-9f8d-c3c15037a46e 9adfad1c-29d2-4781-9e71-8b756b46538e 11 65649650 65649650 G A SNP CTSW ENST00000307886 human ensembl 74_37 +1 known silent c.291 p.E97 0.994 pfam_Prot_inhib_I29,smart_Prot_inhib_I29 pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C - no_errors CTSW HGNC ENSG00000172543 71 0 0 82 60 42.2535 CTSW 0 genome.wustl.edu 37 11 65649723 65649723 + Missense_Mutation SNP G G A TCGA-BR-6709-01A-11D-1882-08 TCGA-BR-6709-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2971a8ef-a8bf-4f6b-9f8d-c3c15037a46e 9adfad1c-29d2-4781-9e71-8b756b46538e 11 65649723 65649723 G A SNP CTSW ENST00000307886 human ensembl 74_37 +1 known missense c.364 p.E122K 0.001 NULL pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C - no_errors CTSW HGNC ENSG00000172543 110 0 0 109 79 42.0213 EED 0 genome.wustl.edu 37 11 85988118 85988118 + Nonsense_Mutation SNP C C T TCGA-BR-6709-01A-11D-1882-08 TCGA-BR-6709-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2971a8ef-a8bf-4f6b-9f8d-c3c15037a46e 9adfad1c-29d2-4781-9e71-8b756b46538e 11 85988118 85988118 C T SNP EED ENST00000263360 human ensembl 74_37 +1 known nonsense c.1063 p.R355* 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EED HGNC ENSG00000074266 109 0 0 82 6 6.81818 CACNA1C 0 genome.wustl.edu 37 12 2566826 2566826 + Silent SNP G G A TCGA-BR-6709-01A-11D-1882-08 TCGA-BR-6709-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2971a8ef-a8bf-4f6b-9f8d-c3c15037a46e 9adfad1c-29d2-4781-9e71-8b756b46538e 12 2566826 2566826 G A SNP CACNA1C ENST00000399634 human ensembl 74_37 +1 known silent c.711 p.R237 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1C HGNC ENSG00000151067 381 0 0 1396 102 6.80908 SYT10 0 genome.wustl.edu 37 12 33535294 33535294 + Missense_Mutation SNP C C T TCGA-BR-6709-01A-11D-1882-08 TCGA-BR-6709-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2971a8ef-a8bf-4f6b-9f8d-c3c15037a46e 9adfad1c-29d2-4781-9e71-8b756b46538e 12 33535294 33535294 C T SNP SYT10 ENST00000228567 human ensembl 74_37 -1 known missense c.1360 p.D454N 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin,prints_C2_dom - no_errors SYT10 HGNC ENSG00000110975 79 0 0 302 28 8.48485 CCDC65 0 genome.wustl.edu 37 12 49315051 49315051 + Missense_Mutation SNP A A G TCGA-BR-6709-01A-11D-1882-08 TCGA-BR-6709-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2971a8ef-a8bf-4f6b-9f8d-c3c15037a46e 9adfad1c-29d2-4781-9e71-8b756b46538e 12 49315051 49315051 A G SNP CCDC65 ENST00000266984 human ensembl 74_37 +1 known missense c.1280 p.D427G 0.010 NULL NULL - no_errors CCDC65 HGNC ENSG00000139537 67 0 0 67 12 15.1899 DCLK1 0 genome.wustl.edu 37 13 36445384 36445384 + Missense_Mutation SNP T T C TCGA-BR-6709-01A-11D-1882-08 TCGA-BR-6709-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2971a8ef-a8bf-4f6b-9f8d-c3c15037a46e 9adfad1c-29d2-4781-9e71-8b756b46538e 13 36445384 36445384 T C SNP DCLK1 ENST00000360631 human ensembl 74_37 -1 known missense c.917 p.K306R 1.000 NULL pfam_Prot_kinase_dom,pfam_Doublecortin_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Doublecortin_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Doublecortin_dom,pfscan_Prot_kinase_dom - no_errors DCLK1 HGNC ENSG00000133083 170 0 0 103 30 22.5564 CTAGE5 0 genome.wustl.edu 37 14 39818102 39818102 + Silent SNP T T C TCGA-BR-6709-01A-11D-1882-08 TCGA-BR-6709-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2971a8ef-a8bf-4f6b-9f8d-c3c15037a46e 9adfad1c-29d2-4781-9e71-8b756b46538e 14 39818102 39818102 T C SNP CTAGE5 ENST00000396158 human ensembl 74_37 +1 known silent c.2184 p.P728 1.000 NULL NULL - no_errors CTAGE5 HGNC ENSG00000150527 232 2 0.854701 133 36 21.3018 PPP1R36 0 genome.wustl.edu 37 14 65054868 65054868 + Missense_Mutation SNP C C T TCGA-BR-6709-01A-11D-1882-08 TCGA-BR-6709-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2971a8ef-a8bf-4f6b-9f8d-c3c15037a46e 9adfad1c-29d2-4781-9e71-8b756b46538e 14 65054868 65054868 C T SNP PPP1R36 ENST00000298705 human ensembl 74_37 +1 known missense c.937 p.R313C 1.000 NULL NULL - no_errors PPP1R36 HGNC ENSG00000165807 167 1 0.595238 133 45 25.2809 PPP4R4 0 genome.wustl.edu 37 14 94718194 94718194 + Missense_Mutation SNP C C T TCGA-BR-6709-01A-11D-1882-08 TCGA-BR-6709-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2971a8ef-a8bf-4f6b-9f8d-c3c15037a46e 9adfad1c-29d2-4781-9e71-8b756b46538e 14 94718194 94718194 C T SNP PPP4R4 ENST00000304338 human ensembl 74_37 +1 known missense c.1826 p.P609L 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors PPP4R4 HGNC ENSG00000119698 59 0 0 51 3 5.55556 ADAMTS17 0 genome.wustl.edu 37 15 100514743 100514743 + Missense_Mutation SNP C C T TCGA-BR-6709-01A-11D-1882-08 TCGA-BR-6709-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2971a8ef-a8bf-4f6b-9f8d-c3c15037a46e 9adfad1c-29d2-4781-9e71-8b756b46538e 15 100514743 100514743 C T SNP ADAMTS17 ENST00000268070 human ensembl 74_37 -1 known missense c.3152 p.R1051Q 1.000 pfam_PLAC,pfscan_PLAC pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS17 HGNC ENSG00000140470 117 0 0 94 13 12.1495 UNC13C 0 genome.wustl.edu 37 15 54586215 54586215 + Missense_Mutation SNP T T A TCGA-BR-6709-01A-11D-1882-08 TCGA-BR-6709-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2971a8ef-a8bf-4f6b-9f8d-c3c15037a46e 9adfad1c-29d2-4781-9e71-8b756b46538e 15 54586215 54586215 T A SNP UNC13C ENST00000260323 human ensembl 74_37 +1 known missense c.3941 p.V1314E 1.000 superfamily_C2_dom,smart_C2_dom pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13C HGNC ENSG00000137766 250 0 0 238 14 5.55556 PAFAH1B1 0 genome.wustl.edu 37 17 2576045 2576045 + Missense_Mutation SNP A A G TCGA-BR-6709-01A-11D-1882-08 TCGA-BR-6709-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2971a8ef-a8bf-4f6b-9f8d-c3c15037a46e 9adfad1c-29d2-4781-9e71-8b756b46538e 17 2576045 2576045 A G SNP PAFAH1B1 ENST00000397195 human ensembl 74_37 +1 known missense c.665 p.Q222R 1.000 superfamily_WD40_repeat_dom,pirsf_Dynein_regulator_LIS1,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_LisH_dimerisation_subgr,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_WD40_repeat,pirsf_Dynein_regulator_LIS1,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors PAFAH1B1 HGNC ENSG00000007168 33 0 0 16 6 27.2727 DCC 0 genome.wustl.edu 37 18 50731695 50731695 + Nonsense_Mutation SNP C C G TCGA-BR-6709-01A-11D-1882-08 TCGA-BR-6709-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2971a8ef-a8bf-4f6b-9f8d-c3c15037a46e 9adfad1c-29d2-4781-9e71-8b756b46538e 18 50731695 50731695 C G SNP DCC ENST00000442544 human ensembl 74_37 +1 known nonsense c.1683 p.Y561* 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DCC HGNC ENSG00000187323 219 0 0 177 39 18.0556 DSEL 0 genome.wustl.edu 37 18 65179389 65179389 + Silent SNP C C T TCGA-BR-6709-01A-11D-1882-08 TCGA-BR-6709-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2971a8ef-a8bf-4f6b-9f8d-c3c15037a46e 9adfad1c-29d2-4781-9e71-8b756b46538e 18 65179389 65179389 C T SNP DSEL ENST00000310045 human ensembl 74_37 -1 known silent c.2487 p.V829 0.984 NULL pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,superfamily_Chondroitin_lyas - no_errors DSEL HGNC ENSG00000171451 190 0 0 149 8 5.09554 LDLR 0 genome.wustl.edu 37 19 11218068 11218068 + Missense_Mutation SNP T T G TCGA-BR-6709-01A-11D-1882-08 TCGA-BR-6709-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2971a8ef-a8bf-4f6b-9f8d-c3c15037a46e 9adfad1c-29d2-4781-9e71-8b756b46538e 19 11218068 11218068 T G SNP LDLR ENST00000558518 human ensembl 74_37 +1 known missense c.818 p.V273G 1.000 superfamily_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LDLR HGNC ENSG00000130164 67 0 0 51 4 7.27273 ZNF559 0 genome.wustl.edu 37 19 9453327 9453327 + Missense_Mutation SNP G G T TCGA-BR-6709-01A-11D-1882-08 TCGA-BR-6709-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2971a8ef-a8bf-4f6b-9f8d-c3c15037a46e 9adfad1c-29d2-4781-9e71-8b756b46538e 19 9453327 9453327 G T SNP ZNF559 ENST00000393883 human ensembl 74_37 +1 known missense c.1200 p.M400I 0.002 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF559 HGNC ENSG00000188321 73 0 0 67 7 9.45946 ZNF559 0 genome.wustl.edu 37 19 9453328 9453328 + Nonsense_Mutation SNP C C T TCGA-BR-6709-01A-11D-1882-08 TCGA-BR-6709-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2971a8ef-a8bf-4f6b-9f8d-c3c15037a46e 9adfad1c-29d2-4781-9e71-8b756b46538e 19 9453328 9453328 C T SNP ZNF559 ENST00000393883 human ensembl 74_37 +1 known nonsense c.1201 p.Q401* 0.001 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF559 HGNC ENSG00000188321 72 0 0 67 7 9.45946 TTN 0 genome.wustl.edu 37 2 179463648 179463648 + Missense_Mutation SNP C C G TCGA-BR-6709-01A-11D-1882-08 TCGA-BR-6709-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2971a8ef-a8bf-4f6b-9f8d-c3c15037a46e 9adfad1c-29d2-4781-9e71-8b756b46538e 2 179463648 179463648 C G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.49085 p.R16362T 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,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_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_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 105 0 0 91 19 17.2727 KCNK3 0 genome.wustl.edu 37 2 26950984 26950984 + Missense_Mutation SNP C C T TCGA-BR-6709-01A-11D-1882-08 TCGA-BR-6709-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2971a8ef-a8bf-4f6b-9f8d-c3c15037a46e 9adfad1c-29d2-4781-9e71-8b756b46538e 2 26950984 26950984 C T SNP KCNK3 ENST00000302909 human ensembl 74_37 +1 known missense c.733 p.R245C 1.000 pfam_2pore_dom_K_chnl_dom,pirsf_2pore_dom_K_chnl_TASK pfam_2pore_dom_K_chnl_dom,pirsf_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl_TASK,prints_KCNK3,prints_2pore_dom_K_chnl - no_errors KCNK3 HGNC ENSG00000171303 17 0 0 16 4 20 POGLUT1 0 genome.wustl.edu 37 3 119207810 119207810 + Missense_Mutation SNP A A G TCGA-BR-6709-01A-11D-1882-08 TCGA-BR-6709-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2971a8ef-a8bf-4f6b-9f8d-c3c15037a46e 9adfad1c-29d2-4781-9e71-8b756b46538e 3 119207810 119207810 A G SNP POGLUT1 ENST00000295588 human ensembl 74_37 +1 known missense c.773 p.H258R 1.000 pfam_LipoPS_modifying,smart_LipoPS_modifying pfam_LipoPS_modifying,smart_LipoPS_modifying - no_errors POGLUT1 HGNC ENSG00000163389 53 0 0 56 14 20 ZBBX 0 genome.wustl.edu 37 3 167016191 167016191 + Missense_Mutation SNP A A C TCGA-BR-6709-01A-11D-1882-08 TCGA-BR-6709-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2971a8ef-a8bf-4f6b-9f8d-c3c15037a46e 9adfad1c-29d2-4781-9e71-8b756b46538e 3 167016191 167016191 A C SNP ZBBX ENST00000307529 human ensembl 74_37 -1 known missense c.1781 p.L594R 1.000 NULL pfam_Znf_B-box - no_errors ZBBX HGNC ENSG00000169064 147 0 0 112 19 14.5038 LIMD1 0 genome.wustl.edu 37 3 45637696 45637696 + Missense_Mutation SNP C C T TCGA-BR-6709-01A-11D-1882-08 TCGA-BR-6709-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2971a8ef-a8bf-4f6b-9f8d-c3c15037a46e 9adfad1c-29d2-4781-9e71-8b756b46538e 3 45637696 45637696 C T SNP LIMD1 ENST00000273317 human ensembl 74_37 +1 known missense c.1325 p.P442L 0.439 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LIMD1 HGNC ENSG00000144791 46 0 0 36 4 10 GNAI2 0 genome.wustl.edu 37 3 50294236 50294236 + Silent SNP C C T TCGA-BR-6709-01A-11D-1882-08 TCGA-BR-6709-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2971a8ef-a8bf-4f6b-9f8d-c3c15037a46e 9adfad1c-29d2-4781-9e71-8b756b46538e 3 50294236 50294236 C T SNP GNAI2 ENST00000313601 human ensembl 74_37 +1 known silent c.675 p.C225 0.033 pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I,prints_Fungi_Gprotein_alpha - no_errors GNAI2 HGNC ENSG00000114353 152 0 0 120 8 6.25 DCHS2 0 genome.wustl.edu 37 4 155158023 155158023 + Missense_Mutation SNP G G A TCGA-BR-6709-01A-11D-1882-08 TCGA-BR-6709-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2971a8ef-a8bf-4f6b-9f8d-c3c15037a46e 9adfad1c-29d2-4781-9e71-8b756b46538e 4 155158023 155158023 G A SNP DCHS2 ENST00000357232 human ensembl 74_37 -1 known missense c.6416 p.S2139L 0.013 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS2 HGNC ENSG00000197410 122 0 0 103 10 8.84956 SKP1 0 genome.wustl.edu 37 5 133502891 133502891 + Silent SNP T T C TCGA-BR-6709-01A-11D-1882-08 TCGA-BR-6709-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2971a8ef-a8bf-4f6b-9f8d-c3c15037a46e 9adfad1c-29d2-4781-9e71-8b756b46538e 5 133502891 133502891 T C SNP SKP1 ENST00000353411 human ensembl 74_37 -1 known silent c.141 p.L47 0.995 pfam_Skp1_comp_POZ,superfamily_BTB/POZ_fold,smart_Skp1_comp,pirsf_E3_ubiquit_lig_SCF_Skp pfam_Skp1_comp_dimer,pfam_Skp1_comp_POZ,superfamily_Skp1_comp_dimer,superfamily_BTB/POZ_fold,smart_Skp1_comp,pirsf_E3_ubiquit_lig_SCF_Skp - no_errors SKP1 HGNC ENSG00000113558 75 0 0 77 19 19.7917 HIVEP2 0 genome.wustl.edu 37 6 143091386 143091386 + Missense_Mutation SNP C C A TCGA-BR-6709-01A-11D-1882-08 TCGA-BR-6709-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2971a8ef-a8bf-4f6b-9f8d-c3c15037a46e 9adfad1c-29d2-4781-9e71-8b756b46538e 6 143091386 143091386 C A SNP HIVEP2 ENST00000012134 human ensembl 74_37 -1 known missense c.4490 p.R1497L 0.984 NULL pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP2 HGNC ENSG00000010818 114 0 0 114 19 14.2857 DEF6 0 genome.wustl.edu 37 6 35280239 35280239 + Missense_Mutation SNP G G A TCGA-BR-6709-01A-11D-1882-08 TCGA-BR-6709-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2971a8ef-a8bf-4f6b-9f8d-c3c15037a46e 9adfad1c-29d2-4781-9e71-8b756b46538e 6 35280239 35280239 G A SNP DEF6 ENST00000316637 human ensembl 74_37 +1 known missense c.584 p.R195Q 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DEF6 HGNC ENSG00000023892 90 0 0 77 16 17.2043 RINT1 0 genome.wustl.edu 37 7 105177188 105177188 + Missense_Mutation SNP G G C TCGA-BR-6709-01A-11D-1882-08 TCGA-BR-6709-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2971a8ef-a8bf-4f6b-9f8d-c3c15037a46e 9adfad1c-29d2-4781-9e71-8b756b46538e 7 105177188 105177188 G C SNP RINT1 ENST00000257700 human ensembl 74_37 +1 known missense c.265 p.E89Q 1.000 NULL pfam_RINT1_TIP1 - no_errors RINT1 HGNC ENSG00000135249 39 0 0 36 3 7.69231 SSPO 0 genome.wustl.edu 37 7 149489038 149489038 + RNA SNP G G A TCGA-BR-6709-01A-11D-1882-08 TCGA-BR-6709-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2971a8ef-a8bf-4f6b-9f8d-c3c15037a46e 9adfad1c-29d2-4781-9e71-8b756b46538e 7 149489038 149489038 G A SNP SSPO ENST00000262089 human ensembl 74_37 +1 known rna NULL NULL 0.022 - - - no_errors SSPO HGNC ENSG00000197558 51 0 0 32 6 15.7895 VPS41 0 genome.wustl.edu 37 7 38791832 38791832 + Missense_Mutation SNP C C T TCGA-BR-6709-01A-11D-1882-08 TCGA-BR-6709-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2971a8ef-a8bf-4f6b-9f8d-c3c15037a46e 9adfad1c-29d2-4781-9e71-8b756b46538e 7 38791832 38791832 C T SNP VPS41 ENST00000310301 human ensembl 74_37 -1 known missense c.1870 p.D624N 1.000 pfam_Clathrin_H-chain/VPS_repeat,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,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 163 0 0 135 22 14.0127 POR 0 genome.wustl.edu 37 7 75609838 75609838 + Missense_Mutation SNP G G T TCGA-BR-6709-01A-11D-1882-08 TCGA-BR-6709-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2971a8ef-a8bf-4f6b-9f8d-c3c15037a46e 9adfad1c-29d2-4781-9e71-8b756b46538e 7 75609838 75609838 G T SNP POR ENST00000450476 human ensembl 74_37 +1 known missense c.11 p.R4L 0.002 pfscan_Flavodoxin/NO_synth pfam_FAD-binding_1,pfam_OxRdtase_FAD/NAD-bd,pfam_Flavodoxin/NO_synth,superfamily_Riboflavin_synthase-like_b-brl,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors POR HGNC ENSG00000127948 107 0 0 82 13 13.6842 CALCR 0 genome.wustl.edu 37 7 93065271 93065271 + Missense_Mutation SNP T T C TCGA-BR-6709-01A-11D-1882-08 TCGA-BR-6709-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2971a8ef-a8bf-4f6b-9f8d-c3c15037a46e 9adfad1c-29d2-4781-9e71-8b756b46538e 7 93065271 93065271 T C SNP CALCR ENST00000359558 human ensembl 74_37 -1 known missense c.1244 p.H415R 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GCPR_2_calcitonin_rcpt_fam,prints_GPCR_2_secretin-like,prints_GPCR_2_calcitonin_rcpt pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GCPR_2_calcitonin_rcpt_fam,prints_GPCR_2_secretin-like,prints_GPCR_2_calcitonin_rcpt - no_errors CALCR HGNC ENSG00000004948 35 0 0 30 7 18.9189 CSMD3 0 genome.wustl.edu 37 8 113420594 113420594 + Missense_Mutation SNP G G T TCGA-BR-6709-01A-11D-1882-08 TCGA-BR-6709-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2971a8ef-a8bf-4f6b-9f8d-c3c15037a46e 9adfad1c-29d2-4781-9e71-8b756b46538e 8 113420594 113420594 G T SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.5558 p.T1853N 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 176 1 0.564972 207 25 10.7759 PPP1R42 0 genome.wustl.edu 37 8 67929951 67929951 + Missense_Mutation SNP C C A TCGA-BR-6709-01A-11D-1882-08 TCGA-BR-6709-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2971a8ef-a8bf-4f6b-9f8d-c3c15037a46e 9adfad1c-29d2-4781-9e71-8b756b46538e 8 67929951 67929951 C A SNP PPP1R42 ENST00000522909 human ensembl 74_37 -1 known missense c.32 p.R11I 0.324 NULL pfam_Leu-rich_rpt - no_errors PPP1R42 HGNC ENSG00000178125 65 0 0 81 5 5.81395 TMEM8B 0 genome.wustl.edu 37 9 35853171 35853171 + Missense_Mutation SNP A A G TCGA-BR-6709-01A-11D-1882-08 TCGA-BR-6709-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2971a8ef-a8bf-4f6b-9f8d-c3c15037a46e 9adfad1c-29d2-4781-9e71-8b756b46538e 9 35853171 35853171 A G SNP TMEM8B ENST00000377988 human ensembl 74_37 +1 known missense c.1000 p.M334V 1.000 pfam_DUF3522 pfam_DUF3522 - no_errors TMEM8B HGNC ENSG00000137103 257 0 0 416 34 7.55556 WWC3 0 genome.wustl.edu 37 X 10094279 10094279 + Missense_Mutation SNP C C T TCGA-BR-6709-01A-11D-1882-08 TCGA-BR-6709-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2971a8ef-a8bf-4f6b-9f8d-c3c15037a46e 9adfad1c-29d2-4781-9e71-8b756b46538e X 10094279 10094279 C T SNP WWC3 ENST00000380861 human ensembl 74_37 +1 known missense c.2039 p.A680V 0.000 superfamily_C2_dom superfamily_C2_dom - no_errors WWC3 HGNC ENSG00000047644 208 0 0 143 30 17.341 ZMYM3 0 genome.wustl.edu 37 X 70465871 70465871 + Missense_Mutation SNP G G C TCGA-BR-6709-01A-11D-1882-08 TCGA-BR-6709-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2971a8ef-a8bf-4f6b-9f8d-c3c15037a46e 9adfad1c-29d2-4781-9e71-8b756b46538e X 70465871 70465871 G C SNP ZMYM3 ENST00000373988 human ensembl 74_37 -1 known missense c.2656 p.Q886E 1.000 NULL pfam_Znf_MYM,pfam_DUF3504,smart_TRASH_dom - no_errors ZMYM3 HGNC ENSG00000147130 147 0 0 109 15 12.0968 MAN1A2 0 genome.wustl.edu 37 1 118039415 118039416 + Frame_Shift_Ins INS - - GT TCGA-BR-6709-01A-11D-1882-08 TCGA-BR-6709-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2971a8ef-a8bf-4f6b-9f8d-c3c15037a46e 9adfad1c-29d2-4781-9e71-8b756b46538e 1 118039415 118039416 - GT INS MAN1A2 ENST00000356554 human ensembl 74_37 +1 known frame_shift_ins c.1315_1316 p.G440fs 1.000:1.000 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 - no_errors MAN1A2 HGNC ENSG00000198162 135 0 0 128 16 11.1111