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 EPS8L3 0 genome.wustl.edu 37 1 110294652 110294652 + Missense_Mutation SNP G G A TCGA-BR-A4J4-01A-12D-A25D-08 TCGA-BR-A4J4-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e cf5a2a68-639d-4623-ad6c-71d061db302e 1 110294652 110294652 G A SNP EPS8L3 ENST00000369805 human ensembl 74_37 -1 known missense c.1402 p.R468W 0.966 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_PTB,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_SAM/pointed,smart_SH3_domain,pfscan_SH3_domain - no_errors EPS8L3 HGNC ENSG00000198758 191 0 0 108 31 22.3022 KCND3 0 genome.wustl.edu 37 1 112318860 112318860 + Missense_Mutation SNP G G C TCGA-BR-A4J4-01A-12D-A25D-08 TCGA-BR-A4J4-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e cf5a2a68-639d-4623-ad6c-71d061db302e 1 112318860 112318860 G C SNP KCND3 ENST00000315987 human ensembl 74_37 -1 known missense c.1807 p.P603A 1.000 prints_K_chnl_volt-dep_Kv4.3 pfam_K_chnl_volt-dep_Kv4_C,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Shal-type,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.3,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3 - no_errors KCND3 HGNC ENSG00000171385 77 0 0 42 10 19.2308 KCND3 0 genome.wustl.edu 37 1 112318869 112318869 + Missense_Mutation SNP C C T TCGA-BR-A4J4-01A-12D-A25D-08 TCGA-BR-A4J4-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e cf5a2a68-639d-4623-ad6c-71d061db302e 1 112318869 112318869 C T SNP KCND3 ENST00000315987 human ensembl 74_37 -1 known missense c.1798 p.G600R 1.000 prints_K_chnl_volt-dep_Kv4.3 pfam_K_chnl_volt-dep_Kv4_C,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Shal-type,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.3,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3 - no_errors KCND3 HGNC ENSG00000171385 73 0 0 40 10 20 FCRLA 0 genome.wustl.edu 37 1 161681755 161681755 + Silent SNP A A G TCGA-BR-A4J4-01A-12D-A25D-08 TCGA-BR-A4J4-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e cf5a2a68-639d-4623-ad6c-71d061db302e 1 161681755 161681755 A G SNP FCRLA ENST00000367959 human ensembl 74_37 +1 known silent c.600 p.V200 0.001 smart_Ig_sub,pfscan_Ig-like_dom smart_Ig_sub,pfscan_Ig-like_dom - no_errors FCRLA HGNC ENSG00000132185 380 0 0 196 60 23.4375 C1orf65 0 genome.wustl.edu 37 1 223568231 223568231 + Missense_Mutation SNP C C T TCGA-BR-A4J4-01A-12D-A25D-08 TCGA-BR-A4J4-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e cf5a2a68-639d-4623-ad6c-71d061db302e 1 223568231 223568231 C T SNP C1orf65 ENST00000366875 human ensembl 74_37 +1 known missense c.1414 p.R472C 0.000 NULL NULL - no_errors C1orf65 HGNC ENSG00000178395 73 0 0 29 11 27.5 TRIM67 0 genome.wustl.edu 37 1 231339757 231339757 + Missense_Mutation SNP G G A TCGA-BR-A4J4-01A-12D-A25D-08 TCGA-BR-A4J4-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e cf5a2a68-639d-4623-ad6c-71d061db302e 1 231339757 231339757 G A SNP TRIM67 ENST00000366652 human ensembl 74_37 +1 known missense c.1679 p.R560Q 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box - no_errors TRIM67 HGNC ENSG00000119283 74 0 0 44 12 21.4286 OR2M3 0 genome.wustl.edu 37 1 248366497 248366497 + Missense_Mutation SNP C C A TCGA-BR-A4J4-01A-12D-A25D-08 TCGA-BR-A4J4-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e cf5a2a68-639d-4623-ad6c-71d061db302e 1 248366497 248366497 C A SNP OR2M3 ENST00000456743 human ensembl 74_37 +1 known missense c.128 p.S43Y 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2M3 HGNC ENSG00000228198 446 0 0 291 89 23.4211 SH3BP5L 0 genome.wustl.edu 37 1 249108783 249108783 + Silent SNP C C T TCGA-BR-A4J4-01A-12D-A25D-08 TCGA-BR-A4J4-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e cf5a2a68-639d-4623-ad6c-71d061db302e 1 249108783 249108783 C T SNP SH3BP5L ENST00000366472 human ensembl 74_37 -1 known silent c.402 p.A134 0.005 pfam_SH3-bd_5 pfam_SH3-bd_5 - no_errors SH3BP5L HGNC ENSG00000175137 91 0 0 46 20 30.303 PRDM16 0 genome.wustl.edu 37 1 3322073 3322073 + Silent SNP C C T TCGA-BR-A4J4-01A-12D-A25D-08 TCGA-BR-A4J4-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e cf5a2a68-639d-4623-ad6c-71d061db302e 1 3322073 3322073 C T SNP PRDM16 ENST00000270722 human ensembl 74_37 +1 known silent c.1047 p.P349 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM16 HGNC ENSG00000142611 140 1 0.70922 77 5 6.09756 CLCA1 0 genome.wustl.edu 37 1 86965518 86965518 + Silent SNP G G A TCGA-BR-A4J4-01A-12D-A25D-08 TCGA-BR-A4J4-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e cf5a2a68-639d-4623-ad6c-71d061db302e 1 86965518 86965518 G A SNP CLCA1 ENST00000234701 human ensembl 74_37 +1 known silent c.2535 p.Q845 0.923 tigrfam_CaCC_prot pfam_Cl_channel_Ca,pfam_DUF1973,pfam_VWF_A,superfamily_Fibronectin_type3,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot - no_errors CLCA1 HGNC ENSG00000016490 168 0 0 171 44 20.4651 HSPA12A 0 genome.wustl.edu 37 10 118451920 118451920 + Missense_Mutation SNP G G A TCGA-BR-A4J4-01A-12D-A25D-08 TCGA-BR-A4J4-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e cf5a2a68-639d-4623-ad6c-71d061db302e 10 118451920 118451920 G A SNP HSPA12A ENST00000369209 human ensembl 74_37 -1 known missense c.605 p.T202M 1.000 NULL NULL - no_errors HSPA12A HGNC ENSG00000165868 409 0 0 173 45 20.6422 PHYH 0 genome.wustl.edu 37 10 13336443 13336443 + Nonsense_Mutation SNP G G T TCGA-BR-A4J4-01A-12D-A25D-08 TCGA-BR-A4J4-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e cf5a2a68-639d-4623-ad6c-71d061db302e 10 13336443 13336443 G T SNP PHYH ENST00000263038 human ensembl 74_37 -1 known nonsense c.399 p.Y133* 1.000 pfam_Phytyl_CoA_dOase pfam_Phytyl_CoA_dOase - no_errors PHYH HGNC ENSG00000107537 77 0 0 55 14 20.2899 CUBN 0 genome.wustl.edu 37 10 16990548 16990548 + Missense_Mutation SNP G G A TCGA-BR-A4J4-01A-12D-A25D-08 TCGA-BR-A4J4-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e cf5a2a68-639d-4623-ad6c-71d061db302e 10 16990548 16990548 G A SNP CUBN ENST00000377833 human ensembl 74_37 -1 known missense c.5138 p.T1713M 0.139 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors CUBN HGNC ENSG00000107611 55 0 0 31 9 22.5 RASSF4 0 genome.wustl.edu 37 10 45486417 45486417 + Missense_Mutation SNP G G T TCGA-BR-A4J4-01A-12D-A25D-08 TCGA-BR-A4J4-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e cf5a2a68-639d-4623-ad6c-71d061db302e 10 45486417 45486417 G T SNP RASSF4 ENST00000334940 human ensembl 74_37 +1 known missense c.734 p.C245F 0.012 pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SARAH_dom - no_errors RASSF4 HGNC ENSG00000107551 132 0 0 86 24 21.8182 CTNNA3 0 genome.wustl.edu 37 10 67726396 67726396 + Missense_Mutation SNP G G T TCGA-BR-A4J4-01A-12D-A25D-08 TCGA-BR-A4J4-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e cf5a2a68-639d-4623-ad6c-71d061db302e 10 67726396 67726396 G T SNP CTNNA3 ENST00000373744 human ensembl 74_37 -1 known missense c.2374 p.L792M 0.999 pfam_Vinculin/catenin,superfamily_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA3 HGNC ENSG00000183230 92 0 0 64 20 23.8095 KIAA1279 0 genome.wustl.edu 37 10 70775550 70775550 + Missense_Mutation SNP A A G TCGA-BR-A4J4-01A-12D-A25D-08 TCGA-BR-A4J4-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e cf5a2a68-639d-4623-ad6c-71d061db302e 10 70775550 70775550 A G SNP KIAA1279 ENST00000361983 human ensembl 74_37 +1 known missense c.1244 p.Y415C 1.000 pfam_KBP pfam_KBP - no_errors KIAA1279 HGNC ENSG00000198954 129 0 0 115 42 26.7516 ZBTB16 0 genome.wustl.edu 37 11 114112981 114112981 + Missense_Mutation SNP C C T TCGA-BR-A4J4-01A-12D-A25D-08 TCGA-BR-A4J4-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e cf5a2a68-639d-4623-ad6c-71d061db302e 11 114112981 114112981 C T SNP ZBTB16 ENST00000335953 human ensembl 74_37 +1 known missense c.1546 p.R516C 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB16 HGNC ENSG00000109906 103 0 0 57 12 17.3913 DSCAML1 0 genome.wustl.edu 37 11 117395775 117395775 + Missense_Mutation SNP T T C TCGA-BR-A4J4-01A-12D-A25D-08 TCGA-BR-A4J4-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e cf5a2a68-639d-4623-ad6c-71d061db302e 11 117395775 117395775 T C SNP DSCAML1 ENST00000321322 human ensembl 74_37 -1 known missense c.862 p.I288V 1.000 pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DSCAML1 HGNC ENSG00000177103 20 0 0 11 5 31.25 MFRP 0 genome.wustl.edu 37 11 119217033 119217033 + Missense_Mutation SNP G G A TCGA-BR-A4J4-01A-12D-A25D-08 TCGA-BR-A4J4-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e cf5a2a68-639d-4623-ad6c-71d061db302e 11 119217033 119217033 G A SNP MFRP ENST00000449574 human ensembl 74_37 -1 known missense c.106 p.P36S 0.001 NULL pfam_CUB_dom,pfam_Frizzled_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_Frizzled_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,smart_Frizzled_dom,pfscan_CUB_dom,pfscan_Frizzled_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt - no_errors MFRP HGNC ENSG00000235718 51 0 0 40 17 29.8246 OR4C13 0 genome.wustl.edu 37 11 49974639 49974639 + Missense_Mutation SNP C C T TCGA-BR-A4J4-01A-12D-A25D-08 TCGA-BR-A4J4-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e cf5a2a68-639d-4623-ad6c-71d061db302e 11 49974639 49974639 C T SNP OR4C13 ENST00000555099 human ensembl 74_37 +1 known missense c.665 p.S222F 0.096 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C13 HGNC ENSG00000258817 135 0 0 99 26 20.8 NOS1 0 genome.wustl.edu 37 12 117723124 117723124 + Missense_Mutation SNP C C T TCGA-BR-A4J4-01A-12D-A25D-08 TCGA-BR-A4J4-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e cf5a2a68-639d-4623-ad6c-71d061db302e 12 117723124 117723124 C T SNP NOS1 ENST00000317775 human ensembl 74_37 -1 known missense c.1304 p.R435H 1.000 pfam_NO_synthase_oxygenase_dom,superfamily_NO_synthase_oxygenase_dom,pirsf_NOS_euk pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,pfam_PDZ,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,superfamily_PDZ,smart_PDZ,pirsf_NOS_euk,pfscan_PDZ,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS1 HGNC ENSG00000089250 60 0 0 36 8 18.1818 CSAD 0 genome.wustl.edu 37 12 53566164 53566164 + Missense_Mutation SNP C C T TCGA-BR-A4J4-01A-12D-A25D-08 TCGA-BR-A4J4-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e cf5a2a68-639d-4623-ad6c-71d061db302e 12 53566164 53566164 C T SNP CSAD ENST00000267085 human ensembl 74_37 -1 known missense c.391 p.G131R 1.000 pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase pfam_PyrdxlP-dep_de-COase,pfam_Aminotrans_V/Cys_dSase,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase - no_errors CSAD HGNC ENSG00000139631 133 0 0 72 39 35.1351 VWF 0 genome.wustl.edu 37 12 6128308 6128308 + Missense_Mutation SNP G G A TCGA-BR-A4J4-01A-12D-A25D-08 TCGA-BR-A4J4-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e cf5a2a68-639d-4623-ad6c-71d061db302e 12 6128308 6128308 G A SNP VWF ENST00000261405 human ensembl 74_37 -1 known missense c.4276 p.R1426C 1.000 pirsf_VWF,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pirsf_VWF,pfam_VWF_type-D,pfam_VWF_A,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_VWF_A,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C - no_errors VWF HGNC ENSG00000110799 135 1 0.735294 87 24 21.6216 SRGAP1 0 genome.wustl.edu 37 12 64485106 64485106 + Missense_Mutation SNP G G A TCGA-BR-A4J4-01A-12D-A25D-08 TCGA-BR-A4J4-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e cf5a2a68-639d-4623-ad6c-71d061db302e 12 64485106 64485106 G A SNP SRGAP1 ENST00000355086 human ensembl 74_37 +1 known missense c.1487 p.R496H 1.000 NULL pfam_RhoGAP_dom,pfam_FCH_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Fuc/Ara_isomerase_C,smart_FCH_dom,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors SRGAP1 HGNC ENSG00000196935 111 0 0 96 14 12.7273 CHD4 0 genome.wustl.edu 37 12 6692411 6692411 + Missense_Mutation SNP C C A TCGA-BR-A4J4-01A-12D-A25D-08 TCGA-BR-A4J4-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e cf5a2a68-639d-4623-ad6c-71d061db302e 12 6692411 6692411 C A SNP CHD4 ENST00000309577 human ensembl 74_37 -1 known missense c.4013 p.R1338I 1.000 pfam_DUF1087 pfam_CHD_C2,pfam_DUF1086,pfam_SNF2_N,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,superfamily_Homeodomain-like,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD4 HGNC ENSG00000111642 272 1 0.3663 190 43 18.4549 EMG1 0 genome.wustl.edu 37 12 7083744 7083744 + Missense_Mutation SNP A A G TCGA-BR-A4J4-01A-12D-A25D-08 TCGA-BR-A4J4-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e cf5a2a68-639d-4623-ad6c-71d061db302e 12 7083744 7083744 A G SNP EMG1 ENST00000261406 human ensembl 74_37 +1 known missense c.298 p.N100D 1.000 pfam_Rbsml_bgen_MeTrfase_EMG1/NEP1 pfam_Rbsml_bgen_MeTrfase_EMG1/NEP1 - no_errors EMG1 HGNC ENSG00000126749 57 0 0 29 10 25.641 LGR5 0 genome.wustl.edu 37 12 71833964 71833964 + Missense_Mutation SNP C C T TCGA-BR-A4J4-01A-12D-A25D-08 TCGA-BR-A4J4-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e cf5a2a68-639d-4623-ad6c-71d061db302e 12 71833964 71833964 C T SNP LGR5 ENST00000266674 human ensembl 74_37 +1 known missense c.104 p.P35L 0.962 pfam_LRR-contain_N,smart_LRR-contain_N pfam_Leu-rich_rpt,pfam_GPCR_Rhodpsn,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors LGR5 HGNC ENSG00000139292 117 1 0.847458 67 36 34.9515 KLF12 0 genome.wustl.edu 37 13 74269809 74269809 + Splice_Site SNP C C A TCGA-BR-A4J4-01A-12D-A25D-08 TCGA-BR-A4J4-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e cf5a2a68-639d-4623-ad6c-71d061db302e 13 74269809 74269809 C A SNP KLF12 ENST00000377666 human ensembl 74_37 -1 known splice_site c.1028-1 e7-1 1.000 - - - no_errors KLF12 HGNC ENSG00000118922 53 0 0 54 16 22.8571 SYNE2 0 genome.wustl.edu 37 14 64596520 64596520 + Silent SNP G G C TCGA-BR-A4J4-01A-12D-A25D-08 TCGA-BR-A4J4-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e cf5a2a68-639d-4623-ad6c-71d061db302e 14 64596520 64596520 G C SNP SYNE2 ENST00000358025 human ensembl 74_37 +1 known silent c.14040 p.V4680 0.455 NULL pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 92 0 0 55 18 24.6575 CCDC88C 0 genome.wustl.edu 37 14 91749697 91749697 + Missense_Mutation SNP C C T TCGA-BR-A4J4-01A-12D-A25D-08 TCGA-BR-A4J4-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e cf5a2a68-639d-4623-ad6c-71d061db302e 14 91749697 91749697 C T SNP CCDC88C ENST00000389857 human ensembl 74_37 -1 known missense c.4606 p.A1536T 0.000 NULL pfam_Hook-related_fam,superfamily_Prefoldin,superfamily_Fum_Rdtase/Succ_DH_flav-like_C - no_errors CCDC88C HGNC ENSG00000015133 58 0 0 36 10 21.7391 LGMN 0 genome.wustl.edu 37 14 93176158 93176158 + Silent SNP G G A TCGA-BR-A4J4-01A-12D-A25D-08 TCGA-BR-A4J4-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e cf5a2a68-639d-4623-ad6c-71d061db302e 14 93176158 93176158 G A SNP LGMN ENST00000334869 human ensembl 74_37 -1 known silent c.879 p.P293 0.011 NULL pfam_Peptidase_C13,prints_Peptidase_C13 - no_errors LGMN HGNC ENSG00000100600 144 0 0 93 25 21.1864 WHAMMP3 0 genome.wustl.edu 37 15 23205108 23205108 + RNA SNP C C T TCGA-BR-A4J4-01A-12D-A25D-08 TCGA-BR-A4J4-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e cf5a2a68-639d-4623-ad6c-71d061db302e 15 23205108 23205108 C T SNP WHAMMP3 ENST00000400153 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors WHAMMP3 HGNC ENSG00000187667 10 0 0 6 4 40 IL16 0 genome.wustl.edu 37 15 81592486 81592486 + Missense_Mutation SNP C C T TCGA-BR-A4J4-01A-12D-A25D-08 TCGA-BR-A4J4-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e cf5a2a68-639d-4623-ad6c-71d061db302e 15 81592486 81592486 C T SNP IL16 ENST00000302987 human ensembl 74_37 +1 known missense c.2819 p.P940L 0.103 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,prints_IL-16 - no_errors IL16 HGNC ENSG00000172349 98 0 0 46 27 36.9863 ZNF263 0 genome.wustl.edu 37 16 3334025 3334025 + Missense_Mutation SNP G G T TCGA-BR-A4J4-01A-12D-A25D-08 TCGA-BR-A4J4-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e cf5a2a68-639d-4623-ad6c-71d061db302e 16 3334025 3334025 G T SNP ZNF263 ENST00000219069 human ensembl 74_37 +1 known missense c.207 p.W69C 1.000 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF263 HGNC ENSG00000006194 157 0 0 103 29 21.9697 CNGB1 0 genome.wustl.edu 37 16 57931809 57931809 + Missense_Mutation SNP C C T TCGA-BR-A4J4-01A-12D-A25D-08 TCGA-BR-A4J4-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e cf5a2a68-639d-4623-ad6c-71d061db302e 16 57931809 57931809 C T SNP CNGB1 ENST00000251102 human ensembl 74_37 -1 known missense c.2986 p.G996S 1.000 pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGB1 HGNC ENSG00000070729 288 0 0 147 36 19.6721 MYOCD 0 genome.wustl.edu 37 17 12656514 12656514 + Missense_Mutation SNP C C A TCGA-BR-A4J4-01A-12D-A25D-08 TCGA-BR-A4J4-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e cf5a2a68-639d-4623-ad6c-71d061db302e 17 12656514 12656514 C A SNP MYOCD ENST00000425538 human ensembl 74_37 +1 known missense c.1909 p.H637N 1.000 NULL pfam_RPEL_repeat,pfam_SAP_dom,smart_RPEL_repeat,smart_SAP_dom,pfscan_RPEL_repeat,pfscan_SAP_dom - no_errors MYOCD HGNC ENSG00000141052 185 1 0.537634 146 37 20.2186 PRPF8 0 genome.wustl.edu 37 17 1586851 1586851 + Missense_Mutation SNP C C T TCGA-BR-A4J4-01A-12D-A25D-08 TCGA-BR-A4J4-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e cf5a2a68-639d-4623-ad6c-71d061db302e 17 1586851 1586851 C T SNP PRPF8 ENST00000304992 human ensembl 74_37 -1 known missense c.245 p.R82H 0.997 pfam_PRO8NT pfam_PROCN,pfam_PRP8_domainIV,pfam_Prp8_U6-snRNA-bd,pfam_PRO8NT,pfam_Prp8_U5-snRNA-bd,pfam_PROCT,pfam_RRM_spliceosomal_PrP8,pfam_JAB_MPN_dom,superfamily_Cupredoxin,superfamily_Histone-fold,smart_JAB_MPN_dom - no_errors PRPF8 HGNC ENSG00000174231 123 0 0 95 28 22.7642 SLC6A4 0 genome.wustl.edu 37 17 28537598 28537598 + Missense_Mutation SNP G G A TCGA-BR-A4J4-01A-12D-A25D-08 TCGA-BR-A4J4-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e cf5a2a68-639d-4623-ad6c-71d061db302e 17 28537598 28537598 G A SNP SLC6A4 ENST00000261707 human ensembl 74_37 -1 known missense c.1384 p.R462W 1.000 pfam_Na/ntran_symport,pfscan_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 179 0 0 96 20 17.2414 KRTAP4-8 0 genome.wustl.edu 37 17 39254221 39254221 + Missense_Mutation SNP C C A TCGA-BR-A4J4-01A-12D-A25D-08 TCGA-BR-A4J4-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e cf5a2a68-639d-4623-ad6c-71d061db302e 17 39254221 39254221 C A SNP KRTAP4-8 ENST00000333822 human ensembl 74_37 -1 known missense c.116 p.C39F 0.998 pfam_Keratin-assoc pfam_Keratin-assoc - no_errors KRTAP4-8 HGNC ENSG00000204880 124 0 0 54 26 32.5 TBX4 0 genome.wustl.edu 37 17 59557598 59557598 + Silent SNP C C T TCGA-BR-A4J4-01A-12D-A25D-08 TCGA-BR-A4J4-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e cf5a2a68-639d-4623-ad6c-71d061db302e 17 59557598 59557598 C T SNP TBX4 ENST00000393853 human ensembl 74_37 +1 known silent c.939 p.L313 0.998 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX4 HGNC ENSG00000121075 176 0 0 62 43 40.9524 CNDP2 0 genome.wustl.edu 37 18 72187233 72187233 + Splice_Site SNP G G T TCGA-BR-A4J4-01A-12D-A25D-08 TCGA-BR-A4J4-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e cf5a2a68-639d-4623-ad6c-71d061db302e 18 72187233 72187233 G T SNP CNDP2 ENST00000324262 human ensembl 74_37 +1 known splice_site c.1359-1 e11-1 1.000 - - - no_errors CNDP2 HGNC ENSG00000133313 48 0 0 36 3 7.69231 LPHN1 0 genome.wustl.edu 37 19 14262032 14262032 + Missense_Mutation SNP C C G TCGA-BR-A4J4-01A-12D-A25D-08 TCGA-BR-A4J4-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e cf5a2a68-639d-4623-ad6c-71d061db302e 19 14262032 14262032 C G SNP LPHN1 ENST00000340736 human ensembl 74_37 -1 known missense c.4078 p.E1360Q 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 LPHN1 HGNC ENSG00000072071 80 0 0 41 8 16.3265 OCEL1 0 genome.wustl.edu 37 19 17337947 17337947 + Missense_Mutation SNP C C T TCGA-BR-A4J4-01A-12D-A25D-08 TCGA-BR-A4J4-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e cf5a2a68-639d-4623-ad6c-71d061db302e 19 17337947 17337947 C T SNP OCEL1 ENST00000215061 human ensembl 74_37 +1 known missense c.391 p.P131S 0.000 NULL pfam_Occludin_RNApol2_elong_fac_ELL - no_errors OCEL1 HGNC ENSG00000099330 211 0 0 130 30 18.75 DAPK3 0 genome.wustl.edu 37 19 3959148 3959148 + Missense_Mutation SNP C C T TCGA-BR-A4J4-01A-12D-A25D-08 TCGA-BR-A4J4-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e cf5a2a68-639d-4623-ad6c-71d061db302e 19 3959148 3959148 C T SNP DAPK3 ENST00000301264 human ensembl 74_37 -1 known missense c.1316 p.R439H 0.011 NULL pfam_Prot_kinase_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_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors DAPK3 HGNC ENSG00000167657 28 0 0 17 6 26.087 FEM1A 0 genome.wustl.edu 37 19 4793724 4793724 + Missense_Mutation SNP C C A TCGA-BR-A4J4-01A-12D-A25D-08 TCGA-BR-A4J4-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e cf5a2a68-639d-4623-ad6c-71d061db302e 19 4793724 4793724 C A SNP FEM1A ENST00000269856 human ensembl 74_37 +1 known missense c.1858 p.L620M 1.000 superfamily_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors FEM1A HGNC ENSG00000141965 82 0 0 42 4 8.69565 ZNF160 0 genome.wustl.edu 37 19 53572897 53572897 + Missense_Mutation SNP C C T TCGA-BR-A4J4-01A-12D-A25D-08 TCGA-BR-A4J4-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e cf5a2a68-639d-4623-ad6c-71d061db302e 19 53572897 53572897 C T SNP ZNF160 ENST00000418871 human ensembl 74_37 -1 known missense c.890 p.R297H 0.000 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 ZNF160 HGNC ENSG00000170949 145 0 0 126 22 14.8649 CAMSAP3 0 genome.wustl.edu 37 19 7682912 7682912 + Missense_Mutation SNP C C T TCGA-BR-A4J4-01A-12D-A25D-08 TCGA-BR-A4J4-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e cf5a2a68-639d-4623-ad6c-71d061db302e 19 7682912 7682912 C T SNP CAMSAP3 ENST00000446248 human ensembl 74_37 +1 known missense c.3800 p.T1267I 0.653 superfamily_PRC_barrel-like pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrel-like,superfamily_CH-domain - no_errors CAMSAP3 HGNC ENSG00000076826 137 0 0 59 15 20.2703 LOC100131320 0 genome.wustl.edu 37 2 130725857 130725857 + RNA SNP G G C TCGA-BR-A4J4-01A-12D-A25D-08 TCGA-BR-A4J4-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e cf5a2a68-639d-4623-ad6c-71d061db302e 2 130725857 130725857 G C SNP LOC100131320 ENST00000412425 human ensembl 74_37 -1 known rna NULL NULL 0.860 - - - no_errors AC079776.7 Clone_based_vega_gene ENSG00000225449 50 0 0 18 5 21.7391 NEB 0 genome.wustl.edu 37 2 152420119 152420119 + Splice_Site SNP C C G TCGA-BR-A4J4-01A-12D-A25D-08 TCGA-BR-A4J4-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e cf5a2a68-639d-4623-ad6c-71d061db302e 2 152420119 152420119 C G SNP NEB ENST00000397345 human ensembl 74_37 -1 known splice_site c.18693+1 e117+1 1.000 - - - no_errors NEB HGNC ENSG00000183091 272 0 0 154 50 24.5098 SCN1A 0 genome.wustl.edu 37 2 166852556 166852556 + Silent SNP C C T TCGA-BR-A4J4-01A-12D-A25D-08 TCGA-BR-A4J4-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e cf5a2a68-639d-4623-ad6c-71d061db302e 2 166852556 166852556 C T SNP SCN1A ENST00000303395 human ensembl 74_37 -1 known silent c.4548 p.S1516 0.992 NULL pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_a1su,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN1A HGNC ENSG00000144285 49 0 0 72 13 15.2941 OSBPL6 0 genome.wustl.edu 37 2 179197373 179197373 + Missense_Mutation SNP G G T TCGA-BR-A4J4-01A-12D-A25D-08 TCGA-BR-A4J4-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e cf5a2a68-639d-4623-ad6c-71d061db302e 2 179197373 179197373 G T SNP OSBPL6 ENST00000315022 human ensembl 74_37 +1 known missense c.315 p.Q105H 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Oxysterol-bd,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL6 HGNC ENSG00000079156 129 0 0 93 22 19.1304 ITGA4 0 genome.wustl.edu 37 2 182350607 182350607 + Splice_Site SNP G G A TCGA-BR-A4J4-01A-12D-A25D-08 TCGA-BR-A4J4-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e cf5a2a68-639d-4623-ad6c-71d061db302e 2 182350607 182350607 G A SNP ITGA4 ENST00000397033 human ensembl 74_37 +1 known splice_site c.1042-1 e10-1 1.000 - - - no_errors ITGA4 HGNC ENSG00000115232 98 0 0 66 22 25 SCG2 0 genome.wustl.edu 37 2 224462648 224462648 + Silent SNP C C T TCGA-BR-A4J4-01A-12D-A25D-08 TCGA-BR-A4J4-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e cf5a2a68-639d-4623-ad6c-71d061db302e 2 224462648 224462648 C T SNP SCG2 ENST00000305409 human ensembl 74_37 -1 known silent c.1353 p.S451 0.179 pfam_Granin pfam_Granin - no_errors SCG2 HGNC ENSG00000171951 145 0 0 120 20 14.2857 COL4A4 0 genome.wustl.edu 37 2 227919448 227919448 + Missense_Mutation SNP G G A TCGA-BR-A4J4-01A-12D-A25D-08 TCGA-BR-A4J4-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e cf5a2a68-639d-4623-ad6c-71d061db302e 2 227919448 227919448 G A SNP COL4A4 ENST00000396625 human ensembl 74_37 -1 known missense c.2722 p.R908W 0.037 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A4 HGNC ENSG00000081052 47 0 0 28 11 28.2051 VIT 0 genome.wustl.edu 37 2 36982155 36982155 + Missense_Mutation SNP T T C TCGA-BR-A4J4-01A-12D-A25D-08 TCGA-BR-A4J4-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e cf5a2a68-639d-4623-ad6c-71d061db302e 2 36982155 36982155 T C SNP VIT ENST00000379242 human ensembl 74_37 +1 known missense c.367 p.S123P 1.000 pfam_LCCL,superfamily_LCCL,smart_LCCL,pfscan_LCCL pfam_VWF_A,pfam_LCCL,superfamily_LCCL,smart_LCCL,smart_VWF_A,pfscan_LCCL,pfscan_VWF_A - no_errors VIT HGNC ENSG00000205221 57 0 0 33 14 29.7872 STON1-GTF2A1L 0 genome.wustl.edu 37 2 48848398 48848398 + Missense_Mutation SNP C C G TCGA-BR-A4J4-01A-12D-A25D-08 TCGA-BR-A4J4-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e cf5a2a68-639d-4623-ad6c-71d061db302e 2 48848398 48848398 C G SNP STON1-GTF2A1L ENST00000309827 human ensembl 74_37 +1 known missense c.2328 p.H776Q 0.029 pfam_TFIIA_asu/bsu pfam_TFIIA_asu/bsu,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,superfamily_TFIIA_b-brl,superfamily_TFIIA_a-hlx,pfscan_Clathrin_mu_C,pfscan_SHD - no_errors STON1-GTF2A1L HGNC ENSG00000068781 64 0 0 52 10 16.129 MTIF2 0 genome.wustl.edu 37 2 55470638 55470638 + Missense_Mutation SNP C C T TCGA-BR-A4J4-01A-12D-A25D-08 TCGA-BR-A4J4-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e cf5a2a68-639d-4623-ad6c-71d061db302e 2 55470638 55470638 C T SNP MTIF2 ENST00000263629 human ensembl 74_37 -1 known missense c.1478 p.R493Q 0.678 NULL pfam_EF_GTP-bd_dom,pfam_TIF_IF2_dom3,pfam_Transl_elong_EFTu/EF1A_2,pfam_MIRO-like,pfam_GTP_binding_domain,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase,superfamily_TIF_IF2_dom3,superfamily_Transl_B-barrel,tigrfam_Small_GTP-bd_dom - no_errors MTIF2 HGNC ENSG00000085760 104 0 0 101 18 15.1261 CHD6 0 genome.wustl.edu 37 20 40033670 40033670 + Missense_Mutation SNP C C T TCGA-BR-A4J4-01A-12D-A25D-08 TCGA-BR-A4J4-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e cf5a2a68-639d-4623-ad6c-71d061db302e 20 40033670 40033670 C T SNP CHD6 ENST00000373233 human ensembl 74_37 -1 known missense c.7711 p.D2571N 1.000 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_BRK_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD6 HGNC ENSG00000124177 196 1 0.507614 129 97 42.9204 CDH22 0 genome.wustl.edu 37 20 44869878 44869878 + Missense_Mutation SNP C C T TCGA-BR-A4J4-01A-12D-A25D-08 TCGA-BR-A4J4-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e cf5a2a68-639d-4623-ad6c-71d061db302e 20 44869878 44869878 C T SNP CDH22 ENST00000372262 human ensembl 74_37 -1 known missense c.274 p.E92K 0.996 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,superfamily_MFS_dom_general_subst_transpt,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH22 HGNC ENSG00000149654 59 0 0 32 3 8.57143 PROKR2 0 genome.wustl.edu 37 20 5294853 5294853 + Missense_Mutation SNP C C T TCGA-BR-A4J4-01A-12D-A25D-08 TCGA-BR-A4J4-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e cf5a2a68-639d-4623-ad6c-71d061db302e 20 5294853 5294853 C T SNP PROKR2 ENST00000217270 human ensembl 74_37 -1 known missense c.163 p.V55I 0.966 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors PROKR2 HGNC ENSG00000101292 161 0 0 111 22 16.5414 TAF4 0 genome.wustl.edu 37 20 60581663 60581663 + Missense_Mutation SNP G G A TCGA-BR-A4J4-01A-12D-A25D-08 TCGA-BR-A4J4-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e cf5a2a68-639d-4623-ad6c-71d061db302e 20 60581663 60581663 G A SNP TAF4 ENST00000252996 human ensembl 74_37 -1 known missense c.2126 p.T709M 1.000 NULL pfam_TAF4,pfam_TAFH_NHR1,superfamily_Histone-fold,smart_TAFH_NHR1,pfscan_TAFH_NHR1 - no_errors TAF4 HGNC ENSG00000130699 35 0 0 31 9 22.5 SS18L1 0 genome.wustl.edu 37 20 60749663 60749663 + Missense_Mutation SNP C C T TCGA-BR-A4J4-01A-12D-A25D-08 TCGA-BR-A4J4-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e cf5a2a68-639d-4623-ad6c-71d061db302e 20 60749663 60749663 C T SNP SS18L1 ENST00000370848 human ensembl 74_37 +1 known missense c.1136 p.P379L 1.000 NULL pfam_SS18_fam - no_errors SS18L1 HGNC ENSG00000184402 292 0 0 181 34 15.814 TIMP3 0 genome.wustl.edu 37 22 33253288 33253288 + Missense_Mutation SNP C C A TCGA-BR-A4J4-01A-12D-A25D-08 TCGA-BR-A4J4-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e cf5a2a68-639d-4623-ad6c-71d061db302e 22 33253288 33253288 C A SNP TIMP3 ENST00000266085 human ensembl 74_37 +1 known missense c.257 p.A86D 1.000 pfam_Prot_inh_TIMP,superfamily_TIMP-like_OB-fold,smart_Prot_inh_TIMP,pfscan_Netrin_domain pfam_Prot_inh_TIMP,superfamily_TIMP-like_OB-fold,smart_Prot_inh_TIMP,pfscan_Netrin_domain - no_errors TIMP3 HGNC ENSG00000100234 122 0 0 70 23 24.7312 IFT57 0 genome.wustl.edu 37 3 107881416 107881416 + Missense_Mutation SNP T T C TCGA-BR-A4J4-01A-12D-A25D-08 TCGA-BR-A4J4-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e cf5a2a68-639d-4623-ad6c-71d061db302e 3 107881416 107881416 T C SNP IFT57 ENST00000264538 human ensembl 74_37 -1 known missense c.1198 p.T400A 1.000 pfam_Intra-flagellar_transport_57 pfam_Intra-flagellar_transport_57,superfamily_t-SNARE - no_errors IFT57 HGNC ENSG00000114446 57 0 0 105 19 15.3226 ARHGAP31 0 genome.wustl.edu 37 3 119102043 119102043 + Missense_Mutation SNP A A C TCGA-BR-A4J4-01A-12D-A25D-08 TCGA-BR-A4J4-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e cf5a2a68-639d-4623-ad6c-71d061db302e 3 119102043 119102043 A C SNP ARHGAP31 ENST00000264245 human ensembl 74_37 +1 known missense c.652 p.N218H 0.874 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP31 HGNC ENSG00000031081 134 0 0 125 20 13.7931 PLSCR4 0 genome.wustl.edu 37 3 145917695 145917695 + Missense_Mutation SNP G G A TCGA-BR-A4J4-01A-12D-A25D-08 TCGA-BR-A4J4-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e cf5a2a68-639d-4623-ad6c-71d061db302e 3 145917695 145917695 G A SNP PLSCR4 ENST00000354952 human ensembl 74_37 -1 known missense c.529 p.R177W 0.525 pfam_Scramblase pfam_Scramblase - no_errors PLSCR4 HGNC ENSG00000114698 55 0 0 25 19 43.1818 DVL3 0 genome.wustl.edu 37 3 183885732 183885732 + Silent SNP G G A TCGA-BR-A4J4-01A-12D-A25D-08 TCGA-BR-A4J4-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e cf5a2a68-639d-4623-ad6c-71d061db302e 3 183885732 183885732 G A SNP DVL3 ENST00000313143 human ensembl 74_37 +1 known silent c.1377 p.T459 0.020 pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom,prints_Dishevelled_fam pfam_Dishevelled_C-dom,pfam_DIX,pfam_Dishevelled_protein_dom,pfam_PDZ,pfam_DEP_dom,superfamily_PDZ,smart_DIX,smart_PDZ,smart_DEP_dom,pfscan_DEP_dom,pfscan_DIX,pfscan_PDZ,prints_Dishevelled_fam,prints_Dishevelled_3 - no_errors DVL3 HGNC ENSG00000161202 120 0 0 131 19 12.6667 ITIH1 0 genome.wustl.edu 37 3 52822070 52822070 + Nonsense_Mutation SNP C C T TCGA-BR-A4J4-01A-12D-A25D-08 TCGA-BR-A4J4-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e cf5a2a68-639d-4623-ad6c-71d061db302e 3 52822070 52822070 C T SNP ITIH1 ENST00000273283 human ensembl 74_37 +1 known nonsense c.1993 p.R665* 0.756 NULL pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,superfamily_PsdUridine_synth_cat_dom,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH1 HGNC ENSG00000055957 160 0 0 69 17 19.7674 EMCN 0 genome.wustl.edu 37 4 101342516 101342516 + Missense_Mutation SNP A A C TCGA-BR-A4J4-01A-12D-A25D-08 TCGA-BR-A4J4-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e cf5a2a68-639d-4623-ad6c-71d061db302e 4 101342516 101342516 A C SNP EMCN ENST00000296420 human ensembl 74_37 -1 known missense c.587 p.V196G 0.997 pfam_Endomucin pfam_Endomucin - no_errors EMCN HGNC ENSG00000164035 61 0 0 59 21 26.25 FSTL5 0 genome.wustl.edu 37 4 162307215 162307215 + Missense_Mutation SNP G G T TCGA-BR-A4J4-01A-12D-A25D-08 TCGA-BR-A4J4-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e cf5a2a68-639d-4623-ad6c-71d061db302e 4 162307215 162307215 G T SNP FSTL5 ENST00000306100 human ensembl 74_37 -1 known missense c.2228 p.A743E 1.000 NULL pfam_Ig_I-set,pfam_Kazal_dom,pfam_Ig_V-set,smart_Kazal_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_hand_dom,pfscan_Ig-like_dom - no_errors FSTL5 HGNC ENSG00000168843 91 0 0 66 13 16.4557 RBM47 0 genome.wustl.edu 37 4 40428122 40428122 + Silent SNP G G A TCGA-BR-A4J4-01A-12D-A25D-08 TCGA-BR-A4J4-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e cf5a2a68-639d-4623-ad6c-71d061db302e 4 40428122 40428122 G A SNP RBM47 ENST00000295971 human ensembl 74_37 -1 known silent c.1581 p.N527 0.975 tigrfam_HnRNP_R/Q_splicing_fac pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac - no_errors RBM47 HGNC ENSG00000163694 113 0 0 52 17 24.6377 HERC5 0 genome.wustl.edu 37 4 89391825 89391825 + Splice_Site SNP G G A TCGA-BR-A4J4-01A-12D-A25D-08 TCGA-BR-A4J4-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e cf5a2a68-639d-4623-ad6c-71d061db302e 4 89391825 89391825 G A SNP HERC5 ENST00000264350 human ensembl 74_37 +1 known splice_site c.1298+1 e10+1 1.000 - - - no_errors HERC5 HGNC ENSG00000138646 61 0 0 70 17 19.5402 PCDHA6 0 genome.wustl.edu 37 5 140209170 140209170 + Silent SNP G G T TCGA-BR-A4J4-01A-12D-A25D-08 TCGA-BR-A4J4-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e cf5a2a68-639d-4623-ad6c-71d061db302e 5 140209170 140209170 G T SNP PCDHA6 ENST00000529310 human ensembl 74_37 +1 known silent c.1494 p.R498 0.002 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA6 HGNC ENSG00000081842 235 0 0 135 36 21.0526 GRIA1 0 genome.wustl.edu 37 5 153085480 153085480 + Missense_Mutation SNP G G A TCGA-BR-A4J4-01A-12D-A25D-08 TCGA-BR-A4J4-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e cf5a2a68-639d-4623-ad6c-71d061db302e 5 153085480 153085480 G A SNP GRIA1 ENST00000448073 human ensembl 74_37 +1 known missense c.1706 p.R569H 1.000 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIA1 HGNC ENSG00000155511 130 0 0 105 26 19.8473 ADAMTS12 0 genome.wustl.edu 37 5 33588884 33588884 + Silent SNP C C T TCGA-BR-A4J4-01A-12D-A25D-08 TCGA-BR-A4J4-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e cf5a2a68-639d-4623-ad6c-71d061db302e 5 33588884 33588884 C T SNP ADAMTS12 ENST00000504830 human ensembl 74_37 -1 known silent c.2685 p.S895 0.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS12 HGNC ENSG00000151388 101 0 0 51 11 17.7419 IL7R 0 genome.wustl.edu 37 5 35876556 35876556 + Missense_Mutation SNP G G A TCGA-BR-A4J4-01A-12D-A25D-08 TCGA-BR-A4J4-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e cf5a2a68-639d-4623-ad6c-71d061db302e 5 35876556 35876556 G A SNP IL7R ENST00000303115 human ensembl 74_37 +1 known missense c.1348 p.V450I 1.000 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3 - no_errors IL7R HGNC ENSG00000168685 52 0 0 44 17 27.8689 CMYA5 0 genome.wustl.edu 37 5 79033258 79033258 + Missense_Mutation SNP C C A TCGA-BR-A4J4-01A-12D-A25D-08 TCGA-BR-A4J4-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e cf5a2a68-639d-4623-ad6c-71d061db302e 5 79033258 79033258 C A SNP CMYA5 ENST00000446378 human ensembl 74_37 +1 known missense c.8670 p.S2890R 0.000 NULL pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors CMYA5 HGNC ENSG00000164309 87 0 0 72 18 20 EDIL3 0 genome.wustl.edu 37 5 83402534 83402534 + Missense_Mutation SNP C C T TCGA-BR-A4J4-01A-12D-A25D-08 TCGA-BR-A4J4-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e cf5a2a68-639d-4623-ad6c-71d061db302e 5 83402534 83402534 C T SNP EDIL3 ENST00000296591 human ensembl 74_37 -1 known missense c.584 p.R195H 0.997 pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,pfam_EGF_extracell,superfamily_Galactose-bd-like,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Coagulation_fac_5/8-C_type_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors EDIL3 HGNC ENSG00000164176 183 0 0 149 35 19.0217 GCM2 0 genome.wustl.edu 37 6 10874928 10874928 + Missense_Mutation SNP C C A TCGA-BR-A4J4-01A-12D-A25D-08 TCGA-BR-A4J4-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e cf5a2a68-639d-4623-ad6c-71d061db302e 6 10874928 10874928 C A SNP GCM2 ENST00000379491 human ensembl 74_37 -1 known missense c.821 p.S274I 1.000 NULL pfam_Tscrpt_reg_GCM_motif,superfamily_Tscrpt_reg_GCM_motif,pfscan_Tscrpt_reg_GCM_motif - no_errors GCM2 HGNC ENSG00000124827 274 0 0 197 48 19.5918 SHPRH 0 genome.wustl.edu 37 6 146240548 146240548 + Missense_Mutation SNP C C G TCGA-BR-A4J4-01A-12D-A25D-08 TCGA-BR-A4J4-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e cf5a2a68-639d-4623-ad6c-71d061db302e 6 146240548 146240548 C G SNP SHPRH ENST00000367503 human ensembl 74_37 -1 known missense c.4100 p.R1367T 1.000 superfamily_P-loop_NTPase pfam_SNF2_N,pfam_Histone_H1/H5_H15,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,superfamily_WW_dom,smart_Helicase_ATP-bd,smart_Histone_H1/H5_H15,smart_Znf_PHD,smart_Znf_RING,smart_Helicase_C,pfscan_Znf_RING,pfscan_Helicase_C - no_errors SHPRH HGNC ENSG00000146414 177 0 0 101 61 37.6543 STXBP5 0 genome.wustl.edu 37 6 147685193 147685193 + Missense_Mutation SNP G G A TCGA-BR-A4J4-01A-12D-A25D-08 TCGA-BR-A4J4-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e cf5a2a68-639d-4623-ad6c-71d061db302e 6 147685193 147685193 G A SNP STXBP5 ENST00000321680 human ensembl 74_37 +1 known missense c.2972 p.R991Q 1.000 pfam_Lgl_C_dom,superfamily_WD40_repeat_dom pfam_LLGL2,pfam_WD40_repeat,pfam_Lgl_C_dom,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,pfscan_Synaptobrevin,prints_Lethal2_giant - no_errors STXBP5 HGNC ENSG00000164506 166 0 0 146 38 20.6522 SYNE1 0 genome.wustl.edu 37 6 152540275 152540275 + Missense_Mutation SNP G G A TCGA-BR-A4J4-01A-12D-A25D-08 TCGA-BR-A4J4-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e cf5a2a68-639d-4623-ad6c-71d061db302e 6 152540275 152540275 G A SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.21907 p.L7303F 0.997 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 108 0 0 92 5 5.15464 ARID1B 0 genome.wustl.edu 37 6 157528141 157528141 + Missense_Mutation SNP T T C TCGA-BR-A4J4-01A-12D-A25D-08 TCGA-BR-A4J4-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e cf5a2a68-639d-4623-ad6c-71d061db302e 6 157528141 157528141 T C SNP ARID1B ENST00000367148 human ensembl 74_37 +1 known missense c.5986 p.S1996P 1.000 pfam_DUF3518 pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1B HGNC ENSG00000049618 174 0 0 88 53 37.5887 MDGA1 0 genome.wustl.edu 37 6 37623600 37623600 + Missense_Mutation SNP G G A TCGA-BR-A4J4-01A-12D-A25D-08 TCGA-BR-A4J4-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e cf5a2a68-639d-4623-ad6c-71d061db302e 6 37623600 37623600 G A SNP MDGA1 ENST00000297153 human ensembl 74_37 -1 known missense c.455 p.T152M 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Ig-like_dom - no_errors MDGA1 HGNC ENSG00000112139 43 0 0 26 3 10.3448 FOXP2 0 genome.wustl.edu 37 7 114299725 114299725 + Nonsense_Mutation SNP G G A TCGA-BR-A4J4-01A-12D-A25D-08 TCGA-BR-A4J4-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e cf5a2a68-639d-4623-ad6c-71d061db302e 7 114299725 114299725 G A SNP FOXP2 ENST00000408937 human ensembl 74_37 +1 known nonsense c.1719 p.W573* 1.000 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXP2 HGNC ENSG00000128573 85 0 0 89 14 13.5922 RBM33 0 genome.wustl.edu 37 7 155499703 155499703 + Missense_Mutation SNP G G A TCGA-BR-A4J4-01A-12D-A25D-08 TCGA-BR-A4J4-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e cf5a2a68-639d-4623-ad6c-71d061db302e 7 155499703 155499703 G A SNP RBM33 ENST00000401878 human ensembl 74_37 +1 known missense c.889 p.E297K 0.980 NULL smart_RRM_dom - no_errors RBM33 HGNC ENSG00000184863 9 0 0 9 4 30.7692 TNS3 0 genome.wustl.edu 37 7 47342944 47342944 + Missense_Mutation SNP C C T TCGA-BR-A4J4-01A-12D-A25D-08 TCGA-BR-A4J4-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e cf5a2a68-639d-4623-ad6c-71d061db302e 7 47342944 47342944 C T SNP TNS3 ENST00000311160 human ensembl 74_37 -1 known missense c.3061 p.G1021S 0.122 NULL pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_dom,smart_Tyr_Pase_cat,smart_SH2,smart_PTB/PI_dom,pfscan_SH2,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TNS3 HGNC ENSG00000136205 38 0 0 27 10 27.027 IKZF1 0 genome.wustl.edu 37 7 50468286 50468286 + Silent SNP G G A TCGA-BR-A4J4-01A-12D-A25D-08 TCGA-BR-A4J4-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e cf5a2a68-639d-4623-ad6c-71d061db302e 7 50468286 50468286 G A SNP IKZF1 ENST00000331340 human ensembl 74_37 +1 known silent c.1521 p.S507 0.942 smart_Znf_C2H2-like pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors IKZF1 HGNC ENSG00000185811 68 0 0 41 5 10.8696 DTX2 0 genome.wustl.edu 37 7 76112246 76112246 + Silent SNP C C T TCGA-BR-A4J4-01A-12D-A25D-08 TCGA-BR-A4J4-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e cf5a2a68-639d-4623-ad6c-71d061db302e 7 76112246 76112246 C T SNP DTX2 ENST00000324432 human ensembl 74_37 +1 known silent c.690 p.P230 0.000 NULL pfam_WWE-dom,smart_WWE-dom_subgr,smart_Znf_RING,pfscan_WWE-dom,pfscan_Znf_RING - no_errors DTX2 HGNC ENSG00000091073 682 0 0 397 60 13.1291 ZNF706 0 genome.wustl.edu 37 8 102213962 102213962 + Missense_Mutation SNP C C G TCGA-BR-A4J4-01A-12D-A25D-08 TCGA-BR-A4J4-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e cf5a2a68-639d-4623-ad6c-71d061db302e 8 102213962 102213962 C G SNP ZNF706 ENST00000311212 human ensembl 74_37 -1 known missense c.8 p.R3P 1.000 pfam_Uncharacterised_SERF pfam_Uncharacterised_SERF - no_errors ZNF706 HGNC ENSG00000120963 60 0 0 44 7 13.7255 ZFPM2 0 genome.wustl.edu 37 8 106800947 106800947 + Silent SNP G G A TCGA-BR-A4J4-01A-12D-A25D-08 TCGA-BR-A4J4-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e cf5a2a68-639d-4623-ad6c-71d061db302e 8 106800947 106800947 G A SNP ZFPM2 ENST00000407775 human ensembl 74_37 +1 known silent c.534 p.G178 0.996 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFPM2 HGNC ENSG00000169946 126 0 0 77 23 23 JRK 0 genome.wustl.edu 37 8 143745736 143745736 + RNA SNP A A T TCGA-BR-A4J4-01A-12D-A25D-08 TCGA-BR-A4J4-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e cf5a2a68-639d-4623-ad6c-71d061db302e 8 143745736 143745736 A T SNP JRK ENST00000507178 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors JRK HGNC ENSG00000234616 26 0 0 11 3 21.4286 OSGIN2 0 genome.wustl.edu 37 8 90937640 90937640 + Silent SNP T T G TCGA-BR-A4J4-01A-12D-A25D-08 TCGA-BR-A4J4-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e cf5a2a68-639d-4623-ad6c-71d061db302e 8 90937640 90937640 T G SNP OSGIN2 ENST00000451899 human ensembl 74_37 +1 known silent c.1530 p.V510 0.247 NULL NULL - no_errors OSGIN2 HGNC ENSG00000164823 152 0 0 92 64 41.0256 RNF20 0 genome.wustl.edu 37 9 104317113 104317113 + Silent SNP C C A TCGA-BR-A4J4-01A-12D-A25D-08 TCGA-BR-A4J4-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e cf5a2a68-639d-4623-ad6c-71d061db302e 9 104317113 104317113 C A SNP RNF20 ENST00000389120 human ensembl 74_37 +1 known silent c.2157 p.A719 0.969 NULL superfamily_STAT_TF_coiled-coil,superfamily_Prefoldin,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF20 HGNC ENSG00000155827 62 0 0 45 4 8.16327 CRB2 0 genome.wustl.edu 37 9 126133738 126133738 + Missense_Mutation SNP G G A TCGA-BR-A4J4-01A-12D-A25D-08 TCGA-BR-A4J4-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e cf5a2a68-639d-4623-ad6c-71d061db302e 9 126133738 126133738 G A SNP CRB2 ENST00000373631 human ensembl 74_37 +1 known missense c.2317 p.D773N 0.979 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_EG-like_dom,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors CRB2 HGNC ENSG00000148204 135 0 0 114 23 16.7883 COL5A1 0 genome.wustl.edu 37 9 137716542 137716542 + Missense_Mutation SNP G G A TCGA-BR-A4J4-01A-12D-A25D-08 TCGA-BR-A4J4-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e cf5a2a68-639d-4623-ad6c-71d061db302e 9 137716542 137716542 G A SNP COL5A1 ENST00000371817 human ensembl 74_37 +1 known missense c.4795 p.E1599K 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL5A1 HGNC ENSG00000130635 153 0 0 97 15 13.3929 SLC34A3 0 genome.wustl.edu 37 9 140130522 140130522 + Missense_Mutation SNP G G A TCGA-BR-A4J4-01A-12D-A25D-08 TCGA-BR-A4J4-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e cf5a2a68-639d-4623-ad6c-71d061db302e 9 140130522 140130522 G A SNP SLC34A3 ENST00000361134 human ensembl 74_37 +1 known missense c.1454 p.R485H 1.000 tigrfam_Na/Pi_transpt pfam_Na/Pi_transpt,tigrfam_Na/Pi_transpt - no_errors SLC34A3 HGNC ENSG00000198569 137 0 0 81 18 18.1818 SPIN1 0 genome.wustl.edu 37 9 91083396 91083396 + Silent SNP C C T TCGA-BR-A4J4-01A-12D-A25D-08 TCGA-BR-A4J4-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e cf5a2a68-639d-4623-ad6c-71d061db302e 9 91083396 91083396 C T SNP SPIN1 ENST00000375859 human ensembl 74_37 +1 known silent c.465 p.V155 0.998 pfam_Spin_Ssty pfam_Spin_Ssty - no_errors SPIN1 HGNC ENSG00000106723 102 0 0 69 21 23.3333 MT-CO1 0 genome.wustl.edu 37 MT 6028 6028 + Missense_Mutation SNP G G A TCGA-BR-A4J4-01A-12D-A25D-08 TCGA-BR-A4J4-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e cf5a2a68-639d-4623-ad6c-71d061db302e MT 6028 6028 G A SNP MT-CO1 ENST00000361624 human ensembl 74_37 +1 known missense c.125 p.G42D NULL pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1 - no_errors MT-CO1 HGNC ENSG00000198804 81 0 0 0 2 100 WWC3 0 genome.wustl.edu 37 X 10058819 10058819 + Missense_Mutation SNP G G A TCGA-BR-A4J4-01A-12D-A25D-08 TCGA-BR-A4J4-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e cf5a2a68-639d-4623-ad6c-71d061db302e X 10058819 10058819 G A SNP WWC3 ENST00000380861 human ensembl 74_37 +1 known missense c.386 p.R129Q 1.000 NULL superfamily_C2_dom - no_errors WWC3 HGNC ENSG00000047644 40 0 0 19 11 36.6667 MUM1L1 0 genome.wustl.edu 37 X 105450563 105450563 + Missense_Mutation SNP C C T TCGA-BR-A4J4-01A-12D-A25D-08 TCGA-BR-A4J4-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c316b7e-6a82-4ba1-9f34-d8bfcf82d41e cf5a2a68-639d-4623-ad6c-71d061db302e X 105450563 105450563 C T SNP MUM1L1 ENST00000337685 human ensembl 74_37 +1 known missense c.1138 p.R380C 0.944 NULL superfamily_PyrdxlP-dep_Trfase - no_errors MUM1L1 HGNC ENSG00000157502 15 0 0 10 9 47.3684