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 PRMT6 0 genome.wustl.edu 37 1 107599750 107599750 + Missense_Mutation SNP G G T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 1 107599750 107599750 G T SNP PRMT6 ENST00000370078 human ensembl 74_37 +1 known missense c.413 p.G138V 0.656 pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Arg_MeTrfase,pfam_Methyltransf_11,pfam_mo5U34_MeTrfas-like,pfam_Small_mtfrase_dom,pfam_tRNA_Trfase_Trm5/Tyw2 pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Arg_MeTrfase,pfam_Methyltransf_11,pfam_mo5U34_MeTrfas-like,pfam_Small_mtfrase_dom,pfam_tRNA_Trfase_Trm5/Tyw2 - no_errors PRMT6 HGNC ENSG00000198890 209 0 0 51 22 30.137 OVGP1 0 genome.wustl.edu 37 1 111957788 111957788 + Silent SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 1 111957788 111957788 G A SNP OVGP1 ENST00000369732 human ensembl 74_37 -1 known silent c.1335 p.T445 0.000 NULL pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II - no_errors OVGP1 HGNC ENSG00000085465 160 0 0 35 6 14.6341 PRAMEF19 0 genome.wustl.edu 37 1 13695903 13695903 + Silent SNP G G T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 1 13695903 13695903 G T SNP PRAMEF19 ENST00000540591 human ensembl 74_37 -1 known silent c.1062 p.L354 0.004 NULL NULL - no_errors PRAMEF19 HGNC ENSG00000204480 681 1 0.146628 226 47 17.2161 TCHHL1 0 genome.wustl.edu 37 1 152057468 152057468 + Missense_Mutation SNP C C T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 1 152057468 152057468 C T SNP TCHHL1 ENST00000368806 human ensembl 74_37 -1 known missense c.2690 p.R897K 0.000 NULL pfam_S100_Ca-bd_sub - no_errors TCHHL1 HGNC ENSG00000182898 212 1 0.469484 88 18 16.9811 FLG 0 genome.wustl.edu 37 1 152279060 152279060 + Missense_Mutation SNP C C G TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 1 152279060 152279060 C G SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.8302 p.E2768Q 0.001 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 1372 0 0 931 59 5.9596 FLG2 0 genome.wustl.edu 37 1 152323407 152323407 + Missense_Mutation SNP C C A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 1 152323407 152323407 C A SNP FLG2 ENST00000388718 human ensembl 74_37 -1 known missense c.6855 p.Q2285H 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG2 HGNC ENSG00000143520 438 0 0 223 49 18.0147 KPRP 0 genome.wustl.edu 37 1 152733756 152733756 + Silent SNP C C A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 1 152733756 152733756 C A SNP KPRP ENST00000368773 human ensembl 74_37 +1 known silent c.1692 p.G564 0.001 NULL NULL - no_errors KPRP HGNC ENSG00000203786 109 0 0 25 30 54.5455 LMNA 0 genome.wustl.edu 37 1 156106821 156106821 + Splice_Site SNP T T G TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 1 156106821 156106821 T G SNP LMNA ENST00000368300 human ensembl 74_37 +1 known splice_site c.1488+2 e8+2 1.000 - - - no_errors LMNA HGNC ENSG00000160789 75 0 0 42 5 10.6383 FCRL5 0 genome.wustl.edu 37 1 157494243 157494243 + Missense_Mutation SNP T T G TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 1 157494243 157494243 T G SNP FCRL5 ENST00000356953 human ensembl 74_37 -1 known missense c.2065 p.I689L 0.403 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCRL5 HGNC ENSG00000143297 147 0 0 77 17 18.0851 LOC100131825 0 genome.wustl.edu 37 1 159166667 159166667 + RNA SNP G G T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 1 159166667 159166667 G T SNP LOC100131825 ENST00000415675 human ensembl 74_37 -1 known rna NULL NULL 0.650 - - - no_errors CTA-134P22.2 Clone_based_vega_gene ENSG00000225670 114 0 0 45 6 11.7647 OR10J3 0 genome.wustl.edu 37 1 159284097 159284097 + Missense_Mutation SNP A A G TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 1 159284097 159284097 A G SNP OR10J3 ENST00000332217 human ensembl 74_37 -1 known missense c.353 p.V118A 0.658 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10J3 HGNC ENSG00000196266 157 0 0 77 17 18.0851 CLCNKB 0 genome.wustl.edu 37 1 16374433 16374433 + Missense_Mutation SNP C C T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 1 16374433 16374433 C T SNP CLCNKB ENST00000375679 human ensembl 74_37 +1 known missense c.392 p.A131V 0.016 pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core,prints_Cl-channel_volt-gated pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,smart_CBS_dom,prints_Cl-channel_volt-gated,prints_Cl_channel-K - no_errors CLCNKB HGNC ENSG00000184908 177 0 0 34 30 46.875 MAEL 0 genome.wustl.edu 37 1 166985522 166985522 + Splice_Site SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 1 166985522 166985522 G A SNP MAEL ENST00000367872 human ensembl 74_37 +1 known splice_site c.908+1 e9+1 1.000 - - - no_errors MAEL HGNC ENSG00000143194 141 0 0 41 9 18 SUCO 0 genome.wustl.edu 37 1 172579318 172579318 + Silent SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 1 172579318 172579318 G A SNP SUCO ENST00000608151 human ensembl 74_37 +1 known silent c.4140 p.P1380 0.998 NULL pfam_Sad1_UNC_C,superfamily_Galactose-bd-like - no_errors SUCO HGNC ENSG00000094975 84 0 0 37 9 19.5652 PADI4 0 genome.wustl.edu 37 1 17690151 17690151 + Silent SNP C C T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 1 17690151 17690151 C T SNP PADI4 ENST00000375448 human ensembl 74_37 +1 known silent c.1893 p.N631 0.517 pfam_PAD_C,pirsf_Protein-arginine_deiminase_sub pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub - no_errors PADI4 HGNC ENSG00000159339 75 0 0 29 8 21.6216 ASTN1 0 genome.wustl.edu 37 1 176915143 176915143 + Missense_Mutation SNP G G T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 1 176915143 176915143 G T SNP ASTN1 ENST00000367654 human ensembl 74_37 -1 known missense c.2192 p.T731N 1.000 NULL superfamily_Fibronectin_type3,smart_EG-like_dom,smart_MACPF,pfscan_Fibronectin_type3 - no_errors ASTN1 HGNC ENSG00000152092 193 0 0 39 38 49.3506 HMCN1 0 genome.wustl.edu 37 1 186101509 186101509 + Missense_Mutation SNP T T A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 1 186101509 186101509 T A SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known missense c.13280 p.V4427E 1.000 pfam_Ig_I-set,smart_Ig_sub,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 49 0 0 14 5 26.3158 TMCC2 0 genome.wustl.edu 37 1 205211050 205211050 + Missense_Mutation SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 1 205211050 205211050 G A SNP TMCC2 ENST00000358024 human ensembl 74_37 +1 known missense c.625 p.A209T 1.000 NULL pfam_Predicted_TM_coiled-coil_2,superfamily_t-SNARE - no_errors TMCC2 HGNC ENSG00000133069 36 0 0 14 13 48.1481 GNPAT 0 genome.wustl.edu 37 1 231401890 231401890 + Silent SNP T T G TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 1 231401890 231401890 T G SNP GNPAT ENST00000366647 human ensembl 74_37 +1 known silent c.903 p.P301 0.997 NULL pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase - no_errors GNPAT HGNC ENSG00000116906 155 0 0 59 9 13.2353 ERO1LB 0 genome.wustl.edu 37 1 236385276 236385276 + Missense_Mutation SNP C C T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 1 236385276 236385276 C T SNP ERO1LB ENST00000354619 human ensembl 74_37 -1 known missense c.1157 p.R386H 1.000 pfam_Ero1,pirsf_Ero1 pfam_Ero1,pirsf_Ero1 - no_errors ERO1LB HGNC ENSG00000086619 81 0 0 29 6 17.1429 OR2G2 0 genome.wustl.edu 37 1 247752051 247752051 + Nonsense_Mutation SNP C C A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 1 247752051 247752051 C A SNP OR2G2 ENST00000320065 human ensembl 74_37 +1 known nonsense c.390 p.C130* 0.053 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2G2 HGNC ENSG00000177489 319 0 0 138 28 16.8675 HMGB4 0 genome.wustl.edu 37 1 34329993 34329993 + Missense_Mutation SNP C C A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 1 34329993 34329993 C A SNP HMGB4 ENST00000519684 human ensembl 74_37 +1 known missense c.201 p.D67E 1.000 pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors HMGB4 HGNC ENSG00000176256 281 1 0.35461 74 22 22.9167 C1orf216 0 genome.wustl.edu 37 1 36181267 36181267 + Missense_Mutation SNP C C G TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 1 36181267 36181267 C G SNP C1orf216 ENST00000270815 human ensembl 74_37 -1 known missense c.656 p.R219T 0.999 NULL NULL - no_errors C1orf216 HGNC ENSG00000142686 136 0 0 40 18 31.0345 TP73 0 genome.wustl.edu 37 1 3638768 3638768 + Nonsense_Mutation SNP G G T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 1 3638768 3638768 G T SNP TP73 ENST00000378295 human ensembl 74_37 +1 known nonsense c.613 p.E205* 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_SAM_2,superfamily_p53-like_TF_DNA-bd,superfamily_SAM/pointed,superfamily_p53_tetrameristn,smart_SAM,prints_p53_tumour_suppressor - no_errors TP73 HGNC ENSG00000078900 76 0 0 18 8 30.7692 MTF1 0 genome.wustl.edu 37 1 38288031 38288031 + Missense_Mutation SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 1 38288031 38288031 G A SNP MTF1 ENST00000373036 human ensembl 74_37 -1 known missense c.1529 p.A510V 0.999 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors MTF1 HGNC ENSG00000188786 62 0 0 26 6 18.75 ENSG00000230615 0 genome.wustl.edu 37 1 44569151 44569151 + RNA SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 1 44569151 44569151 G A SNP ENSG00000230615 ENST00000434244 human ensembl 74_37 +1 known rna NULL NULL 0.051 - - - no_errors RP5-1198O20.4 Clone_based_vega_gene ENSG00000230615 44 0 0 23 7 23.3333 POMGNT1 0 genome.wustl.edu 37 1 46662468 46662468 + Missense_Mutation SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 1 46662468 46662468 G A SNP POMGNT1 ENST00000371986 human ensembl 74_37 -1 known missense c.289 p.R97W 0.957 NULL pfam_Glyco_trans_13 - no_errors POMGNT1 HGNC ENSG00000085998 203 0 0 45 19 29.6875 EFCAB14 0 genome.wustl.edu 37 1 47148911 47148911 + RNA SNP A A T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 1 47148911 47148911 A T SNP EFCAB14 ENST00000459797 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors EFCAB14 HGNC ENSG00000159658 89 0 0 14 10 41.6667 LRP8 0 genome.wustl.edu 37 1 53724104 53724104 + Missense_Mutation SNP C C T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 1 53724104 53724104 C T SNP LRP8 ENST00000306052 human ensembl 74_37 -1 known missense c.2096 p.G699D 1.000 superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom 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_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP8 HGNC ENSG00000157193 163 0 0 44 17 27.8689 SEC31B 0 genome.wustl.edu 37 10 102247821 102247821 + Missense_Mutation SNP C C T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 10 102247821 102247821 C T SNP SEC31B ENST00000370345 human ensembl 74_37 -1 known missense c.3323 p.R1108H 0.930 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors SEC31B HGNC ENSG00000075826 62 0 0 15 4 21.0526 PITX3 0 genome.wustl.edu 37 10 103990823 103990823 + Silent SNP C C T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 10 103990823 103990823 C T SNP PITX3 ENST00000370002 human ensembl 74_37 -1 known silent c.357 p.K119 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pirsf_Homeobox_Pitx/unc30,pfscan_Homeobox_dom pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pirsf_Homeobox_Pitx/unc30,pfscan_OAR_dom,pfscan_Homeobox_dom - no_errors PITX3 HGNC ENSG00000107859 29 0 0 16 3 15.7895 GSTO1 0 genome.wustl.edu 37 10 106019439 106019439 + Silent SNP C C T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 10 106019439 106019439 C T SNP GSTO1 ENST00000369713 human ensembl 74_37 +1 known silent c.249 p.I83 0.972 pfam_Glutathione_S-Trfase_N,superfamily_Thioredoxin-like_fold pfam_GST_C,pfam_Glutathione_S-Trfase_N,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_GST_omega - no_errors GSTO1 HGNC ENSG00000148834 143 0 0 37 16 30.1887 SORCS3 0 genome.wustl.edu 37 10 107007078 107007078 + Missense_Mutation SNP G G C TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 10 107007078 107007078 G C SNP SORCS3 ENST00000369701 human ensembl 74_37 +1 known missense c.3094 p.A1032P 1.000 NULL pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom - no_errors SORCS3 HGNC ENSG00000156395 77 0 0 28 4 12.5 DCLRE1A 0 genome.wustl.edu 37 10 115602170 115602170 + Missense_Mutation SNP A A C TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 10 115602170 115602170 A C SNP DCLRE1A ENST00000361384 human ensembl 74_37 -1 known missense c.2597 p.V866G 1.000 NULL pfam_DRMBL - no_errors DCLRE1A HGNC ENSG00000198924 275 0 0 75 19 20.2128 INPP5F 0 genome.wustl.edu 37 10 121586986 121586986 + Silent SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 10 121586986 121586986 G A SNP INPP5F ENST00000361976 human ensembl 74_37 +1 known silent c.3093 p.A1031 0.000 NULL pfam_Syja_N,pfam_Inositol_phosphatase,pfscan_Syja_N - no_errors INPP5F HGNC ENSG00000198825 260 0 0 91 30 24.7934 CHST15 0 genome.wustl.edu 37 10 125769672 125769672 + Missense_Mutation SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 10 125769672 125769672 G A SNP CHST15 ENST00000346248 human ensembl 74_37 -1 known missense c.1679 p.T560M 0.994 NULL pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors CHST15 HGNC ENSG00000182022 92 0 0 33 4 10.8108 CTBP2 0 genome.wustl.edu 37 10 126692055 126692055 + Missense_Mutation SNP C C T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 10 126692055 126692055 C T SNP CTBP2 ENST00000309035 human ensembl 74_37 -1 known missense c.1685 p.R562H 1.000 NULL pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom - no_errors CTBP2 HGNC ENSG00000175029 44 0 0 17 5 22.7273 C10orf90 0 genome.wustl.edu 37 10 128192684 128192684 + Nonsense_Mutation SNP C C T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 10 128192684 128192684 C T SNP C10orf90 ENST00000544758 human ensembl 74_37 -1 known nonsense c.1376 p.W459* 0.797 NULL NULL - no_errors C10orf90 HGNC ENSG00000154493 117 0 0 40 8 16.6667 APBB1IP 0 genome.wustl.edu 37 10 26790049 26790049 + Missense_Mutation SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 10 26790049 26790049 G A SNP APBB1IP ENST00000356785 human ensembl 74_37 +1 known missense c.462 p.M154I 0.000 NULL NULL - no_errors APBB1IP HGNC ENSG00000077420 213 0 0 78 24 23.5294 SVIL 0 genome.wustl.edu 37 10 29839533 29839533 + Nonsense_Mutation SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 10 29839533 29839533 G A SNP SVIL ENST00000355867 human ensembl 74_37 -1 known nonsense c.820 p.R274* 0.910 NULL pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin/Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Villin/Gelsolin - no_errors SVIL HGNC ENSG00000197321 28 0 0 20 3 13.0435 C10orf128 0 genome.wustl.edu 37 10 50374978 50374978 + Missense_Mutation SNP C C T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 10 50374978 50374978 C T SNP C10orf128 ENST00000374151 human ensembl 74_37 -1 known missense c.174 p.M58I 1.000 NULL NULL - no_errors C10orf128 HGNC ENSG00000204161 139 0 0 51 9 15 ERCC6 0 genome.wustl.edu 37 10 50690777 50690777 + Missense_Mutation SNP C C T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 10 50690777 50690777 C T SNP ERCC6 ENST00000355832 human ensembl 74_37 -1 known missense c.2125 p.V709I 1.000 pfam_SNF2_N,superfamily_P-loop_NTPase pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ERCC6 HGNC ENSG00000225830 122 0 0 24 20 45.4545 LRRTM3 0 genome.wustl.edu 37 10 68687592 68687592 + Missense_Mutation SNP C C A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 10 68687592 68687592 C A SNP LRRTM3 ENST00000361320 human ensembl 74_37 +1 known missense c.918 p.D306E 1.000 NULL pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRTM3 HGNC ENSG00000198739 219 0 0 72 11 13.253 CDH23 0 genome.wustl.edu 37 10 73437442 73437442 + Missense_Mutation SNP C C T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 10 73437442 73437442 C T SNP CDH23 ENST00000224721 human ensembl 74_37 +1 putative missense c.1759 p.R587W 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH23 HGNC ENSG00000107736 8 0 0 6 3 33.3333 ITIH5 0 genome.wustl.edu 37 10 7683969 7683969 + Missense_Mutation SNP G G T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 10 7683969 7683969 G T SNP ITIH5 ENST00000256861 human ensembl 74_37 -1 known missense c.220 p.L74M 0.990 pfam_VIT,smart_VIT pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH5 HGNC ENSG00000123243 145 0 0 53 8 13.1148 HELLS 0 genome.wustl.edu 37 10 96341223 96341223 + Silent SNP A A G TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 10 96341223 96341223 A G SNP HELLS ENST00000371332 human ensembl 74_37 +1 known silent c.1173 p.S391 1.000 pfam_SNF2_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors HELLS HGNC ENSG00000119969 52 0 0 19 2 9.52381 NLRX1 0 genome.wustl.edu 37 11 119044606 119044606 + Silent SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 11 119044606 119044606 G A SNP NLRX1 ENST00000292199 human ensembl 74_37 +1 known silent c.648 p.V216 1.000 superfamily_P-loop_NTPase,pfscan_NACHT_NTPase superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase - no_errors NLRX1 HGNC ENSG00000160703 84 0 0 44 16 26.6667 TECTA 0 genome.wustl.edu 37 11 121023647 121023647 + Missense_Mutation SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 11 121023647 121023647 G A SNP TECTA ENST00000264037 human ensembl 74_37 +1 known missense c.4163 p.R1388H 1.000 pfam_TIL_dom,superfamily_TIL_dom,smart_EG-like_dom pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_ZP_dom,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_ZP_dom,pfscan_ZP_dom - no_errors TECTA HGNC ENSG00000109927 139 0 0 56 16 22.2222 SLC5A12 0 genome.wustl.edu 37 11 26720006 26720006 + Missense_Mutation SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 11 26720006 26720006 G A SNP SLC5A12 ENST00000396005 human ensembl 74_37 -1 known missense c.898 p.H300Y 0.005 pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A12 HGNC ENSG00000148942 133 0 0 39 10 20.4082 CCDC34 0 genome.wustl.edu 37 11 27371796 27371796 + Nonstop_Mutation SNP T T G TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 11 27371796 27371796 T G SNP CCDC34 ENST00000317945 human ensembl 74_37 -1 known nonstop c.689 p.*230S 0.000 NULL NULL - no_errors CCDC34 HGNC ENSG00000109881 108 0 0 25 11 30.5556 LGR4 0 genome.wustl.edu 37 11 27393907 27393907 + Missense_Mutation SNP A A T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 11 27393907 27393907 A T SNP LGR4 ENST00000379214 human ensembl 74_37 -1 known missense c.1418 p.F473Y 1.000 NULL pfam_Leu-rich_rpt,pfam_GPCR_Rhodpsn,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,pfscan_GPCR_Rhodpsn_7TM,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn - no_errors LGR4 HGNC ENSG00000205213 137 0 0 39 7 15.2174 OR4A5 0 genome.wustl.edu 37 11 51412296 51412296 + Missense_Mutation SNP A A C TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 11 51412296 51412296 A C SNP OR4A5 ENST00000319760 human ensembl 74_37 -1 known missense c.100 p.L34V 0.028 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4A5 HGNC ENSG00000221840 71 0 0 33 9 21.4286 OR52A4 0 genome.wustl.edu 37 11 5142935 5142935 + RNA SNP T T A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 11 5142935 5142935 T A SNP OR52A4 ENST00000481634 human ensembl 74_37 -1 known rna NULL NULL 0.035 - - - no_errors OR52A4 HGNC ENSG00000205494 10 0 0 7 5 41.6667 OR5D18 0 genome.wustl.edu 37 11 55587542 55587542 + Missense_Mutation SNP T T G TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 11 55587542 55587542 T G SNP OR5D18 ENST00000333976 human ensembl 74_37 +1 known missense c.437 p.V146G 0.005 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5D18 HGNC ENSG00000186119 290 1 0.343643 101 15 12.931 SUV420H1 0 genome.wustl.edu 37 11 67938756 67938756 + Silent SNP G G T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 11 67938756 67938756 G T SNP SUV420H1 ENST00000441488 human ensembl 74_37 -1 known silent c.828 p.I276 0.272 NULL NULL - no_errors SUV420H1 HGNC ENSG00000110066 51 0 0 20 2 9.09091 TENM4 0 genome.wustl.edu 37 11 78381536 78381536 + Missense_Mutation SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 11 78381536 78381536 G A SNP TENM4 ENST00000278550 human ensembl 74_37 -1 known missense c.5854 p.R1952C 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM4 HGNC ENSG00000149256 148 0 0 33 27 45 FAT3 0 genome.wustl.edu 37 11 92088390 92088390 + Missense_Mutation SNP C C T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 11 92088390 92088390 C T SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known missense c.3112 p.L1038F 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 75 0 0 24 7 22.5806 ANKS1B 0 genome.wustl.edu 37 12 100200244 100200244 + Missense_Mutation SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 12 100200244 100200244 G A SNP ANKS1B ENST00000329257 human ensembl 74_37 -1 known missense c.607 p.R203C 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_PTB/PI_dom,pfam_SAM_2,pfam_PTB,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,smart_PTB/PI_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PTB/PI_dom,pfscan_SAM,prints_Ankyrin_rpt - no_errors ANKS1B HGNC ENSG00000185046 86 0 0 26 14 35 DAO 0 genome.wustl.edu 37 12 109278977 109278977 + Splice_Site SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 12 109278977 109278977 G A SNP DAO ENST00000228476 human ensembl 74_37 +1 known splice_site c.194+1 e1+1 1.000 - - - no_errors DAO HGNC ENSG00000110887 161 0 0 86 21 19.6262 TPCN1 0 genome.wustl.edu 37 12 113706632 113706632 + Missense_Mutation SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 12 113706632 113706632 G A SNP TPCN1 ENST00000541517 human ensembl 74_37 +1 known missense c.830 p.R277H 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom - no_errors TPCN1 HGNC ENSG00000186815 83 0 0 17 19 52.7778 PRB2 0 genome.wustl.edu 37 12 11546745 11546745 + Silent SNP A A C TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 12 11546745 11546745 A C SNP PRB2 ENST00000389362 human ensembl 74_37 -1 known silent c.267 p.P89 0.278 NULL NULL - no_errors PRB2 HGNC ENSG00000121335 914 0 0 408 58 12.4464 EMP1 0 genome.wustl.edu 37 12 13366432 13366432 + Missense_Mutation SNP C C T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 12 13366432 13366432 C T SNP EMP1 ENST00000256951 human ensembl 74_37 +1 known missense c.98 p.T33M 0.000 pfam_PMP22/EMP/MP20/Claudin,prints_EMP_1 pfam_PMP22/EMP/MP20/Claudin,prints_PMP22_EMP_MP20,prints_EMP_1 - no_errors EMP1 HGNC ENSG00000134531 102 0 0 29 8 21.6216 ATF7IP 0 genome.wustl.edu 37 12 14613718 14613718 + Missense_Mutation SNP C C A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 12 14613718 14613718 C A SNP ATF7IP ENST00000261168 human ensembl 74_37 +1 known missense c.2448 p.F816L 1.000 NULL superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors ATF7IP HGNC ENSG00000171681 181 0 0 44 26 37.1429 LDHB 0 genome.wustl.edu 37 12 21807507 21807507 + Silent SNP A A T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 12 21807507 21807507 A T SNP LDHB ENST00000350669 human ensembl 74_37 -1 known silent c.99 p.G33 0.515 pfam_Lactate/malate_DH_N,pirsf_L-lactate/malate_DH,prints_L-lactate/malate_DH,tigrfam_L-lactate_DH pfam_Lactate/malate_DH_N,pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,prints_L-lactate/malate_DH,tigrfam_L-lactate_DH - no_errors LDHB HGNC ENSG00000111716 203 0 0 54 13 19.403 IFLTD1 0 genome.wustl.edu 37 12 25702400 25702400 + Missense_Mutation SNP A A C TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 12 25702400 25702400 A C SNP IFLTD1 ENST00000458174 human ensembl 74_37 -1 known missense c.170 p.L57W 0.000 NULL pfam_Lamin_tail_dom - no_errors IFLTD1 HGNC ENSG00000152936 130 0 0 29 10 25.641 CNTN1 0 genome.wustl.edu 37 12 41386999 41386999 + Missense_Mutation SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 12 41386999 41386999 G A SNP CNTN1 ENST00000347616 human ensembl 74_37 +1 known missense c.2041 p.V681M 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,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 CNTN1 HGNC ENSG00000018236 134 0 0 44 13 22.807 KRT74 0 genome.wustl.edu 37 12 52967407 52967407 + Missense_Mutation SNP C C A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 12 52967407 52967407 C A SNP KRT74 ENST00000305620 human ensembl 74_37 -1 known missense c.155 p.S52I 0.233 NULL pfam_IF,prints_Keratin_II - no_errors KRT74 HGNC ENSG00000170484 133 0 0 37 31 45.5882 HOXC4 0 genome.wustl.edu 37 12 54447817 54447817 + Silent SNP C C T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 12 54447817 54447817 C T SNP HOXC4 ENST00000430889 human ensembl 74_37 +1 known silent c.111 p.Y37 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_Homeobox_antennapedia - no_errors HOXC4 Uniprot_gn ENSG00000273266 384 0 0 128 51 28.4916 NCKAP1L 0 genome.wustl.edu 37 12 54932722 54932722 + Silent SNP A A C TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 12 54932722 54932722 A C SNP NCKAP1L ENST00000293373 human ensembl 74_37 +1 known silent c.3238 p.R1080 0.998 pfam_Nck-associated_protein-1 pfam_Nck-associated_protein-1,superfamily_Nucl_hormone_rcpt_ligand-bd - no_errors NCKAP1L HGNC ENSG00000123338 95 0 0 27 8 22.8571 TRHDE 0 genome.wustl.edu 37 12 72956687 72956687 + Missense_Mutation SNP A A T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 12 72956687 72956687 A T SNP TRHDE ENST00000261180 human ensembl 74_37 +1 known missense c.1774 p.T592S 1.000 NULL pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors TRHDE HGNC ENSG00000072657 131 0 0 30 18 37.5 NALCN 0 genome.wustl.edu 37 13 101759837 101759837 + Splice_Site SNP C C T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 13 101759837 101759837 C T SNP NALCN ENST00000251127 human ensembl 74_37 -1 known splice_site c.2579+1 e21+1 1.000 - - - no_errors NALCN HGNC ENSG00000102452 125 0 0 55 10 15.3846 COL4A1 0 genome.wustl.edu 37 13 110804813 110804813 + Missense_Mutation SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 13 110804813 110804813 G A SNP COL4A1 ENST00000375820 human ensembl 74_37 -1 known missense c.4796 p.A1599V 1.000 pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A1 HGNC ENSG00000187498 30 0 0 26 6 18.75 MLNR 0 genome.wustl.edu 37 13 49795146 49795146 + Missense_Mutation SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 13 49795146 49795146 G A SNP MLNR ENST00000218721 human ensembl 74_37 +1 known missense c.673 p.A225T 0.004 pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_GHS-R - no_errors MLNR HGNC ENSG00000102539 34 0 0 13 32 71.1111 DZIP1 0 genome.wustl.edu 37 13 96237002 96237002 + Missense_Mutation SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 13 96237002 96237002 G A SNP DZIP1 ENST00000347108 human ensembl 74_37 -1 known missense c.2512 p.P838S 0.001 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors DZIP1 HGNC ENSG00000134874 271 0 0 106 27 20.3008 SNORD9 0 genome.wustl.edu 37 14 21860369 21860369 + RNA SNP C C T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 14 21860369 21860369 C T SNP SNORD9 ENST00000362566 human ensembl 74_37 -1 known rna NULL NULL 0.776 - - - no_errors SNORD9 HGNC ENSG00000199436 102 0 0 45 12 21.0526 SOS2 0 genome.wustl.edu 37 14 50628209 50628209 + Missense_Mutation SNP C C T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 14 50628209 50628209 C T SNP SOS2 ENST00000216373 human ensembl 74_37 -1 known missense c.1187 p.R396H 0.999 superfamily_DH-domain pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Histone_core_D,superfamily_Ras_GEF_dom,superfamily_Histone-fold,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors SOS2 HGNC ENSG00000100485 123 1 0.806452 72 8 10 KCNH5 0 genome.wustl.edu 37 14 63447746 63447746 + Silent SNP G G T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 14 63447746 63447746 G T SNP KCNH5 ENST00000322893 human ensembl 74_37 -1 known silent c.786 p.I262 0.962 pfam_Ion_trans_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_cNMP-bd_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH5 HGNC ENSG00000140015 94 0 0 37 10 21.2766 PLEKHG3 0 genome.wustl.edu 37 14 65197573 65197573 + Missense_Mutation SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 14 65197573 65197573 G A SNP PLEKHG3 ENST00000394691 human ensembl 74_37 +1 known missense c.623 p.R208Q 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG3 HGNC ENSG00000126822 75 0 0 31 8 20.5128 SIPA1L1 0 genome.wustl.edu 37 14 72055143 72055143 + Missense_Mutation SNP T T A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 14 72055143 72055143 T A SNP SIPA1L1 ENST00000555818 human ensembl 74_37 +1 known missense c.554 p.V185E 1.000 NULL pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L1 HGNC ENSG00000197555 158 0 0 64 22 25.5814 SAMD15 0 genome.wustl.edu 37 14 77844277 77844277 + Silent SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 14 77844277 77844277 G A SNP SAMD15 ENST00000216471 human ensembl 74_37 +1 known silent c.516 p.S172 0.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors SAMD15 HGNC ENSG00000100583 203 0 0 141 37 20.7865 FLRT2 0 genome.wustl.edu 37 14 86088325 86088325 + Missense_Mutation SNP G G T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 14 86088325 86088325 G T SNP FLRT2 ENST00000330753 human ensembl 74_37 +1 known missense c.467 p.R156L 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_Fibronectin_type3,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Fibronectin_type3 - no_errors FLRT2 HGNC ENSG00000185070 90 0 0 32 9 21.9512 SNHG14 0 genome.wustl.edu 37 15 25304862 25304862 + RNA SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 15 25304862 25304862 G A SNP SNHG14 ENST00000549804 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SNHG14 HGNC ENSG00000224078 72 0 0 20 11 35.4839 ATP10A 0 genome.wustl.edu 37 15 25959366 25959366 + Missense_Mutation SNP T T G TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 15 25959366 25959366 T G SNP ATP10A ENST00000356865 human ensembl 74_37 -1 known missense c.1799 p.K600T 1.000 superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP10A HGNC ENSG00000206190 103 0 0 42 5 10.6383 HERC2 0 genome.wustl.edu 37 15 28473509 28473509 + Silent SNP T T C TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 15 28473509 28473509 T C SNP HERC2 ENST00000261609 human ensembl 74_37 -1 known silent c.5319 p.S1773 0.004 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens - no_errors HERC2 HGNC ENSG00000128731 59 0 0 26 5 16.129 RYR3 0 genome.wustl.edu 37 15 33855184 33855184 + Silent SNP T T G TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 15 33855184 33855184 T G SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known silent c.1119 p.T373 0.035 pfam_MIR_motif,superfamily_MIR_motif pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 202 0 0 61 17 21.7949 RYR3 0 genome.wustl.edu 37 15 33925173 33925173 + Missense_Mutation SNP A A G TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 15 33925173 33925173 A G SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known missense c.2891 p.K964R 1.000 pfam_Ryanodine_rcpt pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 112 0 0 32 7 17.9487 TMC3 0 genome.wustl.edu 37 15 81625267 81625267 + Silent SNP G G T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 15 81625267 81625267 G T SNP TMC3 ENST00000359440 human ensembl 74_37 -1 known silent c.2796 p.V932 0.000 NULL pfam_TMC - no_errors TMC3 HGNC ENSG00000188869 67 0 0 33 15 31.25 TPSAB1 0 genome.wustl.edu 37 16 1291454 1291454 + Missense_Mutation SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 16 1291454 1291454 G A SNP TPSAB1 ENST00000338844 human ensembl 74_37 +1 known missense c.253 p.A85T 0.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors TPSAB1 HGNC ENSG00000172236 18 0 0 11 3 21.4286 CLCN7 0 genome.wustl.edu 37 16 1500502 1500502 + Missense_Mutation SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 16 1500502 1500502 G A SNP CLCN7 ENST00000382745 human ensembl 74_37 -1 known missense c.1613 p.A538V 0.911 pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,smart_CBS_dom,prints_Cl-channel_volt-gated,prints_Cl_channel-7 - no_errors CLCN7 HGNC ENSG00000103249 23 0 0 11 4 26.6667 HS3ST6 0 genome.wustl.edu 37 16 1961987 1961987 + Silent SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 16 1961987 1961987 G A SNP HS3ST6 ENST00000293937 human ensembl 74_37 -1 known silent c.633 p.H211 0.966 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors HS3ST6 HGNC ENSG00000162040 60 0 0 30 12 28.5714 ACSM2A 0 genome.wustl.edu 37 16 20491926 20491926 + Missense_Mutation SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 16 20491926 20491926 G A SNP ACSM2A ENST00000219054 human ensembl 74_37 +1 known missense c.1313 p.R438Q 0.683 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSM2A HGNC ENSG00000183747 274 0 0 78 23 22.7723 ITGAL 0 genome.wustl.edu 37 16 30506112 30506112 + Missense_Mutation SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 16 30506112 30506112 G A SNP ITGAL ENST00000356798 human ensembl 74_37 +1 known missense c.1444 p.A482T 1.000 smart_Int_alpha_beta-p pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,prints_Integrin_alpha,pfscan_VWF_A - no_errors ITGAL HGNC ENSG00000005844 152 0 0 61 11 15.2778 THOC6 0 genome.wustl.edu 37 16 3076271 3076271 + Missense_Mutation SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 16 3076271 3076271 G A SNP THOC6 ENST00000326266 human ensembl 74_37 +1 known missense c.344 p.R115H 0.003 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors THOC6 HGNC ENSG00000131652 87 0 0 30 23 43.3962 NKD1 0 genome.wustl.edu 37 16 50667336 50667336 + Missense_Mutation SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 16 50667336 50667336 G A SNP NKD1 ENST00000268459 human ensembl 74_37 +1 known missense c.1057 p.G353S 0.998 NULL pfscan_EF_hand_dom - no_errors NKD1 HGNC ENSG00000140807 127 0 0 62 11 15.0685 C16orf89 0 genome.wustl.edu 37 16 5112558 5112558 + Missense_Mutation SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 16 5112558 5112558 G A SNP C16orf89 ENST00000350219 human ensembl 74_37 -1 known missense c.340 p.R114W 0.114 NULL NULL - no_errors C16orf89 HGNC ENSG00000153446 135 0 0 29 5 14.7059 CCDC135 0 genome.wustl.edu 37 16 57756726 57756726 + Missense_Mutation SNP C C T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 16 57756726 57756726 C T SNP CCDC135 ENST00000360716 human ensembl 74_37 +1 known missense c.1381 p.R461C 0.957 NULL NULL - no_errors CCDC135 HGNC ENSG00000159625 127 0 0 70 21 23.0769 CDH8 0 genome.wustl.edu 37 16 62055298 62055298 + Silent SNP G G T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 16 62055298 62055298 G T SNP CDH8 ENST00000577390 human ensembl 74_37 -1 known silent c.10 p.R4 1.000 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH8 HGNC ENSG00000150394 138 0 0 38 17 30.9091 CES2 0 genome.wustl.edu 37 16 66974528 66974528 + Missense_Mutation SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 16 66974528 66974528 G A SNP CES2 ENST00000317091 human ensembl 74_37 +1 known missense c.938 p.G313E 0.030 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CES2 HGNC ENSG00000172831 147 0 0 75 22 22.6804 TSNAXIP1 0 genome.wustl.edu 37 16 67860070 67860070 + Missense_Mutation SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 16 67860070 67860070 G A SNP TSNAXIP1 ENST00000388833 human ensembl 74_37 +1 known missense c.998 p.G333D 0.993 NULL NULL - no_errors TSNAXIP1 HGNC ENSG00000102904 72 0 0 41 7 14.5833 CDH13 0 genome.wustl.edu 37 16 83781732 83781732 + Missense_Mutation SNP C C A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 16 83781732 83781732 C A SNP CDH13 ENST00000566620 human ensembl 74_37 +1 known missense c.1558 p.P520T 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH13 HGNC ENSG00000140945 316 0 0 96 25 20.6612 LMF1 0 genome.wustl.edu 37 16 904564 904564 + Missense_Mutation SNP C C A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 16 904564 904564 C A SNP LMF1 ENST00000262301 human ensembl 74_37 -1 known missense c.1672 p.D558Y 0.787 NULL pfam_LMF - no_errors LMF1 HGNC ENSG00000103227 23 0 0 15 4 21.0526 C16orf72 0 genome.wustl.edu 37 16 9210632 9210632 + Missense_Mutation SNP G G T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 16 9210632 9210632 G T SNP C16orf72 ENST00000327827 human ensembl 74_37 +1 known missense c.691 p.D231Y 1.000 NULL NULL - no_errors C16orf72 HGNC ENSG00000182831 223 0 0 68 24 26.087 ACACA 0 genome.wustl.edu 37 17 35545334 35545334 + Silent SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 17 35545334 35545334 G A SNP ACACA ENST00000353139 human ensembl 74_37 -1 known silent c.4659 p.N1553 1.000 pfam_AcCoA_COase_cen pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_carboxylate-amine,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl - no_errors ACACA HGNC ENSG00000132142 109 0 0 60 8 11.7647 TCAP 0 genome.wustl.edu 37 17 37822027 37822027 + Missense_Mutation SNP T T C TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 17 37822027 37822027 T C SNP TCAP ENST00000309889 human ensembl 74_37 +1 known missense c.169 p.C57R 1.000 pfam_Telethonin pfam_Telethonin - no_errors TCAP HGNC ENSG00000173991 19 0 0 1824 299 14.0838 TCAP 0 genome.wustl.edu 37 17 37822029 37822029 + Missense_Mutation SNP C C G TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 17 37822029 37822029 C G SNP TCAP ENST00000309889 human ensembl 74_37 +1 known missense c.171 p.C57W 1.000 pfam_Telethonin pfam_Telethonin - no_errors TCAP HGNC ENSG00000173991 19 0 0 1840 268 12.7135 ACLY 0 genome.wustl.edu 37 17 40065790 40065790 + Nonsense_Mutation SNP A A T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 17 40065790 40065790 A T SNP ACLY ENST00000352035 human ensembl 74_37 -1 known nonsense c.509 p.L170* 0.997 pfam_ATP-grasp_succ-CoA_synth-type,pirsf_ATP-citrate_synthase pfam_Citrate_synthase-like,pfam_CoA_ligase,pfam_CoA-bd,pfam_ATP-grasp_succ-CoA_synth-type,superfamily_Citrate_synthase-like_core,superfamily_Succinyl-CoA_synth-like,smart_CoA-bd,pirsf_ATP-citrate_synthase - no_errors ACLY HGNC ENSG00000131473 185 0 0 86 95 52.4862 ACLY 0 genome.wustl.edu 37 17 40065791 40065791 + Silent SNP A A G TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 17 40065791 40065791 A G SNP ACLY ENST00000352035 human ensembl 74_37 -1 known silent c.508 p.L170 0.669 pfam_ATP-grasp_succ-CoA_synth-type,pirsf_ATP-citrate_synthase pfam_Citrate_synthase-like,pfam_CoA_ligase,pfam_CoA-bd,pfam_ATP-grasp_succ-CoA_synth-type,superfamily_Citrate_synthase-like_core,superfamily_Succinyl-CoA_synth-like,smart_CoA-bd,pirsf_ATP-citrate_synthase - no_errors ACLY HGNC ENSG00000131473 184 0 0 84 180 68.1818 ACLY 0 genome.wustl.edu 37 17 40070121 40070121 + Silent SNP C C A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 17 40070121 40070121 C A SNP ACLY ENST00000352035 human ensembl 74_37 -1 known silent c.6 p.S2 0.018 pirsf_ATP-citrate_synthase pfam_Citrate_synthase-like,pfam_CoA_ligase,pfam_CoA-bd,pfam_ATP-grasp_succ-CoA_synth-type,superfamily_Citrate_synthase-like_core,superfamily_Succinyl-CoA_synth-like,smart_CoA-bd,pirsf_ATP-citrate_synthase - no_errors ACLY HGNC ENSG00000131473 229 0 0 111 260 70.0809 ACLY 0 genome.wustl.edu 37 17 40070122 40070122 + Missense_Mutation SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 17 40070122 40070122 G A SNP ACLY ENST00000352035 human ensembl 74_37 -1 known missense c.5 p.S2L 1.000 pirsf_ATP-citrate_synthase pfam_Citrate_synthase-like,pfam_CoA_ligase,pfam_CoA-bd,pfam_ATP-grasp_succ-CoA_synth-type,superfamily_Citrate_synthase-like_core,superfamily_Succinyl-CoA_synth-like,smart_CoA-bd,pirsf_ATP-citrate_synthase - no_errors ACLY HGNC ENSG00000131473 225 0 0 108 114 51.3514 TTC25 0 genome.wustl.edu 37 17 40093094 40093094 + RNA SNP C C T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 17 40093094 40093094 C T SNP TTC25 ENST00000377540 human ensembl 74_37 +1 known rna NULL NULL 0.994 - - - no_errors TTC25 HGNC ENSG00000204815 202 1 0.492611 109 31 22.1429 ALOX15 0 genome.wustl.edu 37 17 4540419 4540419 + Missense_Mutation SNP C C T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 17 4540419 4540419 C T SNP ALOX15 ENST00000545513 human ensembl 74_37 -1 known missense c.1008 p.M336I 1.000 pfam_LipOase_C,superfamily_LipOase_C pfam_LipOase_C,pfam_PLAT/LH2_dom,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,prints_LipOase_mml,prints_LipOase_C - no_errors ALOX15 HGNC ENSG00000161905 181 0 0 39 24 38.0952 ABCA8 0 genome.wustl.edu 37 17 66873741 66873741 + Missense_Mutation SNP T T G TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 17 66873741 66873741 T G SNP ABCA8 ENST00000430352 human ensembl 74_37 -1 known missense c.4118 p.N1373T 0.985 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA8 HGNC ENSG00000141338 277 0 0 143 38 20.9945 ABCA5 0 genome.wustl.edu 37 17 67257396 67257396 + Missense_Mutation SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 17 67257396 67257396 G A SNP ABCA5 ENST00000392677 human ensembl 74_37 -1 known missense c.3437 p.A1146V 0.994 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA5 HGNC ENSG00000154265 75 0 0 17 8 32 TP53 0 genome.wustl.edu 37 17 7578524 7578524 + Missense_Mutation SNP G G C TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 17 7578524 7578524 G C SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.406 p.Q136E 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 74 0 0 11 23 67.6471 ASXL3 0 genome.wustl.edu 37 18 31323566 31323566 + Missense_Mutation SNP C C A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 18 31323566 31323566 C A SNP ASXL3 ENST00000269197 human ensembl 74_37 +1 known missense c.3754 p.H1252N 1.000 NULL superfamily_Znf_FYVE_PHD - no_errors ASXL3 HGNC ENSG00000141431 113 0 0 21 10 32.2581 DCC 0 genome.wustl.edu 37 18 50976898 50976898 + Silent SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 18 50976898 50976898 G A SNP DCC ENST00000442544 human ensembl 74_37 +1 known silent c.3258 p.P1086 0.050 pfam_Neogenin_C 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 112 0 0 27 7 20.5882 NETO1 0 genome.wustl.edu 37 18 70451126 70451126 + Silent SNP A A G TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 18 70451126 70451126 A G SNP NETO1 ENST00000327305 human ensembl 74_37 -1 known silent c.655 p.L219 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt - no_errors NETO1 HGNC ENSG00000166342 237 0 0 73 14 16.092 ZNF236 0 genome.wustl.edu 37 18 74607115 74607115 + Missense_Mutation SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 18 74607115 74607115 G A SNP ZNF236 ENST00000253159 human ensembl 74_37 +1 known missense c.1558 p.A520T 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF236 HGNC ENSG00000130856 171 0 0 76 53 41.0853 RALBP1 0 genome.wustl.edu 37 18 9513171 9513171 + Missense_Mutation SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 18 9513171 9513171 G A SNP RALBP1 ENST00000019317 human ensembl 74_37 +1 known missense c.128 p.R43H 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors RALBP1 HGNC ENSG00000017797 106 0 0 33 6 15.3846 RALBP1 0 genome.wustl.edu 37 18 9517284 9517284 + Missense_Mutation SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 18 9517284 9517284 G A SNP RALBP1 ENST00000019317 human ensembl 74_37 +1 known missense c.686 p.G229D 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors RALBP1 HGNC ENSG00000017797 81 0 0 19 8 29.6296 COL5A3 0 genome.wustl.edu 37 19 10081312 10081312 + Missense_Mutation SNP G G T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 19 10081312 10081312 G T SNP COL5A3 ENST00000264828 human ensembl 74_37 -1 known missense c.3922 p.P1308T 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL5A3 HGNC ENSG00000080573 10 0 0 5 6 54.5455 ZSWIM4 0 genome.wustl.edu 37 19 13919781 13919781 + Missense_Mutation SNP C C T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 19 13919781 13919781 C T SNP ZSWIM4 ENST00000254323 human ensembl 74_37 +1 known missense c.844 p.R282C 1.000 NULL pfscan_Znf_SWIM - no_errors ZSWIM4 HGNC ENSG00000132003 23 0 0 17 6 26.087 ONECUT3 0 genome.wustl.edu 37 19 1754826 1754826 + Missense_Mutation SNP C C A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 19 1754826 1754826 C A SNP ONECUT3 ENST00000382349 human ensembl 74_37 +1 known missense c.1165 p.Q389K 1.000 pfam_Hmoeo_CUT,superfamily_Lambda_DNA-bd_dom,pfscan_Hmoeo_CUT pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT - no_errors ONECUT3 HGNC ENSG00000205922 20 0 0 6 5 45.4545 UPF1 0 genome.wustl.edu 37 19 18965495 18965495 + Silent SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 19 18965495 18965495 G A SNP UPF1 ENST00000599848 human ensembl 74_37 +1 known silent c.1275 p.V425 1.000 NULL pfam_RNA-helicase_UPF1_UPF2-interct,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase - no_errors UPF1 HGNC ENSG00000005007 273 0 0 116 27 18.8811 NCAN 0 genome.wustl.edu 37 19 19359609 19359609 + Missense_Mutation SNP A A T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 19 19359609 19359609 A T SNP NCAN ENST00000252575 human ensembl 74_37 +1 known missense c.3738 p.E1246D 0.665 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Link,pfam_C-type_lectin,pfam_Sushi_SCR_CCP,pfam_Ig_V-set,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Link,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link,prints_AntifreezeII - no_errors NCAN HGNC ENSG00000130287 101 0 0 49 9 15.5172 SUGP1 0 genome.wustl.edu 37 19 19391068 19391068 + Missense_Mutation SNP C C T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 19 19391068 19391068 C T SNP SUGP1 ENST00000247001 human ensembl 74_37 -1 known missense c.1276 p.G426R 1.000 NULL pfam_Surp,pfam_G_patch_dom,superfamily_Surp,smart_Surp,smart_G_patch_dom,pfscan_Surp,pfscan_G_patch_dom - no_errors SUGP1 HGNC ENSG00000105705 165 0 0 74 9 10.8434 ZNF730 0 genome.wustl.edu 37 19 23328967 23328967 + Missense_Mutation SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 19 23328967 23328967 G A SNP ZNF730 ENST00000597761 human ensembl 74_37 +1 known missense c.1121 p.G374D 0.981 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 ZNF730 HGNC ENSG00000183850 40 0 0 21 6 22.2222 TSHZ3 0 genome.wustl.edu 37 19 31769898 31769898 + Silent SNP C C T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 19 31769898 31769898 C T SNP TSHZ3 ENST00000240587 human ensembl 74_37 -1 known silent c.801 p.G267 0.747 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors TSHZ3 HGNC ENSG00000121297 322 0 0 116 32 21.6216 SERTAD1 0 genome.wustl.edu 37 19 40929446 40929446 + Missense_Mutation SNP C C T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 19 40929446 40929446 C T SNP SERTAD1 ENST00000357949 human ensembl 74_37 -1 known missense c.8 p.S3N 1.000 NULL pfam_SERTA,pfscan_SERTA - no_errors SERTAD1 HGNC ENSG00000197019 101 0 0 38 15 28.3019 PNMAL2 0 genome.wustl.edu 37 19 46997623 46997623 + Missense_Mutation SNP T T C TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 19 46997623 46997623 T C SNP PNMAL2 ENST00000599531 human ensembl 74_37 -1 known missense c.1100 p.D367G 0.001 NULL NULL - no_errors PNMAL2 HGNC ENSG00000204851 128 0 0 51 17 25 SYT3 0 genome.wustl.edu 37 19 51128454 51128454 + Missense_Mutation SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 19 51128454 51128454 G A SNP SYT3 ENST00000338916 human ensembl 74_37 -1 known missense c.1672 p.R558C 0.997 superfamily_C2_dom,smart_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,prints_Synaptotagmin,prints_C2_dom,pfscan_C2_dom - no_errors SYT3 HGNC ENSG00000213023 21 0 0 10 4 28.5714 SHANK1 0 genome.wustl.edu 37 19 51192573 51192573 + Missense_Mutation SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 19 51192573 51192573 G A SNP SHANK1 ENST00000391813 human ensembl 74_37 -1 known missense c.89 p.P30L 0.000 NULL pfam_SAM_type1,pfam_SAM_2,pfam_PDZ,superfamily_PDZ,superfamily_SAM/pointed,smart_PDZ,smart_SAM,pfscan_PDZ,pfscan_SAM - no_errors SHANK1 HGNC ENSG00000161681 63 0 0 28 6 17.6471 ZNF765 0 genome.wustl.edu 37 19 53912160 53912160 + Missense_Mutation SNP C C T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 19 53912160 53912160 C T SNP ZNF765 ENST00000396408 human ensembl 74_37 +1 known missense c.1352 p.S451L 0.041 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 ZNF765 HGNC ENSG00000196417 174 0 0 49 15 23.4375 LAIR1 0 genome.wustl.edu 37 19 54875910 54875910 + Missense_Mutation SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 19 54875910 54875910 G A SNP LAIR1 ENST00000391742 human ensembl 74_37 -1 known missense c.62 p.T21M 0.001 NULL smart_Ig_sub - no_errors LAIR1 HGNC ENSG00000167613 95 0 0 28 20 41.6667 KIR3DX1 0 genome.wustl.edu 37 19 55045223 55045223 + Missense_Mutation SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 19 55045223 55045223 G A SNP KIR3DX1 ENST00000335056 human ensembl 74_37 +1 known missense c.343 p.V115I 0.003 smart_Ig_sub pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like_dom - no_errors KIR3DX1 HGNC ENSG00000104970 79 0 0 32 7 17.9487 NLRP7 0 genome.wustl.edu 37 19 55446019 55446019 + Missense_Mutation SNP C C T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 19 55446019 55446019 C T SNP NLRP7 ENST00000446217 human ensembl 74_37 -1 known missense c.2393 p.G798D 0.000 NULL pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP7 HGNC ENSG00000167634 41 0 0 24 10 29.4118 CD70 0 genome.wustl.edu 37 19 6586225 6586225 + Missense_Mutation SNP C C T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 19 6586225 6586225 C T SNP CD70 ENST00000245903 human ensembl 74_37 -1 known missense c.388 p.V130M 0.182 pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pfscan_TNF_dom pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pfscan_TNF_dom - no_errors CD70 HGNC ENSG00000125726 90 0 0 46 15 24.5902 MUC16 0 genome.wustl.edu 37 19 9087510 9087510 + Silent SNP A A C TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 19 9087510 9087510 A C SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known silent c.4305 p.T1435 0.001 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 184 0 0 80 21 20.7921 SLC5A7 0 genome.wustl.edu 37 2 108618467 108618467 + Missense_Mutation SNP T T C TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 2 108618467 108618467 T C SNP SLC5A7 ENST00000264047 human ensembl 74_37 +1 known missense c.712 p.Y238H 1.000 pfam_Na/solute_symporter,pfscan_Na/solute_symporter pfam_Na/solute_symporter,pfscan_Na/solute_symporter - no_errors SLC5A7 HGNC ENSG00000115665 103 0 0 35 9 20.4545 CNTNAP5 0 genome.wustl.edu 37 2 125281973 125281973 + Missense_Mutation SNP C C A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 2 125281973 125281973 C A SNP CNTNAP5 ENST00000431078 human ensembl 74_37 +1 known missense c.1418 p.P473Q 0.423 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP5 HGNC ENSG00000155052 78 0 0 50 3 5.66038 CNTNAP5 0 genome.wustl.edu 37 2 125530594 125530594 + Missense_Mutation SNP G G T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 2 125530594 125530594 G T SNP CNTNAP5 ENST00000431078 human ensembl 74_37 +1 known missense c.2749 p.G917W 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP5 HGNC ENSG00000155052 182 0 0 79 9 10.2273 THSD7B 0 genome.wustl.edu 37 2 137814207 137814207 + Silent SNP C C T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 2 137814207 137814207 C T SNP THSD7B ENST00000272643 human ensembl 74_37 +1 known silent c.357 p.Y119 0.000 superfamily_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7B HGNC ENSG00000144229 55 0 0 51 8 13.5593 LRP1B 0 genome.wustl.edu 37 2 141004684 141004684 + Missense_Mutation SNP T T C TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 2 141004684 141004684 T C SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.13295 p.K4432R 1.000 NULL pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 74 0 0 19 5 20.8333 SCN3A 0 genome.wustl.edu 37 2 166021016 166021016 + Missense_Mutation SNP C C A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 2 166021016 166021016 C A SNP SCN3A ENST00000283254 human ensembl 74_37 -1 known missense c.488 p.G163V 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN3A HGNC ENSG00000153253 78 0 0 19 4 17.3913 SCN2A 0 genome.wustl.edu 37 2 166229777 166229777 + Nonsense_Mutation SNP G G T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 2 166229777 166229777 G T SNP SCN2A ENST00000283256 human ensembl 74_37 +1 known nonsense c.3892 p.E1298* 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN2A HGNC ENSG00000136531 203 0 0 70 29 29.2929 XIRP2 0 genome.wustl.edu 37 2 168101416 168101416 + Missense_Mutation SNP G G C TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 2 168101416 168101416 G C SNP XIRP2 ENST00000295237 human ensembl 74_37 +1 known missense c.3514 p.E1172Q 1.000 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP2 HGNC ENSG00000163092 126 0 0 40 10 20 DLX2 0 genome.wustl.edu 37 2 172965545 172965545 + Missense_Mutation SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 2 172965545 172965545 G A SNP DLX2 ENST00000234198 human ensembl 74_37 -1 known missense c.713 p.P238L 1.000 NULL pfam_Homeobox_dom,pfam_Distal-less_N,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa - no_errors DLX2 HGNC ENSG00000115844 23 0 0 20 3 13.0435 HOXD12 0 genome.wustl.edu 37 2 176965305 176965305 + Missense_Mutation SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 2 176965305 176965305 G A SNP HOXD12 ENST00000404162 human ensembl 74_37 +1 novel missense c.658 p.E220K 0.281 NULL NULL - no_errors HOXD12 HGNC ENSG00000170178 35 0 0 21 4 16 TTN 0 genome.wustl.edu 37 2 179445168 179445168 + Missense_Mutation SNP G G C TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 2 179445168 179445168 G C SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.59234 p.T19745S 1.000 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2 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 131 0 0 51 7 12.069 TTN 0 genome.wustl.edu 37 2 179499302 179499302 + Missense_Mutation SNP C C T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 2 179499302 179499302 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.34502 p.R11501Q 1.000 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2 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 220 0 0 100 18 15.2542 TTN 0 genome.wustl.edu 37 2 179616598 179616598 + Missense_Mutation SNP A A C TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 2 179616598 179616598 A C SNP TTN ENST00000360870 human ensembl 74_37 -1 known missense c.10529 p.L3510R 1.000 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 194 0 0 77 18 18.9474 TNS1 0 genome.wustl.edu 37 2 218712303 218712303 + Silent SNP A A C TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 2 218712303 218712303 A C SNP TNS1 ENST00000171887 human ensembl 74_37 -1 known silent c.2562 p.T854 0.033 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_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TNS1 HGNC ENSG00000079308 175 0 0 105 21 16.6667 PLCD4 0 genome.wustl.edu 37 2 219501217 219501217 + Missense_Mutation SNP T T G TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 2 219501217 219501217 T G SNP PLCD4 ENST00000417849 human ensembl 74_37 +1 known missense c.2206 p.S736A 1.000 superfamily_C2_dom pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_EF_hand_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_EF_hand_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCD4 HGNC ENSG00000115556 129 0 0 93 17 15.4545 CCDC108 0 genome.wustl.edu 37 2 219892515 219892515 + Nonsense_Mutation SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 2 219892515 219892515 G A SNP CCDC108 ENST00000341552 human ensembl 74_37 -1 known nonsense c.2068 p.R690* 0.000 NULL superfamily_PapD-like,pfscan_MSP_dom - no_errors CCDC108 HGNC ENSG00000181378 99 0 0 52 34 39.5349 TUBA4B 0 genome.wustl.edu 37 2 220136170 220136170 + RNA SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 2 220136170 220136170 G A SNP TUBA4B ENST00000490341 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors TUBA4B HGNC ENSG00000243910 187 1 0.531915 71 38 34.8624 OBSL1 0 genome.wustl.edu 37 2 220431630 220431630 + Missense_Mutation SNP C C T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 2 220431630 220431630 C T SNP OBSL1 ENST00000404537 human ensembl 74_37 -1 known missense c.2056 p.V686I 0.003 smart_Ig_sub pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors OBSL1 HGNC ENSG00000124006 74 0 0 31 6 16.2162 SPHKAP 0 genome.wustl.edu 37 2 228846563 228846563 + Missense_Mutation SNP A A G TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 2 228846563 228846563 A G SNP SPHKAP ENST00000392056 human ensembl 74_37 -1 known missense c.4973 p.V1658A 1.000 pfam_AKAP_110_C pfam_AKAP_110_C - no_errors SPHKAP HGNC ENSG00000153820 86 0 0 33 13 28.2609 CHRNG 0 genome.wustl.edu 37 2 233407734 233407734 + Silent SNP C C T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 2 233407734 233407734 C T SNP CHRNG ENST00000389494 human ensembl 74_37 +1 known silent c.747 p.I249 0.217 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel - no_errors CHRNG HGNC ENSG00000196811 293 0 0 126 23 15.4362 DNAJB3 0 genome.wustl.edu 37 2 234652296 234652296 + RNA SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 2 234652296 234652296 G A SNP DNAJB3 ENST00000449667 human ensembl 74_37 -1 known rna NULL NULL 0.005 - - - no_errors DNAJB3 HGNC ENSG00000227802 261 1 0.381679 133 31 18.9024 HJURP 0 genome.wustl.edu 37 2 234750289 234750289 + Silent SNP C C T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 2 234750289 234750289 C T SNP HJURP ENST00000411486 human ensembl 74_37 -1 known silent c.1137 p.V379 0.002 pfam_HJURP pfam_HJURP,pfam_HJURP_C,pfam_Centromere_Scm3_N - no_errors HJURP HGNC ENSG00000123485 107 0 0 47 11 18.9655 NDUFA10 0 genome.wustl.edu 37 2 240921557 240921557 + Nonsense_Mutation SNP C C T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 2 240921557 240921557 C T SNP NDUFA10 ENST00000404554 human ensembl 74_37 -1 novel nonsense c.1079 p.W360* 0.001 pirsf_NADH_UbQ_OxRdtase_42KD_su pfam_Deoxynucleoside_kinase,superfamily_P-loop_NTPase,pirsf_NADH_UbQ_OxRdtase_42KD_su - no_errors NDUFA10 HGNC ENSG00000130414 158 0 0 78 20 20.4082 C2orf71 0 genome.wustl.edu 37 2 29296154 29296154 + Missense_Mutation SNP A A T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 2 29296154 29296154 A T SNP C2orf71 ENST00000331664 human ensembl 74_37 -1 known missense c.974 p.L325Q 0.982 NULL NULL - no_errors C2orf71 HGNC ENSG00000179270 210 0 0 89 26 22.6087 SIX2 0 genome.wustl.edu 37 2 45235916 45235916 + Missense_Mutation SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 2 45235916 45235916 G A SNP SIX2 ENST00000303077 human ensembl 74_37 -1 known missense c.334 p.R112C 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors SIX2 HGNC ENSG00000170577 104 0 0 70 14 16.6667 TSPYL6 0 genome.wustl.edu 37 2 54483006 54483006 + Missense_Mutation SNP C C T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 2 54483006 54483006 C T SNP TSPYL6 ENST00000317802 human ensembl 74_37 -1 known missense c.283 p.A95T 0.002 NULL pfam_NAP_family - no_errors TSPYL6 HGNC ENSG00000178021 79 0 0 48 6 11.1111 EVA1A 0 genome.wustl.edu 37 2 75720569 75720569 + Silent SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 2 75720569 75720569 G A SNP EVA1A ENST00000233712 human ensembl 74_37 -1 known silent c.252 p.S84 0.998 NULL NULL - no_errors EVA1A HGNC ENSG00000115363 105 0 0 48 16 25 ATOH8 0 genome.wustl.edu 37 2 85981598 85981598 + Missense_Mutation SNP C C A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 2 85981598 85981598 C A SNP ATOH8 ENST00000306279 human ensembl 74_37 +1 known missense c.286 p.R96S 0.854 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors ATOH8 HGNC ENSG00000168874 13 0 0 18 4 18.1818 ASXL1 0 genome.wustl.edu 37 20 31023525 31023525 + Missense_Mutation SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 20 31023525 31023525 G A SNP ASXL1 ENST00000375687 human ensembl 74_37 +1 known missense c.3010 p.D1004N 1.000 NULL NULL - no_errors ASXL1 HGNC ENSG00000171456 98 0 0 87 30 25.641 FASTKD5 0 genome.wustl.edu 37 20 3127667 3127667 + Silent SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 20 3127667 3127667 G A SNP FASTKD5 ENST00000380266 human ensembl 74_37 -1 known silent c.2050 p.L684 0.000 NULL pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP - no_errors FASTKD5 HGNC ENSG00000215251 167 0 0 99 20 16.8067 C20orf194 0 genome.wustl.edu 37 20 3236670 3236670 + Silent SNP C C A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 20 3236670 3236670 C A SNP C20orf194 ENST00000252032 human ensembl 74_37 -1 known silent c.3243 p.L1081 0.976 NULL NULL - no_errors C20orf194 HGNC ENSG00000088854 98 0 0 67 10 12.987 MMP24 0 genome.wustl.edu 37 20 33862271 33862271 + Silent SNP C C T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 20 33862271 33862271 C T SNP MMP24 ENST00000246186 human ensembl 74_37 +1 known silent c.1797 p.S599 0.961 pfam_Pept_M10A_metallopeptidase_C pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A - no_errors MMP24 HGNC ENSG00000125966 234 0 0 140 18 11.3924 FAM83D 0 genome.wustl.edu 37 20 37581072 37581072 + Missense_Mutation SNP C C T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 20 37581072 37581072 C T SNP FAM83D ENST00000217429 human ensembl 74_37 +1 known missense c.1757 p.T586I 0.570 NULL pfam_DUF1669 - no_errors FAM83D HGNC ENSG00000101447 180 0 0 79 18 18.5567 CDC25B 0 genome.wustl.edu 37 20 3783546 3783546 + RNA SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 20 3783546 3783546 G A SNP CDC25B ENST00000495915 human ensembl 74_37 +1 known rna NULL NULL 0.869 - - - no_errors CDC25B HGNC ENSG00000101224 56 0 0 34 6 15 SALL4 0 genome.wustl.edu 37 20 50407967 50407967 + Missense_Mutation SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 20 50407967 50407967 G A SNP SALL4 ENST00000217086 human ensembl 74_37 -1 known missense c.1055 p.A352V 0.182 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL4 HGNC ENSG00000101115 84 0 0 53 12 18.4615 MC3R 0 genome.wustl.edu 37 20 54824543 54824543 + Missense_Mutation SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 20 54824543 54824543 G A SNP MC3R ENST00000243911 human ensembl 74_37 +1 known missense c.644 p.R215Q 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Melancort_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Melcrt_ACTH_rcpt,prints_Mcort_3_rcpt,prints_GPCR_Rhodpsn,prints_Melancort_rcpt - no_errors MC3R HGNC ENSG00000124089 120 0 0 90 9 9.09091 ZNF831 0 genome.wustl.edu 37 20 57766724 57766724 + Missense_Mutation SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 20 57766724 57766724 G A SNP ZNF831 ENST00000371030 human ensembl 74_37 +1 novel missense c.650 p.G217E 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF831 HGNC ENSG00000124203 116 0 0 102 15 12.8205 BIRC7 0 genome.wustl.edu 37 20 61869339 61869339 + Missense_Mutation SNP C C A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 20 61869339 61869339 C A SNP BIRC7 ENST00000217169 human ensembl 74_37 +1 known missense c.434 p.A145D 1.000 pfam_BIR,smart_BIR,pfscan_BIR pfam_BIR,smart_BIR,smart_Znf_RING,pfscan_BIR,pfscan_Znf_RING - no_errors BIRC7 HGNC ENSG00000101197 63 0 0 34 5 12.8205 ARFGAP1 0 genome.wustl.edu 37 20 61919114 61919114 + Silent SNP C C T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 20 61919114 61919114 C T SNP ARFGAP1 ENST00000353546 human ensembl 74_37 +1 known silent c.1134 p.A378 0.914 NULL pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP - no_errors ARFGAP1 HGNC ENSG00000101199 23 0 0 19 7 26.9231 MCM3AP 0 genome.wustl.edu 37 21 47685984 47685984 + Silent SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 21 47685984 47685984 G A SNP MCM3AP ENST00000291688 human ensembl 74_37 -1 known silent c.2886 p.V962 0.991 NULL pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25 - no_errors MCM3AP HGNC ENSG00000160294 403 0 0 126 66 34.375 SCARF2 0 genome.wustl.edu 37 22 20785156 20785156 + Silent SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 22 20785156 20785156 G A SNP SCARF2 ENST00000405555 human ensembl 74_37 -1 known silent c.894 p.A298 0.977 superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom pfam_EGF_laminin,superfamily_Growth_fac_rcpt_N_dom,smart_EGF_laminin,smart_EG-like_dom,pfscan_EG-like_dom - no_errors SCARF2 HGNC ENSG00000244486 20 0 0 9 4 30.7692 MYH9 0 genome.wustl.edu 37 22 36684873 36684873 + Missense_Mutation SNP C C T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 22 36684873 36684873 C T SNP MYH9 ENST00000216181 human ensembl 74_37 -1 known missense c.4670 p.R1557Q 1.000 pfam_Myosin_tail,superfamily_Prefoldin pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH9 HGNC ENSG00000100345 217 0 0 94 31 24.8 CYTH4 0 genome.wustl.edu 37 22 37695268 37695268 + Missense_Mutation SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 22 37695268 37695268 G A SNP CYTH4 ENST00000248901 human ensembl 74_37 +1 known missense c.355 p.D119N 1.000 pfam_Sec7_dom,superfamily_Sec7_dom,smart_Sec7_dom,pfscan_Sec7_dom pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom - no_errors CYTH4 HGNC ENSG00000100055 64 0 0 25 6 19.3548 CBX7 0 genome.wustl.edu 37 22 39516371 39516371 + RNA SNP G G T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 22 39516371 39516371 G T SNP CBX7 ENST00000475962 human ensembl 74_37 -1 known rna NULL NULL 0.999 - - - no_errors CBX7 HGNC ENSG00000100307 40 0 0 6 4 40 SAMM50 0 genome.wustl.edu 37 22 44392122 44392122 + RNA SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 22 44392122 44392122 G A SNP SAMM50 ENST00000493621 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SAMM50 HGNC ENSG00000100347 451 0 0 159 39 19.697 ATXN10 0 genome.wustl.edu 37 22 46125340 46125340 + Missense_Mutation SNP C C T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 22 46125340 46125340 C T SNP ATXN10 ENST00000252934 human ensembl 74_37 +1 known missense c.764 p.T255M 0.000 superfamily_ARM-type_fold pfam_Ataxin-10_domain,superfamily_ARM-type_fold - no_errors ATXN10 HGNC ENSG00000130638 171 0 0 58 18 23.6842 MORC1 0 genome.wustl.edu 37 3 108746704 108746704 + Missense_Mutation SNP G G T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 3 108746704 108746704 G T SNP MORC1 ENST00000232603 human ensembl 74_37 -1 known missense c.1598 p.P533Q 0.898 NULL pfam_Znf_CW,superfamily_HATPase_ATP-bd,pfscan_Znf_CW - no_errors MORC1 HGNC ENSG00000114487 90 0 0 39 7 15.2174 LOC101929734 0 genome.wustl.edu 37 3 113955043 113955043 + RNA SNP C C G TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 3 113955043 113955043 C G SNP LOC101929734 ENST00000493033 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors RP11-553L6.2 Clone_based_vega_gene ENSG00000241490 53 0 0 29 4 12.1212 C3orf30 0 genome.wustl.edu 37 3 118865449 118865449 + Missense_Mutation SNP C C T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 3 118865449 118865449 C T SNP C3orf30 ENST00000295622 human ensembl 74_37 +1 known missense c.413 p.T138M 0.000 NULL superfamily_cAMP_dep_PK_reg_su_I/II_a/b - no_errors C3orf30 HGNC ENSG00000163424 95 0 0 44 10 18.5185 ASTE1 0 genome.wustl.edu 37 3 130733117 130733117 + Silent SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 3 130733117 130733117 G A SNP ASTE1 ENST00000264992 human ensembl 74_37 -1 known silent c.1824 p.F608 0.010 NULL pfam_XPG_DNA_repair_N - no_errors ASTE1 HGNC ENSG00000034533 106 0 0 45 22 32.8358 EPHB1 0 genome.wustl.edu 37 3 134670497 134670497 + Missense_Mutation SNP A A C TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 3 134670497 134670497 A C SNP EPHB1 ENST00000398015 human ensembl 74_37 +1 known missense c.408 p.K136N 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHB1 HGNC ENSG00000154928 251 0 0 124 24 16.2162 EPHB1 0 genome.wustl.edu 37 3 134851755 134851755 + Silent SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 3 134851755 134851755 G A SNP EPHB1 ENST00000398015 human ensembl 74_37 +1 known silent c.1161 p.T387 0.001 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHB1 HGNC ENSG00000154928 76 0 0 29 33 53.2258 EPHB1 0 genome.wustl.edu 37 3 134884908 134884908 + Missense_Mutation SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 3 134884908 134884908 G A SNP EPHB1 ENST00000398015 human ensembl 74_37 +1 known missense c.1684 p.V562I 1.000 pirsf_Tyr_kinase_ephrin_rcpt pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHB1 HGNC ENSG00000154928 157 0 0 82 11 11.828 ZBTB38 0 genome.wustl.edu 37 3 141162920 141162920 + Missense_Mutation SNP A A G TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 3 141162920 141162920 A G SNP ZBTB38 ENST00000321464 human ensembl 74_37 +1 known missense c.1693 p.K565E 1.000 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB38 HGNC ENSG00000177311 103 0 0 53 16 23.1884 ZIC1 0 genome.wustl.edu 37 3 147128475 147128475 + Silent SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 3 147128475 147128475 G A SNP ZIC1 ENST00000282928 human ensembl 74_37 +1 known silent c.576 p.P192 0.997 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZIC1 HGNC ENSG00000152977 97 0 0 86 14 14 KRT8P12 0 genome.wustl.edu 37 3 160285778 160285778 + RNA SNP C C A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 3 160285778 160285778 C A SNP KRT8P12 ENST00000468527 human ensembl 74_37 +1 putative rna NULL NULL 0.017 - - - no_errors KRT8P12 HGNC ENSG00000229320 20 0 0 29 3 9.375 OXNAD1 0 genome.wustl.edu 37 3 16344253 16344253 + Missense_Mutation SNP C C T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 3 16344253 16344253 C T SNP OXNAD1 ENST00000544043 human ensembl 74_37 +1 known missense c.836 p.T279M 0.991 pfam_OxRdtase_FAD/NAD-bd,pfam_Fe_red_NAD-bd_6 pfam_OxRdtase_FAD/NAD-bd,pfam_Fe_red_NAD-bd_6,superfamily_Riboflavin_synthase-like_b-brl,prints_Phe_hydroxylase,prints_NADH-Cyt_B5_reductase - no_errors OXNAD1 HGNC ENSG00000154814 44 0 0 10 3 23.0769 MUC20 0 genome.wustl.edu 37 3 195447871 195447871 + RNA SNP C C T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 3 195447871 195447871 C T SNP MUC20 ENST00000480350 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors MUC20 HGNC ENSG00000176945 12 0 0 18 4 18.1818 TNK2 0 genome.wustl.edu 37 3 195595338 195595338 + Missense_Mutation SNP C C T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 3 195595338 195595338 C T SNP TNK2 ENST00000381916 human ensembl 74_37 -1 known missense c.2020 p.A674T 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Cdc42_binding_dom_like,pfam_Inhibitor_Mig-6,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_SAM/pointed,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SH3_domain,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_SH3_domain,pfscan_Prot_kinase_dom - no_errors TNK2 HGNC ENSG00000061938 11 0 0 14 4 22.2222 ARPP21 0 genome.wustl.edu 37 3 35750490 35750490 + Missense_Mutation SNP C C A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 3 35750490 35750490 C A SNP ARPP21 ENST00000187397 human ensembl 74_37 +1 known missense c.825 p.D275E 1.000 NULL pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd - no_errors ARPP21 HGNC ENSG00000172995 93 0 0 24 5 17.2414 STAC 0 genome.wustl.edu 37 3 36524582 36524582 + Missense_Mutation SNP C C A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 3 36524582 36524582 C A SNP STAC ENST00000273183 human ensembl 74_37 +1 known missense c.487 p.L163M 1.000 NULL pfam_SH3_domain,pfam_SH3_2,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_SH3_domain,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_Spectrin_alpha_SH3,prints_SH3_domain - no_errors STAC HGNC ENSG00000144681 77 0 0 28 5 15.1515 CSPG5 0 genome.wustl.edu 37 3 47610710 47610710 + Missense_Mutation SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 3 47610710 47610710 G A SNP CSPG5 ENST00000383738 human ensembl 74_37 -1 known missense c.1390 p.R464W 1.000 pfam_Neural_ProG_Cyt pfam_Chon_Sulph_att,pfam_Neural_ProG_Cyt - no_errors CSPG5 HGNC ENSG00000114646 56 0 0 6 7 53.8462 IQCF2 0 genome.wustl.edu 37 3 51897243 51897243 + Nonsense_Mutation SNP C C T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 3 51897243 51897243 C T SNP IQCF2 ENST00000333127 human ensembl 74_37 +1 known nonsense c.352 p.R118* 0.996 superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors IQCF2 HGNC ENSG00000184345 152 0 0 78 24 23.5294 SNTN 0 genome.wustl.edu 37 3 63638415 63638415 + Missense_Mutation SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 3 63638415 63638415 G A SNP SNTN ENST00000343837 human ensembl 74_37 +1 known missense c.52 p.D18N 0.005 NULL NULL - no_errors SNTN HGNC ENSG00000188817 65 0 0 15 7 31.8182 BRPF1 0 genome.wustl.edu 37 3 9780998 9780998 + Silent SNP C C T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 3 9780998 9780998 C T SNP BRPF1 ENST00000383829 human ensembl 74_37 +1 known silent c.915 p.Y305 0.987 superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP_dom,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP_dom,pfscan_PWWP_dom,pfscan_Znf_PHD-finger,pfscan_Znf_C2H2,pfscan_Bromodomain,prints_Bromodomain - no_errors BRPF1 HGNC ENSG00000156983 107 0 0 36 18 33.3333 FAM193A 0 genome.wustl.edu 37 4 2701991 2701991 + Silent SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 4 2701991 2701991 G A SNP FAM193A ENST00000324666 human ensembl 74_37 +1 known silent c.3219 p.Q1073 0.099 NULL NULL - no_errors FAM193A HGNC ENSG00000125386 84 0 0 34 7 17.0732 UGT2B15 0 genome.wustl.edu 37 4 69519913 69519913 + Silent SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 4 69519913 69519913 G A SNP UGT2B15 ENST00000338206 human ensembl 74_37 -1 known silent c.1155 p.I385 1.000 pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2B15 HGNC ENSG00000196620 347 0 0 142 29 16.9591 GRID2 0 genome.wustl.edu 37 4 93225895 93225895 + Missense_Mutation SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 4 93225895 93225895 G A SNP GRID2 ENST00000282020 human ensembl 74_37 +1 known missense c.88 p.G30R 1.000 superfamily_Peripla_BP_I pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRID2 HGNC ENSG00000152208 135 0 0 23 8 25.8065 SLC26A1 0 genome.wustl.edu 37 4 984120 984120 + Missense_Mutation SNP C C T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 4 984120 984120 C T SNP SLC26A1 ENST00000361661 human ensembl 74_37 -1 known missense c.607 p.V203M 0.988 pfam_Sulph_transpt,tigrfam_SulP_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A1 HGNC ENSG00000145217 26 0 0 13 3 18.75 FER 0 genome.wustl.edu 37 5 108436218 108436218 + Missense_Mutation SNP C C G TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 5 108436218 108436218 C G SNP FER ENST00000281092 human ensembl 74_37 +1 known missense c.2046 p.H682Q 1.000 pirsf_Tyr_kinase_non-rcpt_Fes_subgr,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_non-rcpt_Fes_subgr,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_FCH_dom,superfamily_Kinase-like_dom,smart_FCH_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,pfscan_FCH_dom,pfscan_SH2,pfscan_Prot_kinase_dom - no_errors FER HGNC ENSG00000151422 71 0 0 12 8 40 CTNND2 0 genome.wustl.edu 37 5 11022914 11022914 + Missense_Mutation SNP T T G TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 5 11022914 11022914 T G SNP CTNND2 ENST00000304623 human ensembl 74_37 -1 known missense c.2966 p.K989T 1.000 superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors CTNND2 HGNC ENSG00000169862 109 0 0 27 14 34.1463 KDM3B 0 genome.wustl.edu 37 5 137727090 137727090 + Missense_Mutation SNP A A C TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 5 137727090 137727090 A C SNP KDM3B ENST00000314358 human ensembl 74_37 +1 known missense c.1769 p.D590A 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM3B HGNC ENSG00000120733 111 0 0 19 18 48.6486 TRIO 0 genome.wustl.edu 37 5 14492826 14492826 + Missense_Mutation SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 5 14492826 14492826 G A SNP TRIO ENST00000344204 human ensembl 74_37 +1 known missense c.7783 p.A2595T 1.000 superfamily_SH3_domain,smart_SH3_domain pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,superfamily_Capsid/spike_ssDNA_virus,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors TRIO HGNC ENSG00000038382 61 0 0 30 8 21.0526 ANXA6 0 genome.wustl.edu 37 5 150527445 150527445 + Missense_Mutation SNP C C A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 5 150527445 150527445 C A SNP ANXA6 ENST00000354546 human ensembl 74_37 -1 known missense c.18 p.Q6H 1.000 prints_AnnexinVI pfam_Annexin_repeat,smart_Annexin_repeat,prints_Annexin,prints_AnnexinVI,prints_AnnexinIV - no_errors ANXA6 HGNC ENSG00000197043 32 0 0 8 3 27.2727 PDZD2 0 genome.wustl.edu 37 5 31799291 31799291 + RNA SNP G G T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 5 31799291 31799291 G T SNP PDZD2 ENST00000502824 human ensembl 74_37 +1 known rna NULL NULL 0.135 - - - no_errors PDZD2 HGNC ENSG00000133401 10 0 0 14 5 26.3158 ADAMTS12 0 genome.wustl.edu 37 5 33576376 33576376 + Missense_Mutation SNP C C T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 5 33576376 33576376 C T SNP ADAMTS12 ENST00000504830 human ensembl 74_37 -1 known missense c.3755 p.G1252E 0.000 NULL 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 252 0 0 88 22 20 IRX1 0 genome.wustl.edu 37 5 3599879 3599879 + Missense_Mutation SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 5 3599879 3599879 G A SNP IRX1 ENST00000302006 human ensembl 74_37 +1 known missense c.817 p.D273N 0.897 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom - no_errors IRX1 HGNC ENSG00000170549 19 0 0 8 3 27.2727 IL6ST 0 genome.wustl.edu 37 5 55238562 55238562 + Nonsense_Mutation SNP C C T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 5 55238562 55238562 C T SNP IL6ST ENST00000336909 human ensembl 74_37 -1 known nonsense c.1955 p.W652* 1.000 NULL pfam_IgC2-like_lig-bd,pfam_Fibronectin_type3,pfam_IL-6_rcpt_alpha-bd,pfam_Growth/epo_recpt_lig-bind,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL6ST HGNC ENSG00000134352 57 0 0 11 4 26.6667 VNN2 0 genome.wustl.edu 37 6 133070863 133070863 + Missense_Mutation SNP C C T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 6 133070863 133070863 C T SNP VNN2 ENST00000326499 human ensembl 74_37 -1 known missense c.1342 p.E448K 0.000 pirsf_Biotinidase_euk pirsf_Biotinidase_euk,pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pfscan_C-N_Hydrolase - no_errors VNN2 HGNC ENSG00000112303 85 0 0 20 3 13.0435 BCLAF1 0 genome.wustl.edu 37 6 136597228 136597228 + Missense_Mutation SNP T T G TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 6 136597228 136597228 T G SNP BCLAF1 ENST00000531224 human ensembl 74_37 -1 known missense c.1435 p.K479Q 1.000 NULL NULL - no_errors BCLAF1 HGNC ENSG00000029363 238 0 0 90 7 7.21649 PHACTR2 0 genome.wustl.edu 37 6 144086875 144086875 + Missense_Mutation SNP C C T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 6 144086875 144086875 C T SNP PHACTR2 ENST00000440869 human ensembl 74_37 +1 known missense c.1172 p.T391M 0.001 NULL pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat - no_errors PHACTR2 HGNC ENSG00000112419 185 0 0 69 16 18.8235 MAS1 0 genome.wustl.edu 37 6 160328940 160328940 + Missense_Mutation SNP C C T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 6 160328940 160328940 C T SNP MAS1 ENST00000252660 human ensembl 74_37 +1 known missense c.953 p.T318M 0.000 prints_Proto-oncogene_Mas pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Proto-oncogene_Mas,prints_GPCR_Rhodpsn - no_errors MAS1 HGNC ENSG00000130368 127 0 0 33 10 23.2558 PRRC2A 0 genome.wustl.edu 37 6 31600501 31600501 + Missense_Mutation SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 6 31600501 31600501 G A SNP PRRC2A ENST00000376007 human ensembl 74_37 +1 known missense c.4051 p.V1351M 0.181 NULL pfam_BAT2_N - no_errors PRRC2A HGNC ENSG00000204469 178 0 0 126 20 13.6986 C6orf25 0 genome.wustl.edu 37 6 31692809 31692809 + Missense_Mutation SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 6 31692809 31692809 G A SNP C6orf25 ENST00000375809 human ensembl 74_37 +1 known missense c.703 p.G235R 0.000 NULL NULL - no_errors C6orf25 HGNC ENSG00000204420 94 0 0 36 31 46.2687 CPNE5 0 genome.wustl.edu 37 6 36710164 36710164 + Missense_Mutation SNP C C T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 6 36710164 36710164 C T SNP CPNE5 ENST00000244751 human ensembl 74_37 -1 known missense c.1663 p.V555M 1.000 NULL pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom,pfscan_VWF_A - no_errors CPNE5 HGNC ENSG00000124772 188 0 0 148 11 6.91824 APOBEC2 0 genome.wustl.edu 37 6 41029224 41029224 + Missense_Mutation SNP G G T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 6 41029224 41029224 G T SNP APOBEC2 ENST00000244669 human ensembl 74_37 +1 known missense c.289 p.A97S 0.215 pfam_APOBEC_N,superfamily_Cytidine_deaminase-like pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like - no_errors APOBEC2 HGNC ENSG00000124701 219 0 0 148 41 21.6931 EYS 0 genome.wustl.edu 37 6 66094316 66094316 + Missense_Mutation SNP T T C TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 6 66094316 66094316 T C SNP EYS ENST00000370616 human ensembl 74_37 -1 known missense c.1262 p.N421S 1.000 NULL pfam_Laminin_G,pfam_EG-like_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 EYS HGNC ENSG00000188107 76 0 0 28 7 20 PIK3CG 0 genome.wustl.edu 37 7 106509085 106509085 + Missense_Mutation SNP A A G TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 7 106509085 106509085 A G SNP PIK3CG ENST00000359195 human ensembl 74_37 +1 known missense c.1079 p.K360R 0.998 superfamily_C2_dom,smart_PI3K_C2_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CG HGNC ENSG00000105851 182 0 0 111 22 16.5414 LAMB1 0 genome.wustl.edu 37 7 107626654 107626654 + Missense_Mutation SNP C C G TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 7 107626654 107626654 C G SNP LAMB1 ENST00000222399 human ensembl 74_37 -1 known missense c.578 p.R193P 1.000 pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N pfam_EGF_laminin,pfam_Laminin_N,superfamily_Prefoldin,superfamily_t-SNARE,superfamily_P-loop_NTPase,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB1 HGNC ENSG00000091136 143 0 0 71 9 11.25 FOXP2 0 genome.wustl.edu 37 7 114302190 114302190 + Missense_Mutation SNP G G T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 7 114302190 114302190 G T SNP FOXP2 ENST00000408937 human ensembl 74_37 +1 known missense c.1793 p.W598L 1.000 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXP2 HGNC ENSG00000128573 109 0 0 36 12 25 THSD7A 0 genome.wustl.edu 37 7 11675950 11675950 + Missense_Mutation SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 7 11675950 11675950 G A SNP THSD7A ENST00000423059 human ensembl 74_37 -1 known missense c.829 p.R277C 0.984 NULL pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7A HGNC ENSG00000005108 207 0 0 66 18 21.4286 KCND2 0 genome.wustl.edu 37 7 119915591 119915591 + Missense_Mutation SNP A A C TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 7 119915591 119915591 A C SNP KCND2 ENST00000331113 human ensembl 74_37 +1 known missense c.905 p.K302T 1.000 pfam_Ion_trans_dom,prints_K_chnl,prints_K_chnl_volt-dep_Kv pfam_K_chnl_volt-dep_Kv4_C,pfam_T1-type_BTB,pfam_Ion_trans_dom,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_Kv4.2,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCND2 HGNC ENSG00000184408 63 0 0 32 6 15.7895 DGKI 0 genome.wustl.edu 37 7 137080436 137080436 + Missense_Mutation SNP T T G TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 7 137080436 137080436 T G SNP DGKI ENST00000288490 human ensembl 74_37 -1 known missense c.2989 p.T997P 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors DGKI HGNC ENSG00000157680 109 0 0 37 7 15.9091 KIAA1549 0 genome.wustl.edu 37 7 138602357 138602357 + Missense_Mutation SNP A A G TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 7 138602357 138602357 A G SNP KIAA1549 ENST00000422774 human ensembl 74_37 -1 known missense c.2015 p.L672S 0.000 NULL NULL - no_errors KIAA1549 HGNC ENSG00000122778 79 0 0 25 8 24.2424 UBN2 0 genome.wustl.edu 37 7 138943256 138943256 + Missense_Mutation SNP C C T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 7 138943256 138943256 C T SNP UBN2 ENST00000473989 human ensembl 74_37 +1 known missense c.686 p.S229F 1.000 NULL NULL - no_errors UBN2 HGNC ENSG00000157741 104 1 0.952381 42 6 12.5 OSBPL3 0 genome.wustl.edu 37 7 24892163 24892163 + Missense_Mutation SNP G G C TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 7 24892163 24892163 G C SNP OSBPL3 ENST00000313367 human ensembl 74_37 -1 known missense c.1118 p.P373R 1.000 NULL pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL3 HGNC ENSG00000070882 97 0 0 37 13 26 HOXA3 0 genome.wustl.edu 37 7 27147987 27147987 + Silent SNP C C T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 7 27147987 27147987 C T SNP HOXA3 ENST00000317201 human ensembl 74_37 -1 known silent c.879 p.S293 0.999 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXA3 HGNC ENSG00000105997 101 0 0 39 9 18.75 CDK13 0 genome.wustl.edu 37 7 40134196 40134196 + Missense_Mutation SNP C C G TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 7 40134196 40134196 C G SNP CDK13 ENST00000181839 human ensembl 74_37 +1 known missense c.4156 p.H1386D 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CDK13 HGNC ENSG00000065883 286 0 0 93 22 19.1304 ZNF12 0 genome.wustl.edu 37 7 6731413 6731413 + Missense_Mutation SNP C C T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 7 6731413 6731413 C T SNP ZNF12 ENST00000405858 human ensembl 74_37 -1 known missense c.1160 p.G387E 0.999 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 ZNF12 HGNC ENSG00000164631 86 0 0 31 7 18.4211 CACNA2D1 0 genome.wustl.edu 37 7 82072713 82072713 + Silent SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 7 82072713 82072713 G A SNP CACNA2D1 ENST00000356253 human ensembl 74_37 -1 known silent c.63 p.P21 0.998 NULL pfam_VDCC_a2/dsu,pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D1 HGNC ENSG00000153956 79 0 0 35 8 18.6047 ZNF804B 0 genome.wustl.edu 37 7 88962859 88962859 + Missense_Mutation SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 7 88962859 88962859 G A SNP ZNF804B ENST00000333190 human ensembl 74_37 +1 known missense c.563 p.R188Q 0.640 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804B HGNC ENSG00000182348 160 1 0.621118 82 13 13.6842 RP1L1 0 genome.wustl.edu 37 8 10469206 10469206 + Missense_Mutation SNP T T C TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 8 10469206 10469206 T C SNP RP1L1 ENST00000382483 human ensembl 74_37 -1 known missense c.2402 p.Q801R 0.000 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1L1 HGNC ENSG00000183638 153 0 0 186 17 8.37438 RIMS2 0 genome.wustl.edu 37 8 104898096 104898096 + Silent SNP T T A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 8 104898096 104898096 T A SNP RIMS2 ENST00000406091 human ensembl 74_37 +1 known silent c.1269 p.S423 0.998 NULL pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel - no_errors RIMS2 HGNC ENSG00000176406 111 0 0 78 16 17.0213 CSMD3 0 genome.wustl.edu 37 8 113569030 113569030 + Missense_Mutation SNP T T A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 8 113569030 113569030 T A SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.4196 p.E1399V 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP 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 129 0 0 54 7 11.4754 PSCA 0 genome.wustl.edu 37 8 143763429 143763429 + Missense_Mutation SNP T T G TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 8 143763429 143763429 T G SNP PSCA ENST00000301258 human ensembl 74_37 +1 known missense c.224 p.I75S 0.032 pfam_LY6_UPAR,smart_LY6_UPA_recep-like pfam_LY6_UPAR,smart_LY6_UPA_recep-like - no_errors PSCA HGNC ENSG00000167653 45 0 0 28 4 12.5 ZNF517 0 genome.wustl.edu 37 8 146033211 146033211 + Missense_Mutation SNP C C T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 8 146033211 146033211 C T SNP ZNF517 ENST00000359971 human ensembl 74_37 +1 known missense c.910 p.L304F 0.935 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 ZNF517 HGNC ENSG00000197363 72 0 0 63 13 17.1053 MYOM2 0 genome.wustl.edu 37 8 2050519 2050519 + Silent SNP C C T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 8 2050519 2050519 C T SNP MYOM2 ENST00000262113 human ensembl 74_37 +1 known silent c.2682 p.G894 0.001 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 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 MYOM2 HGNC ENSG00000036448 81 0 0 27 5 15.625 PHYHIP 0 genome.wustl.edu 37 8 22079330 22079330 + Missense_Mutation SNP C C T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 8 22079330 22079330 C T SNP PHYHIP ENST00000454243 human ensembl 74_37 -1 known missense c.529 p.G177S 1.000 NULL superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors PHYHIP HGNC ENSG00000168490 25 0 0 23 3 11.5385 NEFM 0 genome.wustl.edu 37 8 24772194 24772194 + Silent SNP C C T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 8 24772194 24772194 C T SNP NEFM ENST00000221166 human ensembl 74_37 +1 known silent c.888 p.Y296 1.000 pfam_IF pfam_IF,pfam_Intermed_filament_DNA-bd,superfamily_Prefoldin,prints_Keratin_I - no_errors NEFM HGNC ENSG00000104722 90 0 0 56 17 23.2877 NEFM 0 genome.wustl.edu 37 8 24772258 24772258 + Missense_Mutation SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 8 24772258 24772258 G A SNP NEFM ENST00000221166 human ensembl 74_37 +1 known missense c.952 p.A318T 1.000 pfam_IF pfam_IF,pfam_Intermed_filament_DNA-bd,superfamily_Prefoldin,prints_Keratin_I - no_errors NEFM HGNC ENSG00000104722 48 0 0 33 5 13.1579 CSMD1 0 genome.wustl.edu 37 8 3087591 3087591 + Missense_Mutation SNP A A C TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 8 3087591 3087591 A C SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known missense c.4319 p.F1440C 0.986 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP 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 CSMD1 HGNC ENSG00000183117 121 0 0 30 9 23.0769 PPAPDC1B 0 genome.wustl.edu 37 8 38122420 38122420 + RNA SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 8 38122420 38122420 G A SNP PPAPDC1B ENST00000527758 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors PPAPDC1B HGNC ENSG00000147535 124 0 0 50 11 18.0328 OPRK1 0 genome.wustl.edu 37 8 54142060 54142060 + Missense_Mutation SNP A A C TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 8 54142060 54142060 A C SNP OPRK1 ENST00000265572 human ensembl 74_37 -1 known missense c.940 p.F314V 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,prints_Kappa_opi_rcpt,prints_GPCR_Rhodpsn,prints_Opioid_rcpt,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_Kappa_opi_rcpt,prints_GPCR_Rhodpsn,prints_Opioid_rcpt,prints_Neuropept_B/W_rcpt,prints_Somatstn_rcpt,prints_NPY_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors OPRK1 HGNC ENSG00000082556 80 0 0 35 8 18.6047 OPRK1 0 genome.wustl.edu 37 8 54142218 54142218 + Missense_Mutation SNP C C A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 8 54142218 54142218 C A SNP OPRK1 ENST00000265572 human ensembl 74_37 -1 known missense c.782 p.G261V 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,prints_Opioid_rcpt,prints_Neuropept_B/W_rcpt,prints_Somatstn_rcpt,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_Kappa_opi_rcpt,prints_GPCR_Rhodpsn,prints_Opioid_rcpt,prints_Neuropept_B/W_rcpt,prints_Somatstn_rcpt,prints_NPY_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors OPRK1 HGNC ENSG00000082556 151 0 0 45 13 22.4138 ATP6V1H 0 genome.wustl.edu 37 8 54669199 54669199 + Missense_Mutation SNP A A G TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 8 54669199 54669199 A G SNP ATP6V1H ENST00000359530 human ensembl 74_37 -1 known missense c.1193 p.L398S 1.000 pfam_ATPase_V1-cplx_hsu_C,superfamily_ARM-type_fold,pirsf_ATPase_V1-cplx_hsu pfam_ATPase_V1-cplx_hsu,pfam_ATPase_V1-cplx_hsu_C,superfamily_ARM-type_fold,pirsf_ATPase_V1-cplx_hsu - no_errors ATP6V1H HGNC ENSG00000047249 53 0 0 13 4 23.5294 PREX2 0 genome.wustl.edu 37 8 68968087 68968087 + Missense_Mutation SNP A A C TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 8 68968087 68968087 A C SNP PREX2 ENST00000288368 human ensembl 74_37 +1 known missense c.1116 p.Q372H 1.000 NULL pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX2 HGNC ENSG00000046889 97 0 0 21 10 32.2581 MSC 0 genome.wustl.edu 37 8 72754838 72754838 + RNA SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 8 72754838 72754838 G A SNP MSC ENST00000518440 human ensembl 74_37 -1 putative rna NULL NULL 0.002 - - - no_errors MSC HGNC ENSG00000178860 461 0 0 165 38 18.7192 TRPA1 0 genome.wustl.edu 37 8 72946496 72946496 + Missense_Mutation SNP A A G TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 8 72946496 72946496 A G SNP TRPA1 ENST00000262209 human ensembl 74_37 -1 known missense c.2672 p.L891P 0.995 pfam_Ion_trans_dom pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors TRPA1 HGNC ENSG00000104321 154 0 0 21 8 27.5862 CPQ 0 genome.wustl.edu 37 8 97797433 97797433 + Missense_Mutation SNP T T G TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 8 97797433 97797433 T G SNP CPQ ENST00000220763 human ensembl 74_37 +1 known missense c.308 p.V103G 0.979 NULL pfam_Peptidase_M28,pfam_Peptidase_M20 - no_errors CPQ HGNC ENSG00000104324 97 0 0 36 11 23.4043 PRPF4 0 genome.wustl.edu 37 9 116053021 116053021 + Missense_Mutation SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 9 116053021 116053021 G A SNP PRPF4 ENST00000374198 human ensembl 74_37 +1 known missense c.1190 p.G397E 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_PRP4-like,superfamily_WD40_repeat_dom,smart_SFM,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors PRPF4 HGNC ENSG00000136875 152 0 0 52 13 20 AKNA 0 genome.wustl.edu 37 9 117099370 117099370 + Silent SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 9 117099370 117099370 G A SNP AKNA ENST00000307564 human ensembl 74_37 -1 known silent c.4284 p.R1428 1.000 NULL pfam_TF_AT-hook - no_errors AKNA HGNC ENSG00000106948 24 0 0 16 5 23.8095 BRINP1 0 genome.wustl.edu 37 9 121971060 121971060 + Missense_Mutation SNP C C T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 9 121971060 121971060 C T SNP BRINP1 ENST00000265922 human ensembl 74_37 -1 known missense c.1082 p.R361H 1.000 NULL pfam_MACPF,smart_MACPF - no_errors BRINP1 HGNC ENSG00000078725 104 0 0 48 17 26.1538 TYRP1 0 genome.wustl.edu 37 9 12698586 12698586 + Missense_Mutation SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 9 12698586 12698586 G A SNP TYRP1 ENST00000388918 human ensembl 74_37 +1 known missense c.844 p.V282I 0.999 pfam_Tyrosinase,superfamily_Unchr_di-copper_centre pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase - no_errors TYRP1 HGNC ENSG00000107165 91 0 0 29 2 6.45161 GFI1B 0 genome.wustl.edu 37 9 135866288 135866288 + Missense_Mutation SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 9 135866288 135866288 G A SNP GFI1B ENST00000339463 human ensembl 74_37 +1 known missense c.844 p.G282R 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GFI1B HGNC ENSG00000165702 96 0 0 46 6 11.5385 COL5A1 0 genome.wustl.edu 37 9 137624003 137624003 + RNA SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 9 137624003 137624003 G A SNP COL5A1 ENST00000469093 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors COL5A1 HGNC ENSG00000130635 97 0 0 40 8 16.6667 COL5A1 0 genome.wustl.edu 37 9 137693842 137693842 + Missense_Mutation SNP G G C TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 9 137693842 137693842 G C SNP COL5A1 ENST00000371817 human ensembl 74_37 +1 known missense c.2995 p.V999L 1.000 pfam_Collagen 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 151 0 0 61 9 12.8571 LCN9 0 genome.wustl.edu 37 9 138556088 138556088 + Silent SNP C C T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 9 138556088 138556088 C T SNP LCN9 ENST00000277526 human ensembl 74_37 +1 known silent c.177 p.F59 0.001 pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Odour-bd pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Maj_urinary,prints_Odour-bd,prints_Blactoglobulin - no_errors LCN9 HGNC ENSG00000148386 175 0 0 67 13 16.25 CAMSAP1 0 genome.wustl.edu 37 9 138707824 138707824 + Missense_Mutation SNP T T C TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 9 138707824 138707824 T C SNP CAMSAP1 ENST00000409386 human ensembl 74_37 -1 known missense c.4332 p.I1444M 0.000 NULL pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrel-like,superfamily_CH-domain - no_errors CAMSAP1 HGNC ENSG00000130559 144 0 0 64 11 14.6667 GLIPR2 0 genome.wustl.edu 37 9 36147845 36147845 + Missense_Mutation SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 9 36147845 36147845 G A SNP GLIPR2 ENST00000377960 human ensembl 74_37 +1 known missense c.76 p.V26I 0.776 pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1 pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1 - no_errors GLIPR2 HGNC ENSG00000122694 553 1 0.180505 331 55 14.2487 SPATA31A6 0 genome.wustl.edu 37 9 43626961 43626961 + Missense_Mutation SNP T T C TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 9 43626961 43626961 T C SNP SPATA31A6 ENST00000332857 human ensembl 74_37 -1 known missense c.1726 p.S576G 0.000 NULL NULL - no_errors SPATA31A6 HGNC ENSG00000185775 145 0 0 79 19 19.3878 DAPK1 0 genome.wustl.edu 37 9 90301573 90301573 + Missense_Mutation SNP G G T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 9 90301573 90301573 G T SNP DAPK1 ENST00000469640 human ensembl 74_37 +1 known missense c.2332 p.V778L 1.000 superfamily_P-loop_NTPase pfam_Prot_kinase_dom,pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death_domain,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt - no_errors DAPK1 HGNC ENSG00000196730 37 0 0 29 9 23.6842 FGD3 0 genome.wustl.edu 37 9 95772662 95772662 + Silent SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 9 95772662 95772662 G A SNP FGD3 ENST00000337352 human ensembl 74_37 +1 known silent c.972 p.A324 0.738 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD3 HGNC ENSG00000127084 41 0 0 14 7 33.3333 HABP4 0 genome.wustl.edu 37 9 99227649 99227649 + Silent SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 9 99227649 99227649 G A SNP HABP4 ENST00000375249 human ensembl 74_37 +1 known silent c.543 p.P181 0.116 NULL pfam_HABP4_PAIRBP1-bd - no_errors HABP4 HGNC ENSG00000130956 252 0 0 78 14 15.2174 TEX13B 0 genome.wustl.edu 37 X 107225140 107225140 + Missense_Mutation SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 X 107225140 107225140 G A SNP TEX13B ENST00000302917 human ensembl 74_37 -1 known missense c.218 p.A73V 0.132 NULL NULL - no_errors TEX13B HGNC ENSG00000170925 288 0 0 71 38 34.8624 HTR2C 0 genome.wustl.edu 37 X 114141534 114141534 + Silent SNP A A G TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 X 114141534 114141534 A G SNP HTR2C ENST00000276198 human ensembl 74_37 +1 known silent c.933 p.K311 0.983 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_5HT2C_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt - no_errors HTR2C HGNC ENSG00000147246 341 0 0 87 22 20.1835 MAGEC2 0 genome.wustl.edu 37 X 141290910 141290910 + Silent SNP C C T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 X 141290910 141290910 C T SNP MAGEC2 ENST00000247452 human ensembl 74_37 -1 known silent c.864 p.E288 0.004 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEC2 HGNC ENSG00000046774 256 0 0 58 20 25.641 HEPH 0 genome.wustl.edu 37 X 65393489 65393489 + Silent SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 X 65393489 65393489 G A SNP HEPH ENST00000519389 human ensembl 74_37 +1 known silent c.633 p.P211 0.835 pfam_Cu-oxidase_3,superfamily_Cupredoxin pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Cupredoxin - no_errors HEPH HGNC ENSG00000089472 64 0 0 18 6 25 AR 0 genome.wustl.edu 37 X 66905930 66905930 + Missense_Mutation SNP G G A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 X 66905930 66905930 G A SNP AR ENST00000374690 human ensembl 74_37 +1 known missense c.1847 p.R616H 1.000 pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt pfam_Andrgn_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Andrgn_rcpt,prints_Znf_hrmn_rcpt - no_errors AR HGNC ENSG00000169083 96 0 0 23 9 28.125 MAGEE1 0 genome.wustl.edu 37 X 75650027 75650027 + Silent SNP C C A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 X 75650027 75650027 C A SNP MAGEE1 ENST00000361470 human ensembl 74_37 +1 known silent c.1704 p.P568 0.325 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors MAGEE1 HGNC ENSG00000198934 56 0 0 15 9 37.5 OR10Z1 0 genome.wustl.edu 37 1 158576486 158576487 + Frame_Shift_Ins INS - - G TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 1 158576486 158576487 - G INS OR10Z1 ENST00000361284 human ensembl 74_37 +1 known frame_shift_ins c.258_259 p.D88fs 0.000:0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10Z1 HGNC ENSG00000198967 458 1 0.217865 179 33 15.566 ARID1A 0 genome.wustl.edu 37 1 27100330 27100342 + Frame_Shift_Del DEL ACCCCTTCTGGCA ACCCCTTCTGGCA - TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 ACCCCTTCTGGCA ACCCCTTCTGGCA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 1 27100330 27100342 ACCCCTTCTGGCA - DEL ARID1A ENST00000324856 human ensembl 74_37 +1 known frame_shift_del c.4042_4054 p.T1348fs 1.000:1.000:1.000:1.000:1.000:0.997:0.999:0.999:0.763:0.787:1.000:1.000:1.000 NULL 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 ARID1A HGNC ENSG00000117713 593 0 0 126 24 16 DCDC2B 0 genome.wustl.edu 37 1 32680443 32680443 + Frame_Shift_Del DEL C C - TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 1 32680443 32680443 C - DEL DCDC2B ENST00000409358 human ensembl 74_37 +1 known frame_shift_del c.760 p.P254fs 0.031 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors DCDC2B HGNC ENSG00000222046 163 0 0 46 15 24.5902 PCDH15 0 genome.wustl.edu 37 10 55582575 55582576 + Frame_Shift_Del DEL CT CT - TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 10 55582575 55582576 CT - DEL PCDH15 ENST00000320301 human ensembl 74_37 -1 known frame_shift_del c.4911_4910 p.E1637fs 0.994:0.995 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 224 0 0 64 17 20.9877 MUC6 0 genome.wustl.edu 37 11 1017061 1017061 + Frame_Shift_Del DEL T T - TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 11 1017061 1017061 T - DEL MUC6 ENST00000421673 human ensembl 74_37 -1 known frame_shift_del c.5740 p.T1914fs 0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors MUC6 HGNC ENSG00000184956 2055 0 0 806 156 16.2162 DHX37 0 genome.wustl.edu 37 12 125465270 125465272 + In_Frame_Del DEL CTC CTC - TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 12 125465270 125465272 CTC - DEL DHX37 ENST00000308736 human ensembl 74_37 -1 known in_frame_del c.504_502 p.E168in_frame_del 0.904:0.904:0.905 NULL pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_T2SS_protein-E,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX37 HGNC ENSG00000150990 11 0 0 4 2 33.3333 DCLK1 0 genome.wustl.edu 37 13 36428641 36428642 + Frame_Shift_Ins INS - - CC TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 13 36428641 36428642 - CC INS DCLK1 ENST00000360631 human ensembl 74_37 -1 known frame_shift_ins c.1030_1029 p.Q343fs 1.000:1.000 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 92 0 0 48 5 9.43396 TRAF3 0 genome.wustl.edu 37 14 103371673 103371673 + Frame_Shift_Del DEL G G - TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 14 103371673 103371673 G - DEL TRAF3 ENST00000392745 human ensembl 74_37 +1 known frame_shift_del c.1259 p.W420fs 1.000 superfamily_TRAF-like,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH pfam_MATH,superfamily_TRAF-like,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH,pfscan_Znf_RING,pfscan_Znf_TRAF - no_errors TRAF3 HGNC ENSG00000131323 124 0 0 74 17 18.6813 SMCHD1 0 genome.wustl.edu 37 18 2705785 2705786 + Frame_Shift_Ins INS - - T TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 18 2705785 2705786 - T INS SMCHD1 ENST00000320876 human ensembl 74_37 +1 known frame_shift_ins c.1936_1937 p.G646fs 1.000:1.000 NULL pfam_SMC_hinge,superfamily_SMC_hinge,superfamily_HATPase_ATP-bd,smart_SMC_hinge - no_errors SMCHD1 HGNC ENSG00000101596 113 0 0 33 5 13.1579 PTH2 0 genome.wustl.edu 37 19 49926531 49926533 + In_Frame_Del DEL CAG CAG - TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 CAG CAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 19 49926531 49926533 CAG - DEL PTH2 ENST00000270631 human ensembl 74_37 -1 known in_frame_del c.66_64 p.L22in_frame_del 0.016:0.132:0.132 NULL NULL - no_errors PTH2 HGNC ENSG00000142538 60 0 0 16 3 15.7895 MUC16 0 genome.wustl.edu 37 19 9064483 9064484 + Frame_Shift_Ins INS - - A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 19 9064483 9064484 - A INS MUC16 ENST00000397910 human ensembl 74_37 -1 known frame_shift_ins c.22963_22962 p.Q7654fs 0.002:0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 91 0 0 27 6 18.1818 RHBDD1 0 genome.wustl.edu 37 2 227773563 227773563 + Frame_Shift_Del DEL C C - TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 2 227773563 227773563 C - DEL RHBDD1 ENST00000341329 human ensembl 74_37 +1 known frame_shift_del c.681 p.P228fs 0.000 NULL pfam_Peptidase_S54_rhomboid_dom - no_errors RHBDD1 HGNC ENSG00000144468 312 0 0 71 28 28.2828 NCL 0 genome.wustl.edu 37 2 232326259 232326264 + In_Frame_Del DEL TCATCG TCATCG - TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 TCATCG TCATCG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 2 232326259 232326264 TCATCG - DEL NCL ENST00000322723 human ensembl 74_37 -1 known in_frame_del c.605_600 p.DD200in_frame_del 0.165:0.163:0.007:0.029:0.028:0.000 NULL pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom - no_errors NCL HGNC ENSG00000115053 138 0 0 57 14 19.7183 DMC1 0 genome.wustl.edu 37 22 38935401 38935402 + Frame_Shift_Ins INS - - A TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 22 38935401 38935402 - A INS DMC1 ENST00000216024 human ensembl 74_37 -1 known frame_shift_ins c.511_510 p.R170fs 1.000:1.000 pfam_DNA_recomb/repair_Rad51_C,pfam_DNA_recomb/repair_RecA,pfam_Circ_KaiC/RadA,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pirsf_DNA_recomb/repair_RecA-like,pfscan_DNA_recomb_RecA/RadB_ATP-bd,tigrfam_DMC1_rcmbase pfam_DNA_recomb/repair_Rad51_C,pfam_DNA_recomb/repair_RecA,pfam_Circ_KaiC/RadA,superfamily_P-loop_NTPase,superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,smart_AAA+_ATPase,pirsf_DNA_recomb/repair_RecA-like,pfscan_DNA_recomb_RecA/RadB_ATP-bd,pfscan_RecA_monomer-monomer_interface,tigrfam_DMC1_rcmbase - no_errors DMC1 HGNC ENSG00000100206 159 0 0 40 8 16.6667 GBAS 0 genome.wustl.edu 37 7 56045959 56045962 + Splice_Site DEL GTGA GTGA - TCGA-BR-A4PE-01A-31D-A25D-08 TCGA-BR-A4PE-10A-01D-A25E-08 GTGA GTGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 808cb589-dfd9-482e-8234-56895804eefb b0f561cc-69d4-42a5-b972-7a01202c1d85 7 56045959 56045962 GTGA - DEL GBAS ENST00000322090 human ensembl 74_37 +1 known splice_site_del c.232+1_232+1 e2+1 1.000:1.000:1.000:1.000 - - - no_errors GBAS HGNC ENSG00000146729 184 0 0 109 18 14.1732