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 COL11A1 0 genome.wustl.edu 37 1 103449740 103449740 + Missense_Mutation SNP A A C TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 1 103449740 103449740 A C SNP COL11A1 ENST00000358392 human ensembl 74_37 -1 known missense c.2546 p.L849R 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 COL11A1 HGNC ENSG00000060718 28 0 0 21 11 34.375 VAV3 0 genome.wustl.edu 37 1 108322080 108322080 + Missense_Mutation SNP G G A TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 1 108322080 108322080 G A SNP VAV3 ENST00000370056 human ensembl 74_37 -1 known missense c.356 p.P119L 0.998 superfamily_CH-domain,pfscan_CH-domain pfam_DH-domain,pfam_SH3_2,pfam_CAMSAP_CH,pfam_SH3_domain,pfam_SH2,pfam_CH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,smart_SH2,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain,prints_SH2,prints_SH3_domain,prints_SM22_calponin - no_errors VAV3 HGNC ENSG00000134215 61 0 0 47 5 9.61538 LRIG2 0 genome.wustl.edu 37 1 113633962 113633962 + Missense_Mutation SNP T T C TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 1 113633962 113633962 T C SNP LRIG2 ENST00000361127 human ensembl 74_37 +1 known missense c.262 p.S88P 1.000 NULL pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRIG2 HGNC ENSG00000198799 67 0 0 36 19 34.5455 SIKE1 0 genome.wustl.edu 37 1 115323126 115323126 + Missense_Mutation SNP C C T TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 1 115323126 115323126 C T SNP SIKE1 ENST00000369528 human ensembl 74_37 -1 known missense c.103 p.A35T 0.980 pfam_SIKE pfam_SIKE - no_errors SIKE1 HGNC ENSG00000052723 69 0 0 28 17 37.7778 SPAG17 0 genome.wustl.edu 37 1 118530484 118530484 + Missense_Mutation SNP C C T TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 1 118530484 118530484 C T SNP SPAG17 ENST00000336338 human ensembl 74_37 -1 known missense c.5642 p.R1881H 0.023 NULL NULL - no_errors SPAG17 HGNC ENSG00000155761 40 0 0 26 7 21.2121 SEC22B 0 genome.wustl.edu 37 1 145103921 145103921 + RNA SNP T T A TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 1 145103921 145103921 T A SNP SEC22B ENST00000453618 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors SEC22B HGNC ENSG00000223380 28 0 0 24 4 14.2857 LCE2C 0 genome.wustl.edu 37 1 152648762 152648762 + Missense_Mutation SNP T T C TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 1 152648762 152648762 T C SNP LCE2C ENST00000368783 human ensembl 74_37 +1 known missense c.271 p.C91R 0.224 NULL NULL - no_errors LCE2C HGNC ENSG00000187180 84 0 0 56 25 30.8642 PEAR1 0 genome.wustl.edu 37 1 156884531 156884531 + Missense_Mutation SNP T T A TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 1 156884531 156884531 T A SNP PEAR1 ENST00000292357 human ensembl 74_37 +1 known missense c.3055 p.Y1019N 1.000 NULL pfam_EGF_laminin,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EMI_domain - no_errors PEAR1 HGNC ENSG00000187800 118 0 0 65 27 29.3478 OR10K1 0 genome.wustl.edu 37 1 158435960 158435960 + Silent SNP T T C TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 1 158435960 158435960 T C SNP OR10K1 ENST00000289451 human ensembl 74_37 +1 known silent c.609 p.G203 0.015 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 OR10K1 HGNC ENSG00000173285 135 1 0.735294 88 53 37.5887 LMX1A 0 genome.wustl.edu 37 1 165322361 165322361 + Missense_Mutation SNP G G T TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 1 165322361 165322361 G T SNP LMX1A ENST00000294816 human ensembl 74_37 -1 known missense c.215 p.T72N 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom - no_errors LMX1A HGNC ENSG00000162761 91 0 0 53 16 23.1884 PADI3 0 genome.wustl.edu 37 1 17609472 17609472 + Silent SNP T T A TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 1 17609472 17609472 T A SNP PADI3 ENST00000375460 human ensembl 74_37 +1 known silent c.1893 p.I631 0.998 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 PADI3 HGNC ENSG00000142619 45 0 0 32 10 23.8095 CACNA1E 0 genome.wustl.edu 37 1 181764122 181764122 + Silent SNP T T A TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 1 181764122 181764122 T A SNP CACNA1E ENST00000367573 human ensembl 74_37 +1 known silent c.6150 p.R2050 0.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su - no_errors CACNA1E HGNC ENSG00000198216 69 0 0 42 19 31.1475 NAV1 0 genome.wustl.edu 37 1 201779757 201779757 + Silent SNP C C A TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 1 201779757 201779757 C A SNP NAV1 ENST00000367296 human ensembl 74_37 +1 known silent c.4668 p.L1556 1.000 superfamily_P-loop_NTPase,smart_AAA+_ATPase superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors NAV1 HGNC ENSG00000134369 30 0 0 26 11 29.7297 UBXN10 0 genome.wustl.edu 37 1 20517104 20517104 + Missense_Mutation SNP T T C TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 1 20517104 20517104 T C SNP UBXN10 ENST00000375099 human ensembl 74_37 +1 known missense c.50 p.V17A 0.000 NULL pfam_UBX,smart_UBX,pfscan_UBX - no_errors UBXN10 HGNC ENSG00000162543 86 0 0 50 20 28.5714 USH2A 0 genome.wustl.edu 37 1 216498893 216498893 + Missense_Mutation SNP T T A TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 1 216498893 216498893 T A SNP USH2A ENST00000366943 human ensembl 74_37 -1 known missense c.897 p.Q299H 1.000 smart_Laminin_N,pfscan_Laminin_N pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 60 0 0 24 20 45.4545 HSPG2 0 genome.wustl.edu 37 1 22181166 22181166 + Missense_Mutation SNP C C T TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 1 22181166 22181166 C T SNP HSPG2 ENST00000374695 human ensembl 74_37 -1 known missense c.6226 p.G2076R 0.916 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA_dom,pfscan_Ig-like_dom,prints_LDrepeatLR_classA_rpt - no_errors HSPG2 HGNC ENSG00000142798 19 0 0 9 7 43.75 ACBD3 0 genome.wustl.edu 37 1 226342426 226342426 + Missense_Mutation SNP C C T TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 1 226342426 226342426 C T SNP ACBD3 ENST00000366812 human ensembl 74_37 -1 known missense c.1012 p.A338T 1.000 NULL pfam_Acyl-CoA-binding_protein,superfamily_GOLD,superfamily_Acyl-CoA-binding_protein,pfscan_GOLD - no_errors ACBD3 HGNC ENSG00000182827 64 0 0 38 18 32.1429 OBSCN 0 genome.wustl.edu 37 1 228525812 228525812 + Missense_Mutation SNP G G T TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 1 228525812 228525812 G T SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known missense c.16968 p.W5656C 1.000 superfamily_DH-domain,superfamily_SH3_domain pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 30 0 0 10 6 37.5 GNPAT 0 genome.wustl.edu 37 1 231403644 231403644 + Missense_Mutation SNP G G C TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 1 231403644 231403644 G C SNP GNPAT ENST00000366647 human ensembl 74_37 +1 known missense c.1274 p.W425S 1.000 NULL pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase - no_errors GNPAT HGNC ENSG00000116906 34 0 0 12 10 45.4545 RYR2 0 genome.wustl.edu 37 1 237813237 237813237 + Missense_Mutation SNP T T G TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 1 237813237 237813237 T G SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known missense c.7567 p.L2523V 0.678 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,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,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 154 0 0 99 40 28.777 RYR2 0 genome.wustl.edu 37 1 237947520 237947520 + Missense_Mutation SNP A A G TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 1 237947520 237947520 A G SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known missense c.12526 p.R4176G 0.870 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,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,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 122 0 0 82 28 25.4545 MYOM3 0 genome.wustl.edu 37 1 24407915 24407915 + Missense_Mutation SNP T T A TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 1 24407915 24407915 T A SNP MYOM3 ENST00000330966 human ensembl 74_37 -1 known missense c.2315 p.E772V 1.000 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 MYOM3 HGNC ENSG00000142661 44 0 0 29 19 39.5833 C1orf101 0 genome.wustl.edu 37 1 244716101 244716101 + Silent SNP C C G TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 1 244716101 244716101 C G SNP C1orf101 ENST00000366531 human ensembl 74_37 +1 known silent c.561 p.V187 0.000 NULL NULL - no_errors C1orf101 HGNC ENSG00000179397 60 0 0 46 14 23.3333 NLRP3 0 genome.wustl.edu 37 1 247608050 247608050 + Missense_Mutation SNP G G C TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 1 247608050 247608050 G C SNP NLRP3 ENST00000336119 human ensembl 74_37 +1 known missense c.2938 p.D980H 0.900 smart_Leu-rich_rpt_RNase_inh_sub-typ 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 NLRP3 HGNC ENSG00000162711 49 0 0 26 13 33.3333 OR2G3 0 genome.wustl.edu 37 1 247769370 247769370 + Silent SNP T T C TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 1 247769370 247769370 T C SNP OR2G3 ENST00000320002 human ensembl 74_37 +1 known silent c.483 p.T161 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2G3 HGNC ENSG00000177476 80 0 0 57 32 35.9551 OR2T4 0 genome.wustl.edu 37 1 248524929 248524929 + Missense_Mutation SNP T T C TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 1 248524929 248524929 T C SNP OR2T4 ENST00000366475 human ensembl 74_37 +1 known missense c.47 p.F16S 0.138 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T4 HGNC ENSG00000196944 63 0 0 26 22 45.8333 SRRM1 0 genome.wustl.edu 37 1 24996643 24996643 + Missense_Mutation SNP G G C TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 1 24996643 24996643 G C SNP SRRM1 ENST00000447431 human ensembl 74_37 +1 known missense c.2273 p.R758T 1.000 NULL pfam_PWI_dom,superfamily_PWI_dom,smart_PWI_dom - no_errors SRRM1 HGNC ENSG00000133226 157 0 0 111 44 28.3871 ZNF362 0 genome.wustl.edu 37 1 33760823 33760823 + Missense_Mutation SNP T T A TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 1 33760823 33760823 T A SNP ZNF362 ENST00000373428 human ensembl 74_37 +1 known missense c.1063 p.S355T 0.997 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF362 HGNC ENSG00000160094 82 0 0 51 23 31.0811 CSMD2 0 genome.wustl.edu 37 1 34192262 34192262 + Missense_Mutation SNP G G A TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 1 34192262 34192262 G A SNP CSMD2 ENST00000373381 human ensembl 74_37 -1 known missense c.2393 p.S798L 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD2 HGNC ENSG00000121904 47 0 0 31 10 24.3902 CTPS1 0 genome.wustl.edu 37 1 41475181 41475181 + Silent SNP C C A TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 1 41475181 41475181 C A SNP CTPS1 ENST00000372616 human ensembl 74_37 +1 known silent c.1611 p.S537 0.596 pfam_GATASE,tigrfam_CTP_synthase pfam_CTP_synthase_N,pfam_GATASE,pfam_Peptidase_C26,superfamily_P-loop_NTPase,tigrfam_CTP_synthase - no_errors CTPS1 HGNC ENSG00000171793 105 0 0 86 7 7.52688 MPL 0 genome.wustl.edu 37 1 43805796 43805796 + Silent SNP A A C TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 1 43805796 43805796 A C SNP MPL ENST00000372470 human ensembl 74_37 +1 known silent c.852 p.A284 1.000 superfamily_Fibronectin_type3 pfam_Growth/epo_recpt_lig-bind,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors MPL HGNC ENSG00000117400 19 0 0 7 7 50 PTCH2 0 genome.wustl.edu 37 1 45292299 45292299 + Missense_Mutation SNP G G C TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 1 45292299 45292299 G C SNP PTCH2 ENST00000372192 human ensembl 74_37 -1 known missense c.2837 p.P946R 1.000 pfam_Patched,tigrfam_TM_rcpt_patched pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched - no_errors PTCH2 HGNC ENSG00000117425 36 0 0 18 4 18.1818 ZFYVE9 0 genome.wustl.edu 37 1 52704195 52704195 + Missense_Mutation SNP C C T TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 1 52704195 52704195 C T SNP ZFYVE9 ENST00000287727 human ensembl 74_37 +1 known missense c.1106 p.A369V 0.913 pirsf_Znf_FYVE_SARA/endofin pfam_DUF3480,pfam_SARA_Smad-bd,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pirsf_Znf_FYVE_SARA/endofin,pfscan_Znf_FYVE-rel - no_errors ZFYVE9 HGNC ENSG00000157077 111 0 0 63 5 7.35294 CLCA1 0 genome.wustl.edu 37 1 86964455 86964455 + Missense_Mutation SNP A A T TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 1 86964455 86964455 A T SNP CLCA1 ENST00000234701 human ensembl 74_37 +1 known missense c.2314 p.T772S 1.000 superfamily_Fibronectin_type3,tigrfam_CaCC_prot pfam_Cl_channel_Ca,pfam_DUF1973,pfam_VWF_A,superfamily_Fibronectin_type3,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot - no_errors CLCA1 HGNC ENSG00000016490 97 0 0 70 30 30 CLCA4 0 genome.wustl.edu 37 1 87025894 87025894 + Missense_Mutation SNP G G T TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 1 87025894 87025894 G T SNP CLCA4 ENST00000370563 human ensembl 74_37 +1 known missense c.301 p.A101S 1.000 pfam_Cl_channel_Ca,tigrfam_CaCC_prot pfam_Cl_channel_Ca,pfam_DUF1973,pfam_VWF_A,superfamily_Fibronectin_type3,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot - no_errors CLCA4 HGNC ENSG00000016602 68 0 0 33 10 23.2558 AGRN 0 genome.wustl.edu 37 1 957708 957708 + Missense_Mutation SNP G G C TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 1 957708 957708 G C SNP AGRN ENST00000379370 human ensembl 74_37 +1 known missense c.329 p.G110A 1.000 pfam_Agrin_NtA,superfamily_TIMP-like_OB-fold,pfscan_Agrin_NtA pfam_Laminin_G,pfam_Agrin_NtA,pfam_Kazal_dom,pfam_EGF_laminin,pfam_SEA_dom,pfam_EG-like_dom,superfamily_TIMP-like_OB-fold,superfamily_ConA-like_lec_gl_sf,smart_FacI_MAC,smart_Fol_N,smart_Kazal_dom,smart_EG-like_dom,smart_EGF_laminin,smart_SEA_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Agrin_NtA,pfscan_SEA_dom - no_errors AGRN HGNC ENSG00000188157 158 0 0 121 9 6.92308 PIK3CD 0 genome.wustl.edu 37 1 9770531 9770531 + Missense_Mutation SNP C C A TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 1 9770531 9770531 C A SNP PIK3CD ENST00000536656 human ensembl 74_37 +1 known missense c.18 p.D6E 1.000 NULL pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,pfam_PI3K_Ras-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_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 PIK3CD HGNC ENSG00000171608 186 0 0 98 41 29.4964 DPYD 0 genome.wustl.edu 37 1 97770822 97770822 + Silent SNP T T A TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 1 97770822 97770822 T A SNP DPYD ENST00000370192 human ensembl 74_37 -1 known silent c.2292 p.G764 0.790 pfam_Dihydroorotate_DH_1_2,tigrfam_Dihydroorotate_DH pfam_Dihydroorotate_DH_1_2,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_tRNA_hU_synthase,superfamily_Helical_ferredxn,prints_FAD_pyr_nucl-diS_OxRdtase,tigrfam_Dihydroorotate_DH - no_errors DPYD HGNC ENSG00000188641 112 0 0 77 43 35.8333 LPPR5 0 genome.wustl.edu 37 1 99358629 99358629 + Nonstop_Mutation SNP C C A TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 1 99358629 99358629 C A SNP LPPR5 ENST00000263177 human ensembl 74_37 -1 known nonstop c.965 p.*322L 1.000 NULL pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors LPPR5 Uniprot_gn ENSG00000117598 42 0 0 34 20 37.037 ATRNL1 0 genome.wustl.edu 37 10 117226739 117226739 + Missense_Mutation SNP T T G TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 10 117226739 117226739 T G SNP ATRNL1 ENST00000355044 human ensembl 74_37 +1 known missense c.3473 p.I1158S 1.000 NULL pfam_Kelch_1,pfam_Kelch_2,pfam_Plexin_repeat,pfam_CUB_dom,pfam_EGF_extracell,superfamily_C-type_lectin_fold,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_EG-like_dom,smart_CUB_dom,smart_Plexin-like_fold,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin - no_errors ATRNL1 HGNC ENSG00000107518 41 0 0 55 19 25.6757 DMBT1 0 genome.wustl.edu 37 10 124379796 124379796 + Missense_Mutation SNP C C T TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 10 124379796 124379796 C T SNP DMBT1 ENST00000338354 human ensembl 74_37 +1 known missense c.4886 p.A1629V 0.000 NULL pfam_SRCR,pfam_CUB_dom,pfam_ZP_dom,superfamily_Srcr_rcpt-rel,superfamily_CUB_dom,smart_Srcr_rcpt-rel,smart_CUB_dom,smart_ZP_dom,pfscan_CUB_dom,pfscan_SRCR,pfscan_ZP_dom,prints_SRCR - no_errors DMBT1 HGNC ENSG00000187908 80 0 0 52 35 40.2299 EBF3 0 genome.wustl.edu 37 10 131639180 131639180 + Missense_Mutation SNP C C T TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 10 131639180 131639180 C T SNP EBF3 ENST00000355311 human ensembl 74_37 -1 known missense c.1489 p.A497T 1.000 NULL pfam_IPT,superfamily_Ig_E-set,smart_IPT - no_errors EBF3 HGNC ENSG00000108001 177 0 0 154 47 23.3831 PTER 0 genome.wustl.edu 37 10 16553244 16553244 + Missense_Mutation SNP A A C TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 10 16553244 16553244 A C SNP PTER ENST00000298942 human ensembl 74_37 +1 known missense c.1039 p.T347P 0.998 pfam_Aryldialkylphosphatase pfam_Aryldialkylphosphatase,pfam_TatD_family - no_errors PTER HGNC ENSG00000165983 99 0 0 91 29 24.1667 STAM 0 genome.wustl.edu 37 10 17702492 17702492 + Missense_Mutation SNP G G A TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 10 17702492 17702492 G A SNP STAM ENST00000377524 human ensembl 74_37 +1 known missense c.70 p.E24K 1.000 pfam_VHS,superfamily_ENTH_VHS,smart_VHS_subgr,pfscan_VHS pfam_VHS,pfam_SH3_domain,pfam_SH3_2,pfam_Ubiquitin-int_motif,superfamily_ENTH_VHS,superfamily_SH3_domain,smart_VHS_subgr,smart_SH3_domain,pfscan_SH3_domain,pfscan_Ubiquitin-int_motif,pfscan_VHS,prints_SH3_domain,prints_p67phox - no_errors STAM HGNC ENSG00000136738 99 0 0 68 66 49.2537 KIAA1217 0 genome.wustl.edu 37 10 24833163 24833163 + Missense_Mutation SNP C C T TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 10 24833163 24833163 C T SNP KIAA1217 ENST00000376454 human ensembl 74_37 +1 known missense c.4964 p.T1655I 1.000 NULL pfam_AIP3_C - no_errors KIAA1217 HGNC ENSG00000120549 62 0 0 47 9 16.0714 FRMPD2 0 genome.wustl.edu 37 10 49431234 49431234 + Missense_Mutation SNP C C A TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 10 49431234 49431234 C A SNP FRMPD2 ENST00000374201 human ensembl 74_37 -1 known missense c.1248 p.K416N 0.952 pfam_FERM_N,smart_Band_41_domain,pfscan_FERM_domain pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_PDZ,superfamily_FERM_central,superfamily_Kinase-like_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,pfscan_FERM_domain,pfscan_PDZ,prints_Band_41_fam - no_errors FRMPD2 HGNC ENSG00000170324 74 0 0 37 59 61.4583 VSTM4 0 genome.wustl.edu 37 10 50255037 50255037 + Missense_Mutation SNP T T A TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 10 50255037 50255037 T A SNP VSTM4 ENST00000332853 human ensembl 74_37 -1 known missense c.828 p.K276N 0.999 NULL pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors VSTM4 HGNC ENSG00000165633 234 0 0 198 71 26.3941 OGDHL 0 genome.wustl.edu 37 10 50955074 50955074 + Splice_Site SNP C C G TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 10 50955074 50955074 C G SNP OGDHL ENST00000374103 human ensembl 74_37 -1 known splice_site c.1167+1 e8+1 1.000 - - - no_errors OGDHL HGNC ENSG00000197444 66 0 0 37 36 49.3151 CTNNA3 0 genome.wustl.edu 37 10 68940188 68940188 + Missense_Mutation SNP C C A TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 10 68940188 68940188 C A SNP CTNNA3 ENST00000373744 human ensembl 74_37 -1 known missense c.934 p.A312S 1.000 pfam_Vinculin/catenin,prints_Alpha_catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA3 HGNC ENSG00000183230 80 0 0 40 28 41.1765 KCNMA1 0 genome.wustl.edu 37 10 78651324 78651324 + Missense_Mutation SNP C C A TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 10 78651324 78651324 C A SNP KCNMA1 ENST00000406533 human ensembl 74_37 -1 known missense c.3313 p.A1105S 1.000 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_RCK_N,prints_K_chnl_Ca-activ_BK_asu,prints_K_chnl - no_errors KCNMA1 HGNC ENSG00000156113 46 0 0 22 17 43.5897 EIF5AL1 0 genome.wustl.edu 37 10 81272683 81272683 + Missense_Mutation SNP G G T TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 10 81272683 81272683 G T SNP EIF5AL1 ENST00000520547 human ensembl 74_37 +1 known missense c.278 p.G93V 0.992 pfam_Transl_elong_IF5A_C,superfamily_NA-bd_OB-fold,pirsf_Transl_elong_IF5A,tigrfam_Transl_elong_IF5A pfam_Transl_elong_IF5A_C,superfamily_Translation_prot_SH3-like,superfamily_NA-bd_OB-fold,pirsf_Transl_elong_IF5A,tigrfam_Transl_elong_IF5A - no_errors EIF5AL1 HGNC ENSG00000253626 57 0 0 18 35 66.0377 FAM35A 0 genome.wustl.edu 37 10 88911205 88911205 + Missense_Mutation SNP G G T TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 10 88911205 88911205 G T SNP FAM35A ENST00000298786 human ensembl 74_37 +1 known missense c.94 p.V32F 0.000 NULL NULL - no_errors FAM35A HGNC ENSG00000122376 36 0 0 13 5 27.7778 PTEN 0 genome.wustl.edu 37 10 89692993 89692993 + Missense_Mutation SNP G G T TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 10 89692993 89692993 G T SNP PTEN ENST00000371953 human ensembl 74_37 +1 known missense c.477 p.R159S 1.000 pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_dom,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors PTEN HGNC ENSG00000171862 52 0 0 23 17 42.5 CNTN5 0 genome.wustl.edu 37 11 100168424 100168424 + Nonsense_Mutation SNP G G A TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 11 100168424 100168424 G A SNP CNTN5 ENST00000279463 human ensembl 74_37 +1 known nonsense c.2382 p.W794* 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN5 HGNC ENSG00000149972 18 0 0 19 4 17.3913 SIK3 0 genome.wustl.edu 37 11 116827717 116827717 + Missense_Mutation SNP C C T TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 11 116827717 116827717 C T SNP SIK3 ENST00000375300 human ensembl 74_37 -1 known missense c.337 p.E113K 1.000 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 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_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom - no_errors SIK3 HGNC ENSG00000160584 226 0 0 199 73 26.8382 CBL 0 genome.wustl.edu 37 11 119145617 119145617 + Missense_Mutation SNP G G C TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 11 119145617 119145617 G C SNP CBL ENST00000264033 human ensembl 74_37 +1 known missense c.823 p.D275H 1.000 pfam_Adaptor_Cbl_SH2-like pfam_Adaptor_Cbl_N_hlx,pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Znf_C3HC4_RING-type,pfam_UBA/Ts_N,superfamily_Adaptor_Cbl_N_hlx,superfamily_UBA-like,smart_Znf_RING,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_RING - no_errors CBL HGNC ENSG00000110395 91 0 0 116 7 5.69106 DKK3 0 genome.wustl.edu 37 11 12023884 12023884 + Missense_Mutation SNP C C G TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 11 12023884 12023884 C G SNP DKK3 ENST00000326932 human ensembl 74_37 -1 known missense c.314 p.G105A 1.000 NULL pfam_Dickkopf_N - no_errors DKK3 HGNC ENSG00000050165 67 0 0 17 37 68.5185 UBASH3B 0 genome.wustl.edu 37 11 122650272 122650272 + Missense_Mutation SNP A A C TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 11 122650272 122650272 A C SNP UBASH3B ENST00000284273 human ensembl 74_37 +1 known missense c.470 p.K157T 1.000 superfamily_RNA_ligase/cNuc_Pdiesterase pfam_His_Pase_superF_clade-1,pfam_SH3_domain,pfam_UBA/Ts_N,superfamily_UBA-like,superfamily_SH3_domain,superfamily_RNA_ligase/cNuc_Pdiesterase,smart_UBA/transl_elong_EF1B_N_euk,smart_SH3_domain,pfscan_SH3_domain,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors UBASH3B HGNC ENSG00000154127 71 0 0 71 20 21.978 VWA5A 0 genome.wustl.edu 37 11 124007906 124007906 + Missense_Mutation SNP G G T TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 11 124007906 124007906 G T SNP VWA5A ENST00000392748 human ensembl 74_37 +1 known missense c.1810 p.A604S 0.000 NULL pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors VWA5A HGNC ENSG00000110002 54 0 0 73 14 16.092 OR8D1 0 genome.wustl.edu 37 11 124180067 124180067 + Missense_Mutation SNP A A C TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 11 124180067 124180067 A C SNP OR8D1 ENST00000357821 human ensembl 74_37 -1 known missense c.596 p.L199R 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8D1 HGNC ENSG00000196341 30 0 0 41 16 28.0702 ARHGAP32 0 genome.wustl.edu 37 11 128844888 128844888 + Missense_Mutation SNP T T C TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 11 128844888 128844888 T C SNP ARHGAP32 ENST00000310343 human ensembl 74_37 -1 known missense c.2162 p.K721R 1.000 NULL pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,pfam_Phox,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Phox,smart_SH3_domain,smart_RhoGAP_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors ARHGAP32 HGNC ENSG00000134909 89 0 0 78 26 25 NAV2 0 genome.wustl.edu 37 11 19961238 19961238 + Missense_Mutation SNP G G T TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 11 19961238 19961238 G T SNP NAV2 ENST00000396087 human ensembl 74_37 +1 known missense c.2134 p.A712S 0.990 NULL pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV2 HGNC ENSG00000166833 86 0 0 51 7 12.069 ANO5 0 genome.wustl.edu 37 11 22232833 22232833 + Silent SNP C C G TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 11 22232833 22232833 C G SNP ANO5 ENST00000324559 human ensembl 74_37 +1 known silent c.111 p.T37 0.992 NULL pfam_Anoctamin - no_errors ANO5 HGNC ENSG00000171714 140 0 0 99 38 27.7372 ANO3 0 genome.wustl.edu 37 11 26655759 26655759 + Nonsense_Mutation SNP C C T TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 11 26655759 26655759 C T SNP ANO3 ENST00000256737 human ensembl 74_37 +1 known nonsense c.1882 p.R628* 1.000 pfam_Anoctamin pfam_Anoctamin - no_errors ANO3 HGNC ENSG00000134343 43 0 0 43 10 18.8679 DCDC1 0 genome.wustl.edu 37 11 31086675 31086675 + Missense_Mutation SNP T T C TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 11 31086675 31086675 T C SNP DCDC1 ENST00000597505 human ensembl 74_37 -1 putative missense c.2324 p.Y775C 1.000 superfamily_Ricin_B_lectin,pfscan_Ricin_B_lectin pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Doublecortin_dom,pfscan_Doublecortin_dom,pfscan_Ricin_B_lectin - no_errors DCDC1 HGNC ENSG00000170959 48 0 0 17 30 63.8298 DEPDC7 0 genome.wustl.edu 37 11 33054236 33054236 + Missense_Mutation SNP A A G TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 11 33054236 33054236 A G SNP DEPDC7 ENST00000241051 human ensembl 74_37 +1 known missense c.1160 p.K387R 1.000 NULL pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom - no_errors DEPDC7 HGNC ENSG00000121690 39 0 0 42 3 6.66667 PAMR1 0 genome.wustl.edu 37 11 35457534 35457534 + Missense_Mutation SNP G G T TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 11 35457534 35457534 G T SNP PAMR1 ENST00000278360 human ensembl 74_37 -1 known missense c.1301 p.P434H 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Peptidase_S1,pfam_CUB_dom,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_EG-like_dom,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1 - no_errors PAMR1 HGNC ENSG00000149090 184 0 0 101 53 34.4156 COMMD9 0 genome.wustl.edu 37 11 36300048 36300048 + Missense_Mutation SNP G G T TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 11 36300048 36300048 G T SNP COMMD9 ENST00000263401 human ensembl 74_37 -1 known missense c.296 p.T99K 1.000 pfam_HCaRG pfam_HCaRG - no_errors COMMD9 HGNC ENSG00000110442 104 0 0 31 49 61.25 ALKBH3 0 genome.wustl.edu 37 11 43904723 43904723 + Missense_Mutation SNP C C G TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 11 43904723 43904723 C G SNP ALKBH3 ENST00000302708 human ensembl 74_37 +1 known missense c.168 p.F56L 0.990 NULL pfam_Oxoglu/Fe-dep_dioxygenase - no_errors ALKBH3 HGNC ENSG00000166199 26 0 0 12 13 52 MADD 0 genome.wustl.edu 37 11 47330873 47330873 + Missense_Mutation SNP G G A TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 11 47330873 47330873 G A SNP MADD ENST00000311027 human ensembl 74_37 +1 known missense c.3973 p.E1325K 1.000 NULL pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors MADD HGNC ENSG00000110514 82 0 0 45 33 42.3077 RNH1 0 genome.wustl.edu 37 11 499100 499100 + Missense_Mutation SNP C C T TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 11 499100 499100 C T SNP RNH1 ENST00000354420 human ensembl 74_37 -1 known missense c.529 p.V177I 0.002 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp - no_errors RNH1 HGNC ENSG00000023191 43 0 0 15 14 48.2759 OR4C46 0 genome.wustl.edu 37 11 51516067 51516067 + Silent SNP T T G TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 11 51516067 51516067 T G SNP OR4C46 ENST00000328188 human ensembl 74_37 +1 known silent c.786 p.T262 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C46 HGNC ENSG00000185926 64 0 0 50 48 48.9796 OR10AG1 0 genome.wustl.edu 37 11 55735739 55735739 + Silent SNP G G A TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 11 55735739 55735739 G A SNP OR10AG1 ENST00000312345 human ensembl 74_37 -1 known silent c.201 p.I67 0.001 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 OR10AG1 HGNC ENSG00000174970 76 0 0 81 24 22.8571 OR5T2 0 genome.wustl.edu 37 11 55999993 55999993 + Silent SNP G G A TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 11 55999993 55999993 G A SNP OR5T2 ENST00000313264 human ensembl 74_37 -1 known silent c.669 p.L223 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5T2 HGNC ENSG00000181718 141 0 0 98 69 41.3174 MS4A14 0 genome.wustl.edu 37 11 60184453 60184453 + Missense_Mutation SNP T T G TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 11 60184453 60184453 T G SNP MS4A14 ENST00000300187 human ensembl 74_37 +1 known missense c.2012 p.L671R 0.000 NULL pfam_CD20-like - no_errors MS4A14 HGNC ENSG00000166928 77 0 0 78 20 20.4082 NRXN2 0 genome.wustl.edu 37 11 64428403 64428403 + Missense_Mutation SNP G G T TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 11 64428403 64428403 G T SNP NRXN2 ENST00000265459 human ensembl 74_37 -1 known missense c.2007 p.D669E 0.995 superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN2 HGNC ENSG00000110076 23 0 0 17 19 52.7778 SF1 0 genome.wustl.edu 37 11 64533411 64533411 + Missense_Mutation SNP G G C TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 11 64533411 64533411 G C SNP SF1 ENST00000377390 human ensembl 74_37 -1 known missense c.1799 p.P600R 1.000 NULL pfam_KH_dom_type_1,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_KH_dom,smart_Znf_CCHC,pfscan_Znf_CCHC,pfscan_KH_dom_type_1 - no_errors SF1 HGNC ENSG00000168066 9 0 0 6 10 62.5 C11orf85 0 genome.wustl.edu 37 11 64717264 64717264 + Silent SNP A A T TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 11 64717264 64717264 A T SNP C11orf85 ENST00000301896 human ensembl 74_37 -1 known silent c.300 p.V100 1.000 NULL NULL - no_errors C11orf85 HGNC ENSG00000168070 98 0 0 85 56 39.7163 DPF2 0 genome.wustl.edu 37 11 65113830 65113830 + Silent SNP C C T TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 11 65113830 65113830 C T SNP DPF2 ENST00000528416 human ensembl 74_37 +1 known silent c.1017 p.D339 0.997 pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_C2H2-like,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_C2H2 - no_errors DPF2 HGNC ENSG00000133884 58 0 0 29 30 50.8475 NPAS4 0 genome.wustl.edu 37 11 66191589 66191589 + Missense_Mutation SNP C C T TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 11 66191589 66191589 C T SNP NPAS4 ENST00000311034 human ensembl 74_37 +1 known missense c.1228 p.P410S 0.999 NULL pfam_PAS_fold_3,superfamily_PAS,smart_PAS,pfscan_PAS - no_errors NPAS4 HGNC ENSG00000174576 106 0 0 70 60 46.1538 TPP1 0 genome.wustl.edu 37 11 6638035 6638035 + Missense_Mutation SNP C C A TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 11 6638035 6638035 C A SNP TPP1 ENST00000299427 human ensembl 74_37 -1 known missense c.743 p.G248V 0.999 superfamily_Peptidase_S8/S53_dom pfam_Peptidase_S53_propep,pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom,superfamily_Prot_inh_propept,smart_Peptidase_S53_propep - no_errors TPP1 HGNC ENSG00000166340 219 0 0 106 46 30.2632 DCHS1 0 genome.wustl.edu 37 11 6653650 6653650 + Silent SNP A A G TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 11 6653650 6653650 A G SNP DCHS1 ENST00000299441 human ensembl 74_37 -1 known silent c.3093 p.P1031 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS1 HGNC ENSG00000166341 33 0 0 9 16 64 RPS6KB2 0 genome.wustl.edu 37 11 67200659 67200659 + Missense_Mutation SNP C C T TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 11 67200659 67200659 C T SNP RPS6KB2 ENST00000312629 human ensembl 74_37 +1 known missense c.770 p.A257V 1.000 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,pirsf_Ribosomal_S6_kinase,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase,pfscan_Prot_kinase_dom - no_errors RPS6KB2 HGNC ENSG00000175634 10 0 0 3 4 57.1429 MTL5 0 genome.wustl.edu 37 11 68475825 68475825 + Nonsense_Mutation SNP G G T TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 11 68475825 68475825 G T SNP MTL5 ENST00000255087 human ensembl 74_37 -1 known nonsense c.1478 p.S493* 0.090 NULL pfam_CRC,superfamily_Thionin - no_errors MTL5 HGNC ENSG00000132749 146 0 0 125 46 26.9006 C11orf30 0 genome.wustl.edu 37 11 76234316 76234316 + Missense_Mutation SNP C C A TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 11 76234316 76234316 C A SNP C11orf30 ENST00000334736 human ensembl 74_37 +1 known missense c.1802 p.T601K 1.000 NULL pfam_ENT_N,pfscan_ENT_N - no_errors C11orf30 HGNC ENSG00000158636 35 0 0 45 12 21.0526 MTMR2 0 genome.wustl.edu 37 11 95569393 95569393 + Silent SNP G G T TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 11 95569393 95569393 G T SNP MTMR2 ENST00000346299 human ensembl 74_37 -1 known silent c.1689 p.V563 1.000 NULL pfam_Myotubularin-like_Pase_dom,pfam_GRAM,smart_GRAM,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase - no_errors MTMR2 HGNC ENSG00000087053 112 0 0 78 65 45.4545 KLRC3 0 genome.wustl.edu 37 12 10568373 10568373 + Missense_Mutation SNP G G C TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 12 10568373 10568373 G C SNP KLRC3 ENST00000381903 human ensembl 74_37 -1 known missense c.608 p.A203G 0.000 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors KLRC3 HGNC ENSG00000205810 70 0 0 54 5 8.47458 MED13L 0 genome.wustl.edu 37 12 116434872 116434872 + Silent SNP T T C TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 12 116434872 116434872 T C SNP MED13L ENST00000281928 human ensembl 74_37 -1 known silent c.2733 p.T911 0.655 NULL pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun - no_errors MED13L HGNC ENSG00000123066 213 0 0 123 71 36.5979 SLCO1B7 0 genome.wustl.edu 37 12 21172239 21172239 + Missense_Mutation SNP A A C TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 12 21172239 21172239 A C SNP SLCO1B7 ENST00000421593 human ensembl 74_37 +1 known missense c.143 p.K48T 0.227 pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO1B7 HGNC ENSG00000205754 47 0 0 36 11 23.4043 ABCC9 0 genome.wustl.edu 37 12 21997442 21997442 + Missense_Mutation SNP G G A TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 12 21997442 21997442 G A SNP ABCC9 ENST00000261200 human ensembl 74_37 -1 known missense c.3290 p.S1097L 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_Sulphorea_rcpt,prints_Sulphonylurea_rcpt-2 - no_errors ABCC9 HGNC ENSG00000069431 123 0 0 43 72 62.6087 LRRK2 0 genome.wustl.edu 37 12 40753186 40753186 + Missense_Mutation SNP T T C TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 12 40753186 40753186 T C SNP LRRK2 ENST00000298910 human ensembl 74_37 +1 known missense c.6968 p.I2323T 0.994 superfamily_WD40_repeat_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,tigrfam_Small_GTP-bd_dom - no_errors LRRK2 HGNC ENSG00000188906 86 0 0 27 44 61.9718 ARID2 0 genome.wustl.edu 37 12 46298716 46298716 + Splice_Site SNP G G C TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 12 46298716 46298716 G C SNP ARID2 ENST00000334344 human ensembl 74_37 +1 known splice_site c.5364-1 e21-1 1.000 - - - no_errors ARID2 HGNC ENSG00000189079 27 0 0 19 21 52.5 KRT2 0 genome.wustl.edu 37 12 53044145 53044145 + Missense_Mutation SNP G G T TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 12 53044145 53044145 G T SNP KRT2 ENST00000309680 human ensembl 74_37 -1 known missense c.778 p.L260I 0.999 pfam_IF,prints_Keratin_II pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT2 HGNC ENSG00000172867 180 0 0 102 38 27.1429 ITGA5 0 genome.wustl.edu 37 12 54803127 54803127 + Missense_Mutation SNP G G A TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 12 54803127 54803127 G A SNP ITGA5 ENST00000293379 human ensembl 74_37 -1 known missense c.472 p.P158S 1.000 NULL pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA5 HGNC ENSG00000161638 21 0 0 10 7 41.1765 PDE1B 0 genome.wustl.edu 37 12 54967231 54967231 + Missense_Mutation SNP A A T TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 12 54967231 54967231 A T SNP PDE1B ENST00000243052 human ensembl 74_37 +1 known missense c.929 p.N310I 1.000 pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom pfam_PDEase_catalytic_dom,pfam_PDEase_N,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE1B HGNC ENSG00000123360 82 0 0 31 44 58.6667 PPP1R1A 0 genome.wustl.edu 37 12 54975775 54975775 + Missense_Mutation SNP A A T TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 12 54975775 54975775 A T SNP PPP1R1A ENST00000257905 human ensembl 74_37 -1 known missense c.388 p.S130T 0.006 pfam_PPI_1DARPP-32 pfam_PPI_1DARPP-32 - no_errors PPP1R1A HGNC ENSG00000135447 109 0 0 52 22 29.7297 ARHGEF25 0 genome.wustl.edu 37 12 58004392 58004392 + Missense_Mutation SNP C C T TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 12 58004392 58004392 C T SNP ARHGEF25 ENST00000333972 human ensembl 74_37 +1 known missense c.139 p.P47S 0.008 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF25 HGNC ENSG00000240771 46 0 0 10 20 66.6667 VWF 0 genome.wustl.edu 37 12 6128804 6128804 + Missense_Mutation SNP C C A TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 12 6128804 6128804 C A SNP VWF ENST00000261405 human ensembl 74_37 -1 known missense c.3780 p.E1260D 0.998 pirsf_VWF pirsf_VWF,pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C - no_errors VWF HGNC ENSG00000110799 55 0 0 21 29 58 CCT2 0 genome.wustl.edu 37 12 69991508 69991508 + Missense_Mutation SNP C C T TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 12 69991508 69991508 C T SNP CCT2 ENST00000299300 human ensembl 74_37 +1 known missense c.1193 p.A398V 1.000 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_beta pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_beta - no_errors CCT2 HGNC ENSG00000166226 54 0 0 13 18 58.0645 TPH2 0 genome.wustl.edu 37 12 72366417 72366417 + Missense_Mutation SNP T T G TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 12 72366417 72366417 T G SNP TPH2 ENST00000333850 human ensembl 74_37 +1 known missense c.727 p.F243V 1.000 pfam_Aromatic-AA_hydroxylase_C,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,tigrfam_Trp_5_mOase pfam_Aromatic-AA_hydroxylase_C,pfam_ACT_dom,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Trp_5_mOase - no_errors TPH2 HGNC ENSG00000139287 417 0 0 146 253 63.4085 TRHDE 0 genome.wustl.edu 37 12 72956767 72956767 + Silent SNP T T C TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 12 72956767 72956767 T C SNP TRHDE ENST00000261180 human ensembl 74_37 +1 known silent c.1854 p.H618 1.000 NULL pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors TRHDE HGNC ENSG00000072657 147 0 0 69 76 52.4138 PZP 0 genome.wustl.edu 37 12 9304868 9304868 + Missense_Mutation SNP A A C TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 12 9304868 9304868 A C SNP PZP ENST00000261336 human ensembl 74_37 -1 known missense c.4160 p.V1387G 0.977 pfam_A-macroglobulin_rcpt-bd,superfamily_A-macroglobulin_rcpt-bd pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_SV_autoAg,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd - no_errors PZP HGNC ENSG00000126838 99 0 0 28 54 65.8537 TM9SF2 0 genome.wustl.edu 37 13 100199353 100199353 + Missense_Mutation SNP A A G TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 13 100199353 100199353 A G SNP TM9SF2 ENST00000376387 human ensembl 74_37 +1 known missense c.1265 p.Y422C 1.000 pfam_EMP70 pfam_EMP70 - no_errors TM9SF2 HGNC ENSG00000125304 119 1 0.833333 123 32 20.6452 NALCN 0 genome.wustl.edu 37 13 101714417 101714417 + Missense_Mutation SNP A A G TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 13 101714417 101714417 A G SNP NALCN ENST00000251127 human ensembl 74_37 -1 known missense c.4658 p.L1553P 1.000 NULL pfam_Ion_trans_dom - no_errors NALCN HGNC ENSG00000102452 60 0 0 43 31 41.8919 ITGBL1 0 genome.wustl.edu 37 13 102235690 102235690 + Silent SNP T T C TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 13 102235690 102235690 T C SNP ITGBL1 ENST00000376180 human ensembl 74_37 +1 known silent c.852 p.S284 0.999 pfam_EGF_extracell,smart_EG-like_dom pfam_EGF_extracell,smart_EG-like_dom - no_errors ITGBL1 HGNC ENSG00000198542 183 0 0 181 48 20.9607 SLC10A2 0 genome.wustl.edu 37 13 103703731 103703731 + Missense_Mutation SNP C C T TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 13 103703731 103703731 C T SNP SLC10A2 ENST00000245312 human ensembl 74_37 -1 known missense c.637 p.G213R 1.000 pfam_BilAc/Na_symport,tigrfam_Bil_ac_transpt pfam_BilAc/Na_symport,tigrfam_Bil_ac_transpt - no_errors SLC10A2 HGNC ENSG00000125255 63 0 0 54 44 44.898 TPTE2 0 genome.wustl.edu 37 13 20024422 20024422 + Missense_Mutation SNP G G C TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 13 20024422 20024422 G C SNP TPTE2 ENST00000382977 human ensembl 74_37 -1 known missense c.865 p.H289D 1.000 pfam_Dual-sp_phosphatase_cat-dom,pfscan_Phosphatase_tensin-typ pfam_Tensin_phosphatase_C2-dom,pfam_Ion_trans_dom,pfam_Dual-sp_phosphatase_cat-dom,superfamily_C2_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TPTE2 HGNC ENSG00000132958 118 0 0 74 69 48.2517 N6AMT2 0 genome.wustl.edu 37 13 21306107 21306107 + Silent SNP G G C TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 13 21306107 21306107 G C SNP N6AMT2 ENST00000382754 human ensembl 74_37 -1 known silent c.381 p.P127 0.000 pfam_N6_adenine_Mtase-rel_euk pfam_N6_adenine_Mtase-rel_euk - no_errors N6AMT2 HGNC ENSG00000150456 75 0 0 59 42 41.5842 MTUS2 0 genome.wustl.edu 37 13 29601027 29601027 + Missense_Mutation SNP A A C TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 13 29601027 29601027 A C SNP MTUS2 ENST00000431530 human ensembl 74_37 +1 known missense c.2222 p.K741T 1.000 NULL NULL - no_errors MTUS2 HGNC ENSG00000132938 51 0 0 36 30 45.4545 N4BP2L1 0 genome.wustl.edu 37 13 32977295 32977295 + Missense_Mutation SNP C C T TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 13 32977295 32977295 C T SNP N4BP2L1 ENST00000380130 human ensembl 74_37 -1 known missense c.516 p.M172I 1.000 pfam_Zeta_toxin_domain,superfamily_P-loop_NTPase pfam_Zeta_toxin_domain,superfamily_P-loop_NTPase - no_errors N4BP2L1 HGNC ENSG00000139597 78 0 0 66 16 19.5122 CCNA1 0 genome.wustl.edu 37 13 37007220 37007220 + Silent SNP A A C TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 13 37007220 37007220 A C SNP CCNA1 ENST00000255465 human ensembl 74_37 +1 known silent c.159 p.G53 0.004 NULL pfam_Cyclin_N,pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E - no_errors CCNA1 HGNC ENSG00000133101 121 0 0 75 56 42.7481 ENOX1 0 genome.wustl.edu 37 13 43934124 43934124 + Missense_Mutation SNP T T C TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 13 43934124 43934124 T C SNP ENOX1 ENST00000261488 human ensembl 74_37 -1 known missense c.452 p.E151G 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors ENOX1 HGNC ENSG00000120658 58 0 0 55 18 24.6575 PCDH8 0 genome.wustl.edu 37 13 53419718 53419718 + Missense_Mutation SNP G G A TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 13 53419718 53419718 G A SNP PCDH8 ENST00000377942 human ensembl 74_37 -1 known missense c.2681 p.A894V 1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH8 HGNC ENSG00000136099 51 0 0 31 9 22.5 KLC1 0 genome.wustl.edu 37 14 104139748 104139748 + Missense_Mutation SNP G G T TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 14 104139748 104139748 G T SNP KLC1 ENST00000334553 human ensembl 74_37 +1 known missense c.1241 p.R414M 1.000 smart_TPR_repeat,pfscan_TPR-contain_dom pfam_Rabaptin_Rab5-bd_dom,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Kinesin_light - no_errors KLC1 HGNC ENSG00000126214 61 0 0 30 16 34.7826 BNIP3P1 0 genome.wustl.edu 37 14 28733791 28733791 + RNA SNP A A G TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 14 28733791 28733791 A G SNP BNIP3P1 ENST00000550043 human ensembl 74_37 +1 known rna NULL NULL 0.926 - - - no_errors BNIP3P1 HGNC ENSG00000197358 23 0 0 16 4 20 NIN 0 genome.wustl.edu 37 14 51239704 51239704 + Missense_Mutation SNP G G C TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 14 51239704 51239704 G C SNP NIN ENST00000245441 human ensembl 74_37 -1 known missense c.776 p.T259S 1.000 NULL superfamily_tRNA-bd_arm,pfscan_EF_hand_dom - no_errors NIN HGNC ENSG00000100503 33 0 0 28 8 22.2222 FERMT2 0 genome.wustl.edu 37 14 53386031 53386031 + Missense_Mutation SNP C C A TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 14 53386031 53386031 C A SNP FERMT2 ENST00000343279 human ensembl 74_37 -1 known missense c.201 p.K67N 1.000 NULL pfam_FERM_central,pfam_Pleckstrin_homology,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors FERMT2 HGNC ENSG00000073712 121 0 0 78 23 22.7723 JKAMP 0 genome.wustl.edu 37 14 59954532 59954532 + Silent SNP C C T TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 14 59954532 59954532 C T SNP JKAMP ENST00000356057 human ensembl 74_37 +1 known silent c.261 p.Y87 1.000 pfam_DUF766 pfam_DUF766 - no_errors JKAMP HGNC ENSG00000050130 217 0 0 120 60 33.3333 SYNE2 0 genome.wustl.edu 37 14 64483265 64483265 + Silent SNP A A G TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 14 64483265 64483265 A G SNP SYNE2 ENST00000358025 human ensembl 74_37 +1 known silent c.4803 p.L1601 0.980 NULL pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 22 0 0 15 5 25 ZFYVE26 0 genome.wustl.edu 37 14 68273333 68273333 + Missense_Mutation SNP G G C TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 14 68273333 68273333 G C SNP ZFYVE26 ENST00000347230 human ensembl 74_37 -1 known missense c.946 p.P316A 0.004 NULL pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors ZFYVE26 HGNC ENSG00000072121 59 0 0 51 25 32.8947 SLC8A3 0 genome.wustl.edu 37 14 70634187 70634187 + Missense_Mutation SNP C C T TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 14 70634187 70634187 C T SNP SLC8A3 ENST00000381269 human ensembl 74_37 -1 known missense c.953 p.R318Q 1.000 tigrfam_Na_Ca_Ex pfam_NaCa_Exmemb,pfam_Calx_beta,smart_Calx_beta,prints_Na_Ca_Ex,tigrfam_Na_Ca_Ex - no_errors SLC8A3 HGNC ENSG00000100678 86 0 0 39 24 38.0952 ADAM21P1 0 genome.wustl.edu 37 14 70712997 70712997 + RNA SNP C C T TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 14 70712997 70712997 C T SNP ADAM21P1 ENST00000530196 human ensembl 74_37 -1 known rna NULL NULL 0.740 - - - no_errors ADAM21P1 HGNC ENSG00000235812 49 0 0 33 13 28.2609 SIPA1L1 0 genome.wustl.edu 37 14 72055765 72055765 + Silent SNP G G A TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 14 72055765 72055765 G A SNP SIPA1L1 ENST00000555818 human ensembl 74_37 +1 known silent c.1176 p.L392 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 50 0 0 30 11 26.8293 PAPLN 0 genome.wustl.edu 37 14 73711448 73711448 + Missense_Mutation SNP C C T TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 14 73711448 73711448 C T SNP PAPLN ENST00000427855 human ensembl 74_37 +1 known missense c.151 p.R51C 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS pfam_Ig_I-set,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Prot_inh_Kunz-m,pfam_PLAC,superfamily_Prot_inh_Kunz-m,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Prot_inh_Kunz-m,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Prot_inh_Kunz-m,pfscan_Ig-like_dom,prints_Peptidase_M12B_ADAM-TS,prints_Prot_inh_Kunz-m - no_errors PAPLN HGNC ENSG00000100767 11 0 0 3 4 57.1429 SYNDIG1L 0 genome.wustl.edu 37 14 74874600 74874600 + Silent SNP G G C TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 14 74874600 74874600 G C SNP SYNDIG1L ENST00000331628 human ensembl 74_37 -1 known silent c.510 p.L170 1.000 pfam_CD225/Dispanin_fam pfam_CD225/Dispanin_fam - no_errors SYNDIG1L HGNC ENSG00000183379 38 0 0 31 9 22.5 NRXN3 0 genome.wustl.edu 37 14 80328202 80328202 + Silent SNP C C T TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 14 80328202 80328202 C T SNP NRXN3 ENST00000335750 human ensembl 74_37 +1 known silent c.3081 p.I1027 1.000 NULL pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN3 HGNC ENSG00000021645 37 0 0 16 7 30.4348 TRIP11 0 genome.wustl.edu 37 14 92470272 92470272 + Missense_Mutation SNP C C T TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 14 92470272 92470272 C T SNP TRIP11 ENST00000267622 human ensembl 74_37 -1 known missense c.4048 p.E1350K 0.258 NULL superfamily_Ribosomal_L29,pfscan_GRIP - no_errors TRIP11 HGNC ENSG00000100815 100 0 0 55 29 34.5238 SLC24A4 0 genome.wustl.edu 37 14 92959928 92959928 + Missense_Mutation SNP G G A TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 14 92959928 92959928 G A SNP SLC24A4 ENST00000532405 human ensembl 74_37 +1 known missense c.1825 p.V609I 1.000 NULL pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger - no_errors SLC24A4 HGNC ENSG00000140090 30 0 0 14 9 39.1304 GABRB3 0 genome.wustl.edu 37 15 26806140 26806140 + Missense_Mutation SNP T T A TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 15 26806140 26806140 T A SNP GABRB3 ENST00000299267 human ensembl 74_37 -1 known missense c.1019 p.K340M 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAb_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRB3 HGNC ENSG00000166206 78 0 0 32 33 50.7692 OCA2 0 genome.wustl.edu 37 15 28211866 28211866 + Missense_Mutation SNP G G T TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 15 28211866 28211866 G T SNP OCA2 ENST00000354638 human ensembl 74_37 -1 known missense c.1606 p.L536I 1.000 pfam_Cit_transptr-like_dom,pfam_Arsenical_pump_ArsB,tigrfam_Arsenical_pump_ArsB pfam_Cit_transptr-like_dom,pfam_Na/sul_symport,pfam_Arsenical_pump_ArsB,tigrfam_Arsenical_pump_ArsB - no_errors OCA2 HGNC ENSG00000104044 70 0 0 15 14 48.2759 RYR3 0 genome.wustl.edu 37 15 34129190 34129190 + Splice_Site SNP T T C TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 15 34129190 34129190 T C SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known splice_site c.11650+2 e88+2 1.000 - - - no_errors RYR3 HGNC ENSG00000198838 39 0 0 6 7 53.8462 SEMA6D 0 genome.wustl.edu 37 15 48063084 48063084 + Missense_Mutation SNP A A G TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 15 48063084 48063084 A G SNP SEMA6D ENST00000316364 human ensembl 74_37 +1 known missense c.2324 p.E775G 1.000 NULL pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom - no_errors SEMA6D HGNC ENSG00000137872 70 0 0 28 19 40.4255 WDR72 0 genome.wustl.edu 37 15 53908253 53908253 + Missense_Mutation SNP T T G TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 15 53908253 53908253 T G SNP WDR72 ENST00000360509 human ensembl 74_37 -1 known missense c.2150 p.K717T 0.978 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR72 HGNC ENSG00000166415 68 0 0 20 14 41.1765 ALPK3 0 genome.wustl.edu 37 15 85406846 85406846 + Missense_Mutation SNP G G A TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 15 85406846 85406846 G A SNP ALPK3 ENST00000258888 human ensembl 74_37 +1 known missense c.5080 p.A1694T 0.001 pfam_MHCK_EF2_kinase,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like_dom - no_errors ALPK3 HGNC ENSG00000136383 49 0 0 17 11 39.2857 KLHL25 0 genome.wustl.edu 37 15 86311776 86311776 + Missense_Mutation SNP G G T TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 15 86311776 86311776 G T SNP KLHL25 ENST00000337975 human ensembl 74_37 -1 known missense c.1266 p.N422K 1.000 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL25 HGNC ENSG00000183655 47 0 0 12 9 42.8571 BFAR 0 genome.wustl.edu 37 16 14758921 14758921 + Missense_Mutation SNP G G C TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 16 14758921 14758921 G C SNP BFAR ENST00000261658 human ensembl 74_37 +1 known missense c.1153 p.E385Q 1.000 NULL pfam_SAM_type1,pfam_Znf_C3HC4_RING-type,pfam_SAM_2,superfamily_SAM/pointed,smart_Znf_RING,smart_SAM,pfscan_SAM,pfscan_Znf_RING - no_errors BFAR HGNC ENSG00000103429 34 0 0 27 14 34.1463 DCUN1D3 0 genome.wustl.edu 37 16 20871547 20871547 + Missense_Mutation SNP G G T TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 16 20871547 20871547 G T SNP DCUN1D3 ENST00000324344 human ensembl 74_37 -1 known missense c.576 p.D192E 1.000 pfam_PONY_dom pfam_PONY_dom - no_errors DCUN1D3 HGNC ENSG00000188215 176 0 0 60 89 59.7315 GTF3C1 0 genome.wustl.edu 37 16 27509002 27509002 + Missense_Mutation SNP T T G TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 16 27509002 27509002 T G SNP GTF3C1 ENST00000356183 human ensembl 74_37 -1 known missense c.2306 p.N769T 1.000 NULL pfam_TFIIIC_Bblock-bd - no_errors GTF3C1 HGNC ENSG00000077235 94 0 0 44 19 30.1587 ADCY9 0 genome.wustl.edu 37 16 4016160 4016160 + Silent SNP T T C TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 16 4016160 4016160 T C SNP ADCY9 ENST00000294016 human ensembl 74_37 -1 known silent c.3678 p.R1226 0.281 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY9 HGNC ENSG00000162104 179 0 0 94 49 34.2657 ADCY7 0 genome.wustl.edu 37 16 50342255 50342255 + Missense_Mutation SNP T T A TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 16 50342255 50342255 T A SNP ADCY7 ENST00000254235 human ensembl 74_37 +1 known missense c.1868 p.V623E 0.981 NULL pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY7 HGNC ENSG00000121281 142 0 0 44 69 61.0619 ADCY7 0 genome.wustl.edu 37 16 50343519 50343519 + Missense_Mutation SNP G G A TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 16 50343519 50343519 G A SNP ADCY7 ENST00000254235 human ensembl 74_37 +1 known missense c.2122 p.A708T 0.000 NULL pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY7 HGNC ENSG00000121281 48 0 0 14 26 65 SALL1 0 genome.wustl.edu 37 16 51175799 51175799 + Missense_Mutation SNP C C T TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 16 51175799 51175799 C T SNP SALL1 ENST00000251020 human ensembl 74_37 -1 known missense c.334 p.D112N 0.999 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL1 HGNC ENSG00000103449 164 0 0 83 36 30.2521 MMP2 0 genome.wustl.edu 37 16 55527097 55527097 + Missense_Mutation SNP C C A TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 16 55527097 55527097 C A SNP MMP2 ENST00000219070 human ensembl 74_37 +1 known missense c.1364 p.T455N 0.804 NULL pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Kringle-like,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,smart_Hemopexin-like_repeat,pfscan_FN_type2_col-bd,prints_Pept_M10A - no_errors MMP2 HGNC ENSG00000087245 55 0 0 16 25 60.9756 KIAA0513 0 genome.wustl.edu 37 16 85111161 85111161 + Silent SNP G G A TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 16 85111161 85111161 G A SNP KIAA0513 ENST00000258180 human ensembl 74_37 +1 known silent c.705 p.S235 0.395 NULL pfam_SBF2 - no_errors KIAA0513 HGNC ENSG00000135709 36 0 0 17 20 54.0541 MYH13 0 genome.wustl.edu 37 17 10216005 10216005 + Silent SNP C C T TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 17 10216005 10216005 C T SNP MYH13 ENST00000252172 human ensembl 74_37 -1 known silent c.4251 p.S1417 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH13 HGNC ENSG00000006788 27 0 0 9 6 40 MYH4 0 genome.wustl.edu 37 17 10351989 10351989 + Missense_Mutation SNP C C T TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 17 10351989 10351989 C T SNP MYH4 ENST00000255381 human ensembl 74_37 -1 known missense c.4477 p.E1493K 1.000 pfam_Myosin_tail,superfamily_tRNA-bd_arm pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH4 HGNC ENSG00000264424 111 0 0 34 33 49.2537 KRT16P2 0 genome.wustl.edu 37 17 16734855 16734855 + RNA SNP C C T TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 17 16734855 16734855 C T SNP KRT16P2 ENST00000579062 human ensembl 74_37 -1 known rna NULL NULL 0.999 - - - no_errors KRT16P2 HGNC ENSG00000227300 24 0 0 26 3 10.3448 PROCA1 0 genome.wustl.edu 37 17 27031231 27031231 + Splice_Site SNP C C G TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 17 27031231 27031231 C G SNP PROCA1 ENST00000439862 human ensembl 74_37 -1 known splice_site c.363-1 e5-1 1.000 - - - no_errors PROCA1 HGNC ENSG00000167525 87 0 0 108 29 21.1679 LHX1 0 genome.wustl.edu 37 17 35300353 35300353 + Silent SNP G G A TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 17 35300353 35300353 G A SNP LHX1 ENST00000254457 human ensembl 74_37 +1 known silent c.1146 p.L382 1.000 NULL pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom - no_errors LHX1 HGNC ENSG00000132130 40 0 0 17 6 26.087 DGKE 0 genome.wustl.edu 37 17 54912210 54912210 + Silent SNP G G A TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 17 54912210 54912210 G A SNP DGKE ENST00000284061 human ensembl 74_37 +1 known silent c.54 p.A18 0.914 NULL pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors DGKE HGNC ENSG00000153933 243 0 0 167 71 29.8319 DGKE 0 genome.wustl.edu 37 17 54912211 54912211 + Missense_Mutation SNP G G T TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 17 54912211 54912211 G T SNP DGKE ENST00000284061 human ensembl 74_37 +1 known missense c.55 p.D19Y 1.000 NULL pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors DGKE HGNC ENSG00000153933 238 0 0 167 70 29.5359 ABCA6 0 genome.wustl.edu 37 17 67136759 67136759 + Missense_Mutation SNP T T A TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 17 67136759 67136759 T A SNP ABCA6 ENST00000284425 human ensembl 74_37 -1 known missense c.86 p.E29V 0.893 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA6 HGNC ENSG00000154262 48 0 0 42 23 35.3846 COG1 0 genome.wustl.edu 37 17 71192707 71192707 + Missense_Mutation SNP A A G TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 17 71192707 71192707 A G SNP COG1 ENST00000299886 human ensembl 74_37 +1 known missense c.377 p.E126G 0.883 NULL NULL - no_errors COG1 HGNC ENSG00000166685 155 0 0 80 54 40.2985 FBF1 0 genome.wustl.edu 37 17 73913844 73913844 + Missense_Mutation SNP C C G TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 17 73913844 73913844 C G SNP FBF1 ENST00000389570 human ensembl 74_37 -1 known missense c.2432 p.R811P 1.000 NULL superfamily_HRDC-like - no_errors FBF1 HGNC ENSG00000188878 17 0 0 15 3 16.6667 ZACN 0 genome.wustl.edu 37 17 74077711 74077711 + Missense_Mutation SNP G G C TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 17 74077711 74077711 G C SNP ZACN ENST00000334586 human ensembl 74_37 +1 known missense c.755 p.G252A 0.949 superfamily_Neurotrans-gated_channel_TM pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM - no_errors ZACN HGNC ENSG00000186919 185 0 0 86 40 31.746 EXOC7 0 genome.wustl.edu 37 17 74093928 74093928 + Nonsense_Mutation SNP G G A TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 17 74093928 74093928 G A SNP EXOC7 ENST00000335146 human ensembl 74_37 -1 known nonsense c.589 p.Q197* 0.962 superfamily_Cullin_repeat-like_dom pfam_Exo70,superfamily_Cullin_repeat-like_dom - no_errors EXOC7 HGNC ENSG00000182473 106 0 0 56 29 34.1176 SLC25A10 0 genome.wustl.edu 37 17 79671335 79671335 + Missense_Mutation SNP G G A TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 17 79671335 79671335 G A SNP SLC25A10 ENST00000541223 human ensembl 74_37 +1 known missense c.136 p.E46K 0.991 NULL pfam_Mitochondrial_sb/sol_carrier,pfam_Ribosomal_L7/L12_C,superfamily_Mt_carrier_dom,superfamily_Ribosomal_L7/L12_oligo,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_uncoupling - no_errors SLC25A10 HGNC ENSG00000183048 40 0 0 18 14 43.75 DSG3 0 genome.wustl.edu 37 18 29054099 29054099 + Missense_Mutation SNP C C T TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 18 29054099 29054099 C T SNP DSG3 ENST00000257189 human ensembl 74_37 +1 known missense c.2117 p.T706M 0.087 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmosomal_cadherin - no_errors DSG3 HGNC ENSG00000134757 107 0 0 28 48 63.1579 SLC14A2 0 genome.wustl.edu 37 18 43262349 43262349 + Silent SNP C C A TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 18 43262349 43262349 C A SNP SLC14A2 ENST00000255226 human ensembl 74_37 +1 known silent c.2628 p.T876 1.000 pfam_Urea_transporter pfam_Urea_transporter - no_errors SLC14A2 HGNC ENSG00000132874 291 0 0 184 89 32.6007 ATP8B1 0 genome.wustl.edu 37 18 55338741 55338741 + Nonsense_Mutation SNP G G A TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 18 55338741 55338741 G A SNP ATP8B1 ENST00000283684 human ensembl 74_37 -1 known nonsense c.1891 p.R631* 0.992 pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,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 ATP8B1 HGNC ENSG00000081923 97 0 0 43 53 55.2083 KCNG2 0 genome.wustl.edu 37 18 77659615 77659615 + Silent SNP G G A TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 18 77659615 77659615 G A SNP KCNG2 ENST00000316249 human ensembl 74_37 +1 known silent c.1200 p.P400 0.979 pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv - no_errors KCNG2 HGNC ENSG00000178342 78 0 0 18 38 67.8571 PPAN 0 genome.wustl.edu 37 19 10221724 10221724 + Missense_Mutation SNP G G T TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 19 10221724 10221724 G T SNP PPAN ENST00000253107 human ensembl 74_37 +1 known missense c.1305 p.K435N 0.000 NULL pfam_Brix,superfamily_Anticodon-bd,smart_Brix,pfscan_Brix - no_errors PPAN HGNC ENSG00000130810 50 0 0 23 13 36.1111 S1PR2 0 genome.wustl.edu 37 19 10334638 10334638 + Missense_Mutation SNP C C T TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 19 10334638 10334638 C T SNP S1PR2 ENST00000590320 human ensembl 74_37 -1 known missense c.944 p.R315Q 0.890 prints_EDG5_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_EDG5_rcpt,prints_GPCR_Rhodpsn,prints_S1P_rcpt,prints_Melcrt_ACTH_rcpt - no_errors S1PR2 HGNC ENSG00000267534 22 0 0 5 16 76.1905 SMARCA4 0 genome.wustl.edu 37 19 11138521 11138521 + Nonsense_Mutation SNP C C T TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 19 11138521 11138521 C T SNP SMARCA4 ENST00000358026 human ensembl 74_37 +1 known nonsense c.3277 p.R1093* 1.000 superfamily_P-loop_NTPase,pfscan_Helicase_C pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,prints_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain - no_errors SMARCA4 HGNC ENSG00000127616 164 0 0 55 85 60.7143 ZNF333 0 genome.wustl.edu 37 19 14817553 14817553 + Missense_Mutation SNP G G T TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 19 14817553 14817553 G T SNP ZNF333 ENST00000292530 human ensembl 74_37 +1 known missense c.479 p.G160V 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,smart_Znf_BED_prd,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF333 HGNC ENSG00000160961 96 0 0 52 23 30.6667 PSMD8 0 genome.wustl.edu 37 19 38873943 38873943 + Silent SNP G G A TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 19 38873943 38873943 G A SNP PSMD8 ENST00000215071 human ensembl 74_37 +1 known silent c.966 p.Q322 1.000 NULL pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25 - no_errors PSMD8 HGNC ENSG00000099341 60 0 0 7 22 75.8621 FBXO17 0 genome.wustl.edu 37 19 39439306 39439306 + Missense_Mutation SNP C C A TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 19 39439306 39439306 C A SNP FBXO17 ENST00000292852 human ensembl 74_37 -1 known missense c.362 p.G121V 1.000 pfam_F-box-assoc_dom,superfamily_Galactose-bd-like,pfscan_F-box-assoc_dom pfam_F-box-assoc_dom,pfam_F-box_dom,superfamily_Galactose-bd-like,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom,pfscan_F-box-assoc_dom - no_errors FBXO17 HGNC ENSG00000269190 89 0 0 29 44 60.274 PRX 0 genome.wustl.edu 37 19 40901570 40901570 + Nonsense_Mutation SNP G G A TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 19 40901570 40901570 G A SNP PRX ENST00000324001 human ensembl 74_37 -1 known nonsense c.2689 p.R897* 0.129 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PRX HGNC ENSG00000105227 92 0 0 38 47 55.2941 CEACAM7 0 genome.wustl.edu 37 19 42187748 42187748 + Missense_Mutation SNP C C G TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 19 42187748 42187748 C G SNP CEACAM7 ENST00000006724 human ensembl 74_37 -1 known missense c.674 p.S225T 0.000 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors CEACAM7 HGNC ENSG00000007306 252 1 0.395257 142 62 30.3922 PPP5D1 0 genome.wustl.edu 37 19 47028997 47028997 + Missense_Mutation SNP C C T TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 19 47028997 47028997 C T SNP PPP5D1 ENST00000414155 human ensembl 74_37 -1 putative missense c.280 p.V94M 1.000 pfam_PPP_dom pfam_PPP_dom - no_errors PPP5D1 HGNC ENSG00000230510 21 0 0 19 3 13.6364 PRRG2 0 genome.wustl.edu 37 19 50086866 50086866 + Missense_Mutation SNP C C A TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 19 50086866 50086866 C A SNP PRRG2 ENST00000246794 human ensembl 74_37 +1 known missense c.153 p.N51K 0.990 superfamily_GLA_domain,smart_GLA_domain,pfscan_GLA_domain pfam_GLA_domain,superfamily_GLA_domain,smart_GLA_domain,pfscan_GLA_domain,prints_GLA_domain - no_errors PRRG2 HGNC ENSG00000126460 140 0 0 40 58 59.1837 MUC16 0 genome.wustl.edu 37 19 9085519 9085519 + Missense_Mutation SNP G G C TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 19 9085519 9085519 G C SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.6296 p.S2099C 0.113 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 173 0 0 89 49 35.5072 SLC5A7 0 genome.wustl.edu 37 2 108626799 108626799 + Missense_Mutation SNP A A C TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 2 108626799 108626799 A C SNP SLC5A7 ENST00000264047 human ensembl 74_37 +1 known missense c.1225 p.S409R 1.000 pfam_Na/solute_symporter,pfscan_Na/solute_symporter pfam_Na/solute_symporter,pfscan_Na/solute_symporter - no_errors SLC5A7 HGNC ENSG00000115665 74 0 0 79 20 20.202 KCNF1 0 genome.wustl.edu 37 2 11053005 11053005 + Missense_Mutation SNP C C A TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 2 11053005 11053005 C A SNP KCNF1 ENST00000295082 human ensembl 74_37 +1 known missense c.453 p.D151E 1.000 NULL pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,pfam_PKD1_2_channel,superfamily_BTB/POZ_fold,prints_K_chnl,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv6 - no_errors KCNF1 HGNC ENSG00000162975 40 0 0 30 20 40 GLI2 0 genome.wustl.edu 37 2 121744183 121744183 + Silent SNP G G A TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 2 121744183 121744183 G A SNP GLI2 ENST00000361492 human ensembl 74_37 +1 known silent c.2286 p.P762 0.994 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI2 HGNC ENSG00000074047 60 0 0 34 34 50 NCKAP5 0 genome.wustl.edu 37 2 133489467 133489467 + Silent SNP A A C TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 2 133489467 133489467 A C SNP NCKAP5 ENST00000317721 human ensembl 74_37 -1 known silent c.5286 p.S1762 0.043 NULL NULL - no_errors NCKAP5 HGNC ENSG00000176771 79 0 0 79 24 23.301 THSD7B 0 genome.wustl.edu 37 2 138163188 138163188 + Missense_Mutation SNP T T A TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 2 138163188 138163188 T A SNP THSD7B ENST00000272643 human ensembl 74_37 +1 known missense c.2506 p.S836T 0.786 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 54 0 0 21 24 53.3333 PXDN 0 genome.wustl.edu 37 2 1639282 1639282 + Silent SNP A A G TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 2 1639282 1639282 A G SNP PXDN ENST00000252804 human ensembl 74_37 -1 known silent c.4218 p.L1406 0.996 NULL pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom - no_errors PXDN HGNC ENSG00000130508 14 0 0 4 7 63.6364 CSRNP3 0 genome.wustl.edu 37 2 166535369 166535369 + Silent SNP G G A TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 2 166535369 166535369 G A SNP CSRNP3 ENST00000314499 human ensembl 74_37 +1 known silent c.864 p.L288 1.000 NULL prints_Cys/Ser-rich_nuc_prot - no_errors CSRNP3 HGNC ENSG00000178662 62 0 0 57 23 28.75 GALNT3 0 genome.wustl.edu 37 2 166611517 166611517 + Silent SNP T T C TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 2 166611517 166611517 T C SNP GALNT3 ENST00000392701 human ensembl 74_37 -1 known silent c.1449 p.K483 1.000 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT3 HGNC ENSG00000115339 53 0 0 61 5 7.57576 SCN1A 0 genome.wustl.edu 37 2 166848769 166848769 + Silent SNP G G A TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 2 166848769 166848769 G A SNP SCN1A ENST00000303395 human ensembl 74_37 -1 known silent c.5016 p.N1672 1.000 pfam_Ion_trans_dom,pfam_PKD1_2_channel pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_a1su,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN1A HGNC ENSG00000144285 118 0 0 67 59 46.8254 SCN1A 0 genome.wustl.edu 37 2 166897847 166897847 + Missense_Mutation SNP A A G TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 2 166897847 166897847 A G SNP SCN1A ENST00000303395 human ensembl 74_37 -1 known missense c.2309 p.V770A 1.000 NULL pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_a1su,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN1A HGNC ENSG00000144285 72 0 0 66 60 47.619 LRP2 0 genome.wustl.edu 37 2 170063676 170063676 + Missense_Mutation SNP A A C TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 2 170063676 170063676 A C SNP LRP2 ENST00000263816 human ensembl 74_37 -1 known missense c.6554 p.L2185R 0.999 smart_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,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 LRP2 HGNC ENSG00000081479 79 0 0 82 34 29.3103 TTN 0 genome.wustl.edu 37 2 179453733 179453733 + Missense_Mutation SNP T T G TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 2 179453733 179453733 T G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.55015 p.K18339Q 1.000 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 17 0 0 15 6 28.5714 TTN 0 genome.wustl.edu 37 2 179501403 179501403 + Missense_Mutation SNP T T C TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 2 179501403 179501403 T C SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.33347 p.K11116R 1.000 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,pfscan_Ig-like_dom 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 43 0 0 40 18 31.0345 TTN 0 genome.wustl.edu 37 2 179554061 179554061 + Missense_Mutation SNP T T C TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 2 179554061 179554061 T C SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.28235 p.K9412R 0.086 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom 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 36 0 0 28 14 33.3333 TTN 0 genome.wustl.edu 37 2 179604512 179604512 + Missense_Mutation SNP T T C TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 2 179604512 179604512 T C SNP TTN ENST00000342175 human ensembl 74_37 -1 known missense c.12935 p.E4312G 1.000 superfamily_RNaseH-like_dom pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,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 162 0 0 112 114 50.4425 TTN 0 genome.wustl.edu 37 2 179611317 179611317 + Silent SNP T T C TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 2 179611317 179611317 T C SNP TTN ENST00000360870 human ensembl 74_37 -1 known silent c.15810 p.V5270 0.806 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 49 0 0 47 15 24.1935 DNAJC10 0 genome.wustl.edu 37 2 183622502 183622502 + Nonsense_Mutation SNP C C A TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 2 183622502 183622502 C A SNP DNAJC10 ENST00000264065 human ensembl 74_37 +1 known nonsense c.1893 p.Y631* 1.000 pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,pirsf_DnaJ_homolog_subfam-C pfam_Thioredoxin_domain,pfam_DnaJ_domain,superfamily_Thioredoxin-like_fold,superfamily_DnaJ_domain,smart_DnaJ_domain,pirsf_DnaJ_homolog_subfam-C,pfscan_DnaJ_domain,prints_DnaJ_domain,prints_Thioredoxin - no_errors DNAJC10 HGNC ENSG00000077232 71 0 0 63 18 22.2222 DNAH7 0 genome.wustl.edu 37 2 196825250 196825250 + Silent SNP A A T TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 2 196825250 196825250 A T SNP DNAH7 ENST00000312428 human ensembl 74_37 -1 known silent c.2625 p.S875 0.000 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom - no_errors DNAH7 HGNC ENSG00000118997 87 0 0 74 28 27.451 ORC2 0 genome.wustl.edu 37 2 201776038 201776038 + Missense_Mutation SNP C C G TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 2 201776038 201776038 C G SNP ORC2 ENST00000234296 human ensembl 74_37 -1 known missense c.1720 p.E574Q 1.000 NULL pfam_ORC2 - no_errors ORC2 HGNC ENSG00000115942 41 0 0 48 10 17.2414 MAP2 0 genome.wustl.edu 37 2 210558202 210558202 + Silent SNP T T C TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 2 210558202 210558202 T C SNP MAP2 ENST00000360351 human ensembl 74_37 +1 known silent c.1308 p.T436 0.130 pfam_MAP2_projctn pfam_MAP2_projctn,pfam_MAP_tubulin-bd_rpt - no_errors MAP2 HGNC ENSG00000078018 48 0 0 54 12 18.1818 MAP2 0 genome.wustl.edu 37 2 210574735 210574735 + Silent SNP T T G TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 2 210574735 210574735 T G SNP MAP2 ENST00000360351 human ensembl 74_37 +1 known silent c.4830 p.S1610 1.000 NULL pfam_MAP2_projctn,pfam_MAP_tubulin-bd_rpt - no_errors MAP2 HGNC ENSG00000078018 135 0 0 107 35 24.6479 RUFY4 0 genome.wustl.edu 37 2 218940223 218940223 + Missense_Mutation SNP A A T TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 2 218940223 218940223 A T SNP RUFY4 ENST00000374155 human ensembl 74_37 +1 known missense c.1068 p.E356D 0.001 NULL pfam_Run,superfamily_Znf_FYVE_PHD,smart_Run,pfscan_Run - no_errors RUFY4 HGNC ENSG00000188282 18 0 0 13 4 23.5294 CXCR1 0 genome.wustl.edu 37 2 219029005 219029005 + Missense_Mutation SNP T T G TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 2 219029005 219029005 T G SNP CXCR1 ENST00000295683 human ensembl 74_37 -1 known missense c.930 p.Q310H 1.000 prints_GPCR_Rhodpsn,prints_Chemokine_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR_1/2,prints_GPCR_Rhodpsn,prints_Chemokine_CXCR1,prints_Chemokine_rcpt,prints_Chemokine_CXCR4 - no_errors CXCR1 HGNC ENSG00000163464 86 0 0 90 32 26.2295 PAX3 0 genome.wustl.edu 37 2 223158874 223158874 + Missense_Mutation SNP G G C TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 2 223158874 223158874 G C SNP PAX3 ENST00000409828 human ensembl 74_37 -1 known missense c.598 p.R200G 0.056 NULL pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX3 HGNC ENSG00000135903 137 0 0 101 27 21.0938 TRIP12 0 genome.wustl.edu 37 2 230633988 230633988 + Silent SNP C C T TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 2 230633988 230633988 C T SNP TRIP12 ENST00000283943 human ensembl 74_37 -1 known silent c.5637 p.L1879 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,superfamily_HECT,superfamily_ARM-type_fold,smart_HECT,pfscan_HECT,pfscan_WWE-dom - no_errors TRIP12 HGNC ENSG00000153827 129 0 0 96 77 44.5087 NMUR1 0 genome.wustl.edu 37 2 232393579 232393579 + Silent SNP G G A TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 2 232393579 232393579 G A SNP NMUR1 ENST00000305141 human ensembl 74_37 -1 known silent c.153 p.Y51 1.000 prints_NeuromedU_rcpt_1 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NeuromedU_rcpt_1,prints_NeuromedU_rcpt,prints_GPCR_Rhodpsn - no_errors NMUR1 HGNC ENSG00000171596 51 0 0 40 12 23.0769 KCNJ13 0 genome.wustl.edu 37 2 233635805 233635805 + Missense_Mutation SNP C C T TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 2 233635805 233635805 C T SNP KCNJ13 ENST00000233826 human ensembl 74_37 -1 known missense c.268 p.D90N 1.000 pfam_K_chnl_inward-rec_Kir,pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_KCNJ13,prints_K_chnl_inward-rec_Kir - no_errors KCNJ13 HGNC ENSG00000115474 135 0 0 140 19 11.9497 COL6A3 0 genome.wustl.edu 37 2 238285459 238285459 + Missense_Mutation SNP A A C TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 2 238285459 238285459 A C SNP COL6A3 ENST00000295550 human ensembl 74_37 -1 known missense c.3026 p.I1009R 0.983 smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL6A3 HGNC ENSG00000163359 243 0 0 266 32 10.7383 HDLBP 0 genome.wustl.edu 37 2 242181946 242181946 + Missense_Mutation SNP C C T TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 2 242181946 242181946 C T SNP HDLBP ENST00000310931 human ensembl 74_37 -1 known missense c.2098 p.V700I 0.992 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors HDLBP HGNC ENSG00000115677 47 0 0 33 18 35.2941 CXXC11 0 genome.wustl.edu 37 2 242815067 242815067 + Missense_Mutation SNP G G A TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 2 242815067 242815067 G A SNP CXXC11 ENST00000343216 human ensembl 74_37 +1 known missense c.1360 p.D454N 0.000 NULL NULL - no_errors CXXC11 HGNC ENSG00000188011 57 0 0 37 35 48.6111 CAD 0 genome.wustl.edu 37 2 27446503 27446503 + Silent SNP C C T TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 2 27446503 27446503 C T SNP CAD ENST00000264705 human ensembl 74_37 +1 known silent c.882 p.N294 1.000 pfam_GATASE,tigrfam_CarbamoylP_synth_ssu pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_Asp/Orn_carbamoyltranf_P-bd,pfam_GATASE,pfam_Asp_carbamoyltransf_Asp/Orn-bd,pfam_CarbamoylP_synth_lsu_oligo,pfam_CarbamoylP_synth_lsu_N,pfam_ATP-grasp_carboxylate-amine,pfam_MGS-like_dom,pfam_Dala_Dala_lig_C,pfam_Amidohydro_1,superfamily_Asp/Orn_carbamoylTrfase,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_dom,superfamily_MGS-like_dom,superfamily_Metal-dep_hydrolase_composite,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,prints_Asp_carbamoyltransf,prints_Asp/Orn_carbamoylTrfase,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu,tigrfam_Asp_carbamoyltransf - no_errors CAD HGNC ENSG00000084774 244 0 0 252 59 18.9711 SNX17 0 genome.wustl.edu 37 2 27597994 27597994 + Missense_Mutation SNP C C A TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 2 27597994 27597994 C A SNP SNX17 ENST00000233575 human ensembl 74_37 +1 known missense c.748 p.L250M 1.000 superfamily_FERM_central pfam_Phox,superfamily_Phox,superfamily_FERM_central,smart_Phox,pfscan_Phox,pfscan_Ras-assoc - no_errors SNX17 HGNC ENSG00000115234 60 0 0 31 36 53.7313 SLC8A1 0 genome.wustl.edu 37 2 40656585 40656585 + Missense_Mutation SNP T T C TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 2 40656585 40656585 T C SNP SLC8A1 ENST00000332839 human ensembl 74_37 -1 known missense c.836 p.E279G 1.000 tigrfam_Na_Ca_Ex pfam_NaCa_Exmemb,pfam_Calx_beta,smart_Calx_beta,pfscan_DnaJ_domain,prints_Na_Ca_Ex,prints_NaCa_exhngr1,tigrfam_Na_Ca_Ex - no_errors SLC8A1 HGNC ENSG00000183023 275 1 0.362319 286 82 22.2826 FOXN2 0 genome.wustl.edu 37 2 48602449 48602449 + Missense_Mutation SNP A A G TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 2 48602449 48602449 A G SNP FOXN2 ENST00000340553 human ensembl 74_37 +1 known missense c.1163 p.Q388R 0.254 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXN2 HGNC ENSG00000170802 19 0 0 14 22 61.1111 LHCGR 0 genome.wustl.edu 37 2 48915788 48915788 + Missense_Mutation SNP A A C TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 2 48915788 48915788 A C SNP LHCGR ENST00000294954 human ensembl 74_37 -1 known missense c.1148 p.V383G 0.994 pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_LSH_rcpt,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn,prints_TSH_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors LHCGR HGNC ENSG00000138039 69 0 0 60 16 21.0526 NRXN1 0 genome.wustl.edu 37 2 51255005 51255005 + Missense_Mutation SNP T T G TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 2 51255005 51255005 T G SNP NRXN1 ENST00000402717 human ensembl 74_37 -1 known missense c.407 p.K136T 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN1 HGNC ENSG00000179915 67 0 0 44 17 27.8689 FBXO48 0 genome.wustl.edu 37 2 68691388 68691388 + Missense_Mutation SNP C C A TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 2 68691388 68691388 C A SNP FBXO48 ENST00000377957 human ensembl 74_37 -1 known missense c.421 p.D141Y 1.000 NULL pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom - no_errors FBXO48 HGNC ENSG00000204923 201 0 0 159 102 39.0805 FBXO48 0 genome.wustl.edu 37 2 68691466 68691466 + Missense_Mutation SNP T T C TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 2 68691466 68691466 T C SNP FBXO48 ENST00000377957 human ensembl 74_37 -1 known missense c.343 p.K115E 1.000 superfamily_F-box_dom pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom - no_errors FBXO48 HGNC ENSG00000204923 123 0 0 90 53 37.0629 MPHOSPH10 0 genome.wustl.edu 37 2 71368364 71368364 + Silent SNP T T G TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 2 71368364 71368364 T G SNP MPHOSPH10 ENST00000244230 human ensembl 74_37 +1 known silent c.1311 p.A437 0.980 pfam_Mpp10,pirsf_snoRNP_Mpp10 pfam_Mpp10,pirsf_snoRNP_Mpp10 - no_errors MPHOSPH10 HGNC ENSG00000124383 90 0 0 94 27 22.314 DYSF 0 genome.wustl.edu 37 2 71901407 71901407 + Silent SNP C C T TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 2 71901407 71901407 C T SNP DYSF ENST00000413539 human ensembl 74_37 +1 known silent c.5841 p.F1947 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_dom,superfamily_MFS_dom_general_subst_transpt,smart_C2_dom,smart_Peroxin/Ferlin,pfscan_C2_dom - no_errors DYSF HGNC ENSG00000135636 76 0 0 57 20 25.974 PTCD3 0 genome.wustl.edu 37 2 86361965 86361965 + Nonsense_Mutation SNP C C T TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 2 86361965 86361965 C T SNP PTCD3 ENST00000254630 human ensembl 74_37 +1 known nonsense c.1633 p.Q545* 1.000 NULL NULL - no_errors PTCD3 HGNC ENSG00000132300 108 0 0 83 67 44.6667 KIF16B 0 genome.wustl.edu 37 20 16348445 16348445 + Silent SNP C C T TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 20 16348445 16348445 C T SNP KIF16B ENST00000408042 human ensembl 74_37 -1 known silent c.3525 p.L1175 0.002 NULL pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIF16B HGNC ENSG00000089177 28 0 0 35 7 16.6667 PCSK2 0 genome.wustl.edu 37 20 17389911 17389911 + Missense_Mutation SNP G G T TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 20 17389911 17389911 G T SNP PCSK2 ENST00000262545 human ensembl 74_37 +1 known missense c.547 p.A183S 1.000 pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK2 HGNC ENSG00000125851 137 0 0 221 39 15 RRBP1 0 genome.wustl.edu 37 20 17606216 17606216 + Silent SNP G G A TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 20 17606216 17606216 G A SNP RRBP1 ENST00000246043 human ensembl 74_37 -1 known silent c.2995 p.L999 0.660 NULL pfam_Rib_rcpt_KP,superfamily_Ribosome_recyc_fac_dom - no_errors RRBP1 HGNC ENSG00000125844 147 0 0 194 21 9.76744 DZANK1 0 genome.wustl.edu 37 20 18432537 18432537 + Silent SNP C C T TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 20 18432537 18432537 C T SNP DZANK1 ENST00000357236 human ensembl 74_37 -1 known silent c.162 p.K54 0.001 NULL superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom - no_errors DZANK1 HGNC ENSG00000089091 70 0 0 74 38 33.9286 C20orf26 0 genome.wustl.edu 37 20 20150036 20150036 + Missense_Mutation SNP A A C TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 20 20150036 20150036 A C SNP C20orf26 ENST00000245957 human ensembl 74_37 +1 known missense c.1317 p.K439N 0.370 NULL superfamily_Acyl_CoA_acyltransferase - no_errors C20orf26 HGNC ENSG00000089101 85 0 0 136 27 16.5644 CST8 0 genome.wustl.edu 37 20 23472508 23472508 + Silent SNP G G T TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 20 23472508 23472508 G T SNP CST8 ENST00000246012 human ensembl 74_37 +1 known silent c.204 p.V68 0.017 pfam_Prot_inh_cystat,smart_Prot_inh_cystat pfam_Prot_inh_cystat,smart_Prot_inh_cystat - no_errors CST8 HGNC ENSG00000125815 88 0 0 108 22 16.9231 DEFB119 0 genome.wustl.edu 37 20 29976843 29976843 + Missense_Mutation SNP A A T TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 20 29976843 29976843 A T SNP DEFB119 ENST00000376315 human ensembl 74_37 -1 known missense c.252 p.N84K 0.041 NULL superfamily_Scorpion_toxin-like - no_errors DEFB119 HGNC ENSG00000180483 49 0 0 58 7 10.7692 DNMT3B 0 genome.wustl.edu 37 20 31388715 31388715 + Silent SNP C C T TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 20 31388715 31388715 C T SNP DNMT3B ENST00000328111 human ensembl 74_37 +1 known silent c.1980 p.A660 0.999 pfam_C5_MeTfrase pfam_PWWP_dom,pfam_C5_MeTfrase,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,pfscan_PWWP_dom - no_errors DNMT3B HGNC ENSG00000088305 117 0 0 183 37 16.8182 BPIFB6 0 genome.wustl.edu 37 20 31627289 31627289 + Missense_Mutation SNP G G A TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 20 31627289 31627289 G A SNP BPIFB6 ENST00000349552 human ensembl 74_37 +1 known missense c.1037 p.R346Q 0.000 pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C - no_errors BPIFB6 HGNC ENSG00000167104 107 1 0.925926 98 50 33.7838 SAMHD1 0 genome.wustl.edu 37 20 35526364 35526364 + Splice_Site SNP T T A TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 20 35526364 35526364 T A SNP SAMHD1 ENST00000262878 human ensembl 74_37 -1 known splice_site c.1609-2 e15-2 0.996 - - - no_errors SAMHD1 HGNC ENSG00000101347 95 0 0 114 62 35.2273 KIAA1755 0 genome.wustl.edu 37 20 36870039 36870039 + Missense_Mutation SNP C C A TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 20 36870039 36870039 C A SNP KIAA1755 ENST00000279024 human ensembl 74_37 -1 known missense c.494 p.C165F 1.000 NULL superfamily_CRAL-TRIO_dom - no_errors KIAA1755 HGNC ENSG00000149633 103 0 0 163 33 16.8367 PTPRT 0 genome.wustl.edu 37 20 40713354 40713354 + Silent SNP G G A TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 20 40713354 40713354 G A SNP PTPRT ENST00000373198 human ensembl 74_37 -1 known silent c.4161 p.D1387 0.815 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRT HGNC ENSG00000196090 57 0 0 64 18 21.9512 SEMG1 0 genome.wustl.edu 37 20 43837264 43837264 + Missense_Mutation SNP A A C TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 20 43837264 43837264 A C SNP SEMG1 ENST00000372781 human ensembl 74_37 +1 known missense c.1326 p.E442D 0.000 pfam_Semenogelin pfam_Semenogelin - no_errors SEMG1 HGNC ENSG00000124233 185 0 0 227 121 34.7701 SALL4 0 genome.wustl.edu 37 20 50406883 50406883 + Silent SNP G G A TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 20 50406883 50406883 G A SNP SALL4 ENST00000217086 human ensembl 74_37 -1 known silent c.2139 p.P713 0.002 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL4 HGNC ENSG00000101115 45 0 0 67 28 29.4737 CYP24A1 0 genome.wustl.edu 37 20 52786173 52786173 + Missense_Mutation SNP C C G TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 20 52786173 52786173 C G SNP CYP24A1 ENST00000216862 human ensembl 74_37 -1 known missense c.598 p.V200L 0.995 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_CYP24A_mit pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_CYP24A_mit,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450 - no_errors CYP24A1 HGNC ENSG00000019186 74 0 0 125 32 20.3822 EDN3 0 genome.wustl.edu 37 20 57896115 57896115 + Missense_Mutation SNP C C T TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 20 57896115 57896115 C T SNP EDN3 ENST00000337938 human ensembl 74_37 +1 known missense c.409 p.R137W 0.867 NULL pfam_Endothln-like_toxin,smart_Endothln-like_toxin,prints_Bibrotoxin/Sarafotoxin-D - no_errors EDN3 HGNC ENSG00000124205 86 0 0 127 17 11.8056 SYCP2 0 genome.wustl.edu 37 20 58475227 58475227 + Missense_Mutation SNP C C A TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 20 58475227 58475227 C A SNP SYCP2 ENST00000357552 human ensembl 74_37 -1 known missense c.1370 p.S457I 0.006 NULL NULL - no_errors SYCP2 HGNC ENSG00000196074 74 0 0 131 15 10.274 COL9A3 0 genome.wustl.edu 37 20 61467870 61467870 + Missense_Mutation SNP G G T TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 20 61467870 61467870 G T SNP COL9A3 ENST00000343916 human ensembl 74_37 +1 known missense c.1589 p.G530V 0.999 NULL pfam_Collagen - no_errors COL9A3 HGNC ENSG00000092758 21 0 0 28 3 9.67742 SLC17A9 0 genome.wustl.edu 37 20 61598822 61598822 + Silent SNP G G C TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 20 61598822 61598822 G C SNP SLC17A9 ENST00000370351 human ensembl 74_37 +1 known silent c.1281 p.V427 1.000 NULL pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A9 HGNC ENSG00000101194 129 0 0 168 32 16 PLCB1 0 genome.wustl.edu 37 20 8709793 8709793 + Missense_Mutation SNP G G T TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 20 8709793 8709793 G T SNP PLCB1 ENST00000338037 human ensembl 74_37 +1 known missense c.1860 p.Q620H 1.000 pirsf_PLC-beta,pfam_PLipase_C_Pinositol-sp_Y,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C,pfscan_PLipase_C_Pinositol-sp_Y pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB1 HGNC ENSG00000182621 97 0 0 166 41 19.8068 DYRK1A 0 genome.wustl.edu 37 21 38865409 38865409 + Missense_Mutation SNP G G C TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 21 38865409 38865409 G C SNP DYRK1A ENST00000398960 human ensembl 74_37 +1 known missense c.1042 p.G348R 1.000 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 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 DYRK1A HGNC ENSG00000157540 123 0 0 42 31 42.4658 TBX1 0 genome.wustl.edu 37 22 19770491 19770491 + Missense_Mutation SNP G G T TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 22 19770491 19770491 G T SNP TBX1 ENST00000359500 human ensembl 74_37 +1 known missense c.1065 p.K355N 0.002 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,prints_TF_T-box,pfscan_TF_T-box - no_errors TBX1 HGNC ENSG00000184058 140 0 0 81 92 53.1792 TRMT2A 0 genome.wustl.edu 37 22 20100088 20100088 + Nonstop_Mutation SNP A A C TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 22 20100088 20100088 A C SNP TRMT2A ENST00000252136 human ensembl 74_37 -1 known nonstop c.1876 p.*626E 0.001 NULL pfam_U5_MeTrfase,pfam_PCMT,pfam_Small_mtfrase_dom,pfam_RNA_methylase_dom,pfam_RNA_MeTrfase_RsmD,pfam_Methyltransf_11,pfam_tRNA_(Gua-N-7)_MeTrfase,pfam_UbiE/COQ5_MeTrFase,pfscan_RRM_dom - no_errors TRMT2A HGNC ENSG00000099899 29 0 0 16 11 40.7407 RAB36 0 genome.wustl.edu 37 22 23488843 23488843 + Missense_Mutation SNP C C T TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 22 23488843 23488843 C T SNP RAB36 ENST00000263116 human ensembl 74_37 +1 known missense c.238 p.R80C 1.000 NULL pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB36 HGNC ENSG00000100228 71 0 0 62 10 13.8889 POM121L9P 0 genome.wustl.edu 37 22 24656895 24656895 + RNA SNP C C A TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 22 24656895 24656895 C A SNP POM121L9P ENST00000414583 human ensembl 74_37 +1 known rna NULL NULL 0.009 - - - no_errors POM121L9P HGNC ENSG00000128262 22 0 0 23 4 14.8148 SGSM1 0 genome.wustl.edu 37 22 25320202 25320202 + Silent SNP C C T TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 22 25320202 25320202 C T SNP SGSM1 ENST00000400359 human ensembl 74_37 +1 known silent c.3408 p.D1136 1.000 superfamily_Rab-GTPase-TBC_dom pfam_Run,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Run,smart_Rab-GTPase-TBC_dom,pfscan_Run,pfscan_Rab-GTPase-TBC_dom - no_errors SGSM1 HGNC ENSG00000167037 54 0 0 55 10 15.3846 CRYBB1 0 genome.wustl.edu 37 22 26995587 26995587 + Missense_Mutation SNP T T C TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 22 26995587 26995587 T C SNP CRYBB1 ENST00000215939 human ensembl 74_37 -1 known missense c.626 p.E209G 1.000 pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYBB1 HGNC ENSG00000100122 63 0 0 48 12 20 TCN2 0 genome.wustl.edu 37 22 31010467 31010467 + Missense_Mutation SNP C C T TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 22 31010467 31010467 C T SNP TCN2 ENST00000215838 human ensembl 74_37 +1 known missense c.559 p.H187Y 0.000 pfam_Cbl-bd_transpt_euk,superfamily_Terpenoid_cyclase/PrenylTrfase pfam_Cbl-bd_transpt_euk,superfamily_Terpenoid_cyclase/PrenylTrfase - no_errors TCN2 HGNC ENSG00000185339 60 0 0 46 8 14.8148 APOL5 0 genome.wustl.edu 37 22 36123079 36123079 + Missense_Mutation SNP A A T TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 22 36123079 36123079 A T SNP APOL5 ENST00000249044 human ensembl 74_37 +1 known missense c.964 p.R322W 0.000 pfam_ApoL pfam_ApoL - no_errors APOL5 HGNC ENSG00000128313 45 0 0 25 9 26.4706 CSF2RB 0 genome.wustl.edu 37 22 37322200 37322200 + Silent SNP C C T TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 22 37322200 37322200 C T SNP CSF2RB ENST00000262825 human ensembl 74_37 +1 known silent c.372 p.T124 0.000 pirsf_IL3_rcpt_beta,superfamily_Fibronectin_type3 pirsf_IL3_rcpt_beta,pfam_Fibronectin_type3,pfam_IL-6_rcpt_alpha-bd,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors CSF2RB HGNC ENSG00000100368 79 0 0 56 14 20 CACNA1I 0 genome.wustl.edu 37 22 40037134 40037134 + Nonsense_Mutation SNP A A T TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 22 40037134 40037134 A T SNP CACNA1I ENST00000336649 human ensembl 74_37 +1 known nonsense c.1003 p.K335* 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1 - no_errors CACNA1I HGNC ENSG00000100346 84 0 0 58 49 45.7944 CACNA1I 0 genome.wustl.edu 37 22 40066108 40066108 + Missense_Mutation SNP C C A TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 22 40066108 40066108 C A SNP CACNA1I ENST00000336649 human ensembl 74_37 +1 known missense c.4278 p.F1426L 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1 - no_errors CACNA1I HGNC ENSG00000100346 272 0 0 248 82 24.8485 TTLL8 0 genome.wustl.edu 37 22 50488550 50488550 + Missense_Mutation SNP C C T TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 22 50488550 50488550 C T SNP TTLL8 ENST00000266182 human ensembl 74_37 -1 known missense c.178 p.A60T 0.001 NULL pfam_TTL/TTLL_fam - no_errors TTLL8 HGNC ENSG00000138892 25 0 0 23 3 11.5385 CD200 0 genome.wustl.edu 37 3 112063822 112063822 + Silent SNP C C G TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 3 112063822 112063822 C G SNP CD200 ENST00000473539 human ensembl 74_37 +1 known silent c.183 p.T61 0.998 smart_Ig_sub,pfscan_Ig-like_dom pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors CD200 HGNC ENSG00000091972 66 0 0 45 16 26.2295 DRD3 0 genome.wustl.edu 37 3 113858501 113858501 + Missense_Mutation SNP A A T TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 3 113858501 113858501 A T SNP DRD3 ENST00000383673 human ensembl 74_37 -1 known missense c.569 p.I190N 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Dopamine_D3_rcpt,prints_GPCR_Rhodpsn,prints_Dopamine_rcpt - no_errors DRD3 HGNC ENSG00000151577 126 0 0 93 14 13.0841 PARP14 0 genome.wustl.edu 37 3 122420095 122420095 + Missense_Mutation SNP G G C TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 3 122420095 122420095 G C SNP PARP14 ENST00000474629 human ensembl 74_37 +1 known missense c.2694 p.R898S 0.001 pfam_Macro_dom,smart_Macro_dom,pfscan_Macro_dom pfam_Macro_dom,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_WWE-dom,smart_Macro_dom,pfscan_Macro_dom,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP14 HGNC ENSG00000173193 21 0 0 19 7 26.9231 CNTN6 0 genome.wustl.edu 37 3 1339586 1339586 + Missense_Mutation SNP A A T TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 3 1339586 1339586 A T SNP CNTN6 ENST00000350110 human ensembl 74_37 +1 known missense c.672 p.E224D 0.969 NULL 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 CNTN6 HGNC ENSG00000134115 106 0 0 72 32 30.7692 SKIL 0 genome.wustl.edu 37 3 170110195 170110195 + Missense_Mutation SNP C C G TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 3 170110195 170110195 C G SNP SKIL ENST00000259119 human ensembl 74_37 +1 known missense c.2045 p.A682G 0.990 NULL pfam_c-SKI_SMAD4-bd_dom,pfam_Transform_Ski,superfamily_SAND_dom-like,superfamily_DNA-bd_dom_put - no_errors SKIL HGNC ENSG00000136603 62 0 0 19 31 62 NLGN1 0 genome.wustl.edu 37 3 173998882 173998882 + Missense_Mutation SNP T T G TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 3 173998882 173998882 T G SNP NLGN1 ENST00000401917 human ensembl 74_37 +1 known missense c.2381 p.L794R 1.000 NULL pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN1 HGNC ENSG00000169760 110 0 0 30 53 63.8554 PARL 0 genome.wustl.edu 37 3 183602604 183602604 + Missense_Mutation SNP A A G TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 3 183602604 183602604 A G SNP PARL ENST00000317096 human ensembl 74_37 -1 known missense c.31 p.W11R 1.000 NULL pfam_Peptidase_S54_rhomboid_dom - no_errors PARL HGNC ENSG00000175193 29 0 0 11 8 42.1053 CEP19 0 genome.wustl.edu 37 3 196434546 196434546 + Missense_Mutation SNP A A C TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 3 196434546 196434546 A C SNP CEP19 ENST00000409690 human ensembl 74_37 -1 known missense c.380 p.L127R 1.000 NULL NULL - no_errors CEP19 HGNC ENSG00000174007 80 0 0 75 23 23.4694 RARB 0 genome.wustl.edu 37 3 25611286 25611286 + Silent SNP T T G TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 3 25611286 25611286 T G SNP RARB ENST00000404969 human ensembl 74_37 +1 known silent c.507 p.T169 0.998 superfamily_Nucl_hormone_rcpt_ligand-bd,prints_Retinoid-X_rcpt/HNF4 pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Nuc_orph_rcpt,prints_Retinoid-X_rcpt/HNF4 - no_errors RARB HGNC ENSG00000077092 42 0 0 27 17 38.6364 EOMES 0 genome.wustl.edu 37 3 27759208 27759208 + Missense_Mutation SNP C C T TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 3 27759208 27759208 C T SNP EOMES ENST00000449599 human ensembl 74_37 -1 known missense c.1471 p.V491I 1.000 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors EOMES HGNC ENSG00000163508 94 0 0 24 37 60.6557 ZNF197 0 genome.wustl.edu 37 3 44672628 44672628 + Silent SNP A A T TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 3 44672628 44672628 A T SNP ZNF197 ENST00000344387 human ensembl 74_37 +1 known silent c.465 p.V155 0.000 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF197 HGNC ENSG00000186448 75 0 0 25 47 65.2778 CCR9 0 genome.wustl.edu 37 3 45942859 45942859 + Silent SNP C C T TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 3 45942859 45942859 C T SNP CCR9 ENST00000357632 human ensembl 74_37 +1 known silent c.579 p.S193 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCR7 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Chemokine_CCR9,prints_Chemokine_rcpt,prints_Chemokine_CCR7,prints_ATII_rcpt,prints_Chemokine_CCRL1,prints_Chemokine_CXCR4 - no_errors CCR9 HGNC ENSG00000173585 73 0 0 25 35 58.3333 SEMA3F 0 genome.wustl.edu 37 3 50211510 50211510 + Missense_Mutation SNP G G A TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 3 50211510 50211510 G A SNP SEMA3F ENST00000002829 human ensembl 74_37 +1 known missense c.299 p.R100H 1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,smart_Ig_sub2,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA3F HGNC ENSG00000001617 68 0 0 21 43 67.1875 DNAH1 0 genome.wustl.edu 37 3 52434400 52434400 + Missense_Mutation SNP C C T TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 3 52434400 52434400 C T SNP DNAH1 ENST00000420323 human ensembl 74_37 +1 known missense c.12736 p.H4246Y 0.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase - no_errors DNAH1 HGNC ENSG00000114841 178 0 0 112 41 26.7974 ITIH1 0 genome.wustl.edu 37 3 52820319 52820319 + Missense_Mutation SNP A A T TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 3 52820319 52820319 A T SNP ITIH1 ENST00000273283 human ensembl 74_37 +1 known missense c.1602 p.Q534H 0.995 NULL pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,superfamily_PsdUridine_synth_cat_dom,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH1 HGNC ENSG00000055957 10 0 0 1 2 66.6667 CADM2 0 genome.wustl.edu 37 3 85932479 85932479 + Missense_Mutation SNP T T A TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 3 85932479 85932479 T A SNP CADM2 ENST00000405615 human ensembl 74_37 +1 known missense c.256 p.W86R 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_C1-set,smart_Ig_sub,smart_Ig_sub2,smart_Neurexin-like,pfscan_Ig-like_dom - no_errors CADM2 HGNC ENSG00000175161 42 0 0 17 20 54.0541 SETD5 0 genome.wustl.edu 37 3 9517681 9517681 + Missense_Mutation SNP A A G TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 3 9517681 9517681 A G SNP SETD5 ENST00000402198 human ensembl 74_37 +1 known missense c.4235 p.Q1412R 1.000 NULL pfam_SET_dom,smart_SET_dom,pfscan_SET_dom - no_errors SETD5 HGNC ENSG00000168137 47 0 0 29 10 25.641 DAPP1 0 genome.wustl.edu 37 4 100756882 100756882 + Silent SNP G G C TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 4 100756882 100756882 G C SNP DAPP1 ENST00000512369 human ensembl 74_37 +1 known silent c.204 p.G68 0.019 pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 pfam_SH2,pfam_Pleckstrin_homology,smart_SH2,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH2,prints_SH2 - no_errors DAPP1 HGNC ENSG00000070190 68 0 0 21 20 48.7805 MMAA 0 genome.wustl.edu 37 4 146575206 146575206 + Missense_Mutation SNP G G A TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 4 146575206 146575206 G A SNP MMAA ENST00000281317 human ensembl 74_37 +1 known missense c.880 p.D294N 1.000 pfam_ArgK,superfamily_P-loop_NTPase,tigrfam_ArgK pfam_ArgK,pfam_CobW/HypB/UreG_dom,superfamily_P-loop_NTPase,tigrfam_ArgK - no_errors MMAA HGNC ENSG00000151611 156 0 0 123 43 25.9036 GLRB 0 genome.wustl.edu 37 4 158057967 158057967 + Missense_Mutation SNP C C T TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 4 158057967 158057967 C T SNP GLRB ENST00000264428 human ensembl 74_37 +1 known missense c.539 p.T180I 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Glycine_rcpt_B,prints_GABAA_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GLRB HGNC ENSG00000109738 71 0 0 62 15 19.4805 FSTL5 0 genome.wustl.edu 37 4 162508606 162508606 + Splice_Site SNP C C T TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 4 162508606 162508606 C T SNP FSTL5 ENST00000306100 human ensembl 74_37 -1 known splice_site c.1015+1 e7+1 1.000 - - - no_errors FSTL5 HGNC ENSG00000168843 108 0 0 67 31 31.6327 CEP44 0 genome.wustl.edu 37 4 175220298 175220298 + Missense_Mutation SNP G G A TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 4 175220298 175220298 G A SNP CEP44 ENST00000426172 human ensembl 74_37 +1 known missense c.26 p.S9N 1.000 NULL NULL - no_errors CEP44 HGNC ENSG00000164118 77 0 0 27 34 55.7377 PDE6B 0 genome.wustl.edu 37 4 657980 657980 + Missense_Mutation SNP C C T TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 4 657980 657980 C T SNP PDE6B ENST00000496514 human ensembl 74_37 +1 known missense c.2099 p.S700F 0.997 pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE6B HGNC ENSG00000133256 71 0 0 24 51 68 UGT2B28 0 genome.wustl.edu 37 4 70156402 70156402 + Missense_Mutation SNP T T A TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 4 70156402 70156402 T A SNP UGT2B28 ENST00000335568 human ensembl 74_37 +1 known missense c.1183 p.L395M 0.231 pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2B28 HGNC ENSG00000135226 144 0 0 98 58 37.1795 SLC4A4 0 genome.wustl.edu 37 4 72319339 72319339 + Missense_Mutation SNP G G A TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 4 72319339 72319339 G A SNP SLC4A4 ENST00000425175 human ensembl 74_37 +1 known missense c.1450 p.A484T 1.000 pfam_HCO3_transpt_C,prints_HCO3_transpt_euk,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk - no_errors SLC4A4 HGNC ENSG00000080493 137 0 0 90 41 31.2977 ADAMTS3 0 genome.wustl.edu 37 4 73185183 73185183 + Missense_Mutation SNP C C A TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 4 73185183 73185183 C A SNP ADAMTS3 ENST00000286657 human ensembl 74_37 -1 known missense c.1218 p.M406I 1.000 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B - no_errors ADAMTS3 HGNC ENSG00000156140 42 0 0 27 9 25 SORCS2 0 genome.wustl.edu 37 4 7640122 7640122 + Missense_Mutation SNP C C A TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 4 7640122 7640122 C A SNP SORCS2 ENST00000507866 human ensembl 74_37 +1 known missense c.716 p.A239D 0.868 smart_VPS10 pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,smart_PKD/Chitinase_dom,pfscan_PKD_dom - no_errors SORCS2 HGNC ENSG00000184985 57 0 0 95 13 12.037 CPZ 0 genome.wustl.edu 37 4 8620178 8620178 + Missense_Mutation SNP T T C TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 4 8620178 8620178 T C SNP CPZ ENST00000360986 human ensembl 74_37 +1 known missense c.1526 p.V509A 0.495 superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14 pfam_Peptidase_M14,pfam_Frizzled_dom,superfamily_Frizzled_dom,superfamily_CarboxyPept-like_regulatory,smart_Frizzled_dom,smart_Peptidase_M14,prints_Peptidase_M14,pfscan_Frizzled_dom - no_errors CPZ HGNC ENSG00000109625 60 0 0 30 52 63.4146 APC 0 genome.wustl.edu 37 5 112174602 112174602 + Nonsense_Mutation SNP C C A TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 5 112174602 112174602 C A SNP APC ENST00000257430 human ensembl 74_37 +1 known nonsense c.3311 p.S1104* 1.000 NULL pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors APC HGNC ENSG00000134982 106 0 0 31 56 64.3678 ZNF608 0 genome.wustl.edu 37 5 123983911 123983911 + Missense_Mutation SNP G G T TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 5 123983911 123983911 G T SNP ZNF608 ENST00000306315 human ensembl 74_37 -1 known missense c.2166 p.N722K 0.964 NULL NULL - no_errors ZNF608 HGNC ENSG00000168916 35 0 0 19 9 32.1429 IRF1 0 genome.wustl.edu 37 5 131822029 131822029 + Missense_Mutation SNP T T A TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 5 131822029 131822029 T A SNP IRF1 ENST00000245414 human ensembl 74_37 -1 known missense c.581 p.D194V 0.724 pirsf_Interferon_reg_fac-1/2 pfam_Interferon_reg_fact_DNA-bd_dom,smart_Interferon_reg_fact_DNA-bd_dom,pirsf_Interferon_reg_fac-1/2,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF1 HGNC ENSG00000125347 101 0 0 53 25 32.0513 PCDH1 0 genome.wustl.edu 37 5 141243652 141243652 + Silent SNP G G T TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 5 141243652 141243652 G T SNP PCDH1 ENST00000287008 human ensembl 74_37 -1 known silent c.2244 p.V748 0.996 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH1 HGNC ENSG00000156453 36 0 0 9 26 74.2857 TENM2 0 genome.wustl.edu 37 5 167545399 167545399 + Missense_Mutation SNP A A T TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 5 167545399 167545399 A T SNP TENM2 ENST00000518659 human ensembl 74_37 +1 known missense c.1916 p.Q639L 1.000 smart_EG-like_dom,pfscan_EG-like_dom pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf,superfamily_Cytokine_IL1-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM2 HGNC ENSG00000145934 247 0 0 77 121 61.1111 CDHR2 0 genome.wustl.edu 37 5 176016370 176016370 + Nonsense_Mutation SNP C C A TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 5 176016370 176016370 C A SNP CDHR2 ENST00000261944 human ensembl 74_37 +1 known nonsense c.3048 p.Y1016* 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDHR2 HGNC ENSG00000074276 219 0 0 113 39 25.6579 PDLIM7 0 genome.wustl.edu 37 5 176919612 176919612 + Missense_Mutation SNP C C T TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 5 176919612 176919612 C T SNP PDLIM7 ENST00000355841 human ensembl 74_37 -1 known missense c.163 p.G55S 0.991 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_Znf_LIM,pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ - no_errors PDLIM7 HGNC ENSG00000196923 82 0 0 19 40 67.7966 MAPK9 0 genome.wustl.edu 37 5 179663398 179663398 + Missense_Mutation SNP C C T TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 5 179663398 179663398 C T SNP MAPK9 ENST00000452135 human ensembl 74_37 -1 known missense c.1261 p.E421K 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_MAPK_JNK - no_errors MAPK9 HGNC ENSG00000050748 50 0 0 27 12 30.7692 PRDM9 0 genome.wustl.edu 37 5 23509701 23509701 + Silent SNP A A T TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 5 23509701 23509701 A T SNP PRDM9 ENST00000296682 human ensembl 74_37 +1 known silent c.192 p.I64 0.766 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel pfam_Znf_C2H2,pfam_SSXRD_motif,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors PRDM9 HGNC ENSG00000164256 78 0 0 68 42 38.1818 IL7R 0 genome.wustl.edu 37 5 35857145 35857145 + Missense_Mutation SNP T T A TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 5 35857145 35857145 T A SNP IL7R ENST00000303115 human ensembl 74_37 +1 known missense c.66 p.S22R 1.000 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3 - no_errors IL7R HGNC ENSG00000168685 145 0 0 122 66 35.1064 C6 0 genome.wustl.edu 37 5 41149516 41149516 + Missense_Mutation SNP T T G TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 5 41149516 41149516 T G SNP C6 ENST00000263413 human ensembl 74_37 -1 known missense c.2450 p.K817T 0.180 pfam_Kazal_dom,smart_FacI_MAC pfam_MACPF,pfam_Sushi_SCR_CCP,pfam_Thrombospondin_1_rpt,pfam_LDrepeatLR_classA_rpt,pfam_Kazal_dom,superfamily_Sushi_SCR_CCP,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,smart_Sushi_SCR_CCP,smart_FacI_MAC,prints_MAC_perforin,pfscan_LDrepeatLR_classA_rpt,pfscan_Sushi_SCR_CCP,pfscan_Thrombospondin_1_rpt - no_errors C6 HGNC ENSG00000039537 136 0 0 158 93 37.0518 ISL1 0 genome.wustl.edu 37 5 50685698 50685698 + Missense_Mutation SNP C C T TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 5 50685698 50685698 C T SNP ISL1 ENST00000230658 human ensembl 74_37 +1 known missense c.697 p.R233W 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom - no_errors ISL1 HGNC ENSG00000016082 36 0 0 43 3 6.52174 SLC38A9 0 genome.wustl.edu 37 5 54968437 54968437 + Missense_Mutation SNP C C G TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 5 54968437 54968437 C G SNP SLC38A9 ENST00000318672 human ensembl 74_37 -1 known missense c.200 p.R67T 1.000 NULL pfam_AA_transpt_TM - no_errors SLC38A9 HGNC ENSG00000177058 94 0 0 40 54 57.4468 RASGRF2 0 genome.wustl.edu 37 5 80381675 80381675 + Missense_Mutation SNP C C T TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 5 80381675 80381675 C T SNP RASGRF2 ENST00000265080 human ensembl 74_37 +1 known missense c.1216 p.H406Y 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGRF2 HGNC ENSG00000113319 96 0 0 42 52 55.3191 GPR98 0 genome.wustl.edu 37 5 89948276 89948276 + Missense_Mutation SNP A A C TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 5 89948276 89948276 A C SNP GPR98 ENST00000405460 human ensembl 74_37 +1 known missense c.3530 p.N1177T 0.000 NULL pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC ENSG00000164199 59 0 0 20 44 68.75 HDAC2 0 genome.wustl.edu 37 6 114274551 114274551 + Missense_Mutation SNP C C T TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 6 114274551 114274551 C T SNP HDAC2 ENST00000398283 human ensembl 74_37 -1 known missense c.811 p.D271N 1.000 pfam_His_deacetylse_dom,prints_His_deacetylse pfam_His_deacetylse_dom,prints_His_deacetylse_1,prints_His_deacetylse - no_errors HDAC2 HGNC ENSG00000196591 73 0 0 56 35 38.4615 TSPYL1 0 genome.wustl.edu 37 6 116599805 116599805 + Nonsense_Mutation SNP T T A TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 6 116599805 116599805 T A SNP TSPYL1 ENST00000368608 human ensembl 74_37 -1 known nonsense c.1189 p.K397* 1.000 pfam_NAP_family pfam_NAP_family - no_errors TSPYL1 HGNC ENSG00000189241 48 0 0 47 16 25.3968 KPNA5 0 genome.wustl.edu 37 6 117013488 117013488 + Missense_Mutation SNP G G A TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 6 117013488 117013488 G A SNP KPNA5 ENST00000356348 human ensembl 74_37 +1 known missense c.273 p.M91I 1.000 pfam_Importin-a_IBB,superfamily_ARM-type_fold pfam_Armadillo,pfam_Importin-a_IBB,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB - no_errors KPNA5 HGNC ENSG00000196911 63 0 0 93 7 7 ADTRP 0 genome.wustl.edu 37 6 11723593 11723593 + Missense_Mutation SNP T T G TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 6 11723593 11723593 T G SNP ADTRP ENST00000379413 human ensembl 74_37 -1 known missense c.647 p.H216P 1.000 pfam_Far-17a_AIG1 pfam_Far-17a_AIG1 - no_errors ADTRP HGNC ENSG00000111863 186 0 0 141 26 15.5689 HIVEP1 0 genome.wustl.edu 37 6 12121047 12121047 + Missense_Mutation SNP C C G TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 6 12121047 12121047 C G SNP HIVEP1 ENST00000379388 human ensembl 74_37 +1 known missense c.1019 p.S340C 0.925 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP1 HGNC ENSG00000095951 164 0 0 164 44 21.1538 NCOA7 0 genome.wustl.edu 37 6 126249876 126249876 + Missense_Mutation SNP G G C TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 6 126249876 126249876 G C SNP NCOA7 ENST00000368357 human ensembl 74_37 +1 known missense c.2788 p.D930H 1.000 pfam_TLDc,smart_TLDc pfam_TLDc,pfam_LysM_dom,pfam_GRAM,smart_LysM_dom,smart_TLDc - no_errors NCOA7 HGNC ENSG00000111912 72 0 0 67 22 24.7191 LAMA2 0 genome.wustl.edu 37 6 129781441 129781441 + Missense_Mutation SNP G G A TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 6 129781441 129781441 G A SNP LAMA2 ENST00000421865 human ensembl 74_37 +1 known missense c.6964 p.E2322K 1.000 superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA2 HGNC ENSG00000196569 79 0 0 52 35 40.2299 ARHGAP18 0 genome.wustl.edu 37 6 129921797 129921797 + Missense_Mutation SNP A A C TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 6 129921797 129921797 A C SNP ARHGAP18 ENST00000368149 human ensembl 74_37 -1 known missense c.1562 p.L521R 1.000 superfamily_Rho_GTPase_activation_prot,pfscan_RhoGAP_dom pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP18 HGNC ENSG00000146376 57 0 0 61 13 17.5676 TBC1D7 0 genome.wustl.edu 37 6 13321205 13321205 + Nonsense_Mutation SNP C C A TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 6 13321205 13321205 C A SNP TBC1D7 ENST00000356436 human ensembl 74_37 -1 known nonsense c.316 p.E106* 0.987 superfamily_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D7 HGNC ENSG00000145979 205 0 0 183 51 21.7949 PEX3 0 genome.wustl.edu 37 6 143800222 143800222 + Missense_Mutation SNP T T G TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 6 143800222 143800222 T G SNP PEX3 ENST00000367591 human ensembl 74_37 +1 known missense c.828 p.F276L 1.000 pfam_Peroxin-3 pfam_Peroxin-3 - no_errors PEX3 HGNC ENSG00000034693 53 0 0 57 13 18.5714 TAB2 0 genome.wustl.edu 37 6 149700628 149700628 + Missense_Mutation SNP G G A TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 6 149700628 149700628 G A SNP TAB2 ENST00000286332 human ensembl 74_37 +1 known missense c.1577 p.G526E 1.000 NULL pfam_CUE,pfam_Znf_RanBP2,smart_CUE,smart_Znf_RanBP2,pfscan_CUE,pfscan_Znf_RanBP2 - no_errors TAB2 HGNC ENSG00000055208 129 0 0 124 10 7.46269 SCAF8 0 genome.wustl.edu 37 6 155154200 155154200 + Missense_Mutation SNP G G T TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 6 155154200 155154200 G T SNP SCAF8 ENST00000367186 human ensembl 74_37 +1 known missense c.3685 p.D1229Y 1.000 NULL pfam_RNA_pol_II-bd,pfam_RRM_dom,superfamily_ENTH_VHS,smart_CID_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SCAF8 HGNC ENSG00000213079 75 0 0 66 14 17.5 SYNJ2 0 genome.wustl.edu 37 6 158484821 158484821 + Splice_Site SNP A A C TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 6 158484821 158484821 A C SNP SYNJ2 ENST00000355585 human ensembl 74_37 +1 known splice_site c.1128-2 e9-2 1.000 - - - no_errors SYNJ2 HGNC ENSG00000078269 106 0 0 67 68 50.3704 IGF2R 0 genome.wustl.edu 37 6 160453727 160453727 + Missense_Mutation SNP C C T TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 6 160453727 160453727 C T SNP IGF2R ENST00000356956 human ensembl 74_37 +1 known missense c.1027 p.P343S 0.975 pfam_CIMR,superfamily_Man6P_isomerase_rcpt-bd_dom pfam_CIMR,pfam_FN_type2_col-bd,superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd - no_errors IGF2R HGNC ENSG00000197081 105 0 0 89 22 19.8198 SLC22A3 0 genome.wustl.edu 37 6 160863900 160863900 + Nonsense_Mutation SNP C C T TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 6 160863900 160863900 C T SNP SLC22A3 ENST00000392145 human ensembl 74_37 +1 known nonsense c.1399 p.R467* 1.000 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp - no_errors SLC22A3 HGNC ENSG00000146477 47 0 0 40 11 21.5686 PDE10A 0 genome.wustl.edu 37 6 165956946 165956946 + Missense_Mutation SNP T T C TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 6 165956946 165956946 T C SNP PDE10A ENST00000539869 human ensembl 74_37 -1 known missense c.178 p.K60E 1.000 NULL pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE10A HGNC ENSG00000112541 70 0 0 52 45 46.3918 RPS6KA2 0 genome.wustl.edu 37 6 166836802 166836802 + Missense_Mutation SNP C C T TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 6 166836802 166836802 C T SNP RPS6KA2 ENST00000510118 human ensembl 74_37 -1 known missense c.1760 p.R587H 0.971 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,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors RPS6KA2 HGNC ENSG00000071242 59 0 0 40 25 38.4615 SLC17A4 0 genome.wustl.edu 37 6 25762200 25762200 + Missense_Mutation SNP G G A TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 6 25762200 25762200 G A SNP SLC17A4 ENST00000377905 human ensembl 74_37 +1 known missense c.10 p.G4R 0.000 superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A4 HGNC ENSG00000146039 38 0 0 57 16 21.9178 SLC17A2 0 genome.wustl.edu 37 6 25913642 25913642 + Missense_Mutation SNP G G C TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 6 25913642 25913642 G C SNP SLC17A2 ENST00000377850 human ensembl 74_37 -1 known missense c.1340 p.S447C 0.944 superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A2 HGNC ENSG00000112337 42 0 0 28 18 39.1304 BTN1A1 0 genome.wustl.edu 37 6 26508302 26508302 + Silent SNP T T A TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 6 26508302 26508302 T A SNP BTN1A1 ENST00000244513 human ensembl 74_37 +1 known silent c.894 p.A298 0.008 superfamily_ConA-like_lec_gl_sf,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Ig_V-set,pfam_CD80_C2-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Ig-like_dom,prints_Butyrophylin - no_errors BTN1A1 HGNC ENSG00000124557 85 0 0 82 24 22.6415 ZNRD1 0 genome.wustl.edu 37 6 30029766 30029766 + Missense_Mutation SNP A A C TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 6 30029766 30029766 A C SNP ZNRD1 ENST00000332435 human ensembl 74_37 +1 known missense c.218 p.E73A 0.945 NULL pfam_Znf_TFIIS,smart_Znf_TFIIS,pfscan_Znf_TFIIS - no_errors ZNRD1 HGNC ENSG00000066379 121 0 0 99 27 21.4286 SKIV2L 0 genome.wustl.edu 37 6 31935513 31935513 + Silent SNP A A C TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 6 31935513 31935513 A C SNP SKIV2L ENST00000375394 human ensembl 74_37 +1 known silent c.2605 p.R869 0.997 pirsf_RNA_helicase_ATP-dep_SK12/DOB1 pfam_DSH_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pirsf_RNA_helicase_ATP-dep_SK12/DOB1,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SKIV2L HGNC ENSG00000204351 134 0 0 121 32 20.915 CYP21A2 0 genome.wustl.edu 37 6 32006979 32006979 + Missense_Mutation SNP A A T TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 6 32006979 32006979 A T SNP CYP21A2 ENST00000418967 human ensembl 74_37 +1 known missense c.401 p.D134V 0.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP21A2 HGNC ENSG00000231852 10 0 0 10 3 23.0769 TNXB 0 genome.wustl.edu 37 6 32017337 32017337 + Missense_Mutation SNP G G T TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 6 32017337 32017337 G T SNP TNXB ENST00000375247 human ensembl 74_37 -1 known missense c.9461 p.P3154H 0.756 NULL pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC ENSG00000168477 38 0 0 29 12 29.2683 GPSM3 0 genome.wustl.edu 37 6 32159994 32159994 + Missense_Mutation SNP G G A TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 6 32159994 32159994 G A SNP GPSM3 ENST00000375040 human ensembl 74_37 -1 known missense c.76 p.P26S 0.686 NULL pfam_GoLoco_motif,smart_GoLoco_motif,pfscan_GoLoco_motif - no_errors GPSM3 HGNC ENSG00000213654 69 0 0 48 15 23.8095 BRD2 0 genome.wustl.edu 37 6 32942489 32942489 + Nonsense_Mutation SNP C C T TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 6 32942489 32942489 C T SNP BRD2 ENST00000395289 human ensembl 74_37 +1 known nonsense c.280 p.Q94* 1.000 pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD2 HGNC ENSG00000204256 59 0 0 50 13 20.6349 PTK7 0 genome.wustl.edu 37 6 43098135 43098135 + Missense_Mutation SNP A A G TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 6 43098135 43098135 A G SNP PTK7 ENST00000230419 human ensembl 74_37 +1 known missense c.638 p.Q213R 1.000 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Immunoglobulin,pfam_Prot_kinase_dom,pfam_Ig_V-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PTK7 HGNC ENSG00000112655 66 0 0 43 16 27.1186 LY86 0 genome.wustl.edu 37 6 6626652 6626652 + Missense_Mutation SNP G G A TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 6 6626652 6626652 G A SNP LY86 ENST00000230568 human ensembl 74_37 +1 known missense c.350 p.G117E 1.000 pfam_ML_dom,superfamily_Ig_E-set,smart_ML_dom pfam_ML_dom,superfamily_Ig_E-set,smart_ML_dom - no_errors LY86 HGNC ENSG00000112799 55 0 0 46 28 37.8378 COL9A1 0 genome.wustl.edu 37 6 70935702 70935702 + Silent SNP T T A TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 6 70935702 70935702 T A SNP COL9A1 ENST00000357250 human ensembl 74_37 -1 known silent c.2514 p.G838 0.983 pfam_Collagen pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL9A1 HGNC ENSG00000112280 66 0 0 64 20 23.8095 HTR1E 0 genome.wustl.edu 37 6 87725329 87725329 + Missense_Mutation SNP T T C TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 6 87725329 87725329 T C SNP HTR1E ENST00000305344 human ensembl 74_37 +1 known missense c.277 p.F93L 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT_rcpt - no_errors HTR1E HGNC ENSG00000168830 141 0 0 77 59 43.3824 MDN1 0 genome.wustl.edu 37 6 90418231 90418231 + Nonsense_Mutation SNP C C A TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 6 90418231 90418231 C A SNP MDN1 ENST00000369393 human ensembl 74_37 -1 known nonsense c.7882 p.E2628* 1.000 pirsf_Midasin pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC ENSG00000112159 119 1 0.833333 131 43 24.7126 UFL1 0 genome.wustl.edu 37 6 96997371 96997371 + Missense_Mutation SNP G G A TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 6 96997371 96997371 G A SNP UFL1 ENST00000369278 human ensembl 74_37 +1 known missense c.1604 p.R535H 1.000 NULL pfam_E3_UFM1_ligase_1 - no_errors UFL1 HGNC ENSG00000014123 60 0 0 40 37 48.0519 MUC17 0 genome.wustl.edu 37 7 100685361 100685361 + Missense_Mutation SNP G G A TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 7 100685361 100685361 G A SNP MUC17 ENST00000306151 human ensembl 74_37 +1 known missense c.10664 p.S3555N 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors MUC17 HGNC ENSG00000169876 343 0 0 319 98 23.5012 SLC26A4 0 genome.wustl.edu 37 7 107330610 107330610 + Missense_Mutation SNP C C G TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 7 107330610 107330610 C G SNP SLC26A4 ENST00000265715 human ensembl 74_37 +1 known missense c.1191 p.F397L 1.000 pfam_Sulph_transpt,tigrfam_SulP_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A4 HGNC ENSG00000091137 152 0 0 108 93 46.2687 SCIN 0 genome.wustl.edu 37 7 12683929 12683929 + Missense_Mutation SNP G G C TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 7 12683929 12683929 G C SNP SCIN ENST00000297029 human ensembl 74_37 +1 known missense c.1748 p.G583A 0.999 pfam_Gelsolin_dom,smart_Villin/Gelsolin,prints_Villin/Gelsolin pfam_Gelsolin_dom,smart_Villin/Gelsolin,prints_Villin/Gelsolin - no_errors SCIN HGNC ENSG00000006747 9 0 0 7 3 30 CCDC136 0 genome.wustl.edu 37 7 128454794 128454794 + Missense_Mutation SNP C C G TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 7 128454794 128454794 C G SNP CCDC136 ENST00000297788 human ensembl 74_37 +1 known missense c.2866 p.Q956E 0.998 NULL NULL - no_errors CCDC136 HGNC ENSG00000128596 18 0 0 16 5 23.8095 PLXNA4 0 genome.wustl.edu 37 7 131825391 131825391 + Missense_Mutation SNP T T G TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 7 131825391 131825391 T G SNP PLXNA4 ENST00000321063 human ensembl 74_37 -1 known missense c.5405 p.K1802T 1.000 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA4 HGNC ENSG00000221866 95 0 0 54 19 26.0274 TRPV5 0 genome.wustl.edu 37 7 142609646 142609646 + Splice_Site SNP A A G TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 7 142609646 142609646 A G SNP TRPV5 ENST00000265310 human ensembl 74_37 -1 known splice_site c.1788+2 e13+2 1.000 - - - no_errors TRPV5 HGNC ENSG00000127412 78 0 0 42 21 33.3333 ABCB5 0 genome.wustl.edu 37 7 20682932 20682932 + Missense_Mutation SNP T T G TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 7 20682932 20682932 T G SNP ABCB5 ENST00000404938 human ensembl 74_37 +1 putative missense c.440 p.V147G 0.515 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB5 HGNC ENSG00000004846 48 0 0 42 6 12.5 PCLO 0 genome.wustl.edu 37 7 82451955 82451955 + Nonsense_Mutation SNP T T A TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 7 82451955 82451955 T A SNP PCLO ENST00000333891 human ensembl 74_37 -1 known nonsense c.14647 p.K4883* 1.000 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 257 0 0 260 83 24.1983 PCLO 0 genome.wustl.edu 37 7 82544574 82544574 + Missense_Mutation SNP A A C TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 7 82544574 82544574 A C SNP PCLO ENST00000333891 human ensembl 74_37 -1 known missense c.12728 p.F4243C 1.000 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 38 0 0 18 17 48.5714 PCLO 0 genome.wustl.edu 37 7 82545563 82545563 + Silent SNP A A G TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 7 82545563 82545563 A G SNP PCLO ENST00000333891 human ensembl 74_37 -1 known silent c.11739 p.T3913 0.989 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 401 0 0 322 117 26.6515 SEMA3D 0 genome.wustl.edu 37 7 84666269 84666269 + Missense_Mutation SNP T T C TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 7 84666269 84666269 T C SNP SEMA3D ENST00000284136 human ensembl 74_37 -1 known missense c.1127 p.K376R 1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Ig_V-set,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA3D HGNC ENSG00000153993 113 0 0 110 40 26.6667 SEMA3D 0 genome.wustl.edu 37 7 84751064 84751064 + Silent SNP G G T TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 7 84751064 84751064 G T SNP SEMA3D ENST00000284136 human ensembl 74_37 -1 known silent c.144 p.T48 0.989 superfamily_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Ig_V-set,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA3D HGNC ENSG00000153993 29 0 0 29 7 19.4444 RUNDC3B 0 genome.wustl.edu 37 7 87280192 87280192 + Silent SNP T T G TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 7 87280192 87280192 T G SNP RUNDC3B ENST00000338056 human ensembl 74_37 +1 known silent c.177 p.S59 0.965 pfscan_Run pfam_Run,smart_Run,pfscan_Run - no_errors RUNDC3B HGNC ENSG00000105784 48 0 0 33 27 45 DPY19L2P4 0 genome.wustl.edu 37 7 89749029 89749029 + RNA SNP G G A TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 7 89749029 89749029 G A SNP DPY19L2P4 ENST00000497063 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors DPY19L2P4 HGNC ENSG00000235436 20 0 0 14 4 22.2222 KRIT1 0 genome.wustl.edu 37 7 91863882 91863882 + Silent SNP A A G TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 7 91863882 91863882 A G SNP KRIT1 ENST00000340022 human ensembl 74_37 -1 known silent c.870 p.F290 1.000 smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_FERM_central,superfamily_Ankyrin_rpt-contain_dom,superfamily_FERM_central,smart_Ankyrin_rpt,smart_Band_41_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_FERM_domain - no_errors KRIT1 HGNC ENSG00000001631 61 0 0 73 16 17.9775 COL1A2 0 genome.wustl.edu 37 7 94054940 94054940 + Missense_Mutation SNP G G A TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 7 94054940 94054940 G A SNP COL1A2 ENST00000297268 human ensembl 74_37 +1 known missense c.2800 p.G934S 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fib_collagen_C - no_errors COL1A2 HGNC ENSG00000164692 92 0 0 78 14 15.2174 LMTK2 0 genome.wustl.edu 37 7 97821315 97821315 + Missense_Mutation SNP C C T TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 7 97821315 97821315 C T SNP LMTK2 ENST00000297293 human ensembl 74_37 +1 known missense c.1538 p.S513L 0.708 NULL 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,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors LMTK2 HGNC ENSG00000164715 72 0 0 73 12 14.1176 TRRAP 0 genome.wustl.edu 37 7 98567766 98567766 + Missense_Mutation SNP C C G TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 7 98567766 98567766 C G SNP TRRAP ENST00000359863 human ensembl 74_37 +1 known missense c.7523 p.P2508R 0.992 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors TRRAP HGNC ENSG00000196367 128 0 0 95 18 15.9292 ANGPT1 0 genome.wustl.edu 37 8 108334272 108334272 + Silent SNP T T C TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 8 108334272 108334272 T C SNP ANGPT1 ENST00000517746 human ensembl 74_37 -1 known silent c.660 p.Q220 0.971 NULL pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors ANGPT1 HGNC ENSG00000154188 45 0 0 63 12 16 PKHD1L1 0 genome.wustl.edu 37 8 110417313 110417313 + Silent SNP A A C TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 8 110417313 110417313 A C SNP PKHD1L1 ENST00000378402 human ensembl 74_37 +1 known silent c.1623 p.S541 0.566 NULL pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1 - no_errors PKHD1L1 HGNC ENSG00000205038 8 0 0 4 3 42.8571 MTMR9 0 genome.wustl.edu 37 8 11142565 11142565 + Missense_Mutation SNP C C G TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 8 11142565 11142565 C G SNP MTMR9 ENST00000221086 human ensembl 74_37 +1 known missense c.168 p.D56E 1.000 NULL pfam_Myotubularin-like_Pase_dom - no_errors MTMR9 HGNC ENSG00000104643 23 0 0 24 3 11.1111 SNTB1 0 genome.wustl.edu 37 8 121551190 121551190 + Missense_Mutation SNP C C A TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 8 121551190 121551190 C A SNP SNTB1 ENST00000395601 human ensembl 74_37 -1 known missense c.1544 p.C515F 1.000 NULL pfam_PDZ,pfam_Pleckstrin_homology,superfamily_PDZ,smart_Pleckstrin_homology,smart_PDZ,pfscan_PDZ,pfscan_Pleckstrin_homology - no_errors SNTB1 HGNC ENSG00000172164 35 0 0 35 12 25.5319 KCNQ3 0 genome.wustl.edu 37 8 133142094 133142094 + Silent SNP G G A TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 8 133142094 133142094 G A SNP KCNQ3 ENST00000388996 human ensembl 74_37 -1 known silent c.2034 p.S678 0.054 NULL pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ3,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ3 HGNC ENSG00000184156 146 0 0 128 22 14.6667 KCNQ3 0 genome.wustl.edu 37 8 133492407 133492407 + Missense_Mutation SNP A A T TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 8 133492407 133492407 A T SNP KCNQ3 ENST00000388996 human ensembl 74_37 -1 known missense c.373 p.Y125N 1.000 NULL pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ3,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ3 HGNC ENSG00000184156 31 0 0 20 16 44.4444 TG 0 genome.wustl.edu 37 8 133895189 133895189 + Silent SNP C C T TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 8 133895189 133895189 C T SNP TG ENST00000220616 human ensembl 74_37 +1 known silent c.1020 p.D340 0.000 pfam_Thyroglobulin_1,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1 pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1 - no_errors TG HGNC ENSG00000042832 30 0 0 18 18 50 FAM135B 0 genome.wustl.edu 37 8 139189620 139189620 + Missense_Mutation SNP T T G TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 8 139189620 139189620 T G SNP FAM135B ENST00000395297 human ensembl 74_37 -1 known missense c.1073 p.K358T 0.984 pfam_DUF3657 pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like - no_errors FAM135B HGNC ENSG00000147724 35 0 0 48 10 17.2414 PTK2 0 genome.wustl.edu 37 8 141771262 141771262 + Splice_Site SNP A A G TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 8 141771262 141771262 A G SNP PTK2 ENST00000395218 human ensembl 74_37 -1 known splice_site c.1332+2 e14+2 1.000 - - - no_errors PTK2 HGNC ENSG00000169398 65 0 0 61 22 26.506 MSR1 0 genome.wustl.edu 37 8 16026026 16026026 + Nonsense_Mutation SNP G G A TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 8 16026026 16026026 G A SNP MSR1 ENST00000262101 human ensembl 74_37 -1 known nonsense c.571 p.Q191* 0.273 superfamily_STAT_TF_coiled-coil pfam_SRCR,pfam_Macro_scav_rcpt,pfam_Collagen,superfamily_Srcr_rcpt-rel,superfamily_STAT_TF_coiled-coil,smart_Srcr_rcpt-rel,prints_Macro_scav_rcpt,prints_SRCR,pfscan_SRCR - no_errors MSR1 HGNC ENSG00000038945 56 0 0 54 16 22.8571 MSR1 0 genome.wustl.edu 37 8 16026126 16026126 + Silent SNP C C A TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 8 16026126 16026126 C A SNP MSR1 ENST00000262101 human ensembl 74_37 -1 known silent c.471 p.L157 0.926 pfam_Macro_scav_rcpt,prints_Macro_scav_rcpt pfam_SRCR,pfam_Macro_scav_rcpt,pfam_Collagen,superfamily_Srcr_rcpt-rel,superfamily_STAT_TF_coiled-coil,smart_Srcr_rcpt-rel,prints_Macro_scav_rcpt,prints_SRCR,pfscan_SRCR - no_errors MSR1 HGNC ENSG00000038945 96 0 0 101 33 24.6269 NRG1 0 genome.wustl.edu 37 8 32453467 32453467 + Silent SNP G G A TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 8 32453467 32453467 G A SNP NRG1 ENST00000338921 human ensembl 74_37 +1 known silent c.222 p.G74 0.996 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Neuregulin_1_C,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Ig-like_dom,prints_Neuregulin - no_errors NRG1 HGNC ENSG00000157168 106 0 0 66 52 44.0678 UNC5D 0 genome.wustl.edu 37 8 35584038 35584038 + Missense_Mutation SNP C C G TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 8 35584038 35584038 C G SNP UNC5D ENST00000404895 human ensembl 74_37 +1 known missense c.1672 p.P558A 1.000 pfam_ZU5,smart_ZU5,pfscan_ZU5 pfam_ZU5,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Death_domain,pfam_Immunoglobulin,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom - no_errors UNC5D HGNC ENSG00000156687 186 0 0 105 110 51.1628 VCPIP1 0 genome.wustl.edu 37 8 67577683 67577683 + Missense_Mutation SNP G G A TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 8 67577683 67577683 G A SNP VCPIP1 ENST00000310421 human ensembl 74_37 -1 known missense c.1511 p.T504I 1.000 NULL pfam_OTU,pfscan_OTU - no_errors VCPIP1 HGNC ENSG00000175073 184 0 0 162 55 25.3456 PREX2 0 genome.wustl.edu 37 8 68981299 68981299 + Missense_Mutation SNP G G T TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 8 68981299 68981299 G T SNP PREX2 ENST00000288368 human ensembl 74_37 +1 known missense c.1371 p.Q457H 1.000 pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom 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 43 0 0 32 21 39.6226 NCOA2 0 genome.wustl.edu 37 8 71068598 71068598 + Missense_Mutation SNP A A T TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 8 71068598 71068598 A T SNP NCOA2 ENST00000452400 human ensembl 74_37 -1 known missense c.2002 p.S668T 1.000 pfam_SRC-1,pirsf_Nuclear_rcpt_coactivator pfam_DUF1518,pfam_SRC-1,pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_PAS_fold,superfamily_PAS,superfamily_Nuc_rcpt_coact,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_bHLH_dom - no_errors NCOA2 HGNC ENSG00000140396 150 0 0 86 72 45.5696 ZFHX4 0 genome.wustl.edu 37 8 77616667 77616667 + Missense_Mutation SNP A A G TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 8 77616667 77616667 A G SNP ZFHX4 ENST00000521891 human ensembl 74_37 +1 known missense c.344 p.E115G 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 140 0 0 120 41 25.4658 COL15A1 0 genome.wustl.edu 37 9 101784383 101784383 + Missense_Mutation SNP G G C TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 9 101784383 101784383 G C SNP COL15A1 ENST00000375001 human ensembl 74_37 +1 known missense c.1712 p.G571A 0.036 NULL pfam_Collagenase_NC10/endostatin,pfam_Collagen,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL15A1 HGNC ENSG00000204291 164 0 0 165 34 17.0854 GRIN3A 0 genome.wustl.edu 37 9 104432369 104432369 + Missense_Mutation SNP T T G TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 9 104432369 104432369 T G SNP GRIN3A ENST00000361820 human ensembl 74_37 -1 known missense c.2325 p.E775D 1.000 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,prints_NMDA_rcpt - no_errors GRIN3A HGNC ENSG00000198785 80 0 0 66 58 46.7742 OR13C4 0 genome.wustl.edu 37 9 107289434 107289434 + Silent SNP A A C TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 9 107289434 107289434 A C SNP OR13C4 ENST00000277216 human ensembl 74_37 -1 known silent c.57 p.G19 0.123 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR13C4 HGNC ENSG00000148136 87 0 0 59 43 42.1569 SVEP1 0 genome.wustl.edu 37 9 113212395 113212395 + Missense_Mutation SNP A A C TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 9 113212395 113212395 A C SNP SVEP1 ENST00000401783 human ensembl 74_37 -1 known missense c.4047 p.C1349W 1.000 pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_Sushi_SCR_CCP,pfam_EG-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Growth_fac_rcpt_N_dom,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin - no_errors SVEP1 HGNC ENSG00000165124 298 0 0 279 86 23.5616 MAPKAP1 0 genome.wustl.edu 37 9 128268643 128268643 + Missense_Mutation SNP C C A TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 9 128268643 128268643 C A SNP MAPKAP1 ENST00000265960 human ensembl 74_37 -1 known missense c.1012 p.D338Y 1.000 pfam_SIN1 pfam_SIN1 - no_errors MAPKAP1 HGNC ENSG00000119487 115 0 0 82 35 29.9145 RAPGEF1 0 genome.wustl.edu 37 9 134501456 134501456 + Missense_Mutation SNP C C T TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 9 134501456 134501456 C T SNP RAPGEF1 ENST00000372190 human ensembl 74_37 -1 known missense c.1558 p.V520I 0.000 NULL pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RAPGEF1 HGNC ENSG00000107263 32 0 0 30 16 34.7826 ADAMTS13 0 genome.wustl.edu 37 9 136310934 136310934 + Missense_Mutation SNP G G A TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 9 136310934 136310934 G A SNP ADAMTS13 ENST00000371929 human ensembl 74_37 +1 known missense c.2725 p.G909R 0.998 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,superfamily_CUB_dom,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS13 HGNC ENSG00000160323 61 0 0 35 40 53.3333 TRPM3 0 genome.wustl.edu 37 9 73457939 73457939 + Missense_Mutation SNP C C G TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 9 73457939 73457939 C G SNP TRPM3 ENST00000423814 human ensembl 74_37 -1 known missense c.787 p.E263Q 1.000 NULL pfam_Ion_trans_dom - no_errors TRPM3 HGNC ENSG00000083067 39 0 0 55 12 17.9104 VPS13A 0 genome.wustl.edu 37 9 79985399 79985399 + Missense_Mutation SNP G G C TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 9 79985399 79985399 G C SNP VPS13A ENST00000360280 human ensembl 74_37 +1 known missense c.8812 p.D2938H 1.000 NULL pfam_VPSAP_dom,pfam_Autophagy-rel_C - no_errors VPS13A HGNC ENSG00000197969 65 0 0 46 47 50.5376 VPS13A 0 genome.wustl.edu 37 9 79985400 79985400 + Missense_Mutation SNP A A T TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 9 79985400 79985400 A T SNP VPS13A ENST00000360280 human ensembl 74_37 +1 known missense c.8813 p.D2938V 1.000 NULL pfam_VPSAP_dom,pfam_Autophagy-rel_C - no_errors VPS13A HGNC ENSG00000197969 65 0 0 46 47 50.5376 KIF27 0 genome.wustl.edu 37 9 86506355 86506355 + Missense_Mutation SNP A A C TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 9 86506355 86506355 A C SNP KIF27 ENST00000297814 human ensembl 74_37 -1 known missense c.1664 p.L555R 1.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF27 HGNC ENSG00000165115 31 0 0 27 24 47.0588 GLA 0 genome.wustl.edu 37 X 100656666 100656666 + Silent SNP T T C TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 X 100656666 100656666 T C SNP GLA ENST00000218516 human ensembl 74_37 -1 known silent c.501 p.L167 0.819 superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_27 pfam_Glyco_hydro_GHD,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_27 - no_errors GLA HGNC ENSG00000102393 157 0 0 203 17 7.72727 TCEAL6 0 genome.wustl.edu 37 X 101396123 101396123 + Missense_Mutation SNP C C T TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 X 101396123 101396123 C T SNP TCEAL6 ENST00000372773 human ensembl 74_37 -1 known missense c.181 p.E61K 0.000 pfam_TF_A-like/BEX-like pfam_TF_A-like/BEX-like - no_errors TCEAL6 HGNC ENSG00000204071 144 0 0 164 12 6.81818 WDR44 0 genome.wustl.edu 37 X 117526603 117526603 + Silent SNP A A G TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 X 117526603 117526603 A G SNP WDR44 ENST00000254029 human ensembl 74_37 +1 known silent c.195 p.E65 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR44 HGNC ENSG00000131725 54 0 0 65 45 40.9091 RBMX2 0 genome.wustl.edu 37 X 129545434 129545434 + Missense_Mutation SNP G G A TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 X 129545434 129545434 G A SNP RBMX2 ENST00000305536 human ensembl 74_37 +1 known missense c.416 p.R139H 0.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBMX2 HGNC ENSG00000134597 43 0 0 49 28 36.3636 IGSF1 0 genome.wustl.edu 37 X 130408803 130408803 + Missense_Mutation SNP T T A TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 X 130408803 130408803 T A SNP IGSF1 ENST00000370903 human ensembl 74_37 -1 known missense c.3536 p.K1179M 0.994 smart_Ig_sub,smart_Ig_sub2 pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors IGSF1 HGNC ENSG00000147255 188 0 0 165 91 35.5469 IGSF1 0 genome.wustl.edu 37 X 130416654 130416654 + Missense_Mutation SNP T T G TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 X 130416654 130416654 T G SNP IGSF1 ENST00000370903 human ensembl 74_37 -1 known missense c.1010 p.Q337P 0.445 pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors IGSF1 HGNC ENSG00000147255 116 0 0 119 51 30 ZNF75D 0 genome.wustl.edu 37 X 134426356 134426356 + Missense_Mutation SNP C C T TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 X 134426356 134426356 C T SNP ZNF75D ENST00000370766 human ensembl 74_37 -1 known missense c.455 p.G152E 0.357 smart_Tscrpt_reg_SCAN pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF75D HGNC ENSG00000186376 144 0 0 143 39 21.4286 SAGE1 0 genome.wustl.edu 37 X 134993908 134993908 + Missense_Mutation SNP G G C TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 X 134993908 134993908 G C SNP SAGE1 ENST00000324447 human ensembl 74_37 +1 known missense c.2317 p.D773H 0.972 NULL NULL - no_errors SAGE1 HGNC ENSG00000181433 199 0 0 183 111 37.7551 F9 0 genome.wustl.edu 37 X 138633258 138633258 + Silent SNP T T G TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 X 138633258 138633258 T G SNP F9 ENST00000218099 human ensembl 74_37 +1 known silent c.558 p.T186 0.000 pirsf_Pept_S1A_FX pfam_Peptidase_S1,pfam_GLA_domain,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Peptidase_S1,pirsf_Pept_S1A_FX,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Peptidase_S1,prints_Peptidase_S1A,prints_GLA_domain - no_errors F9 HGNC ENSG00000101981 69 0 0 57 34 37.3626 CXorf66 0 genome.wustl.edu 37 X 139038893 139038893 + Missense_Mutation SNP T T G TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 X 139038893 139038893 T G SNP CXorf66 ENST00000370540 human ensembl 74_37 -1 known missense c.248 p.K83T 0.006 NULL NULL - no_errors CXorf66 HGNC ENSG00000203933 98 0 0 116 34 22.6667 SOX3 0 genome.wustl.edu 37 X 139586756 139586756 + Missense_Mutation SNP A A G TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 X 139586756 139586756 A G SNP SOX3 ENST00000370536 human ensembl 74_37 -1 known missense c.470 p.M157T 1.000 pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom pfam_HMG_box_dom,pfam_TF_SOX,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX3 HGNC ENSG00000134595 69 0 0 83 42 33.6 MAGEC1 0 genome.wustl.edu 37 X 140996141 140996141 + Missense_Mutation SNP C C A TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 X 140996141 140996141 C A SNP MAGEC1 ENST00000285879 human ensembl 74_37 +1 known missense c.2951 p.S984Y 0.013 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors MAGEC1 HGNC ENSG00000155495 158 0 0 192 41 17.5966 MAGEA8 0 genome.wustl.edu 37 X 149013559 149013559 + Missense_Mutation SNP A A C TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 X 149013559 149013559 A C SNP MAGEA8 ENST00000286482 human ensembl 74_37 +1 known missense c.513 p.E171D 0.027 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEA8 HGNC ENSG00000156009 95 0 0 95 41 30.1471 MAGEA3 0 genome.wustl.edu 37 X 151935504 151935504 + Missense_Mutation SNP G G C TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 X 151935504 151935504 G C SNP MAGEA3 ENST00000370278 human ensembl 74_37 -1 known missense c.663 p.I221M 0.007 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEA3 HGNC ENSG00000221867 260 0 0 246 161 39.5577 GDI1 0 genome.wustl.edu 37 X 153670030 153670030 + Missense_Mutation SNP G G C TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 X 153670030 153670030 G C SNP GDI1 ENST00000447750 human ensembl 74_37 +1 known missense c.880 p.A294P 1.000 pfam_GDP_dissociation_inhibitor pfam_GDP_dissociation_inhibitor,prints_RabGDI,prints_GDP_dissociation_inhibitor - no_errors GDI1 HGNC ENSG00000203879 132 0 0 143 32 18.2857 PLXNA3 0 genome.wustl.edu 37 X 153699945 153699945 + Silent SNP C C T TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 X 153699945 153699945 C T SNP PLXNA3 ENST00000369682 human ensembl 74_37 +1 known silent c.5484 p.N1828 0.524 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA3 HGNC ENSG00000130827 78 0 0 76 35 31.5315 DKC1 0 genome.wustl.edu 37 X 154002965 154002965 + Missense_Mutation SNP A A G TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 X 154002965 154002965 A G SNP DKC1 ENST00000369550 human ensembl 74_37 +1 known missense c.1244 p.E415G 0.299 NULL pfam_Dyskerin-like,pfam_PsdUridine_synth,pfam_PUA,superfamily_PsdUridine_synth_cat_dom,superfamily_PUA-like_domain,smart_PUA,pfscan_PUA,tigrfam_tRNA_PsdUridine_synth_B_fam,tigrfam_Uncharacterised_CHP00451 - no_errors DKC1 HGNC ENSG00000130826 54 0 0 35 14 28.5714 REPS2 0 genome.wustl.edu 37 X 17024429 17024429 + Missense_Mutation SNP A A T TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 X 17024429 17024429 A T SNP REPS2 ENST00000357277 human ensembl 74_37 +1 known missense c.359 p.Q120L 1.000 pfscan_EPS15_homology smart_EPS15_homology,pfscan_EF_hand_dom,pfscan_EPS15_homology - no_errors REPS2 HGNC ENSG00000169891 169 0 0 238 46 16.1972 RAI2 0 genome.wustl.edu 37 X 17818669 17818669 + Missense_Mutation SNP T T A TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 X 17818669 17818669 T A SNP RAI2 ENST00000331511 human ensembl 74_37 -1 known missense c.1462 p.M488L 0.974 NULL NULL - no_errors RAI2 HGNC ENSG00000131831 300 0 0 515 34 6.19308 RAI2 0 genome.wustl.edu 37 X 17818670 17818670 + Silent SNP G G T TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 X 17818670 17818670 G T SNP RAI2 ENST00000331511 human ensembl 74_37 -1 known silent c.1461 p.S487 1.000 NULL NULL - no_errors RAI2 HGNC ENSG00000131831 302 0 0 513 34 6.21572 SH3KBP1 0 genome.wustl.edu 37 X 19587262 19587262 + Missense_Mutation SNP C C G TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 X 19587262 19587262 C G SNP SH3KBP1 ENST00000397821 human ensembl 74_37 -1 known missense c.1343 p.G448A 0.981 NULL pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_p67phox,prints_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SH3KBP1 HGNC ENSG00000147010 220 0 0 224 107 32.3263 DMD 0 genome.wustl.edu 37 X 32381009 32381009 + Silent SNP A A G TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 X 32381009 32381009 A G SNP DMD ENST00000357033 human ensembl 74_37 -1 known silent c.5221 p.L1741 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 74 0 0 62 44 41.5094 FAM47A 0 genome.wustl.edu 37 X 34148104 34148104 + Silent SNP A A C TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 X 34148104 34148104 A C SNP FAM47A ENST00000346193 human ensembl 74_37 -1 known silent c.2292 p.T764 0.020 NULL NULL - no_errors FAM47A HGNC ENSG00000185448 143 0 0 137 80 36.8664 CXorf67 0 genome.wustl.edu 37 X 51150232 51150232 + Missense_Mutation SNP G G A TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 X 51150232 51150232 G A SNP CXorf67 ENST00000342995 human ensembl 74_37 +1 known missense c.364 p.A122T 0.000 NULL NULL - no_errors CXorf67 HGNC ENSG00000187690 13 0 0 18 5 21.7391 CXorf67 0 genome.wustl.edu 37 X 51151081 51151081 + Missense_Mutation SNP C C T TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 X 51151081 51151081 C T SNP CXorf67 ENST00000342995 human ensembl 74_37 +1 known missense c.1213 p.R405C 0.001 NULL NULL - no_errors CXorf67 HGNC ENSG00000187690 53 0 0 44 25 36.2319 AR 0 genome.wustl.edu 37 X 66941796 66941796 + Missense_Mutation SNP T T C TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 X 66941796 66941796 T C SNP AR ENST00000374690 human ensembl 74_37 +1 known missense c.2440 p.F814L 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core 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 58 0 0 60 19 24.0506 SLC7A3 0 genome.wustl.edu 37 X 70149577 70149577 + Missense_Mutation SNP C C G TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 X 70149577 70149577 C G SNP SLC7A3 ENST00000298085 human ensembl 74_37 -1 known missense c.271 p.V91L 0.989 pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1,tigrfam_Cat_AA_permease pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1,tigrfam_Cat_AA_permease - no_errors SLC7A3 HGNC ENSG00000165349 36 0 0 36 20 35.7143 CXCR3 0 genome.wustl.edu 37 X 70836601 70836601 + Missense_Mutation SNP C C T TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 X 70836601 70836601 C T SNP CXCR3 ENST00000373691 human ensembl 74_37 -1 known missense c.862 p.V288M 0.188 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR4 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR3,prints_GPCR_Rhodpsn,prints_Chemokine_CXCR4,prints_Chemokine_rcpt,prints_ATII_rcpt - no_errors CXCR3 HGNC ENSG00000186810 12 0 0 13 4 23.5294 NAP1L2 0 genome.wustl.edu 37 X 72433470 72433470 + Missense_Mutation SNP G G C TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 X 72433470 72433470 G C SNP NAP1L2 ENST00000373517 human ensembl 74_37 -1 known missense c.859 p.L287V 0.992 pfam_NAP_family pfam_NAP_family - no_errors NAP1L2 HGNC ENSG00000186462 49 0 0 55 28 33.7349 ATRX 0 genome.wustl.edu 37 X 76888866 76888866 + Missense_Mutation SNP C C T TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 X 76888866 76888866 C T SNP ATRX ENST00000373344 human ensembl 74_37 -1 known missense c.4963 p.E1655K 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,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ATRX HGNC ENSG00000085224 181 0 0 182 112 38.0952 ATP7A 0 genome.wustl.edu 37 X 77284767 77284767 + Silent SNP C C T TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 X 77284767 77284767 C T SNP ATP7A ENST00000341514 human ensembl 74_37 +1 known silent c.2937 p.S979 0.740 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_Cation_transp_P-typ_ATPase_IB pfam_HeavyMe-assoc_HMA,pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,prints_Cation_transp_P_typ_ATPase,prints_HG_scavenger,tigrfam_Cation_transp_P-typ_ATPase_IB,tigrfam_Cation_transp_P_typ_ATPase,tigrfam_HMA_Cu_ion-bd - no_errors ATP7A HGNC ENSG00000165240 255 0 0 346 70 16.8269 LPAR4 0 genome.wustl.edu 37 X 78010580 78010580 + Missense_Mutation SNP A A C TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 X 78010580 78010580 A C SNP LPAR4 ENST00000435339 human ensembl 74_37 +1 known missense c.214 p.S72R 1.000 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_GPCR_Rhodpsn - no_errors LPAR4 HGNC ENSG00000147145 186 0 0 231 78 25.2427 TBX22 0 genome.wustl.edu 37 X 79282369 79282369 + Splice_Site SNP T T A TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 X 79282369 79282369 T A SNP TBX22 ENST00000373294 human ensembl 74_37 +1 known splice_site c.798+2 e5+2 1.000 - - - no_errors TBX22 HGNC ENSG00000122145 66 0 0 87 17 16.3462 RPS6KA6 0 genome.wustl.edu 37 X 83359576 83359576 + Silent SNP G G A TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 X 83359576 83359576 G A SNP RPS6KA6 ENST00000262752 human ensembl 74_37 -1 known silent c.1545 p.F515 1.000 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,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom - no_errors RPS6KA6 HGNC ENSG00000072133 56 0 0 56 31 35.6322 PCDH11X 0 genome.wustl.edu 37 X 91137918 91137918 + Missense_Mutation SNP A A T TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 X 91137918 91137918 A T SNP PCDH11X ENST00000395337 human ensembl 74_37 +1 known missense c.3046 p.T1016S 1.000 NULL pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDH11X HGNC ENSG00000102290 65 0 0 55 28 33.7349 KMT2A 0 genome.wustl.edu 37 11 118352441 118352441 + Frame_Shift_Del DEL A A - TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 11 118352441 118352441 A - DEL KMT2A ENST00000389506 human ensembl 74_37 +1 known frame_shift_del c.3646 p.E1217fs 1.000 pirsf_MeTrfase_trithorax pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain - no_errors KMT2A HGNC ENSG00000118058 106 0 0 102 18 15 ARCN1 0 genome.wustl.edu 37 11 118461214 118461215 + Frame_Shift_Ins INS - - G TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 11 118461214 118461215 - G INS ARCN1 ENST00000264028 human ensembl 74_37 +1 known frame_shift_ins c.977_978 p.L327fs 1.000:1.000 pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pfscan_Clathrin_mu_C pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pfscan_Clathrin_mu_C - no_errors ARCN1 HGNC ENSG00000095139 103 0 0 54 45 45.4545 KLHL28 0 genome.wustl.edu 37 14 45414614 45414615 + Frame_Shift_Ins INS - - C TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 14 45414614 45414615 - C INS KLHL28 ENST00000396128 human ensembl 74_37 -1 known frame_shift_ins c.518_517 p.F173fs 1.000:1.000 pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL28 HGNC ENSG00000179454 101 0 0 112 31 21.6783 MT1L 0 genome.wustl.edu 37 16 56652646 56652647 + RNA INS - - T TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 16 56652646 56652647 - T INS MT1L ENST00000565768 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.001 - - - no_errors MT1L HGNC ENSG00000260549 27 0 0 14 8 36.3636 MYO9B 0 genome.wustl.edu 37 19 17294679 17294680 + Splice_Site INS - - A TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 19 17294679 17294680 - A INS MYO9B ENST00000594824 human ensembl 74_37 +1 known splice_site_ins c.2373+2_2373+1 e15+2 1.000:1.000 - - - no_errors MYO9B HGNC ENSG00000099331 8 0 0 4 3 42.8571 ZNF283 0 genome.wustl.edu 37 19 44339705 44339712 + Frame_Shift_Del DEL AGCATTAA AGCATTAA - TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 AGCATTAA AGCATTAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 19 44339705 44339712 AGCATTAA - DEL ZNF283 ENST00000324461 human ensembl 74_37 +1 known frame_shift_del c.171_178 p.A58fs 0.390:0.080:0.041:0.040:0.038:0.046:0.035:0.023 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF283 HGNC ENSG00000167637 30 0 0 11 4 26.6667 ICOS 0 genome.wustl.edu 37 2 204820653 204820654 + Frame_Shift_Ins INS - - T TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 2 204820653 204820654 - T INS ICOS ENST00000316386 human ensembl 74_37 +1 known frame_shift_ins c.353_354 p.K120fs 1.000:0.990 NULL NULL - no_errors ICOS HGNC ENSG00000163600 56 0 0 67 22 24.7191 ECEL1 0 genome.wustl.edu 37 2 233345443 233345445 + In_Frame_Del DEL GAA GAA - TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 GAA GAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 2 233345443 233345445 GAA - DEL ECEL1 ENST00000304546 human ensembl 74_37 -1 known in_frame_del c.2136_2134 p.F712in_frame_del 1.000:1.000:1.000 pfam_Peptidase_M13_C pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors ECEL1 HGNC ENSG00000171551 73 0 0 79 6 7.05882 GZF1 0 genome.wustl.edu 37 20 23345921 23345923 + In_Frame_Del DEL GAG GAG - TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 20 23345921 23345923 GAG - DEL GZF1 ENST00000338121 human ensembl 74_37 +1 known in_frame_del c.901_903 p.E304in_frame_del 0.114:0.119:0.104 NULL pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors GZF1 HGNC ENSG00000125812 60 0 0 76 6 7.31707 CST1 0 genome.wustl.edu 37 20 23729696 23729696 + Frame_Shift_Del DEL T T - TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 20 23729696 23729696 T - DEL CST1 ENST00000304749 human ensembl 74_37 -1 known frame_shift_del c.299 p.N100fs 0.419 pfam_Prot_inh_cystat,smart_Prot_inh_cystat pfam_Prot_inh_cystat,smart_Prot_inh_cystat - no_errors CST1 HGNC ENSG00000170373 340 0 0 427 42 8.95522 APC 0 genome.wustl.edu 37 5 112174736 112174738 + In_Frame_Del DEL GAA GAA - TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 GAA GAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 5 112174736 112174738 GAA - DEL APC ENST00000257430 human ensembl 74_37 +1 known in_frame_del c.3445_3447 p.E1151in_frame_del 1.000:1.000:1.000 pfam_APC_15aa_rpt pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors APC HGNC ENSG00000134982 57 0 0 42 16 27.5862 KATNA1 0 genome.wustl.edu 37 6 149922727 149922729 + Splice_Site DEL CAC CAC - TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 CAC CAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 6 149922727 149922729 CAC - DEL KATNA1 ENST00000335647 human ensembl 74_37 -1 known splice_site_del c.888+1_888+1 e6+1 1.000:1.000:1.000 - - - no_errors KATNA1 HGNC ENSG00000186625 111 0 0 93 16 14.6789 ZNF716 0 genome.wustl.edu 37 7 57529418 57529421 + Frame_Shift_Del DEL TAAC TAAC - TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 TAAC TAAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 7 57529418 57529421 TAAC - DEL ZNF716 ENST00000420713 human ensembl 74_37 +1 known frame_shift_del c.1251_1254 p.N418fs 0.811:0.385:0.033:0.024 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 ZNF716 HGNC ENSG00000182111 71 0 0 58 10 14.7059 CAMSAP1 0 genome.wustl.edu 37 9 138715799 138715800 + Frame_Shift_Ins INS - - T TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 9 138715799 138715800 - T INS CAMSAP1 ENST00000409386 human ensembl 74_37 -1 known frame_shift_ins c.1430_1429 p.T477fs 0.022:0.003 NULL pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrel-like,superfamily_CH-domain - no_errors CAMSAP1 HGNC ENSG00000130559 14 0 0 8 4 33.3333 ZNF81 0 genome.wustl.edu 37 X 47775984 47775984 + Frame_Shift_Del DEL T T - TCGA-BR-7704-01A-11D-2053-08 TCGA-BR-7704-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c1862014-6b34-43d3-bc2f-fa85dc6f5806 9bd9dfe3-570c-469d-8f0e-b75d2147f078 X 47775984 47775984 T - DEL ZNF81 ENST00000338637 human ensembl 74_37 +1 known frame_shift_del c.1939 p.F647fs 0.998 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 ZNF81 HGNC ENSG00000197779 44 0 0 39 20 33.8983