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 SLC6A17 0 genome.wustl.edu 37 1 110714822 110714822 + Missense_Mutation SNP G G A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 1 110714822 110714822 G A SNP SLC6A17 ENST00000331565 human ensembl 74_37 +1 known missense c.427 p.G143S 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan - no_errors SLC6A17 HGNC ENSG00000197106 15 0 0 7 4 36.3636 BCL9 0 genome.wustl.edu 37 1 147083510 147083510 + RNA SNP C C T TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 1 147083510 147083510 C T SNP BCL9 ENST00000473292 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors BCL9 HGNC ENSG00000116128 18 0 0 3 2 40 GJA8 0 genome.wustl.edu 37 1 147380926 147380926 + Missense_Mutation SNP A A C TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 1 147380926 147380926 A C SNP GJA8 ENST00000240986 human ensembl 74_37 +1 known missense c.844 p.T282P 0.988 pfam_Connexin50,prints_Connexin50 pfam_Connexin_N,pfam_Connexin50,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin50 - no_errors GJA8 HGNC ENSG00000121634 142 0 0 85 6 6.59341 MCL1 0 genome.wustl.edu 37 1 150550743 150550743 + Missense_Mutation SNP A A C TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 1 150550743 150550743 A C SNP MCL1 ENST00000369026 human ensembl 74_37 -1 known missense c.913 p.W305G 1.000 pfam_Blc2_fam,pfscan_Bcl2-like,prints_Blc2_fam pfam_Blc2_fam,pfscan_Bcl2-like,prints_Apop_reg_Mc1,prints_Blc2_fam - no_errors MCL1 HGNC ENSG00000143384 344 0 0 133 41 23.5632 POGZ 0 genome.wustl.edu 37 1 151378488 151378488 + Missense_Mutation SNP C C T TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 1 151378488 151378488 C T SNP POGZ ENST00000271715 human ensembl 74_37 -1 known missense c.3023 p.R1008Q 1.000 NULL pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_Znf_C2H2 - no_errors POGZ HGNC ENSG00000143442 129 0 0 40 16 28.5714 FCGR2A 0 genome.wustl.edu 37 1 161480730 161480730 + Silent SNP G G A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 1 161480730 161480730 G A SNP FCGR2A ENST00000271450 human ensembl 74_37 +1 known silent c.726 p.R242 0.003 NULL smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCGR2A HGNC ENSG00000143226 383 0 0 112 105 48.3871 TNN 0 genome.wustl.edu 37 1 175067563 175067563 + Missense_Mutation SNP G G A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 1 175067563 175067563 G A SNP TNN ENST00000239462 human ensembl 74_37 +1 known missense c.1951 p.V651M 0.002 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 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_Fibronectin_type3 - no_errors TNN HGNC ENSG00000120332 206 0 0 74 20 21.2766 HMCN1 0 genome.wustl.edu 37 1 186056429 186056429 + Nonsense_Mutation SNP G G T TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 1 186056429 186056429 G T SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known nonsense c.9127 p.E3043* 1.000 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors HMCN1 HGNC ENSG00000143341 176 0 0 28 84 75 HSPG2 0 genome.wustl.edu 37 1 22199882 22199882 + Missense_Mutation SNP C C G TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 1 22199882 22199882 C G SNP HSPG2 ENST00000374695 human ensembl 74_37 -1 known missense c.3779 p.G1260A 1.000 pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom,pfscan_EGF_laminin 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 309 0 0 96 58 37.6623 ADCK3 0 genome.wustl.edu 37 1 227165157 227165157 + Silent SNP C C T TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 1 227165157 227165157 C T SNP ADCK3 ENST00000366777 human ensembl 74_37 +1 known silent c.663 p.A221 0.639 NULL pfam_UbiB_dom,superfamily_Kinase-like_dom - no_errors ADCK3 HGNC ENSG00000163050 9 0 0 2 4 66.6667 WNT9A 0 genome.wustl.edu 37 1 228111927 228111927 + Missense_Mutation SNP C C A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 1 228111927 228111927 C A SNP WNT9A ENST00000272164 human ensembl 74_37 -1 known missense c.527 p.S176I 1.000 pfam_Wnt,smart_Wnt pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt9a - no_errors WNT9A HGNC ENSG00000143816 256 0 0 135 48 26.2295 OBSCN 0 genome.wustl.edu 37 1 228430947 228430947 + Missense_Mutation SNP C C G TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 1 228430947 228430947 C G SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known missense c.2993 p.A998G 0.015 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom 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 70 0 0 22 6 21.4286 CNKSR1 0 genome.wustl.edu 37 1 26515312 26515312 + Silent SNP T T G TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 1 26515312 26515312 T G SNP CNKSR1 ENST00000374253 human ensembl 74_37 +1 known silent c.1761 p.G587 0.350 NULL pfam_CRIC_domain_Chordata,pfam_Pleckstrin_homology,pfam_SAM_type1,superfamily_SAM/pointed,superfamily_PDZ,smart_SAM,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_SAM - no_errors CNKSR1 HGNC ENSG00000142675 214 0 0 75 25 25 ZMYM1 0 genome.wustl.edu 37 1 35570337 35570337 + Missense_Mutation SNP T T G TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 1 35570337 35570337 T G SNP ZMYM1 ENST00000359858 human ensembl 74_37 +1 novel missense c.774 p.F258L 0.122 pfam_Znf_MYM,smart_TRASH_dom pfam_Znf_MYM,pfam_HATC_dom_C,superfamily_RNaseH-like_dom,smart_TRASH_dom - no_errors ZMYM1 HGNC ENSG00000197056 73 0 0 42 3 6.66667 CAP1 0 genome.wustl.edu 37 1 40535894 40535894 + Missense_Mutation SNP A A T TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 1 40535894 40535894 A T SNP CAP1 ENST00000372792 human ensembl 74_37 +1 known missense c.1057 p.I353L 1.000 pfam_Adenylate_cyclase-assoc_CAP_C,superfamily_Adenylate_cyclase-assoc_CAP_C pfam_Adenylate_cyclase-assoc_CAP_N,pfam_Adenylate_cyclase-assoc_CAP_C,superfamily_Adenylate_cyclase-assoc_CAP_N,superfamily_Adenylate_cyclase-assoc_CAP_C,smart_CARP_motif - no_errors CAP1 HGNC ENSG00000131236 102 0 0 35 18 33.9623 SZT2 0 genome.wustl.edu 37 1 43904434 43904434 + Silent SNP C C T TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 1 43904434 43904434 C T SNP SZT2 ENST00000562955 human ensembl 74_37 +1 known silent c.6402 p.D2134 0.990 NULL NULL - no_errors SZT2 HGNC ENSG00000198198 86 0 0 19 14 42.4242 INSL5 0 genome.wustl.edu 37 1 67266854 67266854 + Missense_Mutation SNP G G C TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 1 67266854 67266854 G C SNP INSL5 ENST00000304526 human ensembl 74_37 -1 known missense c.51 p.I17M 0.000 superfamily_Insulin-like pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like - no_errors INSL5 HGNC ENSG00000172410 90 0 0 35 6 14.6341 LRRC7 0 genome.wustl.edu 37 1 70555456 70555456 + Missense_Mutation SNP G G A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 1 70555456 70555456 G A SNP LRRC7 ENST00000035383 human ensembl 74_37 +1 known missense c.4385 p.S1462N 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors LRRC7 HGNC ENSG00000033122 92 0 0 39 14 26.4151 CAMTA1 0 genome.wustl.edu 37 1 7737720 7737720 + Silent SNP G G A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 1 7737720 7737720 G A SNP CAMTA1 ENST00000303635 human ensembl 74_37 +1 known silent c.2841 p.S947 0.563 pfam_IPT,superfamily_Ig_E-set pfam_CG-1_dom,pfam_IPT,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS - no_errors CAMTA1 HGNC ENSG00000171735 187 0 0 55 27 32.9268 KLHL17 0 genome.wustl.edu 37 1 899515 899515 + Silent SNP C C T TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 1 899515 899515 C T SNP KLHL17 ENST00000338591 human ensembl 74_37 +1 known silent c.1473 p.Y491 0.375 pfam_Kelch_1,smart_Kelch_1,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 KLHL17 HGNC ENSG00000187961 230 0 0 69 38 35.514 HFM1 0 genome.wustl.edu 37 1 91784848 91784848 + Splice_Site SNP A A G TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 1 91784848 91784848 A G SNP HFM1 ENST00000370425 human ensembl 74_37 -1 known splice_site c.2680+2 e23+2 1.000 - - - no_errors HFM1 HGNC ENSG00000162669 107 0 0 24 45 65.2174 TMEM56 0 genome.wustl.edu 37 1 95639441 95639441 + Nonsense_Mutation SNP C C T TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 1 95639441 95639441 C T SNP TMEM56 ENST00000370203 human ensembl 74_37 +1 novel nonsense c.469 p.Q157* 1.000 pfam_TLC-dom,smart_TLC-dom,pfscan_TLC-dom pfam_TLC-dom,smart_TLC-dom,pfscan_TLC-dom - no_errors TMEM56 HGNC ENSG00000152078 120 0 0 49 26 34.6667 PDCD11 0 genome.wustl.edu 37 10 105172893 105172893 + Silent SNP C C T TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 10 105172893 105172893 C T SNP PDCD11 ENST00000369797 human ensembl 74_37 +1 known silent c.999 p.C333 0.002 superfamily_NA-bd_OB-fold,smart_RNA-binding_domain_S1,pfscan_Rbsml_prot_S1_RNA-bd_dom pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_Suf,superfamily_NA-bd_OB-fold,smart_RNA-binding_domain_S1,smart_HAT,pfscan_TPR-contain_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom,prints_Ribosomal_S1 - no_errors PDCD11 HGNC ENSG00000148843 136 0 0 73 25 25.5102 GPAM 0 genome.wustl.edu 37 10 113921450 113921450 + Missense_Mutation SNP C C A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 10 113921450 113921450 C A SNP GPAM ENST00000348367 human ensembl 74_37 -1 known missense c.1469 p.C490F 1.000 NULL pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase - no_errors GPAM HGNC ENSG00000119927 66 0 0 53 10 15.873 GPR26 0 genome.wustl.edu 37 10 125426323 125426323 + Missense_Mutation SNP G G A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 10 125426323 125426323 G A SNP GPR26 ENST00000284674 human ensembl 74_37 +1 known missense c.400 p.A134T 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR26 HGNC ENSG00000154478 30 0 0 12 6 33.3333 CAMK1D 0 genome.wustl.edu 37 10 12803037 12803037 + Silent SNP C C T TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 10 12803037 12803037 C T SNP CAMK1D ENST00000378847 human ensembl 74_37 +1 known silent c.390 p.D130 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 CAMK1D HGNC ENSG00000183049 112 0 0 60 18 23.0769 LRRC27 0 genome.wustl.edu 37 10 134165209 134165209 + Missense_Mutation SNP C C T TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 10 134165209 134165209 C T SNP LRRC27 ENST00000368613 human ensembl 74_37 +1 known missense c.1025 p.A342V 0.016 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC27 HGNC ENSG00000148814 220 0 0 67 22 24.7191 CUBN 0 genome.wustl.edu 37 10 17126401 17126401 + Missense_Mutation SNP A A C TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 10 17126401 17126401 A C SNP CUBN ENST00000377833 human ensembl 74_37 -1 known missense c.2170 p.L724V 0.813 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors CUBN HGNC ENSG00000107611 41 0 0 27 13 32.5 MYO3A 0 genome.wustl.edu 37 10 26463195 26463195 + Silent SNP G G A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 10 26463195 26463195 G A SNP MYO3A ENST00000265944 human ensembl 74_37 +1 known silent c.4002 p.R1334 0.002 superfamily_P-loop_NTPase pfam_Myosin_head_motor_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_dom,prints_Myosin_head_motor_dom - no_errors MYO3A HGNC ENSG00000095777 210 0 0 115 24 17.2662 TFAM 0 genome.wustl.edu 37 10 60150559 60150559 + Missense_Mutation SNP G G T TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 10 60150559 60150559 G T SNP TFAM ENST00000487519 human ensembl 74_37 +1 known missense c.476 p.R159L 0.975 pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors TFAM HGNC ENSG00000108064 98 0 0 38 12 24 PALD1 0 genome.wustl.edu 37 10 72294583 72294583 + Missense_Mutation SNP C C A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 10 72294583 72294583 C A SNP PALD1 ENST00000263563 human ensembl 74_37 +1 known missense c.1211 p.P404Q 0.000 NULL smart_Tyr_Pase_cat - no_errors PALD1 HGNC ENSG00000107719 19 0 0 17 6 26.087 SAMD8 0 genome.wustl.edu 37 10 76935972 76935972 + Missense_Mutation SNP A A T TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 10 76935972 76935972 A T SNP SAMD8 ENST00000372690 human ensembl 74_37 +1 known missense c.1130 p.E377V 1.000 NULL pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors SAMD8 HGNC ENSG00000156671 268 0 0 116 39 25.1613 TLL2 0 genome.wustl.edu 37 10 98192670 98192670 + Silent SNP G G A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 10 98192670 98192670 G A SNP TLL2 ENST00000357947 human ensembl 74_37 -1 known silent c.414 p.A138 0.000 pirsf_BMP_1/tolloid-like pirsf_BMP_1/tolloid-like,pfam_CUB_dom,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,smart_Peptidase_Metallo,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,prints_Peptidase_M12A,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors TLL2 HGNC ENSG00000095587 105 0 0 46 36 43.9024 RRP12 0 genome.wustl.edu 37 10 99116858 99116858 + Missense_Mutation SNP C C T TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 10 99116858 99116858 C T SNP RRP12 ENST00000370992 human ensembl 74_37 -1 known missense c.3887 p.R1296Q 0.006 NULL pfam_Uncharacterised_NUC173,superfamily_ARM-type_fold - no_errors RRP12 HGNC ENSG00000052749 123 0 0 48 16 25 RRP12 0 genome.wustl.edu 37 10 99133605 99133605 + Silent SNP G G A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 10 99133605 99133605 G A SNP RRP12 ENST00000370992 human ensembl 74_37 -1 known silent c.1845 p.Y615 0.985 pfam_Uncharacterised_NUC173,superfamily_ARM-type_fold pfam_Uncharacterised_NUC173,superfamily_ARM-type_fold - no_errors RRP12 HGNC ENSG00000052749 65 0 0 52 16 23.5294 BIRC2 0 genome.wustl.edu 37 11 102221160 102221160 + Missense_Mutation SNP A A G TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 11 102221160 102221160 A G SNP BIRC2 ENST00000227758 human ensembl 74_37 +1 known missense c.575 p.H192R 0.065 pfam_BIR,smart_BIR,pfscan_BIR pfam_BIR,pfam_CARD,superfamily_DEATH-like_dom,smart_BIR,smart_CARD,smart_Znf_RING,pfscan_CARD,pfscan_BIR,pfscan_Znf_RING - no_errors BIRC2 HGNC ENSG00000110330 245 0 0 61 27 30.6818 GRIA4 0 genome.wustl.edu 37 11 105795340 105795340 + Silent SNP A A C TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 11 105795340 105795340 A C SNP GRIA4 ENST00000282499 human ensembl 74_37 +1 known silent c.1692 p.L564 1.000 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIA4 HGNC ENSG00000152578 92 0 0 27 13 32.5 OR6M1 0 genome.wustl.edu 37 11 123676387 123676387 + Missense_Mutation SNP C C T TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 11 123676387 123676387 C T SNP OR6M1 ENST00000309154 human ensembl 74_37 -1 known missense c.671 p.R224H 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6M1 HGNC ENSG00000196099 90 0 0 23 15 39.4737 OR8D2 0 genome.wustl.edu 37 11 124189172 124189172 + Silent SNP T T G TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 11 124189172 124189172 T G SNP OR8D2 ENST00000357438 human ensembl 74_37 -1 known silent c.922 p.R308 0.002 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8D2 HGNC ENSG00000197263 111 0 0 36 15 29.4118 NELL1 0 genome.wustl.edu 37 11 21594756 21594756 + Missense_Mutation SNP T T G TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 11 21594756 21594756 T G SNP NELL1 ENST00000357134 human ensembl 74_37 +1 known missense c.2183 p.L728R 0.412 pfam_VWF_C,smart_VWC_out,smart_VWF_C,pfscan_VWF_C pfam_EGF-like_Ca-bd_dom,pfam_VWF_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_VWC_out,smart_VWF_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_VWF_C - no_errors NELL1 HGNC ENSG00000165973 121 0 0 51 9 15 OR51D1 0 genome.wustl.edu 37 11 4661487 4661487 + Missense_Mutation SNP A A T TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 11 4661487 4661487 A T SNP OR51D1 ENST00000357605 human ensembl 74_37 +1 known missense c.467 p.K156M 0.876 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51D1 HGNC ENSG00000197428 260 0 0 110 57 34.1317 TRIM49B 0 genome.wustl.edu 37 11 49053388 49053388 + Missense_Mutation SNP A A C TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 11 49053388 49053388 A C SNP TRIM49B ENST00000332682 human ensembl 74_37 +1 known missense c.237 p.K79N 0.941 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM49B HGNC ENSG00000182053 79 0 0 27 9 25 OR52J3 0 genome.wustl.edu 37 11 5068233 5068233 + Missense_Mutation SNP C C T TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 11 5068233 5068233 C T SNP OR52J3 ENST00000380370 human ensembl 74_37 +1 known missense c.478 p.P160S 0.040 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52J3 HGNC ENSG00000205495 105 0 0 38 11 22.449 OR8H3 0 genome.wustl.edu 37 11 55890577 55890577 + Silent SNP T T C TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 11 55890577 55890577 T C SNP OR8H3 ENST00000313472 human ensembl 74_37 +1 known silent c.729 p.S243 0.565 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 OR8H3 HGNC ENSG00000181761 172 0 0 32 21 39.6226 OR10W1 0 genome.wustl.edu 37 11 58034972 58034972 + Missense_Mutation SNP G G A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 11 58034972 58034972 G A SNP OR10W1 ENST00000395079 human ensembl 74_37 -1 known missense c.359 p.P120L 0.998 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 OR10W1 HGNC ENSG00000172772 77 0 0 23 15 39.4737 OR52E4 0 genome.wustl.edu 37 11 5905690 5905690 + Silent SNP T T C TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 11 5905690 5905690 T C SNP OR52E4 ENST00000316987 human ensembl 74_37 +1 known silent c.168 p.S56 0.955 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR52E4 HGNC ENSG00000180974 283 0 0 135 57 29.6875 CNGA4 0 genome.wustl.edu 37 11 6265440 6265440 + Missense_Mutation SNP A A C TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 11 6265440 6265440 A C SNP CNGA4 ENST00000379936 human ensembl 74_37 +1 known missense c.1529 p.K510T 1.000 NULL pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGA4 HGNC ENSG00000132259 101 0 0 39 13 25 ORAOV1 0 genome.wustl.edu 37 11 69488060 69488060 + Missense_Mutation SNP T T C TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 11 69488060 69488060 T C SNP ORAOV1 ENST00000279147 human ensembl 74_37 -1 known missense c.80 p.Y27C 0.854 pfam_Essential_protein_Yae1_N pfam_Essential_protein_Yae1_N - no_errors ORAOV1 HGNC ENSG00000149716 168 0 0 70 30 30 KLRD1 0 genome.wustl.edu 37 12 10462015 10462015 + Missense_Mutation SNP T T G TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 12 10462015 10462015 T G SNP KLRD1 ENST00000381908 human ensembl 74_37 +1 known missense c.36 p.I12M 0.417 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors KLRD1 HGNC ENSG00000134539 114 0 0 46 20 30.303 PTPN11 0 genome.wustl.edu 37 12 112892433 112892433 + Nonsense_Mutation SNP T T G TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 12 112892433 112892433 T G SNP PTPN11 ENST00000351677 human ensembl 74_37 +1 known nonsense c.591 p.Y197* 1.000 pfam_SH2,smart_SH2,pirsf_Tyr_Pase_non-rcpt_typ-6/11,pfscan_SH2,prints_SH2 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_SH2,smart_SH2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-6/11,pfscan_SH2,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_SH2 - no_errors PTPN11 HGNC ENSG00000179295 78 0 0 41 3 6.81818 P2RX2 0 genome.wustl.edu 37 12 133196330 133196330 + Nonsense_Mutation SNP C C A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 12 133196330 133196330 C A SNP P2RX2 ENST00000343948 human ensembl 74_37 +1 known nonsense c.375 p.C125* 1.000 pfam_P2X_purnocptor,tigrfam_P2X_purnocptor pfam_P2X_purnocptor,prints_P2X2_purnocptor,prints_P2X_purnocptor,tigrfam_P2X_purnocptor - no_errors P2RX2 HGNC ENSG00000187848 67 0 0 14 5 26.3158 PLCZ1 0 genome.wustl.edu 37 12 18841074 18841074 + Missense_Mutation SNP C C A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 12 18841074 18841074 C A SNP PLCZ1 ENST00000266505 human ensembl 74_37 -1 known missense c.1540 p.G514C 0.996 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_EF_hand_dom,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCZ1 HGNC ENSG00000139151 181 0 0 60 4 6.25 MIR920 0 genome.wustl.edu 37 12 24365393 24365393 + RNA SNP A A C TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 12 24365393 24365393 A C SNP MIR920 ENST00000401373 human ensembl 74_37 +1 known rna NULL NULL 0.012 - - - no_errors MIR920 HGNC ENSG00000216192 196 0 0 58 24 29.2683 KRT75 0 genome.wustl.edu 37 12 52822136 52822136 + Missense_Mutation SNP C C G TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 12 52822136 52822136 C G SNP KRT75 ENST00000252245 human ensembl 74_37 -1 known missense c.1286 p.R429P 0.997 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT75 HGNC ENSG00000170454 140 1 0.70922 33 29 46.7742 CEP290 0 genome.wustl.edu 37 12 88530428 88530428 + Missense_Mutation SNP T T C TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 12 88530428 88530428 T C SNP CEP290 ENST00000309041 human ensembl 74_37 -1 known missense c.433 p.N145D 1.000 NULL NULL - no_errors CEP290 HGNC ENSG00000198707 210 0 0 56 24 30 CLEC2D 0 genome.wustl.edu 37 12 9847417 9847417 + Missense_Mutation SNP A A G TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 12 9847417 9847417 A G SNP CLEC2D ENST00000290855 human ensembl 74_37 +1 known missense c.523 p.R175G 0.014 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 CLEC2D HGNC ENSG00000069493 92 0 0 36 15 29.4118 ATP8A2 0 genome.wustl.edu 37 13 26153950 26153950 + Missense_Mutation SNP G G T TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 13 26153950 26153950 G T SNP ATP8A2 ENST00000381655 human ensembl 74_37 +1 known missense c.1872 p.L624F 1.000 superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,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 ATP8A2 HGNC ENSG00000132932 157 1 0.632911 53 53 50 FREM2 0 genome.wustl.edu 37 13 39262883 39262883 + Silent SNP T T C TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 13 39262883 39262883 T C SNP FREM2 ENST00000280481 human ensembl 74_37 +1 known silent c.1402 p.L468 0.992 NULL pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM2 HGNC ENSG00000150893 104 0 0 47 10 17.5439 FREM2 0 genome.wustl.edu 37 13 39435669 39435669 + Missense_Mutation SNP A A C TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 13 39435669 39435669 A C SNP FREM2 ENST00000280481 human ensembl 74_37 +1 known missense c.7621 p.K2541Q 1.000 NULL pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM2 HGNC ENSG00000150893 114 0 0 76 20 20.8333 PCDH17 0 genome.wustl.edu 37 13 58208116 58208116 + Missense_Mutation SNP T T C TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 13 58208116 58208116 T C SNP PCDH17 ENST00000377918 human ensembl 74_37 +1 known missense c.1436 p.L479P 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH17 HGNC ENSG00000118946 74 0 0 25 5 16.6667 COMMD6 0 genome.wustl.edu 37 13 76111694 76111694 + RNA SNP G G C TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 13 76111694 76111694 G C SNP COMMD6 ENST00000471682 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors COMMD6 HGNC ENSG00000188243 20 0 0 2 7 77.7778 POTEG 0 genome.wustl.edu 37 14 19571357 19571357 + Missense_Mutation SNP T T C TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 14 19571357 19571357 T C SNP POTEG ENST00000409832 human ensembl 74_37 +1 known missense c.1136 p.L379S 0.021 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors POTEG HGNC ENSG00000222036 41 0 0 8 3 27.2727 CHD8 0 genome.wustl.edu 37 14 21861850 21861850 + Missense_Mutation SNP C C T TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 14 21861850 21861850 C T SNP CHD8 ENST00000399982 human ensembl 74_37 -1 known missense c.6104 p.R2035Q 0.989 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_BRK_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD8 HGNC ENSG00000100888 48 0 0 24 13 35.1351 BNIP3P1 0 genome.wustl.edu 37 14 28733788 28733788 + RNA SNP A A G TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 14 28733788 28733788 A G SNP BNIP3P1 ENST00000550043 human ensembl 74_37 +1 known rna NULL NULL 0.979 - - - no_errors BNIP3P1 HGNC ENSG00000197358 54 0 0 8 8 50 POMT2 0 genome.wustl.edu 37 14 77751348 77751348 + Silent SNP G G A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 14 77751348 77751348 G A SNP POMT2 ENST00000261534 human ensembl 74_37 -1 known silent c.1521 p.Y507 0.959 pfam_MIR_motif,superfamily_MIR_motif,smart_MIR_motif,pfscan_MIR_motif pfam_Glyco_trans_39,pfam_MIR_motif,superfamily_MIR_motif,smart_MIR_motif,pfscan_MIR_motif - no_errors POMT2 HGNC ENSG00000009830 78 0 0 26 8 23.5294 DNM1P47 0 genome.wustl.edu 37 15 102299958 102299958 + RNA SNP C C G TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 15 102299958 102299958 C G SNP DNM1P47 ENST00000561463 human ensembl 74_37 +1 known rna NULL NULL 0.996 - - - no_errors DNM1P47 HGNC ENSG00000259660 20 0 0 12 3 20 NDN 0 genome.wustl.edu 37 15 23932080 23932080 + Silent SNP C C T TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 15 23932080 23932080 C T SNP NDN ENST00000331837 human ensembl 74_37 -1 known silent c.285 p.P95 0.943 NULL pfam_MAGE,pfscan_MAGE - no_errors NDN HGNC ENSG00000182636 56 0 0 26 21 44.6809 CASC5 0 genome.wustl.edu 37 15 40914465 40914465 + Missense_Mutation SNP C C A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 15 40914465 40914465 C A SNP CASC5 ENST00000346991 human ensembl 74_37 +1 known missense c.2081 p.T694K 0.004 NULL NULL - no_errors CASC5 HGNC ENSG00000137812 171 1 0.581395 96 8 7.69231 GRAMD2 0 genome.wustl.edu 37 15 72455726 72455726 + Silent SNP C C T TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 15 72455726 72455726 C T SNP GRAMD2 ENST00000309731 human ensembl 74_37 -1 known silent c.837 p.P279 0.000 NULL pfam_GRAM,smart_GRAM - no_errors GRAMD2 HGNC ENSG00000175318 183 0 0 82 22 21.1538 GOLGA6D 0 genome.wustl.edu 37 15 75580704 75580704 + Missense_Mutation SNP G G C TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 15 75580704 75580704 G C SNP GOLGA6D ENST00000434739 human ensembl 74_37 +1 known missense c.563 p.R188T 0.998 NULL NULL - no_errors GOLGA6D HGNC ENSG00000140478 129 0 0 103 29 21.9697 SEMA4B 0 genome.wustl.edu 37 15 90771576 90771576 + Missense_Mutation SNP C C T TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 15 90771576 90771576 C T SNP SEMA4B ENST00000332496 human ensembl 74_37 +1 known missense c.2215 p.R739W 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 SEMA4B HGNC ENSG00000185033 35 0 0 24 5 17.2414 XPO6 0 genome.wustl.edu 37 16 28112970 28112970 + Missense_Mutation SNP C C T TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 16 28112970 28112970 C T SNP XPO6 ENST00000304658 human ensembl 74_37 -1 known missense c.3085 p.V1029M 1.000 superfamily_ARM-type_fold pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors XPO6 HGNC ENSG00000169180 77 0 0 35 9 20.4545 ZSCAN10 0 genome.wustl.edu 37 16 3139328 3139328 + Missense_Mutation SNP C C T TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 16 3139328 3139328 C T SNP ZSCAN10 ENST00000252463 human ensembl 74_37 -1 known missense c.1942 p.A648T 0.916 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN10 HGNC ENSG00000130182 92 0 0 22 16 42.1053 ZSCAN10 0 genome.wustl.edu 37 16 3140172 3140172 + Missense_Mutation SNP C C G TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 16 3140172 3140172 C G SNP ZSCAN10 ENST00000252463 human ensembl 74_37 -1 known missense c.1098 p.K366N 0.804 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN10 HGNC ENSG00000130182 199 0 0 35 27 43.5484 CORO7-PAM16 0 genome.wustl.edu 37 16 4411080 4411080 + Missense_Mutation SNP G G A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 16 4411080 4411080 G A SNP CORO7-PAM16 ENST00000572467 human ensembl 74_37 -1 known missense c.1781 p.T594M 0.823 pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_DUF1900,pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CORO7-PAM16 HGNC ENSG00000103426 96 0 0 41 10 19.6078 CDH8 0 genome.wustl.edu 37 16 61761004 61761004 + Silent SNP G G A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 16 61761004 61761004 G A SNP CDH8 ENST00000577390 human ensembl 74_37 -1 known silent c.1530 p.P510 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH8 HGNC ENSG00000150394 184 0 0 82 87 51.4793 CDH11 0 genome.wustl.edu 37 16 64981820 64981820 + Missense_Mutation SNP G G A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 16 64981820 64981820 G A SNP CDH11 ENST00000268603 human ensembl 74_37 -1 known missense c.2077 p.R693C 1.000 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH11 HGNC ENSG00000140937 261 0 0 154 46 23 WFIKKN1 0 genome.wustl.edu 37 16 683049 683049 + Silent SNP G G A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 16 683049 683049 G A SNP WFIKKN1 ENST00000319070 human ensembl 74_37 +1 known silent c.639 p.P213 0.363 pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Prot_inh_Kunz-m,pfam_Ig_I-set,pfam_Ig_V-set,pfam_WAP-type_4-diS_core,pfam_Kazal_dom,pfam_Immunoglobulin,pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,superfamily_Prot_inh_Kunz-m,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,smart_Ig_sub,smart_Ig_sub2,smart_Prot_inh_Kunz-m,pfscan_Netrin_domain,pfscan_Prot_inh_Kunz-m,pfscan_Ig-like_dom,prints_Prot_inh_Kunz-m - no_errors WFIKKN1 HGNC ENSG00000127578 76 0 0 41 13 24.0741 GAS8 0 genome.wustl.edu 37 16 90099328 90099328 + Missense_Mutation SNP G G A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 16 90099328 90099328 G A SNP GAS8 ENST00000268699 human ensembl 74_37 +1 known missense c.491 p.R164Q 0.998 NULL NULL - no_errors GAS8 HGNC ENSG00000141013 40 0 0 21 4 16 UBBP4 0 genome.wustl.edu 37 17 21731181 21731181 + Silent SNP C C T TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 17 21731181 21731181 C T SNP UBBP4 ENST00000578713 human ensembl 74_37 +1 putative silent c.483 p.T161 0.996 pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup,prints_Ubiquitin - no_errors UBBP4 HGNC ENSG00000263563 162 1 0.613497 20 17 45.9459 TNFAIP1 0 genome.wustl.edu 37 17 26671447 26671447 + Missense_Mutation SNP A A T TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 17 26671447 26671447 A T SNP TNFAIP1 ENST00000226225 human ensembl 74_37 +1 known missense c.772 p.T258S 1.000 NULL pfam_T1-type_BTB,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors TNFAIP1 HGNC ENSG00000109079 83 0 0 35 13 27.0833 CNTNAP1 0 genome.wustl.edu 37 17 40837321 40837321 + Missense_Mutation SNP G G A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 17 40837321 40837321 G A SNP CNTNAP1 ENST00000264638 human ensembl 74_37 +1 known missense c.598 p.A200T 0.997 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP1 HGNC ENSG00000108797 117 0 0 41 16 28.0702 AOC4P 0 genome.wustl.edu 37 17 41020639 41020639 + RNA SNP C C G TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 17 41020639 41020639 C G SNP AOC4P ENST00000562301 human ensembl 74_37 +1 known rna NULL NULL 0.060 - - - no_errors AOC4P HGNC ENSG00000260105 59 0 0 28 16 36.3636 QRICH2 0 genome.wustl.edu 37 17 74288944 74288944 + Missense_Mutation SNP A A G TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 17 74288944 74288944 A G SNP QRICH2 ENST00000262765 human ensembl 74_37 -1 known missense c.1366 p.W456R 0.000 NULL NULL - no_errors QRICH2 HGNC ENSG00000129646 70 0 0 27 6 18.1818 TP53 0 genome.wustl.edu 37 17 7578212 7578212 + Nonsense_Mutation SNP G G A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 17 7578212 7578212 G A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known nonsense c.637 p.R213* 0.893 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 92 0 0 20 13 39.3939 TMC8 0 genome.wustl.edu 37 17 76127802 76127802 + Missense_Mutation SNP G G A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 17 76127802 76127802 G A SNP TMC8 ENST00000318430 human ensembl 74_37 +1 known missense c.133 p.D45N 0.998 NULL pfam_TMC - no_errors TMC8 HGNC ENSG00000167895 18 0 0 2 3 60 CDH7 0 genome.wustl.edu 37 18 63530059 63530059 + Silent SNP A A G TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 18 63530059 63530059 A G SNP CDH7 ENST00000323011 human ensembl 74_37 +1 known silent c.1770 p.V590 0.001 smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH7 HGNC ENSG00000081138 61 0 0 16 5 23.8095 LAMA1 0 genome.wustl.edu 37 18 7043226 7043226 + Missense_Mutation SNP T T G TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 18 7043226 7043226 T G SNP LAMA1 ENST00000389658 human ensembl 74_37 -1 known missense c.1155 p.K385N 0.634 pfam_EGF_laminin,smart_EGF_laminin pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,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 LAMA1 HGNC ENSG00000101680 344 0 0 133 42 24 ZNF407 0 genome.wustl.edu 37 18 72346747 72346747 + Missense_Mutation SNP C C T TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 18 72346747 72346747 C T SNP ZNF407 ENST00000299687 human ensembl 74_37 +1 known missense c.3772 p.R1258C 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,smart_Znf_U1,pfscan_Znf_C2H2 - no_errors ZNF407 HGNC ENSG00000215421 76 0 0 25 6 19.3548 ATP9B 0 genome.wustl.edu 37 18 77096644 77096644 + Missense_Mutation SNP G G C TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 18 77096644 77096644 G C SNP ATP9B ENST00000426216 human ensembl 74_37 +1 known missense c.2045 p.R682P 0.832 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 ATP9B HGNC ENSG00000166377 69 0 0 7 15 68.1818 ZNF844 0 genome.wustl.edu 37 19 12187502 12187502 + Missense_Mutation SNP A A G TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 19 12187502 12187502 A G SNP ZNF844 ENST00000439326 human ensembl 74_37 +1 known missense c.1567 p.K523E 0.004 NULL pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF844 HGNC ENSG00000223547 74 0 0 37 4 9.7561 CHERP 0 genome.wustl.edu 37 19 16638979 16638979 + Missense_Mutation SNP C C T TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 19 16638979 16638979 C T SNP CHERP ENST00000546361 human ensembl 74_37 -1 known missense c.1217 p.R406Q 1.000 NULL pfam_Surp,pfam_G_patch_dom,pfam_RNA_pol_II-bd,superfamily_Surp,superfamily_ENTH_VHS,smart_Surp,smart_G_patch_dom,pfscan_Surp,pfscan_G_patch_dom - no_errors CHERP HGNC ENSG00000085872 175 0 0 26 38 59.375 NWD1 0 genome.wustl.edu 37 19 16860087 16860087 + Missense_Mutation SNP G G C TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 19 16860087 16860087 G C SNP NWD1 ENST00000379808 human ensembl 74_37 +1 known missense c.634 p.A212P 0.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NWD1 HGNC ENSG00000188039 162 1 0.613497 72 4 5.26316 MRPL34 0 genome.wustl.edu 37 19 17416747 17416747 + Missense_Mutation SNP G G C TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 19 17416747 17416747 G C SNP MRPL34 ENST00000252602 human ensembl 74_37 +1 known missense c.46 p.A16P 0.000 NULL pfam_Ribosomal_L34,tigrfam_Ribosomal_L34 - no_errors MRPL34 HGNC ENSG00000130312 170 0 0 26 30 53.5714 RPL18A 0 genome.wustl.edu 37 19 17972164 17972164 + Silent SNP C C A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 19 17972164 17972164 C A SNP RPL18A ENST00000222247 human ensembl 74_37 +1 known silent c.81 p.L27 0.945 pfam_Ribosomal_L18a/LX pfam_Ribosomal_L18a/LX - no_errors RPL18A HGNC ENSG00000105640 48 0 0 23 3 11.5385 CRTC1 0 genome.wustl.edu 37 19 18886480 18886480 + Silent SNP C C T TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 19 18886480 18886480 C T SNP CRTC1 ENST00000338797 human ensembl 74_37 +1 known silent c.1590 p.A530 0.993 NULL NULL - no_errors CRTC1 HGNC ENSG00000105662 74 0 0 49 5 9.25926 ZNF493 0 genome.wustl.edu 37 19 21606384 21606384 + Missense_Mutation SNP T T A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 19 21606384 21606384 T A SNP ZNF493 ENST00000355504 human ensembl 74_37 +1 known missense c.539 p.L180H 0.483 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF493 HGNC ENSG00000196268 123 1 0.806452 39 17 30.3571 ZNF43 0 genome.wustl.edu 37 19 22002007 22002007 + Missense_Mutation SNP A A G TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 19 22002007 22002007 A G SNP ZNF43 ENST00000354959 human ensembl 74_37 -1 known missense c.20 p.M7T 0.985 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box 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 ZNF43 HGNC ENSG00000198521 235 0 0 47 27 36.4865 ZNF208 0 genome.wustl.edu 37 19 22154953 22154953 + Missense_Mutation SNP A A C TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 19 22154953 22154953 A C SNP ZNF208 ENST00000397126 human ensembl 74_37 -1 novel missense c.2883 p.S961R 0.000 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 ZNF208 HGNC ENSG00000160321 49 0 0 13 4 23.5294 ZNF208 0 genome.wustl.edu 37 19 22156121 22156121 + Missense_Mutation SNP T T G TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 19 22156121 22156121 T G SNP ZNF208 ENST00000397126 human ensembl 74_37 -1 novel missense c.1715 p.K572T 0.001 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 ZNF208 HGNC ENSG00000160321 76 0 0 16 13 44.8276 TSHZ3 0 genome.wustl.edu 37 19 31768179 31768179 + Silent SNP G G A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 19 31768179 31768179 G A SNP TSHZ3 ENST00000240587 human ensembl 74_37 -1 known silent c.2520 p.R840 0.892 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors TSHZ3 HGNC ENSG00000121297 201 0 0 204 55 21.2355 C19orf55 0 genome.wustl.edu 37 19 36258765 36258765 + Missense_Mutation SNP G G A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 19 36258765 36258765 G A SNP C19orf55 ENST00000396908 human ensembl 74_37 +1 known missense c.1018 p.E340K 0.001 NULL NULL - no_errors C19orf55 HGNC ENSG00000167595 53 0 0 17 6 26.087 ZNF382 0 genome.wustl.edu 37 19 37117123 37117123 + Missense_Mutation SNP A A C TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 19 37117123 37117123 A C SNP ZNF382 ENST00000292928 human ensembl 74_37 +1 known missense c.324 p.K108N 0.287 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 ZNF382 HGNC ENSG00000161298 92 0 0 24 13 35.1351 ERF 0 genome.wustl.edu 37 19 42753425 42753425 + Missense_Mutation SNP G G A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 19 42753425 42753425 G A SNP ERF ENST00000222329 human ensembl 74_37 -1 known missense c.839 p.S280L 0.999 NULL pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ERF HGNC ENSG00000105722 19 0 0 3 7 70 ZNF229 0 genome.wustl.edu 37 19 44933212 44933212 + Missense_Mutation SNP G G A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 19 44933212 44933212 G A SNP ZNF229 ENST00000588931 human ensembl 74_37 -1 known missense c.1744 p.R582W 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF229 HGNC ENSG00000167383 152 0 0 67 18 21.1765 BCAT2 0 genome.wustl.edu 37 19 49310309 49310309 + Missense_Mutation SNP G G A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 19 49310309 49310309 G A SNP BCAT2 ENST00000316273 human ensembl 74_37 -1 known missense c.47 p.S16F 0.007 NULL pfam_Aminotrans_IV,superfamily_Aminotrans_IV,pirsf_B_amino_transII,tigrfam_B_amino_transII - no_errors BCAT2 HGNC ENSG00000105552 109 0 0 30 15 33.3333 KLK4 0 genome.wustl.edu 37 19 51411894 51411894 + Missense_Mutation SNP G G A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 19 51411894 51411894 G A SNP KLK4 ENST00000324041 human ensembl 74_37 -1 known missense c.416 p.S139L 0.002 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors KLK4 HGNC ENSG00000167749 140 0 0 35 16 31.3725 SIGLEC10 0 genome.wustl.edu 37 19 51920007 51920007 + Nonsense_Mutation SNP G G A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 19 51920007 51920007 G A SNP SIGLEC10 ENST00000339313 human ensembl 74_37 -1 known nonsense c.619 p.Q207* 0.930 pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIGLEC10 HGNC ENSG00000142512 77 0 0 23 12 34.2857 ZSCAN18 0 genome.wustl.edu 37 19 58600106 58600106 + Missense_Mutation SNP T T G TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 19 58600106 58600106 T G SNP ZSCAN18 ENST00000600404 human ensembl 74_37 -1 known missense c.670 p.S224R 0.020 NULL pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN18 HGNC ENSG00000121413 121 0 0 35 27 43.5484 MYO1F 0 genome.wustl.edu 37 19 8642205 8642205 + RNA SNP G G T TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 19 8642205 8642205 G T SNP MYO1F ENST00000595046 human ensembl 74_37 -1 known rna NULL NULL 0.026 - - - no_errors MYO1F HGNC ENSG00000142347 51 0 0 19 2 9.52381 MUC16 0 genome.wustl.edu 37 19 9059857 9059857 + Missense_Mutation SNP T T A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 19 9059857 9059857 T A SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.27589 p.T9197S 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 161 0 0 106 39 26.8966 MUC16 0 genome.wustl.edu 37 19 9072191 9072191 + Silent SNP T T G TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 19 9072191 9072191 T G SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known silent c.15255 p.T5085 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 251 0 0 116 77 39.8964 MUC16 0 genome.wustl.edu 37 19 9073279 9073279 + Missense_Mutation SNP C C A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 19 9073279 9073279 C A SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.14167 p.A4723S 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 260 0 0 138 32 18.8235 TAF1B 0 genome.wustl.edu 37 2 10059894 10059894 + Missense_Mutation SNP T T G TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 2 10059894 10059894 T G SNP TAF1B ENST00000263663 human ensembl 74_37 +1 known missense c.1510 p.S504A 0.095 NULL pfam_TF_Rrn7 - no_errors TAF1B HGNC ENSG00000115750 76 0 0 15 14 48.2759 TGFBRAP1 0 genome.wustl.edu 37 2 105924384 105924384 + Silent SNP G G A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 2 105924384 105924384 G A SNP TGFBRAP1 ENST00000258449 human ensembl 74_37 -1 known silent c.375 p.N125 0.940 pfam_Citron pfam_VPS39/TGF_beta_rcpt-assoc_2,pfam_VPS39/TGF_beta_rcpt-assoc_1,pfam_Clathrin_H-chain/VPS_repeat,pfam_Citron - no_errors TGFBRAP1 HGNC ENSG00000135966 249 0 0 75 37 33.0357 C2orf40 0 genome.wustl.edu 37 2 106694260 106694260 + Nonsense_Mutation SNP C C T TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 2 106694260 106694260 C T SNP C2orf40 ENST00000238044 human ensembl 74_37 +1 known nonsense c.325 p.R109* 0.133 NULL NULL - no_errors C2orf40 HGNC ENSG00000119147 155 1 0.641026 93 23 19.8276 CNTNAP5 0 genome.wustl.edu 37 2 125262112 125262112 + Missense_Mutation SNP C C T TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 2 125262112 125262112 C T SNP CNTNAP5 ENST00000431078 human ensembl 74_37 +1 known missense c.1303 p.R435C 0.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP5 HGNC ENSG00000155052 74 0 0 28 11 28.2051 LRP1B 0 genome.wustl.edu 37 2 141108422 141108422 + Missense_Mutation SNP T T C TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 2 141108422 141108422 T C SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.11836 p.I3946V 0.986 superfamily_Growth_fac_rcpt_N_dom pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 97 0 0 55 7 11.2903 ZEB2 0 genome.wustl.edu 37 2 145156170 145156170 + Silent SNP A A G TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 2 145156170 145156170 A G SNP ZEB2 ENST00000303660 human ensembl 74_37 -1 known silent c.2584 p.L862 1.000 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZEB2 HGNC ENSG00000169554 172 0 0 52 18 25.7143 ZEB2 0 genome.wustl.edu 37 2 145274932 145274932 + RNA SNP C C T TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 2 145274932 145274932 C T SNP ZEB2 ENST00000434448 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors ZEB2 HGNC ENSG00000169554 90 0 0 64 21 24.7059 RBM43 0 genome.wustl.edu 37 2 152107515 152107515 + Missense_Mutation SNP G G A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 2 152107515 152107515 G A SNP RBM43 ENST00000331426 human ensembl 74_37 -1 known missense c.979 p.L327F 0.000 NULL pfscan_RRM_dom - no_errors RBM43 HGNC ENSG00000184898 137 0 0 65 22 25.2874 SCN1A 0 genome.wustl.edu 37 2 166901827 166901827 + Missense_Mutation SNP G G A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 2 166901827 166901827 G A SNP SCN1A ENST00000303395 human ensembl 74_37 -1 known missense c.1388 p.T463M 0.871 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 151 0 0 47 25 34.7222 GAD1 0 genome.wustl.edu 37 2 171687619 171687619 + Missense_Mutation SNP A A C TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 2 171687619 171687619 A C SNP GAD1 ENST00000358196 human ensembl 74_37 +1 known missense c.464 p.N155T 1.000 pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase pfam_PyrdxlP-dep_de-COase,pfam_Aminotrans_V/Cys_dSase,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase - no_errors GAD1 HGNC ENSG00000128683 158 0 0 85 38 30.8943 TTN 0 genome.wustl.edu 37 2 179578722 179578722 + Missense_Mutation SNP T T G TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 2 179578722 179578722 T G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.22931 p.K7644T 1.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,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 67 0 0 21 10 32.2581 TTN 0 genome.wustl.edu 37 2 179604456 179604456 + Missense_Mutation SNP T T G TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 2 179604456 179604456 T G SNP TTN ENST00000342175 human ensembl 74_37 -1 known missense c.12991 p.S4331R 0.000 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 380 0 0 139 61 30.5 ZNF804A 0 genome.wustl.edu 37 2 185803437 185803437 + Missense_Mutation SNP A A T TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 2 185803437 185803437 A T SNP ZNF804A ENST00000302277 human ensembl 74_37 +1 known missense c.3314 p.Q1105L 1.000 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804A HGNC ENSG00000170396 141 0 0 52 9 14.7541 ITGAV 0 genome.wustl.edu 37 2 187466848 187466848 + Missense_Mutation SNP C C T TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 2 187466848 187466848 C T SNP ITGAV ENST00000261023 human ensembl 74_37 +1 known missense c.286 p.R96W 0.001 smart_Int_alpha_beta-p pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGAV HGNC ENSG00000138448 83 0 0 31 13 29.5455 AOX1 0 genome.wustl.edu 37 2 201485953 201485953 + Missense_Mutation SNP T T C TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 2 201485953 201485953 T C SNP AOX1 ENST00000374700 human ensembl 74_37 +1 known missense c.1985 p.F662S 0.246 pfam_Ald_Oxase/Xan_DH_a/b,superfamily_Ald_Oxase/Xan_DH_a/b,pirsf_Ald_Oxase/xanthine_DH,tigrfam_Aldehyde_oxidase pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Aldehyde_oxidase - no_errors AOX1 HGNC ENSG00000138356 133 0 0 57 20 25.974 MAP2 0 genome.wustl.edu 37 2 210559838 210559838 + Missense_Mutation SNP G G C TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 2 210559838 210559838 G C SNP MAP2 ENST00000360351 human ensembl 74_37 +1 known missense c.2944 p.E982Q 0.937 pfam_MAP2_projctn pfam_MAP2_projctn,pfam_MAP_tubulin-bd_rpt - no_errors MAP2 HGNC ENSG00000078018 154 0 0 58 16 21.6216 ERBB4 0 genome.wustl.edu 37 2 212248599 212248599 + Missense_Mutation SNP T T G TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 2 212248599 212248599 T G SNP ERBB4 ENST00000342788 human ensembl 74_37 -1 known missense c.3668 p.K1223T 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ERBB4 HGNC ENSG00000178568 307 0 0 158 55 25.8216 VWC2L 0 genome.wustl.edu 37 2 215440504 215440504 + Missense_Mutation SNP A A C TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 2 215440504 215440504 A C SNP VWC2L ENST00000312504 human ensembl 74_37 +1 known missense c.629 p.Q210P 1.000 NULL smart_VWF_C,pfscan_VWF_C - no_errors VWC2L HGNC ENSG00000174453 329 0 0 168 41 19.6172 COL4A4 0 genome.wustl.edu 37 2 227896700 227896700 + Missense_Mutation SNP G G A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 2 227896700 227896700 G A SNP COL4A4 ENST00000396625 human ensembl 74_37 -1 known missense c.3778 p.P1260S 0.462 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A4 HGNC ENSG00000081052 54 0 0 10 7 41.1765 C2orf16 0 genome.wustl.edu 37 2 27801239 27801239 + Silent SNP C C T TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 2 27801239 27801239 C T SNP C2orf16 ENST00000408964 human ensembl 74_37 +1 known silent c.1800 p.I600 0.047 NULL NULL - no_errors C2orf16 HGNC ENSG00000221843 74 0 0 21 3 12.5 DNAH6 0 genome.wustl.edu 37 2 84800599 84800599 + Missense_Mutation SNP T T G TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 2 84800599 84800599 T G SNP DNAH6 ENST00000237449 human ensembl 74_37 +1 known missense c.1812 p.I604M 0.932 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH6 HGNC ENSG00000115423 137 0 0 42 10 19.2308 ESF1 0 genome.wustl.edu 37 20 13756707 13756707 + Missense_Mutation SNP C C T TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 20 13756707 13756707 C T SNP ESF1 ENST00000202816 human ensembl 74_37 -1 known missense c.847 p.E283K 0.146 NULL pfam_NUC153 - no_errors ESF1 HGNC ENSG00000089048 151 0 0 77 27 25.9615 PTPRA 0 genome.wustl.edu 37 20 2988067 2988067 + Splice_Site SNP G G A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 20 2988067 2988067 G A SNP PTPRA ENST00000425918 human ensembl 74_37 +1 known splice_site c.939+1 e9+1 1.000 - - - no_errors PTPRA HGNC ENSG00000132670 127 0 0 143 26 15.3846 LZTS3 0 genome.wustl.edu 37 20 3146426 3146426 + Missense_Mutation SNP G G A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 20 3146426 3146426 G A SNP LZTS3 ENST00000329152 human ensembl 74_37 -1 known missense c.1040 p.A347V 1.000 NULL NULL - no_errors LZTS3 Uniprot_gn ENSG00000088899 20 0 0 6 3 33.3333 MYH7B 0 genome.wustl.edu 37 20 33577664 33577664 + Missense_Mutation SNP G G A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 20 33577664 33577664 G A SNP MYH7B ENST00000262873 human ensembl 74_37 +1 novel missense c.1835 p.R612Q 0.988 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Myosin_S1_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7B HGNC ENSG00000078814 95 0 0 74 11 12.9412 EDEM2 0 genome.wustl.edu 37 20 33706370 33706370 + Missense_Mutation SNP T T C TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 20 33706370 33706370 T C SNP EDEM2 ENST00000540582 human ensembl 74_37 -1 known missense c.1144 p.K382E 0.000 NULL pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 - no_errors EDEM2 HGNC ENSG00000088298 58 0 0 27 21 43.75 LBP 0 genome.wustl.edu 37 20 36978001 36978001 + Missense_Mutation SNP C C A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 20 36978001 36978001 C A SNP LBP ENST00000217407 human ensembl 74_37 +1 known missense c.175 p.L59M 0.961 pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N pfam_Lipid-bd_serum_glycop_C,pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C - no_errors LBP HGNC ENSG00000129988 34 0 0 33 5 13.1579 LPIN3 0 genome.wustl.edu 37 20 39977772 39977772 + Missense_Mutation SNP A A G TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 20 39977772 39977772 A G SNP LPIN3 ENST00000373257 human ensembl 74_37 +1 known missense c.598 p.I200V 1.000 NULL pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,smart_LNS2 - no_errors LPIN3 HGNC ENSG00000132793 235 1 0.423729 205 29 12.3932 CSTF1 0 genome.wustl.edu 37 20 54970640 54970640 + Missense_Mutation SNP G G A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 20 54970640 54970640 G A SNP CSTF1 ENST00000217109 human ensembl 74_37 +1 known missense c.32 p.R11H 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CSTF1 HGNC ENSG00000101138 77 0 0 45 7 13.4615 ZNF831 0 genome.wustl.edu 37 20 57766527 57766527 + Silent SNP C C T TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 20 57766527 57766527 C T SNP ZNF831 ENST00000371030 human ensembl 74_37 +1 novel silent c.453 p.R151 0.983 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF831 HGNC ENSG00000124203 288 0 0 188 83 30.6273 COL20A1 0 genome.wustl.edu 37 20 61958163 61958163 + Silent SNP C C T TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 20 61958163 61958163 C T SNP COL20A1 ENST00000326996 human ensembl 74_37 +1 known silent c.3612 p.T1204 0.001 pfam_Collagen pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL20A1 HGNC ENSG00000101203 15 0 0 13 5 27.7778 ADAMTS5 0 genome.wustl.edu 37 21 28338124 28338124 + Missense_Mutation SNP T T C TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 21 28338124 28338124 T C SNP ADAMTS5 ENST00000284987 human ensembl 74_37 -1 known missense c.587 p.E196G 0.999 prints_Pept_M12B_ADAM-TS5 pfam_ADAM_spacer1,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS5,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS5 HGNC ENSG00000154736 26 0 0 6 6 50 ADAMTS5 0 genome.wustl.edu 37 21 28338580 28338580 + Missense_Mutation SNP C C T TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 21 28338580 28338580 C T SNP ADAMTS5 ENST00000284987 human ensembl 74_37 -1 known missense c.131 p.R44H 0.950 pfam_Peptidase_M12B_N pfam_ADAM_spacer1,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS5,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS5 HGNC ENSG00000154736 32 0 0 8 3 27.2727 SMC1B 0 genome.wustl.edu 37 22 45767386 45767386 + Nonsense_Mutation SNP G G A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 22 45767386 45767386 G A SNP SMC1B ENST00000357450 human ensembl 74_37 -1 known nonsense c.2278 p.R760* 0.059 pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,superfamily_t-SNARE,smart_SMC_hinge - no_errors SMC1B HGNC ENSG00000077935 90 0 0 28 10 26.3158 ATP2B2 0 genome.wustl.edu 37 3 10442664 10442664 + Missense_Mutation SNP C C T TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 3 10442664 10442664 C T SNP ATP2B2 ENST00000352432 human ensembl 74_37 -1 known missense c.754 p.V252M 1.000 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2B2 HGNC ENSG00000157087 119 0 0 64 18 21.9512 SLC25A36 0 genome.wustl.edu 37 3 140692763 140692763 + Missense_Mutation SNP G G A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 3 140692763 140692763 G A SNP SLC25A36 ENST00000324194 human ensembl 74_37 +1 known missense c.658 p.V220M 0.919 superfamily_Mt_carrier_dom pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Mit_uncoupling - no_errors SLC25A36 HGNC ENSG00000114120 91 0 0 28 12 30 SI 0 genome.wustl.edu 37 3 164709261 164709261 + Missense_Mutation SNP T T G TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 3 164709261 164709261 T G SNP SI ENST00000264382 human ensembl 74_37 -1 known missense c.4988 p.K1663T 0.000 pfam_Glyco_hydro_31 pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil - no_errors SI HGNC ENSG00000090402 122 0 0 27 6 18.1818 KCNMB2 0 genome.wustl.edu 37 3 178546118 178546118 + Missense_Mutation SNP T T G TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 3 178546118 178546118 T G SNP KCNMB2 ENST00000358316 human ensembl 74_37 +1 known missense c.380 p.L127R 0.998 pfam_K_chnl_Ca-activ_BK_bsu,prints_K_chnl_Ca-activ_BK_bsu pfam_K_chnl_Ca-activ_BK_bsu,pfam_KCNMB2_ball_chain_dom,prints_K_chnl_Ca-activ_BK_bsu - no_errors KCNMB2 HGNC ENSG00000197584 65 0 0 30 7 18.9189 ECE2 0 genome.wustl.edu 37 3 184009886 184009886 + Missense_Mutation SNP G G A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 3 184009886 184009886 G A SNP ECE2 ENST00000402825 human ensembl 74_37 +1 known missense c.2512 p.E838K 1.000 pfam_Peptidase_M13_C pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,pfam_Methyltransf_11,prints_Peptidase_M13_C - no_errors ECE2 HGNC ENSG00000145194 87 0 0 27 10 27.027 TMEM44 0 genome.wustl.edu 37 3 194331653 194331653 + Missense_Mutation SNP C C A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 3 194331653 194331653 C A SNP TMEM44 ENST00000392432 human ensembl 74_37 -1 known missense c.1150 p.V384L 0.721 NULL NULL - no_errors TMEM44 HGNC ENSG00000145014 26 0 0 15 10 40 MFI2 0 genome.wustl.edu 37 3 196746591 196746591 + Missense_Mutation SNP G G A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 3 196746591 196746591 G A SNP MFI2 ENST00000296351 human ensembl 74_37 -1 known missense c.794 p.T265M 0.000 smart_Transferrin_fam pfam_Transferrin_fam,smart_Transferrin_fam,prints_Transferrin_fam - no_errors MFI2 HGNC ENSG00000163975 170 0 0 56 20 26.3158 LOC220729 0 genome.wustl.edu 37 3 197348668 197348668 + RNA SNP C C G TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 3 197348668 197348668 C G SNP LOC220729 ENST00000414207 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors AC024560.3 Clone_based_vega_gene ENSG00000214135 208 2 0.952381 73 4 5.19481 LIMD1 0 genome.wustl.edu 37 3 45677682 45677682 + Silent SNP C C G TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 3 45677682 45677682 C G SNP LIMD1 ENST00000273317 human ensembl 74_37 +1 known silent c.1449 p.G483 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LIMD1 HGNC ENSG00000144791 506 0 0 176 77 30.4348 P4HTM 0 genome.wustl.edu 37 3 49042339 49042339 + Missense_Mutation SNP C C G TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 3 49042339 49042339 C G SNP P4HTM ENST00000343546 human ensembl 74_37 +1 known missense c.933 p.S311R 0.096 smart_Pro_4_hyd_alph pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors P4HTM HGNC ENSG00000178467 168 0 0 54 14 20.5882 FAM212A 0 genome.wustl.edu 37 3 49842272 49842272 + Missense_Mutation SNP G G A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 3 49842272 49842272 G A SNP FAM212A ENST00000333323 human ensembl 74_37 +1 known missense c.716 p.R239K 1.000 NULL NULL - no_errors FAM212A HGNC ENSG00000185614 272 1 0.3663 68 34 33.3333 BHLHE40 0 genome.wustl.edu 37 3 5025133 5025133 + Missense_Mutation SNP C C T TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 3 5025133 5025133 C T SNP BHLHE40 ENST00000256495 human ensembl 74_37 +1 known missense c.995 p.A332V 1.000 NULL pfam_bHLH_dom,pfam_Orange,superfamily_bHLH_dom,smart_bHLH_dom,smart_Orange_subgr,pfscan_Orange,pfscan_bHLH_dom - no_errors BHLHE40 HGNC ENSG00000134107 175 1 0.568182 57 21 26.9231 MAGI1 0 genome.wustl.edu 37 3 65344795 65344795 + Silent SNP T T G TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 3 65344795 65344795 T G SNP MAGI1 ENST00000330909 human ensembl 74_37 -1 known silent c.3751 p.R1251 1.000 NULL pfam_PDZ,pfam_WW_dom,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_PDZ,smart_GK/Ca_channel_bsu,smart_WW_dom,pfscan_PDZ,pfscan_WW_dom,pfscan_Guanylate_kin-like - no_errors MAGI1 HGNC ENSG00000151276 402 0 0 87 44 33.5878 ST3GAL6 0 genome.wustl.edu 37 3 98489735 98489735 + Silent SNP G G A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 3 98489735 98489735 G A SNP ST3GAL6 ENST00000394162 human ensembl 74_37 +1 known silent c.102 p.V34 0.985 pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST3GAL6 HGNC ENSG00000064225 124 0 0 38 15 28.3019 CMSS1 0 genome.wustl.edu 37 3 99895188 99895188 + Missense_Mutation SNP C C A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 3 99895188 99895188 C A SNP CMSS1 ENST00000421999 human ensembl 74_37 +1 known missense c.685 p.P229T 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase - no_errors CMSS1 HGNC ENSG00000184220 95 0 0 13 2 13.3333 FSTL5 0 genome.wustl.edu 37 4 162307513 162307513 + Missense_Mutation SNP C C A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 4 162307513 162307513 C A SNP FSTL5 ENST00000306100 human ensembl 74_37 -1 known missense c.1930 p.D644Y 1.000 NULL pfam_Ig_I-set,pfam_Kazal_dom,pfam_Ig_V-set,smart_Kazal_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_hand_dom,pfscan_Ig-like_dom - no_errors FSTL5 HGNC ENSG00000168843 70 0 0 26 21 44.6809 GALNTL6 0 genome.wustl.edu 37 4 173730599 173730599 + Missense_Mutation SNP G G A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 4 173730599 173730599 G A SNP GALNTL6 ENST00000506823 human ensembl 74_37 +1 known missense c.641 p.R214Q 1.000 pfam_Glyco_trans_2 pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNTL6 HGNC ENSG00000174473 130 0 0 28 16 36.3636 GALNT7 0 genome.wustl.edu 37 4 174089995 174089995 + Silent SNP G G A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 4 174089995 174089995 G A SNP GALNT7 ENST00000265000 human ensembl 74_37 +1 known silent c.9 p.L3 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 GALNT7 HGNC ENSG00000109586 67 0 0 23 2 8 FRG1 0 genome.wustl.edu 37 4 190878615 190878615 + Missense_Mutation SNP A A G TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 4 190878615 190878615 A G SNP FRG1 ENST00000226798 human ensembl 74_37 +1 known missense c.495 p.I165M 1.000 pfam_FRG1,superfamily_Actin_cross-linking pfam_FRG1,pfam_Fascin-domain,superfamily_Actin_cross-linking - no_errors FRG1 HGNC ENSG00000109536 126 0 0 52 3 5.45455 RGS12 0 genome.wustl.edu 37 4 3318204 3318204 + Missense_Mutation SNP G G A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 4 3318204 3318204 G A SNP RGS12 ENST00000344733 human ensembl 74_37 +1 known missense c.307 p.E103K 0.966 superfamily_PDZ pfam_Raf-like_ras-bd,pfam_RGS_dom,pfam_PDZ,pfam_GoLoco_motif,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_PTB/PI_dom,smart_Regulat_G_prot_signal_superfam,smart_Raf-like_ras-bd,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_PDZ,pfscan_PTB/PI_dom,pfscan_Raf-like_ras-bd,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS12 HGNC ENSG00000159788 142 0 0 19 14 42.4242 LOC401127 0 genome.wustl.edu 37 4 39482110 39482110 + RNA SNP G G A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 4 39482110 39482110 G A SNP LOC401127 ENST00000513652 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-472B18.1 Clone_based_vega_gene ENSG00000224097 65 0 0 14 3 17.6471 FRYL 0 genome.wustl.edu 37 4 48592824 48592824 + Silent SNP G G A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 4 48592824 48592824 G A SNP FRYL ENST00000358350 human ensembl 74_37 -1 known silent c.1359 p.V453 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FRYL HGNC ENSG00000075539 154 0 0 58 8 12.1212 STK32B 0 genome.wustl.edu 37 4 5468557 5468557 + Missense_Mutation SNP C C T TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 4 5468557 5468557 C T SNP STK32B ENST00000282908 human ensembl 74_37 +1 known missense c.1037 p.P346L 0.983 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors STK32B HGNC ENSG00000152953 110 0 0 40 3 6.97674 MAPK10 0 genome.wustl.edu 37 4 87028500 87028500 + Missense_Mutation SNP G G A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 4 87028500 87028500 G A SNP MAPK10 ENST00000359221 human ensembl 74_37 -1 known missense c.242 p.A81V 0.999 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,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_MAPK_JNK,pfscan_Prot_kinase_dom - no_errors MAPK10 HGNC ENSG00000109339 85 0 0 24 4 14.2857 APC 0 genome.wustl.edu 37 5 112151261 112151261 + Nonsense_Mutation SNP C C T TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 5 112151261 112151261 C T SNP APC ENST00000257430 human ensembl 74_37 +1 known nonsense c.904 p.R302* 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 98 0 0 28 11 28.2051 ZNF474 0 genome.wustl.edu 37 5 121488479 121488479 + Missense_Mutation SNP A A C TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 5 121488479 121488479 A C SNP ZNF474 ENST00000296600 human ensembl 74_37 +1 known missense c.794 p.K265T 1.000 NULL pfscan_Znf_C2H2 - no_errors ZNF474 HGNC ENSG00000164185 123 0 0 20 13 39.3939 SLC12A2 0 genome.wustl.edu 37 5 127510310 127510310 + Missense_Mutation SNP G G T TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 5 127510310 127510310 G T SNP SLC12A2 ENST00000262461 human ensembl 74_37 +1 known missense c.2881 p.D961Y 0.982 tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,pfam_AA_permease_N,prints_Na/K/Cl_cotranspt1,prints_Na/K/Cl_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A2 HGNC ENSG00000064651 81 0 0 17 9 34.6154 BRD8 0 genome.wustl.edu 37 5 137503739 137503739 + Missense_Mutation SNP G G A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 5 137503739 137503739 G A SNP BRD8 ENST00000254900 human ensembl 74_37 -1 known missense c.671 p.S224F 1.000 NULL pfam_Bromodomain,superfamily_Bromodomain,superfamily_Peptidase_M20_dimer,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD8 HGNC ENSG00000112983 196 0 0 47 21 30.8824 ENSG00000255622 0 genome.wustl.edu 37 5 140536961 140536961 + Missense_Mutation SNP G G A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 5 140536961 140536961 G A SNP ENSG00000255622 ENST00000539533 human ensembl 74_37 +1 known missense c.1385 p.R462H 0.004 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB17 Uniprot_gn ENSG00000255622 353 0 0 51 52 50.4854 PCDHGB8P 0 genome.wustl.edu 37 5 140807341 140807341 + RNA SNP G G A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 5 140807341 140807341 G A SNP PCDHGB8P ENST00000502926 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors PCDHGB8P HGNC ENSG00000248449 44 0 0 9 5 35.7143 PCDHGB8P 0 genome.wustl.edu 37 5 140807358 140807358 + RNA SNP G G A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 5 140807358 140807358 G A SNP PCDHGB8P ENST00000502926 human ensembl 74_37 +1 known rna NULL NULL 0.992 - - - no_errors PCDHGB8P HGNC ENSG00000248449 45 0 0 13 2 13.3333 TRIO 0 genome.wustl.edu 37 5 14504649 14504649 + Silent SNP C C T TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 5 14504649 14504649 C T SNP TRIO ENST00000344204 human ensembl 74_37 +1 known silent c.8559 p.V2853 0.000 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_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,superfamily_Capsid/spike_ssDNA_virus,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors TRIO HGNC ENSG00000038382 514 0 0 172 109 38.79 KIAA1191 0 genome.wustl.edu 37 5 175786552 175786552 + RNA SNP C C T TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 5 175786552 175786552 C T SNP KIAA1191 ENST00000506613 human ensembl 74_37 -1 known rna NULL NULL 0.064 - - - no_errors KIAA1191 HGNC ENSG00000122203 102 0 0 12 7 36.8421 IL7R 0 genome.wustl.edu 37 5 35876425 35876425 + Missense_Mutation SNP T T G TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 5 35876425 35876425 T G SNP IL7R ENST00000303115 human ensembl 74_37 +1 known missense c.1217 p.L406R 0.002 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3 - no_errors IL7R HGNC ENSG00000168685 111 0 0 149 13 8.02469 IRX1 0 genome.wustl.edu 37 5 3599410 3599410 + Silent SNP T T G TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 5 3599410 3599410 T G SNP IRX1 ENST00000302006 human ensembl 74_37 +1 known silent c.348 p.A116 1.000 superfamily_Homeodomain-like pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom - no_errors IRX1 HGNC ENSG00000170549 110 0 0 42 17 28.8136 GDNF 0 genome.wustl.edu 37 5 37834914 37834914 + Silent SNP G G A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 5 37834914 37834914 G A SNP GDNF ENST00000427982 human ensembl 74_37 -1 putative silent c.36 p.A12 1.000 NULL pfam_TGF-b_C,smart_TGF-b_C,pirsf_GDNF - no_errors GDNF HGNC ENSG00000168621 87 0 0 97 8 7.61905 HCN1 0 genome.wustl.edu 37 5 45645353 45645353 + Missense_Mutation SNP T T G TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 5 45645353 45645353 T G SNP HCN1 ENST00000303230 human ensembl 74_37 -1 known missense c.783 p.K261N 1.000 pfam_Ion_trans_dom pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG - no_errors HCN1 HGNC ENSG00000164588 69 0 0 27 17 38.6364 ADAMTS16 0 genome.wustl.edu 37 5 5239336 5239336 + Missense_Mutation SNP T T C TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 5 5239336 5239336 T C SNP ADAMTS16 ENST00000274181 human ensembl 74_37 +1 known missense c.2227 p.S743P 1.000 prints_Peptidase_M12B_ADAM-TS pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS16 HGNC ENSG00000145536 286 0 0 83 119 58.9109 ASCC3 0 genome.wustl.edu 37 6 100960674 100960674 + Nonsense_Mutation SNP G G A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 6 100960674 100960674 G A SNP ASCC3 ENST00000369162 human ensembl 74_37 -1 known nonsense c.6196 p.R2066* 1.000 pfam_Sec63-dom,smart_Sec63-dom pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_AAA+_ATPase,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ASCC3 HGNC ENSG00000112249 163 0 0 85 15 15 FIG4 0 genome.wustl.edu 37 6 110064385 110064385 + Missense_Mutation SNP A A C TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 6 110064385 110064385 A C SNP FIG4 ENST00000230124 human ensembl 74_37 +1 known missense c.949 p.S317R 1.000 pfam_Syja_N,pfscan_Syja_N pfam_Syja_N,pfscan_Syja_N - no_errors FIG4 HGNC ENSG00000112367 161 0 0 101 32 24.0602 UTRN 0 genome.wustl.edu 37 6 144780063 144780063 + Missense_Mutation SNP C C G TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 6 144780063 144780063 C G SNP UTRN ENST00000367545 human ensembl 74_37 +1 known missense c.2442 p.I814M 0.003 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,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 UTRN HGNC ENSG00000152818 109 0 0 14 17 54.8387 SYNE1 0 genome.wustl.edu 37 6 152671358 152671358 + Missense_Mutation SNP T T A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 6 152671358 152671358 T A SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.11846 p.D3949V 1.000 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 163 0 0 46 32 41.0256 FNDC1 0 genome.wustl.edu 37 6 159660666 159660666 + Missense_Mutation SNP C C T TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 6 159660666 159660666 C T SNP FNDC1 ENST00000297267 human ensembl 74_37 +1 known missense c.4298 p.P1433L 0.019 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors FNDC1 HGNC ENSG00000164694 9 0 0 1 2 66.6667 PDE10A 0 genome.wustl.edu 37 6 165756904 165756904 + Missense_Mutation SNP A A C TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 6 165756904 165756904 A C SNP PDE10A ENST00000539869 human ensembl 74_37 -1 known missense c.2073 p.D691E 1.000 pfam_PDEase_catalytic_dom,prints_PDEase pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE10A HGNC ENSG00000112541 130 0 0 97 6 5.82524 ABCF1 0 genome.wustl.edu 37 6 30550930 30550930 + Missense_Mutation SNP C C T TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 6 30550930 30550930 C T SNP ABCF1 ENST00000326195 human ensembl 74_37 +1 known missense c.880 p.R294C 1.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCF1 HGNC ENSG00000204574 202 0 0 65 25 27.7778 MCCD1 0 genome.wustl.edu 37 6 31496954 31496954 + Missense_Mutation SNP C C T TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 6 31496954 31496954 C T SNP MCCD1 ENST00000376191 human ensembl 74_37 +1 known missense c.163 p.P55S 0.001 NULL NULL - no_errors MCCD1 HGNC ENSG00000204511 121 0 0 52 8 13.3333 TNXB 0 genome.wustl.edu 37 6 32020588 32020588 + Silent SNP G G T TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 6 32020588 32020588 G T SNP TNXB ENST00000375247 human ensembl 74_37 -1 known silent c.8968 p.R2990 0.985 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 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 84 0 0 45 11 19.6429 FAM83B 0 genome.wustl.edu 37 6 54806564 54806564 + Missense_Mutation SNP G G A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 6 54806564 54806564 G A SNP FAM83B ENST00000306858 human ensembl 74_37 +1 known missense c.2795 p.R932H 0.966 NULL pfam_DUF1669 - no_errors FAM83B HGNC ENSG00000168143 141 0 0 56 17 23.2877 F13A1 0 genome.wustl.edu 37 6 6145969 6145969 + Missense_Mutation SNP T T G TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 6 6145969 6145969 T G SNP F13A1 ENST00000264870 human ensembl 74_37 -1 known missense c.2082 p.E694D 0.725 pfam_Transglutaminase_C,superfamily_Transglutaminase_C pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors F13A1 HGNC ENSG00000124491 165 0 0 97 18 15.6522 BAI3 0 genome.wustl.edu 37 6 70071081 70071081 + Missense_Mutation SNP A A C TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 6 70071081 70071081 A C SNP BAI3 ENST00000370598 human ensembl 74_37 +1 known missense c.3916 p.S1306R 1.000 NULL pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like - no_errors BAI3 HGNC ENSG00000135298 95 0 0 36 12 25 LMBRD1 0 genome.wustl.edu 37 6 70423647 70423647 + Missense_Mutation SNP A A C TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 6 70423647 70423647 A C SNP LMBRD1 ENST00000370577 human ensembl 74_37 -1 known missense c.805 p.L269V 0.999 NULL pfam_LMBR1-like_membr_prot - no_errors LMBRD1 HGNC ENSG00000168216 124 0 0 46 8 14.8148 FILIP1 0 genome.wustl.edu 37 6 76063321 76063321 + Missense_Mutation SNP T T A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 6 76063321 76063321 T A SNP FILIP1 ENST00000237172 human ensembl 74_37 -1 known missense c.563 p.H188L 1.000 pfam_Cortactin-binding_p2_N pfam_Cortactin-binding_p2_N,prints_Tropomyosin - no_errors FILIP1 HGNC ENSG00000118407 298 0 0 129 31 19.375 PHIP 0 genome.wustl.edu 37 6 79664656 79664656 + Missense_Mutation SNP G G A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 6 79664656 79664656 G A SNP PHIP ENST00000275034 human ensembl 74_37 -1 known missense c.3928 p.R1310C 1.000 superfamily_Bromodomain pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quinonprotein_ADH-like_supfam,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors PHIP HGNC ENSG00000146247 66 0 0 21 10 32.2581 RELN 0 genome.wustl.edu 37 7 103322678 103322678 + Missense_Mutation SNP A A G TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 7 103322678 103322678 A G SNP RELN ENST00000424685 human ensembl 74_37 -1 known missense c.1174 p.Y392H 1.000 NULL pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Sialidases,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom - no_errors RELN HGNC ENSG00000189056 180 0 0 71 30 29.703 CPED1 0 genome.wustl.edu 37 7 120770266 120770266 + Silent SNP C C T TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 7 120770266 120770266 C T SNP CPED1 ENST00000310396 human ensembl 74_37 +1 known silent c.1495 p.L499 0.730 NULL NULL - no_errors CPED1 HGNC ENSG00000106034 129 0 0 82 21 20.3883 CPED1 0 genome.wustl.edu 37 7 120781020 120781020 + Silent SNP T T C TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 7 120781020 120781020 T C SNP CPED1 ENST00000310396 human ensembl 74_37 +1 known silent c.1839 p.T613 0.991 NULL NULL - no_errors CPED1 HGNC ENSG00000106034 64 0 0 33 8 19.5122 CPED1 0 genome.wustl.edu 37 7 120876819 120876819 + Missense_Mutation SNP T T C TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 7 120876819 120876819 T C SNP CPED1 ENST00000310396 human ensembl 74_37 +1 known missense c.2107 p.S703P 0.998 NULL NULL - no_errors CPED1 HGNC ENSG00000106034 123 0 0 61 17 21.7949 DGKB 0 genome.wustl.edu 37 7 14724974 14724974 + Missense_Mutation SNP T T G TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 7 14724974 14724974 T G SNP DGKB ENST00000258767 human ensembl 74_37 -1 known missense c.725 p.D242A 1.000 NULL pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_EF_hand_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_EF_hand_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors DGKB HGNC ENSG00000136267 112 0 0 100 11 9.90991 ABCF2 0 genome.wustl.edu 37 7 150920882 150920882 + Missense_Mutation SNP C C T TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 7 150920882 150920882 C T SNP ABCF2 ENST00000222388 human ensembl 74_37 -1 known missense c.604 p.D202N 0.999 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCF2 HGNC ENSG00000033050 42 0 0 7 4 36.3636 UBE3C 0 genome.wustl.edu 37 7 157000610 157000610 + Missense_Mutation SNP G G A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 7 157000610 157000610 G A SNP UBE3C ENST00000348165 human ensembl 74_37 +1 known missense c.1790 p.R597K 0.997 NULL pfam_HECT,superfamily_HECT,superfamily_DHFR-like_dom,smart_IQ_motif_EF-hand-BS,smart_HECT,pfscan_HECT,pfscan_IQ_motif_EF-hand-BS - no_errors UBE3C HGNC ENSG00000009335 56 0 0 33 5 13.1579 HDAC9 0 genome.wustl.edu 37 7 19035699 19035699 + RNA SNP C C T TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 7 19035699 19035699 C T SNP HDAC9 ENST00000496026 human ensembl 74_37 +1 known rna NULL NULL 0.999 - - - no_errors HDAC9 HGNC ENSG00000048052 17 0 0 19 4 17.3913 STK31 0 genome.wustl.edu 37 7 23871800 23871800 + Missense_Mutation SNP A A C TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 7 23871800 23871800 A C SNP STK31 ENST00000355870 human ensembl 74_37 +1 known missense c.2875 p.S959R 0.598 superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom pfam_Tudor,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Tudor,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Tudor,pfscan_Prot_kinase_dom - no_errors STK31 HGNC ENSG00000196335 100 0 0 63 10 13.6986 BRAT1 0 genome.wustl.edu 37 7 2578824 2578824 + Missense_Mutation SNP C C T TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 7 2578824 2578824 C T SNP BRAT1 ENST00000340611 human ensembl 74_37 -1 known missense c.1759 p.E587K 0.000 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold - no_errors BRAT1 HGNC ENSG00000106009 73 0 0 67 19 22.093 NFE2L3 0 genome.wustl.edu 37 7 26224983 26224983 + Silent SNP C C T TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 7 26224983 26224983 C T SNP NFE2L3 ENST00000056233 human ensembl 74_37 +1 known silent c.1665 p.V555 0.992 pfam_bZIP_Maf,superfamily_TF_DNA-bd pfam_bZIP,pfam_bZIP_Maf,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors NFE2L3 HGNC ENSG00000050344 96 0 0 82 5 5.74713 SNORA5C 0 genome.wustl.edu 37 7 45144523 45144523 + RNA SNP T T G TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 7 45144523 45144523 T G SNP SNORA5C ENST00000364902 human ensembl 74_37 -1 known rna NULL NULL 0.881 - - - no_errors SNORA5C HGNC ENSG00000201772 132 0 0 56 23 29.1139 ABCA13 0 genome.wustl.edu 37 7 48559811 48559811 + Missense_Mutation SNP T T A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 7 48559811 48559811 T A SNP ABCA13 ENST00000435803 human ensembl 74_37 +1 known missense c.13972 p.F4658I 0.994 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 61 0 0 48 8 14.2857 INTS4L2 0 genome.wustl.edu 37 7 65157822 65157822 + RNA SNP G G A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 7 65157822 65157822 G A SNP INTS4L2 ENST00000430126 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors INTS4L2 HGNC ENSG00000232270 116 0 0 51 18 26.087 STX1A 0 genome.wustl.edu 37 7 73122931 73122931 + Missense_Mutation SNP T T G TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 7 73122931 73122931 T G SNP STX1A ENST00000222812 human ensembl 74_37 -1 known missense c.196 p.N66H 1.000 pfam_Syntaxin_N,superfamily_t-SNARE,smart_Syntaxin_N pfam_Syntaxin_N,pfam_T_SNARE_dom,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors STX1A HGNC ENSG00000106089 46 0 0 43 8 15.6863 PCLO 0 genome.wustl.edu 37 7 82544655 82544655 + Missense_Mutation SNP T T G TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 7 82544655 82544655 T G SNP PCLO ENST00000333891 human ensembl 74_37 -1 known missense c.12647 p.Y4216S 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 63 0 0 22 3 12 PCLO 0 genome.wustl.edu 37 7 82544697 82544697 + Missense_Mutation SNP T T A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 7 82544697 82544697 T A SNP PCLO ENST00000333891 human ensembl 74_37 -1 known missense c.12605 p.K4202I 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 70 0 0 25 4 13.7931 PCLO 0 genome.wustl.edu 37 7 82581838 82581838 + Missense_Mutation SNP C C T TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 7 82581838 82581838 C T SNP PCLO ENST00000333891 human ensembl 74_37 -1 known missense c.8431 p.E2811K 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 88 0 0 56 13 18.8406 PCLO 0 genome.wustl.edu 37 7 82583158 82583158 + Nonsense_Mutation SNP T T A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 7 82583158 82583158 T A SNP PCLO ENST00000333891 human ensembl 74_37 -1 known nonsense c.7111 p.K2371* 0.007 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 40 0 0 14 3 17.6471 SAMD9 0 genome.wustl.edu 37 7 92733880 92733880 + Missense_Mutation SNP T T G TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 7 92733880 92733880 T G SNP SAMD9 ENST00000379958 human ensembl 74_37 -1 known missense c.1531 p.S511R 0.024 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,superfamily_P-loop_NTPase,smart_SAM,pfscan_SAM - no_errors SAMD9 HGNC ENSG00000205413 215 0 0 100 17 14.5299 SGCE 0 genome.wustl.edu 37 7 94257572 94257572 + Missense_Mutation SNP T T C TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 7 94257572 94257572 T C SNP SGCE ENST00000445866 human ensembl 74_37 -1 known missense c.332 p.D111G 1.000 pfam_Sarcoglycan_2,superfamily_Cadherin-like,smart_Cadg pfam_Sarcoglycan_2,superfamily_Cadherin-like,smart_Cadg - no_errors SGCE HGNC ENSG00000127990 39 0 0 25 9 26.4706 DYNC1I1 0 genome.wustl.edu 37 7 95709704 95709704 + Silent SNP G G A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 7 95709704 95709704 G A SNP DYNC1I1 ENST00000324972 human ensembl 74_37 +1 known silent c.1731 p.G577 0.206 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_Dynein_IC_1/2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DYNC1I1 HGNC ENSG00000158560 170 1 0.584795 88 28 24.1379 DCSTAMP 0 genome.wustl.edu 37 8 105361682 105361682 + Missense_Mutation SNP T T G TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 8 105361682 105361682 T G SNP DCSTAMP ENST00000297581 human ensembl 74_37 +1 known missense c.902 p.L301R 0.057 pfam_DC_STAMP-like,superfamily_ABC1_TM_dom pfam_DC_STAMP-like,superfamily_ABC1_TM_dom - no_errors DCSTAMP HGNC ENSG00000164935 348 0 0 162 47 22.488 KCNV1 0 genome.wustl.edu 37 8 110986309 110986309 + Silent SNP G G A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 8 110986309 110986309 G A SNP KCNV1 ENST00000297404 human ensembl 74_37 -1 known silent c.309 p.F103 0.999 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv4 pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv8,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv4 - no_errors KCNV1 HGNC ENSG00000164794 42 0 0 13 6 31.5789 KCNQ3 0 genome.wustl.edu 37 8 133187703 133187703 + Silent SNP G G A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 8 133187703 133187703 G A SNP KCNQ3 ENST00000388996 human ensembl 74_37 -1 known silent c.930 p.G310 0.368 pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl 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 180 0 0 94 19 16.8142 CYHR1 0 genome.wustl.edu 37 8 145689777 145689777 + Silent SNP G G C TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 8 145689777 145689777 G C SNP CYHR1 ENST00000306145 human ensembl 74_37 -1 known silent c.312 p.G104 0.858 NULL NULL - no_errors CYHR1 HGNC ENSG00000187954 170 0 0 75 23 23.4694 ARHGAP39 0 genome.wustl.edu 37 8 145772550 145772550 + Silent SNP G G A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 8 145772550 145772550 G A SNP ARHGAP39 ENST00000377307 human ensembl 74_37 -1 known silent c.1920 p.T640 1.000 NULL pfam_RhoGAP_dom,pfam_MyTH4_dom,superfamily_Rho_GTPase_activation_prot,superfamily_WW_dom,smart_WW_dom,smart_MyTH4_dom,smart_RhoGAP_dom,pfscan_MyTH4_dom,pfscan_WW_dom,pfscan_RhoGAP_dom - no_errors ARHGAP39 HGNC ENSG00000147799 42 0 0 17 10 37.037 PPP3CC 0 genome.wustl.edu 37 8 22380190 22380190 + Missense_Mutation SNP C C A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 8 22380190 22380190 C A SNP PPP3CC ENST00000240139 human ensembl 74_37 +1 known missense c.871 p.Q291K 1.000 smart_Ser/Thr-sp_prot-phosphatase pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPP3CC HGNC ENSG00000120910 136 0 0 52 4 7.14286 UNC5D 0 genome.wustl.edu 37 8 35541239 35541239 + Missense_Mutation SNP G G A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 8 35541239 35541239 G A SNP UNC5D ENST00000404895 human ensembl 74_37 +1 known missense c.745 p.V249I 1.000 superfamily_Thrombospondin_1_rpt,smart_Ig_sub 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 78 0 0 18 5 21.7391 IDO2 0 genome.wustl.edu 37 8 39871157 39871157 + Missense_Mutation SNP G G A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 8 39871157 39871157 G A SNP IDO2 ENST00000502986 human ensembl 74_37 +1 known missense c.832 p.G278S 0.997 pfam_Indolamine_dOase pfam_Indolamine_dOase - no_errors IDO2 HGNC ENSG00000188676 120 1 0.826446 32 13 28.8889 KAT6A 0 genome.wustl.edu 37 8 41906165 41906165 + Missense_Mutation SNP C C A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 8 41906165 41906165 C A SNP KAT6A ENST00000265713 human ensembl 74_37 -1 known missense c.331 p.A111S 0.993 smart_Histone_H1/H5_H15 pfam_MOZ_SAS,pfam_Znf_PHD-finger,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5_H15,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors KAT6A HGNC ENSG00000083168 173 0 0 120 16 11.7647 PXDNL 0 genome.wustl.edu 37 8 52384785 52384785 + Missense_Mutation SNP T T G TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 8 52384785 52384785 T G SNP PXDNL ENST00000356297 human ensembl 74_37 -1 known missense c.774 p.E258D 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom 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 PXDNL HGNC ENSG00000147485 152 0 0 29 89 75.4237 TTPA 0 genome.wustl.edu 37 8 63976767 63976767 + Missense_Mutation SNP G G A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 8 63976767 63976767 G A SNP TTPA ENST00000260116 human ensembl 74_37 -1 known missense c.661 p.R221W 0.997 pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran - no_errors TTPA HGNC ENSG00000137561 32 0 0 19 5 20.8333 LOC100132891 0 genome.wustl.edu 37 8 72756484 72756484 + Missense_Mutation SNP G G A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 8 72756484 72756484 G A SNP LOC100132891 ENST00000522519 human ensembl 74_37 +1 known missense c.253 p.A85T 0.002 NULL NULL - no_errors RP11-383H13.1 Clone_based_vega_gene ENSG00000235531 21 0 0 14 10 41.6667 POP1 0 genome.wustl.edu 37 8 99170065 99170065 + Missense_Mutation SNP G G A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 8 99170065 99170065 G A SNP POP1 ENST00000349693 human ensembl 74_37 +1 known missense c.2641 p.E881K 0.999 NULL pfam_RNase_P/MRP_POP1,pfam_POPLD - no_errors POP1 HGNC ENSG00000104356 147 0 0 17 51 75 GARNL3 0 genome.wustl.edu 37 9 130147318 130147318 + Missense_Mutation SNP C C T TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 9 130147318 130147318 C T SNP GARNL3 ENST00000373387 human ensembl 74_37 +1 known missense c.2282 p.P761L 1.000 pfam_Citron,smart_Citron pfam_Citron,pfam_Rap_GAP_dom,smart_Citron,pfscan_Rap_GAP_dom - no_errors GARNL3 HGNC ENSG00000136895 199 0 0 134 27 16.7702 ST6GALNAC6 0 genome.wustl.edu 37 9 130660220 130660220 + RNA SNP G G A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 9 130660220 130660220 G A SNP ST6GALNAC6 ENST00000478319 human ensembl 74_37 -1 known rna NULL NULL 0.608 - - - no_errors ST6GALNAC6 HGNC ENSG00000160408 49 0 0 22 6 21.4286 FUBP3 0 genome.wustl.edu 37 9 133498194 133498194 + Missense_Mutation SNP C C T TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 9 133498194 133498194 C T SNP FUBP3 ENST00000319725 human ensembl 74_37 +1 known missense c.871 p.P291S 1.000 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,pfam_KH_dom_type_2,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors FUBP3 HGNC ENSG00000107164 165 0 0 60 21 25.9259 NPR2 0 genome.wustl.edu 37 9 35800105 35800105 + Silent SNP G G A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 9 35800105 35800105 G A SNP NPR2 ENST00000342694 human ensembl 74_37 +1 known silent c.1074 p.R358 0.992 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Peripla_BP_I,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_A/G_cyclase,prints_Ntpep_rcpt,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase - no_errors NPR2 HGNC ENSG00000159899 311 0 0 61 38 38.3838 FLJ20444 0 genome.wustl.edu 37 9 66513726 66513726 + RNA SNP C C T TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 9 66513726 66513726 C T SNP FLJ20444 ENST00000586625 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-262H14.3 Clone_based_vega_gene ENSG00000234665 19 0 0 3 2 40 TRPM6 0 genome.wustl.edu 37 9 77403574 77403574 + Missense_Mutation SNP C C A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 9 77403574 77403574 C A SNP TRPM6 ENST00000451710 human ensembl 74_37 -1 known missense c.2623 p.V875F 1.000 NULL pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase - no_errors TRPM6 HGNC ENSG00000119121 214 0 0 96 14 12.7273 ERCC6L2 0 genome.wustl.edu 37 9 98685633 98685633 + Missense_Mutation SNP C C G TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 9 98685633 98685633 C G SNP ERCC6L2 ENST00000437817 human ensembl 74_37 +1 known missense c.971 p.S324C 1.000 pfam_HDA_complex_subunit-2/3,superfamily_P-loop_NTPase pfam_SNF2_N,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ERCC6L2 HGNC ENSG00000182150 153 0 0 54 31 36.4706 MT-ATP6 0 genome.wustl.edu 37 MT 9182 9182 + Missense_Mutation SNP G G C TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc MT 9182 9182 G C SNP MT-ATP6 ENST00000361899 human ensembl 74_37 +1 known missense c.656 p.S219T NULL pfam_ATPase_F0-cplx_asu,superfamily_ATPase_F0-cplx_asu,prints_ATPase_F0-cplx_asu,tigrfam_ATPase_F0-cplx_asu pfam_ATPase_F0-cplx_asu,superfamily_ATPase_F0-cplx_asu,prints_ATPase_F0-cplx_asu,tigrfam_ATPase_F0-cplx_asu - no_errors MT-ATP6 HGNC ENSG00000198899 12 0 0 8 29 78.3784 CHRDL1 0 genome.wustl.edu 37 X 109924715 109924715 + Missense_Mutation SNP C C T TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc X 109924715 109924715 C T SNP CHRDL1 ENST00000372042 human ensembl 74_37 -1 known missense c.1151 p.R384Q 0.997 NULL pfam_VWF_C,smart_VWF_C,pfscan_VWF_C - no_errors CHRDL1 HGNC ENSG00000101938 103 0 0 19 29 60.4167 ZCCHC16 0 genome.wustl.edu 37 X 111698082 111698082 + Missense_Mutation SNP A A C TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc X 111698082 111698082 A C SNP ZCCHC16 ENST00000340433 human ensembl 74_37 +1 known missense c.126 p.Q42H 0.001 NULL superfamily_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC16 HGNC ENSG00000187823 80 0 0 6 13 68.4211 VGLL1 0 genome.wustl.edu 37 X 135638646 135638646 + Missense_Mutation SNP T T G TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc X 135638646 135638646 T G SNP VGLL1 ENST00000370634 human ensembl 74_37 +1 known missense c.725 p.L242R 0.002 NULL pfam_Vg_Tdu,smart_TDU_repeat - no_errors VGLL1 HGNC ENSG00000102243 102 0 0 12 23 65.7143 UBE2NL 0 genome.wustl.edu 37 X 142967519 142967519 + Missense_Mutation SNP T T C TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc X 142967519 142967519 T C SNP UBE2NL ENST00000370494 human ensembl 74_37 +1 known missense c.317 p.L106P 1.000 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2NL HGNC ENSG00000102069 120 0 0 20 27 57.4468 CSAG4 0 genome.wustl.edu 37 X 151896589 151896589 + RNA SNP C C A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc X 151896589 151896589 C A SNP CSAG4 ENST00000361201 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CSAG4 HGNC ENSG00000242599 173 1 0.574713 66 11 14.2857 RPS6KA3 0 genome.wustl.edu 37 X 20173605 20173605 + Missense_Mutation SNP G G A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc X 20173605 20173605 G A SNP RPS6KA3 ENST00000379565 human ensembl 74_37 -1 known missense c.2134 p.R712C 1.000 superfamily_Kinase-like_dom,pirsf_Ribosomal_S6_kinase_II 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,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors RPS6KA3 HGNC ENSG00000177189 85 0 0 43 20 31.746 ZNF645 0 genome.wustl.edu 37 X 22292314 22292314 + Silent SNP G G A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc X 22292314 22292314 G A SNP ZNF645 ENST00000323684 human ensembl 74_37 +1 known silent c.1206 p.T402 0.002 NULL pfscan_Znf_RING,pfscan_Znf_C2H2 - no_errors ZNF645 HGNC ENSG00000175809 102 0 0 48 29 37.6623 FAM47C 0 genome.wustl.edu 37 X 37028374 37028374 + Missense_Mutation SNP C C T TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc X 37028374 37028374 C T SNP FAM47C ENST00000358047 human ensembl 74_37 +1 known missense c.1891 p.R631C 0.000 NULL NULL - no_errors FAM47C HGNC ENSG00000198173 121 1 0.819672 46 21 31.3433 RBM10 0 genome.wustl.edu 37 X 47030564 47030564 + Silent SNP G G A TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc X 47030564 47030564 G A SNP RBM10 ENST00000377604 human ensembl 74_37 +1 known silent c.339 p.E113 1.000 NULL pfam_G_patch_dom,pfam_RRM_dom,pfam_Znf_RanBP2,smart_RRM_dom,smart_Znf_RanBP2,smart_G_patch_dom,pfscan_Znf_RanBP2,pfscan_Znf_C2H2,pfscan_G_patch_dom,pfscan_RRM_dom - no_errors RBM10 HGNC ENSG00000182872 37 0 0 19 6 24 WNK3 0 genome.wustl.edu 37 X 54228489 54228489 + Missense_Mutation SNP T T G TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc X 54228489 54228489 T G SNP WNK3 ENST00000354646 human ensembl 74_37 -1 known missense c.5008 p.S1670R 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors WNK3 HGNC ENSG00000196632 35 0 0 21 8 27.5862 MAGEE1 0 genome.wustl.edu 37 X 75648562 75648562 + Missense_Mutation SNP T T G TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc X 75648562 75648562 T G SNP MAGEE1 ENST00000361470 human ensembl 74_37 +1 known missense c.239 p.V80G 0.341 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEE1 HGNC ENSG00000198934 11 0 0 3 2 40 FADS3 0 genome.wustl.edu 37 11 61644395 61644397 + In_Frame_Del DEL AAG AAG - TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 AAG AAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 11 61644395 61644397 AAG - DEL FADS3 ENST00000278829 human ensembl 74_37 -1 known in_frame_del c.926_924 p.F308in_frame_del 0.519:0.514:0.829 pfam_Fatty_acid_desaturase-1,pirsf_Fatty_acid/sphinglp_desaturase pfam_Fatty_acid_desaturase-1,pfam_Cyt_B5-like_heme/steroid-bd,superfamily_Cyt_B5-like_heme/steroid-bd,pirsf_Fatty_acid/sphinglp_desaturase,pfscan_Cyt_B5-like_heme/steroid-bd - no_errors FADS3 HGNC ENSG00000221968 42 0 0 15 3 16.6667 ARID3B 0 genome.wustl.edu 37 15 74888025 74888027 + In_Frame_Del DEL CAG CAG - TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 CAG CAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 15 74888025 74888027 CAG - DEL ARID3B ENST00000346246 human ensembl 74_37 +1 known in_frame_del c.1593_1595 p.S535in_frame_del 0.996:0.998:1.000 NULL pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID3B HGNC ENSG00000179361 117 1 0.847458 55 5 8.33333 ITGB4 0 genome.wustl.edu 37 17 73747111 73747112 + Frame_Shift_Ins INS - - T TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 17 73747111 73747112 - T INS ITGB4 ENST00000200181 human ensembl 74_37 +1 known frame_shift_ins c.3712_3713 p.S1239fs 1.000:1.000 pirsf_Integrin_bsu-4,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pirsf_Integrin_bsu-4,pfam_Integrin_bsu_N,pfam_Fibronectin_type3,pfam_Calx_beta,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Fibronectin_type3,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,smart_Calx_beta,smart_Fibronectin_type3,prints_Integrin_bsu,pfscan_Fibronectin_type3 - no_errors ITGB4 HGNC ENSG00000132470 212 0 0 73 24 24.7423 FHOD3 0 genome.wustl.edu 37 18 34298327 34298328 + Frame_Shift_Ins INS - - CC TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 18 34298327 34298328 - CC INS FHOD3 ENST00000257209 human ensembl 74_37 +1 known frame_shift_ins c.2541_2542 p.P849fs 0.984:1.000 NULL pfam_FH2_Formin,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors FHOD3 HGNC ENSG00000134775 55 0 0 31 6 16.2162 ELP3 0 genome.wustl.edu 37 8 27967927 27967928 + Frame_Shift_Ins INS - - CCTA TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc 8 27967927 27967928 - CCTA INS ELP3 ENST00000256398 human ensembl 74_37 +1 known frame_shift_ins c.434_435 p.Q147fs 0.945:0.946 pfam_rSAM,smart_Elp3/MiaB/NifB,pirsf_Hist_AcTrfase_ELP3,tigrfam_Hist_AcTrfase_ELP3 pfam_rSAM,pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,smart_Elp3/MiaB/NifB,pirsf_Hist_AcTrfase_ELP3,pfscan_GNAT_dom,tigrfam_Hist_AcTrfase_ELP3 - no_errors ELP3 HGNC ENSG00000134014 232 0 0 105 31 22.7941 PPP2R3B 0 genome.wustl.edu 37 X 301618 301624 + Frame_Shift_Del DEL GAACATG GAACATG - TCGA-BR-7197-01A-11D-2201-08 TCGA-BR-7197-10A-01D-2201-08 GAACATG GAACATG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ce737023-df0f-4b98-a1bf-695c7ef3ea71 08979d3a-4c9d-4d8b-b6f4-aadd58ae0ccc X 301618 301624 GAACATG - DEL PPP2R3B ENST00000390665 human ensembl 74_37 -1 known frame_shift_del c.1233_1227 p.M410fs 0.999:1.000:1.000:1.000:1.000:1.000:1.000 pfscan_EF_hand_dom pfscan_EF_hand_dom - no_errors PPP2R3B HGNC ENSG00000167393 140 0 0 63 13 17.1053