Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_Position End_Position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_File Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID chromosome_name start stop reference variant type gene_name transcript_name transcript_species transcript_source transcript_version strand transcript_status trv_type c_position amino_acid_change ucsc_cons domain all_domains deletion_substructures transcript_error default_gene_name gene_name_source ensembl_gene_id tier title header normal_ref_reads normal_var_reads normal_VAF tumor_ref_reads tumor_var_reads tumor_VAF COL11A1 0 genome.wustl.edu 37 1 103355106 103355106 + Missense_Mutation SNP A A C TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 1 103355106 103355106 A C SNP COL11A1 ENST00000358392 human ensembl 74_37 -1 known missense c.4405 p.L1469V 0.997 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL11A1 HGNC ENSG00000060718 83 0 0 53 3 5.35714 MASP2 0 genome.wustl.edu 37 1 11087139 11087139 + Nonsense_Mutation SNP C C A TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 1 11087139 11087139 C A SNP MASP2 ENST00000400897 human ensembl 74_37 -1 known nonsense c.1864 p.E622* 0.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_CUB_dom,pfam_Sushi_SCR_CCP,pfam_EGF-like_Ca-bd_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Sushi_SCR_CCP,smart_Peptidase_S1,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors MASP2 HGNC ENSG00000009724 202 0 0 194 23 10.5991 CHRNB2 0 genome.wustl.edu 37 1 154544028 154544028 + Silent SNP C C A TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 1 154544028 154544028 C A SNP CHRNB2 ENST00000368476 human ensembl 74_37 +1 known silent c.729 p.I243 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNB2 HGNC ENSG00000160716 192 0 0 203 22 9.77778 ADAM15 0 genome.wustl.edu 37 1 155030414 155030414 + Missense_Mutation SNP C C T TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 1 155030414 155030414 C T SNP ADAM15 ENST00000356955 human ensembl 74_37 +1 known missense c.1504 p.P502S 0.938 pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,pfam_Peptidase_M12B_N,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B - no_errors ADAM15 HGNC ENSG00000143537 99 0 0 131 11 7.74648 SNORA42 0 genome.wustl.edu 37 1 155889722 155889722 + RNA SNP C C T TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 1 155889722 155889722 C T SNP SNORA42 ENST00000384744 human ensembl 74_37 -1 known rna NULL NULL 0.998 - - - no_errors SNORA42 HGNC ENSG00000207475 45 0 0 59 11 15.7143 LMNA 0 genome.wustl.edu 37 1 156106886 156106886 + RNA SNP T T C TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 1 156106886 156106886 T C SNP LMNA ENST00000496738 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors LMNA HGNC ENSG00000160789 50 0 0 47 7 12.963 TRMT1L 0 genome.wustl.edu 37 1 185109148 185109148 + Missense_Mutation SNP T T C TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 1 185109148 185109148 T C SNP TRMT1L ENST00000367506 human ensembl 74_37 -1 known missense c.1066 p.M356V 1.000 pfam_TRM1 pfam_TRM1,pfam_tRNA_Trfase_Trm5/Tyw2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors TRMT1L HGNC ENSG00000121486 54 0 0 57 32 35.9551 HMCN1 0 genome.wustl.edu 37 1 186099106 186099106 + Missense_Mutation SNP G G T TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 1 186099106 186099106 G T SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known missense c.12913 p.D4305Y 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_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 73 0 0 81 27 25 ARL8A 0 genome.wustl.edu 37 1 202107141 202107141 + Missense_Mutation SNP C C T TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 1 202107141 202107141 C T SNP ARL8A ENST00000272217 human ensembl 74_37 -1 known missense c.230 p.R77H 1.000 pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_MIRO-like,pfam_Gtr1_RagA,pfam_SRP_receptor_beta_su,pfam_Gprotein_alpha_su,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,smart_Small_GTPase_Rab_type,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_MIRO-like,pfam_Gtr1_RagA,pfam_SRP_receptor_beta_su,pfam_Gprotein_alpha_su,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,smart_Small_GTPase_Rab_type,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors ARL8A HGNC ENSG00000143862 60 0 0 75 6 7.40741 PLCH2 0 genome.wustl.edu 37 1 2435628 2435628 + Missense_Mutation SNP C C T TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 1 2435628 2435628 C T SNP PLCH2 ENST00000378486 human ensembl 74_37 +1 known missense c.3227 p.T1076M 0.000 NULL pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_EF_hand_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_EF_hand_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCH2 HGNC ENSG00000149527 8 0 0 7 3 30 OR2W5 0 genome.wustl.edu 37 1 247654885 247654885 + RNA SNP C C T TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 1 247654885 247654885 C T SNP OR2W5 ENST00000522351 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors OR2W5 HGNC ENSG00000203664 104 0 0 84 8 8.69565 OR14A16 0 genome.wustl.edu 37 1 247978434 247978434 + Missense_Mutation SNP T T C TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 1 247978434 247978434 T C SNP OR14A16 ENST00000357627 human ensembl 74_37 -1 known missense c.598 p.I200V 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR14A16 HGNC ENSG00000196772 45 0 0 82 7 7.86517 SFN 0 genome.wustl.edu 37 1 27189931 27189931 + Silent SNP G G A TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 1 27189931 27189931 G A SNP SFN ENST00000339276 human ensembl 74_37 +1 known silent c.228 p.E76 1.000 pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3 pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3 - no_errors SFN HGNC ENSG00000175793 123 0 0 78 13 14.2857 CAMTA1 0 genome.wustl.edu 37 1 7792608 7792608 + Silent SNP C C T TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 1 7792608 7792608 C T SNP CAMTA1 ENST00000303635 human ensembl 74_37 +1 known silent c.3015 p.G1005 0.180 NULL 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 22 0 0 21 3 12.5 CPXM2 0 genome.wustl.edu 37 10 125539751 125539751 + Missense_Mutation SNP G G A TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 10 125539751 125539751 G A SNP CPXM2 ENST00000241305 human ensembl 74_37 -1 known missense c.910 p.R304C 1.000 NULL pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom,prints_Peptidase_M14 - no_errors CPXM2 HGNC ENSG00000121898 79 0 0 98 15 13.2743 CHST3 0 genome.wustl.edu 37 10 73767375 73767375 + Missense_Mutation SNP T T A TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 10 73767375 73767375 T A SNP CHST3 ENST00000373115 human ensembl 74_37 +1 known missense c.586 p.F196I 0.986 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase - no_errors CHST3 HGNC ENSG00000122863 40 0 0 24 3 11.1111 GUCY1A2 0 genome.wustl.edu 37 11 106888532 106888532 + Missense_Mutation SNP G G A TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 11 106888532 106888532 G A SNP GUCY1A2 ENST00000282249 human ensembl 74_37 -1 known missense c.250 p.R84W 1.000 NULL pfam_Haem_no_assoc-bd,pfam_A/G_cyclase,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors GUCY1A2 HGNC ENSG00000152402 10 0 0 12 4 25 C11orf87 0 genome.wustl.edu 37 11 109294782 109294782 + Silent SNP C C T TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 11 109294782 109294782 C T SNP C11orf87 ENST00000327419 human ensembl 74_37 +1 known silent c.423 p.C141 0.791 NULL superfamily_MFS_dom_general_subst_transpt - no_errors C11orf87 HGNC ENSG00000185742 146 0 0 126 13 9.35252 SIK3 0 genome.wustl.edu 37 11 116734447 116734447 + Missense_Mutation SNP G G T TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 11 116734447 116734447 G T SNP SIK3 ENST00000375288 human ensembl 74_37 -1 known missense c.17 p.S6Y 1.000 NULL NULL - no_errors SIK3 HGNC ENSG00000160584 186 0 0 167 25 13.0208 OR51A7 0 genome.wustl.edu 37 11 4929383 4929383 + Missense_Mutation SNP C C T TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 11 4929383 4929383 C T SNP OR51A7 ENST00000359350 human ensembl 74_37 +1 known missense c.784 p.H262Y 0.482 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR51A7 HGNC ENSG00000176895 202 0 0 171 20 10.4712 OR5M3 0 genome.wustl.edu 37 11 56237908 56237908 + Missense_Mutation SNP T T G TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 11 56237908 56237908 T G SNP OR5M3 ENST00000312240 human ensembl 74_37 -1 known missense c.66 p.Q22H 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5M3 HGNC ENSG00000174937 72 0 0 86 10 10.4167 SF3B2 0 genome.wustl.edu 37 11 65825873 65825873 + Missense_Mutation SNP G G T TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 11 65825873 65825873 G T SNP SF3B2 ENST00000322535 human ensembl 74_37 +1 known missense c.963 p.K321N 0.962 NULL pfam_DUF382,pfam_PSP,pfam_SAP_dom,smart_SAP_dom,smart_PSP,pfscan_SAP_dom - no_errors SF3B2 HGNC ENSG00000087365 66 0 0 75 14 15.7303 DLG2 0 genome.wustl.edu 37 11 84996396 84996396 + Missense_Mutation SNP A A C TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 11 84996396 84996396 A C SNP DLG2 ENST00000376104 human ensembl 74_37 -1 known missense c.54 p.F18L 1.000 pfam_L27_1,pfscan_L27 pfam_PDZ,pfam_GK/Ca_channel_bsu,pfam_MAGUK_PEST_N,pfam_PDZ_assoc,pfam_L27_1,pfam_SH3_2,pfam_SH3_domain,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pirsf_M-assoc_guanylate_kinase,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors DLG2 HGNC ENSG00000150672 58 0 0 70 9 11.3924 ARID2 0 genome.wustl.edu 37 12 46246234 46246234 + Missense_Mutation SNP G G A TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 12 46246234 46246234 G A SNP ARID2 ENST00000334344 human ensembl 74_37 +1 known missense c.4328 p.S1443N 1.000 NULL pfam_ARID/BRIGHT_DNA-bd,pfam_DNA-bd_RFX,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID2 HGNC ENSG00000189079 136 0 0 147 25 14.5349 CCNT1 0 genome.wustl.edu 37 12 49087216 49087216 + Missense_Mutation SNP C C T TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 12 49087216 49087216 C T SNP CCNT1 ENST00000261900 human ensembl 74_37 -1 known missense c.1781 p.S594N 1.000 NULL pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNT1 HGNC ENSG00000129315 82 0 0 83 20 19.4175 RND1 0 genome.wustl.edu 37 12 49255803 49255803 + Missense_Mutation SNP C C T TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 12 49255803 49255803 C T SNP RND1 ENST00000309739 human ensembl 74_37 -1 known missense c.307 p.A103T 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RND1 HGNC ENSG00000172602 49 0 0 36 5 12.1951 KCNA1 0 genome.wustl.edu 37 12 5021222 5021222 + Silent SNP G G A TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 12 5021222 5021222 G A SNP KCNA1 ENST00000382545 human ensembl 74_37 +1 known silent c.678 p.T226 0.789 pfam_Ion_trans_dom,prints_K_chnl pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv1.1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv1.3 - no_errors KCNA1 HGNC ENSG00000111262 107 0 0 81 15 15.625 ACVR1B 0 genome.wustl.edu 37 12 52385743 52385743 + Missense_Mutation SNP G G A TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 12 52385743 52385743 G A SNP ACVR1B ENST00000257963 human ensembl 74_37 +1 known missense c.1358 p.R453H 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,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ACVR1B HGNC ENSG00000135503 103 0 0 94 13 12.1495 SRGAP1 0 genome.wustl.edu 37 12 64521762 64521762 + Missense_Mutation SNP A A G TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 12 64521762 64521762 A G SNP SRGAP1 ENST00000355086 human ensembl 74_37 +1 known missense c.2662 p.S888G 0.773 NULL pfam_RhoGAP_dom,pfam_FCH_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Fuc/Ara_isomerase_C,smart_FCH_dom,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors SRGAP1 HGNC ENSG00000196935 124 0 0 84 16 16 MGAT4C 0 genome.wustl.edu 37 12 86383233 86383233 + Missense_Mutation SNP A A T TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 12 86383233 86383233 A T SNP MGAT4C ENST00000393205 human ensembl 74_37 -1 known missense c.179 p.V60D 1.000 superfamily_LSM_dom pfam_Glyco_transf_54,superfamily_LSM_dom - no_errors MGAT4C HGNC ENSG00000182050 13 0 0 31 4 11.4286 CLEC4D 0 genome.wustl.edu 37 12 8672848 8672848 + Silent SNP A A G TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 12 8672848 8672848 A G SNP CLEC4D ENST00000299665 human ensembl 74_37 +1 known silent c.411 p.R137 0.042 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII - no_errors CLEC4D HGNC ENSG00000166527 51 0 0 61 6 8.95522 FGF14 0 genome.wustl.edu 37 13 102568988 102568988 + Missense_Mutation SNP G G T TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 13 102568988 102568988 G T SNP FGF14 ENST00000376143 human ensembl 74_37 -1 known missense c.8 p.A3E 1.000 NULL pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam - no_errors FGF14 HGNC ENSG00000102466 17 0 0 18 9 33.3333 ATP11A 0 genome.wustl.edu 37 13 113508679 113508679 + Missense_Mutation SNP C C T TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 13 113508679 113508679 C T SNP ATP11A ENST00000375630 human ensembl 74_37 +1 known missense c.2078 p.T693M 1.000 superfamily_HAD-like_dom,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 ATP11A HGNC ENSG00000068650 55 0 0 69 7 9.21053 RASL11A 0 genome.wustl.edu 37 13 27847440 27847440 + Missense_Mutation SNP G G A TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 13 27847440 27847440 G A SNP RASL11A ENST00000241463 human ensembl 74_37 +1 known missense c.538 p.E180K 1.000 pfam_Small_GTPase,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RASL11A HGNC ENSG00000122035 41 0 0 39 11 22 SLC7A1 0 genome.wustl.edu 37 13 30097526 30097526 + Missense_Mutation SNP G G A TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 13 30097526 30097526 G A SNP SLC7A1 ENST00000380752 human ensembl 74_37 -1 known missense c.926 p.T309M 1.000 pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1,tigrfam_Cat_AA_permease pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1,tigrfam_Cat_AA_permease - no_errors SLC7A1 HGNC ENSG00000139514 88 0 0 102 9 8.10811 SYNE2 0 genome.wustl.edu 37 14 64681128 64681128 + Missense_Mutation SNP G G A TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 14 64681128 64681128 G A SNP SYNE2 ENST00000358025 human ensembl 74_37 +1 known missense c.19273 p.V6425M 1.000 NULL pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 75 0 0 68 17 20 LINS 0 genome.wustl.edu 37 15 101114418 101114418 + Silent SNP G G A TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 15 101114418 101114418 G A SNP LINS ENST00000314742 human ensembl 74_37 -1 known silent c.660 p.F220 0.363 NULL NULL - no_errors LINS HGNC ENSG00000140471 48 0 0 41 3 6.81818 DNM1P47 0 genome.wustl.edu 37 15 102292770 102292770 + RNA SNP C C T TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 15 102292770 102292770 C T SNP DNM1P47 ENST00000561463 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors DNM1P47 HGNC ENSG00000259660 26 0 0 23 5 17.8571 MTMR10 0 genome.wustl.edu 37 15 31244239 31244239 + Missense_Mutation SNP G G A TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 15 31244239 31244239 G A SNP MTMR10 ENST00000435680 human ensembl 74_37 -1 known missense c.1139 p.A380V 0.008 NULL pfam_Myotubularin_assoc,pfam_Myotubularin-like_Pase_dom - no_errors MTMR10 HGNC ENSG00000166912 34 0 0 32 5 13.5135 TPSAB1 0 genome.wustl.edu 37 16 1291454 1291454 + Missense_Mutation SNP G G A TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 16 1291454 1291454 G A SNP TPSAB1 ENST00000338844 human ensembl 74_37 +1 known missense c.253 p.A85T 0.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors TPSAB1 HGNC ENSG00000172236 22 0 0 26 5 16.129 SMG1 0 genome.wustl.edu 37 16 18887699 18887699 + Missense_Mutation SNP T T C TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 16 18887699 18887699 T C SNP SMG1 ENST00000389467 human ensembl 74_37 -1 known missense c.1637 p.H546R 1.000 superfamily_ARM-type_fold pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors SMG1 HGNC ENSG00000157106 17 0 0 18 3 14.2857 HS3ST6 0 genome.wustl.edu 37 16 1962078 1962078 + Missense_Mutation SNP C C T TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 16 1962078 1962078 C T SNP HS3ST6 ENST00000293937 human ensembl 74_37 -1 known missense c.542 p.R181Q 1.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors HS3ST6 HGNC ENSG00000162040 56 0 0 45 10 18.1818 RAB26 0 genome.wustl.edu 37 16 2201750 2201750 + Missense_Mutation SNP C C T TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 16 2201750 2201750 C T SNP RAB26 ENST00000210187 human ensembl 74_37 +1 known missense c.403 p.R135W 0.992 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB26 HGNC ENSG00000167964 60 0 0 41 5 10.8696 ZKSCAN2 0 genome.wustl.edu 37 16 25258325 25258325 + Missense_Mutation SNP T T C TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 16 25258325 25258325 T C SNP ZKSCAN2 ENST00000328086 human ensembl 74_37 -1 known missense c.1192 p.K398E 1.000 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZKSCAN2 HGNC ENSG00000155592 150 0 0 158 17 9.71429 ZNF668 0 genome.wustl.edu 37 16 31073217 31073217 + Silent SNP C C T TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 16 31073217 31073217 C T SNP ZNF668 ENST00000426488 human ensembl 74_37 -1 known silent c.1101 p.T367 0.012 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF668 HGNC ENSG00000167394 155 0 0 111 15 11.9048 MYLK3 0 genome.wustl.edu 37 16 46761267 46761267 + Missense_Mutation SNP C C T TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 16 46761267 46761267 C T SNP MYLK3 ENST00000394809 human ensembl 74_37 -1 known missense c.1795 p.D599N 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 MYLK3 HGNC ENSG00000140795 37 0 0 32 6 15.7895 CX3CL1 0 genome.wustl.edu 37 16 57416298 57416298 + Missense_Mutation SNP C C T TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 16 57416298 57416298 C T SNP CX3CL1 ENST00000006053 human ensembl 74_37 +1 known missense c.548 p.T183M 0.000 NULL pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_CX3CL1 - no_errors CX3CL1 HGNC ENSG00000006210 125 0 0 100 13 11.5044 CTCF 0 genome.wustl.edu 37 16 67654694 67654694 + Missense_Mutation SNP T T C TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 16 67654694 67654694 T C SNP CTCF ENST00000264010 human ensembl 74_37 +1 known missense c.1181 p.L394P 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CTCF HGNC ENSG00000102974 57 0 0 84 10 10.6383 SDF2 0 genome.wustl.edu 37 17 26975987 26975987 + RNA SNP G G A TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 17 26975987 26975987 G A SNP SDF2 ENST00000585749 human ensembl 74_37 -1 known rna NULL NULL 0.009 - - - no_errors SDF2 HGNC ENSG00000132581 77 0 0 51 13 20.3125 RAB11FIP4 0 genome.wustl.edu 37 17 29855754 29855754 + Silent SNP C C T TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 17 29855754 29855754 C T SNP RAB11FIP4 ENST00000325874 human ensembl 74_37 +1 known silent c.1611 p.A537 1.000 NULL pfam_Rab-bd_FIP-RBD,pfscan_EF_hand_dom - no_errors RAB11FIP4 HGNC ENSG00000131242 31 0 0 25 4 13.7931 FBXO47 0 genome.wustl.edu 37 17 37101317 37101317 + Missense_Mutation SNP C C T TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 17 37101317 37101317 C T SNP FBXO47 ENST00000378079 human ensembl 74_37 -1 known missense c.689 p.R230Q 0.997 NULL pfam_F-box_dom,superfamily_F-box_dom,pfscan_F-box_dom - no_errors FBXO47 HGNC ENSG00000204952 69 0 0 72 4 5.26316 ERBB2 0 genome.wustl.edu 37 17 37868208 37868208 + Missense_Mutation SNP C C T TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 17 37868208 37868208 C T SNP ERBB2 ENST00000269571 human ensembl 74_37 +1 known missense c.929 p.S310F 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Furin-like_Cys-rich_dom,superfamily_Growth_fac_rcpt_N_dom 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 ERBB2 HGNC ENSG00000141736 247 0 0 199 61 23.4615 RNF43 0 genome.wustl.edu 37 17 56438233 56438233 + Nonsense_Mutation SNP G G A TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 17 56438233 56438233 G A SNP RNF43 ENST00000407977 human ensembl 74_37 -1 known nonsense c.760 p.Q254* 0.002 NULL pfam_Znf_C3HC4_RING-type,superfamily_PAS,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF43 HGNC ENSG00000108375 53 0 0 43 23 34.8485 NEURL4 0 genome.wustl.edu 37 17 7224756 7224756 + Missense_Mutation SNP C C T TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 17 7224756 7224756 C T SNP NEURL4 ENST00000399464 human ensembl 74_37 -1 known missense c.3122 p.R1041H 1.000 smart_Neu_Z,pfscan_Neu_Z pfam_Neu_Z,superfamily_ConA-like_lec_gl_sf,smart_Neu_Z,pfscan_Neu_Z - no_errors NEURL4 HGNC ENSG00000215041 135 0 0 104 9 7.9646 C3P1 0 genome.wustl.edu 37 19 10166291 10166291 + RNA SNP G G A TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 19 10166291 10166291 G A SNP C3P1 ENST00000495140 human ensembl 74_37 +1 known rna NULL NULL 0.886 - - - no_errors C3P1 HGNC ENSG00000167798 183 0 0 160 30 15.7895 DNASE2 0 genome.wustl.edu 37 19 12986983 12986983 + Missense_Mutation SNP G G A TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 19 12986983 12986983 G A SNP DNASE2 ENST00000222219 human ensembl 74_37 -1 known missense c.904 p.P302S 0.074 pfam_DNase_II pfam_DNase_II - no_errors DNASE2 HGNC ENSG00000105612 138 0 0 91 22 19.469 DDX39A 0 genome.wustl.edu 37 19 14519889 14519889 + Silent SNP A A G TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 19 14519889 14519889 A G SNP DDX39A ENST00000242776 human ensembl 74_37 -1 known silent c.1227 p.N409 0.979 pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX39A HGNC ENSG00000123136 169 0 0 169 16 8.64865 MAP1S 0 genome.wustl.edu 37 19 17837242 17837242 + Missense_Mutation SNP G G A TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 19 17837242 17837242 G A SNP MAP1S ENST00000324096 human ensembl 74_37 +1 known missense c.1049 p.R350H 0.072 NULL NULL - no_errors MAP1S HGNC ENSG00000130479 13 0 0 7 3 30 ZNF569 0 genome.wustl.edu 37 19 37903787 37903787 + Silent SNP A A C TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 19 37903787 37903787 A C SNP ZNF569 ENST00000316950 human ensembl 74_37 -1 known silent c.1773 p.T591 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 ZNF569 HGNC ENSG00000196437 85 0 0 102 14 12.069 RYR1 0 genome.wustl.edu 37 19 38993186 38993186 + Missense_Mutation SNP C C T TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 19 38993186 38993186 C T SNP RYR1 ENST00000359596 human ensembl 74_37 +1 known missense c.7654 p.R2552C 1.000 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 39 0 0 34 3 8.10811 MEIS3 0 genome.wustl.edu 37 19 47912430 47912430 + Nonsense_Mutation SNP G G A TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 19 47912430 47912430 G A SNP MEIS3 ENST00000559524 human ensembl 74_37 -1 known nonsense c.784 p.R262* 1.000 NULL pfam_Homeobox_dom,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors MEIS3 HGNC ENSG00000105419 76 0 0 62 11 15.0685 PRR12 0 genome.wustl.edu 37 19 50102943 50102943 + Missense_Mutation SNP C C T TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 19 50102943 50102943 C T SNP PRR12 ENST00000418929 human ensembl 74_37 +1 novel missense c.4093 p.R1365W 1.000 NULL NULL - no_errors PRR12 HGNC ENSG00000126464 69 0 0 56 12 17.6471 TSKS 0 genome.wustl.edu 37 19 50247605 50247605 + Missense_Mutation SNP C C A TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 19 50247605 50247605 C A SNP TSKS ENST00000246801 human ensembl 74_37 -1 known missense c.1244 p.G415V 1.000 NULL NULL - no_errors TSKS HGNC ENSG00000126467 84 0 0 79 11 12.2222 KDM4B 0 genome.wustl.edu 37 19 5077397 5077397 + Silent SNP G G A TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 19 5077397 5077397 G A SNP KDM4B ENST00000159111 human ensembl 74_37 +1 known silent c.696 p.S232 0.416 pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4B HGNC ENSG00000127663 328 0 0 323 48 12.938 TTN-AS1 0 genome.wustl.edu 37 2 179469651 179469651 + RNA SNP T T A TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 2 179469651 179469651 T A SNP TTN-AS1 ENST00000419746 human ensembl 74_37 +1 known rna NULL NULL 0.656 - - - no_errors TTN-AS1 HGNC ENSG00000237298 61 0 0 75 10 11.7647 TTN 0 genome.wustl.edu 37 2 179595379 179595379 + Missense_Mutation SNP C C A TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 2 179595379 179595379 C A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.14149 p.A4717S 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,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 81 0 0 76 25 24.7525 TTN 0 genome.wustl.edu 37 2 179634998 179634998 + Silent SNP G G A TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 2 179634998 179634998 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.8430 p.A2810 1.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub 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 116 0 0 133 12 8.27586 BMPR2 0 genome.wustl.edu 37 2 203383565 203383565 + Nonsense_Mutation SNP T T A TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 2 203383565 203383565 T A SNP BMPR2 ENST00000374580 human ensembl 74_37 +1 known nonsense c.642 p.Y214* 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,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors BMPR2 HGNC ENSG00000204217 68 0 0 66 15 18.5185 EPHA4 0 genome.wustl.edu 37 2 222291236 222291236 + Missense_Mutation SNP A A C TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 2 222291236 222291236 A C SNP EPHA4 ENST00000281821 human ensembl 74_37 -1 known missense c.2794 p.F932V 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA4 HGNC ENSG00000116106 43 0 0 43 7 14 ATG16L1 0 genome.wustl.edu 37 2 234198933 234198933 + Missense_Mutation SNP T T C TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 2 234198933 234198933 T C SNP ATG16L1 ENST00000392017 human ensembl 74_37 +1 known missense c.1364 p.I455T 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_Autophagy-rel_prot_16,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Prefoldin,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors ATG16L1 HGNC ENSG00000085978 102 0 0 101 49 32.6667 CEBPZ 0 genome.wustl.edu 37 2 37441097 37441097 + Nonsense_Mutation SNP T T A TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 2 37441097 37441097 T A SNP CEBPZ ENST00000234170 human ensembl 74_37 -1 known nonsense c.2455 p.K819* 1.000 superfamily_ARM-type_fold pfam_CCAAT-binding_factor,superfamily_ARM-type_fold - no_errors CEBPZ HGNC ENSG00000115816 11 0 0 24 5 17.2414 KIF16B 0 genome.wustl.edu 37 20 16348155 16348155 + Missense_Mutation SNP G G A TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 20 16348155 16348155 G A SNP KIF16B ENST00000408042 human ensembl 74_37 -1 known missense c.3815 p.T1272I 1.000 NULL pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIF16B HGNC ENSG00000089177 75 0 0 88 6 6.38298 MYH7B 0 genome.wustl.edu 37 20 33586876 33586876 + Missense_Mutation SNP G G A TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 20 33586876 33586876 G A SNP MYH7B ENST00000262873 human ensembl 74_37 +1 novel missense c.4334 p.R1445Q 0.993 pfam_Myosin_tail 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 50 0 0 27 6 18.1818 SRC 0 genome.wustl.edu 37 20 36031241 36031241 + Missense_Mutation SNP C C G TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 20 36031241 36031241 C G SNP SRC ENST00000360723 human ensembl 74_37 +1 known missense c.1378 p.L460V 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain - no_errors SRC HGNC ENSG00000197122 113 0 0 111 14 11.2 TSHZ2 0 genome.wustl.edu 37 20 51872113 51872113 + Missense_Mutation SNP T T A TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 20 51872113 51872113 T A SNP TSHZ2 ENST00000371497 human ensembl 74_37 +1 known missense c.2116 p.L706M 1.000 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors TSHZ2 HGNC ENSG00000182463 90 0 0 71 10 12.3457 PHACTR3 0 genome.wustl.edu 37 20 58349321 58349321 + Missense_Mutation SNP G G A TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 20 58349321 58349321 G A SNP PHACTR3 ENST00000371015 human ensembl 74_37 +1 known missense c.950 p.G317E 0.928 NULL pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat - no_errors PHACTR3 HGNC ENSG00000087495 45 0 0 52 5 8.77193 CACNA1I 0 genome.wustl.edu 37 22 40043924 40043924 + Silent SNP G G A TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 22 40043924 40043924 G A SNP CACNA1I ENST00000336649 human ensembl 74_37 +1 known silent c.1560 p.S520 0.000 NULL pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1 - no_errors CACNA1I HGNC ENSG00000100346 54 0 0 60 6 9.09091 SBF1 0 genome.wustl.edu 37 22 50901807 50901807 + Missense_Mutation SNP C C T TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 22 50901807 50901807 C T SNP SBF1 ENST00000380817 human ensembl 74_37 -1 known missense c.1804 p.A602T 0.979 pfam_SBF2 pfam_SBF2,pfam_DENN_dom,pfam_uDENN_dom,pfam_Myotubularin-like_Pase_dom,pfam_dDENN_dom,pfam_GRAM,pfam_Pleckstrin_homology,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_GRAM,smart_Pleckstrin_homology,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_Pleckstrin_homology - no_errors SBF1 HGNC ENSG00000100241 19 0 0 15 5 25 KIAA2018 0 genome.wustl.edu 37 3 113379292 113379292 + Missense_Mutation SNP C C A TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 3 113379292 113379292 C A SNP KIAA2018 ENST00000316407 human ensembl 74_37 -1 known missense c.1237 p.D413Y 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors KIAA2018 HGNC ENSG00000176542 52 0 0 88 14 13.7255 ZBTB20 0 genome.wustl.edu 37 3 114070254 114070254 + Missense_Mutation SNP C C A TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 3 114070254 114070254 C A SNP ZBTB20 ENST00000474710 human ensembl 74_37 -1 known missense c.671 p.S224I 1.000 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB20 HGNC ENSG00000181722 115 0 0 105 15 12.5 CNTN6 0 genome.wustl.edu 37 3 1371584 1371584 + Missense_Mutation SNP G G T TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 3 1371584 1371584 G T SNP CNTN6 ENST00000350110 human ensembl 74_37 +1 known missense c.1329 p.W443C 1.000 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN6 HGNC ENSG00000134115 45 0 0 31 8 20.5128 PLSCR2 0 genome.wustl.edu 37 3 146173071 146173071 + Silent SNP T T C TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 3 146173071 146173071 T C SNP PLSCR2 ENST00000336685 human ensembl 74_37 -1 known silent c.276 p.R92 1.000 pfam_Scramblase pfam_Scramblase,superfamily_Tubby_C-like - no_errors PLSCR2 HGNC ENSG00000163746 71 0 0 82 8 8.88889 PIK3CA 0 genome.wustl.edu 37 3 178916944 178916944 + Missense_Mutation SNP A A G TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 3 178916944 178916944 A G SNP PIK3CA ENST00000263967 human ensembl 74_37 +1 known missense c.331 p.K111E 1.000 NULL pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 67 0 0 69 9 11.5385 CHRD 0 genome.wustl.edu 37 3 184101337 184101337 + Silent SNP G G A TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 3 184101337 184101337 G A SNP CHRD ENST00000204604 human ensembl 74_37 +1 known silent c.1347 p.E449 1.000 pfam_CHRD,smart_CHRD,pirsf_Chordin,pfscan_CHRD pfam_CHRD,pfam_VWF_C,smart_VWF_C,smart_CHRD,pirsf_Chordin,pfscan_CHRD,pfscan_VWF_C - no_errors CHRD HGNC ENSG00000090539 86 0 0 82 10 10.8696 AHSG 0 genome.wustl.edu 37 3 186330959 186330959 + Missense_Mutation SNP T T G TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 3 186330959 186330959 T G SNP AHSG ENST00000411641 human ensembl 74_37 +1 known missense c.29 p.L10R 0.203 NULL pfam_Prot_inh_cystat,smart_Prot_inh_cystat - no_errors AHSG HGNC ENSG00000145192 51 0 0 57 5 8.06452 ACAP2 0 genome.wustl.edu 37 3 195000014 195000014 + RNA SNP T T A TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 3 195000014 195000014 T A SNP ACAP2 ENST00000472860 human ensembl 74_37 -1 putative rna NULL NULL 0.025 - - - no_errors ACAP2 HGNC ENSG00000114331 15 0 0 17 5 22.7273 LRRC3B 0 genome.wustl.edu 37 3 26751343 26751343 + Missense_Mutation SNP A A T TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 3 26751343 26751343 A T SNP LRRC3B ENST00000396641 human ensembl 74_37 +1 known missense c.180 p.R60S 1.000 pfam_LRR-contain_N,smart_LRR-contain_N pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC3B HGNC ENSG00000179796 69 0 0 56 4 6.66667 ZNF620 0 genome.wustl.edu 37 3 40553905 40553905 + Missense_Mutation SNP C C A TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 3 40553905 40553905 C A SNP ZNF620 ENST00000314529 human ensembl 74_37 +1 known missense c.164 p.T55N 0.109 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 ZNF620 HGNC ENSG00000177842 36 0 0 31 2 6.06061 TRAK1 0 genome.wustl.edu 37 3 42251706 42251706 + Missense_Mutation SNP G G A TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 3 42251706 42251706 G A SNP TRAK1 ENST00000341421 human ensembl 74_37 +1 known missense c.2018 p.R673H 1.000 NULL pfam_HAP1_N,pfam_Traffickng_kinesin-bd_prot_dom - no_errors TRAK1 HGNC ENSG00000182606 337 0 0 300 42 12.2807 FEZF2 0 genome.wustl.edu 37 3 62358293 62358293 + Missense_Mutation SNP G G A TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 3 62358293 62358293 G A SNP FEZF2 ENST00000283268 human ensembl 74_37 -1 known missense c.251 p.P84L 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors FEZF2 HGNC ENSG00000153266 48 0 0 43 7 14 UVSSA 0 genome.wustl.edu 37 4 1369243 1369243 + Silent SNP G G A TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 4 1369243 1369243 G A SNP UVSSA ENST00000389851 human ensembl 74_37 +1 known silent c.1380 p.A460 0.915 NULL pfam_DUF2043,superfamily_ENTH_VHS - no_errors UVSSA HGNC ENSG00000163945 142 0 0 113 18 13.7405 NOP14 0 genome.wustl.edu 37 4 2952857 2952857 + Missense_Mutation SNP C C T TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 4 2952857 2952857 C T SNP NOP14 ENST00000416614 human ensembl 74_37 -1 known missense c.986 p.R329H 0.581 pfam_Nop14 pfam_Nop14 - no_errors NOP14 HGNC ENSG00000087269 155 0 0 181 29 13.8095 KIAA1211 0 genome.wustl.edu 37 4 57181587 57181587 + Missense_Mutation SNP G G A TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 4 57181587 57181587 G A SNP KIAA1211 ENST00000504228 human ensembl 74_37 +1 known missense c.1919 p.R640Q 0.004 NULL NULL - no_errors KIAA1211 HGNC ENSG00000109265 43 0 0 30 5 14.2857 UGT2B17 0 genome.wustl.edu 37 4 69431299 69431299 + Silent SNP G G A TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 4 69431299 69431299 G A SNP UGT2B17 ENST00000317746 human ensembl 74_37 -1 known silent c.864 p.P288 0.278 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2B17 HGNC ENSG00000197888 55 0 0 50 19 27.5362 ATOH1 0 genome.wustl.edu 37 4 94750923 94750923 + Silent SNP G G A TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 4 94750923 94750923 G A SNP ATOH1 ENST00000306011 human ensembl 74_37 +1 known silent c.846 p.A282 0.666 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors ATOH1 HGNC ENSG00000172238 104 0 0 92 8 8 PCDHA3 0 genome.wustl.edu 37 5 140182233 140182233 + Missense_Mutation SNP C C T TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 5 140182233 140182233 C T SNP PCDHA3 ENST00000522353 human ensembl 74_37 +1 known missense c.1451 p.A484V 0.067 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA3 HGNC ENSG00000255408 240 0 0 200 40 16.6667 PCDHA3 0 genome.wustl.edu 37 5 140183035 140183035 + Silent SNP G G A TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 5 140183035 140183035 G A SNP PCDHA3 ENST00000522353 human ensembl 74_37 +1 known silent c.2253 p.S751 0.040 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA3 HGNC ENSG00000255408 182 0 0 138 25 15.3374 ARHGEF37 0 genome.wustl.edu 37 5 148977438 148977438 + Missense_Mutation SNP C C T TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 5 148977438 148977438 C T SNP ARHGEF37 ENST00000333677 human ensembl 74_37 +1 known missense c.106 p.R36W 0.007 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_BAR_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF37 HGNC ENSG00000183111 36 0 0 28 7 20 KIF4B 0 genome.wustl.edu 37 5 154395311 154395311 + Missense_Mutation SNP G G A TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 5 154395311 154395311 G A SNP KIF4B ENST00000435029 human ensembl 74_37 +1 known missense c.1892 p.R631H 0.422 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF4B HGNC ENSG00000226650 86 0 0 141 20 12.4224 CREBRF 0 genome.wustl.edu 37 5 172517427 172517427 + Missense_Mutation SNP G G A TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 5 172517427 172517427 G A SNP CREBRF ENST00000540014 human ensembl 74_37 +1 known missense c.245 p.G82D 0.987 NULL NULL - no_errors CREBRF HGNC ENSG00000164463 43 0 0 59 11 15.7143 FLT4 0 genome.wustl.edu 37 5 180056397 180056397 + Missense_Mutation SNP G G A TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 5 180056397 180056397 G A SNP FLT4 ENST00000261937 human ensembl 74_37 -1 known missense c.847 p.R283C 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom,prints_VEGFR3_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_VEGFR3_rcpt - no_errors FLT4 HGNC ENSG00000037280 80 0 0 42 11 20.7547 PRDM9 0 genome.wustl.edu 37 5 23510114 23510114 + Missense_Mutation SNP A A C TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 5 23510114 23510114 A C SNP PRDM9 ENST00000296682 human ensembl 74_37 +1 known missense c.279 p.E93D 1.000 pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_SSXRD_motif,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors PRDM9 HGNC ENSG00000164256 51 0 0 43 7 14 PRDM9 0 genome.wustl.edu 37 5 23522456 23522456 + Silent SNP A A T TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 5 23522456 23522456 A T SNP PRDM9 ENST00000296682 human ensembl 74_37 +1 known silent c.552 p.R184 0.326 pfam_SSXRD_motif pfam_Znf_C2H2,pfam_SSXRD_motif,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors PRDM9 HGNC ENSG00000164256 130 0 0 134 9 6.29371 CDH9 0 genome.wustl.edu 37 5 26902673 26902673 + Missense_Mutation SNP A A C TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 5 26902673 26902673 A C SNP CDH9 ENST00000231021 human ensembl 74_37 -1 known missense c.1165 p.L389V 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 CDH9 HGNC ENSG00000113100 65 0 0 66 13 16.4557 OSMR 0 genome.wustl.edu 37 5 38876363 38876363 + Missense_Mutation SNP G G A TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 5 38876363 38876363 G A SNP OSMR ENST00000274276 human ensembl 74_37 +1 known missense c.134 p.R45H 0.000 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors OSMR HGNC ENSG00000145623 51 0 0 61 10 14.0845 NBPF22P 0 genome.wustl.edu 37 5 85578578 85578578 + RNA SNP G G A TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 5 85578578 85578578 G A SNP NBPF22P ENST00000590707 human ensembl 74_37 +1 known rna NULL NULL 0.033 - - - no_errors NBPF22P HGNC ENSG00000205449 100 0 0 78 13 14.2857 GPR98 0 genome.wustl.edu 37 5 90059209 90059209 + Missense_Mutation SNP G G A TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 5 90059209 90059209 G A SNP GPR98 ENST00000405460 human ensembl 74_37 +1 known missense c.12208 p.V4070I 0.787 pfam_Calx_beta,smart_Calx_beta pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC ENSG00000164199 29 0 0 43 6 12.2449 SYCP2L 0 genome.wustl.edu 37 6 10894339 10894339 + Nonsense_Mutation SNP C C T TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 6 10894339 10894339 C T SNP SYCP2L ENST00000283141 human ensembl 74_37 +1 known nonsense c.238 p.Q80* 0.855 NULL NULL - no_errors SYCP2L HGNC ENSG00000153157 44 0 0 61 15 19.7368 SOGA3 0 genome.wustl.edu 37 6 127796968 127796968 + Missense_Mutation SNP G G A TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 6 127796968 127796968 G A SNP SOGA3 ENST00000368268 human ensembl 74_37 -1 known missense c.2203 p.R735C 1.000 NULL pfam_SOGA - no_errors SOGA3 HGNC ENSG00000214338 198 0 0 134 26 16.25 HIVEP2 0 genome.wustl.edu 37 6 143090937 143090937 + Missense_Mutation SNP C C T TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 6 143090937 143090937 C T SNP HIVEP2 ENST00000012134 human ensembl 74_37 -1 known missense c.4939 p.V1647M 1.000 NULL pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP2 HGNC ENSG00000010818 70 0 0 76 13 14.6067 TTLL2 0 genome.wustl.edu 37 6 167753692 167753692 + Missense_Mutation SNP G G A TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 6 167753692 167753692 G A SNP TTLL2 ENST00000239587 human ensembl 74_37 +1 known missense c.304 p.V102I 0.953 NULL pfam_TTL/TTLL_fam - no_errors TTLL2 HGNC ENSG00000120440 49 0 0 42 25 37.3134 HIST1H2BC 0 genome.wustl.edu 37 6 26123998 26123998 + Silent SNP C C A TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 6 26123998 26123998 C A SNP HIST1H2BC ENST00000314332 human ensembl 74_37 -1 known silent c.135 p.V45 1.000 pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST1H2BC HGNC ENSG00000180596 253 0 0 236 26 9.92366 HSPA1L 0 genome.wustl.edu 37 6 31778313 31778313 + Silent SNP C C T TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 6 31778313 31778313 C T SNP HSPA1L ENST00000375654 human ensembl 74_37 -1 known silent c.1437 p.T479 0.999 pfam_Hsp_70_fam,prints_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA1L HGNC ENSG00000204390 138 0 0 120 16 11.7647 TNXB 0 genome.wustl.edu 37 6 32010312 32010312 + Missense_Mutation SNP T T C TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 6 32010312 32010312 T C SNP TNXB ENST00000375247 human ensembl 74_37 -1 known missense c.12124 p.S4042G 0.998 pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom 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 53 0 0 44 4 8.33333 COL11A2 0 genome.wustl.edu 37 6 33136332 33136332 + Silent SNP G G A TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 6 33136332 33136332 G A SNP COL11A2 ENST00000341947 human ensembl 74_37 -1 known silent c.3924 p.T1308 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL11A2 HGNC ENSG00000204248 50 0 0 42 7 14.2857 PTCHD4 0 genome.wustl.edu 37 6 48036017 48036017 + Missense_Mutation SNP C C A TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 6 48036017 48036017 C A SNP PTCHD4 ENST00000339488 human ensembl 74_37 -1 known missense c.375 p.L125F 1.000 NULL pfam_Patched,pfscan_SSD - no_errors PTCHD4 HGNC ENSG00000244694 135 0 0 112 19 14.5038 HMGCLL1 0 genome.wustl.edu 37 6 55304324 55304324 + Missense_Mutation SNP C C T TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 6 55304324 55304324 C T SNP HMGCLL1 ENST00000398661 human ensembl 74_37 -1 known missense c.919 p.G307R 1.000 pfam_PYR_CT,pfscan_PYR_CT pfam_PYR_CT,pfscan_PYR_CT - no_errors HMGCLL1 HGNC ENSG00000146151 83 0 0 88 12 12 COL9A1 0 genome.wustl.edu 37 6 70990553 70990553 + Missense_Mutation SNP G G T TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 6 70990553 70990553 G T SNP COL9A1 ENST00000357250 human ensembl 74_37 -1 known missense c.937 p.P313T 0.992 pfam_Collagen pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL9A1 HGNC ENSG00000112280 26 0 0 31 4 11.4286 RELN 0 genome.wustl.edu 37 7 103292224 103292224 + Missense_Mutation SNP T T G TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 7 103292224 103292224 T G SNP RELN ENST00000424685 human ensembl 74_37 -1 known missense c.1776 p.E592D 0.998 superfamily_Sialidases 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 43 0 0 31 4 11.4286 SMO 0 genome.wustl.edu 37 7 128845479 128845479 + Missense_Mutation SNP C C T TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 7 128845479 128845479 C T SNP SMO ENST00000249373 human ensembl 74_37 +1 known missense c.776 p.S259L 1.000 pfam_Frizzled,pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_Frizzled,pfam_Frizzled_dom,pfam_GPCR_2_secretin-like,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors SMO HGNC ENSG00000128602 140 0 0 112 14 11.1111 MGAM 0 genome.wustl.edu 37 7 141759688 141759688 + Silent SNP T T C TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 7 141759688 141759688 T C SNP MGAM ENST00000549489 human ensembl 74_37 +1 known silent c.3981 p.P1327 0.972 pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil - no_errors MGAM HGNC ENSG00000257335 17 0 0 15 4 21.0526 PDE1C 0 genome.wustl.edu 37 7 31862790 31862790 + Silent SNP C C T TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 7 31862790 31862790 C T SNP PDE1C ENST00000321453 human ensembl 74_37 -1 known silent c.1479 p.P493 0.026 NULL pfam_PDEase_catalytic_dom,pfam_PDEase_N,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE1C HGNC ENSG00000154678 67 0 0 92 5 5.15464 GLI3 0 genome.wustl.edu 37 7 42007484 42007484 + Missense_Mutation SNP C C A TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 7 42007484 42007484 C A SNP GLI3 ENST00000395925 human ensembl 74_37 -1 known missense c.2141 p.S714I 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI3 HGNC ENSG00000106571 130 0 0 136 25 15.528 HECW1 0 genome.wustl.edu 37 7 43503377 43503377 + Nonsense_Mutation SNP G G T TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 7 43503377 43503377 G T SNP HECW1 ENST00000395891 human ensembl 74_37 +1 known nonsense c.2770 p.E924* 0.992 NULL pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_WW_dom,superfamily_C2_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom - no_errors HECW1 HGNC ENSG00000002746 156 0 0 168 14 7.69231 MYO1G 0 genome.wustl.edu 37 7 45005235 45005235 + Splice_Site SNP C C A TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 7 45005235 45005235 C A SNP MYO1G ENST00000258787 human ensembl 74_37 -1 known splice_site c.2381+1 e17+1 1.000 - - - no_errors MYO1G HGNC ENSG00000136286 89 0 0 75 14 15.7303 RNF19A 0 genome.wustl.edu 37 8 101300277 101300277 + Silent SNP T T A TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 8 101300277 101300277 T A SNP RNF19A ENST00000341084 human ensembl 74_37 -1 known silent c.126 p.R42 1.000 NULL pfam_Znf_C6HC,smart_Znf_RING,smart_Znf_C6HC,pfscan_Znf_RING - no_errors RNF19A HGNC ENSG00000034677 56 0 0 48 21 30.4348 CSMD3 0 genome.wustl.edu 37 8 113933924 113933924 + Missense_Mutation SNP T T C TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 8 113933924 113933924 T C SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.1565 p.K522R 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 82 0 0 74 19 20.4301 LOXL2 0 genome.wustl.edu 37 8 23225708 23225708 + Missense_Mutation SNP C C T TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 8 23225708 23225708 C T SNP LOXL2 ENST00000389131 human ensembl 74_37 -1 known missense c.157 p.V53M 0.336 superfamily_Srcr_rcpt-rel pfam_Lysyl_oxidase,pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_Lysyl_oxidase,prints_SRCR - no_errors LOXL2 HGNC ENSG00000134013 95 0 0 77 12 13.4831 MMP16 0 genome.wustl.edu 37 8 89209420 89209420 + Missense_Mutation SNP T T G TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 8 89209420 89209420 T G SNP MMP16 ENST00000286614 human ensembl 74_37 -1 known missense c.248 p.N83T 1.000 pirsf_Pept_M10A_Metazoans,pfam_Peptidoglycan-bd-like,superfamily_Peptidoglycan-bd-like pirsf_Pept_M10A_Metazoans,pfam_Hemopexin-like_repeat,pfam_Pept_M10_metallopeptidase,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A - no_errors MMP16 HGNC ENSG00000156103 39 0 0 45 8 15.0943 ADAMTSL2 0 genome.wustl.edu 37 9 136409627 136409627 + Nonsense_Mutation SNP C C T TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 9 136409627 136409627 C T SNP ADAMTSL2 ENST00000393061 human ensembl 74_37 +1 known nonsense c.1045 p.R349* 0.983 pfam_ADAM_spacer1 pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTSL2 HGNC ENSG00000197859 130 0 0 109 20 15.5039 OLFM1 0 genome.wustl.edu 37 9 138012012 138012012 + Silent SNP C C T TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 9 138012012 138012012 C T SNP OLFM1 ENST00000371793 human ensembl 74_37 +1 known silent c.1446 p.S482 0.334 NULL pfam_Olfac-like,pfam_Noelin-1,superfamily_Quinonprotein_ADH-like_supfam,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFM1 HGNC ENSG00000130558 72 0 0 86 7 7.52688 SPATA31A6 0 genome.wustl.edu 37 9 43626720 43626720 + Missense_Mutation SNP T T G TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 9 43626720 43626720 T G SNP SPATA31A6 ENST00000332857 human ensembl 74_37 -1 known missense c.1967 p.K656T 0.000 NULL NULL - no_errors SPATA31A6 HGNC ENSG00000185775 239 0 0 267 28 9.49153 H2BFWT 0 genome.wustl.edu 37 X 103268176 103268176 + Silent SNP C C T TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 X 103268176 103268176 C T SNP H2BFWT ENST00000217926 human ensembl 74_37 -1 known silent c.57 p.S19 0.000 NULL pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors H2BFWT HGNC ENSG00000123569 42 0 0 45 6 11.7647 TBC1D8B 0 genome.wustl.edu 37 X 106066491 106066491 + Missense_Mutation SNP C C T TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 X 106066491 106066491 C T SNP TBC1D8B ENST00000357242 human ensembl 74_37 +1 known missense c.622 p.L208F 1.000 pfam_GRAM,smart_GRAM pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_hand_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D8B HGNC ENSG00000133138 40 0 0 50 4 7.40741 KIAA1210 0 genome.wustl.edu 37 X 118222008 118222008 + Missense_Mutation SNP T T C TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 X 118222008 118222008 T C SNP KIAA1210 ENST00000402510 human ensembl 74_37 -1 known missense c.3185 p.K1062R 0.000 NULL NULL - no_errors KIAA1210 HGNC ENSG00000250423 162 0 0 157 16 9.24855 FRMPD4 0 genome.wustl.edu 37 X 12735634 12735634 + Missense_Mutation SNP C C T TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 X 12735634 12735634 C T SNP FRMPD4 ENST00000380682 human ensembl 74_37 +1 known missense c.2689 p.R897W 1.000 NULL pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ,pfscan_WW_dom - no_errors FRMPD4 HGNC ENSG00000169933 118 0 0 129 27 17.3077 IGSF1 0 genome.wustl.edu 37 X 130412056 130412056 + Missense_Mutation SNP T T A TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 X 130412056 130412056 T A SNP IGSF1 ENST00000370903 human ensembl 74_37 -1 known missense c.2109 p.E703D 0.694 smart_Ig_sub,smart_Ig_sub2 pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors IGSF1 HGNC ENSG00000147255 116 0 0 123 12 8.88889 GPR112 0 genome.wustl.edu 37 X 135430802 135430802 + Missense_Mutation SNP T T C TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 X 135430802 135430802 T C SNP GPR112 ENST00000370652 human ensembl 74_37 +1 known missense c.4937 p.L1646P 0.000 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR112 HGNC ENSG00000156920 179 0 0 251 35 12.2378 SLITRK2 0 genome.wustl.edu 37 X 144903992 144903992 + Silent SNP T T C TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 X 144903992 144903992 T C SNP SLITRK2 ENST00000370490 human ensembl 74_37 +1 known silent c.49 p.L17 1.000 NULL pfam_Leu-rich_rpt,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK2 HGNC ENSG00000185985 50 0 0 63 4 5.97015 PLXNB3 0 genome.wustl.edu 37 X 153040317 153040317 + Silent SNP C C T TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 X 153040317 153040317 C T SNP PLXNB3 ENST00000538282 human ensembl 74_37 +1 known silent c.2817 p.G939 0.000 NULL pfam_IPT,pfam_Plexin_repeat,superfamily_Ig_E-set,superfamily_Plexin-like_fold,superfamily_Semap_dom,smart_Plexin-like_fold,smart_IPT - no_errors PLXNB3 HGNC ENSG00000198753 134 0 0 126 24 16 L1CAM 0 genome.wustl.edu 37 X 153129810 153129810 + Missense_Mutation SNP G G A TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 X 153129810 153129810 G A SNP L1CAM ENST00000543994 human ensembl 74_37 -1 known missense c.3295 p.R1099W 0.000 superfamily_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors L1CAM HGNC ENSG00000198910 257 1 0.387597 252 28 10 PCYT1B 0 genome.wustl.edu 37 X 24597470 24597470 + Missense_Mutation SNP C C T TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 X 24597470 24597470 C T SNP PCYT1B ENST00000379144 human ensembl 74_37 -1 known missense c.671 p.G224E 1.000 NULL pfam_Cyt_trans-like,tigrfam_Cyt_trans-like - no_errors PCYT1B HGNC ENSG00000102230 150 0 0 173 16 8.46561 FAM47A 0 genome.wustl.edu 37 X 34148983 34148983 + Silent SNP G G A TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 X 34148983 34148983 G A SNP FAM47A ENST00000346193 human ensembl 74_37 -1 known silent c.1413 p.P471 0.026 NULL NULL - no_errors FAM47A HGNC ENSG00000185448 111 0 0 114 22 16.1765 TMEM47 0 genome.wustl.edu 37 X 34657453 34657453 + Missense_Mutation SNP A A G TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 X 34657453 34657453 A G SNP TMEM47 ENST00000275954 human ensembl 74_37 -1 known missense c.278 p.L93P 1.000 pfam_Lipome_HGMIC_fus_partner-like pfam_Lipome_HGMIC_fus_partner-like - no_errors TMEM47 HGNC ENSG00000147027 16 0 0 22 3 12 RGN 0 genome.wustl.edu 37 X 46949185 46949185 + Silent SNP T T C TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 X 46949185 46949185 T C SNP RGN ENST00000336169 human ensembl 74_37 +1 known silent c.357 p.A119 0.026 pfam_SGL pfam_SGL,prints_SMP-30,prints_Regucalcin - no_errors RGN HGNC ENSG00000130988 62 0 0 58 6 9.375 ELK1 0 genome.wustl.edu 37 X 47509899 47509899 + RNA SNP C C A TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 X 47509899 47509899 C A SNP ELK1 ENST00000468956 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors ELK1 HGNC ENSG00000126767 51 0 0 54 7 11.4754 PRICKLE3 0 genome.wustl.edu 37 X 49032336 49032336 + Missense_Mutation SNP G G A TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 X 49032336 49032336 G A SNP PRICKLE3 ENST00000376317 human ensembl 74_37 -1 known missense c.1534 p.R512C 0.000 NULL pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors PRICKLE3 HGNC ENSG00000012211 70 0 0 78 8 9.30233 ALAS2 0 genome.wustl.edu 37 X 55050237 55050237 + Missense_Mutation SNP T T C TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 X 55050237 55050237 T C SNP ALAS2 ENST00000330807 human ensembl 74_37 -1 known missense c.368 p.E123G 0.001 NULL pfam_Aminotransferase_I/II,pfam_5aminolev_synth_preseq,pfam_Aminotrans_V/Cys_dSase,pfam_Cys/Met-Metab_PyrdxlP-dep_enz,superfamily_PyrdxlP-dep_Trfase,tigrfam_4pyrrol_synth_NH2levulA_synth - no_errors ALAS2 HGNC ENSG00000158578 46 0 0 39 5 11.3636 CITED1 0 genome.wustl.edu 37 X 71521802 71521802 + Missense_Mutation SNP G G T TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 X 71521802 71521802 G T SNP CITED1 ENST00000431381 human ensembl 74_37 -1 known missense c.431 p.A144E 0.064 pfam_CITED pfam_CITED - no_errors CITED1 HGNC ENSG00000125931 46 0 0 43 4 8.51064 KAL1 0 genome.wustl.edu 37 X 8538633 8538633 + Silent SNP G G T TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 X 8538633 8538633 G T SNP KAL1 ENST00000262648 human ensembl 74_37 -1 known silent c.969 p.I323 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_WAP-type_4-diS_core,superfamily_Fibronectin_type3,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,smart_Fibronectin_type3,pfscan_Fibronectin_type3,prints_WAP-type_4-diS_core - no_errors KAL1 HGNC ENSG00000011201 45 0 0 34 6 15 KAL1 0 genome.wustl.edu 37 X 8538634 8538634 + Missense_Mutation SNP A A G TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 X 8538634 8538634 A G SNP KAL1 ENST00000262648 human ensembl 74_37 -1 known missense c.968 p.I323T 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_WAP-type_4-diS_core,superfamily_Fibronectin_type3,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,smart_Fibronectin_type3,pfscan_Fibronectin_type3,prints_WAP-type_4-diS_core - no_errors KAL1 HGNC ENSG00000011201 43 0 0 34 5 12.8205 TBL1X 0 genome.wustl.edu 37 X 9622286 9622286 + Silent SNP G G A TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 X 9622286 9622286 G A SNP TBL1X ENST00000217964 human ensembl 74_37 +1 known silent c.135 p.S45 0.019 NULL pfam_WD40_repeat,pfam_LisH_dimerisation_subgr,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors TBL1X HGNC ENSG00000101849 54 0 0 52 6 10.3448 SHROOM2 0 genome.wustl.edu 37 X 9900503 9900503 + Silent SNP A A G TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 X 9900503 9900503 A G SNP SHROOM2 ENST00000380913 human ensembl 74_37 +1 known silent c.3180 p.P1060 0.001 NULL pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM2 HGNC ENSG00000146950 46 0 0 32 3 8.57143 PTCH2 0 genome.wustl.edu 37 1 45292286 45292286 + Frame_Shift_Del DEL G G - TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 1 45292286 45292286 G - DEL PTCH2 ENST00000372192 human ensembl 74_37 -1 known frame_shift_del c.2850 p.F951fs 1.000 pfam_Patched,tigrfam_TM_rcpt_patched pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched - no_errors PTCH2 HGNC ENSG00000117425 57 0 0 45 6 11.7647 OR4C6 0 genome.wustl.edu 37 11 55432816 55432816 + Frame_Shift_Del DEL T T - TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 11 55432816 55432816 T - DEL OR4C6 ENST00000314259 human ensembl 74_37 +1 known frame_shift_del c.174 p.L61fs 0.052 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C6 HGNC ENSG00000181903 136 0 0 136 15 9.93377 ENSG00000204584 0 genome.wustl.edu 37 17 47925055 47925056 + RNA DEL AC AC - TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 AC AC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 17 47925055 47925056 AC - DEL ENSG00000204584 ENST00000376609 human ensembl 74_37 +1 known rna NULL NULL 0.072:0.089 - - - no_errors RP11-304F15.3 Clone_based_vega_gene ENSG00000204584 10 0 0 4 2 33.3333 CCDC178 0 genome.wustl.edu 37 18 30913143 30913143 + Frame_Shift_Del DEL T T - TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 18 30913143 30913143 T - DEL CCDC178 ENST00000406524 human ensembl 74_37 -1 known frame_shift_del c.874 p.M292fs 0.000 NULL NULL - no_errors CCDC178 HGNC ENSG00000166960 36 0 0 36 5 12.1951 KCNIP3 0 genome.wustl.edu 37 2 96049918 96049919 + RNA DEL AC AC - TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 AC AC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 2 96049918 96049919 AC - DEL KCNIP3 ENST00000377181 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors KCNIP3 HGNC ENSG00000115041 13 0 0 10 5 33.3333 TGFBR2 0 genome.wustl.edu 37 3 30691807 30691807 + Frame_Shift_Del DEL C C - TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 3 30691807 30691807 C - DEL TGFBR2 ENST00000359013 human ensembl 74_37 +1 known frame_shift_del c.384 p.K130fs 1.000 pirsf_Transform_growth_fac-b_typ-2,pfam_Transforming_GF_b_rcpt_2_ecto pirsf_Transform_growth_fac-b_typ-2,pfam_Transforming_GF_b_rcpt_2_ecto,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,prints_TGFB_receptor,pfscan_Prot_kinase_dom - no_errors TGFBR2 HGNC ENSG00000163513 104 0 0 89 24 21.2389 MAP7D3 0 genome.wustl.edu 37 X 135310817 135310824 + Frame_Shift_Del DEL CTCTTTTT CTCTTTTT - TCGA-BR-8588-01A-11D-2394-08 TCGA-BR-8588-10A-01D-2394-08 CTCTTTTT CTCTTTTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0fbb26a6-0430-47b7-8f85-9166e8b4130b 907aa997-170c-40e5-9e28-6d93395e5ae2 X 135310817 135310824 CTCTTTTT - DEL MAP7D3 ENST00000370663 human ensembl 74_37 -1 known frame_shift_del c.1797_1790 p.E597fs 0.003:0.041:0.052:0.048:0.029:0.007:0.000:0.000 pfam_MAP7 pfam_MAP7 - no_errors MAP7D3 HGNC ENSG00000129680 47 0 0 73 9 10.9756