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 LRRC39 0 genome.wustl.edu 37 1 100614640 100614640 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 100614640 100614640 G A SNP LRRC39 ENST00000342895 human ensembl 74_37 -1 known silent c.966 p.N322 0.028 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC39 HGNC ENSG00000122477 68 0 0 38 22 36.6667 COL11A1 0 genome.wustl.edu 37 1 103387077 103387077 + Silent SNP A A C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 103387077 103387077 A C SNP COL11A1 ENST00000358392 human ensembl 74_37 -1 known silent c.3741 p.A1247 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 COL11A1 HGNC ENSG00000060718 104 0 0 60 9 13.0435 AMY2B 0 genome.wustl.edu 37 1 104120455 104120455 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 104120455 104120455 A G SNP AMY2B ENST00000361355 human ensembl 74_37 +1 known missense c.1334 p.N445S 1.000 pfam_A-amylase_b_C,smart_A-amylase_b_C pfam_Glyco_hydro_13_cat_dom,pfam_A-amylase_b_C,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom,smart_A-amylase_b_C,prints_Alpha_amylase - no_errors AMY2B HGNC ENSG00000240038 350 0 0 126 90 41.6667 PGD 0 genome.wustl.edu 37 1 10460577 10460577 + Missense_Mutation SNP T T A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 10460577 10460577 T A SNP PGD ENST00000270776 human ensembl 74_37 +1 known missense c.212 p.I71N 1.000 pfam_6PGDH_NADP-bd,tigrfam_6PGDH_decarbox pfam_6PGDH_C,pfam_6PGDH_NADP-bd,superfamily_6-PGluconate_DH_C-like,tigrfam_6PGDH_decarbox - no_errors PGD HGNC ENSG00000142657 64 0 0 34 22 39.2857 ENSG00000272078 0 genome.wustl.edu 37 1 10709518 10709518 + RNA SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 10709518 10709518 T C SNP ENSG00000272078 ENST00000606802 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors RP4-734G22.3 Clone_based_vega_gene ENSG00000272078 23 0 0 16 6 27.2727 CASZ1 0 genome.wustl.edu 37 1 10713537 10713537 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 10713537 10713537 G A SNP CASZ1 ENST00000377022 human ensembl 74_37 -1 known silent c.2577 p.P859 0.013 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CASZ1 HGNC ENSG00000130940 64 0 0 51 21 29.1667 PRMT6 0 genome.wustl.edu 37 1 107599615 107599615 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 107599615 107599615 C T SNP PRMT6 ENST00000370078 human ensembl 74_37 +1 known missense c.278 p.T93I 1.000 pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Arg_MeTrfase,pfam_Methyltransf_11,pfam_mo5U34_MeTrfas-like,pfam_Small_mtfrase_dom,pfam_tRNA_Trfase_Trm5/Tyw2 pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Arg_MeTrfase,pfam_Methyltransf_11,pfam_mo5U34_MeTrfas-like,pfam_Small_mtfrase_dom,pfam_tRNA_Trfase_Trm5/Tyw2 - no_errors PRMT6 HGNC ENSG00000198890 66 0 0 39 22 36.0656 NTNG1 0 genome.wustl.edu 37 1 107867286 107867286 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 107867286 107867286 A G SNP NTNG1 ENST00000370068 human ensembl 74_37 +1 known missense c.629 p.Y210C 1.000 pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N pfam_Laminin_N,pfam_EGF_laminin,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors NTNG1 HGNC ENSG00000162631 61 0 0 25 8 24.2424 CELSR2 0 genome.wustl.edu 37 1 109793004 109793004 + Silent SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 109793004 109793004 T C SNP CELSR2 ENST00000271332 human ensembl 74_37 +1 known silent c.303 p.I101 0.519 NULL pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR2 HGNC ENSG00000143126 132 0 0 58 48 45.283 CELSR2 0 genome.wustl.edu 37 1 109816666 109816666 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 109816666 109816666 C T SNP CELSR2 ENST00000271332 human ensembl 74_37 +1 known missense c.8767 p.H2923Y 1.000 NULL pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR2 HGNC ENSG00000143126 160 0 0 94 18 16.0714 SORT1 0 genome.wustl.edu 37 1 109859557 109859557 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 109859557 109859557 T C SNP SORT1 ENST00000256637 human ensembl 74_37 -1 known missense c.2165 p.K722R 0.926 smart_VPS10 pfam_BNR_rpt,smart_VPS10 - no_errors SORT1 HGNC ENSG00000134243 139 0 0 65 24 26.9663 AMPD2 0 genome.wustl.edu 37 1 110168804 110168804 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 110168804 110168804 C T SNP AMPD2 ENST00000256578 human ensembl 74_37 +1 known missense c.538 p.R180W 0.998 pirsf_AMP_deaminase pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase - no_errors AMPD2 HGNC ENSG00000116337 36 0 0 32 15 31.9149 AMPD2 0 genome.wustl.edu 37 1 110171361 110171361 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 110171361 110171361 C T SNP AMPD2 ENST00000256578 human ensembl 74_37 +1 known missense c.1666 p.R556C 0.436 pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase - no_errors AMPD2 HGNC ENSG00000116337 19 0 0 14 5 26.3158 MIR429 0 genome.wustl.edu 37 1 1104438 1104438 + RNA SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 1104438 1104438 T C SNP MIR429 ENST00000362106 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors MIR429 HGNC ENSG00000198976 48 0 0 39 6 13.3333 KCNC4 0 genome.wustl.edu 37 1 110754584 110754584 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 110754584 110754584 G A SNP KCNC4 ENST00000369787 human ensembl 74_37 +1 known missense c.463 p.E155K 1.000 NULL pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_K_chnl_volt-dep_Kv3_ID,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv3.4,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9 - no_errors KCNC4 HGNC ENSG00000116396 55 0 0 26 23 46.9388 KCNA2 0 genome.wustl.edu 37 1 111146992 111146992 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 111146992 111146992 C T SNP KCNA2 ENST00000316361 human ensembl 74_37 -1 known missense c.413 p.R138H 1.000 NULL 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_Kv1.2,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv1.3,prints_2pore_dom_K_chnl,prints_K_chnl_volt-dep_Kv1.1 - no_errors KCNA2 HGNC ENSG00000177301 66 0 0 20 23 53.4884 KCNA3 0 genome.wustl.edu 37 1 111216110 111216110 + Missense_Mutation SNP G G C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 111216110 111216110 G C SNP KCNA3 ENST00000369769 human ensembl 74_37 -1 known missense c.1322 p.T441S 1.000 pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_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_Kv1.3,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA3 HGNC ENSG00000177272 66 0 0 53 28 34.5679 KCNA3 0 genome.wustl.edu 37 1 111217007 111217007 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 111217007 111217007 G A SNP KCNA3 ENST00000369769 human ensembl 74_37 -1 known missense c.425 p.P142L 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv1 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_Kv1.3,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA3 HGNC ENSG00000177272 144 0 0 149 8 5.09554 CD53 0 genome.wustl.edu 37 1 111437656 111437656 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 111437656 111437656 G A SNP CD53 ENST00000271324 human ensembl 74_37 +1 known silent c.402 p.A134 0.296 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors CD53 HGNC ENSG00000143119 90 0 0 46 28 37.8378 CEPT1 0 genome.wustl.edu 37 1 111690562 111690562 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 111690562 111690562 G A SNP CEPT1 ENST00000357172 human ensembl 74_37 +1 known missense c.226 p.V76I 1.000 pirsf_CHOPT pfam_CDP-OH_P_trans,pirsf_CHOPT - no_errors CEPT1 HGNC ENSG00000134255 145 1 0.684932 70 61 46.5649 MTOR-AS1 0 genome.wustl.edu 37 1 11204901 11204901 + RNA SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 11204901 11204901 G A SNP MTOR-AS1 ENST00000420480 human ensembl 74_37 +1 known rna NULL NULL 0.210 - - - no_errors MTOR-AS1 HGNC ENSG00000225602 36 0 0 17 15 46.875 KCND3 0 genome.wustl.edu 37 1 112525093 112525093 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 112525093 112525093 G A SNP KCND3 ENST00000315987 human ensembl 74_37 -1 known missense c.256 p.R86W 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3 pfam_K_chnl_volt-dep_Kv4_C,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Shal-type,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.3,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3 - no_errors KCND3 HGNC ENSG00000171385 112 0 0 70 34 32.6923 MTOR 0 genome.wustl.edu 37 1 11291365 11291365 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 11291365 11291365 G A SNP MTOR ENST00000361445 human ensembl 74_37 -1 known missense c.2641 p.R881C 1.000 pfam_DUF3385_TOR,superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_Rapamycin-bd_dom,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_Rapamycin-bd_dom,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors MTOR HGNC ENSG00000198793 354 0 0 196 99 33.5593 WNT2B 0 genome.wustl.edu 37 1 113051996 113051996 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 113051996 113051996 C T SNP WNT2B ENST00000369684 human ensembl 74_37 +1 known missense c.112 p.R38C 0.991 NULL pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt2 - no_errors WNT2B HGNC ENSG00000134245 44 0 0 36 4 10 WNT2B 0 genome.wustl.edu 37 1 113059031 113059031 + Missense_Mutation SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 113059031 113059031 G T SNP WNT2B ENST00000369684 human ensembl 74_37 +1 known missense c.673 p.G225C 1.000 pfam_Wnt,smart_Wnt pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt2 - no_errors WNT2B HGNC ENSG00000134245 77 0 0 29 18 38.2979 AP4B1 0 genome.wustl.edu 37 1 114442813 114442813 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 114442813 114442813 C T SNP AP4B1 ENST00000256658 human ensembl 74_37 -1 known missense c.827 p.R276Q 0.916 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP_complex_bsu_1_2_4 pfam_Clathrin/coatomer_adapt-like_N,pfam_B-adaptin_app_sub_C,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,pirsf_AP_complex_bsu_1_2_4 - no_errors AP4B1 HGNC ENSG00000134262 97 0 0 59 4 6.34921 NGF 0 genome.wustl.edu 37 1 115829340 115829340 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 115829340 115829340 A G SNP NGF ENST00000369512 human ensembl 74_37 -1 known missense c.77 p.V26A 0.939 pirsf_Nerve_growth_factor-like,prints_Nerve_growth_factor_bsu_mml pirsf_Nerve_growth_factor-like,pfam_Nerve_growth_factor-rel,smart_Nerve_growth_factor-rel,prints_Nerve_growth_factor-rel,prints_Nerve_growth_factor_bsu_mml,prints_Nerve_growth_factor_bsu,pfscan_Nerve_growth_factor-rel - no_errors NGF HGNC ENSG00000134259 91 0 0 36 31 46.2687 NHLH2 0 genome.wustl.edu 37 1 116380755 116380755 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 116380755 116380755 G A SNP NHLH2 ENST00000320238 human ensembl 74_37 -1 known missense c.239 p.S80L 1.000 pfam_bHLH_dom,superfamily_bHLH_dom,pfscan_bHLH_dom pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors NHLH2 HGNC ENSG00000177551 17 0 0 24 10 29.4118 SDF4 0 genome.wustl.edu 37 1 1164062 1164062 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 1164062 1164062 G A SNP SDF4 ENST00000360001 human ensembl 74_37 -1 known missense c.112 p.P38S 1.000 NULL smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors SDF4 HGNC ENSG00000078808 67 0 0 75 6 7.40741 WDR3 0 genome.wustl.edu 37 1 118481113 118481113 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 118481113 118481113 A G SNP WDR3 ENST00000349139 human ensembl 74_37 +1 known missense c.511 p.T171A 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_SSU_processome_Utp12,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR3 HGNC ENSG00000065183 61 0 0 39 12 23.5294 MTHFR 0 genome.wustl.edu 37 1 11860308 11860308 + Nonsense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 11860308 11860308 G A SNP MTHFR ENST00000376583 human ensembl 74_37 -1 known nonsense c.670 p.R224* 1.000 pfam_Mehydrof_redctse,tigrfam_Fadh2_euk pfam_Mehydrof_redctse,tigrfam_Fadh2_euk - no_errors MTHFR HGNC ENSG00000177000 191 0 0 113 69 37.9121 MTHFR 0 genome.wustl.edu 37 1 11861228 11861228 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 11861228 11861228 C T SNP MTHFR ENST00000376583 human ensembl 74_37 -1 known silent c.588 p.A196 0.000 pfam_Mehydrof_redctse,tigrfam_Fadh2_euk pfam_Mehydrof_redctse,tigrfam_Fadh2_euk - no_errors MTHFR HGNC ENSG00000177000 190 0 0 92 75 44.9102 SPAG17 0 genome.wustl.edu 37 1 118693898 118693898 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 118693898 118693898 T C SNP SPAG17 ENST00000336338 human ensembl 74_37 -1 known missense c.182 p.Q61R 0.998 NULL NULL - no_errors SPAG17 HGNC ENSG00000155761 55 0 0 32 21 39.6226 WARS2 0 genome.wustl.edu 37 1 119575743 119575743 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 119575743 119575743 G A SNP WARS2 ENST00000235521 human ensembl 74_37 -1 known missense c.874 p.R292C 0.380 pfam_aa-tRNA-synth_Ic,tigrfam_Trp-tRNA-ligase pfam_aa-tRNA-synth_Ic,prints_Trp-tRNA-ligase,tigrfam_Trp-tRNA-ligase - no_errors WARS2 HGNC ENSG00000116874 149 0 0 42 25 37.3134 HSD3B1 0 genome.wustl.edu 37 1 120057096 120057096 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 120057096 120057096 G A SNP HSD3B1 ENST00000235547 human ensembl 74_37 +1 known missense c.956 p.R319H 1.000 NULL pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_Male_sterile_NAD-bd,pfam_Polysac_CapD-like,pfam_DH_sc/Rdtase_SDR,pfam_dTDP_dehydrorham_reduct,pfam_PKS_KR,pfam_NmrA - no_errors HSD3B1 HGNC ENSG00000203857 181 0 0 64 42 39.6226 SCNN1D 0 genome.wustl.edu 37 1 1222558 1222558 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 1222558 1222558 T C SNP SCNN1D ENST00000379116 human ensembl 74_37 +1 known missense c.1189 p.Y397H 1.000 pfam_Na+channel_ASC,tigrfam_EnaC pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC - no_errors SCNN1D HGNC ENSG00000162572 40 0 0 36 10 21.7391 VPS13D 0 genome.wustl.edu 37 1 12322018 12322018 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 12322018 12322018 G A SNP VPS13D ENST00000358136 human ensembl 74_37 +1 known missense c.1475 p.R492Q 1.000 NULL pfam_VPSAP_dom,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors VPS13D HGNC ENSG00000048707 125 0 0 52 25 32.4675 PRAMEF10 0 genome.wustl.edu 37 1 12954967 12954967 + Silent SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 12954967 12954967 G T SNP PRAMEF10 ENST00000235347 human ensembl 74_37 -1 known silent c.316 p.R106 0.000 NULL NULL - no_errors PRAMEF10 HGNC ENSG00000187545 8 0 0 0 3 100 VWA1 0 genome.wustl.edu 37 1 1374664 1374664 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 1374664 1374664 T C SNP VWA1 ENST00000476993 human ensembl 74_37 +1 known missense c.835 p.Y279H 0.635 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_VWF_A,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors VWA1 HGNC ENSG00000179403 12 0 0 9 10 52.6316 PRDM2 0 genome.wustl.edu 37 1 14105804 14105804 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 14105804 14105804 T C SNP PRDM2 ENST00000235372 human ensembl 74_37 +1 known missense c.1514 p.V505A 0.999 smart_Znf_C2H2-like,pirsf_RIZ_retinblastoma-bd_prot,pfscan_Znf_C2H2 pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pirsf_RIZ_retinblastoma-bd_prot,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM2 HGNC ENSG00000116731 43 0 0 26 15 36.5854 PRDM2 0 genome.wustl.edu 37 1 14108082 14108082 + Silent SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 14108082 14108082 T C SNP PRDM2 ENST00000235372 human ensembl 74_37 +1 known silent c.3792 p.D1264 1.000 pirsf_RIZ_retinblastoma-bd_prot pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pirsf_RIZ_retinblastoma-bd_prot,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM2 HGNC ENSG00000116731 176 0 0 136 31 18.5629 PDE4DIP 0 genome.wustl.edu 37 1 145075880 145075880 + RNA SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 145075880 145075880 C T SNP PDE4DIP ENST00000528552 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors PDE4DIP HGNC ENSG00000178104 54 0 0 83 14 14.433 HFE2 0 genome.wustl.edu 37 1 145415499 145415499 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 145415499 145415499 G A SNP HFE2 ENST00000336751 human ensembl 74_37 +1 known silent c.318 p.A106 0.302 pfam_RGM_N pfam_RGM_N,pfam_RGM_C - no_errors HFE2 HGNC ENSG00000168509 65 0 0 117 14 10.687 PRKAB2 0 genome.wustl.edu 37 1 146638125 146638125 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 146638125 146638125 C T SNP PRKAB2 ENST00000254101 human ensembl 74_37 -1 known missense c.490 p.D164N 1.000 NULL pfam_AMP_prot_kin_bsu_interact-dom,superfamily_Ig_E-set - no_errors PRKAB2 HGNC ENSG00000131791 64 0 0 25 35 58.3333 LOC100293748 0 genome.wustl.edu 37 1 149262152 149262152 + RNA SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 149262152 149262152 T C SNP LOC100293748 ENST00000325963 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-403I13.4 Clone_based_vega_gene ENSG00000223779 205 0 0 122 47 27.8107 HIST2H2BF 0 genome.wustl.edu 37 1 149783533 149783533 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 149783533 149783533 T C SNP HIST2H2BF ENST00000427880 human ensembl 74_37 -1 known missense c.346 p.T116A 1.000 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 HIST2H2BF HGNC ENSG00000203814 38 0 0 15 27 64.2857 HIST2H2BE 0 genome.wustl.edu 37 1 149857996 149857996 + Silent SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 149857996 149857996 G T SNP HIST2H2BE ENST00000369155 human ensembl 74_37 -1 known silent c.195 p.S65 0.959 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 HIST2H2BE HGNC ENSG00000184678 296 0 0 168 171 50.4425 MTMR11 0 genome.wustl.edu 37 1 149905314 149905314 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 149905314 149905314 C T SNP MTMR11 ENST00000439741 human ensembl 74_37 -1 known missense c.970 p.A324T 1.000 NULL pfam_Myotubularin_assoc,pfam_Myotubularin-like_Pase_dom - no_errors MTMR11 HGNC ENSG00000014914 143 0 0 131 56 29.9465 C1orf54 0 genome.wustl.edu 37 1 150252086 150252086 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 150252086 150252086 G A SNP C1orf54 ENST00000369099 human ensembl 74_37 +1 known silent c.333 p.L111 0.966 NULL NULL - no_errors C1orf54 HGNC ENSG00000118292 477 0 0 260 335 56.3025 ENSA 0 genome.wustl.edu 37 1 150599823 150599823 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 150599823 150599823 G A SNP ENSA ENST00000362052 human ensembl 74_37 -1 known silent c.303 p.G101 0.000 NULL NULL - no_errors ENSA HGNC ENSG00000143420 328 0 0 266 99 27.1233 FAM63A 0 genome.wustl.edu 37 1 150973067 150973067 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 150973067 150973067 G A SNP FAM63A ENST00000361738 human ensembl 74_37 -1 known silent c.745 p.L249 1.000 pfam_DUF544 pfam_DUF544 - no_errors FAM63A HGNC ENSG00000143409 110 0 0 59 78 56.9343 POGZ 0 genome.wustl.edu 37 1 151377849 151377849 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 151377849 151377849 C T SNP POGZ ENST00000271715 human ensembl 74_37 -1 known missense c.3662 p.R1221H 0.967 pfam_DDE_SF_endonuclease_CENPB-like pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_Znf_C2H2 - no_errors POGZ HGNC ENSG00000143442 146 0 0 117 7 5.64516 RORC 0 genome.wustl.edu 37 1 151779906 151779906 + RNA SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 151779906 151779906 G A SNP RORC ENST00000480719 human ensembl 74_37 -1 known rna NULL NULL 0.122 - - - no_errors RORC HGNC ENSG00000143365 43 0 0 29 20 40.8163 RORC 0 genome.wustl.edu 37 1 151785618 151785618 + RNA SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 151785618 151785618 G T SNP RORC ENST00000480719 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors RORC HGNC ENSG00000143365 115 0 0 59 78 56.9343 RPTN 0 genome.wustl.edu 37 1 152127424 152127424 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 152127424 152127424 G A SNP RPTN ENST00000316073 human ensembl 74_37 -1 known silent c.2151 p.H717 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors RPTN HGNC ENSG00000215853 289 0 0 248 38 13.2867 FLG 0 genome.wustl.edu 37 1 152276823 152276823 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 152276823 152276823 C T SNP FLG ENST00000368799 human ensembl 74_37 -1 known silent c.10539 p.A3513 0.000 pfam_Filaggrin pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 410 0 0 355 145 29 FLG 0 genome.wustl.edu 37 1 152278662 152278662 + Silent SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 152278662 152278662 A G SNP FLG ENST00000368799 human ensembl 74_37 -1 known silent c.8700 p.H2900 0.000 pfam_Filaggrin pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 446 1 0.223714 626 46 6.84524 FLG 0 genome.wustl.edu 37 1 152278749 152278749 + Silent SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 152278749 152278749 T C SNP FLG ENST00000368799 human ensembl 74_37 -1 known silent c.8613 p.S2871 0.000 pfam_Filaggrin pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 481 0 0 733 85 10.3912 FLG 0 genome.wustl.edu 37 1 152278757 152278757 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 152278757 152278757 T C SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.8605 p.R2869G 0.000 pfam_Filaggrin pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 535 1 0.186567 804 96 10.6667 FLG 0 genome.wustl.edu 37 1 152278762 152278762 + Missense_Mutation SNP A A C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 152278762 152278762 A C SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.8600 p.I2867S 0.001 pfam_Filaggrin pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 581 0 0 858 108 11.1801 FLG 0 genome.wustl.edu 37 1 152279050 152279050 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 152279050 152279050 T C SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.8312 p.Q2771R 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 721 0 0 972 154 13.6767 FLG 0 genome.wustl.edu 37 1 152279219 152279219 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 152279219 152279219 A G SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.8143 p.S2715P 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 71 0 0 70 15 17.6471 FLG 0 genome.wustl.edu 37 1 152280471 152280471 + Missense_Mutation SNP C C G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 152280471 152280471 C G SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.6891 p.E2297D 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 511 1 0.195312 428 87 16.8932 FLG 0 genome.wustl.edu 37 1 152280492 152280492 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 152280492 152280492 G A SNP FLG ENST00000368799 human ensembl 74_37 -1 known silent c.6870 p.A2290 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 539 0 0 426 83 16.3065 FLG 0 genome.wustl.edu 37 1 152280504 152280504 + Missense_Mutation SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 152280504 152280504 G T SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.6858 p.H2286Q 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 521 0 0 391 64 14.0659 FLG 0 genome.wustl.edu 37 1 152280573 152280573 + Silent SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 152280573 152280573 C A SNP FLG ENST00000368799 human ensembl 74_37 -1 known silent c.6789 p.A2263 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 420 2 0.473934 304 41 11.8841 FLG 0 genome.wustl.edu 37 1 152280587 152280587 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 152280587 152280587 G A SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.6775 p.R2259W 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 383 0 0 316 50 13.6612 FLG 0 genome.wustl.edu 37 1 152280597 152280597 + Silent SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 152280597 152280597 A G SNP FLG ENST00000368799 human ensembl 74_37 -1 known silent c.6765 p.D2255 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 400 2 0.497512 324 62 16.0622 FLG 0 genome.wustl.edu 37 1 152280614 152280614 + Missense_Mutation SNP C C G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 152280614 152280614 C G SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.6748 p.E2250Q 0.000 pfam_Filaggrin pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 398 2 0.5 327 76 18.8586 FLG 0 genome.wustl.edu 37 1 152280635 152280635 + Missense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 152280635 152280635 C A SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.6727 p.V2243F 0.000 pfam_Filaggrin pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 377 0 0 342 93 21.3793 FLG 0 genome.wustl.edu 37 1 152285753 152285753 + Missense_Mutation SNP T T G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 152285753 152285753 T G SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.1609 p.N537H 0.001 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 615 0 0 334 512 60.5201 FLG 0 genome.wustl.edu 37 1 152286029 152286029 + Missense_Mutation SNP G G C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 152286029 152286029 G C SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.1333 p.L445V 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 362 0 0 313 143 31.3596 CRNN 0 genome.wustl.edu 37 1 152382676 152382676 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 152382676 152382676 G A SNP CRNN ENST00000271835 human ensembl 74_37 -1 known silent c.882 p.H294 0.001 NULL pfam_S100_Ca-bd_sub,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors CRNN HGNC ENSG00000143536 415 1 0.240385 402 75 15.7233 INTS3 0 genome.wustl.edu 37 1 153723713 153723713 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 153723713 153723713 C T SNP INTS3 ENST00000318967 human ensembl 74_37 +1 known missense c.727 p.R243W 1.000 NULL pfam_Int_cplx_su3 - no_errors INTS3 HGNC ENSG00000143624 63 0 0 35 14 28.5714 INTS3 0 genome.wustl.edu 37 1 153745039 153745039 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 153745039 153745039 A G SNP INTS3 ENST00000456435 human ensembl 74_37 +1 known missense c.2326 p.T776A 0.003 NULL pfam_Int_cplx_su3 - no_errors INTS3 HGNC ENSG00000143624 34 0 0 28 14 33.3333 DENND4B 0 genome.wustl.edu 37 1 153913024 153913024 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 153913024 153913024 G A SNP DENND4B ENST00000361217 human ensembl 74_37 -1 known missense c.1385 p.A462V 1.000 pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND4B HGNC ENSG00000198837 30 0 0 29 10 25.641 AQP10 0 genome.wustl.edu 37 1 154296793 154296793 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 154296793 154296793 C T SNP AQP10 ENST00000324978 human ensembl 74_37 +1 known missense c.743 p.A248V 1.000 pfam_MIP,superfamily_Aquaporin-like,prints_MIP,tigrfam_MIP pfam_MIP,superfamily_Aquaporin-like,prints_MIP,prints_Aquaporin_10,prints_Aquaporin_3,tigrfam_MIP - no_errors AQP10 HGNC ENSG00000143595 79 0 0 61 27 30.6818 SHC1 0 genome.wustl.edu 37 1 154942648 154942648 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 154942648 154942648 C T SNP SHC1 ENST00000368445 human ensembl 74_37 -1 known missense c.355 p.G119R 1.000 NULL pfam_PTB/PI_dom,pfam_SH2,smart_PTB/PI_dom,smart_SH2,pfscan_PTB/PI_dom,pfscan_SH2,prints_PID_Shc-like,prints_SH2 - no_errors SHC1 HGNC ENSG00000160691 88 0 0 65 25 27.7778 FLAD1 0 genome.wustl.edu 37 1 154960618 154960618 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 154960618 154960618 G A SNP FLAD1 ENST00000405236 human ensembl 74_37 +1 known missense c.113 p.R38Q 1.000 pfam_Mopterin-bd_dom,superfamily_Mopterin-bd_dom,smart_Mopterin-bd_dom pfam_Mopterin-bd_dom,superfamily_Mopterin-bd_dom,smart_Mopterin-bd_dom - no_errors FLAD1 HGNC ENSG00000160688 206 0 0 157 77 32.906 DCST2 0 genome.wustl.edu 37 1 155006032 155006032 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 155006032 155006032 C T SNP DCST2 ENST00000368424 human ensembl 74_37 -1 known missense c.146 p.G49D 0.978 NULL pfam_DC_STAMP-like - no_errors DCST2 HGNC ENSG00000163354 103 0 0 128 13 9.21986 TRIM46 0 genome.wustl.edu 37 1 155150709 155150709 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 155150709 155150709 G A SNP TRIM46 ENST00000334634 human ensembl 74_37 +1 known missense c.1141 p.A381T 1.000 NULL pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box - no_errors TRIM46 HGNC ENSG00000163462 57 0 0 35 39 52.7027 GBA 0 genome.wustl.edu 37 1 155209421 155209421 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 155209421 155209421 T C SNP GBA ENST00000327247 human ensembl 74_37 -1 known missense c.440 p.Y147C 1.000 pfam_Glyco_hydro_30,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_30 pfam_Glyco_hydro_30,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_30 - no_errors GBA HGNC ENSG00000177628 50 0 0 40 16 28.5714 FAM189B 0 genome.wustl.edu 37 1 155221590 155221590 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 155221590 155221590 G A SNP FAM189B ENST00000361361 human ensembl 74_37 -1 known missense c.728 p.P243L 0.996 NULL pfam_CD20-like - no_errors FAM189B HGNC ENSG00000160767 23 0 0 18 9 33.3333 CLK2 0 genome.wustl.edu 37 1 155233764 155233764 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 155233764 155233764 G A SNP CLK2 ENST00000368361 human ensembl 74_37 -1 known missense c.1294 p.R432C 0.877 pfam_Prot_kinase_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 CLK2 HGNC ENSG00000176444 200 0 0 143 52 26.6667 CLK2 0 genome.wustl.edu 37 1 155234456 155234456 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 155234456 155234456 C T SNP CLK2 ENST00000368361 human ensembl 74_37 -1 known missense c.1043 p.R348Q 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 CLK2 HGNC ENSG00000176444 100 0 0 107 9 7.75862 RUSC1 0 genome.wustl.edu 37 1 155294946 155294946 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 155294946 155294946 G A SNP RUSC1 ENST00000368352 human ensembl 74_37 +1 known missense c.1510 p.A504T 1.000 NULL pfam_Run,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Run,smart_SH3_domain,pfscan_Run,pfscan_SH3_domain - no_errors RUSC1 HGNC ENSG00000160753 172 0 0 151 58 27.7512 ASH1L 0 genome.wustl.edu 37 1 155448745 155448745 + Nonsense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 155448745 155448745 G A SNP ASH1L ENST00000368346 human ensembl 74_37 -1 known nonsense c.3916 p.R1306* 1.000 NULL pfam_SET_dom,pfam_BAH_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_AT_hook_DNA-bd_motif,smart_AWS,smart_SET_dom,smart_Bromodomain,smart_Znf_PHD,smart_BAH_dom,pfscan_AWS,pfscan_BAH_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Bromodomain - no_errors ASH1L HGNC ENSG00000116539 123 0 0 52 63 54.7826 ASH1L 0 genome.wustl.edu 37 1 155491157 155491157 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 155491157 155491157 G A SNP ASH1L ENST00000368346 human ensembl 74_37 -1 known missense c.154 p.R52W 0.002 NULL pfam_SET_dom,pfam_BAH_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_AT_hook_DNA-bd_motif,smart_AWS,smart_SET_dom,smart_Bromodomain,smart_Znf_PHD,smart_BAH_dom,pfscan_AWS,pfscan_BAH_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Bromodomain - no_errors ASH1L HGNC ENSG00000116539 417 0 0 363 25 6.4433 RXFP4 0 genome.wustl.edu 37 1 155911941 155911941 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 155911941 155911941 G A SNP RXFP4 ENST00000368318 human ensembl 74_37 +1 known silent c.441 p.A147 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_ATII_rcpt - no_errors RXFP4 HGNC ENSG00000173080 94 0 0 37 53 58.8889 UBQLN4 0 genome.wustl.edu 37 1 156018332 156018332 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 156018332 156018332 G A SNP UBQLN4 ENST00000368309 human ensembl 74_37 -1 known missense c.860 p.T287M 0.999 NULL pfam_Ubiquitin_dom,pfam_UBA/Ts_N,pfam_Rad60/SUMO_like,superfamily_UBA-like,superfamily_ARM-type_fold,superfamily_XPC-bd,smart_Ubiquitin_dom,smart_STI1_HS-bd,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup - no_errors UBQLN4 HGNC ENSG00000160803 44 0 0 36 45 55.5556 RAB25 0 genome.wustl.edu 37 1 156035832 156035832 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 156035832 156035832 C T SNP RAB25 ENST00000361084 human ensembl 74_37 +1 known silent c.174 p.T58 0.050 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_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_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB25 HGNC ENSG00000132698 75 0 0 70 31 30.6931 SEMA4A 0 genome.wustl.edu 37 1 156124510 156124510 + Splice_Site SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 156124510 156124510 T C SNP SEMA4A ENST00000355014 human ensembl 74_37 +1 known splice_site c.139+2 e1+2 0.974 - - - no_errors SEMA4A HGNC ENSG00000196189 8 0 0 7 9 56.25 SEMA4A 0 genome.wustl.edu 37 1 156130338 156130338 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 156130338 156130338 C T SNP SEMA4A ENST00000355014 human ensembl 74_37 +1 known missense c.673 p.R225C 1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom - no_errors SEMA4A HGNC ENSG00000196189 46 0 0 30 27 47.3684 PAQR6 0 genome.wustl.edu 37 1 156214515 156214515 + Missense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 156214515 156214515 C A SNP PAQR6 ENST00000335852 human ensembl 74_37 -1 known missense c.479 p.G160V 0.028 NULL pfam_HlyIII-related - no_errors PAQR6 HGNC ENSG00000160781 60 0 0 60 5 7.69231 PAQR6 0 genome.wustl.edu 37 1 156216522 156216522 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 156216522 156216522 T C SNP PAQR6 ENST00000292291 human ensembl 74_37 -1 known missense c.1 p.M1V 1.000 NULL pfam_HlyIII-related - no_errors PAQR6 HGNC ENSG00000160781 38 0 0 83 15 15.3061 C1orf61 0 genome.wustl.edu 37 1 156386536 156386536 + RNA SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 156386536 156386536 C A SNP C1orf61 ENST00000462458 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors C1orf61 HGNC ENSG00000125462 166 0 0 74 91 55.1515 PRCC 0 genome.wustl.edu 37 1 156737935 156737935 + Silent SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 156737935 156737935 T C SNP PRCC ENST00000271526 human ensembl 74_37 +1 known silent c.372 p.P124 0.004 NULL pfam_PRCC - no_errors PRCC HGNC ENSG00000143294 9 0 0 7 3 30 PRCC 0 genome.wustl.edu 37 1 156737938 156737938 + Silent SNP A A C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 156737938 156737938 A C SNP PRCC ENST00000271526 human ensembl 74_37 +1 known silent c.375 p.P125 0.001 NULL pfam_PRCC - no_errors PRCC HGNC ENSG00000143294 8 0 0 7 3 30 INSRR 0 genome.wustl.edu 37 1 156811288 156811288 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 156811288 156811288 G A SNP INSRR ENST00000368195 human ensembl 74_37 -1 known missense c.3560 p.T1187I 1.000 pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom - no_errors INSRR HGNC ENSG00000027644 91 0 0 100 24 19.3548 ETV3L 0 genome.wustl.edu 37 1 157068643 157068643 + Missense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 157068643 157068643 C A SNP ETV3L ENST00000454449 human ensembl 74_37 -1 known missense c.341 p.R114M 1.000 pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ETV3L HGNC ENSG00000253831 156 0 0 136 54 28.4211 FCRL2 0 genome.wustl.edu 37 1 157738437 157738437 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 157738437 157738437 G A SNP FCRL2 ENST00000361516 human ensembl 74_37 -1 known missense c.650 p.T217I 0.001 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCRL2 HGNC ENSG00000132704 191 0 0 146 53 26.6332 OR10K1 0 genome.wustl.edu 37 1 158435493 158435493 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 158435493 158435493 A G SNP OR10K1 ENST00000289451 human ensembl 74_37 +1 known missense c.142 p.T48A 0.997 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10K1 HGNC ENSG00000173285 180 0 0 131 37 22.0238 OR10Z1 0 genome.wustl.edu 37 1 158576274 158576274 + Missense_Mutation SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 158576274 158576274 G T SNP OR10Z1 ENST00000361284 human ensembl 74_37 +1 known missense c.46 p.G16C 0.988 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10Z1 HGNC ENSG00000198967 119 0 0 81 30 27.027 DNAJC16 0 genome.wustl.edu 37 1 15863138 15863138 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 15863138 15863138 C T SNP DNAJC16 ENST00000375847 human ensembl 74_37 +1 known missense c.403 p.R135W 1.000 NULL pfam_DnaJ_domain,pfam_Thioredoxin_domain,superfamily_DnaJ_domain,superfamily_Thioredoxin-like_fold,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJC16 HGNC ENSG00000116138 84 0 0 22 17 43.5897 OR6K6 0 genome.wustl.edu 37 1 158724749 158724749 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 158724749 158724749 G A SNP OR6K6 ENST00000368144 human ensembl 74_37 +1 known silent c.144 p.A48 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6K6 HGNC ENSG00000180433 156 1 0.636943 112 41 26.7974 MNDA 0 genome.wustl.edu 37 1 158813179 158813179 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 158813179 158813179 G A SNP MNDA ENST00000368141 human ensembl 74_37 +1 known missense c.376 p.A126T 0.000 NULL pfam_HIN200/IF120x,pfam_DAPIN,pfscan_DAPIN,pfscan_HIN200/IF120x - no_errors MNDA HGNC ENSG00000163563 39 0 0 8 13 61.9048 AGMAT 0 genome.wustl.edu 37 1 15909692 15909692 + Silent SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 15909692 15909692 G T SNP AGMAT ENST00000375826 human ensembl 74_37 -1 known silent c.471 p.T157 0.996 pfam_Ureohydrolase,tigrfam_Agmatinase-rel pfam_Ureohydrolase,prints_Ureohydrolase,tigrfam_Agmatinase-rel - no_errors AGMAT HGNC ENSG00000116771 36 0 0 18 9 33.3333 CRP 0 genome.wustl.edu 37 1 159683773 159683773 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 159683773 159683773 C T SNP CRP ENST00000255030 human ensembl 74_37 -1 known missense c.217 p.A73T 0.343 pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin - no_errors CRP HGNC ENSG00000132693 81 0 0 86 16 15.6863 ATP1A4 0 genome.wustl.edu 37 1 160151795 160151795 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 160151795 160151795 C T SNP ATP1A4 ENST00000368081 human ensembl 74_37 +1 known silent c.2943 p.D981 0.111 pfam_ATPase_P-typ_cation-transptr_C,tigrfam_ATPase_P-typ_Na/K_IIC pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP1A4 HGNC ENSG00000132681 187 0 0 122 42 25.6098 PLEKHM2 0 genome.wustl.edu 37 1 16054066 16054066 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 16054066 16054066 C T SNP PLEKHM2 ENST00000375799 human ensembl 74_37 +1 known missense c.1499 p.A500V 1.000 NULL pfam_Run,pfam_Pleckstrin_homology,smart_Run,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Run - no_errors PLEKHM2 HGNC ENSG00000116786 9 0 0 6 5 45.4545 USF1 0 genome.wustl.edu 37 1 161011147 161011147 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 161011147 161011147 C T SNP USF1 ENST00000368020 human ensembl 74_37 -1 known missense c.527 p.R176H 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors USF1 HGNC ENSG00000158773 44 0 0 43 21 32.8125 ARHGAP30 0 genome.wustl.edu 37 1 161017527 161017527 + Missense_Mutation SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 161017527 161017527 G T SNP ARHGAP30 ENST00000368013 human ensembl 74_37 -1 known missense c.3284 p.P1095H 0.345 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP30 HGNC ENSG00000186517 108 0 0 75 24 24.2424 PVRL4 0 genome.wustl.edu 37 1 161043525 161043525 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 161043525 161043525 C T SNP PVRL4 ENST00000368012 human ensembl 74_37 -1 known silent c.1218 p.T406 0.720 NULL pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors PVRL4 HGNC ENSG00000143217 117 0 0 143 42 22.7027 DUSP12 0 genome.wustl.edu 37 1 161722969 161722969 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 161722969 161722969 G A SNP DUSP12 ENST00000367943 human ensembl 74_37 +1 known missense c.779 p.G260E 0.327 pirsf_DUSP12 pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pirsf_DUSP12,pfscan_Znf_C2H2,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors DUSP12 HGNC ENSG00000081721 131 0 0 100 22 18.0328 SPEN 0 genome.wustl.edu 37 1 16248846 16248846 + Splice_Site SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 16248846 16248846 T C SNP SPEN ENST00000375759 human ensembl 74_37 +1 known splice_site c.1850+2 e10+2 0.993 - - - no_errors SPEN HGNC ENSG00000065526 53 0 0 19 16 45.7143 SPEN 0 genome.wustl.edu 37 1 16259759 16259759 + Nonsense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 16259759 16259759 C T SNP SPEN ENST00000375759 human ensembl 74_37 +1 known nonsense c.7024 p.R2342* 0.979 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC_like_C_dom,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC ENSG00000065526 131 1 0.757576 88 21 19.2661 SPEN 0 genome.wustl.edu 37 1 16262482 16262482 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 16262482 16262482 C T SNP SPEN ENST00000375759 human ensembl 74_37 +1 known silent c.9747 p.P3249 0.005 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC_like_C_dom,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC ENSG00000065526 28 0 0 25 9 26.4706 SPEN 0 genome.wustl.edu 37 1 16264140 16264140 + Missense_Mutation SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 16264140 16264140 G T SNP SPEN ENST00000375759 human ensembl 74_37 +1 known missense c.10509 p.K3503N 1.000 superfamily_SPOC_like_C_dom,pfscan_SPOC_met pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC_like_C_dom,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC ENSG00000065526 163 0 0 85 41 32.5397 HSD17B7 0 genome.wustl.edu 37 1 162782140 162782140 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 162782140 162782140 T C SNP HSD17B7 ENST00000254521 human ensembl 74_37 +1 known missense c.956 p.L319P 1.000 NULL pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH - no_errors HSD17B7 HGNC ENSG00000132196 37 0 0 5 14 73.6842 HSPB7 0 genome.wustl.edu 37 1 16343700 16343700 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 16343700 16343700 G A SNP HSPB7 ENST00000487046 human ensembl 74_37 -1 known missense c.217 p.R73C 0.998 superfamily_HSP20-like_chaperone pfam_a-crystallin/Hsp20_dom,superfamily_HSP20-like_chaperone,pfscan_a-crystallin/Hsp20_dom,prints_Alpha-crystallin/HSP - no_errors HSPB7 HGNC ENSG00000173641 167 0 0 87 58 40 HSPB7 0 genome.wustl.edu 37 1 16344393 16344393 + Silent SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 16344393 16344393 G T SNP HSPB7 ENST00000487046 human ensembl 74_37 -1 known silent c.66 p.S22 0.343 NULL pfam_a-crystallin/Hsp20_dom,superfamily_HSP20-like_chaperone,pfscan_a-crystallin/Hsp20_dom,prints_Alpha-crystallin/HSP - no_errors HSPB7 HGNC ENSG00000173641 54 0 0 28 13 31.7073 EPHA2 0 genome.wustl.edu 37 1 16459687 16459687 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 16459687 16459687 C T SNP EPHA2 ENST00000358432 human ensembl 74_37 -1 known missense c.2041 p.V681I 1.000 pirsf_Tyr_kinase_ephrin_rcpt,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 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA2 HGNC ENSG00000142627 58 0 0 35 26 42.623 LRRC52 0 genome.wustl.edu 37 1 165513717 165513717 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 165513717 165513717 G A SNP LRRC52 ENST00000294818 human ensembl 74_37 +1 known missense c.184 p.E62K 0.000 NULL pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC52 HGNC ENSG00000162763 222 0 0 72 116 61.7021 RSG1 0 genome.wustl.edu 37 1 16558726 16558726 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 16558726 16558726 C T SNP RSG1 ENST00000375599 human ensembl 74_37 -1 known silent c.594 p.E198 0.881 pfam_Small_GTPase,superfamily_P-loop_NTPase pfam_MIRO-like,pfam_Small_GTPase,superfamily_P-loop_NTPase,prints_Small_GTPase - no_errors RSG1 HGNC ENSG00000132881 32 0 0 20 14 41.1765 FAM78B 0 genome.wustl.edu 37 1 166039535 166039535 + Missense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 166039535 166039535 C A SNP FAM78B ENST00000338353 human ensembl 74_37 -1 known missense c.729 p.Q243H 1.000 NULL NULL - no_errors FAM78B HGNC ENSG00000188859 147 0 0 165 9 5.17241 GPA33 0 genome.wustl.edu 37 1 167024302 167024302 + Silent SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 167024302 167024302 A G SNP GPA33 ENST00000367868 human ensembl 74_37 -1 known silent c.738 p.V246 0.000 NULL pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors GPA33 HGNC ENSG00000143167 95 0 0 41 57 58.1633 SZRD1 0 genome.wustl.edu 37 1 16719757 16719757 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 16719757 16719757 G A SNP SZRD1 ENST00000375590 human ensembl 74_37 +1 known missense c.76 p.V26M 1.000 NULL NULL - no_errors SZRD1 HGNC ENSG00000055070 176 0 0 174 15 7.93651 RCSD1 0 genome.wustl.edu 37 1 167666580 167666580 + Missense_Mutation SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 167666580 167666580 G T SNP RCSD1 ENST00000367854 human ensembl 74_37 +1 known missense c.719 p.R240M 0.652 pfam_RCSD pfam_RCSD - no_errors RCSD1 HGNC ENSG00000198771 36 0 0 58 9 13.4328 RCSD1 0 genome.wustl.edu 37 1 167666619 167666619 + Missense_Mutation SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 167666619 167666619 G T SNP RCSD1 ENST00000367854 human ensembl 74_37 +1 known missense c.758 p.R253M 0.001 pfam_RCSD pfam_RCSD - no_errors RCSD1 HGNC ENSG00000198771 30 0 0 26 17 39.5349 DCAF6 0 genome.wustl.edu 37 1 167971724 167971724 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 167971724 167971724 G A SNP DCAF6 ENST00000367840 human ensembl 74_37 +1 known missense c.908 p.R303Q 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_IQ_motif_EF-hand-BS,pfscan_WD40_repeat_dom - no_errors DCAF6 HGNC ENSG00000143164 73 0 0 39 48 55.1724 CROCCP3 0 genome.wustl.edu 37 1 16809859 16809859 + RNA SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 16809859 16809859 G A SNP CROCCP3 ENST00000263511 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CROCCP3 HGNC ENSG00000080947 18 0 0 23 16 41.0256 CCDC181 0 genome.wustl.edu 37 1 169391108 169391108 + Silent SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 169391108 169391108 T C SNP CCDC181 ENST00000367806 human ensembl 74_37 -1 known silent c.561 p.S187 0.993 NULL NULL - no_errors CCDC181 HGNC ENSG00000117477 113 0 0 56 25 30.8642 F5 0 genome.wustl.edu 37 1 169510286 169510286 + Missense_Mutation SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 169510286 169510286 G T SNP F5 ENST00000367797 human ensembl 74_37 -1 known missense c.4042 p.L1348I 0.000 NULL pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors F5 HGNC ENSG00000198734 344 0 0 316 73 18.7661 C1orf112 0 genome.wustl.edu 37 1 169790873 169790873 + Missense_Mutation SNP T T G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 169790873 169790873 T G SNP C1orf112 ENST00000286031 human ensembl 74_37 +1 known missense c.756 p.F252L 1.000 NULL NULL - no_errors C1orf112 HGNC ENSG00000000460 63 0 0 30 7 18.9189 GORAB 0 genome.wustl.edu 37 1 170508692 170508692 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 170508692 170508692 A G SNP GORAB ENST00000367763 human ensembl 74_37 +1 known missense c.478 p.K160E 0.999 NULL pfam_Transcript_act - no_errors GORAB HGNC ENSG00000120370 72 0 0 28 44 61.1111 FMO2 0 genome.wustl.edu 37 1 171173089 171173089 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 171173089 171173089 G A SNP FMO2 ENST00000209929 human ensembl 74_37 +1 known missense c.713 p.R238Q 0.994 pfam_Flavin_mOase-like pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_Flavin_mOase,prints_Flavin_mOase_2,prints_Flavin_mOase_1,prints_Flavin_mOase_5 - no_errors FMO2 HGNC ENSG00000094963 70 0 0 49 11 18.3333 METTL13 0 genome.wustl.edu 37 1 171752950 171752950 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 171752950 171752950 T C SNP METTL13 ENST00000361735 human ensembl 74_37 +1 known missense c.224 p.V75A 1.000 pfam_Methyltransf_11 pfam_Methyltransf_11,pfam_Spermidine/spermine_synthase - no_errors METTL13 HGNC ENSG00000010165 102 0 0 76 28 26.9231 GNB1 0 genome.wustl.edu 37 1 1721996 1721996 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 1721996 1721996 C T SNP GNB1 ENST00000378609 human ensembl 74_37 -1 known silent c.537 p.T179 0.124 pirsf_Guanine_nucleotide-bd_bsu,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pirsf_Guanine_nucleotide-bd_bsu,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_Gprotein_B,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors GNB1 HGNC ENSG00000078369 46 0 0 25 16 39.0244 CROCC 0 genome.wustl.edu 37 1 17250898 17250898 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 17250898 17250898 G A SNP CROCC ENST00000375541 human ensembl 74_37 +1 known missense c.275 p.R92H 1.000 NULL superfamily_Prefoldin,superfamily_t-SNARE - no_errors CROCC HGNC ENSG00000058453 40 0 0 23 11 32.3529 TNN 0 genome.wustl.edu 37 1 175046823 175046823 + Missense_Mutation SNP T T A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 175046823 175046823 T A SNP TNN ENST00000239462 human ensembl 74_37 +1 known missense c.269 p.I90N 1.000 NULL pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_Fibronectin_type3 - no_errors TNN HGNC ENSG00000120332 68 0 0 66 22 25 TNN 0 genome.wustl.edu 37 1 175048797 175048797 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 175048797 175048797 C T SNP TNN ENST00000239462 human ensembl 74_37 +1 known silent c.738 p.G246 0.999 pfam_EGF_extracell,smart_EG-like_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_Fibronectin_type3 - no_errors TNN HGNC ENSG00000120332 23 0 0 21 19 47.5 TNN 0 genome.wustl.edu 37 1 175116131 175116131 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 175116131 175116131 G A SNP TNN ENST00000239462 human ensembl 74_37 +1 known missense c.3824 p.R1275H 1.000 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_Fibronectin_type3 - no_errors TNN HGNC ENSG00000120332 64 0 0 42 15 26.3158 TNR 0 genome.wustl.edu 37 1 175334184 175334184 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 175334184 175334184 G A SNP TNR ENST00000263525 human ensembl 74_37 -1 known missense c.2549 p.T850I 0.318 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_Fibronectin_type3 - no_errors TNR HGNC ENSG00000116147 130 0 0 79 32 28.8288 TNR 0 genome.wustl.edu 37 1 175360460 175360460 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 175360460 175360460 C T SNP TNR ENST00000263525 human ensembl 74_37 -1 known missense c.1471 p.A491T 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_Fibronectin_type3 - no_errors TNR HGNC ENSG00000116147 91 0 0 36 54 60 PAPPA2 0 genome.wustl.edu 37 1 176738824 176738824 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 176738824 176738824 C T SNP PAPPA2 ENST00000367662 human ensembl 74_37 +1 known missense c.4405 p.P1469S 0.230 superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA2 HGNC ENSG00000116183 127 0 0 146 19 11.5152 ASTN1 0 genome.wustl.edu 37 1 177001852 177001852 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 177001852 177001852 T C SNP ASTN1 ENST00000367654 human ensembl 74_37 -1 known missense c.605 p.H202R 1.000 NULL superfamily_Fibronectin_type3,smart_EG-like_dom,smart_MACPF,pfscan_Fibronectin_type3 - no_errors ASTN1 HGNC ENSG00000152092 91 0 0 122 7 5.42636 RASAL2 0 genome.wustl.edu 37 1 178425926 178425926 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 178425926 178425926 C T SNP RASAL2 ENST00000367649 human ensembl 74_37 +1 known missense c.2282 p.T761M 1.000 pfam_DUF3498,superfamily_Rho_GTPase_activation_prot,smart_RasGAP pfam_DUF3498,pfam_RasGAP,pfam_Pleckstrin_homology,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,superfamily_PP1_inhibitor,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP - no_errors RASAL2 HGNC ENSG00000075391 277 0 0 235 68 22.4422 ABL2 0 genome.wustl.edu 37 1 179077212 179077212 + Missense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 179077212 179077212 C A SNP ABL2 ENST00000502732 human ensembl 74_37 -1 known missense c.3190 p.G1064C 1.000 pfam_F-actin_binding,smart_F-actin_binding pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_F-actin_binding,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,pfam_SH3-like_bac-type,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_F-actin_binding,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors ABL2 HGNC ENSG00000143322 84 0 0 81 26 24.2991 ABL2 0 genome.wustl.edu 37 1 179089336 179089336 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 179089336 179089336 A G SNP ABL2 ENST00000502732 human ensembl 74_37 -1 known missense c.1034 p.V345A 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 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_F-actin_binding,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,pfam_SH3-like_bac-type,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_F-actin_binding,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors ABL2 HGNC ENSG00000143322 146 0 0 48 90 65.2174 ARHGEF10L 0 genome.wustl.edu 37 1 17949635 17949635 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 17949635 17949635 T C SNP ARHGEF10L ENST00000361221 human ensembl 74_37 +1 known missense c.1165 p.S389P 0.012 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF10L HGNC ENSG00000074964 104 0 0 50 21 29.5775 ARHGEF10L 0 genome.wustl.edu 37 1 18014076 18014076 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 18014076 18014076 C T SNP ARHGEF10L ENST00000361221 human ensembl 74_37 +1 known silent c.3018 p.F1006 0.982 superfamily_WD40_repeat_dom pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF10L HGNC ENSG00000074964 71 0 0 57 4 6.55738 ARHGEF10L 0 genome.wustl.edu 37 1 18014129 18014129 + Missense_Mutation SNP G G C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 18014129 18014129 G C SNP ARHGEF10L ENST00000361221 human ensembl 74_37 +1 known missense c.3071 p.S1024T 1.000 superfamily_WD40_repeat_dom pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF10L HGNC ENSG00000074964 78 0 0 34 34 50 CACNA1E 0 genome.wustl.edu 37 1 181702772 181702772 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 181702772 181702772 G A SNP CACNA1E ENST00000367573 human ensembl 74_37 +1 known missense c.3148 p.E1050K 0.994 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su - no_errors CACNA1E HGNC ENSG00000198216 34 0 0 22 9 29.0323 CACNA1E 0 genome.wustl.edu 37 1 181754546 181754546 + Nonsense_Mutation SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 181754546 181754546 G T SNP CACNA1E ENST00000367573 human ensembl 74_37 +1 known nonsense c.5671 p.E1891* 1.000 pfam_VDCC_a1su_IQ pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su - no_errors CACNA1E HGNC ENSG00000198216 17 0 0 24 18 42.8571 LAMC1 0 genome.wustl.edu 37 1 182993180 182993180 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 182993180 182993180 A G SNP LAMC1 ENST00000258341 human ensembl 74_37 +1 known missense c.329 p.N110S 1.000 pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N pfam_Laminin_N,pfam_EGF_laminin,pfam_Laminin_B_type_IV,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMC1 HGNC ENSG00000135862 36 0 0 30 7 18.9189 SMG7 0 genome.wustl.edu 37 1 183510196 183510196 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 183510196 183510196 G A SNP SMG7 ENST00000507469 human ensembl 74_37 +1 known missense c.1373 p.R458H 1.000 NULL pfam_EST1 - no_errors SMG7 HGNC ENSG00000116698 170 0 0 140 70 33.3333 SWT1 0 genome.wustl.edu 37 1 185151180 185151180 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 185151180 185151180 T C SNP SWT1 ENST00000367500 human ensembl 74_37 +1 known missense c.1129 p.S377P 0.813 NULL smart_PIN_dom - no_errors SWT1 HGNC ENSG00000116668 81 0 0 83 5 5.68182 HMCN1 0 genome.wustl.edu 37 1 186056769 186056769 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 186056769 186056769 A G SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known missense c.9355 p.K3119E 0.903 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_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 125 0 0 97 9 8.49057 HMCN1 0 genome.wustl.edu 37 1 186060030 186060030 + Missense_Mutation SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 186060030 186060030 G T SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known missense c.9868 p.G3290C 0.033 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,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 78 0 0 45 11 19.6429 PRG4 0 genome.wustl.edu 37 1 186276815 186276815 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 186276815 186276815 A G SNP PRG4 ENST00000445192 human ensembl 74_37 +1 known missense c.1964 p.E655G 0.001 NULL pfam_Somatomedin_B_dom,pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Somatomedin_B_dom,smart_Hemopexin-like_repeat,prints_Somatomedin_B_chordata,pfscan_Somatomedin_B_dom - no_errors PRG4 HGNC ENSG00000116690 76 0 0 46 88 65.6716 BRINP3 0 genome.wustl.edu 37 1 190129864 190129864 + Missense_Mutation SNP A A T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 190129864 190129864 A T SNP BRINP3 ENST00000367462 human ensembl 74_37 -1 known missense c.1118 p.V373E 1.000 NULL pfam_MACPF,smart_MACPF - no_errors BRINP3 HGNC ENSG00000162670 127 0 0 33 51 60.7143 BRINP3 0 genome.wustl.edu 37 1 190129921 190129921 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 190129921 190129921 C T SNP BRINP3 ENST00000367462 human ensembl 74_37 -1 known missense c.1061 p.R354H 1.000 NULL pfam_MACPF,smart_MACPF - no_errors BRINP3 HGNC ENSG00000162670 145 0 0 87 31 26.2712 PAX7 0 genome.wustl.edu 37 1 19027170 19027170 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 19027170 19027170 C T SNP PAX7 ENST00000375375 human ensembl 74_37 +1 known silent c.810 p.A270 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Paired_dom,pfam_Homeobox_dom,pfam_Pax7,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeobox_dom,prints_Paired_dom,pfscan_Homeobox_dom,pfscan_Paired_dom - no_errors PAX7 HGNC ENSG00000009709 94 0 0 44 40 47.619 TAS1R2 0 genome.wustl.edu 37 1 19181075 19181075 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 19181075 19181075 C T SNP TAS1R2 ENST00000375371 human ensembl 74_37 -1 novel missense c.889 p.V297M 0.944 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3 - no_errors TAS1R2 HGNC ENSG00000179002 43 0 0 60 5 7.69231 AKR7A3 0 genome.wustl.edu 37 1 19611268 19611268 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 19611268 19611268 T C SNP AKR7A3 ENST00000361640 human ensembl 74_37 -1 known missense c.616 p.T206A 1.000 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom - no_errors AKR7A3 HGNC ENSG00000162482 111 0 0 67 36 34.9515 GABRD 0 genome.wustl.edu 37 1 1961127 1961127 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 1961127 1961127 G A SNP GABRD ENST00000378585 human ensembl 74_37 +1 known missense c.985 p.A329T 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAd_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRD HGNC ENSG00000187730 78 0 0 60 11 15.493 PQLC2 0 genome.wustl.edu 37 1 19652784 19652784 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 19652784 19652784 C T SNP PQLC2 ENST00000375153 human ensembl 74_37 +1 known missense c.428 p.A143V 0.000 NULL superfamily_MFS_dom_general_subst_transpt,smart_CTNS - no_errors PQLC2 HGNC ENSG00000040487 44 0 0 31 15 32.6087 ASPM 0 genome.wustl.edu 37 1 197069676 197069676 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 197069676 197069676 T C SNP ASPM ENST00000367409 human ensembl 74_37 -1 known missense c.8705 p.Q2902R 0.924 superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_IQ_motif_EF-hand-BS pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS - no_errors ASPM HGNC ENSG00000066279 54 0 0 19 36 65.4545 DENND1B 0 genome.wustl.edu 37 1 197611862 197611862 + Silent SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 197611862 197611862 A G SNP DENND1B ENST00000367396 human ensembl 74_37 -1 known silent c.651 p.I217 1.000 pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND1B HGNC ENSG00000213047 37 0 0 11 20 64.5161 HTR6 0 genome.wustl.edu 37 1 20005157 20005157 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 20005157 20005157 G A SNP HTR6 ENST00000289753 human ensembl 74_37 +1 known missense c.812 p.G271D 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_5HT6_rcpt,prints_GPCR_Rhodpsn - no_errors HTR6 HGNC ENSG00000158748 52 0 0 31 21 40.3846 HTR6 0 genome.wustl.edu 37 1 20005700 20005700 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 20005700 20005700 G A SNP HTR6 ENST00000289753 human ensembl 74_37 +1 known missense c.1162 p.G388S 0.825 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_5HT6_rcpt,prints_GPCR_Rhodpsn - no_errors HTR6 HGNC ENSG00000158748 12 0 0 11 5 31.25 KIF14 0 genome.wustl.edu 37 1 200572373 200572373 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 200572373 200572373 G A SNP KIF14 ENST00000367350 human ensembl 74_37 -1 known missense c.1960 p.R654C 1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF14 HGNC ENSG00000118193 81 0 0 69 16 18.8235 CAMSAP2 0 genome.wustl.edu 37 1 200818775 200818775 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 200818775 200818775 C T SNP CAMSAP2 ENST00000236925 human ensembl 74_37 +1 known missense c.2911 p.P971S 1.000 NULL pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrel-like,superfamily_CH-domain - no_errors CAMSAP2 HGNC ENSG00000118200 188 0 0 141 43 23.3696 CACNA1S 0 genome.wustl.edu 37 1 201047074 201047074 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 201047074 201047074 C T SNP CACNA1S ENST00000362061 human ensembl 74_37 -1 known missense c.1552 p.A518T 0.659 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_VDCC_L_a1ssu - no_errors CACNA1S HGNC ENSG00000081248 78 0 0 66 4 5.71429 PKP1 0 genome.wustl.edu 37 1 201282596 201282596 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 201282596 201282596 G A SNP PKP1 ENST00000263946 human ensembl 74_37 +1 known silent c.609 p.P203 0.141 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors PKP1 HGNC ENSG00000081277 22 0 0 23 22 48.8889 NAV1 0 genome.wustl.edu 37 1 201618347 201618347 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 201618347 201618347 C T SNP NAV1 ENST00000367296 human ensembl 74_37 +1 known missense c.551 p.P184L 1.000 NULL superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors NAV1 HGNC ENSG00000134369 26 0 0 40 8 16.6667 RNPEP 0 genome.wustl.edu 37 1 201970518 201970518 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 201970518 201970518 G A SNP RNPEP ENST00000295640 human ensembl 74_37 +1 known missense c.1219 p.D407N 0.931 pfam_Peptidase_M1_N pfam_Peptidase_M1_N,pfam_Peptidase_M1_C,superfamily_ARM-type_fold,prints_Peptidase_M1_N - no_errors RNPEP HGNC ENSG00000176393 59 0 0 50 13 20.6349 SYT2 0 genome.wustl.edu 37 1 202569569 202569569 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 202569569 202569569 G A SNP SYT2 ENST00000367267 human ensembl 74_37 -1 known missense c.835 p.R279C 1.000 superfamily_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin,prints_C2_dom - no_errors SYT2 HGNC ENSG00000143858 108 0 0 59 75 55.9701 SYT2 0 genome.wustl.edu 37 1 202572238 202572238 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 202572238 202572238 G A SNP SYT2 ENST00000367267 human ensembl 74_37 -1 known silent c.354 p.D118 0.050 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin,prints_C2_dom - no_errors SYT2 HGNC ENSG00000143858 105 0 0 75 22 22.6804 MYOG 0 genome.wustl.edu 37 1 203055031 203055031 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 203055031 203055031 T C SNP MYOG ENST00000241651 human ensembl 74_37 -1 known missense c.59 p.E20G 0.996 pfam_Basic,smart_Basic pfam_Basic,pfam_bHLH_dom,superfamily_bHLH_dom,smart_Basic,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MYOG HGNC ENSG00000122180 66 0 0 83 8 8.79121 MYBPH 0 genome.wustl.edu 37 1 203143632 203143632 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 203143632 203143632 A G SNP MYBPH ENST00000255416 human ensembl 74_37 -1 known missense c.434 p.V145A 0.989 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYBPH HGNC ENSG00000133055 48 0 0 41 23 35.9375 CHIT1 0 genome.wustl.edu 37 1 203192702 203192702 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 203192702 203192702 C T SNP CHIT1 ENST00000367229 human ensembl 74_37 -1 known missense c.401 p.G134D 1.000 pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II pfam_Glyco_hydro18cat,pfam_Chitin-bd_dom,superfamily_Glycoside_hydrolase_SF,superfamily_Chitin-bd_dom,smart_Chitinase_II,smart_Chitin-bd_dom,pfscan_Chitin-bd_dom - no_errors CHIT1 HGNC ENSG00000133063 129 0 0 70 100 58.8235 OPTC 0 genome.wustl.edu 37 1 203467949 203467949 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 203467949 203467949 G A SNP OPTC ENST00000367222 human ensembl 74_37 +1 known missense c.511 p.E171K 0.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors OPTC HGNC ENSG00000188770 61 0 0 75 37 33.0357 LRRN2 0 genome.wustl.edu 37 1 204588366 204588366 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 204588366 204588366 A G SNP LRRN2 ENST00000367175 human ensembl 74_37 -1 known missense c.755 p.V252A 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRRN2 HGNC ENSG00000170382 91 0 0 74 30 28.8462 LRRN2 0 genome.wustl.edu 37 1 204589060 204589060 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 204589060 204589060 G A SNP LRRN2 ENST00000367175 human ensembl 74_37 -1 known missense c.61 p.P21S 0.980 NULL pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRRN2 HGNC ENSG00000170382 33 0 0 29 15 34.0909 NFASC 0 genome.wustl.edu 37 1 204985509 204985509 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 204985509 204985509 G A SNP NFASC ENST00000367172 human ensembl 74_37 +1 known missense c.3886 p.D1296N 1.000 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors NFASC HGNC ENSG00000163531 214 0 0 105 135 56.25 UBXN10 0 genome.wustl.edu 37 1 20517261 20517261 + Silent SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 20517261 20517261 C A SNP UBXN10 ENST00000375099 human ensembl 74_37 +1 known silent c.207 p.A69 0.024 NULL pfam_UBX,smart_UBX,pfscan_UBX - no_errors UBXN10 HGNC ENSG00000162543 140 0 0 125 10 7.40741 UBXN10 0 genome.wustl.edu 37 1 20517393 20517393 + Missense_Mutation SNP G G C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 20517393 20517393 G C SNP UBXN10 ENST00000375099 human ensembl 74_37 +1 known missense c.339 p.K113N 0.925 NULL pfam_UBX,smart_UBX,pfscan_UBX - no_errors UBXN10 HGNC ENSG00000162543 115 0 0 87 15 14.7059 CDK18 0 genome.wustl.edu 37 1 205496979 205496979 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 205496979 205496979 C T SNP CDK18 ENST00000506784 human ensembl 74_37 +1 known missense c.877 p.H293Y 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 CDK18 HGNC ENSG00000117266 171 0 0 141 33 18.9655 C1orf186 0 genome.wustl.edu 37 1 206241649 206241649 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 206241649 206241649 G A SNP C1orf186 ENST00000331555 human ensembl 74_37 -1 novel missense c.140 p.A47V 0.000 NULL NULL - no_errors C1orf186 HGNC ENSG00000196533 71 0 0 68 21 23.5955 EIF2D 0 genome.wustl.edu 37 1 206784635 206784635 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 206784635 206784635 A G SNP EIF2D ENST00000271764 human ensembl 74_37 -1 known missense c.149 p.I50T 0.147 NULL pfam_TIF_SUI1,superfamily_TIF_SUI1,superfamily_SWIB_MDM2_domain,superfamily_PUA-like_domain,smart_PUA,pfscan_PUA,pfscan_TIF_SUI1 - no_errors EIF2D HGNC ENSG00000143486 67 0 0 49 17 25.7576 DYRK3 0 genome.wustl.edu 37 1 206821130 206821130 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 206821130 206821130 C T SNP DYRK3 ENST00000367109 human ensembl 74_37 +1 known missense c.587 p.A196V 1.000 superfamily_Kinase-like_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 DYRK3 HGNC ENSG00000143479 187 0 0 128 48 27.2727 CR1 0 genome.wustl.edu 37 1 207739262 207739262 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 207739262 207739262 T C SNP CR1 ENST00000367049 human ensembl 74_37 +1 known missense c.3946 p.C1316R 0.873 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CR1 HGNC ENSG00000203710 123 0 0 80 32 28.5714 CR1 0 genome.wustl.edu 37 1 207787753 207787753 + Nonsense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 207787753 207787753 C T SNP CR1 ENST00000367049 human ensembl 74_37 +1 known nonsense c.6580 p.R2194* 0.477 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CR1 HGNC ENSG00000203710 48 0 0 70 7 9.09091 PLXNA2 0 genome.wustl.edu 37 1 208202363 208202363 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 208202363 208202363 G A SNP PLXNA2 ENST00000367033 human ensembl 74_37 -1 known silent c.5250 p.N1750 0.964 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA2 HGNC ENSG00000076356 93 0 0 105 9 7.89474 FAM43B 0 genome.wustl.edu 37 1 20879814 20879814 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 20879814 20879814 G A SNP FAM43B ENST00000332947 human ensembl 74_37 +1 known silent c.348 p.P116 0.999 smart_PTB/PI_dom smart_PTB/PI_dom - no_errors FAM43B HGNC ENSG00000183114 8 0 0 8 5 38.4615 FAM43B 0 genome.wustl.edu 37 1 20879828 20879828 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 20879828 20879828 T C SNP FAM43B ENST00000332947 human ensembl 74_37 +1 known missense c.362 p.M121T 1.000 smart_PTB/PI_dom smart_PTB/PI_dom - no_errors FAM43B HGNC ENSG00000183114 8 0 0 6 3 33.3333 PINK1 0 genome.wustl.edu 37 1 20976990 20976990 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 20976990 20976990 G A SNP PINK1 ENST00000321556 human ensembl 74_37 +1 known missense c.1552 p.A518T 0.923 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors PINK1 HGNC ENSG00000158828 49 0 0 24 24 50 IRF6 0 genome.wustl.edu 37 1 209965706 209965706 + Nonsense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 209965706 209965706 C T SNP IRF6 ENST00000367021 human ensembl 74_37 -1 known nonsense c.575 p.W192* 1.000 NULL pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF6 HGNC ENSG00000117595 67 0 0 40 52 56.5217 EIF4G3 0 genome.wustl.edu 37 1 21167512 21167512 + Nonsense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 21167512 21167512 G A SNP EIF4G3 ENST00000374937 human ensembl 74_37 -1 known nonsense c.3748 p.Q1250* 1.000 pfam_Initiation_fac_eIF4g_MI,superfamily_ARM-type_fold,smart_Initiation_fac_eIF4g_MI pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain - no_errors EIF4G3 HGNC ENSG00000075151 72 0 0 64 4 5.88235 DTL 0 genome.wustl.edu 37 1 212274197 212274197 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 212274197 212274197 C T SNP DTL ENST00000366991 human ensembl 74_37 +1 known missense c.1865 p.P622L 0.999 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DTL HGNC ENSG00000143476 105 0 0 62 36 36.7347 ANGEL2 0 genome.wustl.edu 37 1 213180445 213180445 + RNA SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 213180445 213180445 A G SNP ANGEL2 ENST00000460337 human ensembl 74_37 -1 known rna NULL NULL 0.009 - - - no_errors ANGEL2 HGNC ENSG00000174606 59 0 0 39 5 11.3636 USH2A 0 genome.wustl.edu 37 1 215847625 215847625 + Missense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 215847625 215847625 C A SNP USH2A ENST00000366943 human ensembl 74_37 -1 known missense c.13628 p.R4543M 0.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 134 0 0 60 72 54.5455 SKI 0 genome.wustl.edu 37 1 2161173 2161173 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 2161173 2161173 G A SNP SKI ENST00000378536 human ensembl 74_37 +1 known missense c.968 p.R323Q 1.000 NULL pfam_c-SKI_SMAD4-bd_dom,pfam_Transform_Ski,superfamily_SAND_dom-like,superfamily_DNA-bd_dom_put - no_errors SKI HGNC ENSG00000157933 8 0 0 5 4 44.4444 SPATA17 0 genome.wustl.edu 37 1 218036193 218036193 + Silent SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 218036193 218036193 A G SNP SPATA17 ENST00000366933 human ensembl 74_37 +1 known silent c.1083 p.V361 0.954 NULL pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors SPATA17 HGNC ENSG00000162814 169 0 0 48 50 51.0204 ALPL 0 genome.wustl.edu 37 1 21887702 21887702 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 21887702 21887702 C T SNP ALPL ENST00000374832 human ensembl 74_37 +1 known silent c.294 p.S98 1.000 pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase,prints_Alkaline_phosphatase - no_errors ALPL HGNC ENSG00000162551 19 0 0 6 5 45.4545 SLC30A10 0 genome.wustl.edu 37 1 220091799 220091799 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 220091799 220091799 G A SNP SLC30A10 ENST00000366926 human ensembl 74_37 -1 known silent c.756 p.S252 0.000 pfam_Cation_efflux,tigrfam_Cation_efflux pfam_Cation_efflux,tigrfam_Cation_efflux - no_errors SLC30A10 HGNC ENSG00000196660 145 0 0 180 67 27.1255 BPNT1 0 genome.wustl.edu 37 1 220233097 220233097 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 220233097 220233097 C T SNP BPNT1 ENST00000322067 human ensembl 74_37 -1 known missense c.709 p.V237I 1.000 pfam_Inositol_monophosphatase pfam_Inositol_monophosphatase - no_errors BPNT1 HGNC ENSG00000162813 179 0 0 58 70 54.6875 MARK1 0 genome.wustl.edu 37 1 220825486 220825486 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 220825486 220825486 G A SNP MARK1 ENST00000366917 human ensembl 74_37 +1 known missense c.1730 p.R577Q 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_KA1_dom,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom - no_errors MARK1 HGNC ENSG00000116141 75 0 0 55 18 24.6575 HLX 0 genome.wustl.edu 37 1 221057925 221057925 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 221057925 221057925 C T SNP HLX ENST00000366903 human ensembl 74_37 +1 known missense c.1346 p.A449V 0.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa - no_errors HLX HGNC ENSG00000136630 19 0 0 12 10 45.4545 TAF1A 0 genome.wustl.edu 37 1 222732052 222732052 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 222732052 222732052 G A SNP TAF1A ENST00000350027 human ensembl 74_37 -1 known missense c.1303 p.R435W 0.930 pirsf_RNA_pol_I_TAF1A/TAFI48 pirsf_RNA_pol_I_TAF1A/TAFI48 - no_errors TAF1A HGNC ENSG00000143498 79 0 0 24 24 50 FBXO28 0 genome.wustl.edu 37 1 224302029 224302029 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 224302029 224302029 G A SNP FBXO28 ENST00000366862 human ensembl 74_37 +1 known silent c.198 p.A66 1.000 superfamily_F-box_dom,pfscan_F-box_dom pfam_F-box_dom,superfamily_F-box_dom,pfscan_F-box_dom - no_errors FBXO28 HGNC ENSG00000143756 16 0 0 13 6 31.5789 WNT4 0 genome.wustl.edu 37 1 22447841 22447841 + Nonsense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 22447841 22447841 G A SNP WNT4 ENST00000290167 human ensembl 74_37 -1 known nonsense c.451 p.Q151* 1.000 pfam_Wnt,smart_Wnt,prints_Wnt pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt4 - no_errors WNT4 HGNC ENSG00000162552 128 0 0 62 31 33.3333 PSEN2 0 genome.wustl.edu 37 1 227076545 227076545 + Silent SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 227076545 227076545 C A SNP PSEN2 ENST00000391872 human ensembl 74_37 +1 known silent c.681 p.T227 0.560 pfam_Peptidase_A22A,smart_Preselin/SPP pfam_Peptidase_A22A,smart_Preselin/SPP,prints_Pept_A22A_PS2,prints_Peptidase_A22A - no_errors PSEN2 HGNC ENSG00000143801 91 0 0 79 29 26.8519 C1orf35 0 genome.wustl.edu 37 1 228290076 228290076 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 228290076 228290076 C T SNP C1orf35 ENST00000272139 human ensembl 74_37 -1 known missense c.382 p.V128M 0.982 NULL pfam_Kinase_phosphorylation_domain - no_errors C1orf35 HGNC ENSG00000143793 24 0 0 25 4 13.7931 GUK1 0 genome.wustl.edu 37 1 228336464 228336464 + Missense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 228336464 228336464 C A SNP GUK1 ENST00000366728 human ensembl 74_37 +1 known missense c.637 p.P213T 0.002 NULL pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,smart_GK/Ca_channel_bsu,pfscan_Guanylate_kin-like,tigrfam_Guanylate_kinase - no_errors GUK1 HGNC ENSG00000143774 23 0 0 36 9 20 IBA57 0 genome.wustl.edu 37 1 228362618 228362618 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 228362618 228362618 G A SNP IBA57 ENST00000366711 human ensembl 74_37 +1 known silent c.567 p.P189 0.930 pfam_GCV_T_N pfam_GCV_T_N,pfam_GCV_T_C,tigrfam_YgfZ/GcvT_CS - no_errors IBA57 HGNC ENSG00000181873 19 0 0 26 16 38.0952 OBSCN 0 genome.wustl.edu 37 1 228430986 228430986 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 228430986 228430986 C T SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known missense c.3032 p.T1011M 0.984 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 41 0 0 62 22 26.1905 OBSCN 0 genome.wustl.edu 37 1 228468439 228468439 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 228468439 228468439 C T SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known silent c.8139 p.A2713 0.005 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_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 64 0 0 39 60 60.6061 OBSCN 0 genome.wustl.edu 37 1 228475464 228475464 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 228475464 228475464 G A SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known missense c.9614 p.R3205H 1.000 pfam_Ig_I-set,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_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 62 0 0 33 53 61.6279 TRIM11 0 genome.wustl.edu 37 1 228582509 228582509 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 228582509 228582509 G A SNP TRIM11 ENST00000284551 human ensembl 74_37 -1 known missense c.1304 p.S435L 0.966 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM11 HGNC ENSG00000154370 53 0 0 65 15 18.75 TRIM11 0 genome.wustl.edu 37 1 228584976 228584976 + RNA SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 228584976 228584976 C T SNP TRIM11 ENST00000475775 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors TRIM11 HGNC ENSG00000154370 16 0 0 6 4 40 TRIM17 0 genome.wustl.edu 37 1 228596398 228596398 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 228596398 228596398 C T SNP TRIM17 ENST00000295033 human ensembl 74_37 -1 known missense c.938 p.S313N 1.000 superfamily_ConA-like_lec_gl_sf,smart_PRY,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM17 HGNC ENSG00000162931 79 0 0 57 81 58.6957 TAF5L 0 genome.wustl.edu 37 1 229738579 229738579 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 229738579 229738579 G A SNP TAF5L ENST00000258281 human ensembl 74_37 -1 known missense c.335 p.P112L 1.000 pfam_TFIID-su_WD40-assoc_reg pfam_WD40_repeat,pfam_TFIID-su_WD40-assoc_reg,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TAF5L HGNC ENSG00000135801 90 0 0 57 24 29.6296 PGBD5 0 genome.wustl.edu 37 1 230492809 230492809 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 230492809 230492809 C T SNP PGBD5 ENST00000321327 human ensembl 74_37 -1 known missense c.680 p.R227H 0.203 NULL NULL - no_errors PGBD5 HGNC ENSG00000177614 86 0 0 68 23 25.2747 COG2 0 genome.wustl.edu 37 1 230827229 230827229 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 230827229 230827229 C T SNP COG2 ENST00000366669 human ensembl 74_37 +1 known silent c.2034 p.P678 0.000 pfam_COG_complex_COG2_C pfam_COG_complex_COG2_C,pfam_COG_su2_N - no_errors COG2 HGNC ENSG00000135775 86 0 0 80 14 14.8936 LUZP1 0 genome.wustl.edu 37 1 23415446 23415446 + Missense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 23415446 23415446 C A SNP LUZP1 ENST00000302291 human ensembl 74_37 -1 known missense c.3173 p.G1058V 0.052 NULL NULL - no_errors LUZP1 HGNC ENSG00000169641 102 0 0 98 8 7.54717 LUZP1 0 genome.wustl.edu 37 1 23417973 23417973 + Nonsense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 23417973 23417973 G A SNP LUZP1 ENST00000302291 human ensembl 74_37 -1 known nonsense c.2782 p.R928* 0.998 NULL NULL - no_errors LUZP1 HGNC ENSG00000169641 159 0 0 63 34 35.0515 HTR1D 0 genome.wustl.edu 37 1 23520194 23520194 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 23520194 23520194 C T SNP HTR1D ENST00000314113 human ensembl 74_37 -1 known silent c.519 p.P173 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT1D_rcpt,prints_5HT_rcpt - no_errors HTR1D HGNC ENSG00000179546 80 0 0 61 10 14.0845 LYST 0 genome.wustl.edu 37 1 235969335 235969335 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 235969335 235969335 A G SNP LYST ENST00000389793 human ensembl 74_37 -1 known missense c.3101 p.M1034T 0.003 superfamily_ARM-type_fold pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors LYST HGNC ENSG00000143669 132 0 0 113 6 5.04202 LYST 0 genome.wustl.edu 37 1 235971775 235971775 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 235971775 235971775 C T SNP LYST ENST00000389793 human ensembl 74_37 -1 known silent c.2343 p.L781 0.995 superfamily_ARM-type_fold pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors LYST HGNC ENSG00000143669 54 0 0 54 11 16.9231 GPR137B 0 genome.wustl.edu 37 1 236306321 236306321 + Missense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 236306321 236306321 C A SNP GPR137B ENST00000366592 human ensembl 74_37 +1 known missense c.399 p.N133K 1.000 NULL NULL - no_errors GPR137B HGNC ENSG00000077585 119 0 0 112 24 17.6471 MTR 0 genome.wustl.edu 37 1 236987485 236987485 + Silent SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 236987485 236987485 T C SNP MTR ENST00000366577 human ensembl 74_37 +1 known silent c.831 p.C277 1.000 pfam_S_MeTrfase,superfamily_S_MeTrfase,pirsf_MetH,pfscan_S_MeTrfase,tigrfam_MetH pfam_S_MeTrfase,pfam_VitB12-dep_Met_synth_activ_dom,pfam_Pterin-binding,pfam_Cbl-bd_cap,pfam_Cobalamin-bd,superfamily_VitB12-dep_Met_synth_activ_dom,superfamily_S_MeTrfase,superfamily_Dihydropteroate_synth-like,superfamily_Cobalamin-bd,superfamily_Cbl-bd_cap,pirsf_MetH,pfscan_VitB12-dep_Met_synth_activ_dom,pfscan_S_MeTrfase,pfscan_Pterin-binding,tigrfam_MetH - no_errors MTR HGNC ENSG00000116984 118 1 0.840336 59 28 32.1839 MT1HL1 0 genome.wustl.edu 37 1 237167524 237167524 + Missense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 237167524 237167524 C A SNP MT1HL1 ENST00000464121 human ensembl 74_37 -1 known missense c.149 p.R50L 0.803 pfam_Metalthion_sfam_euk,superfamily_Metalthion_dom,prints_Metalthion_vert pfam_Metalthion_sfam_euk,superfamily_Metalthion_dom,prints_Metalthion_vert - no_errors MT1HL1 HGNC ENSG00000244020 72 0 0 78 5 6.0241 RYR2 0 genome.wustl.edu 37 1 237837411 237837411 + Missense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 237837411 237837411 C A SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known missense c.8600 p.P2867H 1.000 pfam_Ryanodine_rcpt pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 88 0 0 110 13 10.5691 RYR2 0 genome.wustl.edu 37 1 237969570 237969570 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 237969570 237969570 A G SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known missense c.14303 p.H4768R 1.000 pfam_Ion_trans_dom pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 72 0 0 52 15 22.3881 MDS2 0 genome.wustl.edu 37 1 23966274 23966274 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 23966274 23966274 G A SNP MDS2 ENST00000374555 human ensembl 74_37 +1 known missense c.251 p.C84Y 0.067 NULL NULL - no_errors MDS2 HGNC ENSG00000197880 9 0 0 4 5 55.5556 FMN2 0 genome.wustl.edu 37 1 240255470 240255470 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 240255470 240255470 G A SNP FMN2 ENST00000319653 human ensembl 74_37 +1 known missense c.61 p.G21S 0.970 NULL pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom - no_errors FMN2 HGNC ENSG00000155816 8 0 0 8 4 33.3333 FMN2 0 genome.wustl.edu 37 1 240257004 240257004 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 240257004 240257004 G A SNP FMN2 ENST00000319653 human ensembl 74_37 +1 known missense c.1595 p.G532D 0.888 NULL pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom - no_errors FMN2 HGNC ENSG00000155816 12 0 0 16 5 23.8095 TCEB3 0 genome.wustl.edu 37 1 24078209 24078209 + Missense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 24078209 24078209 C A SNP TCEB3 ENST00000418390 human ensembl 74_37 +1 known missense c.1192 p.P398T 0.001 NULL pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,pfscan_F-box_dom - no_errors TCEB3 HGNC ENSG00000011007 159 0 0 108 64 37.2093 KMO 0 genome.wustl.edu 37 1 241729893 241729893 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 241729893 241729893 G A SNP KMO ENST00000366559 human ensembl 74_37 +1 known missense c.790 p.A264T 0.967 pfam_mOase_FAD-bd pfam_mOase_FAD-bd,prints_Rng_hydrolase-like - no_errors KMO HGNC ENSG00000117009 111 0 0 75 17 18.4783 KIF26B 0 genome.wustl.edu 37 1 245849096 245849096 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 245849096 245849096 C T SNP KIF26B ENST00000407071 human ensembl 74_37 +1 known silent c.2811 p.D937 0.682 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF26B HGNC ENSG00000162849 34 0 0 34 14 29.1667 GRHL3 0 genome.wustl.edu 37 1 24668708 24668708 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 24668708 24668708 G A SNP GRHL3 ENST00000350501 human ensembl 74_37 +1 known missense c.1151 p.G384D 0.990 pfam_CP2 pfam_CP2,superfamily_C2_dom - no_errors GRHL3 HGNC ENSG00000158055 111 1 0.892857 66 50 43.1034 SCCPDH 0 genome.wustl.edu 37 1 246927597 246927597 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 246927597 246927597 A G SNP SCCPDH ENST00000366510 human ensembl 74_37 +1 known missense c.1040 p.Q347R 0.762 pfam_Saccharopine_DH/HSpermid_syn pfam_Saccharopine_DH/HSpermid_syn - no_errors SCCPDH HGNC ENSG00000143653 116 0 0 42 48 53.3333 AHCTF1 0 genome.wustl.edu 37 1 247024358 247024358 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 247024358 247024358 C T SNP AHCTF1 ENST00000326225 human ensembl 74_37 -1 known silent c.4002 p.P1334 0.045 NULL superfamily_Quinonprotein_ADH-like_supfam - no_errors AHCTF1 HGNC ENSG00000153207 68 0 0 50 4 7.40741 AHCTF1 0 genome.wustl.edu 37 1 247081608 247081608 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 247081608 247081608 G A SNP AHCTF1 ENST00000326225 human ensembl 74_37 -1 known missense c.92 p.A31V 1.000 NULL superfamily_Quinonprotein_ADH-like_supfam - no_errors AHCTF1 HGNC ENSG00000153207 46 0 0 36 10 21.7391 OR2C3 0 genome.wustl.edu 37 1 247694926 247694926 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 247694926 247694926 C T SNP OR2C3 ENST00000366487 human ensembl 74_37 -1 known silent c.888 p.T296 0.252 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2C3 HGNC ENSG00000196242 97 0 0 72 9 11.1111 GCSAML 0 genome.wustl.edu 37 1 247737543 247737543 + Silent SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 247737543 247737543 T C SNP GCSAML ENST00000366488 human ensembl 74_37 +1 known silent c.267 p.Y89 0.996 NULL NULL - no_errors GCSAML HGNC ENSG00000169224 102 0 0 75 11 12.7907 OR2L2 0 genome.wustl.edu 37 1 248202060 248202060 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 248202060 248202060 G A SNP OR2L2 ENST00000366479 human ensembl 74_37 +1 known missense c.491 p.C164Y 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2L2 HGNC ENSG00000203663 249 0 0 222 12 5.12821 OR2L2 0 genome.wustl.edu 37 1 248202128 248202128 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 248202128 248202128 G A SNP OR2L2 ENST00000366479 human ensembl 74_37 +1 known missense c.559 p.A187T 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2L2 HGNC ENSG00000203663 248 0 0 192 65 25.2918 OR2T2 0 genome.wustl.edu 37 1 248616514 248616514 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 248616514 248616514 G A SNP OR2T2 ENST00000342927 human ensembl 74_37 +1 known missense c.416 p.R139H 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T2 HGNC ENSG00000196240 93 0 0 73 22 23.1579 OR2T11 0 genome.wustl.edu 37 1 248790058 248790058 + Silent SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 248790058 248790058 A G SNP OR2T11 ENST00000330803 human ensembl 74_37 -1 known silent c.372 p.C124 0.378 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T11 HGNC ENSG00000183130 42 0 0 6 71 92.2078 OR2T27 0 genome.wustl.edu 37 1 248813816 248813816 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 248813816 248813816 C T SNP OR2T27 ENST00000344889 human ensembl 74_37 -1 known missense c.370 p.V124I 0.051 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 OR2T27 HGNC ENSG00000187701 45 0 0 52 12 18.75 SH3BP5L 0 genome.wustl.edu 37 1 249106189 249106189 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 249106189 249106189 G A SNP SH3BP5L ENST00000366472 human ensembl 74_37 -1 known silent c.1092 p.D364 0.627 NULL pfam_SH3-bd_5 - no_errors SH3BP5L HGNC ENSG00000175137 10 0 0 11 12 52.1739 SRRM1 0 genome.wustl.edu 37 1 24996800 24996800 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 24996800 24996800 G A SNP SRRM1 ENST00000447431 human ensembl 74_37 +1 known silent c.2430 p.P810 0.953 NULL pfam_PWI_dom,superfamily_PWI_dom,smart_PWI_dom - no_errors SRRM1 HGNC ENSG00000133226 114 0 0 76 47 38.2114 RUNX3 0 genome.wustl.edu 37 1 25245750 25245750 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 25245750 25245750 G A SNP RUNX3 ENST00000338888 human ensembl 74_37 -1 known silent c.567 p.D189 0.990 pfam_Runt_dom,superfamily_p53-like_TF_DNA-bd,pirsf_TF_Runt-rel_RUNX,pfscan_Runt_dom,prints_AML1_Runt pfam_Runt_dom,pfam_RunxI_C_dom,superfamily_p53-like_TF_DNA-bd,pirsf_TF_Runt-rel_RUNX,pfscan_Runt_dom,prints_AML1_Runt - no_errors RUNX3 HGNC ENSG00000020633 73 0 0 40 27 40.2985 STMN1 0 genome.wustl.edu 37 1 26230037 26230037 + RNA SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 26230037 26230037 T C SNP STMN1 ENST00000465604 human ensembl 74_37 -1 known rna NULL NULL 0.005 - - - no_errors STMN1 HGNC ENSG00000117632 67 0 0 18 18 50 TRIM63 0 genome.wustl.edu 37 1 26384893 26384893 + Silent SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 26384893 26384893 G T SNP TRIM63 ENST00000374272 human ensembl 74_37 -1 known silent c.819 p.A273 1.000 NULL pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM63 HGNC ENSG00000158022 153 0 0 72 46 38.9831 CNKSR1 0 genome.wustl.edu 37 1 26510765 26510765 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 26510765 26510765 C T SNP CNKSR1 ENST00000374253 human ensembl 74_37 +1 known silent c.1008 p.S336 1.000 NULL pfam_CRIC_domain_Chordata,pfam_Pleckstrin_homology,pfam_SAM_type1,superfamily_SAM/pointed,superfamily_PDZ,smart_SAM,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_SAM - no_errors CNKSR1 HGNC ENSG00000142675 183 0 0 111 30 21.2766 CATSPER4 0 genome.wustl.edu 37 1 26527938 26527938 + Silent SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 26527938 26527938 T C SNP CATSPER4 ENST00000456354 human ensembl 74_37 +1 known silent c.1293 p.T431 0.000 NULL pfam_Ion_trans_dom,pfam_PKD1_2_channel - no_errors CATSPER4 HGNC ENSG00000188782 137 0 0 70 66 48.5294 ZNF683 0 genome.wustl.edu 37 1 26691291 26691291 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 26691291 26691291 C T SNP ZNF683 ENST00000403843 human ensembl 74_37 -1 known missense c.746 p.R249Q 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF683 HGNC ENSG00000176083 91 0 0 45 34 43.038 ARID1A 0 genome.wustl.edu 37 1 27087914 27087914 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 27087914 27087914 A G SNP ARID1A ENST00000324856 human ensembl 74_37 +1 known missense c.2201 p.D734G 1.000 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ENSG00000117713 76 0 0 58 6 9.375 ZDHHC18 0 genome.wustl.edu 37 1 27175193 27175193 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 27175193 27175193 C T SNP ZDHHC18 ENST00000374142 human ensembl 74_37 +1 known silent c.591 p.C197 1.000 pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC18 HGNC ENSG00000204160 82 0 0 46 20 30.303 SFN 0 genome.wustl.edu 37 1 27189799 27189799 + Missense_Mutation SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 27189799 27189799 G T SNP SFN ENST00000339276 human ensembl 74_37 +1 known missense c.96 p.K32N 0.987 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 94 0 0 51 44 46.3158 AHDC1 0 genome.wustl.edu 37 1 27875216 27875216 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 27875216 27875216 G A SNP AHDC1 ENST00000247087 human ensembl 74_37 -1 known silent c.3411 p.S1137 0.964 NULL NULL - no_errors AHDC1 HGNC ENSG00000126705 124 0 0 91 66 42.0382 AHDC1 0 genome.wustl.edu 37 1 27875591 27875591 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 27875591 27875591 G A SNP AHDC1 ENST00000247087 human ensembl 74_37 -1 known silent c.3036 p.P1012 1.000 NULL NULL - no_errors AHDC1 HGNC ENSG00000126705 49 0 0 30 23 43.3962 AHDC1 0 genome.wustl.edu 37 1 27877978 27877978 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 27877978 27877978 C T SNP AHDC1 ENST00000247087 human ensembl 74_37 -1 known missense c.649 p.G217R 0.996 NULL NULL - no_errors AHDC1 HGNC ENSG00000126705 62 0 0 45 40 47.0588 FGR 0 genome.wustl.edu 37 1 27943397 27943397 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 27943397 27943397 G A SNP FGR ENST00000374003 human ensembl 74_37 -1 known missense c.653 p.S218L 0.724 pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 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 FGR HGNC ENSG00000000938 154 0 0 113 17 13.0769 FAM76A 0 genome.wustl.edu 37 1 28060599 28060599 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 28060599 28060599 C T SNP FAM76A ENST00000010299 human ensembl 74_37 +1 known missense c.361 p.R121C 1.000 NULL NULL - no_errors FAM76A HGNC ENSG00000009780 91 0 0 28 22 44 EYA3 0 genome.wustl.edu 37 1 28362100 28362100 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 28362100 28362100 C T SNP EYA3 ENST00000373871 human ensembl 74_37 -1 known missense c.316 p.A106T 0.994 NULL pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA - no_errors EYA3 HGNC ENSG00000158161 186 0 0 88 49 35.7664 DNAJC8 0 genome.wustl.edu 37 1 28534975 28534975 + RNA SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 28534975 28534975 A G SNP DNAJC8 ENST00000470967 human ensembl 74_37 -1 known rna NULL NULL 0.202 - - - no_errors DNAJC8 HGNC ENSG00000126698 8 0 0 8 3 27.2727 PHACTR4 0 genome.wustl.edu 37 1 28819566 28819566 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 28819566 28819566 G A SNP PHACTR4 ENST00000373836 human ensembl 74_37 +1 known missense c.2086 p.E696K 1.000 NULL pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat - no_errors PHACTR4 HGNC ENSG00000204138 127 0 0 43 28 39.4366 OPRD1 0 genome.wustl.edu 37 1 29185674 29185674 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 29185674 29185674 C T SNP OPRD1 ENST00000234961 human ensembl 74_37 +1 known missense c.436 p.R146C 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Delta_opi_rcpt,prints_Opioid_rcpt,prints_Neuropept_B/W_rcpt,prints_Somatstn_rcpt,prints_NPY_rcpt - no_errors OPRD1 HGNC ENSG00000116329 92 0 0 57 52 47.7064 EPB41 0 genome.wustl.edu 37 1 29319963 29319963 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 29319963 29319963 T C SNP EPB41 ENST00000343067 human ensembl 74_37 +1 known missense c.590 p.L197S 0.000 pirsf_Band_41_protein pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB_dom,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like,pfscan_FERM_domain - no_errors EPB41 HGNC ENSG00000159023 115 0 0 93 10 9.70874 PTPRU 0 genome.wustl.edu 37 1 29630483 29630483 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 29630483 29630483 C T SNP PTPRU ENST00000345512 human ensembl 74_37 +1 known missense c.2623 p.R875C 1.000 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRU HGNC ENSG00000060656 94 0 0 88 13 12.8713 MATN1 0 genome.wustl.edu 37 1 31189677 31189677 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 31189677 31189677 G A SNP MATN1 ENST00000373765 human ensembl 74_37 -1 known silent c.750 p.H250 0.002 pfam_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom pfam_VWF_A,pfam_Matrilin_coiled-coil_trimer,pfam_EGF-like_Ca-bd_dom,smart_VWF_A,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_VWF_A - no_errors MATN1 HGNC ENSG00000162510 55 0 0 17 13 43.3333 MATN1 0 genome.wustl.edu 37 1 31194331 31194331 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 31194331 31194331 C T SNP MATN1 ENST00000373765 human ensembl 74_37 -1 known missense c.362 p.G121D 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Matrilin_coiled-coil_trimer,pfam_EGF-like_Ca-bd_dom,smart_VWF_A,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_VWF_A - no_errors MATN1 HGNC ENSG00000162510 209 2 0.947867 178 20 10.101 HCRTR1 0 genome.wustl.edu 37 1 32086455 32086455 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 32086455 32086455 G A SNP HCRTR1 ENST00000373706 human ensembl 74_37 +1 known silent c.390 p.V130 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Orexin_rcpt,prints_GPCR_Rhodpsn,prints_Orexin_rcpt_1,prints_NPY_rcpt - no_errors HCRTR1 HGNC ENSG00000121764 180 0 0 99 67 40.3614 BAI2 0 genome.wustl.edu 37 1 32202210 32202210 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 32202210 32202210 G A SNP BAI2 ENST00000373658 human ensembl 74_37 -1 known missense c.3094 p.R1032C 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like - no_errors BAI2 HGNC ENSG00000121753 42 0 0 31 15 32.6087 BAI2 0 genome.wustl.edu 37 1 32221986 32221986 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 32221986 32221986 A G SNP BAI2 ENST00000373658 human ensembl 74_37 -1 known missense c.452 p.L151P 1.000 NULL pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like - no_errors BAI2 HGNC ENSG00000121753 31 0 0 37 15 28.8462 KPNA6 0 genome.wustl.edu 37 1 32628093 32628093 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 32628093 32628093 C T SNP KPNA6 ENST00000545542 human ensembl 74_37 +1 known silent c.894 p.S298 0.884 pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,pfam_Importin-a_IBB,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB - no_errors KPNA6 HGNC ENSG00000025800 105 0 0 44 37 45.679 ZBTB8OS 0 genome.wustl.edu 37 1 33116210 33116210 + RNA SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 33116210 33116210 C T SNP ZBTB8OS ENST00000479075 human ensembl 74_37 -1 known rna NULL NULL 0.583 - - - no_errors ZBTB8OS HGNC ENSG00000176261 109 0 0 47 15 24.1935 YARS 0 genome.wustl.edu 37 1 33241691 33241691 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 33241691 33241691 G A SNP YARS ENST00000373477 human ensembl 74_37 -1 known missense c.1478 p.A493V 0.999 superfamily_NA-bd_OB-fold pfam_aa-tRNA-synth_Ic,pfam_tRNA-bd_dom,superfamily_NA-bd_OB-fold,prints_Tyr-tRNA-ligase,pfscan_tRNA-bd_dom,tigrfam_Tyr-tRNA-ligase - no_errors YARS HGNC ENSG00000134684 28 0 0 20 11 35.4839 PRDM16 0 genome.wustl.edu 37 1 3328550 3328550 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 3328550 3328550 G A SNP PRDM16 ENST00000270722 human ensembl 74_37 +1 known missense c.1789 p.D597N 1.000 NULL pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM16 HGNC ENSG00000142611 147 0 0 92 65 41.4013 PRDM16 0 genome.wustl.edu 37 1 3328729 3328729 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 3328729 3328729 G A SNP PRDM16 ENST00000270722 human ensembl 74_37 +1 known silent c.1968 p.P656 0.000 NULL pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM16 HGNC ENSG00000142611 93 0 0 64 46 41.8182 PRDM16 0 genome.wustl.edu 37 1 3328745 3328745 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 3328745 3328745 G A SNP PRDM16 ENST00000270722 human ensembl 74_37 +1 known missense c.1984 p.V662M 0.000 NULL pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM16 HGNC ENSG00000142611 93 0 0 94 14 12.963 RNF19B 0 genome.wustl.edu 37 1 33411153 33411153 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 33411153 33411153 G A SNP RNF19B ENST00000373456 human ensembl 74_37 -1 known missense c.1226 p.S409L 0.995 NULL pfam_Znf_C6HC,smart_Znf_RING,smart_Znf_C6HC,pfscan_Znf_RING - no_errors RNF19B HGNC ENSG00000116514 82 0 0 32 21 39.6226 ADC 0 genome.wustl.edu 37 1 33585810 33585810 + RNA SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 33585810 33585810 C T SNP ADC ENST00000471119 human ensembl 74_37 +1 known rna NULL NULL 0.857 - - - no_errors ADC HGNC ENSG00000142920 68 0 0 53 9 14.5161 PHC2 0 genome.wustl.edu 37 1 33799727 33799727 + Missense_Mutation SNP T T G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 33799727 33799727 T G SNP PHC2 ENST00000419414 human ensembl 74_37 -1 known missense c.1725 p.E575D 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM,pfscan_Znf_FCS - no_errors PHC2 HGNC ENSG00000134686 109 0 0 88 10 10.2041 ARHGEF16 0 genome.wustl.edu 37 1 3391302 3391302 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 3391302 3391302 G A SNP ARHGEF16 ENST00000378378 human ensembl 74_37 +1 known missense c.1336 p.E446K 0.520 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_SH3_domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF16 HGNC ENSG00000130762 91 0 0 46 38 45.2381 ZMYM1 0 genome.wustl.edu 37 1 35580393 35580393 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 35580393 35580393 T C SNP ZMYM1 ENST00000359858 human ensembl 74_37 +1 novel missense c.2962 p.Y988H 1.000 superfamily_RNaseH-like_dom pfam_Znf_MYM,pfam_HATC_dom_C,superfamily_RNaseH-like_dom,smart_TRASH_dom - no_errors ZMYM1 HGNC ENSG00000197056 39 0 0 14 10 41.6667 CLSPN 0 genome.wustl.edu 37 1 36217106 36217106 + Silent SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 36217106 36217106 A G SNP CLSPN ENST00000318121 human ensembl 74_37 -1 known silent c.1773 p.G591 1.000 NULL NULL - no_errors CLSPN HGNC ENSG00000092853 49 0 0 18 7 28 MANEAL 0 genome.wustl.edu 37 1 38265771 38265771 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 38265771 38265771 C T SNP MANEAL ENST00000373045 human ensembl 74_37 +1 known missense c.1270 p.R424C 1.000 NULL NULL - no_errors MANEAL HGNC ENSG00000185090 142 0 0 74 40 35.0877 BMP8B 0 genome.wustl.edu 37 1 40230563 40230563 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 40230563 40230563 G A SNP BMP8B ENST00000397360 human ensembl 74_37 -1 known missense c.791 p.P264L 0.000 NULL pfam_TGF-b_N - no_errors BMP8B HGNC ENSG00000116985 47 0 0 35 7 16.6667 ZNF684 0 genome.wustl.edu 37 1 41007369 41007369 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 41007369 41007369 C T SNP ZNF684 ENST00000372699 human ensembl 74_37 +1 known silent c.225 p.H75 0.000 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 ZNF684 HGNC ENSG00000117010 33 0 0 22 6 21.4286 KCNQ4 0 genome.wustl.edu 37 1 41285124 41285124 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 41285124 41285124 G A SNP KCNQ4 ENST00000347132 human ensembl 74_37 +1 known missense c.814 p.D272N 1.000 pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ4 HGNC ENSG00000117013 150 0 0 110 11 9.09091 HIVEP3 0 genome.wustl.edu 37 1 41978664 41978664 + Missense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 41978664 41978664 C A SNP HIVEP3 ENST00000247584 human ensembl 74_37 -1 known missense c.6228 p.Q2076H 0.957 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP3 HGNC ENSG00000127124 41 0 0 28 11 28.2051 ELOVL1 0 genome.wustl.edu 37 1 43830302 43830302 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 43830302 43830302 C T SNP ELOVL1 ENST00000372458 human ensembl 74_37 -1 known missense c.392 p.R131Q 1.000 pfam_GNS1_SUR4 pfam_GNS1_SUR4 - no_errors ELOVL1 HGNC ENSG00000066322 149 0 0 66 45 40.5405 B4GALT2 0 genome.wustl.edu 37 1 44447485 44447485 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 44447485 44447485 G A SNP B4GALT2 ENST00000309519 human ensembl 74_37 +1 known silent c.525 p.A175 0.721 pfam_Galactosyl_T_C pfam_Galactosyl_T_C,prints_Galactosyl_T - no_errors B4GALT2 HGNC ENSG00000117411 78 0 0 65 20 23.5294 KLF17 0 genome.wustl.edu 37 1 44595272 44595272 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 44595272 44595272 G A SNP KLF17 ENST00000372299 human ensembl 74_37 +1 known missense c.329 p.R110Q 0.379 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF17 HGNC ENSG00000171872 159 0 0 96 65 40.3727 RNF220 0 genome.wustl.edu 37 1 44878019 44878019 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 44878019 44878019 G A SNP RNF220 ENST00000355387 human ensembl 74_37 +1 known missense c.250 p.A84T 1.000 NULL superfamily_Peptidase_M20_dimer,pfscan_Znf_RING - no_errors RNF220 HGNC ENSG00000187147 463 0 0 190 139 42.2492 BEST4 0 genome.wustl.edu 37 1 45250346 45250346 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 45250346 45250346 G A SNP BEST4 ENST00000372207 human ensembl 74_37 -1 known missense c.1103 p.A368V 0.997 NULL pfam_Bestrophin/UPF0187 - no_errors BEST4 HGNC ENSG00000142959 59 0 0 50 9 15.2542 ZSWIM5 0 genome.wustl.edu 37 1 45553798 45553798 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 45553798 45553798 C T SNP ZSWIM5 ENST00000359600 human ensembl 74_37 -1 known missense c.707 p.G236D 1.000 pfscan_Znf_SWIM pfscan_Znf_SWIM - no_errors ZSWIM5 HGNC ENSG00000162415 183 0 0 72 39 35.1351 CCDC17 0 genome.wustl.edu 37 1 46087329 46087329 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 46087329 46087329 G A SNP CCDC17 ENST00000343901 human ensembl 74_37 -1 known missense c.1069 p.P357S 1.000 NULL NULL - no_errors CCDC17 HGNC ENSG00000159588 34 0 0 25 3 10.7143 RAD54L 0 genome.wustl.edu 37 1 46726490 46726490 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 46726490 46726490 C T SNP RAD54L ENST00000371975 human ensembl 74_37 +1 known missense c.569 p.T190M 1.000 pfam_SNF2_N,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_SNF2_N,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,pfam_Rad54_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors RAD54L HGNC ENSG00000085999 53 0 0 33 34 50.7463 LRRC41 0 genome.wustl.edu 37 1 46746099 46746099 + Missense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 46746099 46746099 C A SNP LRRC41 ENST00000343304 human ensembl 74_37 -1 known missense c.1890 p.Q630H 0.999 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC41 HGNC ENSG00000132128 145 0 0 116 12 9.375 LRRC41 0 genome.wustl.edu 37 1 46746884 46746884 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 46746884 46746884 C T SNP LRRC41 ENST00000343304 human ensembl 74_37 -1 known missense c.1669 p.V557I 0.999 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC41 HGNC ENSG00000132128 88 0 0 34 29 46.0317 STIL 0 genome.wustl.edu 37 1 47717513 47717513 + Silent SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 47717513 47717513 T C SNP STIL ENST00000371877 human ensembl 74_37 -1 known silent c.3162 p.L1054 0.980 NULL NULL - no_errors STIL HGNC ENSG00000123473 122 0 0 55 37 40.2174 DMRTA2 0 genome.wustl.edu 37 1 50885025 50885025 + Missense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 50885025 50885025 C A SNP DMRTA2 ENST00000404795 human ensembl 74_37 -1 known missense c.941 p.R314L 1.000 pfam_DMA,superfamily_UBA-like pfam_DM_DNA-bd,pfam_DMA,superfamily_DM_DNA-bd,superfamily_UBA-like,smart_DM_DNA-bd,pfscan_DM_DNA-bd - no_errors DMRTA2 HGNC ENSG00000142700 66 0 0 71 4 5.33333 TTC39A 0 genome.wustl.edu 37 1 51755785 51755785 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 51755785 51755785 T C SNP TTC39A ENST00000447632 human ensembl 74_37 -1 known missense c.1493 p.E498G 1.000 pfam_OMP_IML2_mit/TPR_39 pfam_OMP_IML2_mit/TPR_39,smart_TPR_repeat - no_errors TTC39A HGNC ENSG00000085831 39 0 0 26 6 18.75 EPS15 0 genome.wustl.edu 37 1 51934212 51934212 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 51934212 51934212 G A SNP EPS15 ENST00000371733 human ensembl 74_37 -1 known missense c.242 p.A81V 1.000 smart_EPS15_homology,pfscan_EF_hand_dom,pfscan_EPS15_homology smart_EPS15_homology,smart_EF_hand_dom,smart_Ubiquitin-int_motif,pfscan_EF_hand_dom,pfscan_EPS15_homology,pfscan_Ubiquitin-int_motif - no_errors EPS15 HGNC ENSG00000085832 55 0 0 25 17 40.4762 EPS15 0 genome.wustl.edu 37 1 51938529 51938529 + Splice_Site SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 51938529 51938529 A G SNP EPS15 ENST00000371733 human ensembl 74_37 -1 known splice_site c.165+2 e3+2 1.000 - - - no_errors EPS15 HGNC ENSG00000085832 123 0 0 58 40 40.8163 FAM151A 0 genome.wustl.edu 37 1 55078225 55078225 + Missense_Mutation SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 55078225 55078225 G T SNP FAM151A ENST00000302250 human ensembl 74_37 -1 known missense c.734 p.P245H 0.998 pfam_DUF2181 pfam_DUF2181 - no_errors FAM151A HGNC ENSG00000162391 82 0 0 63 8 11.2676 C1orf177 0 genome.wustl.edu 37 1 55282759 55282759 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 55282759 55282759 G A SNP C1orf177 ENST00000371273 human ensembl 74_37 +1 known missense c.1148 p.R383H 1.000 NULL NULL - no_errors C1orf177 HGNC ENSG00000162398 62 0 0 72 5 6.49351 PCSK9 0 genome.wustl.edu 37 1 55518043 55518043 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 55518043 55518043 G A SNP PCSK9 ENST00000302118 human ensembl 74_37 +1 known missense c.616 p.E206K 0.609 pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom pfam_Peptidase_S8/S53_dom,pfam_Inhibitor_I9,superfamily_Peptidase_S8/S53_dom,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK9 HGNC ENSG00000169174 77 0 0 49 13 20.9677 PPAP2B 0 genome.wustl.edu 37 1 57002717 57002717 + Missense_Mutation SNP A A T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 57002717 57002717 A T SNP PPAP2B ENST00000371250 human ensembl 74_37 -1 known missense c.207 p.N69K 0.932 superfamily_P_Acid_Pase_2/haloperoxidase pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors PPAP2B HGNC ENSG00000162407 128 0 0 59 49 45.3704 MYSM1 0 genome.wustl.edu 37 1 59125788 59125788 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 59125788 59125788 T C SNP MYSM1 ENST00000472487 human ensembl 74_37 -1 known missense c.2368 p.N790D 1.000 NULL pfam_SWIRM,pfam_JAB_MPN_dom,pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,smart_JAB_MPN_dom,pfscan_SWIRM,pfscan_Myb-like_dom - no_errors MYSM1 HGNC ENSG00000162601 67 0 0 13 9 40.9091 INADL 0 genome.wustl.edu 37 1 62365309 62365309 + Missense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 62365309 62365309 C A SNP INADL ENST00000371158 human ensembl 74_37 +1 known missense c.3186 p.H1062Q 1.000 superfamily_PDZ pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_L27,smart_PDZ,pfscan_L27,pfscan_PDZ - no_errors INADL HGNC ENSG00000132849 171 0 0 67 49 42.2414 KANK4 0 genome.wustl.edu 37 1 62738950 62738950 + Missense_Mutation SNP A A C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 62738950 62738950 A C SNP KANK4 ENST00000371153 human ensembl 74_37 -1 known missense c.1826 p.L609R 0.998 NULL pfam_KN_motif,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KANK4 HGNC ENSG00000132854 42 0 0 37 19 33.9286 ALG6 0 genome.wustl.edu 37 1 63902675 63902675 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 63902675 63902675 A G SNP ALG6 ENST00000371108 human ensembl 74_37 +1 known missense c.1508 p.Q503R 1.000 NULL pfam_Glyco_trans_ALG6/ALG8 - no_errors ALG6 HGNC ENSG00000088035 46 0 0 23 13 36.1111 CACHD1 0 genome.wustl.edu 37 1 65143987 65143987 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 65143987 65143987 G A SNP CACHD1 ENST00000371073 human ensembl 74_37 +1 known missense c.3238 p.A1080T 0.998 NULL pfam_VWA_N,pfam_Cache_domain,pfscan_VWF_A - no_errors CACHD1 HGNC ENSG00000158966 54 0 0 12 16 57.1429 DNAJC6 0 genome.wustl.edu 37 1 65877006 65877006 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 65877006 65877006 C T SNP DNAJC6 ENST00000371069 human ensembl 74_37 +1 known missense c.2708 p.A903V 1.000 superfamily_DnaJ_domain pfam_Tensin_phosphatase_C2-dom,pfam_DnaJ_domain,superfamily_DnaJ_domain,superfamily_C2_dom,smart_DnaJ_domain,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom,pfscan_DnaJ_domain - no_errors DNAJC6 HGNC ENSG00000116675 68 0 0 63 4 5.97015 ZBTB48 0 genome.wustl.edu 37 1 6649173 6649173 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 6649173 6649173 C T SNP ZBTB48 ENST00000377674 human ensembl 74_37 +1 known silent c.1968 p.P656 0.083 NULL pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB48 HGNC ENSG00000204859 90 0 0 98 9 8.41121 THAP3 0 genome.wustl.edu 37 1 6692469 6692469 + Missense_Mutation SNP G G C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 6692469 6692469 G C SNP THAP3 ENST00000054650 human ensembl 74_37 +1 known missense c.352 p.A118P 0.000 NULL pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH - no_errors THAP3 HGNC ENSG00000041988 58 0 0 63 10 13.6986 C1orf173 0 genome.wustl.edu 37 1 75097559 75097559 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 75097559 75097559 C T SNP C1orf173 ENST00000326665 human ensembl 74_37 -1 known missense c.657 p.M219I 0.000 NULL NULL - no_errors C1orf173 HGNC ENSG00000178965 94 0 0 41 18 30.5085 IFI44L 0 genome.wustl.edu 37 1 79094073 79094073 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 79094073 79094073 T C SNP IFI44L ENST00000370751 human ensembl 74_37 +1 known missense c.473 p.V158A 1.000 superfamily_P-loop_NTPase superfamily_P-loop_NTPase - no_errors IFI44L HGNC ENSG00000137959 72 0 0 36 3 7.69231 TTLL7 0 genome.wustl.edu 37 1 84386822 84386822 + Nonsense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 84386822 84386822 G A SNP TTLL7 ENST00000260505 human ensembl 74_37 -1 known nonsense c.1312 p.R438* 1.000 NULL pfam_TTL/TTLL_fam - no_errors TTLL7 HGNC ENSG00000137941 65 0 0 29 8 21.6216 TTLL7 0 genome.wustl.edu 37 1 84415457 84415457 + RNA SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 84415457 84415457 A G SNP TTLL7 ENST00000467670 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors TTLL7 HGNC ENSG00000137941 43 0 0 8 7 46.6667 SSX2IP 0 genome.wustl.edu 37 1 85121543 85121543 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 85121543 85121543 G A SNP SSX2IP ENST00000342203 human ensembl 74_37 -1 known missense c.1361 p.T454I 1.000 NULL pfam_Afadin/alpha-actinin-bd - no_errors SSX2IP HGNC ENSG00000117155 63 0 0 16 17 51.5152 SAMD11 0 genome.wustl.edu 37 1 879333 879333 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 879333 879333 G A SNP SAMD11 ENST00000342066 human ensembl 74_37 +1 known missense c.1846 p.V616M 0.980 NULL pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors SAMD11 HGNC ENSG00000187634 90 0 0 37 36 49.3151 GBP5 0 genome.wustl.edu 37 1 89733145 89733145 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 89733145 89733145 T C SNP GBP5 ENST00000343435 human ensembl 74_37 -1 known missense c.383 p.Y128C 1.000 pfam_Guanylate-bd_N,superfamily_P-loop_NTPase pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C,superfamily_P-loop_NTPase - no_errors GBP5 HGNC ENSG00000154451 72 0 0 34 10 22.7273 EVI5 0 genome.wustl.edu 37 1 92979126 92979126 + Splice_Site SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 92979126 92979126 A G SNP EVI5 ENST00000540033 human ensembl 74_37 -1 known splice_site c.2433+2 e18+2 0.983 - - - no_errors EVI5 HGNC ENSG00000067208 19 0 0 15 8 34.7826 H6PD 0 genome.wustl.edu 37 1 9305037 9305037 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 9305037 9305037 G A SNP H6PD ENST00000377403 human ensembl 74_37 +1 known missense c.44 p.G15D 1.000 NULL pfam_G6P_DH_C,pfam_G6P_DH_NAD-bd,prints_G6P_DH,tigrfam_6-phosphogluconolactonase_DevB - no_errors H6PD HGNC ENSG00000049239 59 0 0 26 14 35 ARHGAP29 0 genome.wustl.edu 37 1 94650428 94650428 + Missense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 94650428 94650428 C A SNP ARHGAP29 ENST00000260526 human ensembl 74_37 -1 known missense c.2109 p.Q703H 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Rho_GTPase_activation_prot,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom - no_errors ARHGAP29 HGNC ENSG00000137962 50 0 0 16 12 42.8571 AGRN 0 genome.wustl.edu 37 1 984699 984699 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 984699 984699 G A SNP AGRN ENST00000379370 human ensembl 74_37 +1 known missense c.4382 p.R1461Q 0.997 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Agrin_NtA,pfam_Kazal_dom,pfam_EGF_laminin,pfam_SEA_dom,pfam_EG-like_dom,superfamily_TIMP-like_OB-fold,superfamily_ConA-like_lec_gl_sf,smart_FacI_MAC,smart_Fol_N,smart_Kazal_dom,smart_EG-like_dom,smart_EGF_laminin,smart_SEA_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Agrin_NtA,pfscan_SEA_dom - no_errors AGRN HGNC ENSG00000188157 27 0 0 26 15 36.5854 GOT1 0 genome.wustl.edu 37 10 101163225 101163225 + Splice_Site SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 101163225 101163225 C T SNP GOT1 ENST00000370508 human ensembl 74_37 -1 known splice_site c.959+1 e7+1 1.000 - - - no_errors GOT1 HGNC ENSG00000120053 121 0 0 57 24 29.6296 C10orf2 0 genome.wustl.edu 37 10 102748871 102748871 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 102748871 102748871 C T SNP C10orf2 ENST00000311916 human ensembl 74_37 +1 known missense c.904 p.R302W 0.999 NULL pfam_Circ_KaiC/RadA,pfam_DNA_helicase_DnaB-like_C,superfamily_P-loop_NTPase,pfscan_DNA_helicase_DnaB-like_C - no_errors C10orf2 HGNC ENSG00000107815 224 0 0 204 17 7.69231 C10orf2 0 genome.wustl.edu 37 10 102748967 102748967 + Nonsense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 102748967 102748967 C T SNP C10orf2 ENST00000311916 human ensembl 74_37 +1 known nonsense c.1000 p.R334* 1.000 superfamily_P-loop_NTPase pfam_Circ_KaiC/RadA,pfam_DNA_helicase_DnaB-like_C,superfamily_P-loop_NTPase,pfscan_DNA_helicase_DnaB-like_C - no_errors C10orf2 HGNC ENSG00000107815 108 0 0 54 43 44.3299 LZTS2 0 genome.wustl.edu 37 10 102766799 102766799 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 102766799 102766799 C T SNP LZTS2 ENST00000370220 human ensembl 74_37 +1 known silent c.1884 p.N628 1.000 NULL NULL - no_errors LZTS2 HGNC ENSG00000107816 12 0 0 6 8 57.1429 TLX1 0 genome.wustl.edu 37 10 102893992 102893992 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 102893992 102893992 G A SNP TLX1 ENST00000370196 human ensembl 74_37 +1 known missense c.629 p.R210H 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors TLX1 HGNC ENSG00000107807 19 0 0 12 8 40 FBXW4 0 genome.wustl.edu 37 10 103371152 103371152 + Missense_Mutation SNP A A T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 103371152 103371152 A T SNP FBXW4 ENST00000331272 human ensembl 74_37 -1 known missense c.1135 p.S379T 0.899 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors FBXW4 HGNC ENSG00000107829 44 0 0 21 17 44.7368 FBXW4 0 genome.wustl.edu 37 10 103432772 103432772 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 103432772 103432772 C T SNP FBXW4 ENST00000331272 human ensembl 74_37 -1 known missense c.575 p.S192N 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors FBXW4 HGNC ENSG00000107829 56 0 0 31 23 42.5926 GBF1 0 genome.wustl.edu 37 10 104136713 104136713 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 104136713 104136713 G A SNP GBF1 ENST00000369983 human ensembl 74_37 +1 known missense c.4307 p.R1436H 0.994 NULL pfam_Sec7_dom,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom - no_errors GBF1 HGNC ENSG00000107862 96 0 0 47 47 50 NFKB2 0 genome.wustl.edu 37 10 104159847 104159847 + Missense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 104159847 104159847 C A SNP NFKB2 ENST00000369966 human ensembl 74_37 +1 known missense c.1480 p.L494I 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt pfam_RHD,pfam_Ankyrin_rpt,pfam_Death_domain,superfamily_p53-like_TF_DNA-bd,superfamily_Ankyrin_rpt-contain_dom,superfamily_Ig_E-set,superfamily_DEATH-like_dom,smart_IPT,smart_Ankyrin_rpt,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_RHD,prints_NF_Rel_Dor,prints_Ankyrin_rpt - no_errors NFKB2 HGNC ENSG00000077150 63 0 0 55 40 42.1053 TMEM180 0 genome.wustl.edu 37 10 104231098 104231098 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 104231098 104231098 G A SNP TMEM180 ENST00000238936 human ensembl 74_37 +1 known missense c.773 p.R258Q 1.000 superfamily_MFS_dom_general_subst_transpt superfamily_MFS_dom_general_subst_transpt - no_errors TMEM180 HGNC ENSG00000138111 63 0 0 45 23 33.8235 CYP17A1 0 genome.wustl.edu 37 10 104597068 104597068 + Missense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 104597068 104597068 C A SNP CYP17A1 ENST00000369887 human ensembl 74_37 -1 known missense c.51 p.W17C 0.878 NULL pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP17A1 HGNC ENSG00000148795 77 0 0 58 23 28.3951 COL17A1 0 genome.wustl.edu 37 10 105797491 105797491 + Silent SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 105797491 105797491 G T SNP COL17A1 ENST00000353479 human ensembl 74_37 -1 known silent c.3111 p.P1037 0.998 NULL pfam_Collagen - no_errors COL17A1 HGNC ENSG00000065618 39 0 0 20 17 45.9459 COL17A1 0 genome.wustl.edu 37 10 105836080 105836080 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 105836080 105836080 C T SNP COL17A1 ENST00000353479 human ensembl 74_37 -1 known missense c.310 p.V104I 0.062 NULL pfam_Collagen - no_errors COL17A1 HGNC ENSG00000065618 108 0 0 107 9 7.75862 GPAM 0 genome.wustl.edu 37 10 113918098 113918098 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 113918098 113918098 C T SNP GPAM ENST00000348367 human ensembl 74_37 -1 known silent c.1956 p.Q652 1.000 NULL pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase - no_errors GPAM HGNC ENSG00000119927 134 0 0 86 6 6.52174 ACSL5 0 genome.wustl.edu 37 10 114176693 114176693 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 114176693 114176693 G A SNP ACSL5 ENST00000356116 human ensembl 74_37 +1 known silent c.1299 p.L433 0.945 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSL5 HGNC ENSG00000197142 104 0 0 47 27 36.4865 TCF7L2 0 genome.wustl.edu 37 10 114911586 114911586 + Silent SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 114911586 114911586 C A SNP TCF7L2 ENST00000355995 human ensembl 74_37 +1 known silent c.1104 p.V368 0.809 pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom pfam_CTNNB1-bd_N,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors TCF7L2 HGNC ENSG00000148737 79 0 0 33 29 46.7742 WDR37 0 genome.wustl.edu 37 10 1151106 1151106 + Silent SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 1151106 1151106 C A SNP WDR37 ENST00000263150 human ensembl 74_37 +1 known silent c.1002 p.T334 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR37 HGNC ENSG00000047056 58 0 0 31 5 13.8889 C10orf118 0 genome.wustl.edu 37 10 115887358 115887358 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 115887358 115887358 T C SNP C10orf118 ENST00000369287 human ensembl 74_37 -1 known missense c.2255 p.N752S 1.000 NULL superfamily_Prefoldin - no_errors C10orf118 HGNC ENSG00000165813 79 0 0 28 24 46.1538 FAM160B1 0 genome.wustl.edu 37 10 116605175 116605175 + Nonsense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 116605175 116605175 C T SNP FAM160B1 ENST00000369248 human ensembl 74_37 +1 known nonsense c.1063 p.R355* 1.000 pfam_RetinoicA-induced_16-like pfam_RetinoicA-induced_16-like - no_errors FAM160B1 HGNC ENSG00000151553 87 0 0 25 22 46.8085 VAX1 0 genome.wustl.edu 37 10 118896162 118896162 + Missense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 118896162 118896162 C A SNP VAX1 ENST00000369206 human ensembl 74_37 -1 known missense c.250 p.G84W 1.000 superfamily_Homeodomain-like pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif - no_errors VAX1 HGNC ENSG00000148704 62 0 0 50 24 32.4324 UPF2 0 genome.wustl.edu 37 10 11998338 11998338 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 11998338 11998338 T C SNP UPF2 ENST00000356352 human ensembl 74_37 -1 known missense c.2555 p.D852G 1.000 pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 pfam_MIF4G-like_typ-3,pfam_Up-fram_suppressor-2,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 - no_errors UPF2 HGNC ENSG00000151461 92 0 0 40 23 36.5079 MCMBP 0 genome.wustl.edu 37 10 121591083 121591083 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 121591083 121591083 G A SNP MCMBP ENST00000360003 human ensembl 74_37 -1 known missense c.1832 p.T611M 0.746 pfam_MCM_complex-bd pfam_MCM_complex-bd - no_errors MCMBP HGNC ENSG00000197771 41 0 0 19 2 9.52381 FAM24B 0 genome.wustl.edu 37 10 124608899 124608899 + Nonsense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 124608899 124608899 C T SNP FAM24B ENST00000368896 human ensembl 74_37 -1 known nonsense c.149 p.W50* 0.000 NULL NULL - no_errors FAM24B HGNC ENSG00000213185 80 0 0 42 38 47.5 HMX2 0 genome.wustl.edu 37 10 124907929 124907929 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 124907929 124907929 C T SNP HMX2 ENST00000339992 human ensembl 74_37 +1 known missense c.35 p.P12L 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HMX2 HGNC ENSG00000188816 86 0 0 92 10 9.80392 CHST15 0 genome.wustl.edu 37 10 125780849 125780849 + Nonsense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 125780849 125780849 G A SNP CHST15 ENST00000346248 human ensembl 74_37 -1 known nonsense c.1270 p.Q424* 1.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors CHST15 HGNC ENSG00000182022 55 0 0 17 13 43.3333 OAT 0 genome.wustl.edu 37 10 126090338 126090338 + Missense_Mutation SNP C C G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 126090338 126090338 C G SNP OAT ENST00000368845 human ensembl 74_37 -1 known missense c.971 p.G324A 1.000 pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase,tigrfam_Orn_aminotrans pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase,tigrfam_Orn_aminotrans - no_errors OAT HGNC ENSG00000065154 44 0 0 20 17 45.9459 C10orf137 0 genome.wustl.edu 37 10 127424224 127424224 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 127424224 127424224 C T SNP C10orf137 ENST00000356792 human ensembl 74_37 +1 known silent c.1509 p.S503 0.968 NULL NULL - no_errors C10orf137 HGNC ENSG00000107938 35 0 0 16 17 51.5152 DHX32 0 genome.wustl.edu 37 10 127541200 127541200 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 127541200 127541200 C T SNP DHX32 ENST00000284690 human ensembl 74_37 -1 known silent c.1104 p.P368 0.002 superfamily_P-loop_NTPase pfam_Helicase-assoc_dom,pfam_DUF1605,superfamily_P-loop_NTPase,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd - no_errors DHX32 HGNC ENSG00000089876 78 0 0 27 12 30.7692 FANK1 0 genome.wustl.edu 37 10 127677164 127677164 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 127677164 127677164 C T SNP FANK1 ENST00000368693 human ensembl 74_37 +1 known missense c.236 p.T79M 0.990 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Fibronectin_type3,prints_Ankyrin_rpt - no_errors FANK1 HGNC ENSG00000203780 210 0 0 98 54 35.5263 DOCK1 0 genome.wustl.edu 37 10 128841408 128841408 + Silent SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 128841408 128841408 T C SNP DOCK1 ENST00000280333 human ensembl 74_37 +1 known silent c.2118 p.F706 0.973 superfamily_ARM-type_fold pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,superfamily_Cyt_c-like_dom,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK1 HGNC ENSG00000150760 19 0 0 11 7 38.8889 CLRN3 0 genome.wustl.edu 37 10 129676597 129676597 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 129676597 129676597 G A SNP CLRN3 ENST00000368671 human ensembl 74_37 -1 known missense c.497 p.P166L 0.131 NULL NULL - no_errors CLRN3 HGNC ENSG00000180745 156 0 0 109 6 5.21739 MGMT 0 genome.wustl.edu 37 10 131334542 131334542 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 131334542 131334542 G A SNP MGMT ENST00000306010 human ensembl 74_37 +1 known missense c.119 p.R40H 0.000 pfam_MethylG_MeTrfase pfam_MethylDNA_cys_MeTrfase_DNA-bd,pfam_MethylG_MeTrfase,superfamily_MethylDNA_cys_MeTrfase_DNA-bd,tigrfam_MethylDNA_cys_MeTrfase_DNA-bd - no_errors MGMT HGNC ENSG00000170430 96 0 0 53 20 27.3973 EBF3 0 genome.wustl.edu 37 10 131665498 131665498 + Missense_Mutation SNP G G C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 131665498 131665498 G C SNP EBF3 ENST00000355311 human ensembl 74_37 -1 known missense c.946 p.P316A 1.000 pfam_IPT,superfamily_Ig_E-set,smart_IPT pfam_IPT,superfamily_Ig_E-set,smart_IPT - no_errors EBF3 HGNC ENSG00000108001 50 0 0 27 7 20.5882 JAKMIP3 0 genome.wustl.edu 37 10 133930788 133930788 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 133930788 133930788 C T SNP JAKMIP3 ENST00000298622 human ensembl 74_37 +1 known missense c.343 p.R115W 1.000 NULL NULL - no_errors JAKMIP3 HGNC ENSG00000188385 89 0 0 54 33 37.931 NKX6-2 0 genome.wustl.edu 37 10 134598811 134598811 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 134598811 134598811 C T SNP NKX6-2 ENST00000368592 human ensembl 74_37 -1 known silent c.552 p.S184 0.854 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa - no_errors NKX6-2 HGNC ENSG00000148826 23 0 0 12 15 55.5556 NKX6-2 0 genome.wustl.edu 37 10 134598905 134598905 + Missense_Mutation SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 134598905 134598905 G T SNP NKX6-2 ENST00000368592 human ensembl 74_37 -1 known missense c.458 p.P153Q 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa - no_errors NKX6-2 HGNC ENSG00000148826 16 0 0 9 13 59.0909 TTC40 0 genome.wustl.edu 37 10 134628224 134628224 + Silent SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 134628224 134628224 A G SNP TTC40 ENST00000263170 human ensembl 74_37 -1 known silent c.1698 p.P566 0.000 NULL NULL - no_errors TTC40 HGNC ENSG00000171811 30 0 0 10 14 58.3333 TTC40 0 genome.wustl.edu 37 10 134660807 134660807 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 134660807 134660807 C T SNP TTC40 ENST00000263170 human ensembl 74_37 -1 known missense c.454 p.G152S 0.000 NULL NULL - no_errors TTC40 HGNC ENSG00000171811 187 0 0 112 62 35.6322 FRMD4A 0 genome.wustl.edu 37 10 13698668 13698668 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 13698668 13698668 G A SNP FRMD4A ENST00000357447 human ensembl 74_37 -1 known missense c.2921 p.T974I 1.000 NULL pfam_DUF3338,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam - no_errors FRMD4A HGNC ENSG00000151474 27 0 0 16 3 15.7895 ADARB2 0 genome.wustl.edu 37 10 1405277 1405277 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 1405277 1405277 G A SNP ADARB2 ENST00000381312 human ensembl 74_37 -1 known silent c.1023 p.D341 1.000 pfscan_dsRNA-bd_dom pfam_A_deamin,pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,smart_A_deamin,pfscan_dsRNA-bd_dom,pfscan_A_deamin - no_errors ADARB2 HGNC ENSG00000185736 16 0 0 14 4 22.2222 FAM188A 0 genome.wustl.edu 37 10 15824188 15824188 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 15824188 15824188 T C SNP FAM188A ENST00000277632 human ensembl 74_37 -1 known missense c.1154 p.Y385C 1.000 NULL NULL - no_errors FAM188A HGNC ENSG00000148481 50 0 0 21 6 22.2222 CUBN 0 genome.wustl.edu 37 10 16932371 16932371 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 16932371 16932371 G A SNP CUBN ENST00000377833 human ensembl 74_37 -1 known silent c.8754 p.S2918 1.000 superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors CUBN HGNC ENSG00000107611 65 0 0 27 15 35.7143 SKIDA1 0 genome.wustl.edu 37 10 21805320 21805320 + Nonsense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 21805320 21805320 G A SNP SKIDA1 ENST00000449193 human ensembl 74_37 -1 known nonsense c.1432 p.Q478* 1.000 NULL pfam_Transform_Ski,superfamily_DNA-bd_dom_put - no_errors SKIDA1 HGNC ENSG00000180592 54 0 0 41 18 30.5085 DNAJC1 0 genome.wustl.edu 37 10 22048227 22048227 + Missense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 22048227 22048227 C A SNP DNAJC1 ENST00000376980 human ensembl 74_37 -1 known missense c.1468 p.A490S 0.000 pfscan_Myb-like_dom pfam_DnaJ_domain,pfam_SANT/Myb,superfamily_DnaJ_domain,superfamily_Homeodomain-like,smart_DnaJ_domain,smart_SANT/Myb,pfscan_Myb-like_dom,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJC1 HGNC ENSG00000136770 127 0 0 57 28 32.9412 ARMC3 0 genome.wustl.edu 37 10 23292307 23292307 + Silent SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 23292307 23292307 T C SNP ARMC3 ENST00000298032 human ensembl 74_37 +1 known silent c.1695 p.S565 0.912 NULL pfam_Armadillo,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors ARMC3 HGNC ENSG00000165309 174 0 0 46 27 36.9863 PTF1A 0 genome.wustl.edu 37 10 23482702 23482702 + Missense_Mutation SNP A A T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 23482702 23482702 A T SNP PTF1A ENST00000376504 human ensembl 74_37 +1 known missense c.854 p.D285V 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors PTF1A HGNC ENSG00000168267 310 0 0 166 98 37.1212 KIAA1217 0 genome.wustl.edu 37 10 24825774 24825774 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 24825774 24825774 C T SNP KIAA1217 ENST00000376454 human ensembl 74_37 +1 known silent c.3486 p.H1162 1.000 NULL pfam_AIP3_C - no_errors KIAA1217 HGNC ENSG00000120549 109 0 0 67 44 39.6396 ENKUR 0 genome.wustl.edu 37 10 25273739 25273739 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 25273739 25273739 C T SNP ENKUR ENST00000331161 human ensembl 74_37 -1 known silent c.690 p.L230 1.000 NULL NULL - no_errors ENKUR HGNC ENSG00000151023 65 0 0 25 16 39.0244 GPR158 0 genome.wustl.edu 37 10 25464593 25464593 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 25464593 25464593 G A SNP GPR158 ENST00000376351 human ensembl 74_37 +1 known missense c.244 p.V82M 1.000 NULL pfam_GPCR_3_C,pfscan_GPCR_3_C - no_errors GPR158 HGNC ENSG00000151025 81 0 0 41 15 26.7857 PTCHD3 0 genome.wustl.edu 37 10 27687378 27687378 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 27687378 27687378 T C SNP PTCHD3 ENST00000438700 human ensembl 74_37 -1 known missense c.2149 p.T717A 0.000 pfam_Patched pfam_Patched,pfscan_SSD - no_errors PTCHD3 HGNC ENSG00000182077 44 0 0 14 5 26.3158 C10orf68 0 genome.wustl.edu 37 10 33134170 33134170 + Splice_Site SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 33134170 33134170 G A SNP C10orf68 ENST00000375025 human ensembl 74_37 +1 known splice_site c.1274-1 e14-1 0.001 - - - no_errors C10orf68 HGNC ENSG00000150076 9 0 0 11 5 31.25 ITGB1 0 genome.wustl.edu 37 10 33200928 33200928 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 33200928 33200928 C T SNP ITGB1 ENST00000374956 human ensembl 74_37 -1 known missense c.1594 p.V532I 1.000 pirsf_Integrin_bsu,pfam_EGF_extracell,prints_Integrin_bsu pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_tail,pfam_Integrin_bsu_cyt_dom,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,prints_Integrin_bsu - no_errors ITGB1 HGNC ENSG00000150093 161 0 0 68 27 28.4211 PARD3 0 genome.wustl.edu 37 10 34400290 34400290 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 34400290 34400290 C T SNP PARD3 ENST00000374789 human ensembl 74_37 -1 known missense c.3878 p.R1293Q 1.000 NULL pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PARD3 HGNC ENSG00000148498 69 0 0 62 6 8.82353 FZD8 0 genome.wustl.edu 37 10 35928906 35928906 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 35928906 35928906 G A SNP FZD8 ENST00000374694 human ensembl 74_37 -1 known silent c.1452 p.F484 1.000 pfam_Frizzled,pfscan_GPCR_2-like pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD8 HGNC ENSG00000177283 36 0 0 30 16 34.7826 CCNYL2 0 genome.wustl.edu 37 10 42965637 42965637 + RNA SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 42965637 42965637 G T SNP CCNYL2 ENST00000483242 human ensembl 74_37 -1 known rna NULL NULL 0.996 - - - no_errors CCNYL2 HGNC ENSG00000182632 23 0 0 24 4 14.2857 BMS1 0 genome.wustl.edu 37 10 43325839 43325839 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 43325839 43325839 C T SNP BMS1 ENST00000374518 human ensembl 74_37 +1 known missense c.3587 p.P1196L 1.000 NULL pfam_BMS1_TSR1_C,pfam_AARP2CN,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_AARP2CN - no_errors BMS1 HGNC ENSG00000165733 77 0 0 44 30 40.5405 CSGALNACT2 0 genome.wustl.edu 37 10 43678785 43678785 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 43678785 43678785 G A SNP CSGALNACT2 ENST00000374466 human ensembl 74_37 +1 known missense c.1424 p.R475Q 1.000 pfam_Chond_GalNAc pfam_Chond_GalNAc - no_errors CSGALNACT2 HGNC ENSG00000169826 193 0 0 87 67 43.5065 RASGEF1A 0 genome.wustl.edu 37 10 43701396 43701396 + Missense_Mutation SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 43701396 43701396 G T SNP RASGEF1A ENST00000395809 human ensembl 74_37 -1 known missense c.169 p.L57I 1.000 pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGEF1A HGNC ENSG00000198915 41 0 0 24 14 36.8421 SYT15 0 genome.wustl.edu 37 10 46969272 46969272 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 46969272 46969272 C T SNP SYT15 ENST00000374321 human ensembl 74_37 -1 known silent c.189 p.P63 0.000 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors SYT15 HGNC ENSG00000204176 57 0 0 32 12 27.2727 RBP3 0 genome.wustl.edu 37 10 48388581 48388581 + Missense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 48388581 48388581 C A SNP RBP3 ENST00000224600 human ensembl 74_37 -1 known missense c.2297 p.R766L 0.026 pfam_Interphotoreceptor_retinol-bd,smart_Interphotoreceptor_retinol-bd pfam_Interphotoreceptor_retinol-bd,pfam_Interphotorcpt_retinol-bd_N,smart_Interphotoreceptor_retinol-bd - no_errors RBP3 HGNC ENSG00000107618 43 0 0 22 18 45 FRMPD2 0 genome.wustl.edu 37 10 49409381 49409381 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 49409381 49409381 G A SNP FRMPD2 ENST00000374201 human ensembl 74_37 -1 known missense c.1844 p.T615I 0.032 pfam_FERM_PH-like_C,pfscan_FERM_domain pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_PDZ,superfamily_FERM_central,superfamily_Kinase-like_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,pfscan_FERM_domain,pfscan_PDZ,prints_Band_41_fam - no_errors FRMPD2 HGNC ENSG00000170324 138 0 0 60 35 36.8421 MAPK8 0 genome.wustl.edu 37 10 49635188 49635188 + Splice_Site SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 49635188 49635188 T C SNP MAPK8 ENST00000360332 human ensembl 74_37 +1 known splice_site c.1060+2 e9+2 1.000 - - - no_errors MAPK8 HGNC ENSG00000107643 30 0 0 12 13 52 C10orf71 0 genome.wustl.edu 37 10 50530631 50530631 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 50530631 50530631 A G SNP C10orf71 ENST00000374144 human ensembl 74_37 +1 known missense c.41 p.D14G 0.993 NULL NULL - no_errors C10orf71 HGNC ENSG00000177354 23 0 0 21 9 30 ERCC6 0 genome.wustl.edu 37 10 50680508 50680508 + Missense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 50680508 50680508 C A SNP ERCC6 ENST00000355832 human ensembl 74_37 -1 known missense c.2838 p.E946D 1.000 pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ERCC6 HGNC ENSG00000225830 138 0 0 75 21 21.875 PGBD3 0 genome.wustl.edu 37 10 50723502 50723502 + Silent SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 50723502 50723502 A G SNP PGBD3 ENST00000603152 human ensembl 74_37 -1 known silent c.3063 p.H1021 0.098 NULL NULL - no_errors PGBD3 HGNC ENSG00000243251 160 0 0 64 34 34.6939 OGDHL 0 genome.wustl.edu 37 10 50947717 50947717 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 50947717 50947717 A G SNP OGDHL ENST00000374103 human ensembl 74_37 -1 known missense c.2309 p.M770T 1.000 pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 pfam_DH_E1,pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 - no_errors OGDHL HGNC ENSG00000197444 47 0 0 32 17 34.6939 OGDHL 0 genome.wustl.edu 37 10 50951942 50951942 + RNA SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 50951942 50951942 G A SNP OGDHL ENST00000496884 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors OGDHL HGNC ENSG00000197444 14 0 0 11 7 38.8889 OGDHL 0 genome.wustl.edu 37 10 50955200 50955200 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 50955200 50955200 C T SNP OGDHL ENST00000374103 human ensembl 74_37 -1 known missense c.1042 p.V348I 0.415 pfam_DH_E1,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 pfam_DH_E1,pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 - no_errors OGDHL HGNC ENSG00000197444 112 0 0 65 39 37.5 AGAP6 0 genome.wustl.edu 37 10 51769483 51769483 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 51769483 51769483 C T SNP AGAP6 ENST00000374056 human ensembl 74_37 +1 known missense c.1529 p.S510L 0.891 pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP - no_errors AGAP6 HGNC ENSG00000204149 270 0 0 120 71 37.1728 FAM21A 0 genome.wustl.edu 37 10 51851949 51851949 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 51851949 51851949 G A SNP FAM21A ENST00000282633 human ensembl 74_37 +1 known missense c.959 p.R320Q 0.000 NULL NULL - no_errors FAM21A HGNC ENSG00000099290 25 0 0 18 6 25 FAM21A 0 genome.wustl.edu 37 10 51889387 51889387 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 51889387 51889387 C T SNP FAM21A ENST00000282633 human ensembl 74_37 +1 known missense c.3296 p.A1099V 0.015 NULL NULL - no_errors FAM21A HGNC ENSG00000099290 9 0 0 3 3 50 MBL2 0 genome.wustl.edu 37 10 54527917 54527917 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 54527917 54527917 C T SNP MBL2 ENST00000373968 human ensembl 74_37 -1 known missense c.727 p.V243I 0.016 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors MBL2 HGNC ENSG00000165471 293 0 0 126 80 38.835 PCDH15 0 genome.wustl.edu 37 10 56138546 56138546 + Missense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 56138546 56138546 C A SNP PCDH15 ENST00000320301 human ensembl 74_37 -1 known missense c.314 p.R105I 1.000 smart_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 129 0 0 56 29 34.1176 ANK3 0 genome.wustl.edu 37 10 61835941 61835941 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 61835941 61835941 G A SNP ANK3 ENST00000280772 human ensembl 74_37 -1 known silent c.4698 p.D1566 0.984 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK3 HGNC ENSG00000151150 270 0 0 99 66 40 ANK3 0 genome.wustl.edu 37 10 61955986 61955986 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 61955986 61955986 G A SNP ANK3 ENST00000280772 human ensembl 74_37 -1 known silent c.1804 p.L602 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK3 HGNC ENSG00000151150 32 0 0 18 9 33.3333 ANK3 0 genome.wustl.edu 37 10 62039340 62039340 + Missense_Mutation SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 62039340 62039340 G T SNP ANK3 ENST00000280772 human ensembl 74_37 -1 known missense c.172 p.L58I 1.000 pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK3 HGNC ENSG00000151150 164 0 0 60 52 46.4286 ZNF365 0 genome.wustl.edu 37 10 64148220 64148220 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 64148220 64148220 G A SNP ZNF365 ENST00000410046 human ensembl 74_37 +1 known missense c.809 p.R270Q 1.000 NULL NULL - no_errors ZNF365 HGNC ENSG00000138311 49 0 0 33 22 40 DNA2 0 genome.wustl.edu 37 10 70178861 70178861 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 70178861 70178861 A G SNP DNA2 ENST00000399180 human ensembl 74_37 -1 known missense c.3155 p.V1052A 1.000 superfamily_P-loop_NTPase pfam_DNA_replication_fac_Dna2_N,superfamily_P-loop_NTPase - no_errors DNA2 HGNC ENSG00000138346 68 0 0 32 10 23.8095 DNA2 0 genome.wustl.edu 37 10 70196956 70196956 + Silent SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 70196956 70196956 T C SNP DNA2 ENST00000399180 human ensembl 74_37 -1 known silent c.1716 p.E572 0.000 NULL pfam_DNA_replication_fac_Dna2_N,superfamily_P-loop_NTPase - no_errors DNA2 HGNC ENSG00000138346 105 0 0 34 27 44.2623 DDX50 0 genome.wustl.edu 37 10 70706267 70706267 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 70706267 70706267 G A SNP DDX50 ENST00000373585 human ensembl 74_37 +1 known missense c.2095 p.G699S 1.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_GUCT,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX50 HGNC ENSG00000107625 93 0 0 53 36 40.4494 TYSND1 0 genome.wustl.edu 37 10 71902574 71902574 + Missense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 71902574 71902574 C A SNP TYSND1 ENST00000287078 human ensembl 74_37 -1 known missense c.1333 p.G445C 0.998 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,pirsf_Pept_S1A_Tysnd1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,pirsf_Pept_S1A_Tysnd1 - no_errors TYSND1 HGNC ENSG00000156521 52 0 0 40 16 28.5714 UNC5B 0 genome.wustl.edu 37 10 73050709 73050709 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 73050709 73050709 G A SNP UNC5B ENST00000335350 human ensembl 74_37 +1 known silent c.1137 p.G379 0.998 NULL pfam_ZU5,pfam_Ig_I-set,pfam_Death_domain,pfam_Thrombospondin_1_rpt,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom - no_errors UNC5B HGNC ENSG00000107731 285 0 0 152 113 42.6415 UNC5B 0 genome.wustl.edu 37 10 73056423 73056423 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 73056423 73056423 A G SNP UNC5B ENST00000335350 human ensembl 74_37 +1 known missense c.2414 p.E805G 1.000 NULL pfam_ZU5,pfam_Ig_I-set,pfam_Death_domain,pfam_Thrombospondin_1_rpt,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom - no_errors UNC5B HGNC ENSG00000107731 89 0 0 53 25 32.0513 CDH23 0 genome.wustl.edu 37 10 73574991 73574991 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 73574991 73574991 C T SNP CDH23 ENST00000398788 human ensembl 74_37 +1 known missense c.3301 p.R1101C 0.274 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH23 HGNC ENSG00000107736 29 0 0 39 14 26.4151 PSAP 0 genome.wustl.edu 37 10 73587902 73587902 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 73587902 73587902 C T SNP PSAP ENST00000394934 human ensembl 74_37 -1 known missense c.589 p.V197I 0.996 pirsf_Saposin_chordata,pfam_SapB_1,superfamily_Saposin-like,smart_SaposinB,prints_Saposin,pfscan_SaposinB pirsf_Saposin_chordata,pfam_SapB_1,pfam_SapB_2,pfam_SapA,superfamily_Saposin-like,smart_SapA,smart_SaposinB,prints_Saposin,pfscan_SapA,pfscan_SaposinB - no_errors PSAP HGNC ENSG00000197746 151 0 0 64 32 33.3333 NUDT13 0 genome.wustl.edu 37 10 74884892 74884892 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 74884892 74884892 G A SNP NUDT13 ENST00000357321 human ensembl 74_37 +1 known missense c.482 p.R161H 0.995 pfam_NADH_PPase-like_N,superfamily_NUDIX_hydrolase_dom-like pfam_NUDIX_hydrolase_dom,pfam_NADH_PPase-like_N,pfam_Znr_NADH_PPase,superfamily_NUDIX_hydrolase_dom-like - no_errors NUDT13 HGNC ENSG00000166321 102 0 0 59 26 30.5882 USP54 0 genome.wustl.edu 37 10 75295986 75295986 + RNA SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 75295986 75295986 G T SNP USP54 ENST00000461520 human ensembl 74_37 -1 putative rna NULL NULL 0.005 - - - no_errors USP54 HGNC ENSG00000166348 22 0 0 9 5 35.7143 AGAP5 0 genome.wustl.edu 37 10 75434595 75434595 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 75434595 75434595 G A SNP AGAP5 ENST00000374094 human ensembl 74_37 -1 known missense c.1823 p.A608V 1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP - no_errors AGAP5 HGNC ENSG00000172650 143 0 0 91 47 34.058 KAT6B 0 genome.wustl.edu 37 10 76790222 76790222 + Silent SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 76790222 76790222 A G SNP KAT6B ENST00000287239 human ensembl 74_37 +1 known silent c.5640 p.P1880 0.882 NULL pfam_MOZ_SAS,pfam_Znf_PHD-finger,pfam_Histone_H1/H5_H15,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5_H15,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors KAT6B HGNC ENSG00000156650 218 1 0.456621 116 68 36.9565 KCNMA1 0 genome.wustl.edu 37 10 78708947 78708947 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 78708947 78708947 G A SNP KCNMA1 ENST00000406533 human ensembl 74_37 -1 known missense c.2674 p.R892W 1.000 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_RCK_N,prints_K_chnl_Ca-activ_BK_asu,prints_K_chnl - no_errors KCNMA1 HGNC ENSG00000156113 161 0 0 159 15 8.62069 KCNMA1 0 genome.wustl.edu 37 10 78943226 78943226 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 78943226 78943226 G A SNP KCNMA1 ENST00000406533 human ensembl 74_37 -1 known missense c.761 p.T254M 1.000 pfam_Ion_trans_dom,prints_K_chnl pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_RCK_N,prints_K_chnl_Ca-activ_BK_asu,prints_K_chnl - no_errors KCNMA1 HGNC ENSG00000156113 52 0 0 34 23 40.3509 DLG5 0 genome.wustl.edu 37 10 79567627 79567627 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 79567627 79567627 G A SNP DLG5 ENST00000372391 human ensembl 74_37 -1 known missense c.4723 p.R1575C 0.998 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,pfam_DUF622,pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,superfamily_PDZ,superfamily_SH3_domain,superfamily_DEATH-like_dom,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_CARD,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors DLG5 HGNC ENSG00000151208 85 0 0 42 24 36.3636 SFTPD 0 genome.wustl.edu 37 10 81697823 81697823 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 81697823 81697823 C T SNP SFTPD ENST00000372292 human ensembl 74_37 -1 known missense c.913 p.V305I 0.000 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_Collagen,pfam_Surfac_D-trimer,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors SFTPD HGNC ENSG00000133661 204 0 0 92 63 40.6452 NRG3 0 genome.wustl.edu 37 10 83635495 83635495 + Silent SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 83635495 83635495 C A SNP NRG3 ENST00000404547 human ensembl 74_37 +1 known silent c.399 p.S133 0.839 NULL pfscan_EG-like_dom - no_errors NRG3 HGNC ENSG00000185737 44 0 0 49 6 10.9091 GRID1 0 genome.wustl.edu 37 10 87484202 87484202 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 87484202 87484202 C T SNP GRID1 ENST00000327946 human ensembl 74_37 -1 known missense c.1765 p.V589M 0.963 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,prints_NMDA_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRID1 HGNC ENSG00000182771 60 0 0 38 22 36.6667 LARP4B 0 genome.wustl.edu 37 10 875436 875436 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 875436 875436 C T SNP LARP4B ENST00000316157 human ensembl 74_37 -1 known silent c.1014 p.A338 0.012 NULL pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd - no_errors LARP4B HGNC ENSG00000107929 73 0 0 25 19 43.1818 WAPAL 0 genome.wustl.edu 37 10 88227089 88227089 + Nonsense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 88227089 88227089 G A SNP WAPAL ENST00000298767 human ensembl 74_37 -1 known nonsense c.2317 p.R773* 1.000 pfam_WAPL_prot,superfamily_ARM-type_fold pfam_WAPL_prot,superfamily_ARM-type_fold - no_errors WAPAL HGNC ENSG00000062650 76 0 0 27 13 32.5 MMRN2 0 genome.wustl.edu 37 10 88702972 88702972 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 88702972 88702972 G A SNP MMRN2 ENST00000372027 human ensembl 74_37 -1 known silent c.1569 p.D523 0.000 superfamily_tRNA-bd_arm pfam_C1q,pfam_EMI_domain,superfamily_Tumour_necrosis_fac-like_dom,superfamily_tRNA-bd_arm,smart_C1q,prints_C1q,pfscan_C1q,pfscan_EMI_domain - no_errors MMRN2 HGNC ENSG00000173269 47 0 0 25 29 53.7037 PTEN 0 genome.wustl.edu 37 10 89717672 89717672 + Nonsense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 89717672 89717672 C T SNP PTEN ENST00000371953 human ensembl 74_37 +1 known nonsense c.697 p.R233* 0.984 pfam_Tensin_phosphatase_C2-dom,superfamily_C2_dom,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tensin_phosphatase_C2-dom pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_dom,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors PTEN HGNC ENSG00000171862 97 0 0 48 26 35.1351 ANKRD22 0 genome.wustl.edu 37 10 90591731 90591731 + Missense_Mutation SNP A A C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 90591731 90591731 A C SNP ANKRD22 ENST00000371930 human ensembl 74_37 -1 known missense c.74 p.V25G 0.023 superfamily_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD22 HGNC ENSG00000152766 384 0 0 222 78 26 CYP26A1 0 genome.wustl.edu 37 10 94836945 94836945 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 94836945 94836945 G A SNP CYP26A1 ENST00000224356 human ensembl 74_37 +1 known missense c.1378 p.A460T 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_B - no_errors CYP26A1 HGNC ENSG00000095596 69 0 0 21 11 34.375 RBP4 0 genome.wustl.edu 37 10 95353732 95353732 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 95353732 95353732 C T SNP RBP4 ENST00000371464 human ensembl 74_37 -1 known missense c.416 p.R139H 1.000 pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,pirsf_Lipocalin_ApoD,prints_Retinol-bd/Purpurin pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,pirsf_Lipocalin_ApoD,prints_Retinol-bd/Purpurin,prints_Lipocalin - no_errors RBP4 HGNC ENSG00000138207 135 0 0 80 48 37.5 C10orf12 0 genome.wustl.edu 37 10 98742990 98742990 + Nonsense_Mutation SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 98742990 98742990 G T SNP C10orf12 ENST00000286067 human ensembl 74_37 +1 known nonsense c.1843 p.G615* 0.015 NULL NULL - no_errors C10orf12 HGNC ENSG00000155640 102 0 0 72 42 36.8421 SLIT1 0 genome.wustl.edu 37 10 98807476 98807476 + Silent SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 98807476 98807476 A G SNP SLIT1 ENST00000266058 human ensembl 74_37 -1 known silent c.1605 p.P535 0.000 pfam_LRR-contain_N,smart_LRR-contain_N pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_EG-like_dom,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT1 HGNC ENSG00000187122 131 0 0 76 19 20 RRP12 0 genome.wustl.edu 37 10 99144989 99144989 + Missense_Mutation SNP T T G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 99144989 99144989 T G SNP RRP12 ENST00000370992 human ensembl 74_37 -1 known missense c.1142 p.E381A 1.000 superfamily_ARM-type_fold pfam_Uncharacterised_NUC173,superfamily_ARM-type_fold - no_errors RRP12 HGNC ENSG00000052749 123 0 0 102 10 8.92857 GOLGA7B 0 genome.wustl.edu 37 10 99619287 99619287 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 99619287 99619287 G A SNP GOLGA7B ENST00000370602 human ensembl 74_37 +1 known missense c.85 p.D29N 1.000 pfam_Golgin_A_7/ERF4 pfam_Golgin_A_7/ERF4 - no_errors GOLGA7B HGNC ENSG00000155265 71 0 0 56 6 9.67742 GOLGA7B 0 genome.wustl.edu 37 10 99623791 99623791 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 99623791 99623791 C T SNP GOLGA7B ENST00000370602 human ensembl 74_37 +1 known silent c.243 p.C81 0.959 pfam_Golgin_A_7/ERF4 pfam_Golgin_A_7/ERF4 - no_errors GOLGA7B HGNC ENSG00000155265 69 0 0 46 26 36.1111 TRPC6 0 genome.wustl.edu 37 11 101359689 101359689 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 101359689 101359689 G A SNP TRPC6 ENST00000344327 human ensembl 74_37 -1 known silent c.1272 p.Y424 1.000 tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,prints_TRPC6_channel,prints_TRPC_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel - no_errors TRPC6 HGNC ENSG00000137672 99 0 0 61 26 29.8851 MUC6 0 genome.wustl.edu 37 11 1019287 1019287 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 1019287 1019287 T C SNP MUC6 ENST00000421673 human ensembl 74_37 -1 known missense c.4018 p.S1340G 0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors MUC6 HGNC ENSG00000184956 53 0 0 37 21 36.2069 MUC6 0 genome.wustl.edu 37 11 1020720 1020720 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 1020720 1020720 G A SNP MUC6 ENST00000421673 human ensembl 74_37 -1 known missense c.3604 p.P1202S 0.002 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors MUC6 HGNC ENSG00000184956 127 0 0 70 54 43.5484 BIRC3 0 genome.wustl.edu 37 11 102195668 102195668 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 102195668 102195668 C T SNP BIRC3 ENST00000263464 human ensembl 74_37 +1 known missense c.428 p.S143L 0.001 NULL pfam_BIR,pfam_CARD,superfamily_DEATH-like_dom,smart_BIR,smart_CARD,smart_Znf_RING,pfscan_CARD,pfscan_BIR,pfscan_Znf_RING - no_errors BIRC3 HGNC ENSG00000023445 247 0 0 96 82 46.0674 MUC6 0 genome.wustl.edu 37 11 1024088 1024088 + Missense_Mutation SNP A A T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 1024088 1024088 A T SNP MUC6 ENST00000421673 human ensembl 74_37 -1 known missense c.3241 p.Y1081N 0.999 pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors MUC6 HGNC ENSG00000184956 42 0 0 27 19 41.3043 MMP8 0 genome.wustl.edu 37 11 102585357 102585357 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 102585357 102585357 C T SNP MMP8 ENST00000236826 human ensembl 74_37 -1 known missense c.1120 p.V374I 0.387 superfamily_Hemopexin-like_dom,pirsf_Pept_M10A_Metazoans pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,pirsf_Pept_M10A_Metazoans,prints_Pept_M10A - no_errors MMP8 HGNC ENSG00000118113 62 0 0 28 11 28.2051 MUC6 0 genome.wustl.edu 37 11 1031855 1031855 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 1031855 1031855 A G SNP MUC6 ENST00000421673 human ensembl 74_37 -1 known missense c.314 p.V105A 0.005 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors MUC6 HGNC ENSG00000184956 33 0 0 20 10 33.3333 CASP5 0 genome.wustl.edu 37 11 104871014 104871014 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 104871014 104871014 A G SNP CASP5 ENST00000393141 human ensembl 74_37 -1 known missense c.965 p.V322A 1.000 pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core pfam_Pept_C14_caspase,pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta,pfscan_CARD,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core - no_errors CASP5 HGNC ENSG00000137757 150 0 0 86 10 10.4167 MUC2 0 genome.wustl.edu 37 11 1085791 1085791 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 1085791 1085791 C T SNP MUC2 ENST00000441003 human ensembl 74_37 +1 known silent c.2712 p.T904 0.151 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC2 HGNC ENSG00000198788 156 0 0 88 32 26.6667 MUC2 0 genome.wustl.edu 37 11 1087532 1087532 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 1087532 1087532 G A SNP MUC2 ENST00000441003 human ensembl 74_37 +1 known missense c.3283 p.V1095M 1.000 pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC2 HGNC ENSG00000198788 36 0 0 33 11 25 FDXACB1 0 genome.wustl.edu 37 11 111747642 111747642 + Nonsense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 111747642 111747642 C T SNP FDXACB1 ENST00000260257 human ensembl 74_37 -1 known nonsense c.423 p.W141* 1.000 pfam_DUF2431 pfam_DUF2431,pfam_PheS_beta_Fdx_antiC-bd,superfamily_PheS_beta_Fdx_antiC-bd,smart_PheS_beta_Fdx_antiC-bd - no_errors FDXACB1 HGNC ENSG00000255561 21 0 0 10 10 50 FDXACB1 0 genome.wustl.edu 37 11 111749409 111749409 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 111749409 111749409 C T SNP FDXACB1 ENST00000260257 human ensembl 74_37 -1 known missense c.200 p.C67Y 1.000 pfam_DUF2431 pfam_DUF2431,pfam_PheS_beta_Fdx_antiC-bd,superfamily_PheS_beta_Fdx_antiC-bd,smart_PheS_beta_Fdx_antiC-bd - no_errors FDXACB1 HGNC ENSG00000255561 20 0 0 12 5 29.4118 GALNT18 0 genome.wustl.edu 37 11 11314737 11314737 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 11314737 11314737 C T SNP GALNT18 ENST00000227756 human ensembl 74_37 -1 known missense c.1516 p.V506M 0.999 pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT18 HGNC ENSG00000110328 57 0 0 28 17 37.7778 ZW10 0 genome.wustl.edu 37 11 113614710 113614710 + Missense_Mutation SNP T T A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 113614710 113614710 T A SNP ZW10 ENST00000200135 human ensembl 74_37 -1 known missense c.1325 p.D442V 0.017 pfam_RZZ-complex_Zw10 pfam_RZZ-complex_Zw10 - no_errors ZW10 HGNC ENSG00000086827 99 0 0 30 13 30.2326 APOA4 0 genome.wustl.edu 37 11 116692257 116692257 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 116692257 116692257 C T SNP APOA4 ENST00000357780 human ensembl 74_37 -1 known missense c.517 p.D173N 0.001 pfam_ApoA1_A4_E pfam_ApoA1_A4_E - no_errors APOA4 HGNC ENSG00000110244 167 0 0 101 42 29.3706 APOA1 0 genome.wustl.edu 37 11 116707727 116707727 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 116707727 116707727 T C SNP APOA1 ENST00000236850 human ensembl 74_37 -1 known missense c.190 p.K64E 0.939 NULL pfam_ApoA1_A4_E - no_errors APOA1 HGNC ENSG00000118137 108 0 0 70 38 35.1852 SIK3 0 genome.wustl.edu 37 11 116968908 116968908 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 116968908 116968908 C T SNP SIK3 ENST00000375300 human ensembl 74_37 -1 known missense c.224 p.G75D 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom - no_errors SIK3 HGNC ENSG00000160584 10 0 0 23 5 17.8571 CEP164 0 genome.wustl.edu 37 11 117214899 117214899 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 117214899 117214899 C T SNP CEP164 ENST00000278935 human ensembl 74_37 +1 known missense c.100 p.R34W 0.052 NULL superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom - no_errors CEP164 HGNC ENSG00000110274 21 0 0 20 3 13.0435 DSCAML1 0 genome.wustl.edu 37 11 117309654 117309654 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 117309654 117309654 G A SNP DSCAML1 ENST00000321322 human ensembl 74_37 -1 known missense c.4370 p.S1457L 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DSCAML1 HGNC ENSG00000177103 39 0 0 18 9 33.3333 TMPRSS4 0 genome.wustl.edu 37 11 117975456 117975456 + Missense_Mutation SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 117975456 117975456 G T SNP TMPRSS4 ENST00000437212 human ensembl 74_37 +1 known missense c.361 p.G121W 0.000 superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,pfam_LDrepeatLR_classA_rpt,superfamily_Trypsin-like_Pept_dom,superfamily_Srcr_rcpt-rel,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_SRCR,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors TMPRSS4 HGNC ENSG00000137648 85 0 0 51 11 17.7419 KMT2A 0 genome.wustl.edu 37 11 118376815 118376815 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 118376815 118376815 C T SNP KMT2A ENST00000389506 human ensembl 74_37 +1 known missense c.10199 p.P3400L 0.996 pirsf_MeTrfase_trithorax pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain - no_errors KMT2A HGNC ENSG00000118058 176 0 0 94 53 36.0544 KMT2A 0 genome.wustl.edu 37 11 118392684 118392684 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 118392684 118392684 C T SNP KMT2A ENST00000389506 human ensembl 74_37 +1 known missense c.11707 p.R3903C 1.000 pfam_SET_dom,smart_SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain - no_errors KMT2A HGNC ENSG00000118058 85 0 0 37 23 38.3333 TMEM25 0 genome.wustl.edu 37 11 118403005 118403005 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 118403005 118403005 C T SNP TMEM25 ENST00000533102 human ensembl 74_37 +1 known silent c.211 p.L71 0.997 pfam_CD80_C2-set,pfscan_Ig-like_dom pfam_CD80_C2-set,pfscan_Ig-like_dom - no_errors TMEM25 HGNC ENSG00000149582 72 0 0 34 26 43.3333 NLRX1 0 genome.wustl.edu 37 11 119044487 119044487 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 119044487 119044487 C T SNP NLRX1 ENST00000292199 human ensembl 74_37 +1 known missense c.529 p.R177C 0.997 superfamily_P-loop_NTPase,pfscan_NACHT_NTPase superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase - no_errors NLRX1 HGNC ENSG00000160703 55 0 0 33 26 44.0678 OAF 0 genome.wustl.edu 37 11 120082132 120082132 + Nonsense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 120082132 120082132 C T SNP OAF ENST00000328965 human ensembl 74_37 +1 known nonsense c.145 p.Q49* 1.000 NULL NULL - no_errors OAF HGNC ENSG00000184232 11 0 0 9 10 52.6316 ARHGEF12 0 genome.wustl.edu 37 11 120350888 120350888 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 120350888 120350888 G A SNP ARHGEF12 ENST00000356641 human ensembl 74_37 +1 known missense c.3929 p.R1310Q 1.000 NULL pfam_RGS-like_dom,pfam_DH-domain,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_DH-domain,superfamily_PDZ,smart_PDZ,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF12 HGNC ENSG00000196914 161 0 0 74 46 38.3333 GRIK4 0 genome.wustl.edu 37 11 120856905 120856905 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 120856905 120856905 C T SNP GRIK4 ENST00000527524 human ensembl 74_37 +1 known missense c.2807 p.S936L 0.993 NULL pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK4 HGNC ENSG00000149403 14 0 0 7 3 30 MUC5AC 0 genome.wustl.edu 37 11 1216434 1216434 + RNA SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 1216434 1216434 T C SNP MUC5AC ENST00000358378 human ensembl 74_37 +1 putative rna NULL NULL 0.003 - - - no_errors MUC5AC HGNC ENSG00000215182 54 0 0 27 16 37.2093 GRAMD1B 0 genome.wustl.edu 37 11 123448200 123448200 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 123448200 123448200 C T SNP GRAMD1B ENST00000322282 human ensembl 74_37 +1 known missense c.149 p.S50L 1.000 NULL pfam_GRAM,smart_GRAM - no_errors GRAMD1B HGNC ENSG00000023171 13 0 0 7 3 30 GRAMD1B 0 genome.wustl.edu 37 11 123484310 123484310 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 123484310 123484310 G A SNP GRAMD1B ENST00000322282 human ensembl 74_37 +1 known missense c.1742 p.S581N 1.000 NULL pfam_GRAM,smart_GRAM - no_errors GRAMD1B HGNC ENSG00000023171 69 0 0 25 15 37.5 ZNF202 0 genome.wustl.edu 37 11 123597198 123597198 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 123597198 123597198 T C SNP ZNF202 ENST00000336139 human ensembl 74_37 -1 known missense c.1454 p.D485G 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF202 HGNC ENSG00000166261 153 0 0 56 29 34.1176 OR10G4 0 genome.wustl.edu 37 11 123886751 123886751 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 123886751 123886751 T C SNP OR10G4 ENST00000320891 human ensembl 74_37 +1 known missense c.470 p.V157A 0.016 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10G4 HGNC ENSG00000254737 210 0 0 112 76 40.4255 OR8B4 0 genome.wustl.edu 37 11 124294519 124294519 + Silent SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 124294519 124294519 A G SNP OR8B4 ENST00000356130 human ensembl 74_37 -1 known silent c.249 p.N83 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR8B4 HGNC ENSG00000198657 92 0 0 38 27 41.5385 ROBO3 0 genome.wustl.edu 37 11 124738881 124738881 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 124738881 124738881 G A SNP ROBO3 ENST00000397801 human ensembl 74_37 +1 known missense c.344 p.R115H 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors ROBO3 HGNC ENSG00000154134 15 0 0 5 7 58.3333 HEPN1 0 genome.wustl.edu 37 11 124789773 124789773 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 124789773 124789773 T C SNP HEPN1 ENST00000408930 human ensembl 74_37 +1 known missense c.127 p.S43P 0.004 NULL NULL - no_errors HEPN1 HGNC ENSG00000221932 93 0 0 30 10 25 MUC5B 0 genome.wustl.edu 37 11 1253994 1253994 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 1253994 1253994 G A SNP MUC5B ENST00000447027 human ensembl 74_37 +1 known missense c.2068 p.V690I 0.722 pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 17 0 0 9 11 55 MUC5B 0 genome.wustl.edu 37 11 1257653 1257653 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 1257653 1257653 C T SNP MUC5B ENST00000447027 human ensembl 74_37 +1 known missense c.2927 p.A976V 0.017 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 60 0 0 35 17 32.6923 SRPR 0 genome.wustl.edu 37 11 126137069 126137069 + Splice_Site SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 126137069 126137069 C T SNP SRPR ENST00000332118 human ensembl 74_37 -1 known splice_site c.526+1 e4+1 1.000 - - - no_errors SRPR HGNC ENSG00000182934 296 0 0 151 34 18.3784 MUC5B 0 genome.wustl.edu 37 11 1265147 1265147 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 1265147 1265147 C T SNP MUC5B ENST00000447027 human ensembl 74_37 +1 known missense c.7046 p.A2349V 0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 52 0 0 44 7 13.7255 MUC5B 0 genome.wustl.edu 37 11 1265962 1265962 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 1265962 1265962 G A SNP MUC5B ENST00000447027 human ensembl 74_37 +1 known missense c.7861 p.A2621T 0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 174 0 0 109 85 43.8144 ETS1 0 genome.wustl.edu 37 11 128332264 128332264 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 128332264 128332264 C T SNP ETS1 ENST00000392668 human ensembl 74_37 -1 known missense c.1450 p.D484N 0.999 pirsf_Transform_prot_C-ets pfam_Ets_dom,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets_dom,pirsf_Transform_prot_C-ets,pfscan_Ets_dom,prints_Ets_dom - no_errors ETS1 HGNC ENSG00000134954 45 0 0 20 5 20 ARHGAP32 0 genome.wustl.edu 37 11 128839759 128839759 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 128839759 128839759 G A SNP ARHGAP32 ENST00000310343 human ensembl 74_37 -1 known silent c.5307 p.V1769 0.021 NULL pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,pfam_Phox,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Phox,smart_SH3_domain,smart_RhoGAP_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors ARHGAP32 HGNC ENSG00000134909 127 0 0 83 9 9.78261 ADAMTS15 0 genome.wustl.edu 37 11 130332061 130332061 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 130332061 130332061 G A SNP ADAMTS15 ENST00000299164 human ensembl 74_37 +1 known missense c.1170 p.M390I 1.000 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS,prints_Pept_M12B_ADAM-TS8 - no_errors ADAMTS15 HGNC ENSG00000166106 115 0 0 66 32 32.6531 TOLLIP 0 genome.wustl.edu 37 11 1311503 1311503 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 1311503 1311503 G A SNP TOLLIP ENST00000317204 human ensembl 74_37 -1 known missense c.320 p.T107M 0.993 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom pfam_CUE,pfam_C2_dom,superfamily_C2_dom,superfamily_UBA-like,smart_C2_dom,smart_CUE,pfscan_CUE - no_errors TOLLIP HGNC ENSG00000078902 45 0 0 24 17 41.4634 NTM 0 genome.wustl.edu 37 11 132204993 132204993 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 132204993 132204993 G A SNP NTM ENST00000539799 human ensembl 74_37 +1 known missense c.1021 p.V341I 0.009 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors NTM HGNC ENSG00000182667 112 0 0 114 7 5.78512 GLB1L3 0 genome.wustl.edu 37 11 134147250 134147250 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 134147250 134147250 C T SNP GLB1L3 ENST00000431683 human ensembl 74_37 +1 known silent c.54 p.G18 0.011 NULL pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,prints_Glycoside_Hdrlase_35 - no_errors GLB1L3 HGNC ENSG00000166105 108 0 0 51 9 15 B3GAT1 0 genome.wustl.edu 37 11 134253759 134253759 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 134253759 134253759 C T SNP B3GAT1 ENST00000537389 human ensembl 74_37 -1 known missense c.475 p.V159M 1.000 pfam_Glyco_trans_43 pfam_Glyco_trans_43 - no_errors B3GAT1 HGNC ENSG00000109956 18 0 0 17 4 19.0476 B3GAT1 0 genome.wustl.edu 37 11 134253872 134253872 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 134253872 134253872 G A SNP B3GAT1 ENST00000537389 human ensembl 74_37 -1 known missense c.362 p.T121M 1.000 pfam_Glyco_trans_43 pfam_Glyco_trans_43 - no_errors B3GAT1 HGNC ENSG00000109956 23 0 0 25 6 19.3548 PDE3B 0 genome.wustl.edu 37 11 14666165 14666165 + Missense_Mutation SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 14666165 14666165 G T SNP PDE3B ENST00000282096 human ensembl 74_37 +1 known missense c.544 p.G182W 0.000 NULL pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom - no_errors PDE3B HGNC ENSG00000152270 14 0 0 15 4 21.0526 INSC 0 genome.wustl.edu 37 11 15260573 15260573 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 15260573 15260573 G A SNP INSC ENST00000379554 human ensembl 74_37 +1 known missense c.1487 p.R496H 0.998 superfamily_ARM-type_fold,smart_Armadillo superfamily_ARM-type_fold,smart_Armadillo - no_errors INSC HGNC ENSG00000188487 49 0 0 24 25 51.0204 PIK3C2A 0 genome.wustl.edu 37 11 17158165 17158165 + Missense_Mutation SNP T T G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 17158165 17158165 T G SNP PIK3C2A ENST00000265970 human ensembl 74_37 -1 known missense c.1712 p.H571P 1.000 NULL pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,pfam_Phox,pfam_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,superfamily_Phox,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,pfscan_C2_dom,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C2A HGNC ENSG00000011405 62 0 0 51 4 7.27273 KCNC1 0 genome.wustl.edu 37 11 17758117 17758117 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 17758117 17758117 C T SNP KCNC1 ENST00000265969 human ensembl 74_37 +1 known missense c.568 p.R190W 1.000 prints_K_chnl,prints_K_chnl_volt-dep_Kv3 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_Kv3,prints_K_chnl_volt-dep_Kv3.1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9 - no_errors KCNC1 HGNC ENSG00000129159 13 0 0 4 9 69.2308 SAAL1 0 genome.wustl.edu 37 11 18103046 18103046 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 18103046 18103046 G A SNP SAAL1 ENST00000524803 human ensembl 74_37 -1 known missense c.1244 p.T415M 0.011 NULL superfamily_ARM-type_fold - no_errors SAAL1 HGNC ENSG00000166788 95 0 0 27 22 44.898 TNNT3 0 genome.wustl.edu 37 11 1955032 1955032 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 1955032 1955032 G A SNP TNNT3 ENST00000397301 human ensembl 74_37 +1 known missense c.286 p.E96K 1.000 pfam_Troponin pfam_Troponin - no_errors TNNT3 HGNC ENSG00000130595 85 0 0 49 35 41.6667 ODF3 0 genome.wustl.edu 37 11 199980 199980 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 199980 199980 T C SNP ODF3 ENST00000325113 human ensembl 74_37 +1 known missense c.712 p.F238L 0.997 pfam_SHIPPO-rpt pfam_SHIPPO-rpt - no_errors ODF3 HGNC ENSG00000177947 54 0 0 28 34 54.8387 LUZP2 0 genome.wustl.edu 37 11 24750763 24750763 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 24750763 24750763 G A SNP LUZP2 ENST00000336930 human ensembl 74_37 +1 known silent c.111 p.E37 0.998 NULL NULL - no_errors LUZP2 HGNC ENSG00000187398 91 0 0 37 20 35.0877 PSMD13 0 genome.wustl.edu 37 11 251578 251578 + Silent SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 251578 251578 A G SNP PSMD13 ENST00000431206 human ensembl 74_37 +1 known silent c.876 p.Q292 1.000 pfam_PCI_dom,smart_PCI_dom pfam_PCI_dom,smart_PCI_dom - no_errors PSMD13 HGNC ENSG00000185627 35 0 0 25 15 37.5 MUC15 0 genome.wustl.edu 37 11 26587274 26587274 + Missense_Mutation SNP A A T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 26587274 26587274 A T SNP MUC15 ENST00000436318 human ensembl 74_37 -1 known missense c.213 p.N71K 0.000 NULL NULL - no_errors MUC15 HGNC ENSG00000169550 86 0 0 39 25 39.0625 LIN7C 0 genome.wustl.edu 37 11 27523455 27523455 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 27523455 27523455 G A SNP LIN7C ENST00000278193 human ensembl 74_37 -1 known missense c.50 p.A17V 1.000 pfam_L27_C,smart_L27,pirsf_Lin-7_homologue,pfscan_L27 pfam_PDZ,pfam_L27_C,superfamily_PDZ,smart_L27,smart_PDZ,pirsf_Lin-7_homologue,pfscan_L27,pfscan_PDZ - no_errors LIN7C HGNC ENSG00000148943 62 0 0 16 15 48.3871 BDNF 0 genome.wustl.edu 37 11 27679877 27679877 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 27679877 27679877 G A SNP BDNF ENST00000438929 human ensembl 74_37 -1 known missense c.481 p.P161S 0.999 NULL pfam_Nerve_growth_factor-rel,smart_Nerve_growth_factor-rel,pfscan_Nerve_growth_factor-rel,prints_Brain-der_neurotrophic_factor,prints_Nerve_growth_factor-rel - no_errors BDNF HGNC ENSG00000176697 155 0 0 104 12 10.3448 NLRP6 0 genome.wustl.edu 37 11 279866 279866 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 279866 279866 G A SNP NLRP6 ENST00000312165 human ensembl 74_37 +1 known missense c.343 p.V115M 0.378 NULL pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP6 HGNC ENSG00000174885 19 0 0 16 6 27.2727 CARS 0 genome.wustl.edu 37 11 3040468 3040468 + Silent SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 3040468 3040468 C A SNP CARS ENST00000380525 human ensembl 74_37 -1 known silent c.1296 p.S432 0.003 pfam_Cys-tRNA/MSH_ligase,tigrfam_Cys-tRNA-ligase pfam_Cys-tRNA/MSH_ligase,pfam_Methionyl/Leucyl_tRNA_Synth,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Glutathione-S-Trfase_C-like,prints_Cys-tRNA/MSH_ligase,tigrfam_Cys-tRNA-ligase - no_errors CARS HGNC ENSG00000110619 157 0 0 80 49 37.9845 EIF3M 0 genome.wustl.edu 37 11 32623875 32623875 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 32623875 32623875 A G SNP EIF3M ENST00000531120 human ensembl 74_37 +1 known missense c.1055 p.D352G 1.000 smart_PCI_dom pfam_PCI_dom,superfamily_ARM-type_fold,smart_PCI_dom - no_errors EIF3M HGNC ENSG00000149100 76 0 0 29 26 47.2727 QSER1 0 genome.wustl.edu 37 11 32956107 32956107 + Silent SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 32956107 32956107 A G SNP QSER1 ENST00000399302 human ensembl 74_37 +1 known silent c.2916 p.Q972 0.814 NULL NULL - no_errors QSER1 HGNC ENSG00000060749 93 0 0 56 7 11.1111 CSTF3 0 genome.wustl.edu 37 11 33108546 33108546 + Nonsense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 33108546 33108546 G A SNP CSTF3 ENST00000323959 human ensembl 74_37 -1 known nonsense c.1783 p.R595* 1.000 pfam_Suf pfam_Suf,smart_HAT - no_errors CSTF3 HGNC ENSG00000176102 303 0 0 126 73 36.6834 KIAA1549L 0 genome.wustl.edu 37 11 33640107 33640107 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 33640107 33640107 A G SNP KIAA1549L ENST00000389726 human ensembl 74_37 +1 known missense c.4435 p.S1479G 1.000 NULL NULL - no_errors KIAA1549L HGNC ENSG00000110427 23 0 0 16 6 27.2727 CAT 0 genome.wustl.edu 37 11 34493032 34493032 + RNA SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 34493032 34493032 C T SNP CAT ENST00000534710 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors CAT HGNC ENSG00000121691 35 0 0 22 12 35.2941 CHRNA10 0 genome.wustl.edu 37 11 3691097 3691097 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 3691097 3691097 T C SNP CHRNA10 ENST00000250699 human ensembl 74_37 -1 known missense c.136 p.R46G 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNA10 HGNC ENSG00000129749 137 0 0 97 7 6.73077 NUP98 0 genome.wustl.edu 37 11 3744675 3744675 + Missense_Mutation SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 3744675 3744675 G T SNP NUP98 ENST00000324932 human ensembl 74_37 -1 known missense c.1858 p.L620I 0.996 NULL pfam_Nup96,pfam_Peptidase_S59,superfamily_Peptidase_S59 - no_errors NUP98 HGNC ENSG00000110713 37 0 0 17 11 39.2857 PGAP2 0 genome.wustl.edu 37 11 3838582 3838582 + Splice_Site SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 3838582 3838582 G T SNP PGAP2 ENST00000278243 human ensembl 74_37 +1 known splice_site c.166-1 e2-1 0.932 - - - no_errors PGAP2 HGNC ENSG00000148985 118 0 0 57 36 38.7097 PGAP2 0 genome.wustl.edu 37 11 3846609 3846609 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 3846609 3846609 C T SNP PGAP2 ENST00000278243 human ensembl 74_37 +1 known missense c.869 p.A290V 1.000 pfam_Frag1/DRAM/Sfk1 pfam_Frag1/DRAM/Sfk1 - no_errors PGAP2 HGNC ENSG00000148985 52 0 0 22 12 35.2941 TTC17 0 genome.wustl.edu 37 11 43428962 43428962 + Silent SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 43428962 43428962 A G SNP TTC17 ENST00000039989 human ensembl 74_37 +1 known silent c.1899 p.G633 1.000 smart_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC17 HGNC ENSG00000052841 47 0 0 14 11 44 HSD17B12 0 genome.wustl.edu 37 11 43876274 43876274 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 43876274 43876274 C T SNP HSD17B12 ENST00000278353 human ensembl 74_37 +1 known missense c.694 p.P232S 1.000 prints_Glc/ribitol_DH pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors HSD17B12 HGNC ENSG00000149084 154 0 0 87 42 32.5581 OR52K2 0 genome.wustl.edu 37 11 4471034 4471034 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 4471034 4471034 G A SNP OR52K2 ENST00000325719 human ensembl 74_37 +1 known silent c.465 p.V155 0.985 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52K2 HGNC ENSG00000181963 110 0 0 87 7 7.44681 SLC35C1 0 genome.wustl.edu 37 11 45832837 45832837 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 45832837 45832837 C T SNP SLC35C1 ENST00000314134 human ensembl 74_37 +1 known missense c.1046 p.P349L 1.000 NULL pfam_Tpt_PEP_trans_dom,pfam_UAA,pfam_DMT - no_errors SLC35C1 HGNC ENSG00000181830 29 0 0 14 9 39.1304 CRY2 0 genome.wustl.edu 37 11 45891725 45891725 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 45891725 45891725 G A SNP CRY2 ENST00000443527 human ensembl 74_37 +1 known missense c.1379 p.R460H 1.000 pfam_Photolyase_FAD-bd/Cryptochr_C,superfamily_Photolyase_FAD-bd/Cryptochr_C pfam_Photolyase_FAD-bd/Cryptochr_C,pfam_DNA_photolyase_N,superfamily_Photolyase_FAD-bd/Cryptochr_C,superfamily_DNA_photolyase_N - no_errors CRY2 HGNC ENSG00000121671 96 0 0 48 35 42.1687 AMBRA1 0 genome.wustl.edu 37 11 46567255 46567255 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 46567255 46567255 C T SNP AMBRA1 ENST00000458649 human ensembl 74_37 -1 known silent c.450 p.Q150 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors AMBRA1 HGNC ENSG00000110497 79 0 0 54 26 32.5 ARFGAP2 0 genome.wustl.edu 37 11 47196629 47196629 + Silent SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 47196629 47196629 A G SNP ARFGAP2 ENST00000524782 human ensembl 74_37 -1 known silent c.417 p.S139 0.078 NULL pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP - no_errors ARFGAP2 HGNC ENSG00000149182 396 0 0 202 97 32.4415 MADD 0 genome.wustl.edu 37 11 47317472 47317472 + Missense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 47317472 47317472 C A SNP MADD ENST00000311027 human ensembl 74_37 +1 known missense c.3625 p.L1209I 0.993 NULL pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors MADD HGNC ENSG00000110514 140 1 0.70922 101 26 20.4724 PTPMT1 0 genome.wustl.edu 37 11 47593160 47593160 + Silent SNP T T G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 47593160 47593160 T G SNP PTPMT1 ENST00000326674 human ensembl 74_37 +1 novel silent c.585 p.T195 0.001 NULL pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase - no_errors PTPMT1 HGNC ENSG00000110536 171 0 0 86 35 28.9256 MTCH2 0 genome.wustl.edu 37 11 47664026 47664026 + RNA SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 47664026 47664026 C A SNP MTCH2 ENST00000533571 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors MTCH2 HGNC ENSG00000109919 12 0 0 11 6 35.2941 FNBP4 0 genome.wustl.edu 37 11 47776158 47776158 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 47776158 47776158 G A SNP FNBP4 ENST00000263773 human ensembl 74_37 -1 known silent c.372 p.S124 0.063 NULL pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom - no_errors FNBP4 HGNC ENSG00000109920 105 0 0 74 26 26 PTPRJ 0 genome.wustl.edu 37 11 48188902 48188902 + Silent SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 48188902 48188902 T C SNP PTPRJ ENST00000418331 human ensembl 74_37 +1 known silent c.4002 p.G1334 1.000 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRJ HGNC ENSG00000149177 73 0 0 46 26 36.1111 OR4C12 0 genome.wustl.edu 37 11 50003277 50003277 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 50003277 50003277 A G SNP OR4C12 ENST00000335238 human ensembl 74_37 -1 known missense c.761 p.F254S 0.775 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR4C12 HGNC ENSG00000221954 58 0 0 45 5 10 OR51M1 0 genome.wustl.edu 37 11 5411436 5411436 + Missense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 5411436 5411436 C A SNP OR51M1 ENST00000328611 human ensembl 74_37 +1 known missense c.808 p.L270M 0.093 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51M1 HGNC ENSG00000184698 72 0 0 40 10 20 TRIM48 0 genome.wustl.edu 37 11 55035844 55035844 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 55035844 55035844 T C SNP TRIM48 ENST00000417545 human ensembl 74_37 +1 known missense c.574 p.Y192H 0.183 NULL pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM48 HGNC ENSG00000150244 87 0 0 56 14 20 UBQLNL 0 genome.wustl.edu 37 11 5537100 5537100 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 5537100 5537100 A G SNP UBQLNL ENST00000380184 human ensembl 74_37 -1 putative missense c.572 p.M191T 0.959 NULL pfam_Ubiquitin_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup - no_errors UBQLNL HGNC ENSG00000175518 185 0 0 65 27 29.3478 OR5D14 0 genome.wustl.edu 37 11 55563737 55563737 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 55563737 55563737 C T SNP OR5D14 ENST00000335605 human ensembl 74_37 +1 known missense c.706 p.R236C 0.004 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5D14 HGNC ENSG00000186113 124 0 0 71 43 37.7193 OR5AS1 0 genome.wustl.edu 37 11 55798109 55798109 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 55798109 55798109 G A SNP OR5AS1 ENST00000313555 human ensembl 74_37 +1 known missense c.215 p.S72N 0.016 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 OR5AS1 HGNC ENSG00000181785 70 0 0 17 12 41.3793 OR8J3 0 genome.wustl.edu 37 11 55905191 55905191 + Missense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 55905191 55905191 C A SNP OR8J3 ENST00000301529 human ensembl 74_37 -1 known missense c.4 p.A2S 0.141 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8J3 HGNC ENSG00000167822 100 0 0 72 35 32.7103 OR8H1 0 genome.wustl.edu 37 11 56057608 56057608 + Silent SNP T T G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 56057608 56057608 T G SNP OR8H1 ENST00000313022 human ensembl 74_37 -1 known silent c.931 p.R311 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8H1 HGNC ENSG00000181693 141 0 0 66 13 16.4557 OR8H1 0 genome.wustl.edu 37 11 56057978 56057978 + Silent SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 56057978 56057978 G T SNP OR8H1 ENST00000313022 human ensembl 74_37 -1 known silent c.561 p.S187 0.001 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8H1 HGNC ENSG00000181693 116 0 0 40 31 43.662 OR8J1 0 genome.wustl.edu 37 11 56128498 56128498 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 56128498 56128498 A G SNP OR8J1 ENST00000303039 human ensembl 74_37 +1 known missense c.776 p.Y259C 0.416 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8J1 HGNC ENSG00000172487 143 0 0 92 5 5.15464 OR5M8 0 genome.wustl.edu 37 11 56258674 56258674 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 56258674 56258674 A G SNP OR5M8 ENST00000327216 human ensembl 74_37 -1 known missense c.173 p.M58T 1.000 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 OR5M8 HGNC ENSG00000181371 132 0 0 78 53 40.458 PRG3 0 genome.wustl.edu 37 11 57147109 57147109 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 57147109 57147109 G A SNP PRG3 ENST00000287143 human ensembl 74_37 -1 known missense c.233 p.A78V 0.001 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_Eosinophil_major_basic - no_errors PRG3 HGNC ENSG00000156575 134 0 0 63 32 33.6842 RTN4RL2 0 genome.wustl.edu 37 11 57235267 57235267 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 57235267 57235267 C T SNP RTN4RL2 ENST00000335099 human ensembl 74_37 +1 known missense c.217 p.R73C 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors RTN4RL2 HGNC ENSG00000186907 164 0 0 190 17 8.21256 FAM111B 0 genome.wustl.edu 37 11 58892109 58892109 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 58892109 58892109 A G SNP FAM111B ENST00000343597 human ensembl 74_37 +1 known missense c.539 p.N180S 0.000 NULL superfamily_Trypsin-like_Pept_dom - no_errors FAM111B HGNC ENSG00000189057 95 0 0 26 26 50 FAM111A 0 genome.wustl.edu 37 11 58919526 58919526 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 58919526 58919526 C T SNP FAM111A ENST00000361723 human ensembl 74_37 +1 known missense c.385 p.R129C 0.000 NULL pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom - no_errors FAM111A HGNC ENSG00000166801 97 0 0 46 24 34.2857 OSBP 0 genome.wustl.edu 37 11 59361175 59361175 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 59361175 59361175 G A SNP OSBP ENST00000263847 human ensembl 74_37 -1 known missense c.1580 p.A527V 1.000 pfam_Oxysterol-bd pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBP HGNC ENSG00000110048 105 0 0 70 4 5.40541 MS4A14 0 genome.wustl.edu 37 11 60183217 60183217 + Missense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 60183217 60183217 C A SNP MS4A14 ENST00000300187 human ensembl 74_37 +1 known missense c.776 p.P259H 0.001 NULL pfam_CD20-like - no_errors MS4A14 HGNC ENSG00000166928 102 0 0 62 5 7.46269 PRPF19 0 genome.wustl.edu 37 11 60670961 60670961 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 60670961 60670961 C T SNP PRPF19 ENST00000227524 human ensembl 74_37 -1 known silent c.216 p.P72 0.476 pfam_Pre-mRNA_splic_Prp19 pfam_WD40_repeat,pfam_Pre-mRNA_splic_Prp19,pfam_Ubox_domain,superfamily_WD40_repeat_dom,smart_Ubox_domain,smart_WD40_repeat,pfscan_Ricin_B_lectin,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors PRPF19 HGNC ENSG00000110107 36 0 0 17 10 37.037 PHRF1 0 genome.wustl.edu 37 11 607923 607923 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 607923 607923 A G SNP PHRF1 ENST00000264555 human ensembl 74_37 +1 known missense c.2467 p.K823E 0.983 NULL pfam_Znf_PHD-finger,pfam_Znf_C3HC4_RING-type,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors PHRF1 HGNC ENSG00000070047 153 0 0 76 28 26.9231 VWCE 0 genome.wustl.edu 37 11 61048617 61048617 + Missense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 61048617 61048617 C A SNP VWCE ENST00000335613 human ensembl 74_37 -1 known missense c.878 p.R293L 0.994 NULL pfam_VWF_C,pfam_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_VWF_C,smart_VWC_out,pfscan_EG-like_dom,pfscan_VWF_C - no_errors VWCE HGNC ENSG00000167992 63 0 0 50 30 37.5 DDB1 0 genome.wustl.edu 37 11 61070548 61070548 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 61070548 61070548 G A SNP DDB1 ENST00000301764 human ensembl 74_37 -1 known missense c.2912 p.A971V 1.000 pfam_Cleavage/polyA-sp_fac_asu_C pfam_Cleavage/polyA-sp_fac_asu_C - no_errors DDB1 HGNC ENSG00000167986 151 0 0 77 43 35.8333 TMEM138 0 genome.wustl.edu 37 11 61133581 61133581 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 61133581 61133581 G A SNP TMEM138 ENST00000278826 human ensembl 74_37 +1 known missense c.193 p.V65I 1.000 NULL NULL - no_errors TMEM138 HGNC ENSG00000149483 169 0 0 67 38 36.1905 FTH1 0 genome.wustl.edu 37 11 61727260 61727260 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 61727260 61727260 C T SNP FTH1 ENST00000529191 human ensembl 74_37 -1 putative missense c.254 p.S85N 0.526 NULL superfamily_Ferritin-like_SF - no_errors FTH1 HGNC ENSG00000167996 14 0 0 1 4 80 INCENP 0 genome.wustl.edu 37 11 61908981 61908981 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 61908981 61908981 G A SNP INCENP ENST00000394818 human ensembl 74_37 +1 known missense c.1603 p.V535I 0.995 NULL pfam_INCENP_N,pfam_Inner_centromere_prot_ARK-bd - no_errors INCENP HGNC ENSG00000149503 228 0 0 236 18 7.08661 AHNAK 0 genome.wustl.edu 37 11 62298496 62298496 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 62298496 62298496 C T SNP AHNAK ENST00000378024 human ensembl 74_37 -1 known missense c.3393 p.M1131I 1.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC ENSG00000124942 244 0 0 115 40 25.8065 TUT1 0 genome.wustl.edu 37 11 62348927 62348927 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 62348927 62348927 C T SNP TUT1 ENST00000308436 human ensembl 74_37 -1 known missense c.634 p.E212K 0.996 NULL pfam_PAP_assoc,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors TUT1 HGNC ENSG00000149016 63 0 0 28 23 45.098 INTS5 0 genome.wustl.edu 37 11 62415761 62415761 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 62415761 62415761 C T SNP INTS5 ENST00000330574 human ensembl 74_37 -1 known silent c.1791 p.A597 0.925 NULL NULL - no_errors INTS5 HGNC ENSG00000185085 64 0 0 46 24 34.2857 UBXN1 0 genome.wustl.edu 37 11 62445429 62445429 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 62445429 62445429 C T SNP UBXN1 ENST00000294119 human ensembl 74_37 -1 known missense c.452 p.R151Q 1.000 NULL pfam_UBX,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,smart_UBX,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_UBX - no_errors UBXN1 HGNC ENSG00000162191 79 0 0 34 18 34.6154 FAM160A2 0 genome.wustl.edu 37 11 6245178 6245178 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 6245178 6245178 G A SNP FAM160A2 ENST00000265978 human ensembl 74_37 -1 known missense c.439 p.R147W 1.000 pfam_RetinoicA-induced_16-like pfam_RetinoicA-induced_16-like - no_errors FAM160A2 HGNC ENSG00000051009 131 0 0 47 38 44.7059 LRRN4CL 0 genome.wustl.edu 37 11 62455850 62455850 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 62455850 62455850 G A SNP LRRN4CL ENST00000317449 human ensembl 74_37 -1 known missense c.131 p.P44L 0.000 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors LRRN4CL HGNC ENSG00000177363 38 0 0 21 13 38.2353 SLC3A2 0 genome.wustl.edu 37 11 62656124 62656124 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 62656124 62656124 C T SNP SLC3A2 ENST00000377892 human ensembl 74_37 +1 known missense c.1945 p.P649S 0.581 NULL pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom - no_errors SLC3A2 HGNC ENSG00000168003 77 0 0 63 28 30.7692 PRKCDBP 0 genome.wustl.edu 37 11 6340490 6340490 + Missense_Mutation SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 6340490 6340490 G T SNP PRKCDBP ENST00000303927 human ensembl 74_37 -1 known missense c.689 p.P230H 0.009 NULL NULL - no_errors PRKCDBP HGNC ENSG00000170955 176 0 0 63 71 52.9851 MARK2 0 genome.wustl.edu 37 11 63670157 63670157 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 63670157 63670157 A G SNP MARK2 ENST00000402010 human ensembl 74_37 +1 known missense c.1319 p.D440G 0.990 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_KA1_dom,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MARK2 HGNC ENSG00000072518 59 0 0 29 18 38.2979 OTUB1 0 genome.wustl.edu 37 11 63764119 63764119 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 63764119 63764119 C T SNP OTUB1 ENST00000422031 human ensembl 74_37 +1 known missense c.448 p.R150W 1.000 pfam_Peptidase_C65_otubain,pfam_OTU,pirsf_Ubiquitin_thioesterase_Otubain,pfscan_OTU pfam_Peptidase_C65_otubain,pfam_OTU,pirsf_Ubiquitin_thioesterase_Otubain,pfscan_OTU - no_errors OTUB1 HGNC ENSG00000167770 54 0 0 33 22 40 PPP1R14B 0 genome.wustl.edu 37 11 64014017 64014017 + Silent SNP C C G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 64014017 64014017 C G SNP PPP1R14B ENST00000309318 human ensembl 74_37 -1 known silent c.129 p.G43 0.000 superfamily_PP1_inhibitor pfam_PP1_inhibitor,superfamily_PP1_inhibitor - no_errors PPP1R14B HGNC ENSG00000173457 24 0 0 20 8 28.5714 GPR137 0 genome.wustl.edu 37 11 64056562 64056562 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 64056562 64056562 C T SNP GPR137 ENST00000438980 human ensembl 74_37 +1 known missense c.1085 p.P362L 0.937 NULL NULL - no_errors GPR137 HGNC ENSG00000173264 46 0 0 23 19 45.2381 PRDX5 0 genome.wustl.edu 37 11 64088505 64088505 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 64088505 64088505 G A SNP PRDX5 ENST00000265462 human ensembl 74_37 +1 known silent c.504 p.S168 0.000 pfam_Redoxin,pfam_AhpC/TSA,superfamily_Thioredoxin-like_fold pfam_Redoxin,pfam_AhpC/TSA,superfamily_Thioredoxin-like_fold - no_errors PRDX5 HGNC ENSG00000126432 188 0 0 82 55 40.146 CCDC88B 0 genome.wustl.edu 37 11 64120317 64120317 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 64120317 64120317 G A SNP CCDC88B ENST00000356786 human ensembl 74_37 +1 known missense c.3458 p.G1153D 0.999 NULL pfam_Hook-related_fam - no_errors CCDC88B HGNC ENSG00000168071 26 0 0 23 7 23.3333 CCDC88B 0 genome.wustl.edu 37 11 64121481 64121481 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 64121481 64121481 G A SNP CCDC88B ENST00000356786 human ensembl 74_37 +1 known missense c.3938 p.G1313D 1.000 NULL pfam_Hook-related_fam - no_errors CCDC88B HGNC ENSG00000168071 44 0 0 26 16 38.0952 RPS6KA4 0 genome.wustl.edu 37 11 64135729 64135729 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 64135729 64135729 G A SNP RPS6KA4 ENST00000334205 human ensembl 74_37 +1 known missense c.1197 p.M399I 1.000 superfamily_Kinase-like_dom,pirsf_Ribosomal_S6_kinase_II pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom - no_errors RPS6KA4 HGNC ENSG00000162302 37 0 0 44 4 8.33333 NRXN2 0 genome.wustl.edu 37 11 64374787 64374787 + Nonsense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 64374787 64374787 G A SNP NRXN2 ENST00000265459 human ensembl 74_37 -1 known nonsense c.5020 p.R1674* 1.000 smart_Neurexin-like pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN2 HGNC ENSG00000110076 52 0 0 34 21 38.1818 PYGM 0 genome.wustl.edu 37 11 64521114 64521114 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 64521114 64521114 C T SNP PYGM ENST00000164139 human ensembl 74_37 -1 known missense c.1280 p.R427Q 1.000 pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas - no_errors PYGM HGNC ENSG00000068976 15 0 0 24 4 14.2857 CDC42BPG 0 genome.wustl.edu 37 11 64597244 64597244 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 64597244 64597244 C T SNP CDC42BPG ENST00000342711 human ensembl 74_37 -1 known silent c.3666 p.L1222 0.950 pfam_Citron,smart_Citron pfam_Prot_kinase_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pfscan_CRIB_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors CDC42BPG HGNC ENSG00000171219 14 0 0 12 11 47.8261 VPS51 0 genome.wustl.edu 37 11 64878874 64878874 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 64878874 64878874 C T SNP VPS51 ENST00000279281 human ensembl 74_37 +1 known missense c.2164 p.R722C 1.000 NULL pfam_COG8,pfam_Vacuolar_sorting-assoc_54,pfam_COG_su2_N,pfam_RZZ-complex_Zw10,superfamily_Cullin_repeat-like_dom - no_errors VPS51 HGNC ENSG00000149823 65 0 0 31 31 50 SYVN1 0 genome.wustl.edu 37 11 64900466 64900466 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 64900466 64900466 C T SNP SYVN1 ENST00000377190 human ensembl 74_37 -1 known missense c.305 p.R102H 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors SYVN1 HGNC ENSG00000162298 51 0 0 40 31 43.662 CAPN1 0 genome.wustl.edu 37 11 64977871 64977871 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 64977871 64977871 G A SNP CAPN1 ENST00000279247 human ensembl 74_37 +1 known silent c.2007 p.A669 0.950 NULL pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_hand_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN1 HGNC ENSG00000014216 31 0 0 18 12 40 SLC22A20 0 genome.wustl.edu 37 11 64981838 64981838 + RNA SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 64981838 64981838 G A SNP SLC22A20 ENST00000525264 human ensembl 74_37 +1 known rna NULL NULL 0.968 - - - no_errors SLC22A20 HGNC ENSG00000197847 44 0 0 27 10 27.027 FRMD8 0 genome.wustl.edu 37 11 65178811 65178811 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 65178811 65178811 G A SNP FRMD8 ENST00000317568 human ensembl 74_37 +1 known missense c.1375 p.D459N 0.369 NULL pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain - no_errors FRMD8 HGNC ENSG00000126391 14 0 0 11 12 52.1739 LTBP3 0 genome.wustl.edu 37 11 65315489 65315489 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 65315489 65315489 T C SNP LTBP3 ENST00000301873 human ensembl 74_37 -1 known missense c.1748 p.N583S 1.000 smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors LTBP3 HGNC ENSG00000168056 83 0 0 54 37 40.6593 PCNXL3 0 genome.wustl.edu 37 11 65387251 65387251 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 65387251 65387251 G A SNP PCNXL3 ENST00000355703 human ensembl 74_37 +1 known missense c.1856 p.R619Q 0.996 NULL pfam_Pecanex - no_errors PCNXL3 HGNC ENSG00000197136 8 0 0 7 4 36.3636 SIPA1 0 genome.wustl.edu 37 11 65414977 65414977 + Missense_Mutation SNP G G C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 65414977 65414977 G C SNP SIPA1 ENST00000394224 human ensembl 74_37 +1 known missense c.2154 p.E718D 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1 HGNC ENSG00000213445 12 0 0 11 4 26.6667 RELA 0 genome.wustl.edu 37 11 65429435 65429435 + Silent SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 65429435 65429435 A G SNP RELA ENST00000406246 human ensembl 74_37 -1 known silent c.159 p.D53 0.891 pfam_RHD,superfamily_p53-like_TF_DNA-bd,pfscan_RHD pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NF_Rel_Dor - no_errors RELA HGNC ENSG00000173039 42 0 0 26 19 42.2222 MUS81 0 genome.wustl.edu 37 11 65631120 65631120 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 65631120 65631120 A G SNP MUS81 ENST00000308110 human ensembl 74_37 +1 known missense c.889 p.T297A 0.000 pfam_ERCC4_domain,superfamily_Restrct_endonuc-II-like,smart_ERCC4_domain pfam_ERCC4_domain,superfamily_Restrct_endonuc-II-like,superfamily_DNA_pol_b-like_N,smart_ERCC4_domain - no_errors MUS81 HGNC ENSG00000172732 49 0 0 23 21 47.7273 FIBP 0 genome.wustl.edu 37 11 65651477 65651477 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 65651477 65651477 G A SNP FIBP ENST00000338369 human ensembl 74_37 -1 known missense c.1063 p.R355C 1.000 pfam_FIBP pfam_FIBP - no_errors FIBP HGNC ENSG00000172500 36 0 0 24 6 20 GAL3ST3 0 genome.wustl.edu 37 11 65810429 65810429 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 65810429 65810429 G A SNP GAL3ST3 ENST00000312006 human ensembl 74_37 -1 known missense c.845 p.A282V 0.881 pfam_Gal-3-0_sulfotransfrase pfam_Gal-3-0_sulfotransfrase,superfamily_P-loop_NTPase - no_errors GAL3ST3 HGNC ENSG00000175229 8 0 0 4 6 60 RIN1 0 genome.wustl.edu 37 11 66102301 66102301 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 66102301 66102301 C T SNP RIN1 ENST00000311320 human ensembl 74_37 -1 known silent c.969 p.E323 1.000 NULL pfam_VPS9,pfam_Ras-assoc,smart_SH2,smart_VPS9_subgr,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SH2,pfscan_VPS9 - no_errors RIN1 HGNC ENSG00000174791 8 0 0 5 3 37.5 DPP3 0 genome.wustl.edu 37 11 66260252 66260252 + Nonsense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 66260252 66260252 C T SNP DPP3 ENST00000360510 human ensembl 74_37 +1 known nonsense c.1054 p.Q352* 1.000 pirsf_Dipeptidyl-peptase3 pirsf_Dipeptidyl-peptase3 - no_errors DPP3 HGNC ENSG00000254986 139 0 0 94 67 41.6149 ILK 0 genome.wustl.edu 37 11 6632036 6632036 + RNA SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 6632036 6632036 C T SNP ILK ENST00000526318 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors ILK HGNC ENSG00000166333 17 0 0 9 7 43.75 SPTBN2 0 genome.wustl.edu 37 11 66460053 66460053 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 66460053 66460053 A G SNP SPTBN2 ENST00000309996 human ensembl 74_37 -1 known missense c.5144 p.V1715A 1.000 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN2 HGNC ENSG00000173898 71 0 0 53 27 33.75 DCHS1 0 genome.wustl.edu 37 11 6648096 6648096 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 6648096 6648096 C T SNP DCHS1 ENST00000299441 human ensembl 74_37 -1 known silent c.6174 p.L2058 0.180 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS1 HGNC ENSG00000166341 40 0 0 30 24 44.4444 PC 0 genome.wustl.edu 37 11 66617168 66617168 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 66617168 66617168 T C SNP PC ENST00000393958 human ensembl 74_37 -1 known missense c.3061 p.K1021E 1.000 pfam_Carboxylase_cons_dom,pirsf_Pyruv_COase,tigrfam_Pyruv_COase pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_Carboxylase_cons_dom,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_PYR_CT,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pirsf_Pyruv_COase,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_PYR_CT,pfscan_Biotin_lipoyl,tigrfam_Pyruv_COase - no_errors PC HGNC ENSG00000173599 74 0 0 49 22 30.9859 KDM2A 0 genome.wustl.edu 37 11 67018208 67018208 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 67018208 67018208 C T SNP KDM2A ENST00000529006 human ensembl 74_37 +1 known missense c.2707 p.R903C 1.000 pfam_F-box_dom pfam_Znf_CXXC,pfam_F-box_dom,pfam_JmjC_dom,superfamily_Znf_FYVE_PHD,smart_JmjC_dom,smart_Znf_PHD,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors KDM2A HGNC ENSG00000173120 156 0 0 131 13 9.02778 KDM2A 0 genome.wustl.edu 37 11 67022389 67022389 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 67022389 67022389 A G SNP KDM2A ENST00000529006 human ensembl 74_37 +1 known missense c.3352 p.I1118V 1.000 smart_Leu-rich_rpt_Cys-con_subtyp pfam_Znf_CXXC,pfam_F-box_dom,pfam_JmjC_dom,superfamily_Znf_FYVE_PHD,smart_JmjC_dom,smart_Znf_PHD,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors KDM2A HGNC ENSG00000173120 36 0 0 21 15 41.6667 SSH3 0 genome.wustl.edu 37 11 67077245 67077245 + Missense_Mutation SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 67077245 67077245 G T SNP SSH3 ENST00000308127 human ensembl 74_37 +1 known missense c.1215 p.Q405H 0.992 pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors SSH3 HGNC ENSG00000172830 80 0 0 81 8 8.98876 TBC1D10C 0 genome.wustl.edu 37 11 67172910 67172910 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 67172910 67172910 G A SNP TBC1D10C ENST00000312390 human ensembl 74_37 +1 known missense c.293 p.R98H 0.998 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D10C HGNC ENSG00000175463 35 0 0 27 6 18.1818 TMEM134 0 genome.wustl.edu 37 11 67232302 67232302 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 67232302 67232302 C T SNP TMEM134 ENST00000393877 human ensembl 74_37 -1 known silent c.432 p.V144 1.000 pfam_DUF872_TM pfam_DUF872_TM - no_errors TMEM134 HGNC ENSG00000172663 29 0 0 12 8 40 NDUFV1 0 genome.wustl.edu 37 11 67376963 67376963 + Missense_Mutation SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 67376963 67376963 G T SNP NDUFV1 ENST00000322776 human ensembl 74_37 +1 known missense c.367 p.G123C 0.996 pfam_NADH_UbQ_OxRdtase_51kDa_su,tigrfam_NADH-UbQ_OxRdtase_suF pfam_NADH_UbQ_OxRdtase_51kDa_su,pfam_NADH-UbQ_OxRdtase_Fsu_4Fe4S-bd,pfam_Soluble_ligand-bd,smart_NADH-UbQ_OxRdtase_Fsu_4Fe4S-bd,tigrfam_NADH-UbQ_OxRdtase_suF - no_errors NDUFV1 HGNC ENSG00000167792 147 0 0 105 6 5.40541 LRP5 0 genome.wustl.edu 37 11 68115579 68115579 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 68115579 68115579 G A SNP LRP5 ENST00000294304 human ensembl 74_37 +1 known missense c.356 p.G119D 1.000 pirsf_Low_density_Lipo_rcpt-rel_p5/6,smart_LDLR_classB_rpt pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP5 HGNC ENSG00000162337 187 1 0.531915 106 76 41.7582 LRP5 0 genome.wustl.edu 37 11 68177424 68177424 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 68177424 68177424 G A SNP LRP5 ENST00000294304 human ensembl 74_37 +1 known missense c.2134 p.V712M 1.000 pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP5 HGNC ENSG00000162337 83 0 0 46 42 47.7273 LRP5 0 genome.wustl.edu 37 11 68192762 68192762 + Splice_Site SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 68192762 68192762 T C SNP LRP5 ENST00000294304 human ensembl 74_37 +1 known splice_site c.3427+2 e15+2 1.000 - - - no_errors LRP5 HGNC ENSG00000162337 28 0 0 16 9 36 OR2D2 0 genome.wustl.edu 37 11 6913347 6913347 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 6913347 6913347 G A SNP OR2D2 ENST00000299459 human ensembl 74_37 -1 known missense c.385 p.P129S 0.998 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Olfact_rcpt - no_errors OR2D2 HGNC ENSG00000166368 98 0 0 58 37 38.9474 NUMA1 0 genome.wustl.edu 37 11 71720111 71720111 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 71720111 71720111 G A SNP NUMA1 ENST00000393695 human ensembl 74_37 -1 known missense c.4960 p.R1654W 0.605 NULL superfamily_Prefoldin - no_errors NUMA1 HGNC ENSG00000137497 60 0 0 34 29 46.0317 CLPB 0 genome.wustl.edu 37 11 72145511 72145511 + Missense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 72145511 72145511 C A SNP CLPB ENST00000294053 human ensembl 74_37 -1 known missense c.8 p.G3V 0.914 NULL pfam_ATPase_AAA-2,pfam_Ankyrin_rpt,pfam_Clp_ATPase_C,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,pfam_Zeta_toxin_domain,pfam_Sigma_54_int,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_AAA+_ATPase,prints_ClpA/B,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors CLPB HGNC ENSG00000162129 63 0 0 48 8 14.2857 ARAP1 0 genome.wustl.edu 37 11 72404824 72404824 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 72404824 72404824 C T SNP ARAP1 ENST00000393609 human ensembl 74_37 -1 known missense c.3721 p.V1241M 1.000 pfam_Ras-assoc,pfscan_Ras-assoc pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_Ras-assoc,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP - no_errors ARAP1 HGNC ENSG00000186635 15 0 0 13 5 27.7778 ARAP1 0 genome.wustl.edu 37 11 72422546 72422546 + Splice_Site SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 72422546 72422546 T C SNP ARAP1 ENST00000393609 human ensembl 74_37 -1 known splice_site c.1023-2 e6-2 1.000 - - - no_errors ARAP1 HGNC ENSG00000186635 75 0 0 46 14 23.3333 FCHSD2 0 genome.wustl.edu 37 11 72598525 72598525 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 72598525 72598525 C T SNP FCHSD2 ENST00000409418 human ensembl 74_37 -1 known missense c.1136 p.R379H 1.000 NULL pfam_SH3_domain,pfam_FCH_dom,pfam_SH3_2,superfamily_SH3_domain,smart_FCH_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain,prints_SH3_domain - no_errors FCHSD2 HGNC ENSG00000137478 77 0 0 39 26 40 ARHGEF17 0 genome.wustl.edu 37 11 73021469 73021469 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 73021469 73021469 C T SNP ARHGEF17 ENST00000263674 human ensembl 74_37 +1 known missense c.1786 p.R596C 1.000 superfamily_Vinculin/catenin pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,superfamily_Vinculin/catenin,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF17 HGNC ENSG00000110237 90 0 0 93 7 7 RELT 0 genome.wustl.edu 37 11 73103367 73103367 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 73103367 73103367 C T SNP RELT ENST00000064780 human ensembl 74_37 +1 known missense c.479 p.A160V 0.415 prints_TNFR_19-like pfam_TNF_rcpt_RELT,prints_TNFR_19-like - no_errors RELT HGNC ENSG00000054967 56 0 0 32 18 36 PAAF1 0 genome.wustl.edu 37 11 73625524 73625524 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 73625524 73625524 G A SNP PAAF1 ENST00000310571 human ensembl 74_37 +1 known missense c.794 p.C265Y 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors PAAF1 HGNC ENSG00000175575 73 0 0 36 30 45.4545 XRRA1 0 genome.wustl.edu 37 11 74554379 74554379 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 74554379 74554379 G A SNP XRRA1 ENST00000340360 human ensembl 74_37 -1 known missense c.2245 p.R749C 0.024 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors XRRA1 HGNC ENSG00000166435 26 0 0 14 12 46.1538 LRRC32 0 genome.wustl.edu 37 11 76371220 76371220 + Missense_Mutation SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 76371220 76371220 G T SNP LRRC32 ENST00000260061 human ensembl 74_37 -1 known missense c.1417 p.L473I 1.000 NULL pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC32 HGNC ENSG00000137507 43 0 0 32 7 17.9487 B3GNT6 0 genome.wustl.edu 37 11 76751188 76751188 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 76751188 76751188 C T SNP B3GNT6 ENST00000533140 human ensembl 74_37 +1 known missense c.593 p.T198M 1.000 pfam_Glyco_trans_31 pfam_Glyco_trans_31 - no_errors B3GNT6 HGNC ENSG00000198488 79 0 0 76 40 34.4828 MYO7A 0 genome.wustl.edu 37 11 76910689 76910689 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 76910689 76910689 T C SNP MYO7A ENST00000409709 human ensembl 74_37 +1 known missense c.4678 p.C1560R 1.000 pfscan_FERM_domain pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_FERM_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom - no_errors MYO7A HGNC ENSG00000137474 40 0 0 20 7 25.9259 GAB2 0 genome.wustl.edu 37 11 77930333 77930333 + Missense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 77930333 77930333 C A SNP GAB2 ENST00000361507 human ensembl 74_37 -1 known missense c.2016 p.K672N 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors GAB2 HGNC ENSG00000033327 92 0 0 60 23 27.7108 GAB2 0 genome.wustl.edu 37 11 77937549 77937549 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 77937549 77937549 T C SNP GAB2 ENST00000361507 human ensembl 74_37 -1 known missense c.1169 p.N390S 0.998 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors GAB2 HGNC ENSG00000033327 142 0 0 63 47 42.7273 TENM4 0 genome.wustl.edu 37 11 78467902 78467902 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 78467902 78467902 C T SNP TENM4 ENST00000278550 human ensembl 74_37 -1 known missense c.2704 p.V902M 0.997 NULL pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM4 HGNC ENSG00000149256 52 0 0 19 13 40.625 SLC25A22 0 genome.wustl.edu 37 11 792206 792206 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 792206 792206 G A SNP SLC25A22 ENST00000320230 human ensembl 74_37 -1 known missense c.754 p.R252W 0.576 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,prints_Mit_carrier,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,prints_Mit_carrier,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A22 HGNC ENSG00000177542 61 0 0 27 28 50.9091 OR10A6 0 genome.wustl.edu 37 11 7949288 7949288 + Nonsense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 7949288 7949288 G A SNP OR10A6 ENST00000309838 human ensembl 74_37 -1 known nonsense c.922 p.R308* 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10A6 HGNC ENSG00000175393 133 0 0 42 32 43.2432 PNPLA2 0 genome.wustl.edu 37 11 824014 824014 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 824014 824014 C T SNP PNPLA2 ENST00000336615 human ensembl 74_37 +1 known silent c.936 p.C312 0.693 superfamily_Acyl_Trfase/lysoPLipase pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase - no_errors PNPLA2 HGNC ENSG00000177666 24 0 0 9 8 47.0588 C11orf82 0 genome.wustl.edu 37 11 82644065 82644065 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 82644065 82644065 C T SNP C11orf82 ENST00000430323 human ensembl 74_37 +1 known missense c.1685 p.S562L 0.000 NULL pfam_Rep_factor-A_C,superfamily_NA-bd_OB-fold - no_errors C11orf82 HGNC ENSG00000165490 55 0 0 16 16 50 SYTL2 0 genome.wustl.edu 37 11 85445464 85445464 + Missense_Mutation SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 85445464 85445464 G T SNP SYTL2 ENST00000316356 human ensembl 74_37 -1 known missense c.908 p.P303H 0.026 NULL pfam_C2_dom,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,smart_C2_dom,pfscan_C2_dom,pfscan_Znf_FYVE-typ - no_errors SYTL2 HGNC ENSG00000137501 207 0 0 127 14 9.92908 CCDC81 0 genome.wustl.edu 37 11 86133683 86133683 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 86133683 86133683 C T SNP CCDC81 ENST00000445632 human ensembl 74_37 +1 known missense c.1885 p.R629C 0.715 NULL superfamily_IHF-like_DNA-bd_dom - no_errors CCDC81 HGNC ENSG00000149201 63 0 0 41 23 35.9375 TMEM135 0 genome.wustl.edu 37 11 86782632 86782632 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 86782632 86782632 G A SNP TMEM135 ENST00000305494 human ensembl 74_37 +1 known missense c.337 p.A113T 1.000 NULL NULL - no_errors TMEM135 HGNC ENSG00000166575 68 0 0 33 19 36.5385 TMEM135 0 genome.wustl.edu 37 11 87025590 87025590 + Splice_Site SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 87025590 87025590 G A SNP TMEM135 ENST00000305494 human ensembl 74_37 +1 known splice_site c.1077+1 e12+1 1.000 - - - no_errors TMEM135 HGNC ENSG00000166575 28 0 0 15 9 37.5 ST5 0 genome.wustl.edu 37 11 8751578 8751578 + Missense_Mutation SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 8751578 8751578 G T SNP ST5 ENST00000313726 human ensembl 74_37 -1 known missense c.1259 p.P420H 1.000 NULL pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors ST5 HGNC ENSG00000166444 345 0 0 308 30 8.87574 SCUBE2 0 genome.wustl.edu 37 11 9111333 9111333 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 9111333 9111333 G A SNP SCUBE2 ENST00000457346 human ensembl 74_37 -1 known silent c.177 p.D59 0.997 pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors SCUBE2 HGNC ENSG00000175356 155 0 0 101 53 34.4156 FAT3 0 genome.wustl.edu 37 11 92531598 92531598 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 92531598 92531598 C T SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known missense c.5419 p.R1807W 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 36 0 0 20 3 13.0435 FAT3 0 genome.wustl.edu 37 11 92569867 92569867 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 92569867 92569867 C T SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known missense c.10222 p.R3408W 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 42 0 0 38 4 9.52381 FAT3 0 genome.wustl.edu 37 11 92590423 92590423 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 92590423 92590423 G A SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known silent c.11409 p.P3803 0.958 smart_EG-like_dom,pfscan_EG-like_dom pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 112 0 0 48 24 33.3333 PIWIL4 0 genome.wustl.edu 37 11 94326792 94326792 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 94326792 94326792 C T SNP PIWIL4 ENST00000299001 human ensembl 74_37 +1 known missense c.1135 p.L379F 1.000 pfam_PAZ_dom,superfamily_PAZ_dom,smart_PAZ_dom,pfscan_PAZ_dom pfam_Piwi,pfam_PAZ_dom,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi - no_errors PIWIL4 HGNC ENSG00000134627 80 0 0 59 8 11.9403 AP2A2 0 genome.wustl.edu 37 11 970290 970290 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 970290 970290 C T SNP AP2A2 ENST00000332231 human ensembl 74_37 +1 known silent c.258 p.N86 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP2_complex_asu pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a-adaptin_app_sub_C,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP2_complex_asu - no_errors AP2A2 HGNC ENSG00000183020 87 0 0 44 27 38.0282 CNTN5 0 genome.wustl.edu 37 11 99932040 99932040 + Silent SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 99932040 99932040 A G SNP CNTN5 ENST00000279463 human ensembl 74_37 +1 known silent c.1077 p.V359 0.954 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN5 HGNC ENSG00000149972 109 0 0 42 35 45.4545 ANO4 0 genome.wustl.edu 37 12 101433764 101433764 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 101433764 101433764 C T SNP ANO4 ENST00000392977 human ensembl 74_37 +1 known missense c.929 p.T310I 1.000 NULL pfam_Anoctamin - no_errors ANO4 HGNC ENSG00000151572 141 0 0 141 8 5.36913 CHST11 0 genome.wustl.edu 37 12 105151236 105151236 + Missense_Mutation SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 105151236 105151236 G T SNP CHST11 ENST00000303694 human ensembl 74_37 +1 known missense c.714 p.E238D 1.000 pfam_Sulfotransferase pfam_Sulfotransferase - no_errors CHST11 HGNC ENSG00000171310 91 0 0 52 16 23.5294 TCP11L2 0 genome.wustl.edu 37 12 106708177 106708177 + Missense_Mutation SNP G G C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 106708177 106708177 G C SNP TCP11L2 ENST00000299045 human ensembl 74_37 +1 known missense c.199 p.A67P 1.000 NULL pfam_Tcp11 - no_errors TCP11L2 HGNC ENSG00000166046 85 0 0 32 17 34.6939 PWP1 0 genome.wustl.edu 37 12 108091273 108091273 + Missense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 108091273 108091273 C A SNP PWP1 ENST00000412830 human ensembl 74_37 +1 known missense c.643 p.P215T 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors PWP1 HGNC ENSG00000136045 98 0 0 32 12 27.2727 CORO1C 0 genome.wustl.edu 37 12 109041035 109041035 + RNA SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 109041035 109041035 C T SNP CORO1C ENST00000549384 human ensembl 74_37 -1 known rna NULL NULL 0.296 - - - no_errors CORO1C HGNC ENSG00000110880 24 0 0 17 14 45.1613 ALKBH2 0 genome.wustl.edu 37 12 109527862 109527862 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 109527862 109527862 T C SNP ALKBH2 ENST00000343075 human ensembl 74_37 -1 known missense c.431 p.H144R 0.595 NULL pfam_Oxoglu/Fe-dep_dioxygenase - no_errors ALKBH2 HGNC ENSG00000189046 98 0 0 57 17 22.973 UBE3B 0 genome.wustl.edu 37 12 109940840 109940840 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 109940840 109940840 G A SNP UBE3B ENST00000342494 human ensembl 74_37 +1 known missense c.1295 p.R432H 1.000 NULL pfam_HECT,pfam_IQ_motif_EF-hand-BS,superfamily_HECT,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,smart_HECT,pfscan_HECT,pfscan_IQ_motif_EF-hand-BS - no_errors UBE3B HGNC ENSG00000151148 121 0 0 59 31 34.4444 FAM222A 0 genome.wustl.edu 37 12 110206268 110206268 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 110206268 110206268 C T SNP FAM222A ENST00000358906 human ensembl 74_37 +1 known silent c.534 p.A178 0.988 NULL NULL - no_errors FAM222A HGNC ENSG00000139438 46 0 0 18 21 53.8462 ANKRD13A 0 genome.wustl.edu 37 12 110461861 110461861 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 110461861 110461861 G A SNP ANKRD13A ENST00000261739 human ensembl 74_37 +1 known missense c.745 p.G249R 1.000 pfam_ANKRD13 pfam_ANKRD13,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ubiquitin-int_motif,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Ubiquitin-int_motif - no_errors ANKRD13A HGNC ENSG00000076513 241 0 0 182 14 7.14286 TAS2R20 0 genome.wustl.edu 37 12 11149590 11149590 + Nonsense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 11149590 11149590 C T SNP TAS2R20 ENST00000538986 human ensembl 74_37 -1 known nonsense c.885 p.W295* 0.001 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R20 HGNC ENSG00000255837 124 0 0 96 6 5.88235 CUX2 0 genome.wustl.edu 37 12 111701597 111701597 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 111701597 111701597 G A SNP CUX2 ENST00000261726 human ensembl 74_37 +1 known silent c.255 p.A85 0.742 NULL pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_Prefoldin,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT - no_errors CUX2 HGNC ENSG00000111249 180 0 0 135 11 7.53425 CUX2 0 genome.wustl.edu 37 12 111731284 111731284 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 111731284 111731284 G A SNP CUX2 ENST00000261726 human ensembl 74_37 +1 known silent c.471 p.T157 1.000 NULL pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_Prefoldin,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT - no_errors CUX2 HGNC ENSG00000111249 14 0 0 13 6 31.5789 CUX2 0 genome.wustl.edu 37 12 111758570 111758570 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 111758570 111758570 C T SNP CUX2 ENST00000261726 human ensembl 74_37 +1 known silent c.2757 p.F919 0.975 pfam_Hmoeo_CUT,superfamily_Lambda_DNA-bd_dom,pfscan_Hmoeo_CUT pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_Prefoldin,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT - no_errors CUX2 HGNC ENSG00000111249 23 0 0 15 15 50 FAM109A 0 genome.wustl.edu 37 12 111801244 111801244 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 111801244 111801244 G A SNP FAM109A ENST00000361483 human ensembl 74_37 -1 known silent c.27 p.P9 0.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors FAM109A HGNC ENSG00000198324 25 0 0 16 5 23.8095 ACAD10 0 genome.wustl.edu 37 12 112182702 112182702 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 112182702 112182702 A G SNP ACAD10 ENST00000455480 human ensembl 74_37 +1 known missense c.2063 p.E688G 1.000 superfamily_AcylCoA_DH/oxidase_NM_dom pfam_Aminoglycoside_PTrfase,pfam_AcylCo_DH/oxidase_C,pfam_Acyl-CoA_DH_2_C,pfam_AcylCoA_DH/ox_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_HAD-like_dom,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_Kinase-like_dom,superfamily_AcylCo_DH/oxidase_C,superfamily_HAD-like_dom,prints_HAD-SF_hydro_IA,tigrfam_HAD-SF_ppase_IA/epoxid_hydro_N,tigrfam_HAD-SF_hydro_IA - no_errors ACAD10 HGNC ENSG00000111271 101 0 0 42 18 30 NAA25 0 genome.wustl.edu 37 12 112499109 112499109 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 112499109 112499109 C T SNP NAA25 ENST00000261745 human ensembl 74_37 -1 known silent c.1233 p.L411 1.000 pfam_N-acetylTrfase_B_cplx_non-cat pfam_N-acetylTrfase_B_cplx_non-cat,pfscan_TPR-contain_dom - no_errors NAA25 HGNC ENSG00000111300 54 0 0 26 19 42.2222 PTPN11 0 genome.wustl.edu 37 12 112926270 112926270 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 112926270 112926270 C T SNP PTPN11 ENST00000351677 human ensembl 74_37 +1 known missense c.1403 p.T468M 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-6/11,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_SH2,smart_SH2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-6/11,pfscan_SH2,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_SH2 - no_errors PTPN11 HGNC ENSG00000179295 86 0 0 33 34 50.7463 DTX1 0 genome.wustl.edu 37 12 113534522 113534522 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 113534522 113534522 G A SNP DTX1 ENST00000257600 human ensembl 74_37 +1 known silent c.1641 p.V547 0.997 NULL pfam_WWE-dom,smart_WWE-dom_subgr,smart_Znf_RING,pfscan_WWE-dom,pfscan_Znf_RING - no_errors DTX1 HGNC ENSG00000135144 21 0 0 19 12 38.7097 RASAL1 0 genome.wustl.edu 37 12 113541993 113541993 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 113541993 113541993 C T SNP RASAL1 ENST00000546530 human ensembl 74_37 -1 known silent c.1944 p.A648 0.902 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_RasGAP,pfam_C2_dom,pfam_Znf_Btk_motif,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_C2_dom,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP - no_errors RASAL1 HGNC ENSG00000111344 27 0 0 17 10 37.037 ERC1 0 genome.wustl.edu 37 12 1137146 1137146 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 1137146 1137146 G A SNP ERC1 ENST00000360905 human ensembl 74_37 +1 known missense c.77 p.R26H 1.000 NULL pfam_CAZ_cplx_RIM-bd_prot,pfam_Rab-bd_FIP-RBD,superfamily_Prefoldin - no_errors ERC1 HGNC ENSG00000082805 161 1 0.617284 63 35 35.7143 ERC1 0 genome.wustl.edu 37 12 1137661 1137661 + Nonsense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 1137661 1137661 C T SNP ERC1 ENST00000360905 human ensembl 74_37 +1 known nonsense c.592 p.R198* 1.000 pfam_CAZ_cplx_RIM-bd_prot pfam_CAZ_cplx_RIM-bd_prot,pfam_Rab-bd_FIP-RBD,superfamily_Prefoldin - no_errors ERC1 HGNC ENSG00000082805 89 0 0 27 26 49.0566 PRB3 0 genome.wustl.edu 37 12 11421601 11421601 + Silent SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 11421601 11421601 A G SNP PRB3 ENST00000381842 human ensembl 74_37 -1 known silent c.66 p.D22 0.004 NULL NULL - no_errors PRB3 HGNC ENSG00000197870 190 0 0 136 37 21.3873 NOS1 0 genome.wustl.edu 37 12 117665430 117665430 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 117665430 117665430 T C SNP NOS1 ENST00000317775 human ensembl 74_37 -1 known missense c.3422 p.E1141G 1.000 pfam_FAD-binding_1,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_euk pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,pfam_PDZ,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,superfamily_PDZ,smart_PDZ,pirsf_NOS_euk,pfscan_PDZ,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS1 HGNC ENSG00000089250 100 0 0 67 4 5.6338 CIT 0 genome.wustl.edu 37 12 120159173 120159173 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 120159173 120159173 G A SNP CIT ENST00000261833 human ensembl 74_37 -1 known missense c.3547 p.R1183W 1.000 pirsf_Citron_Rho-interacting_kinase pfam_Citron,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pirsf_Citron_Rho-interacting_kinase,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors CIT HGNC ENSG00000122966 99 0 0 35 21 37.5 RPLP0 0 genome.wustl.edu 37 12 120635184 120635184 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 120635184 120635184 A G SNP RPLP0 ENST00000228306 human ensembl 74_37 -1 known missense c.733 p.Y245H 1.000 pfam_Ribosomal_L10/L12 pfam_Ribosomal_L10/acidic_P0,pfam_Ribosomal_L10/L12 - no_errors RPLP0 HGNC ENSG00000089157 67 0 0 30 19 38.7755 KDM2B 0 genome.wustl.edu 37 12 121958832 121958832 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 121958832 121958832 C T SNP KDM2B ENST00000377071 human ensembl 74_37 -1 known missense c.1003 p.V335M 1.000 smart_JmjC_dom,pfscan_JmjC_dom pfam_Znf_CXXC,pfam_F-box_dom,pfam_JmjC_dom,superfamily_Znf_FYVE_PHD,smart_JmjC_dom,smart_Znf_PHD,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors KDM2B HGNC ENSG00000089094 72 0 0 55 23 29.4872 TMEM120B 0 genome.wustl.edu 37 12 122199614 122199614 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 122199614 122199614 G A SNP TMEM120B ENST00000342607 human ensembl 74_37 +1 known missense c.521 p.R174Q 1.000 pfam_TMPIT pfam_TMPIT - no_errors TMEM120B HGNC ENSG00000188735 102 0 0 40 21 34.4262 RHOF 0 genome.wustl.edu 37 12 122217517 122217517 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 122217517 122217517 C T SNP RHOF ENST00000267205 human ensembl 74_37 -1 known missense c.523 p.A175T 0.996 pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase 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,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RHOF HGNC ENSG00000139725 154 0 0 103 48 31.7881 LRRC43 0 genome.wustl.edu 37 12 122667782 122667782 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 122667782 122667782 G A SNP LRRC43 ENST00000339777 human ensembl 74_37 +1 known missense c.91 p.V31M 0.173 NULL NULL - no_errors LRRC43 HGNC ENSG00000158113 14 0 0 13 5 27.7778 B3GNT4 0 genome.wustl.edu 37 12 122691190 122691190 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 122691190 122691190 T C SNP B3GNT4 ENST00000324189 human ensembl 74_37 +1 known missense c.392 p.V131A 0.567 NULL pfam_Glyco_trans_31,pfam_Fringe-like - no_errors B3GNT4 HGNC ENSG00000176383 200 0 0 124 70 36.0825 MPHOSPH9 0 genome.wustl.edu 37 12 123694679 123694679 + Missense_Mutation SNP T T A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 123694679 123694679 T A SNP MPHOSPH9 ENST00000392425 human ensembl 74_37 -1 known missense c.662 p.D221V 0.993 NULL superfamily_Prefoldin - no_errors MPHOSPH9 HGNC ENSG00000051825 116 0 0 33 28 45.9016 EIF2B1 0 genome.wustl.edu 37 12 124111624 124111624 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 124111624 124111624 A G SNP EIF2B1 ENST00000424014 human ensembl 74_37 -1 known missense c.449 p.V150A 1.000 pfam_IF-2B-related pfam_IF-2B-related - no_errors EIF2B1 HGNC ENSG00000111361 124 0 0 59 35 37.234 DNAH10 0 genome.wustl.edu 37 12 124305130 124305130 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 124305130 124305130 T C SNP DNAH10 ENST00000409039 human ensembl 74_37 +1 known missense c.3650 p.V1217A 0.004 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_PyrdxlP-dep_Trfase,smart_AAA+_ATPase - no_errors DNAH10 HGNC ENSG00000197653 64 0 0 40 4 9.09091 CCDC92 0 genome.wustl.edu 37 12 124422299 124422299 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 124422299 124422299 T C SNP CCDC92 ENST00000238156 human ensembl 74_37 -1 known missense c.302 p.E101G 1.000 NULL NULL - no_errors CCDC92 HGNC ENSG00000119242 249 0 0 139 12 7.94702 NCOR2 0 genome.wustl.edu 37 12 124821387 124821387 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 124821387 124821387 C T SNP NCOR2 ENST00000356219 human ensembl 74_37 -1 known silent c.6048 p.P2016 0.221 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR2 HGNC ENSG00000196498 84 0 0 37 37 50 MANSC1 0 genome.wustl.edu 37 12 12483571 12483571 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 12483571 12483571 G A SNP MANSC1 ENST00000535902 human ensembl 74_37 -1 known missense c.686 p.T229M 0.000 NULL pfam_MANSC_N,smart_MANSC_N,pfscan_MANSC - no_errors MANSC1 HGNC ENSG00000111261 88 0 0 54 34 38.6364 DHX37 0 genome.wustl.edu 37 12 125432497 125432497 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 125432497 125432497 G A SNP DHX37 ENST00000544745 human ensembl 74_37 -1 putative missense c.2882 p.A961V 0.000 NULL pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_T2SS_protein-E,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX37 HGNC ENSG00000150990 27 0 0 17 14 45.1613 AACS 0 genome.wustl.edu 37 12 125613957 125613957 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 125613957 125613957 C T SNP AACS ENST00000545511 human ensembl 74_37 +1 putative missense c.239 p.T80M 0.491 NULL NULL - no_errors AACS HGNC ENSG00000081760 274 0 0 139 79 36.2385 DUSP16 0 genome.wustl.edu 37 12 12630669 12630669 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 12630669 12630669 C T SNP DUSP16 ENST00000228862 human ensembl 74_37 -1 known missense c.1096 p.V366M 0.000 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP - no_errors DUSP16 HGNC ENSG00000111266 77 0 0 31 21 40.3846 APOLD1 0 genome.wustl.edu 37 12 12940507 12940507 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 12940507 12940507 G A SNP APOLD1 ENST00000326765 human ensembl 74_37 +1 known missense c.761 p.R254Q 0.352 NULL pfam_ApoL - no_errors APOLD1 HGNC ENSG00000178878 90 0 0 42 37 46.8354 FZD10 0 genome.wustl.edu 37 12 130647923 130647923 + Missense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 130647923 130647923 C A SNP FZD10 ENST00000229030 human ensembl 74_37 +1 known missense c.436 p.L146M 1.000 pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD10 HGNC ENSG00000111432 192 0 0 152 51 25.1232 FZD10 0 genome.wustl.edu 37 12 130648780 130648780 + Nonsense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 130648780 130648780 C T SNP FZD10 ENST00000539839 human ensembl 74_37 +1 known nonsense c.1195 p.R399* 0.921 NULL NULL - no_errors FZD10 HGNC ENSG00000111432 78 0 0 74 6 7.5 RIMBP2 0 genome.wustl.edu 37 12 130935800 130935800 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 130935800 130935800 C T SNP RIMBP2 ENST00000261655 human ensembl 74_37 -1 known silent c.393 p.L131 0.999 NULL pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain,prints_SH3_domain - no_errors RIMBP2 HGNC ENSG00000060709 88 0 0 44 31 41.3333 GPR133 0 genome.wustl.edu 37 12 131466489 131466489 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 131466489 131466489 C T SNP GPR133 ENST00000261654 human ensembl 74_37 +1 known missense c.371 p.A124V 0.952 superfamily_ConA-like_lec_gl_sf pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR133 HGNC ENSG00000111452 136 0 0 83 5 5.68182 SFSWAP 0 genome.wustl.edu 37 12 132210036 132210036 + Missense_Mutation SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 132210036 132210036 G T SNP SFSWAP ENST00000261674 human ensembl 74_37 +1 known missense c.693 p.K231N 0.993 pfam_Surp,superfamily_Surp,smart_Surp,pfscan_Surp pfam_SWAP_N_domain,pfam_Surp,superfamily_Surp,smart_Surp,pfscan_Surp - no_errors SFSWAP HGNC ENSG00000061936 84 0 0 53 26 32.9114 EP400 0 genome.wustl.edu 37 12 132504598 132504598 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 132504598 132504598 T C SNP EP400 ENST00000333577 human ensembl 74_37 +1 known missense c.4390 p.F1464L 1.000 NULL pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors EP400 HGNC ENSG00000183495 79 0 0 81 5 5.81395 EP400 0 genome.wustl.edu 37 12 132529956 132529956 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 132529956 132529956 C T SNP EP400 ENST00000333577 human ensembl 74_37 +1 known missense c.6985 p.R2329C 0.997 NULL pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors EP400 HGNC ENSG00000183495 50 0 0 29 10 25.641 EP400 0 genome.wustl.edu 37 12 132547135 132547135 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 132547135 132547135 G A SNP EP400 ENST00000333577 human ensembl 74_37 +1 known silent c.8331 p.Q2777 0.764 NULL pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors EP400 HGNC ENSG00000183495 75 0 0 76 6 7.31707 POLE 0 genome.wustl.edu 37 12 133219828 133219828 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 133219828 133219828 G A SNP POLE ENST00000320574 human ensembl 74_37 -1 known silent c.4533 p.S1511 0.905 NULL pfam_DNA_pol_e_suA_C,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_3'-5'_exonuclease_PolB-like,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B - no_errors POLE HGNC ENSG00000177084 67 0 0 32 14 30.4348 GOLGA3 0 genome.wustl.edu 37 12 133353594 133353594 + Nonsense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 133353594 133353594 G A SNP GOLGA3 ENST00000204726 human ensembl 74_37 -1 known nonsense c.3805 p.Q1269* 1.000 NULL superfamily_Prefoldin - no_errors GOLGA3 HGNC ENSG00000090615 56 0 0 59 5 7.8125 GRIN2B 0 genome.wustl.edu 37 12 13717534 13717534 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 13717534 13717534 G A SNP GRIN2B ENST00000609686 human ensembl 74_37 -1 known missense c.2638 p.R880C 1.000 pfam_NMDAR2_C pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2B HGNC ENSG00000273079 180 0 0 97 67 40.8537 C12orf60 0 genome.wustl.edu 37 12 14976431 14976431 + Silent SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 14976431 14976431 T C SNP C12orf60 ENST00000330828 human ensembl 74_37 +1 known silent c.562 p.L188 0.263 NULL NULL - no_errors C12orf60 HGNC ENSG00000182993 72 0 0 28 18 39.1304 PTPRO 0 genome.wustl.edu 37 12 15704534 15704534 + Silent SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 15704534 15704534 T C SNP PTPRO ENST00000281171 human ensembl 74_37 +1 known silent c.2487 p.L829 0.060 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRO HGNC ENSG00000151490 125 0 0 42 43 50.5882 MGST1 0 genome.wustl.edu 37 12 16516861 16516861 + Silent SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 16516861 16516861 C A SNP MGST1 ENST00000010404 human ensembl 74_37 +1 known silent c.354 p.T118 0.000 pfam_Membr-assoc_MAPEG pfam_Membr-assoc_MAPEG - no_errors MGST1 HGNC ENSG00000008394 170 0 0 75 34 31.1927 DCP1B 0 genome.wustl.edu 37 12 2062350 2062350 + Missense_Mutation SNP C C G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 2062350 2062350 C G SNP DCP1B ENST00000280665 human ensembl 74_37 -1 known missense c.756 p.Q252H 0.000 NULL pfam_DCP1 - no_errors DCP1B HGNC ENSG00000151065 63 0 0 51 7 12.069 ETNK1 0 genome.wustl.edu 37 12 22826494 22826494 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 22826494 22826494 G A SNP ETNK1 ENST00000266517 human ensembl 74_37 +1 known missense c.1112 p.R371H 0.999 pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom pfam_Aminoglycoside_PTrfase,pfam_DUF227,superfamily_Kinase-like_dom - no_errors ETNK1 HGNC ENSG00000139163 80 0 0 35 19 35.1852 CACNA1C 0 genome.wustl.edu 37 12 2622118 2622118 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 2622118 2622118 A G SNP CACNA1C ENST00000399634 human ensembl 74_37 +1 known missense c.1358 p.D453G 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1C HGNC ENSG00000151067 20 0 0 11 7 38.8889 ITPR2 0 genome.wustl.edu 37 12 26639255 26639255 + Missense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 26639255 26639255 C A SNP ITPR2 ENST00000381340 human ensembl 74_37 -1 known missense c.5593 p.G1865W 1.000 superfamily_ARM-type_fold pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR2 HGNC ENSG00000123104 101 0 0 28 18 39.1304 STK38L 0 genome.wustl.edu 37 12 27467586 27467586 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 27467586 27467586 G A SNP STK38L ENST00000389032 human ensembl 74_37 +1 known missense c.667 p.A223T 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_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom - no_errors STK38L HGNC ENSG00000211455 65 0 0 18 15 45.4545 FAR2 0 genome.wustl.edu 37 12 29474809 29474809 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 29474809 29474809 G A SNP FAR2 ENST00000182377 human ensembl 74_37 +1 known silent c.1209 p.T403 0.007 pfam_FAR pfam_Male_sterile_NAD-bd,pfam_FAR,pfam_Epimerase_deHydtase,pfam_3Beta_OHSteriod_DH/Estase,pfam_Polysac_CapD-like - no_errors FAR2 HGNC ENSG00000064763 130 0 0 37 28 43.0769 ERGIC2 0 genome.wustl.edu 37 12 29524560 29524560 + Nonsense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 29524560 29524560 G A SNP ERGIC2 ENST00000360150 human ensembl 74_37 -1 known nonsense c.7 p.R3* 1.000 NULL pfam_Erv_C - no_errors ERGIC2 HGNC ENSG00000087502 39 0 0 24 4 14.2857 OVCH1 0 genome.wustl.edu 37 12 29617462 29617462 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 29617462 29617462 G A SNP OVCH1 ENST00000318184 human ensembl 74_37 -1 known silent c.2103 p.T701 0.989 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_CUB_dom,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,smart_Peptidase_S1,smart_CUB_dom,pfscan_CUB_dom,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors OVCH1 HGNC ENSG00000187950 54 0 0 32 4 11.1111 FOXM1 0 genome.wustl.edu 37 12 2973658 2973658 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 2973658 2973658 C T SNP FOXM1 ENST00000342628 human ensembl 74_37 -1 known missense c.1094 p.R365Q 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXM1 HGNC ENSG00000111206 101 0 0 49 35 41.6667 KIAA1551 0 genome.wustl.edu 37 12 32137913 32137913 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 32137913 32137913 C T SNP KIAA1551 ENST00000312561 human ensembl 74_37 +1 known missense c.4024 p.P1342S 0.000 NULL NULL - no_errors KIAA1551 HGNC ENSG00000174718 114 0 0 53 34 39.0805 BICD1 0 genome.wustl.edu 37 12 32490722 32490722 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 32490722 32490722 C T SNP BICD1 ENST00000281474 human ensembl 74_37 +1 known missense c.2542 p.R848W 1.000 NULL pfam_Bicaudal-D_microtubule-assoc,superfamily_SPOC_like_C_dom - no_errors BICD1 HGNC ENSG00000151746 153 0 0 81 58 41.7266 DNM1L 0 genome.wustl.edu 37 12 32866233 32866233 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 32866233 32866233 G A SNP DNM1L ENST00000553257 human ensembl 74_37 +1 known missense c.586 p.A196T 1.000 pfam_Dynamin_GTPase,superfamily_P-loop_NTPase,smart_Dynamin_GTPase pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,superfamily_P-loop_NTPase,smart_Dynamin_GTPase,smart_GED,prints_Dynamin_SF - no_errors DNM1L HGNC ENSG00000087470 116 0 0 72 4 5.26316 LRRK2 0 genome.wustl.edu 37 12 40653408 40653408 + Splice_Site SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 40653408 40653408 T C SNP LRRK2 ENST00000298910 human ensembl 74_37 +1 known splice_site c.1543+2 e13+2 1.000 - - - no_errors LRRK2 HGNC ENSG00000188906 100 0 0 37 26 41.2698 LRRK2 0 genome.wustl.edu 37 12 40699624 40699624 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 40699624 40699624 C T SNP LRRK2 ENST00000298910 human ensembl 74_37 +1 known missense c.3815 p.S1272F 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,tigrfam_Small_GTP-bd_dom - no_errors LRRK2 HGNC ENSG00000188906 77 0 0 32 6 15.7895 CNTN1 0 genome.wustl.edu 37 12 41312552 41312552 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 41312552 41312552 C T SNP CNTN1 ENST00000347616 human ensembl 74_37 +1 known missense c.206 p.A69V 1.000 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 CNTN1 HGNC ENSG00000018236 101 0 0 45 28 38.3562 PRICKLE1 0 genome.wustl.edu 37 12 42853839 42853839 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 42853839 42853839 G A SNP PRICKLE1 ENST00000345127 human ensembl 74_37 -1 known silent c.2268 p.G756 0.006 NULL pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors PRICKLE1 HGNC ENSG00000139174 161 0 0 92 54 36.9863 NELL2 0 genome.wustl.edu 37 12 44915860 44915860 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 44915860 44915860 A G SNP NELL2 ENST00000437801 human ensembl 74_37 -1 known missense c.2248 p.C750R 1.000 smart_VWC_out,smart_VWF_C,pfscan_VWF_C pfam_EGF-like_Ca-bd_dom,pfam_VWF_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_VWC_out,smart_VWF_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_VWF_C - no_errors NELL2 HGNC ENSG00000184613 89 0 0 38 16 29.6296 FGF6 0 genome.wustl.edu 37 12 4554487 4554487 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 4554487 4554487 G A SNP FGF6 ENST00000228837 human ensembl 74_37 -1 known missense c.250 p.R84W 1.000 pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam - no_errors FGF6 HGNC ENSG00000111241 103 1 0.961538 74 23 23.7113 SCAF11 0 genome.wustl.edu 37 12 46321969 46321969 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 46321969 46321969 C T SNP SCAF11 ENST00000369367 human ensembl 74_37 -1 known silent c.1515 p.L505 0.000 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors SCAF11 HGNC ENSG00000139218 97 0 0 43 21 32.8125 AKAP3 0 genome.wustl.edu 37 12 4735743 4735743 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 4735743 4735743 G A SNP AKAP3 ENST00000228850 human ensembl 74_37 -1 known silent c.2325 p.A775 0.801 pfam_AKAP_110_C,smart_AKAP_110 pfam_AKAP_110_C,pfam_RII_binding_1,smart_AKAP_110 - no_errors AKAP3 HGNC ENSG00000111254 127 0 0 53 34 39.0805 AKAP3 0 genome.wustl.edu 37 12 4737134 4737134 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 4737134 4737134 T C SNP AKAP3 ENST00000228850 human ensembl 74_37 -1 known missense c.934 p.T312A 1.000 pfam_AKAP_110_C,smart_AKAP_110 pfam_AKAP_110_C,pfam_RII_binding_1,smart_AKAP_110 - no_errors AKAP3 HGNC ENSG00000111254 57 0 0 19 16 45.7143 ENSG00000258352 0 genome.wustl.edu 37 12 47529609 47529609 + RNA SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 47529609 47529609 T C SNP ENSG00000258352 ENST00000548463 human ensembl 74_37 -1 known rna NULL NULL 0.055 - - - no_errors RP11-23J18.1 Clone_based_vega_gene ENSG00000258352 30 0 0 20 18 47.3684 CCNT1 0 genome.wustl.edu 37 12 49089559 49089559 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 49089559 49089559 G A SNP CCNT1 ENST00000261900 human ensembl 74_37 -1 known missense c.760 p.R254C 1.000 NULL pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNT1 HGNC ENSG00000129315 53 0 0 21 12 36.3636 KMT2D 0 genome.wustl.edu 37 12 49416123 49416123 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 49416123 49416123 T C SNP KMT2D ENST00000301067 human ensembl 74_37 -1 known missense c.16352 p.Y5451C 1.000 pfam_SET_dom,smart_SET_dom,pfscan_SET_dom pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2D HGNC ENSG00000167548 23 0 0 15 6 28.5714 KMT2D 0 genome.wustl.edu 37 12 49420024 49420024 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 49420024 49420024 A G SNP KMT2D ENST00000301067 human ensembl 74_37 -1 known missense c.15725 p.V5242A 0.014 pfam_FYrich_C,smart_FYrich_C pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2D HGNC ENSG00000167548 99 0 0 52 22 29.7297 PRPH 0 genome.wustl.edu 37 12 49690795 49690795 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 49690795 49690795 G A SNP PRPH ENST00000257860 human ensembl 74_37 +1 known missense c.826 p.A276T 1.000 pfam_IF pfam_IF,pfam_Intermed_filament_DNA-bd,prints_Keratin_I - no_errors PRPH HGNC ENSG00000135406 48 0 0 36 10 21.7391 KCNH3 0 genome.wustl.edu 37 12 49933274 49933274 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 49933274 49933274 G A SNP KCNH3 ENST00000257981 human ensembl 74_37 +1 known silent c.75 p.T25 1.000 NULL pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_cNMP-bd_dom,pfam_PAS_4,pfam_PAS_fold,pfam_PAS_fold_3,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH3 HGNC ENSG00000135519 23 0 0 20 24 54.5455 MCRS1 0 genome.wustl.edu 37 12 49953005 49953005 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 49953005 49953005 C T SNP MCRS1 ENST00000357123 human ensembl 74_37 -1 known missense c.1205 p.R402Q 1.000 pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors MCRS1 HGNC ENSG00000187778 44 0 0 42 4 8.69565 FAM186B 0 genome.wustl.edu 37 12 49994809 49994809 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 49994809 49994809 A G SNP FAM186B ENST00000257894 human ensembl 74_37 -1 known missense c.614 p.M205T 0.001 NULL NULL - no_errors FAM186B HGNC ENSG00000135436 97 0 0 50 19 27.5362 KCNA1 0 genome.wustl.edu 37 12 5020649 5020649 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 5020649 5020649 C T SNP KCNA1 ENST00000382545 human ensembl 74_37 +1 known silent c.105 p.C35 1.000 prints_K_chnl_volt-dep_Kv1.3 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 59 0 0 43 33 43.4211 KCNA1 0 genome.wustl.edu 37 12 5021254 5021254 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 5021254 5021254 T C SNP KCNA1 ENST00000382545 human ensembl 74_37 +1 known missense c.710 p.V237A 1.000 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 97 0 0 43 40 48.1928 KCNA1 0 genome.wustl.edu 37 12 5021268 5021268 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 5021268 5021268 G A SNP KCNA1 ENST00000382545 human ensembl 74_37 +1 known missense c.724 p.A242T 1.000 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 108 0 0 47 37 44.0476 DIP2B 0 genome.wustl.edu 37 12 51122352 51122352 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 51122352 51122352 G A SNP DIP2B ENST00000301180 human ensembl 74_37 +1 known missense c.3532 p.A1178T 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd - no_errors DIP2B HGNC ENSG00000066084 76 0 0 42 22 34.375 SCN8A 0 genome.wustl.edu 37 12 52100214 52100214 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 52100214 52100214 G A SNP SCN8A ENST00000354534 human ensembl 74_37 +1 known silent c.1350 p.A450 0.242 NULL pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,prints_Na_channel_a8su,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN8A HGNC ENSG00000196876 14 0 0 7 6 46.1538 SCN8A 0 genome.wustl.edu 37 12 52115620 52115620 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 52115620 52115620 G A SNP SCN8A ENST00000354534 human ensembl 74_37 +1 known silent c.1926 p.T642 0.777 pfam_DUF3451 pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,prints_Na_channel_a8su,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN8A HGNC ENSG00000196876 64 0 0 41 31 43.0556 KRT121P 0 genome.wustl.edu 37 12 52652187 52652187 + RNA SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 52652187 52652187 C A SNP KRT121P ENST00000529785 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors KRT121P HGNC ENSG00000135477 46 0 0 29 21 42 KRT84 0 genome.wustl.edu 37 12 52776272 52776272 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 52776272 52776272 G A SNP KRT84 ENST00000257951 human ensembl 74_37 -1 known silent c.861 p.N287 0.171 pfam_IF,superfamily_Prefoldin pfam_IF,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I - no_errors KRT84 HGNC ENSG00000161849 69 0 0 26 18 40.9091 KRT75 0 genome.wustl.edu 37 12 52818457 52818457 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 52818457 52818457 G A SNP KRT75 ENST00000252245 human ensembl 74_37 -1 known silent c.1500 p.S500 0.044 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT75 HGNC ENSG00000170454 178 1 0.558659 122 46 27.381 SPRYD3 0 genome.wustl.edu 37 12 53462055 53462055 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 53462055 53462055 C T SNP SPRYD3 ENST00000301463 human ensembl 74_37 -1 known missense c.727 p.V243M 1.000 NULL pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY - no_errors SPRYD3 HGNC ENSG00000167778 202 1 0.492611 106 63 37.2781 AAAS 0 genome.wustl.edu 37 12 53702980 53702980 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 53702980 53702980 C T SNP AAAS ENST00000209873 human ensembl 74_37 -1 known missense c.896 p.G299D 1.000 smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors AAAS HGNC ENSG00000094914 211 0 0 184 18 8.91089 PCBP2 0 genome.wustl.edu 37 12 53849156 53849156 + Splice_Site SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 53849156 53849156 T C SNP PCBP2 ENST00000603815 human ensembl 74_37 +1 known splice_site c.93+2 e2+2 1.000 - - - no_errors PCBP2 HGNC ENSG00000197111 78 0 0 31 17 35.4167 NCKAP1L 0 genome.wustl.edu 37 12 54913106 54913106 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 54913106 54913106 T C SNP NCKAP1L ENST00000293373 human ensembl 74_37 +1 known missense c.1615 p.S539P 1.000 pfam_Nck-associated_protein-1 pfam_Nck-associated_protein-1,superfamily_Nucl_hormone_rcpt_ligand-bd - no_errors NCKAP1L HGNC ENSG00000123338 99 0 0 46 25 35.2113 OR6C74 0 genome.wustl.edu 37 12 55641456 55641456 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 55641456 55641456 C T SNP OR6C74 ENST00000343870 human ensembl 74_37 +1 known missense c.385 p.H129Y 0.998 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6C74 HGNC ENSG00000197706 166 0 0 62 41 39.8058 OR6C74 0 genome.wustl.edu 37 12 55641521 55641521 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 55641521 55641521 C T SNP OR6C74 ENST00000343870 human ensembl 74_37 +1 known silent c.450 p.G150 0.081 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 OR6C74 HGNC ENSG00000197706 110 0 0 36 17 32.0755 OR2AP1 0 genome.wustl.edu 37 12 55968582 55968582 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 55968582 55968582 G A SNP OR2AP1 ENST00000321688 human ensembl 74_37 +1 known silent c.384 p.L128 0.996 pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR2AP1 HGNC ENSG00000179615 25 0 0 12 4 25 ITGA7 0 genome.wustl.edu 37 12 56101281 56101281 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 56101281 56101281 C T SNP ITGA7 ENST00000555728 human ensembl 74_37 -1 known silent c.186 p.L62 0.986 smart_Int_alpha_beta-p pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA7 HGNC ENSG00000135424 51 0 0 45 8 15.0943 SMARCC2 0 genome.wustl.edu 37 12 56565655 56565655 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 56565655 56565655 C T SNP SMARCC2 ENST00000267064 human ensembl 74_37 -1 known missense c.1900 p.E634K 1.000 pfam_SANT/Myb,superfamily_Homeodomain-like,superfamily_Chromodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,superfamily_BRCT_dom,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_SANT/Myb,pfscan_SWIRM,pfscan_Myb-like_dom - no_errors SMARCC2 HGNC ENSG00000139613 59 0 0 36 25 40.9836 TIMELESS 0 genome.wustl.edu 37 12 56817451 56817451 + Silent SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 56817451 56817451 T C SNP TIMELESS ENST00000553532 human ensembl 74_37 -1 known silent c.2007 p.E669 0.019 NULL pfam_TIMELESS_C,pfam_Timeless - no_errors TIMELESS HGNC ENSG00000111602 61 0 0 35 9 20.4545 LRP1 0 genome.wustl.edu 37 12 57537507 57537507 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 57537507 57537507 T C SNP LRP1 ENST00000243077 human ensembl 74_37 +1 known missense c.374 p.V125A 1.000 smart_EGF-like_Ca-bd_dom,smart_EG-like_dom pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1 HGNC ENSG00000123384 73 0 0 84 6 6.66667 LRP1 0 genome.wustl.edu 37 12 57539115 57539115 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 57539115 57539115 G A SNP LRP1 ENST00000243077 human ensembl 74_37 +1 known missense c.683 p.R228Q 0.993 NULL pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1 HGNC ENSG00000123384 55 0 0 29 17 36.9565 VWF 0 genome.wustl.edu 37 12 6220099 6220099 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 6220099 6220099 C T SNP VWF ENST00000261405 human ensembl 74_37 -1 known missense c.256 p.V86M 0.993 pirsf_VWF,pfam_VWF_type-D,smart_VWF_type-D pirsf_VWF,pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C - no_errors VWF HGNC ENSG00000110799 149 0 0 92 25 21.3675 LDHAL6CP 0 genome.wustl.edu 37 12 63398225 63398225 + RNA SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 63398225 63398225 C T SNP LDHAL6CP ENST00000550738 human ensembl 74_37 +1 known rna NULL NULL 0.983 - - - no_errors LDHAL6CP HGNC ENSG00000250517 34 0 0 8 7 46.6667 TMEM5-AS1 0 genome.wustl.edu 37 12 64215902 64215902 + RNA SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 64215902 64215902 T C SNP TMEM5-AS1 ENST00000546214 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors TMEM5-AS1 HGNC ENSG00000255850 43 0 0 26 8 23.5294 TNFRSF1A 0 genome.wustl.edu 37 12 6438527 6438527 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 6438527 6438527 G A SNP TNFRSF1A ENST00000162749 human ensembl 74_37 -1 known missense c.1319 p.A440V 0.026 pfam_Death_domain,superfamily_DEATH-like_dom,smart_Death_domain,pfscan_Death_domain pfam_TNFR/NGFR_Cys_rich_reg,pfam_Death_domain,superfamily_DEATH-like_dom,smart_TNFR/NGFR_Cys_rich_reg,smart_Death_domain,pfscan_Death_domain,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_1A - no_errors TNFRSF1A HGNC ENSG00000067182 11 0 0 6 4 40 MSRB3 0 genome.wustl.edu 37 12 65857048 65857048 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 65857048 65857048 C T SNP MSRB3 ENST00000355192 human ensembl 74_37 +1 known silent c.525 p.A175 0.000 NULL pfam_Met_Sox_Rdtase_MsrB,superfamily_Mss4-like,tigrfam_Met_Sox_Rdtase_MsrB - no_errors MSRB3 HGNC ENSG00000174099 69 0 0 39 21 35 IFFO1 0 genome.wustl.edu 37 12 6658950 6658950 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 6658950 6658950 T C SNP IFFO1 ENST00000356896 human ensembl 74_37 -1 known missense c.1043 p.N348S 1.000 NULL NULL - no_errors IFFO1 HGNC ENSG00000010295 34 0 0 35 19 35.1852 NOP2 0 genome.wustl.edu 37 12 6675296 6675296 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 6675296 6675296 T C SNP NOP2 ENST00000322166 human ensembl 74_37 -1 known missense c.445 p.N149D 0.000 NULL pfam_Fmu/NOL1/Nop2p,pfam_P120R,pfam_rRNA_MeTrfase_FtsJ_dom,prints_RCMT,prints_RCMT_NOP2,tigrfam_Nop2p - no_errors NOP2 HGNC ENSG00000111641 33 0 0 12 7 36.8421 CHD4 0 genome.wustl.edu 37 12 6704507 6704507 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 6704507 6704507 G A SNP CHD4 ENST00000309577 human ensembl 74_37 -1 known missense c.2114 p.T705I 0.882 superfamily_P-loop_NTPase pfam_CHD_C2,pfam_DUF1086,pfam_SNF2_N,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,superfamily_Homeodomain-like,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD4 HGNC ENSG00000111642 121 0 0 52 24 31.5789 NINJ2 0 genome.wustl.edu 37 12 675144 675144 + Silent SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 675144 675144 C A SNP NINJ2 ENST00000305108 human ensembl 74_37 -1 known silent c.372 p.V124 0.991 pfam_Ninjurin pfam_Ninjurin - no_errors NINJ2 HGNC ENSG00000171840 78 0 0 42 22 34.375 MDM1 0 genome.wustl.edu 37 12 68696460 68696460 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 68696460 68696460 A G SNP MDM1 ENST00000303145 human ensembl 74_37 -1 known missense c.1912 p.Y638H 0.503 NULL NULL - no_errors MDM1 HGNC ENSG00000111554 90 0 0 52 29 35.8025 PTMS 0 genome.wustl.edu 37 12 6879359 6879359 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 6879359 6879359 C T SNP PTMS ENST00000389462 human ensembl 74_37 +1 known missense c.310 p.R104C 1.000 NULL pfam_Pro/parathymosin - no_errors PTMS HGNC ENSG00000159335 36 0 0 29 14 32.5581 CPSF6 0 genome.wustl.edu 37 12 69653833 69653833 + Missense_Mutation SNP G G C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 69653833 69653833 G C SNP CPSF6 ENST00000266679 human ensembl 74_37 +1 known missense c.1436 p.G479A 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CPSF6 HGNC ENSG00000111605 70 0 0 32 13 28.8889 DSTNP2 0 genome.wustl.edu 37 12 6994100 6994100 + RNA SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 6994100 6994100 G A SNP DSTNP2 ENST00000602547 human ensembl 74_37 +1 known rna NULL NULL 0.587 - - - no_errors DSTNP2 HGNC ENSG00000248593 40 0 0 17 9 34.6154 BEST3 0 genome.wustl.edu 37 12 70066743 70066743 + Silent SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 70066743 70066743 T C SNP BEST3 ENST00000330891 human ensembl 74_37 -1 known silent c.870 p.V290 0.206 pfam_Bestrophin/UPF0187 pfam_Bestrophin/UPF0187 - no_errors BEST3 HGNC ENSG00000127325 49 0 0 32 19 37.2549 LGR5 0 genome.wustl.edu 37 12 71977878 71977878 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 71977878 71977878 C T SNP LGR5 ENST00000266674 human ensembl 74_37 +1 known silent c.2088 p.A696 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_Leu-rich_rpt,pfam_GPCR_Rhodpsn,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors LGR5 HGNC ENSG00000139292 236 0 0 138 70 33.6538 ZFC3H1 0 genome.wustl.edu 37 12 72013159 72013159 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 72013159 72013159 G A SNP ZFC3H1 ENST00000378743 human ensembl 74_37 -1 known missense c.5080 p.R1694W 1.000 NULL pfam_Putative_zinc-finger_domain,smart_HAT,pfscan_TPR-contain_dom - no_errors ZFC3H1 HGNC ENSG00000133858 41 0 0 22 15 40.5405 CD163 0 genome.wustl.edu 37 12 7649477 7649477 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 7649477 7649477 T C SNP CD163 ENST00000359156 human ensembl 74_37 -1 known missense c.1031 p.Q344R 0.004 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_SRCR,pfscan_SRCR - no_errors CD163 HGNC ENSG00000177575 87 0 0 49 7 12.5 GDF3 0 genome.wustl.edu 37 12 7843257 7843257 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 7843257 7843257 G A SNP GDF3 ENST00000329913 human ensembl 74_37 -1 known silent c.312 p.C104 0.773 pfam_TGF-b_N pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_asu - no_errors GDF3 HGNC ENSG00000184344 85 0 0 73 17 18.8889 NANOG 0 genome.wustl.edu 37 12 7947660 7947660 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 7947660 7947660 A G SNP NANOG ENST00000229307 human ensembl 74_37 +1 known missense c.887 p.Y296C 0.004 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors NANOG HGNC ENSG00000111704 107 0 0 54 14 20.5882 CLEC4A 0 genome.wustl.edu 37 12 8290783 8290783 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 8290783 8290783 T C SNP CLEC4A ENST00000229332 human ensembl 74_37 +1 known missense c.614 p.V205A 0.000 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 CLEC4A HGNC ENSG00000111729 108 0 0 37 27 42.1875 FAM90A1 0 genome.wustl.edu 37 12 8374786 8374786 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 8374786 8374786 G A SNP FAM90A1 ENST00000307435 human ensembl 74_37 -1 known missense c.1027 p.R343C 0.000 NULL NULL - no_errors FAM90A1 HGNC ENSG00000171847 66 0 0 60 13 17.8082 C12orf29 0 genome.wustl.edu 37 12 88442177 88442177 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 88442177 88442177 A G SNP C12orf29 ENST00000356891 human ensembl 74_37 +1 known missense c.956 p.K319R 1.000 NULL NULL - no_errors C12orf29 HGNC ENSG00000133641 34 0 0 7 4 36.3636 CEP290 0 genome.wustl.edu 37 12 88505561 88505561 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 88505561 88505561 G A SNP CEP290 ENST00000309041 human ensembl 74_37 -1 known silent c.2133 p.T711 0.997 NULL NULL - no_errors CEP290 HGNC ENSG00000198707 30 0 0 22 9 29.0323 DCN 0 genome.wustl.edu 37 12 91539866 91539866 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 91539866 91539866 C T SNP DCN ENST00000052754 human ensembl 74_37 -1 known missense c.1049 p.R350H 1.000 pirsf_SLRP_I_decor/aspor/byglycan pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,pirsf_SLRP_I_decor/aspor/byglycan - no_errors DCN HGNC ENSG00000011465 120 0 0 88 9 9.27835 A2M 0 genome.wustl.edu 37 12 9229987 9229987 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 9229987 9229987 G A SNP A2M ENST00000318602 human ensembl 74_37 -1 known silent c.3306 p.S1102 0.994 pfam_A2M_comp,superfamily_Terpenoid_cyclase/PrenylTrfase pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,superfamily_Beta-lactam/transpept-like,superfamily_Cupredoxin - no_errors A2M HGNC ENSG00000175899 30 0 0 10 12 54.5455 BTG1 0 genome.wustl.edu 37 12 92539222 92539222 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 92539222 92539222 C T SNP BTG1 ENST00000256015 human ensembl 74_37 -1 known silent c.90 p.G30 1.000 pfam_Anti_prolifrtn,smart_Anti_prolifrtn,prints_Anti_prolifrtn pfam_Anti_prolifrtn,smart_Anti_prolifrtn,prints_Anti_prolifrtn - no_errors BTG1 HGNC ENSG00000133639 51 0 0 36 30 45.4545 A2M 0 genome.wustl.edu 37 12 9264788 9264788 + Silent SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 9264788 9264788 G T SNP A2M ENST00000318602 human ensembl 74_37 -1 known silent c.450 p.S150 0.788 pfam_A2M_N,superfamily_Cupredoxin pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,superfamily_Beta-lactam/transpept-like,superfamily_Cupredoxin - no_errors A2M HGNC ENSG00000175899 59 0 0 25 12 32.4324 TMCC3 0 genome.wustl.edu 37 12 94976202 94976202 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 94976202 94976202 A G SNP TMCC3 ENST00000261226 human ensembl 74_37 -1 known missense c.191 p.V64A 1.000 pfam_Predicted_TM_coiled-coil_2 pfam_Predicted_TM_coiled-coil_2 - no_errors TMCC3 HGNC ENSG00000057704 155 0 0 48 44 47.8261 USP44 0 genome.wustl.edu 37 12 95918558 95918558 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 95918558 95918558 C T SNP USP44 ENST00000258499 human ensembl 74_37 -1 known missense c.1631 p.R544H 0.997 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP44 HGNC ENSG00000136014 71 0 0 42 6 12.5 PGAM1P5 0 genome.wustl.edu 37 12 96066236 96066236 + RNA SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 96066236 96066236 G A SNP PGAM1P5 ENST00000552554 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors PGAM1P5 HGNC ENSG00000257150 109 0 0 53 33 38.3721 AMDHD1 0 genome.wustl.edu 37 12 96361564 96361564 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 96361564 96361564 C T SNP AMDHD1 ENST00000266736 human ensembl 74_37 +1 known silent c.1224 p.G408 0.977 superfamily_Metal-dep_hydrolase_composite,tigrfam_HutI pfam_Amidohydro_1,pfam_Amidohydro_3,superfamily_Metal-dep_hydrolase_composite,tigrfam_HutI - no_errors AMDHD1 HGNC ENSG00000139344 32 0 0 9 7 43.75 LTA4H 0 genome.wustl.edu 37 12 96429215 96429215 + Missense_Mutation SNP A A C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 96429215 96429215 A C SNP LTA4H ENST00000228740 human ensembl 74_37 -1 known missense c.83 p.V28G 1.000 pfam_Peptidase_M1_N,tigrfam_Leukotriene_A4_hydrolase pfam_Peptidase_M1_N,pfam_Peptidase_M1_C,superfamily_ARM-type_fold,prints_Peptidase_M1_N,tigrfam_Leukotriene_A4_hydrolase - no_errors LTA4H HGNC ENSG00000111144 16 0 0 12 8 40 CD69 0 genome.wustl.edu 37 12 9907755 9907755 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 9907755 9907755 T C SNP CD69 ENST00000228434 human ensembl 74_37 -1 known missense c.290 p.Y97C 0.958 pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CD69 HGNC ENSG00000110848 90 0 0 46 35 43.2099 APAF1 0 genome.wustl.edu 37 12 99126412 99126412 + RNA SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 99126412 99126412 C T SNP APAF1 ENST00000552929 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors APAF1 HGNC ENSG00000120868 8 0 0 2 4 66.6667 ANKS1B 0 genome.wustl.edu 37 12 99638168 99638168 + Missense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 99638168 99638168 C A SNP ANKS1B ENST00000329257 human ensembl 74_37 -1 known missense c.2371 p.D791Y 1.000 NULL pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_PTB/PI_dom,pfam_SAM_2,pfam_PTB,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,smart_PTB/PI_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PTB/PI_dom,pfscan_SAM,prints_Ankyrin_rpt - no_errors ANKS1B HGNC ENSG00000185046 30 0 0 7 6 46.1538 ZIC2 0 genome.wustl.edu 37 13 100637714 100637714 + Silent SNP A A T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 13 100637714 100637714 A T SNP ZIC2 ENST00000376335 human ensembl 74_37 +1 known silent c.1377 p.A459 0.338 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZIC2 HGNC ENSG00000043355 11 0 0 13 7 35 NALCN 0 genome.wustl.edu 37 13 101757264 101757264 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 13 101757264 101757264 T C SNP NALCN ENST00000251127 human ensembl 74_37 -1 known missense c.2617 p.T873A 1.000 NULL pfam_Ion_trans_dom - no_errors NALCN HGNC ENSG00000102452 53 0 0 30 16 34.7826 TPP2 0 genome.wustl.edu 37 13 103290596 103290596 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 13 103290596 103290596 G A SNP TPP2 ENST00000376065 human ensembl 74_37 +1 known missense c.1844 p.G615D 1.000 NULL pfam_Peptidase_S8/S53_dom,pfam_Peptidase_S8A_TPPII,superfamily_Peptidase_S8/S53_dom,prints_Peptidase_S8_subtilisin-rel - no_errors TPP2 HGNC ENSG00000134900 103 0 0 41 22 34.9206 ERCC5 0 genome.wustl.edu 37 13 103518251 103518251 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 13 103518251 103518251 A G SNP ERCC5 ENST00000355739 human ensembl 74_37 +1 known missense c.2189 p.D730G 1.000 prints_XPG/Rad2_eukaryotes,tigrfam_XPG/Rad2_eukaryotes pfam_XPG_DNA_repair_N,pfam_XPG-I_dom,superfamily_5-3_exonuclease_C,smart_XPG_DNA_repair_N,smart_XPG-I_dom,smart_HhH2,prints_XPG/Rad2_eukaryotes,prints_XPG/Rad2,tigrfam_XPG/Rad2_eukaryotes - no_errors ERCC5 HGNC ENSG00000134899 101 0 0 71 5 6.57895 MYO16 0 genome.wustl.edu 37 13 109779686 109779686 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 13 109779686 109779686 C T SNP MYO16 ENST00000356711 human ensembl 74_37 +1 known missense c.3773 p.A1258V 0.340 NULL pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO16 HGNC ENSG00000041515 35 0 0 18 13 41.9355 MYO16 0 genome.wustl.edu 37 13 109779790 109779790 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 13 109779790 109779790 C T SNP MYO16 ENST00000356711 human ensembl 74_37 +1 known missense c.3877 p.R1293W 0.997 NULL pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO16 HGNC ENSG00000041515 55 0 0 19 14 42.4242 MYO16 0 genome.wustl.edu 37 13 109793423 109793423 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 13 109793423 109793423 C T SNP MYO16 ENST00000356711 human ensembl 74_37 +1 known silent c.4797 p.P1599 0.000 NULL pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO16 HGNC ENSG00000041515 12 0 0 4 3 42.8571 IRS2 0 genome.wustl.edu 37 13 110434515 110434515 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 13 110434515 110434515 C T SNP IRS2 ENST00000375856 human ensembl 74_37 -1 known missense c.3886 p.A1296T 0.015 NULL pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1 - no_errors IRS2 HGNC ENSG00000185950 19 0 0 28 11 28.2051 IRS2 0 genome.wustl.edu 37 13 110436740 110436740 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 13 110436740 110436740 C T SNP IRS2 ENST00000375856 human ensembl 74_37 -1 known missense c.1661 p.R554H 0.501 NULL pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1 - no_errors IRS2 HGNC ENSG00000185950 44 0 0 25 16 39.0244 ING1 0 genome.wustl.edu 37 13 111371744 111371744 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 13 111371744 111371744 G A SNP ING1 ENST00000375774 human ensembl 74_37 +1 known missense c.734 p.R245H 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors ING1 HGNC ENSG00000153487 80 0 0 55 47 46.0784 TUBGCP3 0 genome.wustl.edu 37 13 113140461 113140461 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 13 113140461 113140461 A G SNP TUBGCP3 ENST00000261965 human ensembl 74_37 -1 known missense c.2570 p.I857T 0.893 NULL pfam_TUBGCP - no_errors TUBGCP3 HGNC ENSG00000126216 42 0 0 12 11 47.8261 TMCO3 0 genome.wustl.edu 37 13 114188430 114188430 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 13 114188430 114188430 C T SNP TMCO3 ENST00000434316 human ensembl 74_37 +1 known missense c.1414 p.L472F 0.986 pfam_Cation/H_exchanger pfam_Cation/H_exchanger - no_errors TMCO3 HGNC ENSG00000150403 153 1 0.649351 55 4 6.77966 TMCO3 0 genome.wustl.edu 37 13 114188435 114188435 + Missense_Mutation SNP A A T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 13 114188435 114188435 A T SNP TMCO3 ENST00000434316 human ensembl 74_37 +1 known missense c.1419 p.L473F 0.149 pfam_Cation/H_exchanger pfam_Cation/H_exchanger - no_errors TMCO3 HGNC ENSG00000150403 152 0 0 56 4 6.66667 TMEM255B 0 genome.wustl.edu 37 13 114469097 114469097 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 13 114469097 114469097 C T SNP TMEM255B ENST00000375353 human ensembl 74_37 +1 known missense c.56 p.S19L 0.137 NULL NULL - no_errors TMEM255B HGNC ENSG00000184497 120 1 0.826446 87 31 26.2712 CDC16 0 genome.wustl.edu 37 13 115016110 115016110 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 13 115016110 115016110 C T SNP CDC16 ENST00000356221 human ensembl 74_37 +1 known missense c.1058 p.A353V 0.998 smart_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_2,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CDC16 HGNC ENSG00000130177 101 0 0 36 29 44.6154 PSPC1 0 genome.wustl.edu 37 13 20315777 20315777 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 13 20315777 20315777 C T SNP PSPC1 ENST00000338910 human ensembl 74_37 -1 known missense c.980 p.R327H 1.000 NULL pfam_RRM_dom,pfam_NOPS,smart_RRM_dom,pfscan_RRM_dom - no_errors PSPC1 HGNC ENSG00000121390 82 0 0 16 15 48.3871 GJA3 0 genome.wustl.edu 37 13 20716876 20716876 + Nonsense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 13 20716876 20716876 C T SNP GJA3 ENST00000241125 human ensembl 74_37 -1 known nonsense c.552 p.W184* 1.000 pfam_Connexin_CCC,prints_Connexin,prints_Connexin46 pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin46 - no_errors GJA3 HGNC ENSG00000121743 80 0 0 53 31 36.9048 XPO4 0 genome.wustl.edu 37 13 21382668 21382668 + Nonsense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 13 21382668 21382668 G A SNP XPO4 ENST00000255305 human ensembl 74_37 -1 known nonsense c.1546 p.Q516* 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors XPO4 HGNC ENSG00000132953 48 0 0 15 15 50 XPO4 0 genome.wustl.edu 37 13 21429891 21429891 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 13 21429891 21429891 C T SNP XPO4 ENST00000255305 human ensembl 74_37 -1 known missense c.331 p.V111I 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors XPO4 HGNC ENSG00000132953 126 0 0 37 24 39.3443 LATS2 0 genome.wustl.edu 37 13 21562928 21562928 + Missense_Mutation SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 13 21562928 21562928 G T SNP LATS2 ENST00000382592 human ensembl 74_37 -1 known missense c.991 p.L331M 0.001 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom - no_errors LATS2 HGNC ENSG00000150457 45 0 0 25 14 35.8974 LATS2 0 genome.wustl.edu 37 13 21563168 21563168 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 13 21563168 21563168 C T SNP LATS2 ENST00000382592 human ensembl 74_37 -1 known missense c.751 p.A251T 0.006 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom - no_errors LATS2 HGNC ENSG00000150457 19 0 0 8 4 33.3333 SACS 0 genome.wustl.edu 37 13 23905041 23905041 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 13 23905041 23905041 C T SNP SACS ENST00000382292 human ensembl 74_37 -1 known missense c.12974 p.R4325Q 1.000 superfamily_DnaJ_domain,pfscan_DnaJ_domain pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup - no_errors SACS HGNC ENSG00000151835 186 0 0 141 14 9.03226 CENPJ 0 genome.wustl.edu 37 13 25484017 25484017 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 13 25484017 25484017 G A SNP CENPJ ENST00000381884 human ensembl 74_37 -1 known missense c.776 p.A259V 0.090 NULL pfam_Tcp10_C_dom - no_errors CENPJ HGNC ENSG00000151849 87 0 0 42 24 36.3636 PAN3 0 genome.wustl.edu 37 13 28846132 28846132 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 13 28846132 28846132 G A SNP PAN3 ENST00000380958 human ensembl 74_37 +1 known missense c.1973 p.C658Y 1.000 superfamily_Kinase-like_dom,pfscan_Prot_kinase_dom superfamily_Kinase-like_dom,smart_Znf_CCCH,pfscan_Prot_kinase_dom - no_errors PAN3 HGNC ENSG00000152520 71 0 0 32 22 40.7407 MTUS2 0 genome.wustl.edu 37 13 30066788 30066788 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 13 30066788 30066788 A G SNP MTUS2 ENST00000431530 human ensembl 74_37 +1 known missense c.3541 p.M1181V 1.000 NULL NULL - no_errors MTUS2 HGNC ENSG00000132938 45 0 0 15 9 37.5 SLC7A1 0 genome.wustl.edu 37 13 30110247 30110247 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 13 30110247 30110247 G A SNP SLC7A1 ENST00000380752 human ensembl 74_37 -1 known missense c.79 p.R27W 1.000 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 100 0 0 61 4 6.15385 B3GALTL 0 genome.wustl.edu 37 13 31897899 31897899 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 13 31897899 31897899 G A SNP B3GALTL ENST00000343307 human ensembl 74_37 +1 known missense c.1196 p.S399N 1.000 pfam_Fringe-like pfam_Fringe-like - no_errors B3GALTL HGNC ENSG00000187676 195 0 0 93 69 42.5926 RXFP2 0 genome.wustl.edu 37 13 32366044 32366044 + Missense_Mutation SNP A A C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 13 32366044 32366044 A C SNP RXFP2 ENST00000298386 human ensembl 74_37 +1 known missense c.1247 p.N416T 0.999 prints_Gphrmn_rcpt_fam pfam_GPCR_Rhodpsn,pfam_Leu-rich_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Leu-rich_rpt_typical-subtyp,pfscan_LDrepeatLR_classA_rpt,pfscan_GPCR_Rhodpsn_7TM,prints_Relaxin_rcpt,prints_GPCR_Rhodpsn,prints_Gphrmn_rcpt_fam - no_errors RXFP2 HGNC ENSG00000133105 80 0 0 34 17 33.3333 FRY 0 genome.wustl.edu 37 13 32759208 32759208 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 13 32759208 32759208 A G SNP FRY ENST00000380250 human ensembl 74_37 +1 known missense c.3242 p.D1081G 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FRY HGNC ENSG00000073910 152 0 0 62 41 39.8058 FRY 0 genome.wustl.edu 37 13 32839600 32839600 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 13 32839600 32839600 G A SNP FRY ENST00000380250 human ensembl 74_37 +1 known missense c.7793 p.R2598H 0.001 NULL superfamily_ARM-type_fold - no_errors FRY HGNC ENSG00000073910 90 0 0 33 20 37.7358 FREM2 0 genome.wustl.edu 37 13 39265389 39265389 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 13 39265389 39265389 C T SNP FREM2 ENST00000280481 human ensembl 74_37 +1 known missense c.3908 p.T1303M 1.000 superfamily_Cadherin-like pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM2 HGNC ENSG00000150893 191 0 0 114 6 5 WBP4 0 genome.wustl.edu 37 13 41656921 41656921 + Silent SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 13 41656921 41656921 A G SNP WBP4 ENST00000379487 human ensembl 74_37 +1 known silent c.1002 p.K334 1.000 NULL pfam_WW_dom,pfam_Znf_U1-C,superfamily_WW_dom,smart_Znf_U1,smart_WW_dom,pfscan_WW_dom,pfscan_Znf_C2H2_matrin - no_errors WBP4 HGNC ENSG00000120688 73 0 0 34 21 38.1818 TNFSF11 0 genome.wustl.edu 37 13 43180821 43180821 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 13 43180821 43180821 T C SNP TNFSF11 ENST00000239849 human ensembl 74_37 +1 known missense c.721 p.Y241H 1.000 pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pirsf_TNF_ligand_10/11,pfscan_TNF_dom pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pirsf_TNF_ligand_10/11,pfscan_TNF_dom - no_errors TNFSF11 HGNC ENSG00000120659 109 0 0 46 40 46.5116 CCDC122 0 genome.wustl.edu 37 13 44434096 44434096 + Silent SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 13 44434096 44434096 A G SNP CCDC122 ENST00000281508 human ensembl 74_37 -1 known silent c.267 p.H89 0.471 NULL NULL - no_errors CCDC122 HGNC ENSG00000151773 62 0 0 25 10 28.5714 SPERT 0 genome.wustl.edu 37 13 46287328 46287328 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 13 46287328 46287328 C T SNP SPERT ENST00000310521 human ensembl 74_37 +1 known silent c.168 p.A56 0.848 NULL NULL - no_errors SPERT HGNC ENSG00000174015 45 0 0 22 15 40.5405 ZC3H13 0 genome.wustl.edu 37 13 46542050 46542050 + Nonsense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 13 46542050 46542050 G A SNP ZC3H13 ENST00000242848 human ensembl 74_37 -1 known nonsense c.3910 p.R1304* 0.991 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H13 HGNC ENSG00000123200 167 0 0 66 22 25 MED4 0 genome.wustl.edu 37 13 48651317 48651317 + Silent SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 13 48651317 48651317 A G SNP MED4 ENST00000258648 human ensembl 74_37 -1 known silent c.771 p.I257 1.000 NULL pfam_Mediator_Med4 - no_errors MED4 HGNC ENSG00000136146 71 0 0 33 21 38.8889 LPAR6 0 genome.wustl.edu 37 13 48986379 48986379 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 13 48986379 48986379 T C SNP LPAR6 ENST00000345941 human ensembl 74_37 -1 known missense c.181 p.M61V 0.999 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors LPAR6 HGNC ENSG00000139679 81 0 0 44 3 6.38298 THSD1 0 genome.wustl.edu 37 13 52972005 52972005 + Missense_Mutation SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 13 52972005 52972005 G T SNP THSD1 ENST00000258613 human ensembl 74_37 -1 known missense c.383 p.P128H 0.999 NULL pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD1 HGNC ENSG00000136114 143 0 0 51 30 37.037 HNRNPA1L2 0 genome.wustl.edu 37 13 53217089 53217089 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 13 53217089 53217089 C T SNP HNRNPA1L2 ENST00000342657 human ensembl 74_37 +1 known silent c.462 p.D154 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,pfam_HnRNPA1,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPA1L2 HGNC ENSG00000139675 117 0 0 57 29 33.7209 PCDH17 0 genome.wustl.edu 37 13 58240906 58240906 + Missense_Mutation SNP G G C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 13 58240906 58240906 G C SNP PCDH17 ENST00000377918 human ensembl 74_37 +1 known missense c.2736 p.M912I 1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH17 HGNC ENSG00000118946 66 0 0 31 20 39.2157 TDRD3 0 genome.wustl.edu 37 13 61109406 61109406 + RNA SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 13 61109406 61109406 T C SNP TDRD3 ENST00000471710 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors TDRD3 HGNC ENSG00000083544 48 0 0 13 16 55.1724 BORA 0 genome.wustl.edu 37 13 73320157 73320157 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 13 73320157 73320157 A G SNP BORA ENST00000390667 human ensembl 74_37 +1 known missense c.814 p.I272V 0.001 NULL prints_Aurora_borealis_protien - no_errors BORA HGNC ENSG00000136122 113 0 0 56 19 25.3333 BORA 0 genome.wustl.edu 37 13 73320842 73320842 + Missense_Mutation SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 13 73320842 73320842 G T SNP BORA ENST00000390667 human ensembl 74_37 +1 known missense c.1075 p.G359C 0.074 NULL prints_Aurora_borealis_protien - no_errors BORA HGNC ENSG00000136122 148 0 0 63 43 40.566 MYCBP2 0 genome.wustl.edu 37 13 77664391 77664391 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 13 77664391 77664391 T C SNP MYCBP2 ENST00000407578 human ensembl 74_37 -1 known missense c.10375 p.T3459A 1.000 superfamily_ARM-type_fold pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_RCC1/BLIP-II,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors MYCBP2 HGNC ENSG00000005810 83 0 0 27 12 30.7692 SCEL 0 genome.wustl.edu 37 13 78130014 78130014 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 13 78130014 78130014 T C SNP SCEL ENST00000349847 human ensembl 74_37 +1 known missense c.4 p.S2P 1.000 NULL smart_Znf_LIM,pfscan_Znf_LIM - no_errors SCEL HGNC ENSG00000136155 61 0 0 22 10 31.25 SLITRK1 0 genome.wustl.edu 37 13 84454996 84454996 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 13 84454996 84454996 C T SNP SLITRK1 ENST00000377084 human ensembl 74_37 -1 known missense c.647 p.C216Y 1.000 smart_Cys-rich_flank_reg_C pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK1 HGNC ENSG00000178235 77 0 0 45 21 31.8182 GPC5 0 genome.wustl.edu 37 13 92408615 92408615 + Silent SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 13 92408615 92408615 T C SNP GPC5 ENST00000377067 human ensembl 74_37 +1 known silent c.1221 p.A407 0.918 pfam_Glypican pfam_Glypican - no_errors GPC5 HGNC ENSG00000179399 116 0 0 55 15 21.4286 DCT 0 genome.wustl.edu 37 13 95121135 95121135 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 13 95121135 95121135 G A SNP DCT ENST00000446125 human ensembl 74_37 -1 known missense c.460 p.P154S 1.000 superfamily_Unchr_di-copper_centre pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase - no_errors DCT HGNC ENSG00000080166 268 0 0 175 90 33.9623 ABCC4 0 genome.wustl.edu 37 13 95813534 95813534 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 13 95813534 95813534 G A SNP ABCC4 ENST00000376887 human ensembl 74_37 -1 known silent c.2364 p.Y788 0.734 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_CysFib_conduc_TM - no_errors ABCC4 HGNC ENSG00000125257 78 0 0 16 16 50 ABCC4 0 genome.wustl.edu 37 13 95860172 95860172 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 13 95860172 95860172 T C SNP ABCC4 ENST00000376887 human ensembl 74_37 -1 known missense c.793 p.T265A 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom,prints_CysFib_conduc_TM pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_CysFib_conduc_TM - no_errors ABCC4 HGNC ENSG00000125257 101 0 0 38 35 47.9452 MBNL2 0 genome.wustl.edu 37 13 98009806 98009806 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 13 98009806 98009806 C T SNP MBNL2 ENST00000376673 human ensembl 74_37 +1 known missense c.875 p.A292V 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors MBNL2 HGNC ENSG00000139793 126 0 0 90 41 31.2977 RNF113B 0 genome.wustl.edu 37 13 98828627 98828627 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 13 98828627 98828627 C T SNP RNF113B ENST00000267291 human ensembl 74_37 -1 known silent c.864 p.P288 1.000 smart_Znf_RING,pfscan_Znf_RING pfam_Znf_CCCH,smart_Znf_CCCH,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF113B HGNC ENSG00000139797 151 0 0 85 56 39.7163 RNF113B 0 genome.wustl.edu 37 13 98829348 98829348 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 13 98829348 98829348 C T SNP RNF113B ENST00000267291 human ensembl 74_37 -1 known missense c.143 p.S48N 0.004 NULL pfam_Znf_CCCH,smart_Znf_CCCH,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF113B HGNC ENSG00000139797 23 0 0 28 8 22.2222 EML1 0 genome.wustl.edu 37 14 100377764 100377764 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 14 100377764 100377764 A G SNP EML1 ENST00000334192 human ensembl 74_37 +1 known missense c.1402 p.N468D 1.000 superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_HELP,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML1 HGNC ENSG00000066629 109 0 0 43 45 51.1364 RTL1 0 genome.wustl.edu 37 14 101347477 101347477 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 14 101347477 101347477 T C SNP RTL1 ENST00000534062 human ensembl 74_37 -1 known missense c.3649 p.N1217D 0.000 NULL pfam_Retrotrans_gag_dom,superfamily_Peptidase_aspartic_dom - no_errors RTL1 HGNC ENSG00000254656 14 0 0 5 4 44.4444 DYNC1H1 0 genome.wustl.edu 37 14 102505979 102505979 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 14 102505979 102505979 C T SNP DYNC1H1 ENST00000360184 human ensembl 74_37 +1 known missense c.11600 p.A3867V 0.974 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase - no_errors DYNC1H1 HGNC ENSG00000197102 208 0 0 170 14 7.6087 TECPR2 0 genome.wustl.edu 37 14 102918789 102918789 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 14 102918789 102918789 C T SNP TECPR2 ENST00000359520 human ensembl 74_37 +1 known silent c.3465 p.S1155 0.002 superfamily_RCC1/BLIP-II pfam_Beta-propeller_rpt_TECPR,superfamily_WD40_repeat_dom,superfamily_RCC1/BLIP-II,smart_WD40_repeat,smart_Beta-propeller_rpt_TECPR - no_errors TECPR2 HGNC ENSG00000196663 44 0 0 34 6 15 RCOR1 0 genome.wustl.edu 37 14 103174911 103174911 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 14 103174911 103174911 G A SNP RCOR1 ENST00000262241 human ensembl 74_37 +1 known missense c.770 p.R257Q 0.995 NULL pfam_SANT/Myb,pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom,prints_Antifreeze_1 - no_errors RCOR1 HGNC ENSG00000089902 151 0 0 92 75 44.9102 TRAF3 0 genome.wustl.edu 37 14 103372097 103372097 + Silent SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 14 103372097 103372097 T C SNP TRAF3 ENST00000392745 human ensembl 74_37 +1 known silent c.1683 p.D561 1.000 pfam_MATH,superfamily_TRAF-like,pirsf_TNF_rcpt--assoc_TRAF pfam_MATH,superfamily_TRAF-like,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH,pfscan_Znf_RING,pfscan_Znf_TRAF - no_errors TRAF3 HGNC ENSG00000131323 49 0 0 29 17 36.9565 CDC42BPB 0 genome.wustl.edu 37 14 103449935 103449935 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 14 103449935 103449935 C T SNP CDC42BPB ENST00000361246 human ensembl 74_37 -1 known silent c.849 p.A283 0.056 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_Citron,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_CRIB_dom,pfscan_CRIB_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd - no_errors CDC42BPB HGNC ENSG00000198752 84 0 0 84 6 6.66667 EIF5 0 genome.wustl.edu 37 14 103803104 103803104 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 14 103803104 103803104 C T SNP EIF5 ENST00000216554 human ensembl 74_37 +1 known missense c.245 p.A82V 1.000 pfam_Transl_init_fac_IF2/IF5,superfamily_Transl_init_fac_IF2/IF5_N,smart_Transl_init_fac_IF2/IF5 pfam_Transl_init_fac_IF2/IF5,pfam_W2_domain,superfamily_ARM-type_fold,superfamily_Transl_init_fac_IF2/IF5_N,superfamily_Transl_init_fac_IF2/IF5_Zn-bd,smart_Transl_init_fac_IF2/IF5,smart_W2_domain - no_errors EIF5 HGNC ENSG00000100664 93 0 0 33 36 52.1739 CEP170B 0 genome.wustl.edu 37 14 105353975 105353975 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 14 105353975 105353975 C T SNP CEP170B ENST00000453495 human ensembl 74_37 +1 known silent c.3402 p.D1134 0.019 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors CEP170B HGNC ENSG00000099814 9 0 0 7 5 41.6667 AHNAK2 0 genome.wustl.edu 37 14 105404879 105404879 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 14 105404879 105404879 G A SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known missense c.16909 p.P5637S 0.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 29 0 0 14 8 36.3636 BTBD6 0 genome.wustl.edu 37 14 105716119 105716119 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 14 105716119 105716119 G A SNP BTBD6 ENST00000392554 human ensembl 74_37 +1 known missense c.568 p.V190I 1.000 smart_BACK pfam_PHR,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors BTBD6 HGNC ENSG00000184887 50 0 0 29 23 44.2308 TEP1 0 genome.wustl.edu 37 14 20841863 20841863 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 14 20841863 20841863 C T SNP TEP1 ENST00000262715 human ensembl 74_37 -1 known missense c.6578 p.C2193Y 0.979 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_TROVE,pfam_TEP1_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pfscan_NACHT_NTPase,pfscan_TROVE,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TEP1 HGNC ENSG00000129566 75 0 0 43 38 46.9136 RNASE2 0 genome.wustl.edu 37 14 21424363 21424363 + Nonsense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 14 21424363 21424363 C T SNP RNASE2 ENST00000304625 human ensembl 74_37 +1 known nonsense c.433 p.R145* 0.000 pfam_RNaseA_domain,superfamily_RNaseA_domain,smart_RNaseA_domain pfam_RNaseA_domain,superfamily_RNaseA_domain,smart_RNaseA_domain,prints_RNaseA - no_errors RNASE2 HGNC ENSG00000169385 165 0 0 75 51 40.4762 ARHGEF40 0 genome.wustl.edu 37 14 21542374 21542374 + Missense_Mutation SNP T T G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 14 21542374 21542374 T G SNP ARHGEF40 ENST00000298694 human ensembl 74_37 +1 known missense c.485 p.L162R 1.000 NULL pfam_DH-domain,superfamily_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF40 HGNC ENSG00000165801 85 0 0 54 16 22.8571 ARHGEF40 0 genome.wustl.edu 37 14 21549845 21549845 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 14 21549845 21549845 C T SNP ARHGEF40 ENST00000298694 human ensembl 74_37 +1 known missense c.2818 p.R940C 1.000 NULL pfam_DH-domain,superfamily_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF40 HGNC ENSG00000165801 17 0 0 11 3 21.4286 ARHGEF40 0 genome.wustl.edu 37 14 21549929 21549929 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 14 21549929 21549929 C T SNP ARHGEF40 ENST00000298694 human ensembl 74_37 +1 known missense c.2902 p.R968W 0.782 NULL pfam_DH-domain,superfamily_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF40 HGNC ENSG00000165801 13 0 0 7 13 65 CHD8 0 genome.wustl.edu 37 14 21896109 21896109 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 14 21896109 21896109 G A SNP CHD8 ENST00000399982 human ensembl 74_37 -1 known missense c.1520 p.A507V 0.990 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_BRK_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD8 HGNC ENSG00000100888 71 0 0 48 29 37.6623 TOX4 0 genome.wustl.edu 37 14 21960775 21960775 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 14 21960775 21960775 C T SNP TOX4 ENST00000262709 human ensembl 74_37 +1 known missense c.1000 p.P334S 1.000 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors TOX4 HGNC ENSG00000092203 199 0 0 68 54 44.2623 PSMB11 0 genome.wustl.edu 37 14 23511636 23511636 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 14 23511636 23511636 C T SNP PSMB11 ENST00000408907 human ensembl 74_37 +1 known missense c.202 p.R68C 0.977 pfam_Proteasome_sua/b,prints_Pept_T1A_subB pfam_Proteasome_sua/b,prints_Pept_T1A_subB - no_errors PSMB11 HGNC ENSG00000222028 101 0 0 52 35 40.2299 MYH6 0 genome.wustl.edu 37 14 23853810 23853810 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 14 23853810 23853810 G A SNP MYH6 ENST00000356287 human ensembl 74_37 -1 known silent c.5406 p.A1802 0.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH6 HGNC ENSG00000197616 142 0 0 133 8 5.67376 LRRC16B 0 genome.wustl.edu 37 14 24529193 24529193 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 14 24529193 24529193 G A SNP LRRC16B ENST00000342740 human ensembl 74_37 +1 known missense c.1883 p.R628H 1.000 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC16B HGNC ENSG00000186648 150 0 0 135 18 11.7647 TSSK4 0 genome.wustl.edu 37 14 24676542 24676542 + Nonsense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 14 24676542 24676542 C T SNP TSSK4 ENST00000339917 human ensembl 74_37 +1 known nonsense c.661 p.R221* 0.998 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 TSSK4 HGNC ENSG00000139908 155 0 0 66 55 45.4545 TINF2 0 genome.wustl.edu 37 14 24709992 24709992 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 14 24709992 24709992 G A SNP TINF2 ENST00000267415 human ensembl 74_37 -1 known missense c.694 p.P232S 0.924 NULL NULL - no_errors TINF2 HGNC ENSG00000092330 113 0 0 98 6 5.76923 TGM1 0 genome.wustl.edu 37 14 24724429 24724429 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 14 24724429 24724429 G A SNP TGM1 ENST00000206765 human ensembl 74_37 -1 known missense c.1676 p.T559I 0.992 NULL pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM1 HGNC ENSG00000092295 125 0 0 49 36 42.3529 NYNRIN 0 genome.wustl.edu 37 14 24878156 24878156 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 14 24878156 24878156 G A SNP NYNRIN ENST00000382554 human ensembl 74_37 +1 known missense c.1156 p.A386T 0.961 NULL pfam_RNase_Zc3h12,superfamily_RNaseH-like_dom,pfscan_Integrase_cat-core - no_errors NYNRIN HGNC ENSG00000205978 31 0 0 21 8 27.5862 GZMH 0 genome.wustl.edu 37 14 25075937 25075937 + Missense_Mutation SNP G G C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 14 25075937 25075937 G C SNP GZMH ENST00000216338 human ensembl 74_37 -1 known missense c.613 p.P205A 0.932 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors GZMH HGNC ENSG00000100450 107 0 0 43 31 41.8919 GZMB 0 genome.wustl.edu 37 14 25102239 25102239 + Missense_Mutation SNP G G C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 14 25102239 25102239 G C SNP GZMB ENST00000382542 human ensembl 74_37 -1 known missense c.187 p.P63A 0.987 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 GZMB HGNC ENSG00000100453 163 0 0 123 13 9.55882 NOVA1 0 genome.wustl.edu 37 14 26917784 26917784 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 14 26917784 26917784 G A SNP NOVA1 ENST00000539517 human ensembl 74_37 -1 known missense c.905 p.A302V 1.000 NULL pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors NOVA1 HGNC ENSG00000139910 57 0 0 40 7 14.8936 STRN3 0 genome.wustl.edu 37 14 31416424 31416424 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 14 31416424 31416424 C T SNP STRN3 ENST00000357479 human ensembl 74_37 -1 known silent c.588 p.R196 0.999 pfam_Striatin_N pfam_Striatin_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors STRN3 HGNC ENSG00000196792 86 0 0 40 28 41.1765 HECTD1 0 genome.wustl.edu 37 14 31575967 31575967 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 14 31575967 31575967 G A SNP HECTD1 ENST00000399332 human ensembl 74_37 -1 known missense c.7111 p.R2371C 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_Sad1_UNC_C,pfam_Mib_Herc2,pfam_Ankyrin_rpt,superfamily_HECT,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,superfamily_Galactose-bd-like,smart_Ankyrin_rpt,smart_HECT,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_HECT - no_errors HECTD1 HGNC ENSG00000092148 76 0 0 24 23 48.9362 HEATR5A 0 genome.wustl.edu 37 14 31795515 31795515 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 14 31795515 31795515 G A SNP HEATR5A ENST00000389961 human ensembl 74_37 -1 known missense c.3383 p.A1128V 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR5A HGNC ENSG00000129493 106 0 0 47 25 34.7222 AKAP6 0 genome.wustl.edu 37 14 33015768 33015768 + Missense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 14 33015768 33015768 C A SNP AKAP6 ENST00000280979 human ensembl 74_37 +1 known missense c.1909 p.L637I 1.000 NULL smart_Spectrin/alpha-actinin - no_errors AKAP6 HGNC ENSG00000151320 101 0 0 34 23 40.3509 AKAP6 0 genome.wustl.edu 37 14 33165210 33165210 + Missense_Mutation SNP A A T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 14 33165210 33165210 A T SNP AKAP6 ENST00000280979 human ensembl 74_37 +1 known missense c.2894 p.D965V 1.000 smart_Spectrin/alpha-actinin smart_Spectrin/alpha-actinin - no_errors AKAP6 HGNC ENSG00000151320 70 0 0 21 11 34.375 SSTR1 0 genome.wustl.edu 37 14 38679608 38679608 + Silent SNP A A T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 14 38679608 38679608 A T SNP SSTR1 ENST00000267377 human ensembl 74_37 +1 known silent c.1014 p.L338 0.977 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Somatstn_rcpt_1,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt,prints_Opioid_rcpt,prints_NPY_rcpt,prints_Neuropept_B/W_rcpt - no_errors SSTR1 HGNC ENSG00000139874 140 0 0 77 39 33.6207 PNN 0 genome.wustl.edu 37 14 39650122 39650122 + Missense_Mutation SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 14 39650122 39650122 G T SNP PNN ENST00000216832 human ensembl 74_37 +1 known missense c.1209 p.Q403H 1.000 NULL pfam_Pinin_SDK_N,pfam_Pinin_SDK_MemA - no_errors PNN HGNC ENSG00000100941 92 0 0 29 30 50.8475 PNN 0 genome.wustl.edu 37 14 39650888 39650888 + Nonsense_Mutation SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 14 39650888 39650888 G T SNP PNN ENST00000216832 human ensembl 74_37 +1 known nonsense c.1975 p.G659* 1.000 NULL pfam_Pinin_SDK_N,pfam_Pinin_SDK_MemA - no_errors PNN HGNC ENSG00000100941 88 0 0 62 34 35.4167 MDGA2 0 genome.wustl.edu 37 14 47311144 47311144 + Missense_Mutation SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 14 47311144 47311144 G T SNP MDGA2 ENST00000439988 human ensembl 74_37 -1 known missense c.3068 p.P1023H 1.000 NULL pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_MAM_dom,pfscan_Ig-like_dom - no_errors MDGA2 Uniprot_gn ENSG00000272781 47 0 0 24 9 27.2727 NIN 0 genome.wustl.edu 37 14 51202298 51202298 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 14 51202298 51202298 G A SNP NIN ENST00000245441 human ensembl 74_37 -1 known missense c.5813 p.T1938I 1.000 NULL superfamily_tRNA-bd_arm,pfscan_EF_hand_dom - no_errors NIN HGNC ENSG00000100503 43 0 0 24 6 20 TRIM9 0 genome.wustl.edu 37 14 51560960 51560960 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 14 51560960 51560960 T C SNP TRIM9 ENST00000338969 human ensembl 74_37 -1 known missense c.698 p.E233G 1.000 pfam_Znf_B-box,smart_Znf_B-box,pfscan_Znf_B-box pfam_SPRY_rcpt,pfam_Fibronectin_type3,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM9 HGNC ENSG00000100505 69 0 0 32 27 45.7627 TRIM9 0 genome.wustl.edu 37 14 51561225 51561225 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 14 51561225 51561225 A G SNP TRIM9 ENST00000338969 human ensembl 74_37 -1 known missense c.433 p.F145L 1.000 NULL pfam_SPRY_rcpt,pfam_Fibronectin_type3,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM9 HGNC ENSG00000100505 24 0 0 19 11 36.6667 SLC35F4 0 genome.wustl.edu 37 14 58033243 58033243 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 14 58033243 58033243 T C SNP SLC35F4 ENST00000339762 human ensembl 74_37 -1 known missense c.1274 p.Y425C 1.000 NULL pfam_DMT,pfam_SLC35_F1/F2/F6 - no_errors SLC35F4 HGNC ENSG00000151812 15 0 0 14 5 26.3158 SLC38A6 0 genome.wustl.edu 37 14 61451485 61451485 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 14 61451485 61451485 T C SNP SLC38A6 ENST00000354886 human ensembl 74_37 +1 known missense c.274 p.S92P 1.000 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC38A6 HGNC ENSG00000139974 104 1 0.952381 61 22 26.506 SYNE2 0 genome.wustl.edu 37 14 64596551 64596551 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 14 64596551 64596551 A G SNP SYNE2 ENST00000358025 human ensembl 74_37 +1 known missense c.14071 p.K4691E 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 81 0 0 82 7 7.86517 SYNE2 0 genome.wustl.edu 37 14 64675598 64675598 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 14 64675598 64675598 G A SNP SYNE2 ENST00000358025 human ensembl 74_37 +1 known silent c.18324 p.Q6108 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin 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 57 0 0 37 22 37.2881 HSPA2 0 genome.wustl.edu 37 14 65008542 65008542 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 14 65008542 65008542 C T SNP HSPA2 ENST00000247207 human ensembl 74_37 +1 known silent c.975 p.R325 1.000 pfam_Hsp_70_fam,pfam_MreB_Mrl pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA2 HGNC ENSG00000126803 67 0 0 42 23 35.3846 PLEKHG3 0 genome.wustl.edu 37 14 65209941 65209941 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 14 65209941 65209941 C T SNP PLEKHG3 ENST00000394691 human ensembl 74_37 +1 known silent c.3180 p.R1060 0.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG3 HGNC ENSG00000126822 106 0 0 45 41 47.6744 SPTB 0 genome.wustl.edu 37 14 65260266 65260266 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 14 65260266 65260266 C T SNP SPTB ENST00000389722 human ensembl 74_37 -1 known silent c.2115 p.A705 0.000 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Pleckstrin_homology,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTB HGNC ENSG00000070182 52 0 0 39 12 23.5294 TMEM229B 0 genome.wustl.edu 37 14 67940463 67940463 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 14 67940463 67940463 C T SNP TMEM229B ENST00000357461 human ensembl 74_37 -1 known missense c.178 p.V60M 1.000 pfam_DUF1113_TMEM229 pfam_DUF1113_TMEM229 - no_errors TMEM229B HGNC ENSG00000198133 35 0 0 14 9 39.1304 PLEKHH1 0 genome.wustl.edu 37 14 68046484 68046484 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 14 68046484 68046484 G A SNP PLEKHH1 ENST00000329153 human ensembl 74_37 +1 known missense c.3074 p.R1025Q 1.000 smart_Band_41_domain,pfscan_FERM_domain pfam_Pleckstrin_homology,pfam_MyTH4_dom,pfam_FERM_central,superfamily_FERM_central,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology - no_errors PLEKHH1 HGNC ENSG00000054690 24 0 0 16 7 30.4348 ZFYVE26 0 genome.wustl.edu 37 14 68251918 68251918 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 14 68251918 68251918 C T SNP ZFYVE26 ENST00000347230 human ensembl 74_37 -1 known silent c.3381 p.V1127 0.387 NULL pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors ZFYVE26 HGNC ENSG00000072121 81 0 0 63 8 11.2676 SRSF5 0 genome.wustl.edu 37 14 70237973 70237973 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 14 70237973 70237973 G A SNP SRSF5 ENST00000394366 human ensembl 74_37 +1 novel missense c.614 p.R205H 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SRSF5 HGNC ENSG00000100650 157 0 0 117 15 11.3636 SMOC1 0 genome.wustl.edu 37 14 70459178 70459178 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 14 70459178 70459178 T C SNP SMOC1 ENST00000361956 human ensembl 74_37 +1 known missense c.571 p.F191L 0.955 NULL pfam_Thyroglobulin_1,pfam_SPARC/Testican_Ca-bd-dom,pfam_Kazal_dom,superfamily_Thyroglobulin_1,smart_Kazal_dom,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1 - no_errors SMOC1 HGNC ENSG00000198732 52 0 0 27 20 42.5532 SMOC1 0 genome.wustl.edu 37 14 70477655 70477655 + Silent SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 14 70477655 70477655 C A SNP SMOC1 ENST00000361956 human ensembl 74_37 +1 known silent c.849 p.T283 0.955 pfam_Thyroglobulin_1,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1 pfam_Thyroglobulin_1,pfam_SPARC/Testican_Ca-bd-dom,pfam_Kazal_dom,superfamily_Thyroglobulin_1,smart_Kazal_dom,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1 - no_errors SMOC1 HGNC ENSG00000198732 81 0 0 20 21 51.2195 PCNX 0 genome.wustl.edu 37 14 71570119 71570119 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 14 71570119 71570119 A G SNP PCNX ENST00000304743 human ensembl 74_37 +1 known missense c.5828 p.K1943R 1.000 pfam_Pecanex pfam_Pecanex - no_errors PCNX HGNC ENSG00000100731 81 0 0 30 22 42.3077 SIPA1L1 0 genome.wustl.edu 37 14 72190597 72190597 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 14 72190597 72190597 C T SNP SIPA1L1 ENST00000555818 human ensembl 74_37 +1 known missense c.4505 p.T1502M 1.000 NULL pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L1 HGNC ENSG00000197555 96 0 0 71 23 24.4681 ZFYVE1 0 genome.wustl.edu 37 14 73437631 73437631 + Nonsense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 14 73437631 73437631 G A SNP ZFYVE1 ENST00000553891 human ensembl 74_37 -1 known nonsense c.2293 p.R765* 1.000 pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,superfamily_P-loop_NTPase,superfamily_Growth_fac_rcpt_N_dom,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors ZFYVE1 HGNC ENSG00000165861 102 0 0 69 32 31.6832 PAPLN 0 genome.wustl.edu 37 14 73718770 73718770 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 14 73718770 73718770 C T SNP PAPLN ENST00000427855 human ensembl 74_37 +1 known silent c.888 p.H296 1.000 pfam_ADAM_spacer1 pfam_Ig_I-set,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Prot_inh_Kunz-m,pfam_PLAC,superfamily_Prot_inh_Kunz-m,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Prot_inh_Kunz-m,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Prot_inh_Kunz-m,pfscan_Ig-like_dom,prints_Peptidase_M12B_ADAM-TS,prints_Prot_inh_Kunz-m - no_errors PAPLN HGNC ENSG00000100767 55 0 0 22 7 24.1379 PNMA1 0 genome.wustl.edu 37 14 74179976 74179976 + Missense_Mutation SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 14 74179976 74179976 G T SNP PNMA1 ENST00000316836 human ensembl 74_37 -1 known missense c.367 p.L123I 1.000 NULL superfamily_Globin-like - no_errors PNMA1 HGNC ENSG00000176903 161 0 0 116 12 9.375 COQ6 0 genome.wustl.edu 37 14 74417141 74417141 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 14 74417141 74417141 T C SNP COQ6 ENST00000334571 human ensembl 74_37 +1 known missense c.106 p.Y36H 1.000 tigrfam_UbQ_biosynth_mOase pfam_mOase_FAD-bd,prints_Rng_hydrolase-like,tigrfam_UbQ_biosynth_mOase,tigrfam_Ubi_Hdrxlases - no_errors COQ6 HGNC ENSG00000119723 20 0 0 10 3 23.0769 VRTN 0 genome.wustl.edu 37 14 74823989 74823989 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 14 74823989 74823989 G A SNP VRTN ENST00000256362 human ensembl 74_37 +1 known missense c.503 p.S168N 0.875 NULL pfam_Transposase_8 - no_errors VRTN HGNC ENSG00000133980 113 0 0 82 8 8.88889 FLVCR2 0 genome.wustl.edu 37 14 76108206 76108206 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 14 76108206 76108206 C T SNP FLVCR2 ENST00000238667 human ensembl 74_37 +1 known missense c.1474 p.R492W 0.997 superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,superfamily_Trimer_LpxA-like,pfscan_MFS_dom - no_errors FLVCR2 HGNC ENSG00000119686 106 0 0 48 31 39.2405 TGFB3 0 genome.wustl.edu 37 14 76427394 76427394 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 14 76427394 76427394 G A SNP TGFB3 ENST00000238682 human ensembl 74_37 -1 known missense c.952 p.R318C 1.000 pirsf_TGF-beta,pfam_TGF-b_C,smart_TGF-b_C pirsf_TGF-beta,pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C,prints_Transform_grow_fac_b3,prints_TGF-beta - no_errors TGFB3 HGNC ENSG00000119699 100 0 0 72 7 8.86076 TGFB3 0 genome.wustl.edu 37 14 76437525 76437525 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 14 76437525 76437525 G A SNP TGFB3 ENST00000238682 human ensembl 74_37 -1 known missense c.590 p.A197V 0.018 pirsf_TGF-beta,pfam_TGF-b_N,prints_TGF-beta pirsf_TGF-beta,pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C,prints_Transform_grow_fac_b3,prints_TGF-beta - no_errors TGFB3 HGNC ENSG00000119699 109 0 0 66 30 31.25 ISM2 0 genome.wustl.edu 37 14 77942189 77942189 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 14 77942189 77942189 C T SNP ISM2 ENST00000342219 human ensembl 74_37 -1 known missense c.1465 p.A489T 0.986 pfam_AMOP,smart_AMOP,pfscan_AMOP pfam_AMOP,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_AMOP,pfscan_AMOP,pfscan_Thrombospondin_1_rpt - no_errors ISM2 HGNC ENSG00000100593 55 0 0 29 36 55.3846 TSHR 0 genome.wustl.edu 37 14 81421933 81421933 + RNA SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 14 81421933 81421933 C T SNP TSHR ENST00000557096 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors TSHR HGNC ENSG00000165409 44 0 0 23 27 54 PTPN21 0 genome.wustl.edu 37 14 88946100 88946100 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 14 88946100 88946100 G A SNP PTPN21 ENST00000328736 human ensembl 74_37 -1 known missense c.1675 p.R559W 0.997 pirsf_Tyr_Pase_non-rcpt_typ-14/21 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,superfamily_FERM_central,smart_Band_41_domain,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam - no_errors PTPN21 HGNC ENSG00000070778 28 0 0 30 22 42.3077 KCNK13 0 genome.wustl.edu 37 14 90650906 90650906 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 14 90650906 90650906 C T SNP KCNK13 ENST00000282146 human ensembl 74_37 +1 known silent c.786 p.F262 0.257 pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl_THIK,prints_2pore_dom_K_chnl_TASK pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl_THIK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TASK - no_errors KCNK13 HGNC ENSG00000152315 129 0 0 56 27 32.5301 NRDE2 0 genome.wustl.edu 37 14 90755331 90755331 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 14 90755331 90755331 C T SNP NRDE2 ENST00000354366 human ensembl 74_37 -1 known silent c.2388 p.T796 0.001 NULL pfam_NRDE-2 - no_errors NRDE2 HGNC ENSG00000119720 178 0 0 89 68 43.3121 NRDE2 0 genome.wustl.edu 37 14 90759111 90759111 + Missense_Mutation SNP T T G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 14 90759111 90759111 T G SNP NRDE2 ENST00000354366 human ensembl 74_37 -1 known missense c.1772 p.H591P 1.000 NULL pfam_NRDE-2 - no_errors NRDE2 HGNC ENSG00000119720 198 1 0.502513 129 71 35.5 CCDC88C 0 genome.wustl.edu 37 14 91806344 91806344 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 14 91806344 91806344 A G SNP CCDC88C ENST00000389857 human ensembl 74_37 -1 known missense c.508 p.F170L 1.000 pfam_Hook-related_fam pfam_Hook-related_fam,superfamily_Prefoldin,superfamily_Fum_Rdtase/Succ_DH_flav-like_C - no_errors CCDC88C HGNC ENSG00000015133 14 0 0 10 7 41.1765 BTBD7 0 genome.wustl.edu 37 14 93717918 93717918 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 14 93717918 93717918 C T SNP BTBD7 ENST00000334746 human ensembl 74_37 -1 known silent c.1833 p.T611 0.114 NULL pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors BTBD7 HGNC ENSG00000011114 212 0 0 142 15 9.55414 PPP4R4 0 genome.wustl.edu 37 14 94722808 94722808 + Missense_Mutation SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 14 94722808 94722808 G T SNP PPP4R4 ENST00000304338 human ensembl 74_37 +1 known missense c.1877 p.C626F 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors PPP4R4 HGNC ENSG00000119698 44 0 0 14 4 22.2222 SERPINA11 0 genome.wustl.edu 37 14 94909415 94909415 + Missense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 14 94909415 94909415 C A SNP SERPINA11 ENST00000334708 human ensembl 74_37 -1 known missense c.1065 p.K355N 1.000 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINA11 HGNC ENSG00000186910 170 0 0 74 46 38.3333 SERPINA4 0 genome.wustl.edu 37 14 95030431 95030431 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 14 95030431 95030431 C T SNP SERPINA4 ENST00000298841 human ensembl 74_37 +1 known silent c.612 p.D204 0.000 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINA4 HGNC ENSG00000100665 175 1 0.568182 109 18 14.1732 SERPINA13P 0 genome.wustl.edu 37 14 95108162 95108162 + RNA SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 14 95108162 95108162 G T SNP SERPINA13P ENST00000469935 human ensembl 74_37 +1 known rna NULL NULL 0.968 - - - no_errors SERPINA13P HGNC ENSG00000187483 179 0 0 108 43 28.4768 DICER1 0 genome.wustl.edu 37 14 95599742 95599742 + Silent SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 14 95599742 95599742 G T SNP DICER1 ENST00000343455 human ensembl 74_37 -1 known silent c.54 p.T18 1.000 NULL pfam_RNase_III_dom,pfam_PAZ_dom,pfam_Dicer_dimerisation_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,superfamily_RNase_III_dom,superfamily_P-loop_NTPase,superfamily_PAZ_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_PAZ_dom,smart_RNase_III_dom,smart_dsRNA-bd_dom,pfscan_PAZ_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_dsRNA-bd_dom,pfscan_RNase_III_dom - no_errors DICER1 HGNC ENSG00000100697 32 0 0 12 7 36.8421 ATG2B 0 genome.wustl.edu 37 14 96781919 96781919 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 14 96781919 96781919 G A SNP ATG2B ENST00000359933 human ensembl 74_37 -1 known silent c.3363 p.G1121 0.157 NULL pfam_Autophagy-rel_C - no_errors ATG2B HGNC ENSG00000066739 44 0 0 16 8 33.3333 LINS 0 genome.wustl.edu 37 15 101112175 101112175 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 15 101112175 101112175 G A SNP LINS ENST00000314742 human ensembl 74_37 -1 known missense c.1318 p.R440W 0.000 NULL NULL - no_errors LINS HGNC ENSG00000140471 82 0 0 35 25 41.6667 SNRPA1 0 genome.wustl.edu 37 15 101832204 101832204 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 15 101832204 101832204 G A SNP SNRPA1 ENST00000254193 human ensembl 74_37 -1 known missense c.272 p.T91I 0.971 NULL smart_U2A'_phosphoprotein32A_C - no_errors SNRPA1 HGNC ENSG00000131876 235 0 0 91 59 39.3333 HERC2P2 0 genome.wustl.edu 37 15 23331019 23331019 + RNA SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 15 23331019 23331019 G A SNP HERC2P2 ENST00000560464 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors HERC2P2 HGNC ENSG00000140181 32 0 0 14 7 33.3333 SNRPN 0 genome.wustl.edu 37 15 25222952 25222952 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 15 25222952 25222952 G A SNP SNRPN ENST00000444203 human ensembl 74_37 +1 known missense c.460 p.V154I 0.992 pirsf_snRNP-assoc_SmB/SmN pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc,pirsf_snRNP-assoc_SmB/SmN - no_errors SNRPN HGNC ENSG00000128739 52 0 0 22 12 35.2941 SNRPN 0 genome.wustl.edu 37 15 25223418 25223418 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 15 25223418 25223418 T C SNP SNRPN ENST00000444203 human ensembl 74_37 +1 known missense c.650 p.I217T 0.997 pirsf_snRNP-assoc_SmB/SmN pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc,pirsf_snRNP-assoc_SmB/SmN - no_errors SNRPN HGNC ENSG00000128739 173 0 0 72 60 45.4545 SNORD115-41 0 genome.wustl.edu 37 15 25490697 25490697 + RNA SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 15 25490697 25490697 G A SNP SNORD115-41 ENST00000363608 human ensembl 74_37 +1 known rna NULL NULL 0.991 - - - no_errors SNORD115-41 HGNC ENSG00000200478 398 0 0 205 123 37.5 ATP10A 0 genome.wustl.edu 37 15 25924992 25924992 + Missense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 15 25924992 25924992 C A SNP ATP10A ENST00000356865 human ensembl 74_37 -1 known missense c.3996 p.K1332N 0.034 NULL pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP10A HGNC ENSG00000206190 117 0 0 89 14 13.5922 HERC2 0 genome.wustl.edu 37 15 28361854 28361854 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 15 28361854 28361854 C T SNP HERC2 ENST00000261609 human ensembl 74_37 -1 known silent c.13566 p.P4522 0.000 superfamily_HECT,smart_HECT,pfscan_HECT pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens - no_errors HERC2 HGNC ENSG00000128731 114 0 0 61 40 39.604 HERC2 0 genome.wustl.edu 37 15 28412940 28412940 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 15 28412940 28412940 C T SNP HERC2 ENST00000261609 human ensembl 74_37 -1 known missense c.10447 p.A3483T 1.000 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens - no_errors HERC2 HGNC ENSG00000128731 77 0 0 33 27 45 HERC2 0 genome.wustl.edu 37 15 28422219 28422219 + Silent SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 15 28422219 28422219 A G SNP HERC2 ENST00000261609 human ensembl 74_37 -1 known silent c.9309 p.D3103 0.978 pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens - no_errors HERC2 HGNC ENSG00000128731 67 0 0 38 23 37.7049 HERC2 0 genome.wustl.edu 37 15 28427565 28427565 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 15 28427565 28427565 G A SNP HERC2 ENST00000261609 human ensembl 74_37 -1 known silent c.8919 p.G2973 0.983 pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens,prints_Reg_chr_condens pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens - no_errors HERC2 HGNC ENSG00000128731 73 0 0 33 17 34 HERC2 0 genome.wustl.edu 37 15 28467261 28467261 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 15 28467261 28467261 C T SNP HERC2 ENST00000261609 human ensembl 74_37 -1 known silent c.5565 p.Q1855 1.000 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens - no_errors HERC2 HGNC ENSG00000128731 92 0 0 54 4 6.89655 HERC2 0 genome.wustl.edu 37 15 28474910 28474910 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 15 28474910 28474910 C T SNP HERC2 ENST00000261609 human ensembl 74_37 -1 known silent c.4893 p.P1631 0.028 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens - no_errors HERC2 HGNC ENSG00000128731 164 0 0 74 28 27.451 TJP1 0 genome.wustl.edu 37 15 30019134 30019134 + Missense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 15 30019134 30019134 C A SNP TJP1 ENST00000346128 human ensembl 74_37 -1 known missense c.2162 p.W721L 1.000 pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,smart_GK/Ca_channel_bsu,pfscan_Guanylate_kin-like pfam_PDZ,pfam_ZU5,pfam_GK/Ca_channel_bsu,pfam_SH3_2,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_PDZ,smart_GK/Ca_channel_bsu,smart_ZU5,pfscan_PDZ,pfscan_SH3_domain,pfscan_ZU5,pfscan_Guanylate_kin-like,prints_ZonOcculS1,prints_ZonOcculdens - no_errors TJP1 HGNC ENSG00000104067 160 0 0 44 41 48.2353 TJP1 0 genome.wustl.edu 37 15 30065520 30065520 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 15 30065520 30065520 C T SNP TJP1 ENST00000346128 human ensembl 74_37 -1 known missense c.125 p.R42Q 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,pfam_ZU5,pfam_GK/Ca_channel_bsu,pfam_SH3_2,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_PDZ,smart_GK/Ca_channel_bsu,smart_ZU5,pfscan_PDZ,pfscan_SH3_domain,pfscan_ZU5,pfscan_Guanylate_kin-like,prints_ZonOcculS1,prints_ZonOcculdens - no_errors TJP1 HGNC ENSG00000104067 120 0 0 37 21 36.2069 KLF13 0 genome.wustl.edu 37 15 31664455 31664455 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 15 31664455 31664455 C T SNP KLF13 ENST00000307145 human ensembl 74_37 +1 known missense c.820 p.R274C 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF13 HGNC ENSG00000169926 11 0 0 9 10 52.6316 OTUD7A 0 genome.wustl.edu 37 15 31851311 31851311 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 15 31851311 31851311 G A SNP OTUD7A ENST00000382902 human ensembl 74_37 -1 known silent c.411 p.C137 1.000 NULL pfam_OTU,superfamily_UBA-like,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20 - no_errors OTUD7A HGNC ENSG00000169918 49 0 0 32 11 25.5814 FMN1 0 genome.wustl.edu 37 15 33261465 33261465 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 15 33261465 33261465 G A SNP FMN1 ENST00000334528 human ensembl 74_37 -1 known missense c.1768 p.L590F 0.997 NULL pfam_FH2_Formin,smart_FH2_Formin,prints_Formin_Cappuccino_subfam - no_errors FMN1 HGNC ENSG00000248905 403 0 0 190 130 40.625 RYR3 0 genome.wustl.edu 37 15 33795832 33795832 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 15 33795832 33795832 T C SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known missense c.172 p.Y58H 1.000 pfam_Ins145_P3_rcpt pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 18 0 0 7 5 41.6667 RYR3 0 genome.wustl.edu 37 15 34149996 34149996 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 15 34149996 34149996 G A SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known missense c.14023 p.G4675S 1.000 pfam_Ion_trans_dom pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 76 0 0 36 25 40.9836 AVEN 0 genome.wustl.edu 37 15 34159952 34159952 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 15 34159952 34159952 C T SNP AVEN ENST00000306730 human ensembl 74_37 -1 known silent c.717 p.G239 0.001 NULL NULL - no_errors AVEN HGNC ENSG00000169857 107 1 0.925926 51 38 42.6966 PGBD4 0 genome.wustl.edu 37 15 34395002 34395002 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 15 34395002 34395002 C T SNP PGBD4 ENST00000397766 human ensembl 74_37 +1 known silent c.270 p.G90 0.670 NULL NULL - no_errors PGBD4 HGNC ENSG00000182405 70 0 0 35 5 12.5 AQR 0 genome.wustl.edu 37 15 35231009 35231009 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 15 35231009 35231009 T C SNP AQR ENST00000156471 human ensembl 74_37 -1 known missense c.647 p.Y216C 1.000 NULL superfamily_P-loop_NTPase - no_errors AQR HGNC ENSG00000021776 107 0 0 40 36 47.3684 RASGRP1 0 genome.wustl.edu 37 15 38798066 38798066 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 15 38798066 38798066 C T SNP RASGRP1 ENST00000310803 human ensembl 74_37 -1 known missense c.1298 p.R433Q 1.000 superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_EF_hand_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_EF_hand_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_DAG/PE-bd - no_errors RASGRP1 HGNC ENSG00000172575 23 0 0 10 6 37.5 RASGRP1 0 genome.wustl.edu 37 15 38805064 38805064 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 15 38805064 38805064 A G SNP RASGRP1 ENST00000310803 human ensembl 74_37 -1 known missense c.769 p.W257R 1.000 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_EF_hand_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_EF_hand_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_DAG/PE-bd - no_errors RASGRP1 HGNC ENSG00000172575 30 0 0 34 6 15 BUB1B 0 genome.wustl.edu 37 15 40501868 40501868 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 15 40501868 40501868 T C SNP BUB1B ENST00000412359 human ensembl 74_37 +1 known missense c.2218 p.Y740H 0.968 NULL pfam_Mad3_BUB1_I,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Mad3_BUB1_I - no_errors BUB1B HGNC ENSG00000156970 130 0 0 53 34 39.0805 DISP2 0 genome.wustl.edu 37 15 40659836 40659836 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 15 40659836 40659836 G A SNP DISP2 ENST00000267889 human ensembl 74_37 +1 known missense c.1523 p.R508H 1.000 pfscan_SSD pfscan_SSD - no_errors DISP2 HGNC ENSG00000140323 131 0 0 55 31 36.0465 ZFYVE19 0 genome.wustl.edu 37 15 41105975 41105975 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 15 41105975 41105975 G A SNP ZFYVE19 ENST00000355341 human ensembl 74_37 +1 known missense c.1175 p.R392Q 0.000 superfamily_Znf_FYVE_PHD pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors ZFYVE19 HGNC ENSG00000166140 44 0 0 27 21 43.75 EXD1 0 genome.wustl.edu 37 15 41476734 41476734 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 15 41476734 41476734 G A SNP EXD1 ENST00000314992 human ensembl 74_37 -1 known missense c.940 p.R314C 1.000 superfamily_RNaseH-like_dom pfam_3'-5'_exonuclease_dom,superfamily_RNaseH-like_dom,smart_3'-5'_exonuclease_dom - no_errors EXD1 HGNC ENSG00000178997 97 0 0 42 25 37.3134 TYRO3 0 genome.wustl.edu 37 15 41865979 41865979 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 15 41865979 41865979 C T SNP TYRO3 ENST00000263798 human ensembl 74_37 +1 known missense c.2248 p.R750C 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 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,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,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TYRO3 HGNC ENSG00000092445 109 0 0 78 16 17.0213 MAPKBP1 0 genome.wustl.edu 37 15 42109837 42109837 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 15 42109837 42109837 G A SNP MAPKBP1 ENST00000456763 human ensembl 74_37 +1 known missense c.1826 p.R609Q 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors MAPKBP1 HGNC ENSG00000137802 58 0 0 65 6 8.4507 JMJD7-PLA2G4B 0 genome.wustl.edu 37 15 42126974 42126974 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 15 42126974 42126974 A G SNP JMJD7-PLA2G4B ENST00000382448 human ensembl 74_37 +1 known missense c.101 p.K34R 0.943 NULL pfam_LysoPLipase_cat_dom,pfam_C2_dom,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_dom,smart_JmjC_dom,smart_C2_dom,smart_LysoPLipase_cat_dom,pfscan_JmjC_dom,pfscan_C2_dom,pfscan_LysoPLipase_cat_dom - no_errors JMJD7-PLA2G4B HGNC ENSG00000168970 138 0 0 74 27 26.7327 JMJD7-PLA2G4B 0 genome.wustl.edu 37 15 42128412 42128412 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 15 42128412 42128412 C T SNP JMJD7-PLA2G4B ENST00000382448 human ensembl 74_37 +1 known missense c.596 p.P199L 0.998 smart_JmjC_dom,pfscan_JmjC_dom pfam_LysoPLipase_cat_dom,pfam_C2_dom,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_dom,smart_JmjC_dom,smart_C2_dom,smart_LysoPLipase_cat_dom,pfscan_JmjC_dom,pfscan_C2_dom,pfscan_LysoPLipase_cat_dom - no_errors JMJD7-PLA2G4B HGNC ENSG00000168970 79 0 0 46 10 17.8571 JMJD7-PLA2G4B 0 genome.wustl.edu 37 15 42139594 42139594 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 15 42139594 42139594 G A SNP JMJD7-PLA2G4B ENST00000382448 human ensembl 74_37 +1 known silent c.2700 p.S900 0.000 superfamily_Acyl_Trfase/lysoPLipase,smart_LysoPLipase_cat_dom,pfscan_LysoPLipase_cat_dom pfam_LysoPLipase_cat_dom,pfam_C2_dom,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_dom,smart_JmjC_dom,smart_C2_dom,smart_LysoPLipase_cat_dom,pfscan_JmjC_dom,pfscan_C2_dom,pfscan_LysoPLipase_cat_dom - no_errors JMJD7-PLA2G4B HGNC ENSG00000168970 169 0 0 96 68 41.4634 ZNF106 0 genome.wustl.edu 37 15 42710116 42710116 + Missense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 15 42710116 42710116 C A SNP ZNF106 ENST00000263805 human ensembl 74_37 -1 known missense c.5482 p.D1828Y 1.000 smart_Znf_C2H2-like pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_Znf_C2H2-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors ZNF106 HGNC ENSG00000103994 62 0 0 30 12 28.5714 ZNF106 0 genome.wustl.edu 37 15 42742066 42742066 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 15 42742066 42742066 G A SNP ZNF106 ENST00000263805 human ensembl 74_37 -1 known missense c.2335 p.R779W 0.969 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_Znf_C2H2-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors ZNF106 HGNC ENSG00000103994 224 0 0 173 19 9.89583 TTBK2 0 genome.wustl.edu 37 15 43120161 43120161 + Nonsense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 15 43120161 43120161 G A SNP TTBK2 ENST00000267890 human ensembl 74_37 -1 known nonsense c.502 p.R168* 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 TTBK2 HGNC ENSG00000128881 62 0 0 42 4 8.69565 UBR1 0 genome.wustl.edu 37 15 43351982 43351982 + Silent SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 15 43351982 43351982 T C SNP UBR1 ENST00000290650 human ensembl 74_37 -1 known silent c.903 p.E301 1.000 pfam_ClpS_core,superfamily_Ribosomal_L7/12_C/ClpS-like pfam_ClpS_core,pfam_Znf_N-recognin,superfamily_Ribosomal_L7/12_C/ClpS-like,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR1 HGNC ENSG00000159459 64 0 0 32 12 27.2727 TMEM62 0 genome.wustl.edu 37 15 43452973 43452973 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 15 43452973 43452973 G A SNP TMEM62 ENST00000260403 human ensembl 74_37 +1 known missense c.1277 p.R426H 1.000 NULL superfamily_Cadherin-like - no_errors TMEM62 HGNC ENSG00000137842 97 0 0 42 19 31.1475 EPB42 0 genome.wustl.edu 37 15 43500944 43500944 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 15 43500944 43500944 C T SNP EPB42 ENST00000300215 human ensembl 74_37 -1 known missense c.952 p.V318M 0.407 pfam_Transglutaminase-like,smart_Transglutaminase-like pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors EPB42 HGNC ENSG00000166947 116 0 0 90 15 14.2857 LCMT2 0 genome.wustl.edu 37 15 43620638 43620638 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 15 43620638 43620638 C T SNP LCMT2 ENST00000305641 human ensembl 74_37 -1 known missense c.2050 p.A684T 0.000 NULL pfam_LCM_MeTrfase - no_errors LCMT2 HGNC ENSG00000168806 100 0 0 62 13 17.3333 MAP1A 0 genome.wustl.edu 37 15 43814218 43814218 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 15 43814218 43814218 A G SNP MAP1A ENST00000399453 human ensembl 74_37 +1 known missense c.547 p.T183A 1.000 NULL NULL - no_errors MAP1A HGNC ENSG00000166963 100 0 0 37 31 45.5882 CATSPER2P1 0 genome.wustl.edu 37 15 44037264 44037264 + RNA SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 15 44037264 44037264 C A SNP CATSPER2P1 ENST00000381680 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors CATSPER2P1 HGNC ENSG00000205771 140 0 0 75 57 43.1818 B2M 0 genome.wustl.edu 37 15 45003747 45003747 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 15 45003747 45003747 G A SNP B2M ENST00000544417 human ensembl 74_37 +1 known missense c.3 p.M1I 0.701 NULL pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors B2M HGNC ENSG00000166710 67 0 0 51 21 29.1667 DUOX1 0 genome.wustl.edu 37 15 45444205 45444205 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 15 45444205 45444205 G A SNP DUOX1 ENST00000321429 human ensembl 74_37 +1 known missense c.3148 p.V1050M 0.811 NULL pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF_hand_dom,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_dom,prints_Haem_peroxidase_animal_subgr,prints_Recoverin,pfscan_EF_hand_dom,pfscan_Haem_peroxidase_animal - no_errors DUOX1 HGNC ENSG00000137857 64 0 0 33 4 10.8108 FBN1 0 genome.wustl.edu 37 15 48703365 48703365 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 15 48703365 48703365 C T SNP FBN1 ENST00000316623 human ensembl 74_37 -1 known missense c.8438 p.S2813N 1.000 pirsf_FBN pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN1 HGNC ENSG00000166147 136 0 0 54 21 28 FBN1 0 genome.wustl.edu 37 15 48829944 48829944 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 15 48829944 48829944 G A SNP FBN1 ENST00000316623 human ensembl 74_37 -1 known silent c.600 p.S200 0.976 pfam_TB_dom,superfamily_TB_dom,pirsf_FBN pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN1 HGNC ENSG00000166147 117 1 0.847458 75 35 31.8182 ATP8B4 0 genome.wustl.edu 37 15 50336843 50336843 + Missense_Mutation SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 15 50336843 50336843 G T SNP ATP8B4 ENST00000284509 human ensembl 74_37 -1 known missense c.248 p.P83H 1.000 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 ATP8B4 HGNC ENSG00000104043 69 0 0 22 14 38.8889 HDC 0 genome.wustl.edu 37 15 50544656 50544656 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 15 50544656 50544656 C T SNP HDC ENST00000267845 human ensembl 74_37 -1 known missense c.1012 p.A338T 1.000 pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase,prints_Aromatic_deC - no_errors HDC HGNC ENSG00000140287 126 0 0 70 39 35.7798 GABPB1 0 genome.wustl.edu 37 15 50595164 50595164 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 15 50595164 50595164 T C SNP GABPB1 ENST00000220429 human ensembl 74_37 -1 known missense c.433 p.I145V 0.999 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors GABPB1 HGNC ENSG00000104064 59 0 0 28 8 22.2222 GLDN 0 genome.wustl.edu 37 15 51696681 51696681 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 15 51696681 51696681 C T SNP GLDN ENST00000335449 human ensembl 74_37 +1 known silent c.1386 p.H462 1.000 pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like pfam_Olfac-like,pfam_Collagen,smart_Olfac-like,pfscan_Olfac-like - no_errors GLDN HGNC ENSG00000186417 131 0 0 53 30 36.1446 DMXL2 0 genome.wustl.edu 37 15 51868358 51868358 + Silent SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 15 51868358 51868358 A G SNP DMXL2 ENST00000543779 human ensembl 74_37 -1 known silent c.108 p.D36 1.000 NULL pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL2 HGNC ENSG00000104093 106 0 0 30 22 42.3077 TCF12 0 genome.wustl.edu 37 15 57565312 57565312 + Silent SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 15 57565312 57565312 A G SNP TCF12 ENST00000438423 human ensembl 74_37 +1 known silent c.1830 p.E610 1.000 pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors TCF12 HGNC ENSG00000140262 71 0 0 34 17 33.3333 GCOM1 0 genome.wustl.edu 37 15 57924693 57924693 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 15 57924693 57924693 G A SNP GCOM1 ENST00000380569 human ensembl 74_37 +1 known missense c.740 p.S247N 1.000 NULL NULL - no_errors GCOM1 HGNC ENSG00000137878 133 0 0 104 7 6.30631 LIPC 0 genome.wustl.edu 37 15 58853170 58853170 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 15 58853170 58853170 C T SNP LIPC ENST00000299022 human ensembl 74_37 +1 known missense c.1159 p.P387S 0.558 pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pirsf_Lipoprotein_lipase_LIPH,pfscan_PLAT/LH2_dom,prints_Lipase_hep pfam_Lipase_N,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pirsf_Lipoprotein_lipase_LIPH,pfscan_PLAT/LH2_dom,prints_Lipase_hep,prints_Lipase,prints_Lipo_Lipase - no_errors LIPC HGNC ENSG00000166035 76 0 0 45 24 34.7826 LIPC 0 genome.wustl.edu 37 15 58855922 58855922 + Missense_Mutation SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 15 58855922 58855922 G T SNP LIPC ENST00000299022 human ensembl 74_37 +1 known missense c.1388 p.R463I 1.000 pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pirsf_Lipoprotein_lipase_LIPH,pfscan_PLAT/LH2_dom pfam_Lipase_N,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pirsf_Lipoprotein_lipase_LIPH,pfscan_PLAT/LH2_dom,prints_Lipase_hep,prints_Lipase,prints_Lipo_Lipase - no_errors LIPC HGNC ENSG00000166035 36 0 0 22 6 21.4286 MYO1E 0 genome.wustl.edu 37 15 59430514 59430514 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 15 59430514 59430514 G A SNP MYO1E ENST00000288235 human ensembl 74_37 -1 known missense c.3133 p.P1045S 1.000 superfamily_SH3_domain pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_SH3_domain,pfam_SH3_2,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_SH3_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_SH3_domain,prints_Myosin_head_motor_dom,prints_SH3_domain - no_errors MYO1E HGNC ENSG00000157483 158 0 0 105 11 9.48276 RORA 0 genome.wustl.edu 37 15 60806876 60806876 + Silent SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 15 60806876 60806876 A G SNP RORA ENST00000261523 human ensembl 74_37 -1 known silent c.462 p.S154 0.986 pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_ROR_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_ThyrH_rcpt - no_errors RORA HGNC ENSG00000069667 162 0 0 57 43 43 VPS13C 0 genome.wustl.edu 37 15 62173044 62173044 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 15 62173044 62173044 G A SNP VPS13C ENST00000261517 human ensembl 74_37 -1 known missense c.9886 p.R3296W 0.991 NULL pfam_VPSAP_dom,pfam_Autophagy-rel_C - no_errors VPS13C HGNC ENSG00000129003 59 0 0 27 20 42.5532 TLN2 0 genome.wustl.edu 37 15 62989915 62989915 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 15 62989915 62989915 C T SNP TLN2 ENST00000306829 human ensembl 74_37 +1 known missense c.1321 p.R441W 1.000 NULL pfam_Talin_cent,pfam_ILWEQ_dom,pfam_Vinculin-bd_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ_dom,pfscan_FERM_domain,pfscan_ILWEQ_dom - no_errors TLN2 HGNC ENSG00000171914 145 0 0 107 59 35.5422 LACTB 0 genome.wustl.edu 37 15 63421745 63421745 + Silent SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 15 63421745 63421745 T C SNP LACTB ENST00000261893 human ensembl 74_37 +1 known silent c.1014 p.A338 1.000 pfam_Beta-lactam-related,superfamily_Beta-lactam/transpept-like pfam_Beta-lactam-related,superfamily_Beta-lactam/transpept-like - no_errors LACTB HGNC ENSG00000103642 88 0 0 22 29 56.8627 HERC1 0 genome.wustl.edu 37 15 63933787 63933787 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 15 63933787 63933787 G A SNP HERC1 ENST00000443617 human ensembl 74_37 -1 known missense c.11489 p.A3830V 1.000 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens - no_errors HERC1 HGNC ENSG00000103657 14 0 0 7 4 36.3636 SNX22 0 genome.wustl.edu 37 15 64444886 64444886 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 15 64444886 64444886 A G SNP SNX22 ENST00000325881 human ensembl 74_37 +1 known missense c.209 p.N70S 0.985 pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX22 HGNC ENSG00000157734 68 0 0 35 19 35.1852 PIF1 0 genome.wustl.edu 37 15 65108793 65108793 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 15 65108793 65108793 G A SNP PIF1 ENST00000333425 human ensembl 74_37 -1 known missense c.1846 p.R616W 0.866 superfamily_P-loop_NTPase pfam_DNA_helicase_Pif1,pfam_DNA_helicase,superfamily_P-loop_NTPase - no_errors PIF1 HGNC ENSG00000140451 113 0 0 69 42 37.8378 VWA9 0 genome.wustl.edu 37 15 65891328 65891328 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 15 65891328 65891328 G A SNP VWA9 ENST00000567744 human ensembl 74_37 -1 known missense c.595 p.L199F 1.000 NULL NULL - no_errors VWA9 HGNC ENSG00000138614 106 0 0 45 19 29.6875 LCTL 0 genome.wustl.edu 37 15 66844070 66844070 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 15 66844070 66844070 C T SNP LCTL ENST00000341509 human ensembl 74_37 -1 known missense c.1454 p.R485H 1.000 pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 - no_errors LCTL HGNC ENSG00000188501 170 0 0 59 38 39.1753 SKOR1 0 genome.wustl.edu 37 15 68119417 68119417 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 15 68119417 68119417 C T SNP SKOR1 ENST00000380035 human ensembl 74_37 +1 known silent c.1251 p.G417 0.297 NULL pfam_Transform_Ski,pfam_c-SKI_SMAD4-bd_dom,superfamily_DNA-bd_dom_put,superfamily_SAND_dom-like - no_errors SKOR1 HGNC ENSG00000188779 55 0 0 60 5 7.69231 PIAS1 0 genome.wustl.edu 37 15 68438952 68438952 + Nonsense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 15 68438952 68438952 C T SNP PIAS1 ENST00000249636 human ensembl 74_37 +1 known nonsense c.742 p.R248* 1.000 NULL pfam_Znf_MIZ,smart_SAP_dom,pfscan_Znf_MIZ,pfscan_SAP_dom - no_errors PIAS1 HGNC ENSG00000033800 124 0 0 60 31 34.0659 PIAS1 0 genome.wustl.edu 37 15 68445989 68445989 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 15 68445989 68445989 T C SNP PIAS1 ENST00000249636 human ensembl 74_37 +1 known missense c.890 p.L297S 1.000 NULL pfam_Znf_MIZ,smart_SAP_dom,pfscan_Znf_MIZ,pfscan_SAP_dom - no_errors PIAS1 HGNC ENSG00000033800 44 0 0 31 14 31.1111 GLCE 0 genome.wustl.edu 37 15 69560894 69560894 + Nonsense_Mutation SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 15 69560894 69560894 G T SNP GLCE ENST00000261858 human ensembl 74_37 +1 known nonsense c.1165 p.G389* 1.000 NULL pfam_C5-epim - no_errors GLCE HGNC ENSG00000138604 75 0 0 39 17 30.3571 UACA 0 genome.wustl.edu 37 15 70963407 70963407 + Nonsense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 15 70963407 70963407 G A SNP UACA ENST00000322954 human ensembl 74_37 -1 known nonsense c.1192 p.Q398* 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Prefoldin,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_T_SNARE_dom,prints_Ankyrin_rpt - no_errors UACA HGNC ENSG00000137831 46 0 0 14 9 39.1304 NR2E3 0 genome.wustl.edu 37 15 72103855 72103855 + RNA SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 15 72103855 72103855 G A SNP NR2E3 ENST00000326995 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors NR2E3 HGNC ENSG00000031544 9 0 0 9 7 43.75 C15orf59 0 genome.wustl.edu 37 15 74032580 74032580 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 15 74032580 74032580 C T SNP C15orf59 ENST00000379822 human ensembl 74_37 -1 known missense c.560 p.R187Q 1.000 NULL superfamily_Polyketide_synth_docking - no_errors C15orf59 HGNC ENSG00000205363 98 0 0 44 35 44.3038 LOXL1 0 genome.wustl.edu 37 15 74240214 74240214 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 15 74240214 74240214 G A SNP LOXL1 ENST00000261921 human ensembl 74_37 +1 known missense c.1573 p.D525N 0.995 pfam_Lysyl_oxidase,prints_Lysyl_oxidase pfam_Lysyl_oxidase,prints_Lysyl_oxidase - no_errors LOXL1 HGNC ENSG00000129038 124 0 0 90 37 29.1339 ISLR2 0 genome.wustl.edu 37 15 74426494 74426494 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 15 74426494 74426494 T C SNP ISLR2 ENST00000361742 human ensembl 74_37 +1 known missense c.1399 p.Y467H 0.998 NULL pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Ig-like_dom - no_errors ISLR2 HGNC ENSG00000167178 25 0 0 15 9 37.5 ARID3B 0 genome.wustl.edu 37 15 74883692 74883692 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 15 74883692 74883692 G A SNP ARID3B ENST00000346246 human ensembl 74_37 +1 known missense c.1082 p.R361H 1.000 NULL pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID3B HGNC ENSG00000179361 169 0 0 116 12 9.375 MAN2C1 0 genome.wustl.edu 37 15 75656966 75656966 + Missense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 15 75656966 75656966 C A SNP MAN2C1 ENST00000267978 human ensembl 74_37 -1 known missense c.463 p.G155W 1.000 NULL pfam_Glyco_hydro_38_N,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Gal_mutarotase_SF_dom,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom - no_errors MAN2C1 HGNC ENSG00000140400 39 0 0 17 14 45.1613 SIN3A 0 genome.wustl.edu 37 15 75702607 75702607 + Missense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 15 75702607 75702607 C A SNP SIN3A ENST00000360439 human ensembl 74_37 -1 known missense c.1029 p.K343N 1.000 pfam_PAH,superfamily_PAH pfam_PAH,pfam_HDAC_interact,superfamily_PAH,smart_HDAC_interact - no_errors SIN3A HGNC ENSG00000169375 87 0 0 59 10 14.4928 SCAPER 0 genome.wustl.edu 37 15 76643603 76643603 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 15 76643603 76643603 C T SNP SCAPER ENST00000324767 human ensembl 74_37 -1 known silent c.4074 p.A1358 0.004 NULL smart_Znf_U1 - no_errors SCAPER HGNC ENSG00000140386 17 0 0 14 4 22.2222 CTSH 0 genome.wustl.edu 37 15 79231492 79231492 + Missense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 15 79231492 79231492 C A SNP CTSH ENST00000220166 human ensembl 74_37 -1 known missense c.113 p.W38L 1.000 pfam_Prot_inhib_I29,smart_Prot_inhib_I29 pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C - no_errors CTSH HGNC ENSG00000103811 46 0 0 34 7 17.0732 MESDC1 0 genome.wustl.edu 37 15 81295494 81295494 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 15 81295494 81295494 C T SNP MESDC1 ENST00000267984 human ensembl 74_37 +1 known silent c.882 p.S294 1.000 NULL NULL - no_errors MESDC1 HGNC ENSG00000140406 12 0 0 4 10 71.4286 IL16 0 genome.wustl.edu 37 15 81593720 81593720 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 15 81593720 81593720 C T SNP IL16 ENST00000302987 human ensembl 74_37 +1 known missense c.3185 p.T1062M 0.002 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,prints_IL-16 - no_errors IL16 HGNC ENSG00000172349 73 0 0 29 18 38.2979 EFTUD1 0 genome.wustl.edu 37 15 82512123 82512123 + Missense_Mutation SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 15 82512123 82512123 G T SNP EFTUD1 ENST00000268206 human ensembl 74_37 -1 known missense c.1481 p.P494H 0.041 superfamily_Transl_B-barrel pfam_EF_GTP-bd_dom,pfam_EFG_V,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_EFG_III-V,superfamily_Transl_B-barrel,smart_EFG_V,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom - no_errors EFTUD1 HGNC ENSG00000140598 74 0 0 33 10 23.2558 LOC283693 0 genome.wustl.edu 37 15 83395628 83395628 + RNA SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 15 83395628 83395628 G A SNP LOC283693 ENST00000560958 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-752G15.9 Clone_based_vega_gene ENSG00000259315 8 0 0 4 3 42.8571 WHAMM 0 genome.wustl.edu 37 15 83502091 83502091 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 15 83502091 83502091 G A SNP WHAMM ENST00000286760 human ensembl 74_37 +1 known missense c.2233 p.A745T 0.998 pfscan_WH2_dom superfamily_tRNA-bd_arm,pfscan_WH2_dom - no_errors WHAMM HGNC ENSG00000156232 40 0 0 21 12 36.3636 BTBD1 0 genome.wustl.edu 37 15 83710649 83710649 + Missense_Mutation SNP G G C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 15 83710649 83710649 G C SNP BTBD1 ENST00000261721 human ensembl 74_37 -1 known missense c.693 p.D231E 1.000 pfam_BACK,smart_BACK pfam_PHR,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors BTBD1 HGNC ENSG00000064726 70 0 0 19 23 54.7619 ALPK3 0 genome.wustl.edu 37 15 85383636 85383636 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 15 85383636 85383636 C T SNP ALPK3 ENST00000258888 human ensembl 74_37 +1 known missense c.1732 p.R578W 0.007 NULL pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like_dom - no_errors ALPK3 HGNC ENSG00000136383 36 0 0 35 15 30 AGBL1 0 genome.wustl.edu 37 15 87217585 87217585 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 15 87217585 87217585 G A SNP AGBL1 ENST00000441037 human ensembl 74_37 +1 known missense c.3001 p.A1001T 0.000 NULL pfam_Peptidase_M14,superfamily_ARM-type_fold - no_errors AGBL1 HGNC ENSG00000166748 28 0 0 13 13 50 AEN 0 genome.wustl.edu 37 15 89172551 89172551 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 15 89172551 89172551 G A SNP AEN ENST00000379231 human ensembl 74_37 +1 known missense c.635 p.R212Q 1.000 pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease - no_errors AEN HGNC ENSG00000181026 148 0 0 96 49 33.7931 POLG 0 genome.wustl.edu 37 15 89864087 89864087 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 15 89864087 89864087 C T SNP POLG ENST00000268124 human ensembl 74_37 -1 known missense c.2891 p.R964H 1.000 pirsf_DNA-dir_DNA_pol_A_mt_sub,pfam_DNA-dir_DNA_pol_A_palm_dom,smart_DNA-dir_DNA_pol_A_palm_dom pirsf_DNA-dir_DNA_pol_A_mt_sub,pfam_DNA-dir_DNA_pol_A_palm_dom,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_A_palm_dom,prints_DNA-dir_DNA_pol_A_mt - no_errors POLG HGNC ENSG00000140521 47 0 0 32 22 40.7407 POLG 0 genome.wustl.edu 37 15 89876391 89876391 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 15 89876391 89876391 C T SNP POLG ENST00000268124 human ensembl 74_37 -1 known missense c.595 p.V199M 1.000 pirsf_DNA-dir_DNA_pol_A_mt_sub,superfamily_RNaseH-like_dom pirsf_DNA-dir_DNA_pol_A_mt_sub,pfam_DNA-dir_DNA_pol_A_palm_dom,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_A_palm_dom,prints_DNA-dir_DNA_pol_A_mt - no_errors POLG HGNC ENSG00000140521 45 0 0 29 8 21.6216 POLG 0 genome.wustl.edu 37 15 89876408 89876408 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 15 89876408 89876408 C T SNP POLG ENST00000268124 human ensembl 74_37 -1 known missense c.578 p.R193Q 0.997 pirsf_DNA-dir_DNA_pol_A_mt_sub,superfamily_RNaseH-like_dom pirsf_DNA-dir_DNA_pol_A_mt_sub,pfam_DNA-dir_DNA_pol_A_palm_dom,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_A_palm_dom,prints_DNA-dir_DNA_pol_A_mt - no_errors POLG HGNC ENSG00000140521 39 0 0 20 13 39.3939 ZNF710 0 genome.wustl.edu 37 15 90616474 90616474 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 15 90616474 90616474 G A SNP ZNF710 ENST00000268154 human ensembl 74_37 +1 known missense c.1630 p.V544M 0.998 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF710 HGNC ENSG00000140548 120 0 0 69 53 43.4426 UNC45A 0 genome.wustl.edu 37 15 91488239 91488239 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 15 91488239 91488239 T C SNP UNC45A ENST00000418476 human ensembl 74_37 +1 known missense c.1145 p.L382P 1.000 pfam_UNC-45/Ring3 pfam_UNC-45/Ring3,superfamily_ARM-type_fold,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors UNC45A HGNC ENSG00000140553 90 0 0 40 28 41.1765 MCTP2 0 genome.wustl.edu 37 15 94942207 94942207 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 15 94942207 94942207 G A SNP MCTP2 ENST00000357742 human ensembl 74_37 +1 known silent c.1806 p.P602 0.635 superfamily_C2_dom,smart_C2_dom pfam_C2_dom,pfam_PRibTrfase_C,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors MCTP2 HGNC ENSG00000140563 53 0 0 27 11 28.9474 SPATA8 0 genome.wustl.edu 37 15 97328284 97328284 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 15 97328284 97328284 T C SNP SPATA8 ENST00000558553 human ensembl 74_37 +1 putative missense c.133 p.F45L 0.000 NULL NULL - no_errors SPATA8 HGNC ENSG00000185594 158 0 0 66 39 37.1429 IGF1R 0 genome.wustl.edu 37 15 99442758 99442758 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 15 99442758 99442758 G A SNP IGF1R ENST00000268035 human ensembl 74_37 +1 known silent c.1155 p.T385 0.248 pirsf_Tyr_kinase_insulin-like_rcpt,pfam_EGF_rcpt_L pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom - no_errors IGF1R HGNC ENSG00000140443 124 0 0 58 32 35.5556 TTC23 0 genome.wustl.edu 37 15 99696478 99696478 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 15 99696478 99696478 A G SNP TTC23 ENST00000262074 human ensembl 74_37 -1 known missense c.1018 p.S340P 1.000 NULL smart_TPR_repeat - no_errors TTC23 HGNC ENSG00000103852 77 0 0 23 21 47.7273 TEKT5 0 genome.wustl.edu 37 16 10729710 10729710 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 10729710 10729710 C T SNP TEKT5 ENST00000283025 human ensembl 74_37 -1 known silent c.1152 p.K384 1.000 pfam_Tektin,prints_Tektin pfam_Tektin,prints_Tektin - no_errors TEKT5 HGNC ENSG00000153060 267 0 0 178 112 38.6207 RHBDF1 0 genome.wustl.edu 37 16 112645 112645 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 112645 112645 C T SNP RHBDF1 ENST00000262316 human ensembl 74_37 -1 known missense c.844 p.E282K 1.000 pfam_Rhomboid_SP pfam_Rhomboid_SP,pfam_Peptidase_S54_rhomboid_dom - no_errors RHBDF1 HGNC ENSG00000007384 287 0 0 172 106 38.1295 ZC3H7A 0 genome.wustl.edu 37 16 11859392 11859392 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 11859392 11859392 A G SNP ZC3H7A ENST00000355758 human ensembl 74_37 -1 known missense c.1672 p.F558L 0.980 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H7A HGNC ENSG00000122299 126 0 0 78 37 32.1739 CACNA1H 0 genome.wustl.edu 37 16 1250483 1250483 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 1250483 1250483 A G SNP CACNA1H ENST00000348261 human ensembl 74_37 +1 known missense c.1031 p.Y344C 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_PKD_2 - no_errors CACNA1H HGNC ENSG00000196557 79 0 0 49 23 31.9444 CACNA1H 0 genome.wustl.edu 37 16 1270119 1270119 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 1270119 1270119 C T SNP CACNA1H ENST00000348261 human ensembl 74_37 +1 known missense c.6187 p.R2063W 0.020 NULL pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_PKD_2 - no_errors CACNA1H HGNC ENSG00000196557 16 0 0 9 9 50 CACNA1H 0 genome.wustl.edu 37 16 1270845 1270845 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 1270845 1270845 C T SNP CACNA1H ENST00000348261 human ensembl 74_37 +1 known missense c.6913 p.P2305S 0.008 NULL pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_PKD_2 - no_errors CACNA1H HGNC ENSG00000196557 162 0 0 81 57 41.3043 BAIAP3 0 genome.wustl.edu 37 16 1391476 1391476 + Missense_Mutation SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 1391476 1391476 G T SNP BAIAP3 ENST00000324385 human ensembl 74_37 +1 known missense c.822 p.K274N 0.957 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,pfam_Munc13_subgr_dom-2,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors BAIAP3 HGNC ENSG00000007516 116 0 0 76 46 37.7049 MYH11 0 genome.wustl.edu 37 16 15797970 15797970 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 15797970 15797970 C T SNP MYH11 ENST00000396324 human ensembl 74_37 -1 known missense c.5818 p.E1940K 1.000 NULL pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS - no_errors MYH11 HGNC ENSG00000133392 145 0 0 55 50 47.619 MYH11 0 genome.wustl.edu 37 16 15818179 15818179 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 15818179 15818179 C T SNP MYH11 ENST00000396324 human ensembl 74_37 -1 known missense c.4225 p.E1409K 1.000 pfam_Myosin_tail pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS - no_errors MYH11 HGNC ENSG00000133392 69 0 0 28 28 50 IFT140 0 genome.wustl.edu 37 16 1657270 1657270 + RNA SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 1657270 1657270 C T SNP IFT140 ENST00000439987 human ensembl 74_37 -1 known rna NULL NULL 0.034 - - - no_errors IFT140 HGNC ENSG00000187535 138 0 0 83 14 14.433 COQ7 0 genome.wustl.edu 37 16 19087090 19087090 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 19087090 19087090 G A SNP COQ7 ENST00000321998 human ensembl 74_37 +1 known missense c.415 p.V139M 1.000 pfam_Ubq_synth_Coq7,superfamily_Ferritin-like_SF pfam_Ubq_synth_Coq7,superfamily_Ferritin-like_SF - no_errors COQ7 HGNC ENSG00000167186 93 0 0 68 44 39.2857 NOXO1 0 genome.wustl.edu 37 16 2030127 2030127 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 2030127 2030127 G A SNP NOXO1 ENST00000397280 human ensembl 74_37 -1 known missense c.472 p.L158F 0.476 superfamily_SH3_domain pfam_SH3_domain,pfam_Phox,superfamily_Phox,superfamily_SH3_domain,smart_SH3_domain,pfscan_Phox,pfscan_SH3_domain - no_errors NOXO1 HGNC ENSG00000196408 9 0 0 11 9 45 ACSM2B 0 genome.wustl.edu 37 16 20548678 20548678 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 20548678 20548678 A G SNP ACSM2B ENST00000329697 human ensembl 74_37 -1 known missense c.1636 p.F546L 1.000 NULL pfam_AMP-dep_Synth/Lig - no_errors ACSM2B HGNC ENSG00000066813 230 0 0 107 64 37.4269 DNAH3 0 genome.wustl.edu 37 16 21145631 21145631 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 21145631 21145631 A G SNP DNAH3 ENST00000261383 human ensembl 74_37 -1 known missense c.1031 p.L344P 0.997 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000158486 155 0 0 79 54 40.6015 ZP2 0 genome.wustl.edu 37 16 21220960 21220960 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 21220960 21220960 T C SNP ZP2 ENST00000219593 human ensembl 74_37 -1 known missense c.322 p.R108G 0.240 NULL pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors ZP2 HGNC ENSG00000103310 73 0 0 44 15 25.4237 TSC2 0 genome.wustl.edu 37 16 2127476 2127476 + RNA SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 2127476 2127476 C T SNP TSC2 ENST00000568366 human ensembl 74_37 +1 known rna NULL NULL 0.542 - - - no_errors TSC2 HGNC ENSG00000103197 141 0 0 79 52 39.6947 TSC2 0 genome.wustl.edu 37 16 2138052 2138052 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 2138052 2138052 T C SNP TSC2 ENST00000219476 human ensembl 74_37 +1 known missense c.5072 p.M1691T 1.000 pfam_Rap_GAP_dom,pfscan_Rap_GAP_dom pfam_Tuberin-type_domain,pfam_Tuberin_N,pfam_Rap_GAP_dom,superfamily_ARM-type_fold,pfscan_Rap_GAP_dom,prints_Tuberin - no_errors TSC2 HGNC ENSG00000103197 164 0 0 92 36 28.125 PKD1 0 genome.wustl.edu 37 16 2140589 2140589 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 2140589 2140589 G A SNP PKD1 ENST00000262304 human ensembl 74_37 -1 known silent c.12141 p.L4047 0.762 pfam_PKD1_2_channel,prints_PKD_1 pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_PLAT/LH2_dom,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_PLAT/LH2_dom,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat - no_errors PKD1 HGNC ENSG00000008710 27 0 0 19 6 24 OTOA 0 genome.wustl.edu 37 16 21690264 21690264 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 21690264 21690264 G A SNP OTOA ENST00000286149 human ensembl 74_37 +1 known silent c.120 p.A40 0.990 NULL NULL - no_errors OTOA HGNC ENSG00000155719 166 0 0 58 24 29.2683 TRAF7 0 genome.wustl.edu 37 16 2222338 2222338 + Nonsense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 2222338 2222338 C T SNP TRAF7 ENST00000326181 human ensembl 74_37 +1 known nonsense c.622 p.R208* 0.766 superfamily_TRAF-like pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_TRAF-like,smart_Znf_RING,smart_WD40_repeat,pfscan_Znf_RING,pfscan_Znf_TRAF,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors TRAF7 HGNC ENSG00000131653 33 0 0 20 8 28.5714 CASKIN1 0 genome.wustl.edu 37 16 2230431 2230431 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 2230431 2230431 G A SNP CASKIN1 ENST00000343516 human ensembl 74_37 -1 known missense c.2938 p.R980W 1.000 NULL pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_SH3_domain,prints_Ankyrin_rpt - no_errors CASKIN1 HGNC ENSG00000167971 13 0 0 8 7 46.6667 HBA2 0 genome.wustl.edu 37 16 223271 223271 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 223271 223271 G A SNP HBA2 ENST00000251595 human ensembl 74_37 +1 known silent c.243 p.L81 0.999 pfam_Globin,superfamily_Globin-like,prints_Haemoglobin_a,prints_Haemoglobin_pi,pfscan_Globin pfam_Globin,superfamily_Globin-like,prints_Haemoglobin_a,prints_Haemoglobin_pi,pfscan_Globin - no_errors HBA2 HGNC ENSG00000188536 9 0 0 6 5 45.4545 E4F1 0 genome.wustl.edu 37 16 2273712 2273712 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 2273712 2273712 T C SNP E4F1 ENST00000301727 human ensembl 74_37 +1 known missense c.98 p.V33A 0.925 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors E4F1 HGNC ENSG00000167967 12 0 0 12 16 57.1429 HS3ST2 0 genome.wustl.edu 37 16 22926718 22926718 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 22926718 22926718 C T SNP HS3ST2 ENST00000261374 human ensembl 74_37 +1 known silent c.939 p.C313 1.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors HS3ST2 HGNC ENSG00000122254 265 0 0 162 40 19.802 GGA2 0 genome.wustl.edu 37 16 23478825 23478825 + RNA SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 23478825 23478825 G A SNP GGA2 ENST00000567339 human ensembl 74_37 -1 putative rna NULL NULL 0.016 - - - no_errors GGA2 HGNC ENSG00000103365 10 0 0 1 4 80 ABCA3 0 genome.wustl.edu 37 16 2376256 2376256 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 2376256 2376256 G A SNP ABCA3 ENST00000301732 human ensembl 74_37 -1 known missense c.74 p.T25M 0.995 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA3 HGNC ENSG00000167972 88 0 0 62 26 29.5455 CACNG3 0 genome.wustl.edu 37 16 24372935 24372935 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 24372935 24372935 G A SNP CACNG3 ENST00000005284 human ensembl 74_37 +1 known silent c.699 p.R233 1.000 NULL pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_gsu - no_errors CACNG3 HGNC ENSG00000006116 105 0 0 54 31 36.4706 AQP8 0 genome.wustl.edu 37 16 25228661 25228661 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 25228661 25228661 G A SNP AQP8 ENST00000219660 human ensembl 74_37 +1 known missense c.155 p.G52E 1.000 pfam_MIP,superfamily_Aquaporin-like,prints_MIP pfam_MIP,superfamily_Aquaporin-like,prints_Aquaporin_8,prints_MIP - no_errors AQP8 HGNC ENSG00000103375 260 0 0 192 46 19.3277 KDM8 0 genome.wustl.edu 37 16 27221729 27221729 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 27221729 27221729 C T SNP KDM8 ENST00000441782 human ensembl 74_37 +1 known silent c.399 p.Y133 0.006 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM8 HGNC ENSG00000155666 84 0 0 46 36 43.9024 GTF3C1 0 genome.wustl.edu 37 16 27519890 27519890 + Nonsense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 27519890 27519890 G A SNP GTF3C1 ENST00000356183 human ensembl 74_37 -1 known nonsense c.1213 p.R405* 1.000 NULL pfam_TFIIIC_Bblock-bd - no_errors GTF3C1 HGNC ENSG00000077235 76 0 0 16 12 42.8571 SBK1 0 genome.wustl.edu 37 16 28331528 28331528 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 28331528 28331528 C T SNP SBK1 ENST00000341901 human ensembl 74_37 +1 known silent c.561 p.C187 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kinase_Sbk1,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,pirsf_Ser/Thr_kinase_Sbk1,pfscan_Prot_kinase_dom - no_errors SBK1 HGNC ENSG00000188322 32 0 0 18 12 40 SBK1 0 genome.wustl.edu 37 16 28331667 28331667 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 28331667 28331667 G A SNP SBK1 ENST00000341901 human ensembl 74_37 +1 known missense c.700 p.V234M 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kinase_Sbk1,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,pirsf_Ser/Thr_kinase_Sbk1,pfscan_Prot_kinase_dom - no_errors SBK1 HGNC ENSG00000188322 45 0 0 22 27 55.102 APOBR 0 genome.wustl.edu 37 16 28508861 28508861 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 28508861 28508861 G A SNP APOBR ENST00000564831 human ensembl 74_37 +1 known silent c.2499 p.E833 0.041 NULL NULL - no_errors APOBR HGNC ENSG00000184730 25 0 0 24 8 25 SULT1A1 0 genome.wustl.edu 37 16 28618377 28618377 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 28618377 28618377 C T SNP SULT1A1 ENST00000314752 human ensembl 74_37 -1 known missense c.394 p.A132T 1.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors SULT1A1 HGNC ENSG00000196502 213 0 0 177 46 20.6278 SULT1A1 0 genome.wustl.edu 37 16 28619676 28619676 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 28619676 28619676 C T SNP SULT1A1 ENST00000314752 human ensembl 74_37 -1 known missense c.308 p.R103Q 0.960 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors SULT1A1 HGNC ENSG00000196502 254 0 0 166 19 10.2703 SH2B1 0 genome.wustl.edu 37 16 28883214 28883214 + Missense_Mutation SNP C C G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 28883214 28883214 C G SNP SH2B1 ENST00000322610 human ensembl 74_37 +1 known missense c.1423 p.R475G 0.997 NULL pfam_Phe_ZIP,pfam_Pleckstrin_homology,pfam_SH2,superfamily_Phe_ZIP,smart_Pleckstrin_homology,smart_SH2,pfscan_SH2,prints_SH2 - no_errors SH2B1 HGNC ENSG00000178188 120 0 0 88 6 6.38298 ATP2A1 0 genome.wustl.edu 37 16 28912049 28912049 + Nonsense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 28912049 28912049 C T SNP ATP2A1 ENST00000357084 human ensembl 74_37 +1 known nonsense c.1912 p.R638* 0.977 pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Ca-transp_IIA pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_IIA,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2A1 HGNC ENSG00000196296 91 0 0 54 47 46.5347 LAT 0 genome.wustl.edu 37 16 28997880 28997880 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 28997880 28997880 C T SNP LAT ENST00000395461 human ensembl 74_37 +1 known silent c.438 p.Y146 0.873 NULL prints_Linker_for_activat_Tcells_prot - no_errors LAT HGNC ENSG00000213658 69 0 0 49 29 37.1795 NPIPB11 0 genome.wustl.edu 37 16 29401370 29401370 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 29401370 29401370 C T SNP NPIPB11 ENST00000524087 human ensembl 74_37 -1 putative missense c.437 p.R146Q 0.001 NULL NULL - no_errors NPIPB11 HGNC ENSG00000254206 90 0 0 26 20 43.4783 FLYWCH1 0 genome.wustl.edu 37 16 2987385 2987385 + Missense_Mutation SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 2987385 2987385 G T SNP FLYWCH1 ENST00000399667 human ensembl 74_37 +1 known missense c.1924 p.D642Y 0.996 NULL pfam_Znf_FLYWCH - no_errors FLYWCH1 HGNC ENSG00000059122 21 0 0 14 4 22.2222 TAOK2 0 genome.wustl.edu 37 16 29997696 29997696 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 29997696 29997696 G A SNP TAOK2 ENST00000308893 human ensembl 74_37 +1 known silent c.2103 p.T701 0.968 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TAOK2 HGNC ENSG00000149930 85 0 0 73 20 21.5054 CORO1A 0 genome.wustl.edu 37 16 30198388 30198388 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 30198388 30198388 C T SNP CORO1A ENST00000219150 human ensembl 74_37 +1 known silent c.480 p.D160 0.931 pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_DUF1900,pfam_DUF1899,pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CORO1A HGNC ENSG00000102879 71 0 0 55 4 6.77966 SEPT1 0 genome.wustl.edu 37 16 30392723 30392723 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 30392723 30392723 C T SNP SEPT1 ENST00000321367 human ensembl 74_37 -1 known missense c.518 p.R173Q 1.000 pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase,pirsf_Septin pfam_Cell_div_GTP-bd,pfam_Ribosome_biogen_GTPase_RsgA,superfamily_P-loop_NTPase,pirsf_Septin - no_errors SEPT1 HGNC ENSG00000180096 116 0 0 56 41 42.268 ZNF768 0 genome.wustl.edu 37 16 30536054 30536054 + Silent SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 30536054 30536054 G T SNP ZNF768 ENST00000380412 human ensembl 74_37 -1 known silent c.1407 p.S469 0.916 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_RNA_pol_II_repeat_euk,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF768 HGNC ENSG00000169957 26 0 0 20 12 37.5 ZNF764 0 genome.wustl.edu 37 16 30569372 30569372 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 30569372 30569372 C T SNP ZNF764 ENST00000252797 human ensembl 74_37 -1 known silent c.132 p.R44 0.000 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF764 HGNC ENSG00000169951 20 0 0 32 10 23.8095 HCFC1R1 0 genome.wustl.edu 37 16 3073914 3073914 + Missense_Mutation SNP C C G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 3073914 3073914 C G SNP HCFC1R1 ENST00000248089 human ensembl 74_37 -1 known missense c.29 p.G10A 0.194 NULL NULL - no_errors HCFC1R1 HGNC ENSG00000103145 9 0 0 5 3 37.5 SRCAP 0 genome.wustl.edu 37 16 30747684 30747684 + Missense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 30747684 30747684 C A SNP SRCAP ENST00000262518 human ensembl 74_37 +1 known missense c.6893 p.A2298D 1.000 NULL pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like - no_errors SRCAP HGNC ENSG00000080603 61 0 0 42 16 27.5862 STX1B 0 genome.wustl.edu 37 16 31012433 31012433 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 31012433 31012433 C T SNP STX1B ENST00000215095 human ensembl 74_37 -1 known missense c.187 p.A63T 0.998 pfam_Syntaxin_N,superfamily_t-SNARE,smart_Syntaxin_N pfam_Syntaxin_N,pfam_T_SNARE_dom,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors STX1B HGNC ENSG00000099365 82 0 0 39 18 31.5789 BCKDK 0 genome.wustl.edu 37 16 31122516 31122516 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 31122516 31122516 C T SNP BCKDK ENST00000219794 human ensembl 74_37 +1 known missense c.821 p.P274L 1.000 pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,smart_HATPase_ATP-bd,pfscan_Sig_transdc_His_kinase_core pfam_BCDHK/PDK_N,pfam_HATPase_ATP-bd,superfamily_BCDHK/PDK_N,superfamily_HATPase_ATP-bd,smart_HATPase_ATP-bd,pfscan_Sig_transdc_His_kinase_core,prints_Sig_transdc_His_kin-like_C - no_errors BCKDK HGNC ENSG00000103507 76 0 0 33 20 37.7358 FUS 0 genome.wustl.edu 37 16 31196402 31196402 + Silent SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 31196402 31196402 T C SNP FUS ENST00000254108 human ensembl 74_37 +1 known silent c.666 p.G222 0.017 NULL pfam_Znf_RanBP2,pfam_RRM_dom,smart_RRM_dom,smart_Znf_RanBP2,pfscan_Znf_RanBP2,pfscan_RRM_dom - no_errors FUS HGNC ENSG00000089280 16 0 0 13 13 50 SLC5A2 0 genome.wustl.edu 37 16 31499965 31499965 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 31499965 31499965 G A SNP SLC5A2 ENST00000330498 human ensembl 74_37 +1 known silent c.1152 p.A384 0.064 pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A2 HGNC ENSG00000140675 30 0 0 32 6 15.7895 ZNF205 0 genome.wustl.edu 37 16 3168973 3168973 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 3168973 3168973 C T SNP ZNF205 ENST00000219091 human ensembl 74_37 +1 known silent c.552 p.S184 0.002 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 ZNF205 HGNC ENSG00000122386 122 1 0.813008 113 6 5.04202 MEFV 0 genome.wustl.edu 37 16 3304265 3304265 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 3304265 3304265 G A SNP MEFV ENST00000219596 human ensembl 74_37 -1 known missense c.803 p.A268V 0.000 NULL pfam_DAPIN,pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,superfamily_DEATH-like_dom,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_DAPIN,pfscan_Znf_B-box,prints_Butyrophylin - no_errors MEFV HGNC ENSG00000103313 197 0 0 165 16 8.83978 ZNF263 0 genome.wustl.edu 37 16 3340259 3340259 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 3340259 3340259 C T SNP ZNF263 ENST00000219069 human ensembl 74_37 +1 known missense c.1753 p.R585W 0.996 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF263 HGNC ENSG00000006194 80 0 0 40 25 38.4615 SLX4 0 genome.wustl.edu 37 16 3644517 3644517 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 3644517 3644517 G A SNP SLX4 ENST00000294008 human ensembl 74_37 -1 known silent c.2097 p.S699 0.024 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors SLX4 HGNC ENSG00000188827 39 0 0 34 15 30.6122 SLX4 0 genome.wustl.edu 37 16 3647811 3647811 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 3647811 3647811 T C SNP SLX4 ENST00000294008 human ensembl 74_37 -1 known missense c.1353 p.I451M 0.000 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors SLX4 HGNC ENSG00000188827 76 0 0 57 32 35.9551 DNASE1 0 genome.wustl.edu 37 16 3713583 3713583 + RNA SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 3713583 3713583 G A SNP DNASE1 ENST00000575152 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors DNASE1 HGNC ENSG00000213918 80 0 0 61 9 12.8571 CREBBP 0 genome.wustl.edu 37 16 3778834 3778834 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 3778834 3778834 G A SNP CREBBP ENST00000262367 human ensembl 74_37 -1 known missense c.6214 p.R2072W 1.000 pfam_Nuc_rcpt_coact_CREBbp,superfamily_Nuc_rcpt_coact pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors CREBBP HGNC ENSG00000005339 86 0 0 53 45 45.9184 CREBBP 0 genome.wustl.edu 37 16 3781863 3781863 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 3781863 3781863 G A SNP CREBBP ENST00000262367 human ensembl 74_37 -1 known missense c.4804 p.R1602C 1.000 pfam_Histone_H3-K56_AcTrfase_RTT109 pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors CREBBP HGNC ENSG00000005339 127 0 0 62 47 43.1193 ADCY9 0 genome.wustl.edu 37 16 4029167 4029167 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 4029167 4029167 C T SNP ADCY9 ENST00000294016 human ensembl 74_37 -1 known missense c.2629 p.A877T 0.995 NULL pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY9 HGNC ENSG00000162104 114 0 0 75 35 31.8182 ADCY9 0 genome.wustl.edu 37 16 4165092 4165092 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 4165092 4165092 A G SNP ADCY9 ENST00000294016 human ensembl 74_37 -1 known missense c.352 p.Y118H 1.000 NULL pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY9 HGNC ENSG00000162104 88 0 0 61 35 36.4583 NMRAL1 0 genome.wustl.edu 37 16 4516334 4516334 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 4516334 4516334 T C SNP NMRAL1 ENST00000283429 human ensembl 74_37 -1 known missense c.349 p.I117V 1.000 pfam_NmrA pfam_NmrA,pfam_DH_sc/Rdtase_SDR,pfam_RCK_N - no_errors NMRAL1 HGNC ENSG00000153406 41 0 0 27 25 48.0769 SHCBP1 0 genome.wustl.edu 37 16 46629544 46629544 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 46629544 46629544 G A SNP SHCBP1 ENST00000303383 human ensembl 74_37 -1 known silent c.1384 p.L462 0.581 superfamily_Pectin_lyase_fold/virulence,smart_PbH1 superfamily_Pectin_lyase_fold/virulence,smart_PbH1 - no_errors SHCBP1 HGNC ENSG00000171241 57 0 0 29 22 43.1373 ABCC12 0 genome.wustl.edu 37 16 48149419 48149419 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 48149419 48149419 G A SNP ABCC12 ENST00000416054 human ensembl 74_37 -1 known missense c.1823 p.P608L 0.019 NULL pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,pfscan_ABC1_TM_dom - no_errors ABCC12 HGNC ENSG00000140798 125 0 0 85 48 36.0902 ABCC11 0 genome.wustl.edu 37 16 48244967 48244967 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 48244967 48244967 G A SNP ABCC11 ENST00000356608 human ensembl 74_37 -1 known silent c.1500 p.N500 0.000 superfamily_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC11 HGNC ENSG00000121270 98 0 0 85 5 5.55556 ABCC11 0 genome.wustl.edu 37 16 48258336 48258336 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 48258336 48258336 G A SNP ABCC11 ENST00000356608 human ensembl 74_37 -1 known missense c.400 p.H134Y 0.000 NULL pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC11 HGNC ENSG00000121270 84 0 0 23 22 48.8889 LONP2 0 genome.wustl.edu 37 16 48303976 48303976 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 48303976 48303976 C T SNP LONP2 ENST00000285737 human ensembl 74_37 +1 known silent c.1032 p.Y344 1.000 superfamily_P-loop_NTPase,tigrfam_Lon_bac/euk-typ pfam_Pept_S16_C,pfam_Pept_S16_N,pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_P-loop_NTPase,superfamily_PUA-like_domain,smart_Pept_S16_N,smart_AAA+_ATPase,tigrfam_Lon_bac/euk-typ - no_errors LONP2 HGNC ENSG00000102910 68 0 0 39 8 17.0213 LONP2 0 genome.wustl.edu 37 16 48337150 48337150 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 48337150 48337150 G A SNP LONP2 ENST00000285737 human ensembl 74_37 +1 known missense c.1729 p.V577M 1.000 tigrfam_Lon_bac/euk-typ pfam_Pept_S16_C,pfam_Pept_S16_N,pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_P-loop_NTPase,superfamily_PUA-like_domain,smart_Pept_S16_N,smart_AAA+_ATPase,tigrfam_Lon_bac/euk-typ - no_errors LONP2 HGNC ENSG00000102910 130 0 0 88 50 36.2319 BRD7 0 genome.wustl.edu 37 16 50362621 50362621 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 50362621 50362621 G A SNP BRD7 ENST00000394689 human ensembl 74_37 -1 known missense c.1046 p.T349M 1.000 pfam_DUF3512 pfam_DUF3512,pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors BRD7 HGNC ENSG00000166164 93 0 0 42 37 46.8354 NAGPA 0 genome.wustl.edu 37 16 5075682 5075682 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 5075682 5075682 C T SNP NAGPA ENST00000312251 human ensembl 74_37 -1 known missense c.1345 p.A449T 0.920 NULL pfam_DUF2233,pfscan_EG-like_dom - no_errors NAGPA HGNC ENSG00000103174 27 0 0 18 9 33.3333 CYLD 0 genome.wustl.edu 37 16 50826532 50826532 + Missense_Mutation SNP A A C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 50826532 50826532 A C SNP CYLD ENST00000311559 human ensembl 74_37 +1 known missense c.2266 p.M756L 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_CAP-Gly_domain,pfam_Peptidase_C19/C67,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain,pfscan_Peptidase_C19/C67 - no_errors CYLD HGNC ENSG00000083799 32 0 0 9 4 30.7692 CYLD 0 genome.wustl.edu 37 16 50828188 50828188 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 50828188 50828188 C T SNP CYLD ENST00000311559 human ensembl 74_37 +1 known silent c.2535 p.P845 0.029 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_CAP-Gly_domain,pfam_Peptidase_C19/C67,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain,pfscan_Peptidase_C19/C67 - no_errors CYLD HGNC ENSG00000083799 121 0 0 45 38 45.7831 FAM86A 0 genome.wustl.edu 37 16 5139163 5139163 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 5139163 5139163 G A SNP FAM86A ENST00000427587 human ensembl 74_37 -1 known silent c.837 p.Y279 0.322 pfam_Nicotinamide_N-MeTfrase-like pfam_Nicotinamide_N-MeTfrase-like - no_errors FAM86A HGNC ENSG00000118894 176 0 0 84 61 42.069 COQ9 0 genome.wustl.edu 37 16 57494015 57494015 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 57494015 57494015 C T SNP COQ9 ENST00000262507 human ensembl 74_37 +1 known missense c.920 p.T307M 1.000 NULL pfam_COQ9,superfamily_Homeodomain-like,tigrfam_Ubiq_biosynth_COQ9 - no_errors COQ9 HGNC ENSG00000088682 49 0 0 16 24 60 CCDC135 0 genome.wustl.edu 37 16 57756718 57756718 + Missense_Mutation SNP T T G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 57756718 57756718 T G SNP CCDC135 ENST00000360716 human ensembl 74_37 +1 known missense c.1373 p.L458R 0.966 NULL NULL - no_errors CCDC135 HGNC ENSG00000159625 99 0 0 68 36 34.6154 KATNB1 0 genome.wustl.edu 37 16 57778372 57778372 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 57778372 57778372 G A SNP KATNB1 ENST00000379661 human ensembl 74_37 +1 known missense c.238 p.A80T 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors KATNB1 HGNC ENSG00000140854 113 0 0 67 16 19.2771 CNOT1 0 genome.wustl.edu 37 16 58579291 58579291 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 58579291 58579291 C T SNP CNOT1 ENST00000317147 human ensembl 74_37 -1 known missense c.4111 p.A1371T 1.000 NULL pfam_CCR4-Not_Not1_C,superfamily_ARM-type_fold - no_errors CNOT1 HGNC ENSG00000125107 158 0 0 52 38 42.2222 PIGQ 0 genome.wustl.edu 37 16 624123 624123 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 624123 624123 G A SNP PIGQ ENST00000026218 human ensembl 74_37 +1 known missense c.49 p.G17R 1.000 NULL pfam_GlcNAc_Gpi1 - no_errors PIGQ HGNC ENSG00000007541 58 0 0 26 12 31.5789 PIGQ 0 genome.wustl.edu 37 16 624252 624252 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 624252 624252 G A SNP PIGQ ENST00000026218 human ensembl 74_37 +1 known missense c.178 p.V60M 0.000 NULL pfam_GlcNAc_Gpi1 - no_errors PIGQ HGNC ENSG00000007541 35 0 0 23 14 37.8378 CDH5 0 genome.wustl.edu 37 16 66436947 66436947 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 66436947 66436947 A G SNP CDH5 ENST00000341529 human ensembl 74_37 +1 known missense c.2230 p.S744G 1.000 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH5 HGNC ENSG00000179776 24 0 0 20 15 42.8571 CES4A 0 genome.wustl.edu 37 16 67035282 67035282 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 67035282 67035282 A G SNP CES4A ENST00000326686 human ensembl 74_37 +1 known missense c.608 p.E203G 1.000 pfam_CarbesteraseB,pfam_AB_hydrolase_3 pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CES4A HGNC ENSG00000172824 77 0 0 47 48 50.5263 EXOC3L1 0 genome.wustl.edu 37 16 67219121 67219121 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 67219121 67219121 C T SNP EXOC3L1 ENST00000314586 human ensembl 74_37 -1 known missense c.1667 p.S556N 0.989 pfam_Sec6 pfam_Sec6 - no_errors EXOC3L1 HGNC ENSG00000179044 123 0 0 70 46 39.6552 EXOC3L1 0 genome.wustl.edu 37 16 67223035 67223035 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 67223035 67223035 G A SNP EXOC3L1 ENST00000314586 human ensembl 74_37 -1 known missense c.95 p.A32V 0.997 NULL pfam_Sec6 - no_errors EXOC3L1 HGNC ENSG00000179044 25 0 0 17 14 45.1613 FHOD1 0 genome.wustl.edu 37 16 67270900 67270900 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 67270900 67270900 C T SNP FHOD1 ENST00000258201 human ensembl 74_37 -1 known missense c.1111 p.G371R 0.959 NULL pfam_FH2_Formin,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors FHOD1 HGNC ENSG00000135723 206 0 0 167 9 5.11364 KCTD19 0 genome.wustl.edu 37 16 67333364 67333364 + Missense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 67333364 67333364 C A SNP KCTD19 ENST00000304372 human ensembl 74_37 -1 known missense c.888 p.K296N 1.000 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold - no_errors KCTD19 HGNC ENSG00000168676 129 0 0 79 56 41.4815 HSD11B2 0 genome.wustl.edu 37 16 67470622 67470622 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 67470622 67470622 C T SNP HSD11B2 ENST00000326152 human ensembl 74_37 +1 known missense c.934 p.R312C 0.000 NULL pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH - no_errors HSD11B2 HGNC ENSG00000176387 163 0 0 134 31 18.7879 ATP6V0D1 0 genome.wustl.edu 37 16 67472920 67472920 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 67472920 67472920 C T SNP ATP6V0D1 ENST00000290949 human ensembl 74_37 -1 known missense c.770 p.R257Q 1.000 pfam_ATPase_V0-cplx_csu/dsu,superfamily_ATPase_V0-cplx_csu/dsu,pirsf_ATPase_V0-cplx_dsu pfam_ATPase_V0-cplx_csu/dsu,superfamily_ATPase_V0-cplx_csu/dsu,pirsf_ATPase_V0-cplx_dsu - no_errors ATP6V0D1 HGNC ENSG00000159720 251 1 0.396825 156 103 39.7683 ACD 0 genome.wustl.edu 37 16 67694125 67694125 + Missense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 67694125 67694125 C A SNP ACD ENST00000393919 human ensembl 74_37 -1 known missense c.257 p.G86V 0.000 NULL NULL - no_errors ACD HGNC ENSG00000102977 93 0 0 135 13 8.78378 TSNAXIP1 0 genome.wustl.edu 37 16 67861838 67861838 + Missense_Mutation SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 67861838 67861838 G T SNP TSNAXIP1 ENST00000388833 human ensembl 74_37 +1 known missense c.1919 p.R640L 0.001 NULL NULL - no_errors TSNAXIP1 HGNC ENSG00000102904 181 0 0 96 62 39.2405 PSKH1 0 genome.wustl.edu 37 16 67943431 67943431 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 67943431 67943431 C T SNP PSKH1 ENST00000291041 human ensembl 74_37 +1 known missense c.779 p.T260M 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 PSKH1 HGNC ENSG00000159792 99 0 0 71 8 10.1266 ESRP2 0 genome.wustl.edu 37 16 68265115 68265115 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 68265115 68265115 G A SNP ESRP2 ENST00000565858 human ensembl 74_37 -1 known silent c.1707 p.R569 1.000 NULL superfamily_RNaseH-like_dom,smart_RRM_dom - no_errors ESRP2 HGNC ENSG00000103067 73 0 0 48 14 22.5806 WFIKKN1 0 genome.wustl.edu 37 16 683446 683446 + Missense_Mutation SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 683446 683446 G T SNP WFIKKN1 ENST00000319070 human ensembl 74_37 +1 known missense c.1036 p.A346S 1.000 pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m pfam_Prot_inh_Kunz-m,pfam_Ig_I-set,pfam_Ig_V-set,pfam_WAP-type_4-diS_core,pfam_Kazal_dom,pfam_Immunoglobulin,pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,superfamily_Prot_inh_Kunz-m,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,smart_Ig_sub,smart_Ig_sub2,smart_Prot_inh_Kunz-m,pfscan_Netrin_domain,pfscan_Prot_inh_Kunz-m,pfscan_Ig-like_dom,prints_Prot_inh_Kunz-m - no_errors WFIKKN1 HGNC ENSG00000127578 8 0 0 12 3 20 SMPD3 0 genome.wustl.edu 37 16 68405948 68405948 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 68405948 68405948 C T SNP SMPD3 ENST00000219334 human ensembl 74_37 -1 known missense c.137 p.R46H 1.000 NULL pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase - no_errors SMPD3 HGNC ENSG00000103056 14 0 0 21 5 19.2308 HAS3 0 genome.wustl.edu 37 16 69143688 69143688 + Silent SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 69143688 69143688 C A SNP HAS3 ENST00000306560 human ensembl 74_37 +1 known silent c.390 p.A130 0.926 NULL pfam_Chitin_synth_fng,pfam_Glyco_trans_2 - no_errors HAS3 HGNC ENSG00000103044 71 0 0 88 5 5.37634 CIRH1A 0 genome.wustl.edu 37 16 69171777 69171777 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 69171777 69171777 A G SNP CIRH1A ENST00000314423 human ensembl 74_37 +1 known missense c.425 p.D142G 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CIRH1A HGNC ENSG00000141076 50 0 0 29 22 43.1373 COG8 0 genome.wustl.edu 37 16 69373160 69373160 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 69373160 69373160 C T SNP COG8 ENST00000306875 human ensembl 74_37 -1 known missense c.296 p.R99H 1.000 pfam_COG8,pirsf_COG8_Metazoal_Plant pfam_COG8,superfamily_Cullin_repeat-like_dom,pirsf_COG8_Metazoal_Plant - no_errors COG8 HGNC ENSG00000213380 53 0 0 31 17 35.4167 NOB1 0 genome.wustl.edu 37 16 69788525 69788525 + Missense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 69788525 69788525 C A SNP NOB1 ENST00000268802 human ensembl 74_37 -1 known missense c.168 p.K56N 0.972 smart_PIN_dom,pirsf_D-site_20S_pre-rRNA_nuclease pfam_NOB1_Zn-bd,smart_PIN_dom,pirsf_D-site_20S_pre-rRNA_nuclease - no_errors NOB1 HGNC ENSG00000141101 105 0 0 44 40 47.619 WWP2 0 genome.wustl.edu 37 16 69832850 69832850 + RNA SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 69832850 69832850 T C SNP WWP2 ENST00000544162 human ensembl 74_37 +1 known rna NULL NULL 0.008 - - - no_errors WWP2 HGNC ENSG00000198373 42 0 0 17 10 37.037 WWP2 0 genome.wustl.edu 37 16 69905707 69905707 + Silent SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 69905707 69905707 G T SNP WWP2 ENST00000356003 human ensembl 74_37 +1 known silent c.576 p.R192 1.000 NULL pfam_HECT,pfam_WW_dom,superfamily_HECT,superfamily_C2_dom,superfamily_WW_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_WW_dom - no_errors WWP2 HGNC ENSG00000198373 110 0 0 57 24 29.6296 WDR90 0 genome.wustl.edu 37 16 700148 700148 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 700148 700148 A G SNP WDR90 ENST00000549091 human ensembl 74_37 +1 novel missense c.260 p.H87R 1.000 pfam_DUF667 pfam_WD40_repeat,pfam_DUF667,pfam_Nucleoporin_Nup160,superfamily_Quinonprotein_ADH-like_supfam,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR90 HGNC ENSG00000161996 384 0 0 276 175 38.8027 AARS 0 genome.wustl.edu 37 16 70310972 70310972 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 70310972 70310972 C T SNP AARS ENST00000261772 human ensembl 74_37 -1 known missense c.230 p.R77Q 1.000 pfam_Ala-tRNA-synth_IIc_N,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-lgiase_IIc pfam_Ala-tRNA-synth_IIc_N,pfam_tRNA_SAD,pfam_Pesterase_DHHA1,superfamily_Ala-tRNA-ligase_IIc_anticod-bd,superfamily_Thr/Ala-tRNA-synth_IIc_edit,smart_tRNA_SAD,prints_Ala-tRNA-lgiase_IIc,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-lgiase_IIc - no_errors AARS HGNC ENSG00000090861 113 0 0 51 42 45.1613 FUK 0 genome.wustl.edu 37 16 70497538 70497538 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 70497538 70497538 G A SNP FUK ENST00000378912 human ensembl 74_37 +1 known missense c.95 p.R32Q 1.000 NULL pfam_Fucokinase,pfam_GHMP_kinase_C_dom,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Trimer_LpxA-like,prints_Galkinase - no_errors FUK HGNC ENSG00000157353 116 0 0 90 18 16.6667 COG4 0 genome.wustl.edu 37 16 70514920 70514920 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 70514920 70514920 C T SNP COG4 ENST00000323786 human ensembl 74_37 -1 known missense c.2363 p.R788H 1.000 NULL pfam_COG_su4,smart_COG_su4 - no_errors COG4 HGNC ENSG00000103051 75 0 0 92 7 7.07071 DHX38 0 genome.wustl.edu 37 16 72143392 72143392 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 72143392 72143392 G A SNP DHX38 ENST00000268482 human ensembl 74_37 +1 known missense c.3460 p.A1154T 1.000 NULL pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX38 HGNC ENSG00000140829 30 0 0 31 6 16.2162 ZFHX3 0 genome.wustl.edu 37 16 72830944 72830944 + Missense_Mutation SNP T T A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 72830944 72830944 T A SNP ZFHX3 ENST00000268489 human ensembl 74_37 -1 known missense c.5637 p.K1879N 0.833 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX3 HGNC ENSG00000140836 119 0 0 83 30 26.5487 ZFHX3 0 genome.wustl.edu 37 16 72831385 72831385 + Silent SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 72831385 72831385 T C SNP ZFHX3 ENST00000268489 human ensembl 74_37 -1 known silent c.5196 p.Q1732 0.953 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX3 HGNC ENSG00000140836 38 0 0 26 12 31.5789 ZFHX3 0 genome.wustl.edu 37 16 72991553 72991553 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 72991553 72991553 T C SNP ZFHX3 ENST00000268489 human ensembl 74_37 -1 known missense c.2492 p.N831S 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX3 HGNC ENSG00000140836 181 0 0 95 73 43.4524 MLKL 0 genome.wustl.edu 37 16 74729555 74729555 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 74729555 74729555 C T SNP MLKL ENST00000308807 human ensembl 74_37 -1 known missense c.101 p.R34H 0.006 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MLKL HGNC ENSG00000168404 75 0 0 36 15 29.4118 WDR59 0 genome.wustl.edu 37 16 74949595 74949595 + RNA SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 74949595 74949595 T C SNP WDR59 ENST00000562854 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors WDR59 HGNC ENSG00000103091 12 0 0 3 4 57.1429 LDHD 0 genome.wustl.edu 37 16 75146325 75146325 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 75146325 75146325 C T SNP LDHD ENST00000300051 human ensembl 74_37 -1 known missense c.1453 p.V485M 0.003 pfam_FAD-linked_oxidase_C,superfamily_FAD-linked_Oxase-like_C pfam_FAD-linked_oxidase_C,pfam_Oxid_FAD_bind_N,superfamily_FAD-linked_Oxase-like_C,superfamily_FAD-bd_2 - no_errors LDHD HGNC ENSG00000166816 51 0 0 36 16 30.7692 BCAR1 0 genome.wustl.edu 37 16 75263368 75263368 + RNA SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 75263368 75263368 C T SNP BCAR1 ENST00000566982 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors BCAR1 HGNC ENSG00000050820 9 0 0 6 7 53.8462 BCAR1 0 genome.wustl.edu 37 16 75276727 75276727 + Missense_Mutation SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 75276727 75276727 G T SNP BCAR1 ENST00000418647 human ensembl 74_37 -1 known missense c.412 p.P138T 0.000 NULL pfam_CAS_DUF3513,pfam_Serine_rich,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors BCAR1 HGNC ENSG00000050820 76 0 0 52 52 50 CHST6 0 genome.wustl.edu 37 16 75513267 75513267 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 75513267 75513267 C T SNP CHST6 ENST00000332272 human ensembl 74_37 -1 known missense c.460 p.A154T 0.271 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase - no_errors CHST6 HGNC ENSG00000183196 86 0 0 130 7 5.10949 ADAMTS18 0 genome.wustl.edu 37 16 77389931 77389931 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 77389931 77389931 C T SNP ADAMTS18 ENST00000282849 human ensembl 74_37 -1 known missense c.1366 p.A456T 1.000 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS18 HGNC ENSG00000140873 116 0 0 54 6 10 HAGHL 0 genome.wustl.edu 37 16 779157 779157 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 779157 779157 G A SNP HAGHL ENST00000341413 human ensembl 74_37 +1 known missense c.862 p.V288M 0.000 NULL pfam_Beta-lactamas-like,smart_Beta-lactamas-like - no_errors HAGHL HGNC ENSG00000103253 40 0 0 16 17 51.5152 NARFL 0 genome.wustl.edu 37 16 780543 780543 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 780543 780543 C T SNP NARFL ENST00000251588 human ensembl 74_37 -1 known silent c.1305 p.A435 0.000 pfam_Fe_hydrogenase_ssu-like,superfamily_Fe_hydrogenase,smart_Fe_hydrogenase_ssu-like pfam_Fe_hydrogenase_lsu_C,pfam_Fe_hydrogenase_ssu-like,superfamily_Fe_hydrogenase,smart_Fe_hydrogenase_ssu-like - no_errors NARFL HGNC ENSG00000103245 107 0 0 68 40 37.037 CDYL2 0 genome.wustl.edu 37 16 80667009 80667009 + Silent SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 80667009 80667009 A G SNP CDYL2 ENST00000570137 human ensembl 74_37 -1 known silent c.741 p.C247 1.000 NULL pfam_Crotonase_core_superfam,pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow - no_errors CDYL2 HGNC ENSG00000166446 162 0 0 135 13 8.78378 CMC2 0 genome.wustl.edu 37 16 81009998 81009998 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 81009998 81009998 C T SNP CMC2 ENST00000219400 human ensembl 74_37 -1 known missense c.232 p.E78K 0.711 NULL pfam_Cyt_c_biogenesis_Cmc1-like - no_errors CMC2 HGNC ENSG00000103121 42 0 0 12 3 20 PLCG2 0 genome.wustl.edu 37 16 81944244 81944244 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 81944244 81944244 G A SNP PLCG2 ENST00000359376 human ensembl 74_37 +1 known missense c.1853 p.R618H 0.965 superfamily_PLC-like_Pdiesterase_TIM-brl,smart_SH2,pirsf_PLC-gamma,pfscan_SH2 pfam_PLipase_C_PInositol-sp_X_dom,pfam_SH2,pfam_PLipase_C_Pinositol-sp_Y,pfam_SH3_domain,pfam_C2_dom,pfam_PLipase_C_EF-hand-like,pfam_SH3_2,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_SH2,smart_SH3_domain,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pirsf_PLC-gamma,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C,prints_SH2,prints_SH3_domain - no_errors PLCG2 HGNC ENSG00000197943 334 0 0 301 60 16.6205 MSLNL 0 genome.wustl.edu 37 16 819623 819623 + Missense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 819623 819623 C A SNP MSLNL ENST00000293892 human ensembl 74_37 -1 known missense c.2967 p.W989C 0.000 NULL pfam_Mesothelin - no_errors MSLNL HGNC ENSG00000162006 29 0 0 15 15 50 CDH13 0 genome.wustl.edu 37 16 83378590 83378590 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 83378590 83378590 G A SNP CDH13 ENST00000566620 human ensembl 74_37 +1 known missense c.760 p.V254I 0.998 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH13 HGNC ENSG00000140945 140 0 0 73 53 42.0635 CDH13 0 genome.wustl.edu 37 16 83712050 83712050 + Nonsense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 83712050 83712050 C T SNP CDH13 ENST00000566620 human ensembl 74_37 +1 known nonsense c.1522 p.Q508* 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH13 HGNC ENSG00000140945 54 0 0 64 5 7.24638 SLC38A8 0 genome.wustl.edu 37 16 84075680 84075680 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 84075680 84075680 C T SNP SLC38A8 ENST00000299709 human ensembl 74_37 -1 known missense c.83 p.G28D 0.971 pfam_AA_transpt_TM,pfam_Tryptophan/tyrosine_permease pfam_AA_transpt_TM,pfam_Tryptophan/tyrosine_permease - no_errors SLC38A8 HGNC ENSG00000166558 167 0 0 138 24 14.8148 HSDL1 0 genome.wustl.edu 37 16 84163718 84163718 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 84163718 84163718 G A SNP HSDL1 ENST00000219439 human ensembl 74_37 -1 known missense c.539 p.A180V 0.239 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors HSDL1 HGNC ENSG00000103160 163 0 0 142 13 8.3871 ATP2C2 0 genome.wustl.edu 37 16 84459366 84459366 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 84459366 84459366 G A SNP ATP2C2 ENST00000262429 human ensembl 74_37 +1 known silent c.945 p.S315 0.992 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Ca-transp_PMR1,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_PMR1,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2C2 HGNC ENSG00000064270 296 0 0 143 72 33.4884 KLHL36 0 genome.wustl.edu 37 16 84691224 84691224 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 84691224 84691224 G A SNP KLHL36 ENST00000564996 human ensembl 74_37 +1 known missense c.811 p.V271M 0.584 pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL36 HGNC ENSG00000135686 70 0 0 52 36 40.9091 IRF8 0 genome.wustl.edu 37 16 85948113 85948113 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 85948113 85948113 C T SNP IRF8 ENST00000268638 human ensembl 74_37 +1 known silent c.588 p.D196 0.002 NULL pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF8 HGNC ENSG00000140968 57 0 0 55 23 29.4872 BANP 0 genome.wustl.edu 37 16 88052119 88052119 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 88052119 88052119 G A SNP BANP ENST00000286122 human ensembl 74_37 +1 known silent c.717 p.L239 1.000 NULL pfam_BEN_domain - no_errors BANP HGNC ENSG00000172530 70 0 0 38 21 35.5932 SNAI3 0 genome.wustl.edu 37 16 88747836 88747836 + Silent SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 88747836 88747836 G T SNP SNAI3 ENST00000332281 human ensembl 74_37 -1 known silent c.363 p.P121 0.958 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SNAI3 HGNC ENSG00000185669 157 1 0.632911 109 80 42.328 CDH15 0 genome.wustl.edu 37 16 89260206 89260206 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 89260206 89260206 G A SNP CDH15 ENST00000289746 human ensembl 74_37 +1 known missense c.2036 p.S679N 0.002 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH15 HGNC ENSG00000129910 17 0 0 21 11 34.375 DEF8 0 genome.wustl.edu 37 16 90025682 90025682 + RNA SNP T T A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 90025682 90025682 T A SNP DEF8 ENST00000562044 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors DEF8 HGNC ENSG00000140995 14 0 0 9 9 50 CENPBD1 0 genome.wustl.edu 37 16 90038104 90038104 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 90038104 90038104 G A SNP CENPBD1 ENST00000314994 human ensembl 74_37 -1 known missense c.227 p.A76V 0.246 superfamily_Homeodomain-like pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,superfamily_Homeodomain-like,pfscan_HTH_Psq - no_errors CENPBD1 HGNC ENSG00000177946 13 0 0 5 11 68.75 GRIN2A 0 genome.wustl.edu 37 16 9863026 9863026 + RNA SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 9863026 9863026 C T SNP GRIN2A ENST00000463531 human ensembl 74_37 -1 putative rna NULL NULL 0.007 - - - no_errors GRIN2A HGNC ENSG00000183454 35 0 0 22 5 18.5185 MYH2 0 genome.wustl.edu 37 17 10447416 10447416 + Splice_Site SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 10447416 10447416 C T SNP MYH2 ENST00000245503 human ensembl 74_37 -1 known splice_site c.533+1 e4+1 1.000 - - - no_errors MYH2 HGNC ENSG00000125414 69 0 0 30 14 31.8182 DNAH9 0 genome.wustl.edu 37 17 11520831 11520831 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 11520831 11520831 G A SNP DNAH9 ENST00000262442 human ensembl 74_37 +1 known silent c.1008 p.R336 0.002 pfam_Dynein_heavy_dom-1 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH9 HGNC ENSG00000007174 84 0 0 53 38 41.7582 DNAH9 0 genome.wustl.edu 37 17 11784614 11784614 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 11784614 11784614 C T SNP DNAH9 ENST00000262442 human ensembl 74_37 +1 known missense c.10690 p.P3564S 1.000 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH9 HGNC ENSG00000007174 122 0 0 54 40 42.5532 ELAC2 0 genome.wustl.edu 37 17 12896274 12896274 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 12896274 12896274 C T SNP ELAC2 ENST00000338034 human ensembl 74_37 -1 known missense c.2342 p.R781H 1.000 NULL pfam_Beta-lactamas-like - no_errors ELAC2 HGNC ENSG00000006744 120 0 0 91 7 7.14286 MYO1C 0 genome.wustl.edu 37 17 1395772 1395772 + Nonsense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 1395772 1395772 G A SNP MYO1C ENST00000359786 human ensembl 74_37 -1 known nonsense c.10 p.Q4* 1.000 NULL pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO1C HGNC ENSG00000197879 14 0 0 9 11 55 TVP23C 0 genome.wustl.edu 37 17 15441469 15441469 + Splice_Site SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 15441469 15441469 C T SNP TVP23C ENST00000523573 human ensembl 74_37 -1 known splice_site c.162-2 e5-2 0.998 - - - no_errors TVP23C HGNC ENSG00000175106 86 0 0 61 33 35.1064 TVP23C 0 genome.wustl.edu 37 17 15457117 15457117 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 15457117 15457117 A G SNP TVP23C ENST00000225576 human ensembl 74_37 -1 known missense c.122 p.L41S 1.000 pfam_DUF846_euk pfam_DUF846_euk - no_errors TVP23C HGNC ENSG00000175106 247 0 0 131 8 5.7554 CDRT1 0 genome.wustl.edu 37 17 15522783 15522783 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 15522783 15522783 C T SNP CDRT1 ENST00000395906 human ensembl 74_37 -1 known missense c.44 p.R15H 0.036 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors CDRT1 HGNC ENSG00000241322 275 0 0 176 50 22.1239 ENSG00000233002 0 genome.wustl.edu 37 17 15642029 15642029 + RNA SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 15642029 15642029 C A SNP ENSG00000233002 ENST00000433873 human ensembl 74_37 -1 known rna NULL NULL 0.927 - - - no_errors AC005324.6 Clone_based_vega_gene ENSG00000233002 169 0 0 101 37 26.8116 WDR81 0 genome.wustl.edu 37 17 1631437 1631437 + Missense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 1631437 1631437 C A SNP WDR81 ENST00000409644 human ensembl 74_37 +1 known missense c.3184 p.L1062M 1.000 NULL pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Kinase-like_dom,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR81 HGNC ENSG00000167716 30 0 0 22 4 15.3846 WDR81 0 genome.wustl.edu 37 17 1631632 1631632 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 1631632 1631632 G A SNP WDR81 ENST00000409644 human ensembl 74_37 +1 known missense c.3379 p.E1127K 0.672 NULL pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Kinase-like_dom,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR81 HGNC ENSG00000167716 97 0 0 66 37 35.9223 ZNF624 0 genome.wustl.edu 37 17 16526942 16526942 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 16526942 16526942 C T SNP ZNF624 ENST00000311331 human ensembl 74_37 -1 known missense c.1258 p.D420N 0.376 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 ZNF624 HGNC ENSG00000197566 101 0 0 27 12 30.7692 PLD6 0 genome.wustl.edu 37 17 17109597 17109597 + Nonsense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 17109597 17109597 C A SNP PLD6 ENST00000321560 human ensembl 74_37 -1 known nonsense c.4 p.G2* 0.001 NULL smart_PLipase_D/transphosphatidylase,pfscan_PLipase_D/transphosphatidylase - no_errors PLD6 HGNC ENSG00000179598 9 0 0 3 8 72.7273 RAI1 0 genome.wustl.edu 37 17 17700540 17700540 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 17700540 17700540 C T SNP RAI1 ENST00000353383 human ensembl 74_37 +1 known silent c.4278 p.T1426 0.085 NULL smart_Znf_PHD - no_errors RAI1 HGNC ENSG00000108557 94 0 0 86 5 5.49451 MYO15A 0 genome.wustl.edu 37 17 18023437 18023437 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 18023437 18023437 G A SNP MYO15A ENST00000205890 human ensembl 74_37 +1 known silent c.1323 p.A441 0.000 NULL pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom - no_errors MYO15A HGNC ENSG00000091536 95 0 0 40 29 42.029 FLII 0 genome.wustl.edu 37 17 18154644 18154644 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 18154644 18154644 G A SNP FLII ENST00000327031 human ensembl 74_37 -1 known missense c.1531 p.P511S 1.000 pfam_Gelsolin_dom,smart_Villin/Gelsolin pfam_Gelsolin_dom,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Villin/Gelsolin,prints_Villin/Gelsolin - no_errors FLII HGNC ENSG00000177731 93 0 0 65 23 26.1364 TOP3A 0 genome.wustl.edu 37 17 18211732 18211732 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 18211732 18211732 T C SNP TOP3A ENST00000321105 human ensembl 74_37 -1 known missense c.247 p.T83A 1.000 pfam_Toprim_domain,superfamily_Topo_IA_core_domain,smart_Toprim_domain pfam_Topo_IA_cen,pfam_Znf_GRF,pfam_Toprim_domain,pfam_Topo_IA_Znf,superfamily_Topo_IA_core_domain,superfamily_Znf_CCHC,smart_Toprim_domain,smart_Topo_IA_2,smart_Topo_IA_DNA-bd,prints_Topo_IA - no_errors TOP3A HGNC ENSG00000177302 38 0 0 10 11 52.381 KRT17P2 0 genome.wustl.edu 37 17 18333010 18333010 + RNA SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 18333010 18333010 C T SNP KRT17P2 ENST00000326333 human ensembl 74_37 +1 known rna NULL NULL 0.997 - - - no_errors KRT17P2 HGNC ENSG00000186831 16 0 0 1 8 88.8889 EPN2 0 genome.wustl.edu 37 17 19186555 19186555 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 19186555 19186555 C T SNP EPN2 ENST00000314728 human ensembl 74_37 +1 known silent c.123 p.T41 0.000 pfam_Epsin_dom_N,pfam_ANTH_dom,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N pfam_Epsin_dom_N,pfam_ANTH_dom,superfamily_ENTH_VHS,smart_Epsin-like_N,smart_Ubiquitin-int_motif,pfscan_Epsin-like_N,pfscan_Ubiquitin-int_motif - no_errors EPN2 HGNC ENSG00000072134 121 0 0 63 37 37 FAM27L 0 genome.wustl.edu 37 17 21825562 21825562 + RNA SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 21825562 21825562 G A SNP FAM27L ENST00000426869 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors FAM27L HGNC ENSG00000178130 91 0 0 75 4 5.06329 MNT 0 genome.wustl.edu 37 17 2290445 2290445 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 2290445 2290445 T C SNP MNT ENST00000174618 human ensembl 74_37 -1 known missense c.1499 p.H500R 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MNT HGNC ENSG00000070444 18 0 0 14 10 41.6667 MNT 0 genome.wustl.edu 37 17 2290577 2290577 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 2290577 2290577 T C SNP MNT ENST00000174618 human ensembl 74_37 -1 known missense c.1367 p.N456S 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MNT HGNC ENSG00000070444 34 0 0 31 17 35.4167 METTL16 0 genome.wustl.edu 37 17 2324151 2324151 + Silent SNP T T G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 2324151 2324151 T G SNP METTL16 ENST00000263092 human ensembl 74_37 -1 known silent c.936 p.I312 0.672 pirsf_S-AdoMet-dep_MeTrfase_Mett10D pfam_rRNA_lsu_MeTfrase_F-like,pirsf_S-AdoMet-dep_MeTrfase_Mett10D - no_errors METTL16 HGNC ENSG00000127804 259 0 0 117 77 39.6907 WSB1 0 genome.wustl.edu 37 17 25639361 25639361 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 25639361 25639361 C T SNP WSB1 ENST00000262394 human ensembl 74_37 +1 known missense c.1232 p.S411F 0.989 pfam_SOCS_C,smart_SOCS_C,pfscan_SOCS_C pfam_WD40_repeat,pfam_SOCS_C,superfamily_WD40_repeat_dom,smart_WD40_repeat,smart_SOCS_C,pfscan_SOCS_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WSB1 HGNC ENSG00000109046 387 1 0.257732 197 124 38.6293 PIGS 0 genome.wustl.edu 37 17 26888587 26888587 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 26888587 26888587 C T SNP PIGS ENST00000308360 human ensembl 74_37 -1 known missense c.529 p.E177K 0.999 pfam_PtdIno-glycan_biosynth_class_S pfam_PtdIno-glycan_biosynth_class_S - no_errors PIGS HGNC ENSG00000087111 35 0 0 15 13 46.4286 SUPT6H 0 genome.wustl.edu 37 17 27001380 27001380 + Missense_Mutation SNP T T A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 27001380 27001380 T A SNP SUPT6H ENST00000314616 human ensembl 74_37 +1 known missense c.189 p.D63E 1.000 pirsf_TF_Spt6 pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_SH2,superfamily_NA-bd_OB-fold,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,smart_SH2,pirsf_TF_Spt6,pfscan_SH2,pfscan_Rbsml_prot_S1_RNA-bd_dom - no_errors SUPT6H HGNC ENSG00000109111 41 0 0 35 11 23.913 SUPT6H 0 genome.wustl.edu 37 17 27005589 27005589 + Missense_Mutation SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 27005589 27005589 G T SNP SUPT6H ENST00000314616 human ensembl 74_37 +1 known missense c.1143 p.K381N 1.000 pirsf_TF_Spt6 pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_SH2,superfamily_NA-bd_OB-fold,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,smart_SH2,pirsf_TF_Spt6,pfscan_SH2,pfscan_Rbsml_prot_S1_RNA-bd_dom - no_errors SUPT6H HGNC ENSG00000109111 80 0 0 28 28 50 RAB34 0 genome.wustl.edu 37 17 27041919 27041919 + Splice_Site SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 27041919 27041919 C T SNP RAB34 ENST00000447716 human ensembl 74_37 -1 known splice_site c.776-1 e10-1 1.000 - - - no_errors RAB34 HGNC ENSG00000109113 72 0 0 48 13 21.3115 TLCD1 0 genome.wustl.edu 37 17 27051740 27051740 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 27051740 27051740 T C SNP TLCD1 ENST00000292090 human ensembl 74_37 -1 known missense c.532 p.M178V 1.000 pfam_TLC-dom,smart_TLC-dom,pfscan_TLC-dom pfam_TLC-dom,smart_TLC-dom,pfscan_TLC-dom - no_errors TLCD1 HGNC ENSG00000160606 146 0 0 77 56 42.1053 PHF12 0 genome.wustl.edu 37 17 27233509 27233509 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 27233509 27233509 C T SNP PHF12 ENST00000332830 human ensembl 74_37 -1 known missense c.2707 p.E903K 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_SMAD_FHA_domain,smart_Znf_PHD,pfscan_FHA_dom,pfscan_Znf_PHD-finger - no_errors PHF12 HGNC ENSG00000109118 56 0 0 37 26 41.2698 PIPOX 0 genome.wustl.edu 37 17 27371936 27371936 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 27371936 27371936 G A SNP PIPOX ENST00000323372 human ensembl 74_37 +1 known silent c.174 p.A58 0.685 pfam_FAD-dep_OxRdtase,tigrfam_SoxA_mon pfam_FAD-dep_OxRdtase,tigrfam_SoxA_mon - no_errors PIPOX HGNC ENSG00000179761 86 0 0 48 20 29.4118 CORO6 0 genome.wustl.edu 37 17 27942982 27942982 + Missense_Mutation SNP G G C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 27942982 27942982 G C SNP CORO6 ENST00000345068 human ensembl 74_37 -1 known missense c.1274 p.A425G 0.997 NULL pfam_DUF1900,pfam_DUF1899,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CORO6 HGNC ENSG00000167549 14 0 0 13 8 38.0952 CORO6 0 genome.wustl.edu 37 17 27943832 27943832 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 27943832 27943832 C T SNP CORO6 ENST00000345068 human ensembl 74_37 -1 known missense c.892 p.D298N 0.971 pfam_DUF1900,superfamily_WD40_repeat_dom pfam_DUF1900,pfam_DUF1899,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CORO6 HGNC ENSG00000167549 158 0 0 95 59 38.3117 CORO6 0 genome.wustl.edu 37 17 27948260 27948260 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 27948260 27948260 G A SNP CORO6 ENST00000345068 human ensembl 74_37 -1 known silent c.180 p.I60 0.881 pfam_DUF1899,superfamily_WD40_repeat_dom pfam_DUF1900,pfam_DUF1899,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CORO6 HGNC ENSG00000167549 58 0 0 29 22 43.1373 EFCAB5 0 genome.wustl.edu 37 17 28417587 28417587 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 28417587 28417587 T C SNP EFCAB5 ENST00000394835 human ensembl 74_37 +1 known missense c.3832 p.C1278R 0.000 NULL pfscan_EF_hand_dom - no_errors EFCAB5 HGNC ENSG00000176927 159 0 0 61 42 40.7767 ENSG00000214719 0 genome.wustl.edu 37 17 28961033 28961033 + RNA SNP T T G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 28961033 28961033 T G SNP ENSG00000214719 ENST00000398849 human ensembl 74_37 +1 known rna NULL NULL 0.997 - - - no_errors AC005562.1 Clone_based_vega_gene ENSG00000214719 27 0 0 21 4 16 OR1D2 0 genome.wustl.edu 37 17 2995926 2995926 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 2995926 2995926 C T SNP OR1D2 ENST00000331459 human ensembl 74_37 -1 known missense c.365 p.R122H 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1D2 HGNC ENSG00000184166 161 0 0 74 50 40.3226 OR1G1 0 genome.wustl.edu 37 17 3030645 3030645 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 3030645 3030645 G A SNP OR1G1 ENST00000328890 human ensembl 74_37 -1 known silent c.201 p.S67 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 OR1G1 HGNC ENSG00000183024 113 0 0 58 29 33.3333 LRRC37B 0 genome.wustl.edu 37 17 30348616 30348616 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 30348616 30348616 C T SNP LRRC37B ENST00000341671 human ensembl 74_37 +1 known missense c.451 p.R151C 0.044 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC37B HGNC ENSG00000185158 106 0 0 71 23 24.4681 CDK5R1 0 genome.wustl.edu 37 17 30815228 30815228 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 30815228 30815228 C T SNP CDK5R1 ENST00000313401 human ensembl 74_37 +1 known missense c.590 p.T197M 1.000 pfam_CDK5_activator,superfamily_Cyclin-like,pirsf_CDK5_activator pfam_CDK5_activator,superfamily_Cyclin-like,pirsf_CDK5_activator - no_errors CDK5R1 HGNC ENSG00000176749 119 0 0 84 36 30 LIG3 0 genome.wustl.edu 37 17 33326360 33326360 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 33326360 33326360 C T SNP LIG3 ENST00000378526 human ensembl 74_37 +1 known silent c.2148 p.Y716 1.000 pfam_DNA_ligase_ATP-dep_C,superfamily_NA-bd_OB-fold,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_Znf_PARP,pfam_DNA_ligase_ATP-dep_C,superfamily_NA-bd_OB-fold,superfamily_BRCT_dom,superfamily_DNA_ligase_ATP-dep_N,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_Znf_PARP,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep - no_errors LIG3 HGNC ENSG00000005156 59 0 0 45 20 30.7692 RAD51D 0 genome.wustl.edu 37 17 33433310 33433310 + Splice_Site SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 33433310 33433310 C A SNP RAD51D ENST00000592430 human ensembl 74_37 -1 known splice_site c.NULL NULL 0.448 - - - no_errors RAD51D HGNC ENSG00000185379 37 0 0 22 10 31.25 UNC45B 0 genome.wustl.edu 37 17 33479993 33479993 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 33479993 33479993 C T SNP UNC45B ENST00000268876 human ensembl 74_37 +1 known missense c.463 p.R155W 0.634 superfamily_ARM-type_fold pfam_UNC-45/Ring3,superfamily_ARM-type_fold,smart_TPR_repeat,smart_Armadillo,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors UNC45B HGNC ENSG00000141161 114 0 0 71 31 30.3922 SPATA22 0 genome.wustl.edu 37 17 3349889 3349889 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 3349889 3349889 A G SNP SPATA22 ENST00000397168 human ensembl 74_37 -1 known missense c.679 p.S227P 0.000 NULL NULL - no_errors SPATA22 HGNC ENSG00000141255 22 0 0 9 6 40 SLFN5 0 genome.wustl.edu 37 17 33592194 33592194 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 33592194 33592194 C T SNP SLFN5 ENST00000299977 human ensembl 74_37 +1 known missense c.1963 p.R655C 0.923 pfam_DUF2075,superfamily_P-loop_NTPase pfam_ATPase_AAA-4,pfam_DUF2075,superfamily_P-loop_NTPase - no_errors SLFN5 HGNC ENSG00000166750 180 0 0 121 27 18.2432 CCL5 0 genome.wustl.edu 37 17 34207248 34207248 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 34207248 34207248 G A SNP CCL5 ENST00000293272 human ensembl 74_37 -1 known missense c.62 p.A21V 0.504 NULL pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom - no_errors CCL5 HGNC ENSG00000161570 18 0 0 20 6 23.0769 SYNRG 0 genome.wustl.edu 37 17 35899332 35899332 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 35899332 35899332 C T SNP SYNRG ENST00000339208 human ensembl 74_37 -1 known missense c.3382 p.A1128T 1.000 NULL smart_EPS15_homology,pfscan_EPS15_homology - no_errors SYNRG HGNC ENSG00000006114 57 0 0 33 8 19.5122 SYNRG 0 genome.wustl.edu 37 17 35902100 35902100 + Missense_Mutation SNP A A T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 35902100 35902100 A T SNP SYNRG ENST00000339208 human ensembl 74_37 -1 known missense c.3176 p.L1059Q 1.000 NULL smart_EPS15_homology,pfscan_EPS15_homology - no_errors SYNRG HGNC ENSG00000006114 150 0 0 45 36 44.4444 GSG2 0 genome.wustl.edu 37 17 3628631 3628631 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 3628631 3628631 A G SNP GSG2 ENST00000325418 human ensembl 74_37 +1 known missense c.1402 p.S468G 0.979 NULL pfam_DUF3635,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom - no_errors GSG2 HGNC ENSG00000177602 99 0 0 72 6 7.69231 GSG2 0 genome.wustl.edu 37 17 3628867 3628867 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 3628867 3628867 C T SNP GSG2 ENST00000325418 human ensembl 74_37 +1 known silent c.1638 p.S546 0.062 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom pfam_DUF3635,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom - no_errors GSG2 HGNC ENSG00000177602 108 0 0 31 31 50 GPR179 0 genome.wustl.edu 37 17 36492878 36492878 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 36492878 36492878 G A SNP GPR179 ENST00000342292 human ensembl 74_37 -1 known missense c.1210 p.R404C 1.000 pfam_GPCR_3_C,pfscan_GPCR_3_C pfam_GPCR_3_C,superfamily_Growth_fac_rcpt_N_dom,pfscan_GPCR_3_C - no_errors GPR179 HGNC ENSG00000188888 23 0 0 16 11 40.7407 ITGAE 0 genome.wustl.edu 37 17 3660327 3660327 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 3660327 3660327 C T SNP ITGAE ENST00000263087 human ensembl 74_37 -1 known silent c.1122 p.A374 0.001 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_Integrin_alpha-2,pfam_VWF_A,pfam_Integrin_alpha_C_CS,smart_VWF_A,smart_Int_alpha_beta-p,prints_Integrin_alpha,pfscan_VWF_A - no_errors ITGAE HGNC ENSG00000083457 240 0 0 141 84 37.3333 PIP4K2B 0 genome.wustl.edu 37 17 36926744 36926744 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 36926744 36926744 G A SNP PIP4K2B ENST00000269554 human ensembl 74_37 -1 known missense c.1115 p.T372M 0.996 pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub - no_errors PIP4K2B HGNC ENSG00000141720 149 0 0 112 67 37.4302 ERBB2 0 genome.wustl.edu 37 17 37873670 37873670 + Missense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 37873670 37873670 C A SNP ERBB2 ENST00000269571 human ensembl 74_37 +1 known missense c.1835 p.P612H 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,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 76 0 0 52 27 34.1772 IKZF3 0 genome.wustl.edu 37 17 37922200 37922200 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 37922200 37922200 C T SNP IKZF3 ENST00000346872 human ensembl 74_37 -1 known missense c.1373 p.R458H 1.000 smart_Znf_C2H2-like pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors IKZF3 HGNC ENSG00000161405 163 0 0 103 22 17.6 IKZF3 0 genome.wustl.edu 37 17 37949116 37949116 + Silent SNP T T A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 37949116 37949116 T A SNP IKZF3 ENST00000346872 human ensembl 74_37 -1 known silent c.234 p.G78 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors IKZF3 HGNC ENSG00000161405 80 0 0 51 6 10.5263 GSDMB 0 genome.wustl.edu 37 17 38062399 38062399 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 38062399 38062399 C T SNP GSDMB ENST00000360317 human ensembl 74_37 -1 known missense c.853 p.G285S 0.000 pfam_Gasdermin pfam_Gasdermin - no_errors GSDMB HGNC ENSG00000073605 111 0 0 44 28 38.8889 RAPGEFL1 0 genome.wustl.edu 37 17 38345469 38345469 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 38345469 38345469 G A SNP RAPGEFL1 ENST00000264644 human ensembl 74_37 +1 known missense c.338 p.R113H 1.000 superfamily_Ras_GEF_dom pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 - no_errors RAPGEFL1 HGNC ENSG00000108352 201 0 0 119 60 33.5196 KRT222 0 genome.wustl.edu 37 17 38812661 38812661 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 38812661 38812661 G A SNP KRT222 ENST00000394052 human ensembl 74_37 -1 known missense c.881 p.A294V 0.002 NULL pfam_IF,prints_Keratin_I - no_errors KRT222 HGNC ENSG00000213424 117 0 0 34 19 35.8491 KRTAP4-11 0 genome.wustl.edu 37 17 39274012 39274012 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 39274012 39274012 G A SNP KRTAP4-11 ENST00000391413 human ensembl 74_37 -1 known missense c.556 p.R186C 0.999 NULL pfam_Keratin-assoc - no_errors KRTAP4-11 HGNC ENSG00000212721 17 0 0 16 4 20 KRTAP4-11 0 genome.wustl.edu 37 17 39274087 39274087 + Missense_Mutation SNP G G C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 39274087 39274087 G C SNP KRTAP4-11 ENST00000391413 human ensembl 74_37 -1 known missense c.481 p.L161V 0.005 NULL pfam_Keratin-assoc - no_errors KRTAP4-11 HGNC ENSG00000212721 20 0 0 38 4 9.52381 KRT34 0 genome.wustl.edu 37 17 39535281 39535281 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 39535281 39535281 G A SNP KRT34 ENST00000394001 human ensembl 74_37 -1 known silent c.1150 p.L384 1.000 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT34 HGNC ENSG00000131737 182 0 0 115 77 40.1042 KRT35 0 genome.wustl.edu 37 17 39634622 39634622 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 39634622 39634622 C T SNP KRT35 ENST00000393989 human ensembl 74_37 -1 known silent c.990 p.Q330 1.000 pfam_IF,prints_Keratin_I pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT35 HGNC ENSG00000197079 61 0 0 49 13 20.9677 KRT9 0 genome.wustl.edu 37 17 39727639 39727639 + Silent SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 39727639 39727639 G T SNP KRT9 ENST00000246662 human ensembl 74_37 -1 known silent c.606 p.S202 0.000 pfam_IF pfam_IF,prints_Keratin_I - no_errors KRT9 HGNC ENSG00000171403 154 0 0 83 53 38.9706 KRT14 0 genome.wustl.edu 37 17 39743060 39743060 + Silent SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 39743060 39743060 G T SNP KRT14 ENST00000167586 human ensembl 74_37 -1 known silent c.27 p.T9 1.000 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT14 HGNC ENSG00000186847 11 0 0 10 3 23.0769 JUP 0 genome.wustl.edu 37 17 39925369 39925369 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 39925369 39925369 C T SNP JUP ENST00000310706 human ensembl 74_37 -1 known missense c.559 p.A187T 1.000 superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,prints_Beta-catenin - no_errors JUP HGNC ENSG00000173801 39 0 0 27 28 50.9091 JUP 0 genome.wustl.edu 37 17 39925702 39925702 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 39925702 39925702 C T SNP JUP ENST00000310706 human ensembl 74_37 -1 known missense c.436 p.E146K 1.000 superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,prints_Beta-catenin - no_errors JUP HGNC ENSG00000173801 28 0 0 8 8 50 KLHL10 0 genome.wustl.edu 37 17 39998199 39998199 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 39998199 39998199 G A SNP KLHL10 ENST00000293303 human ensembl 74_37 +1 known missense c.319 p.D107N 0.989 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL10 HGNC ENSG00000161594 109 0 0 63 22 25.8824 STAT5B 0 genome.wustl.edu 37 17 40375477 40375477 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 40375477 40375477 G A SNP STAT5B ENST00000293328 human ensembl 74_37 -1 known missense c.473 p.T158I 1.000 pfam_STAT_TF_alpha,superfamily_STAT_TF_coiled-coil pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2 - no_errors STAT5B HGNC ENSG00000173757 77 0 0 81 23 22.1154 FAM134C 0 genome.wustl.edu 37 17 40735516 40735516 + Missense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 40735516 40735516 C A SNP FAM134C ENST00000309428 human ensembl 74_37 -1 known missense c.810 p.Q270H 1.000 NULL NULL - no_errors FAM134C HGNC ENSG00000141699 49 0 0 55 19 25.6757 WNK4 0 genome.wustl.edu 37 17 40947844 40947844 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 40947844 40947844 G A SNP WNK4 ENST00000246914 human ensembl 74_37 +1 known missense c.3224 p.R1075H 0.968 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors WNK4 HGNC ENSG00000126562 62 0 0 32 26 44.8276 AOC3 0 genome.wustl.edu 37 17 41004852 41004852 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 41004852 41004852 G A SNP AOC3 ENST00000308423 human ensembl 74_37 +1 known missense c.1492 p.A498T 0.002 pfam_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_C pfam_Cu_amine_oxidase_C,pfam_Cu_amine_oxidase_N2,pfam_Cu_amine_oxidase_N3,superfamily_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase - no_errors AOC3 HGNC ENSG00000131471 104 0 0 59 9 13.2353 AOC4P 0 genome.wustl.edu 37 17 41019922 41019922 + RNA SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 41019922 41019922 A G SNP AOC4P ENST00000562301 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors AOC4P HGNC ENSG00000260105 61 0 0 47 5 9.61538 MPP3 0 genome.wustl.edu 37 17 41891581 41891581 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 41891581 41891581 G A SNP MPP3 ENST00000398389 human ensembl 74_37 -1 known silent c.1158 p.R386 1.000 pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,smart_GK/Ca_channel_bsu,pfscan_Guanylate_kin-like pfam_GK/Ca_channel_bsu,pfam_L27_C,pfam_PDZ,pfam_SH3_2,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors MPP3 HGNC ENSG00000161647 232 0 0 128 97 43.1111 MPP3 0 genome.wustl.edu 37 17 41907096 41907096 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 41907096 41907096 G A SNP MPP3 ENST00000398389 human ensembl 74_37 -1 known missense c.367 p.P123S 1.000 superfamily_PDZ pfam_GK/Ca_channel_bsu,pfam_L27_C,pfam_PDZ,pfam_SH3_2,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors MPP3 HGNC ENSG00000161647 120 0 0 56 25 30.8642 HDAC5 0 genome.wustl.edu 37 17 42161219 42161219 + Missense_Mutation SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 42161219 42161219 G T SNP HDAC5 ENST00000225983 human ensembl 74_37 -1 known missense c.2312 p.P771H 1.000 pfam_His_deacetylse_dom,pirsf_Histone_deAcase_II_euk pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse - no_errors HDAC5 HGNC ENSG00000108840 71 0 0 78 13 14.2857 HDAC5 0 genome.wustl.edu 37 17 42162397 42162397 + Missense_Mutation SNP T T G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 42162397 42162397 T G SNP HDAC5 ENST00000225983 human ensembl 74_37 -1 known missense c.2180 p.K727T 1.000 pfam_His_deacetylse_dom,pirsf_Histone_deAcase_II_euk pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse - no_errors HDAC5 HGNC ENSG00000108840 77 0 0 46 39 45.8824 HDAC5 0 genome.wustl.edu 37 17 42165014 42165014 + Missense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 42165014 42165014 C A SNP HDAC5 ENST00000225983 human ensembl 74_37 -1 known missense c.1653 p.E551D 1.000 pirsf_Histone_deAcase_II_euk pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse - no_errors HDAC5 HGNC ENSG00000108840 189 0 0 73 55 42.9688 UBTF 0 genome.wustl.edu 37 17 42290299 42290299 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 42290299 42290299 T C SNP UBTF ENST00000302904 human ensembl 74_37 -1 known missense c.548 p.H183R 1.000 superfamily_HMG_box_dom,superfamily_ARM-type_fold pfam_HMG_box_dom,superfamily_HMG_box_dom,superfamily_ARM-type_fold,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors UBTF HGNC ENSG00000108312 152 0 0 68 48 41.3793 SLC4A1 0 genome.wustl.edu 37 17 42328618 42328618 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 42328618 42328618 G A SNP SLC4A1 ENST00000262418 human ensembl 74_37 -1 known missense c.2564 p.A855V 0.758 tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange,prints_Anion_exchange_1,tigrfam_HCO3_transpt_euk - no_errors SLC4A1 HGNC ENSG00000004939 59 0 0 42 4 8.69565 ITGA2B 0 genome.wustl.edu 37 17 42453457 42453457 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 42453457 42453457 T C SNP ITGA2B ENST00000262407 human ensembl 74_37 -1 known missense c.2444 p.Y815C 1.000 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA2B HGNC ENSG00000005961 148 0 0 78 54 40.9091 DBF4B 0 genome.wustl.edu 37 17 42818725 42818725 + Silent SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 42818725 42818725 T C SNP DBF4B ENST00000315005 human ensembl 74_37 +1 known silent c.735 p.H245 1.000 NULL pfam_Znf_DBF,superfamily_BRCT_dom,smart_Znf_DBF - no_errors DBF4B HGNC ENSG00000161692 131 0 0 64 42 39.6226 EFTUD2 0 genome.wustl.edu 37 17 42940144 42940144 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 42940144 42940144 G A SNP EFTUD2 ENST00000426333 human ensembl 74_37 -1 known missense c.1544 p.T515I 1.000 pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_B-barrel pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFG/EF2_IV,pfam_EFG_V,pfam_Transl_elong_EFTu/EF1A_2,pfam_MIRO-like,superfamily_P-loop_NTPase,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_B-barrel,superfamily_EFG_III-V,smart_Transl_elong_EFG/EF2_IV,smart_EFG_V,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom - no_errors EFTUD2 HGNC ENSG00000108883 48 0 0 31 18 36.7347 FMNL1 0 genome.wustl.edu 37 17 43318567 43318567 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 43318567 43318567 C T SNP FMNL1 ENST00000328118 human ensembl 74_37 +1 known silent c.1302 p.S434 0.996 pfam_FH3_dom,superfamily_ARM-type_fold pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors FMNL1 HGNC ENSG00000184922 70 0 0 63 25 28.4091 SPATA32 0 genome.wustl.edu 37 17 43332690 43332690 + Nonsense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 43332690 43332690 G A SNP SPATA32 ENST00000331780 human ensembl 74_37 -1 known nonsense c.859 p.R287* 0.009 NULL NULL - no_errors SPATA32 HGNC ENSG00000184361 126 1 0.787402 63 30 32.2581 SPATA32 0 genome.wustl.edu 37 17 43333435 43333435 + Missense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 43333435 43333435 C A SNP SPATA32 ENST00000331780 human ensembl 74_37 -1 known missense c.114 p.E38D 0.003 NULL NULL - no_errors SPATA32 HGNC ENSG00000184361 22 0 0 11 5 31.25 MAP3K14 0 genome.wustl.edu 37 17 43363912 43363912 + RNA SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 43363912 43363912 G A SNP MAP3K14 ENST00000344686 human ensembl 74_37 -1 known rna NULL NULL 0.786 - - - no_errors MAP3K14 HGNC ENSG00000006062 10 0 0 21 3 12.5 ARHGAP27 0 genome.wustl.edu 37 17 43473180 43473180 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 43473180 43473180 G A SNP ARHGAP27 ENST00000428638 human ensembl 74_37 -1 known missense c.2422 p.R808C 0.008 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_WW_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_WW_dom,smart_WW_dom,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_WW_dom,pfscan_RhoGAP_dom - no_errors ARHGAP27 HGNC ENSG00000159314 11 0 0 9 4 30.7692 KANSL1 0 genome.wustl.edu 37 17 44110528 44110528 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 44110528 44110528 C T SNP KANSL1 ENST00000262419 human ensembl 74_37 -1 known missense c.2755 p.A919T 0.991 NULL NULL - no_errors KANSL1 HGNC ENSG00000120071 16 0 0 13 4 23.5294 KANSL1 0 genome.wustl.edu 37 17 44115995 44115995 + Missense_Mutation SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 44115995 44115995 G T SNP KANSL1 ENST00000262419 human ensembl 74_37 -1 known missense c.2450 p.P817H 0.810 NULL NULL - no_errors KANSL1 HGNC ENSG00000120071 66 0 0 48 32 40 SPNS2 0 genome.wustl.edu 37 17 4436551 4436551 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 4436551 4436551 G A SNP SPNS2 ENST00000329078 human ensembl 74_37 +1 known missense c.1102 p.A368T 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SPNS2 HGNC ENSG00000183018 33 0 0 35 4 10.2564 SPNS2 0 genome.wustl.edu 37 17 4437134 4437134 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 4437134 4437134 G A SNP SPNS2 ENST00000329078 human ensembl 74_37 +1 known missense c.1330 p.A444T 0.968 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SPNS2 HGNC ENSG00000183018 58 0 0 26 13 33.3333 CDC27 0 genome.wustl.edu 37 17 45219283 45219283 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 45219283 45219283 T C SNP CDC27 ENST00000531206 human ensembl 74_37 -1 known missense c.1505 p.Y502C 1.000 NULL pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CDC27 HGNC ENSG00000004897 187 0 0 108 32 22.8571 SNX11 0 genome.wustl.edu 37 17 46189966 46189966 + Nonsense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 46189966 46189966 C T SNP SNX11 ENST00000359238 human ensembl 74_37 +1 known nonsense c.73 p.R25* 1.000 pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX11 HGNC ENSG00000002919 255 0 0 121 76 38.5787 HOXB3 0 genome.wustl.edu 37 17 46629702 46629702 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 46629702 46629702 G A SNP HOXB3 ENST00000311626 human ensembl 74_37 -1 known silent c.135 p.G45 0.232 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXB3 HGNC ENSG00000120093 56 0 0 42 25 37.3134 HOXB9 0 genome.wustl.edu 37 17 46703540 46703540 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 46703540 46703540 C T SNP HOXB9 ENST00000311177 human ensembl 74_37 -1 known missense c.92 p.G31D 1.000 pfam_Hox9_activation_N,pirsf_Homeobox_Hox9 pfam_Hox9_activation_N,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pirsf_Homeobox_Hox9,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXB9 HGNC ENSG00000170689 17 0 0 13 14 51.8519 TTLL6 0 genome.wustl.edu 37 17 46862565 46862565 + Splice_Site SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 46862565 46862565 T C SNP TTLL6 ENST00000393382 human ensembl 74_37 -1 known splice_site c.1762-2 e13-2 0.956 - - - no_errors TTLL6 HGNC ENSG00000170703 101 0 0 58 8 12.1212 MINK1 0 genome.wustl.edu 37 17 4789868 4789868 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 4789868 4789868 G A SNP MINK1 ENST00000355280 human ensembl 74_37 +1 known missense c.896 p.R299H 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom - no_errors MINK1 HGNC ENSG00000141503 101 0 0 53 39 42.3913 COL1A1 0 genome.wustl.edu 37 17 48269838 48269838 + Missense_Mutation SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 48269838 48269838 G T SNP COL1A1 ENST00000225964 human ensembl 74_37 -1 known missense c.1981 p.Q661K 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL1A1 HGNC ENSG00000108821 20 0 0 13 6 31.5789 EME1 0 genome.wustl.edu 37 17 48458214 48458214 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 48458214 48458214 C T SNP EME1 ENST00000393271 human ensembl 74_37 +1 known missense c.1666 p.R556C 0.998 NULL pfam_ERCC4_domain,smart_ERCC4_domain - no_errors EME1 HGNC ENSG00000154920 148 0 0 85 23 21.2963 CACNA1G 0 genome.wustl.edu 37 17 48692727 48692727 + Missense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 48692727 48692727 C A SNP CACNA1G ENST00000359106 human ensembl 74_37 +1 known missense c.4765 p.Q1589K 1.000 NULL pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1 - no_errors CACNA1G HGNC ENSG00000006283 50 0 0 25 23 47.9167 ABCC3 0 genome.wustl.edu 37 17 48753397 48753397 + Nonsense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 48753397 48753397 C T SNP ABCC3 ENST00000285238 human ensembl 74_37 +1 known nonsense c.3013 p.Q1005* 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc - no_errors ABCC3 HGNC ENSG00000108846 57 0 0 41 29 41.4286 NME1-NME2 0 genome.wustl.edu 37 17 49247383 49247383 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 49247383 49247383 G A SNP NME1-NME2 ENST00000608447 human ensembl 74_37 +1 known missense c.734 p.R245H 1.000 pfam_Nucleoside_diP_kinase,superfamily_Nucleoside_diP_kinase,smart_Nucleoside_diP_kinase,prints_Nucleoside_diP_kinase pfam_Nucleoside_diP_kinase,superfamily_Nucleoside_diP_kinase,smart_Nucleoside_diP_kinase,prints_Nucleoside_diP_kinase - no_errors NME1-NME2 HGNC ENSG00000243678 53 0 0 37 12 24.4898 UTP18 0 genome.wustl.edu 37 17 49346265 49346265 + Missense_Mutation SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 49346265 49346265 G T SNP UTP18 ENST00000225298 human ensembl 74_37 +1 known missense c.622 p.D208Y 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors UTP18 HGNC ENSG00000011260 48 0 0 23 2 8 ZNF232 0 genome.wustl.edu 37 17 5009276 5009276 + Missense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 5009276 5009276 C A SNP ZNF232 ENST00000250076 human ensembl 74_37 -1 known missense c.1178 p.G393V 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZNF232 HGNC ENSG00000167840 87 0 0 22 21 48.8372 KIF2B 0 genome.wustl.edu 37 17 51901613 51901613 + Missense_Mutation SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 51901613 51901613 G T SNP KIF2B ENST00000268919 human ensembl 74_37 +1 known missense c.1219 p.G407W 1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF2B HGNC ENSG00000141200 63 0 0 57 18 24 NOG 0 genome.wustl.edu 37 17 54672213 54672213 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 54672213 54672213 G A SNP NOG ENST00000332822 human ensembl 74_37 +1 known missense c.629 p.R210H 1.000 pfam_Noggin,pirsf_Noggin pfam_Noggin,pirsf_Noggin - no_errors NOG HGNC ENSG00000183691 22 0 0 12 9 42.8571 COIL 0 genome.wustl.edu 37 17 55019424 55019424 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 55019424 55019424 A G SNP COIL ENST00000240316 human ensembl 74_37 -1 known missense c.1619 p.V540A 1.000 NULL NULL - no_errors COIL HGNC ENSG00000121058 93 0 0 75 10 11.7647 AKAP1 0 genome.wustl.edu 37 17 55183827 55183827 + Silent SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 55183827 55183827 T C SNP AKAP1 ENST00000337714 human ensembl 74_37 +1 known silent c.1002 p.N334 0.036 NULL pfam_Tudor,pfam_KH_dom_type_1,smart_KH_dom,smart_Tudor,pfscan_Tudor,pfscan_KH_dom_type_1 - no_errors AKAP1 HGNC ENSG00000121057 157 1 0.632911 94 54 36.4865 MSI2 0 genome.wustl.edu 37 17 55478773 55478773 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 55478773 55478773 G A SNP MSI2 ENST00000284073 human ensembl 74_37 +1 known missense c.346 p.G116R 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors MSI2 HGNC ENSG00000153944 138 0 0 67 25 27.1739 EPX 0 genome.wustl.edu 37 17 56274428 56274428 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 56274428 56274428 C T SNP EPX ENST00000225371 human ensembl 74_37 +1 known silent c.930 p.D310 0.979 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors EPX HGNC ENSG00000121053 213 0 0 117 78 40 RNF43 0 genome.wustl.edu 37 17 56435590 56435590 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 56435590 56435590 T C SNP RNF43 ENST00000407977 human ensembl 74_37 -1 known missense c.1547 p.D516G 0.040 NULL pfam_Znf_C3HC4_RING-type,superfamily_PAS,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF43 HGNC ENSG00000108375 131 0 0 123 10 7.5188 PPM1E 0 genome.wustl.edu 37 17 57057445 57057445 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 57057445 57057445 G A SNP PPM1E ENST00000308249 human ensembl 74_37 +1 known missense c.1321 p.V441M 1.000 pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom - no_errors PPM1E HGNC ENSG00000175175 63 0 0 33 4 10.8108 TRIM37 0 genome.wustl.edu 37 17 57093008 57093008 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 57093008 57093008 G A SNP TRIM37 ENST00000262294 human ensembl 74_37 -1 known missense c.2539 p.P847S 0.839 NULL pfam_Znf_B-box,pfam_MATH,superfamily_TRAF-like,smart_Znf_B-box,smart_Bbox_C,smart_MATH,pfscan_MATH,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM37 HGNC ENSG00000108395 188 0 0 96 54 36 DHX40 0 genome.wustl.edu 37 17 57654702 57654702 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 57654702 57654702 C T SNP DHX40 ENST00000251241 human ensembl 74_37 +1 known missense c.1049 p.T350M 1.000 pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_T2SS_protein-E,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX40 HGNC ENSG00000108406 62 0 0 22 10 31.25 TBC1D3P1-DHX40P1 0 genome.wustl.edu 37 17 58085999 58085999 + RNA SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 58085999 58085999 G A SNP TBC1D3P1-DHX40P1 ENST00000407042 human ensembl 74_37 -1 known rna NULL NULL 0.010 - - - no_errors TBC1D3P1-DHX40P1 HGNC ENSG00000267104 24 0 0 21 10 32.2581 HEATR6 0 genome.wustl.edu 37 17 58121401 58121401 + Silent SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 58121401 58121401 G T SNP HEATR6 ENST00000184956 human ensembl 74_37 -1 known silent c.3069 p.A1023 0.999 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR6 HGNC ENSG00000068097 148 0 0 84 40 32.2581 HEATR6 0 genome.wustl.edu 37 17 58147144 58147144 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 58147144 58147144 C T SNP HEATR6 ENST00000184956 human ensembl 74_37 -1 known silent c.867 p.P289 0.627 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR6 HGNC ENSG00000068097 128 0 0 54 24 30.7692 INTS2 0 genome.wustl.edu 37 17 59967232 59967232 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 59967232 59967232 C T SNP INTS2 ENST00000444766 human ensembl 74_37 -1 known silent c.1923 p.Q641 1.000 NULL NULL - no_errors INTS2 HGNC ENSG00000108506 32 0 0 5 9 64.2857 MRC2 0 genome.wustl.edu 37 17 60753167 60753167 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 60753167 60753167 G A SNP MRC2 ENST00000303375 human ensembl 74_37 +1 known missense c.1586 p.S529N 1.000 superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_FN_type2_col-bd,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin,prints_AntifreezeII - no_errors MRC2 HGNC ENSG00000011028 171 0 0 77 44 36.3636 KCNH6 0 genome.wustl.edu 37 17 61607783 61607783 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 61607783 61607783 G A SNP KCNH6 ENST00000583023 human ensembl 74_37 +1 known silent c.555 p.T185 0.008 NULL pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_ELK,prints_2pore_dom_K_chnl,pfscan_cNMP-bd_dom - no_errors KCNH6 HGNC ENSG00000173826 130 0 0 104 7 6.30631 MAP3K3 0 genome.wustl.edu 37 17 61766937 61766937 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 61766937 61766937 A G SNP MAP3K3 ENST00000361357 human ensembl 74_37 +1 known missense c.998 p.Q333R 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_OPR_PB1,superfamily_Kinase-like_dom,smart_OPR_PB1,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MAP3K3 HGNC ENSG00000198909 19 0 0 19 12 38.7097 PSMC5 0 genome.wustl.edu 37 17 61908745 61908745 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 61908745 61908745 G A SNP PSMC5 ENST00000310144 human ensembl 74_37 +1 known missense c.929 p.R310H 0.998 pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_26S_Psome_P45 pfam_ATPase_AAA_core,pfam_ATPase_AAA-2,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_26S_Psome_P45 - no_errors PSMC5 HGNC ENSG00000087191 260 0 0 156 99 38.8235 LOC146880 0 genome.wustl.edu 37 17 62746718 62746718 + RNA SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 62746718 62746718 C T SNP LOC146880 ENST00000400873 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors hsa-mir-6080 miRBase ENSG00000215769 48 0 0 30 18 37.5 PLEKHM1P 0 genome.wustl.edu 37 17 62818372 62818372 + RNA SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 62818372 62818372 G A SNP PLEKHM1P ENST00000397718 human ensembl 74_37 -1 known rna NULL NULL 0.979 - - - no_errors PLEKHM1P HGNC ENSG00000214176 51 0 0 34 28 45.1613 FAM64A 0 genome.wustl.edu 37 17 6350849 6350849 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 6350849 6350849 C T SNP FAM64A ENST00000250056 human ensembl 74_37 +1 known missense c.361 p.R121W 0.998 pfam_DUF1466 pfam_DUF1466 - no_errors FAM64A HGNC ENSG00000129195 125 0 0 79 42 34.7107 APOH 0 genome.wustl.edu 37 17 64219843 64219843 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 64219843 64219843 A G SNP APOH ENST00000205948 human ensembl 74_37 -1 known missense c.388 p.W130R 0.991 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,pfam_Sushi_2,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors APOH HGNC ENSG00000091583 97 0 0 58 32 35.5556 APOH 0 genome.wustl.edu 37 17 64224206 64224206 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 64224206 64224206 C T SNP APOH ENST00000205948 human ensembl 74_37 -1 known missense c.173 p.R58Q 0.066 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,pfam_Sushi_2,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors APOH HGNC ENSG00000091583 134 0 0 48 53 52.4752 KIAA0753 0 genome.wustl.edu 37 17 6493207 6493207 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 6493207 6493207 G A SNP KIAA0753 ENST00000361413 human ensembl 74_37 -1 known missense c.2678 p.P893L 0.000 NULL NULL - no_errors KIAA0753 HGNC ENSG00000198920 88 0 0 53 14 20.8955 ENSG00000215067 0 genome.wustl.edu 37 17 6913203 6913203 + Silent SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 6913203 6913203 G T SNP ENSG00000215067 ENST00000570562 human ensembl 74_37 -1 known silent c.9 p.T3 0.003 NULL NULL - no_errors AC027763.2 Clone_based_vega_gene ENSG00000215067 84 0 0 38 15 28.3019 SLC2A4 0 genome.wustl.edu 37 17 7187346 7187346 + Missense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 7187346 7187346 C A SNP SLC2A4 ENST00000317370 human ensembl 74_37 +1 known missense c.502 p.L168M 1.000 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,prints_Sugar/inositol_transpt,prints_Glc_transpt_4,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt - no_errors SLC2A4 HGNC ENSG00000181856 17 0 0 20 4 16.6667 NEURL4 0 genome.wustl.edu 37 17 7227487 7227487 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 7227487 7227487 C T SNP NEURL4 ENST00000399464 human ensembl 74_37 -1 known missense c.2002 p.V668I 0.995 superfamily_ConA-like_lec_gl_sf,pfscan_Neu_Z pfam_Neu_Z,superfamily_ConA-like_lec_gl_sf,smart_Neu_Z,pfscan_Neu_Z - no_errors NEURL4 HGNC ENSG00000215041 133 0 0 152 15 8.98204 DNAI2 0 genome.wustl.edu 37 17 72308361 72308361 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 72308361 72308361 C T SNP DNAI2 ENST00000311014 human ensembl 74_37 +1 known missense c.1714 p.P572S 0.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DNAI2 HGNC ENSG00000171595 18 0 0 11 4 26.6667 KIF19 0 genome.wustl.edu 37 17 72351078 72351078 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 72351078 72351078 C T SNP KIF19 ENST00000389916 human ensembl 74_37 +1 known missense c.2864 p.T955M 0.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIF19 HGNC ENSG00000196169 9 0 0 6 5 45.4545 GPRC5C 0 genome.wustl.edu 37 17 72443194 72443194 + RNA SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 72443194 72443194 G A SNP GPRC5C ENST00000582873 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors GPRC5C HGNC ENSG00000170412 65 0 0 31 22 41.5094 GRIN2C 0 genome.wustl.edu 37 17 72848528 72848528 + Missense_Mutation SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 72848528 72848528 G T SNP GRIN2C ENST00000293190 human ensembl 74_37 -1 known missense c.622 p.P208T 0.005 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,pfam_NMDAR2_C,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2C HGNC ENSG00000161509 8 0 0 6 4 40 FDXR 0 genome.wustl.edu 37 17 72861876 72861876 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 72861876 72861876 C T SNP FDXR ENST00000581530 human ensembl 74_37 -1 known missense c.574 p.A192T 1.000 pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD - no_errors FDXR HGNC ENSG00000161513 20 0 0 19 11 36.6667 OTOP2 0 genome.wustl.edu 37 17 72927105 72927105 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 72927105 72927105 G A SNP OTOP2 ENST00000331427 human ensembl 74_37 +1 known missense c.1375 p.A459T 0.000 NULL pfam_Otopetrin - no_errors OTOP2 HGNC ENSG00000183034 111 0 0 79 47 37.3016 HID1 0 genome.wustl.edu 37 17 72956280 72956280 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 72956280 72956280 G A SNP HID1 ENST00000425042 human ensembl 74_37 -1 known silent c.792 p.Y264 1.000 NULL pfam_Dymeclin - no_errors HID1 HGNC ENSG00000167861 50 0 0 29 22 43.1373 KIAA0195 0 genome.wustl.edu 37 17 73494345 73494345 + Missense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 73494345 73494345 C A SNP KIAA0195 ENST00000314256 human ensembl 74_37 +1 known missense c.3579 p.S1193R 0.210 pfam_ATPase_P-typ_cation-transptr_C pfam_ATPase_P-typ_cation-transptr_C - no_errors KIAA0195 HGNC ENSG00000177728 83 0 0 36 26 41.9355 ITGB4 0 genome.wustl.edu 37 17 73729676 73729676 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 73729676 73729676 C T SNP ITGB4 ENST00000200181 human ensembl 74_37 +1 known silent c.1560 p.C520 0.884 pirsf_Integrin_bsu-4,prints_Integrin_bsu pirsf_Integrin_bsu-4,pfam_Integrin_bsu_N,pfam_Fibronectin_type3,pfam_Calx_beta,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Fibronectin_type3,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,smart_Calx_beta,smart_Fibronectin_type3,prints_Integrin_bsu,pfscan_Fibronectin_type3 - no_errors ITGB4 HGNC ENSG00000132470 74 0 0 73 12 14.1176 ITGB4 0 genome.wustl.edu 37 17 73736063 73736063 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 73736063 73736063 G A SNP ITGB4 ENST00000200181 human ensembl 74_37 +1 known missense c.2357 p.G786D 0.999 pirsf_Integrin_bsu-4 pirsf_Integrin_bsu-4,pfam_Integrin_bsu_N,pfam_Fibronectin_type3,pfam_Calx_beta,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Fibronectin_type3,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,smart_Calx_beta,smart_Fibronectin_type3,prints_Integrin_bsu,pfscan_Fibronectin_type3 - no_errors ITGB4 HGNC ENSG00000132470 66 0 0 33 25 43.1034 SLC35G6 0 genome.wustl.edu 37 17 7386029 7386029 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 7386029 7386029 G A SNP SLC35G6 ENST00000412468 human ensembl 74_37 +1 known silent c.726 p.Q242 1.000 pfam_DMT pfam_DMT - no_errors SLC35G6 HGNC ENSG00000259224 128 0 0 105 10 8.69565 POLR2A 0 genome.wustl.edu 37 17 7399666 7399666 + Splice_Site SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 7399666 7399666 G A SNP POLR2A ENST00000322644 human ensembl 74_37 +1 known splice_site c.363+1 e3+1 1.000 - - - no_errors POLR2A HGNC ENSG00000181222 203 0 0 131 52 28.4153 EVPL 0 genome.wustl.edu 37 17 74018608 74018608 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 74018608 74018608 G A SNP EVPL ENST00000301607 human ensembl 74_37 -1 known silent c.492 p.C164 0.000 NULL pfam_Plectin_repeat,superfamily_Ferritin-like_SF,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors EVPL HGNC ENSG00000167880 17 0 0 11 7 38.8889 GALR2 0 genome.wustl.edu 37 17 74073369 74073369 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 74073369 74073369 G A SNP GALR2 ENST00000329003 human ensembl 74_37 +1 known missense c.1021 p.D341N 0.844 prints_GAL2_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Galanin_rcpt,prints_GAL2_rcpt - no_errors GALR2 HGNC ENSG00000182687 12 0 0 8 3 27.2727 ZACN 0 genome.wustl.edu 37 17 74077646 74077646 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 74077646 74077646 G A SNP ZACN ENST00000334586 human ensembl 74_37 +1 known silent c.690 p.A230 0.000 superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM - no_errors ZACN HGNC ENSG00000186919 212 0 0 113 61 35.0575 SPHK1 0 genome.wustl.edu 37 17 74383602 74383602 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 74383602 74383602 G A SNP SPHK1 ENST00000323374 human ensembl 74_37 +1 known missense c.1348 p.G450S 0.169 NULL pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom - no_errors SPHK1 HGNC ENSG00000176170 68 0 0 47 14 22.9508 SENP3 0 genome.wustl.edu 37 17 7468815 7468815 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 7468815 7468815 G A SNP SENP3 ENST00000429205 human ensembl 74_37 +1 known missense c.1126 p.V376M 1.000 NULL pfam_Peptidase_C48,pfscan_Peptidase_C48 - no_errors SENP3 HGNC ENSG00000161956 30 0 0 17 23 57.5 MPDU1 0 genome.wustl.edu 37 17 7487289 7487289 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 7487289 7487289 T C SNP MPDU1 ENST00000582151 human ensembl 74_37 +1 putative missense c.109 p.F37L 0.500 NULL NULL - no_errors MPDU1 HGNC ENSG00000129255 142 0 0 76 50 39.6825 TP53 0 genome.wustl.edu 37 17 7577539 7577539 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 7577539 7577539 G A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.742 p.R248W 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 77 0 0 49 18 26.8657 WRAP53 0 genome.wustl.edu 37 17 7605096 7605096 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 7605096 7605096 G A SNP WRAP53 ENST00000316024 human ensembl 74_37 +1 known missense c.944 p.R315Q 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WRAP53 HGNC ENSG00000141499 35 0 0 19 15 44.1176 TMC8 0 genome.wustl.edu 37 17 76137109 76137109 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 76137109 76137109 G A SNP TMC8 ENST00000318430 human ensembl 74_37 +1 known silent c.2097 p.A699 0.000 NULL pfam_TMC - no_errors TMC8 HGNC ENSG00000167895 16 0 0 10 11 52.381 AFMID 0 genome.wustl.edu 37 17 76200813 76200813 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 76200813 76200813 G A SNP AFMID ENST00000327898 human ensembl 74_37 +1 known missense c.385 p.A129T 0.997 pfam_AB_hydrolase_3 pfam_AB_hydrolase_3 - no_errors AFMID HGNC ENSG00000183077 64 0 0 34 23 40.3509 DNAH17 0 genome.wustl.edu 37 17 76430214 76430214 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 76430214 76430214 G A SNP DNAH17 ENST00000389840 human ensembl 74_37 -1 known missense c.12103 p.R4035C 1.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_HR1_rho-bd - no_errors DNAH17 HGNC ENSG00000187775 132 0 0 89 56 38.6207 CYTH1 0 genome.wustl.edu 37 17 76677079 76677079 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 76677079 76677079 G A SNP CYTH1 ENST00000361101 human ensembl 74_37 -1 known missense c.937 p.R313W 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom - no_errors CYTH1 HGNC ENSG00000108669 173 0 0 101 14 12.1739 CYTH1 0 genome.wustl.edu 37 17 76704344 76704344 + Splice_Site SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 76704344 76704344 C A SNP CYTH1 ENST00000361101 human ensembl 74_37 -1 known splice_site c.106-1 e3-1 1.000 - - - no_errors CYTH1 HGNC ENSG00000108669 57 0 0 38 7 15.5556 DNAH2 0 genome.wustl.edu 37 17 7690337 7690337 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 7690337 7690337 G A SNP DNAH2 ENST00000389173 human ensembl 74_37 +1 known missense c.6589 p.A2197T 0.471 pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH2 HGNC ENSG00000183914 49 0 0 27 20 42.5532 KDM6B 0 genome.wustl.edu 37 17 7749539 7749539 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 7749539 7749539 C T SNP KDM6B ENST00000254846 human ensembl 74_37 +1 known missense c.380 p.T127I 0.045 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM6B HGNC ENSG00000132510 34 0 0 26 19 42.2222 TBC1D16 0 genome.wustl.edu 37 17 77987325 77987325 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 77987325 77987325 G A SNP TBC1D16 ENST00000310924 human ensembl 74_37 -1 known missense c.22 p.R8C 1.000 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D16 HGNC ENSG00000167291 10 0 0 8 5 38.4615 CCDC40 0 genome.wustl.edu 37 17 78011979 78011979 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 78011979 78011979 C T SNP CCDC40 ENST00000397545 human ensembl 74_37 +1 known silent c.87 p.S29 0.001 NULL pfam_E3_ubiquit_lig_BRE1 - no_errors CCDC40 HGNC ENSG00000141519 47 0 0 11 15 57.6923 CCDC40 0 genome.wustl.edu 37 17 78024074 78024074 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 78024074 78024074 G A SNP CCDC40 ENST00000397545 human ensembl 74_37 +1 known missense c.1151 p.R384H 0.934 NULL pfam_E3_ubiquit_lig_BRE1 - no_errors CCDC40 HGNC ENSG00000141519 8 0 0 7 7 50 CHD3 0 genome.wustl.edu 37 17 7802494 7802494 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 7802494 7802494 G A SNP CHD3 ENST00000330494 human ensembl 74_37 +1 known missense c.2317 p.V773I 1.000 pfam_SNF2_N,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD3 HGNC ENSG00000170004 156 0 0 130 9 6.47482 SLC26A11 0 genome.wustl.edu 37 17 78226455 78226455 + Missense_Mutation SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 78226455 78226455 G T SNP SLC26A11 ENST00000361193 human ensembl 74_37 +1 known missense c.1761 p.Q587H 0.959 NULL pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom - no_errors SLC26A11 HGNC ENSG00000181045 90 0 0 60 6 9.09091 RNF213 0 genome.wustl.edu 37 17 78293236 78293236 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 78293236 78293236 T C SNP RNF213 ENST00000319921 human ensembl 74_37 +1 known missense c.3148 p.W1050R 0.000 NULL NULL - no_errors RNF213 HGNC ENSG00000173821 116 0 0 63 30 32.2581 RNF213 0 genome.wustl.edu 37 17 78337430 78337430 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 78337430 78337430 A G SNP RNF213 ENST00000582970 human ensembl 74_37 +1 known missense c.11590 p.M3864V 0.000 superfamily_P-loop_NTPase superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 44 0 0 17 14 45.1613 TRAPPC1 0 genome.wustl.edu 37 17 7834329 7834329 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 7834329 7834329 C T SNP TRAPPC1 ENST00000303731 human ensembl 74_37 -1 known silent c.309 p.A103 1.000 pfam_Sybindin,superfamily_Longin-like_dom pfam_Sybindin,superfamily_Longin-like_dom - no_errors TRAPPC1 HGNC ENSG00000170043 98 0 0 40 33 45.2055 CNTROB 0 genome.wustl.edu 37 17 7847812 7847812 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 7847812 7847812 G A SNP CNTROB ENST00000380262 human ensembl 74_37 +1 known silent c.1590 p.A530 0.072 NULL NULL - no_errors CNTROB HGNC ENSG00000170037 45 0 0 23 19 45.2381 CNTROB 0 genome.wustl.edu 37 17 7850958 7850958 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 7850958 7850958 A G SNP CNTROB ENST00000380262 human ensembl 74_37 +1 known missense c.2063 p.D688G 0.964 NULL NULL - no_errors CNTROB HGNC ENSG00000170037 203 0 0 164 20 10.8696 AZI1 0 genome.wustl.edu 37 17 79166624 79166624 + Nonsense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 79166624 79166624 G A SNP AZI1 ENST00000269392 human ensembl 74_37 -1 known nonsense c.2350 p.Q784* 1.000 NULL superfamily_t-SNARE - no_errors AZI1 HGNC ENSG00000141577 32 0 0 19 13 40.625 ENTHD2 0 genome.wustl.edu 37 17 79202746 79202746 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 79202746 79202746 G A SNP ENTHD2 ENST00000300714 human ensembl 74_37 -1 known silent c.1560 p.F520 0.803 NULL pfam_Epsin_dom_N,superfamily_ENTH_VHS - no_errors ENTHD2 HGNC ENSG00000167302 48 0 0 34 11 24.4444 ENTHD2 0 genome.wustl.edu 37 17 79207478 79207478 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 79207478 79207478 C T SNP ENTHD2 ENST00000300714 human ensembl 74_37 -1 known silent c.414 p.P138 0.000 NULL pfam_Epsin_dom_N,superfamily_ENTH_VHS - no_errors ENTHD2 HGNC ENSG00000167302 17 0 0 13 6 31.5789 PPP1R27 0 genome.wustl.edu 37 17 79792733 79792733 + Missense_Mutation SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 79792733 79792733 G T SNP PPP1R27 ENST00000330261 human ensembl 74_37 -1 known missense c.97 p.L33M 1.000 superfamily_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors PPP1R27 HGNC ENSG00000182676 46 0 0 26 21 44.6809 FASN 0 genome.wustl.edu 37 17 80044984 80044984 + Silent SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 80044984 80044984 C A SNP FASN ENST00000306749 human ensembl 74_37 -1 known silent c.3369 p.T1123 0.803 NULL pfam_Acyl_transferase,pfam_Ketoacyl_synth_N,pfam_Thioesterase,pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,pfam_Ketoacyl_synth_C,pfam_ADH_C,pfam_Acyl_carrier_prot-like,pfam_Methyltransf_12,pfam_Methyltransf_11,superfamily_Thiolase-like,superfamily_Acyl_Trfase/lysoPLipase,superfamily_GroES-like,superfamily_Acyl_carrier_prot-like,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_Beta-ketoAc_synthase_dom,smart_PKS_acyl_transferase,smart_PKS_dehydratase,smart_PKS_ER,smart_PKS/FAS_KR,smart_PKS_PP-bd,pfscan_Acyl_carrier_prot-like - no_errors FASN HGNC ENSG00000169710 27 0 0 28 10 26.3158 SLC16A3 0 genome.wustl.edu 37 17 80195293 80195293 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 80195293 80195293 G A SNP SLC16A3 ENST00000392339 human ensembl 74_37 +1 known missense c.647 p.R216H 0.159 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt - no_errors SLC16A3 HGNC ENSG00000141526 9 0 0 9 4 30.7692 FOXK2 0 genome.wustl.edu 37 17 80543922 80543922 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 80543922 80543922 C T SNP FOXK2 ENST00000335255 human ensembl 74_37 +1 known silent c.1422 p.V474 0.986 NULL pfam_TF_fork_head,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_TF_fork_head,pfscan_FHA_dom,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXK2 HGNC ENSG00000141568 58 0 0 41 15 26.7857 SLC25A35 0 genome.wustl.edu 37 17 8195898 8195898 + Silent SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 8195898 8195898 T C SNP SLC25A35 ENST00000577745 human ensembl 74_37 -1 known silent c.384 p.T128 0.994 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A35 HGNC ENSG00000125434 127 0 0 80 52 39.3939 MYH10 0 genome.wustl.edu 37 17 8445466 8445466 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 8445466 8445466 C T SNP MYH10 ENST00000396239 human ensembl 74_37 -1 known missense c.1534 p.G512R 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH10 HGNC ENSG00000133026 89 0 0 70 7 9.09091 MYH10 0 genome.wustl.edu 37 17 8449960 8449960 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 8449960 8449960 G A SNP MYH10 ENST00000396239 human ensembl 74_37 -1 known missense c.1150 p.L384F 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH10 HGNC ENSG00000133026 70 0 0 40 9 18.3673 STX8 0 genome.wustl.edu 37 17 9408353 9408353 + Splice_Site SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 9408353 9408353 A G SNP STX8 ENST00000306357 human ensembl 74_37 -1 known splice_site c.448+2 e5+2 1.000 - - - no_errors STX8 HGNC ENSG00000170310 125 0 0 91 9 9 IMPA2 0 genome.wustl.edu 37 18 12014330 12014330 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 18 12014330 12014330 G A SNP IMPA2 ENST00000269159 human ensembl 74_37 +1 known missense c.448 p.A150T 0.994 pfam_Inositol_monophosphatase,prints_Inositol_monophosphatase,prints_Inositol_monoPase_Li-sen pfam_Inositol_monophosphatase,prints_Inositol_monophosphatase,prints_Inositol_monoPase_Li-sen - no_errors IMPA2 HGNC ENSG00000141401 32 0 0 11 7 38.8889 CEP192 0 genome.wustl.edu 37 18 13068413 13068413 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 18 13068413 13068413 G A SNP CEP192 ENST00000506447 human ensembl 74_37 +1 known missense c.4814 p.S1605N 0.027 NULL NULL - no_errors CEP192 HGNC ENSG00000101639 61 0 0 25 12 32.4324 FAM210A 0 genome.wustl.edu 37 18 13682035 13682035 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 18 13682035 13682035 G A SNP FAM210A ENST00000322247 human ensembl 74_37 -1 known silent c.42 p.R14 0.463 NULL pfam_DUF1279 - no_errors FAM210A HGNC ENSG00000177150 146 0 0 68 40 37.037 MC2R 0 genome.wustl.edu 37 18 13884978 13884978 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 18 13884978 13884978 C T SNP MC2R ENST00000327606 human ensembl 74_37 -1 known silent c.540 p.S180 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ACTH_rcpt,prints_Melcrt_ACTH_rcpt,prints_GPCR_Rhodpsn - no_errors MC2R HGNC ENSG00000185231 103 0 0 61 42 40.7767 ROCK1 0 genome.wustl.edu 37 18 18547719 18547719 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 18 18547719 18547719 C T SNP ROCK1 ENST00000399799 human ensembl 74_37 -1 known missense c.3186 p.M1062I 1.000 pirsf_Rho-assoc_coiled-coil_kin pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Rho-bd_dom,pfam_HR1_rho-bd,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors ROCK1 HGNC ENSG00000067900 245 0 0 148 16 9.7561 ROCK1 0 genome.wustl.edu 37 18 18564319 18564319 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 18 18564319 18564319 G A SNP ROCK1 ENST00000399799 human ensembl 74_37 -1 known missense c.2482 p.L828F 1.000 pirsf_Rho-assoc_coiled-coil_kin pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Rho-bd_dom,pfam_HR1_rho-bd,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors ROCK1 HGNC ENSG00000067900 47 0 0 24 14 36.8421 ROCK1 0 genome.wustl.edu 37 18 18619444 18619444 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 18 18619444 18619444 G A SNP ROCK1 ENST00000399799 human ensembl 74_37 -1 known missense c.1040 p.T347M 1.000 superfamily_Kinase-like_dom,smart_AGC-kinase_C,pirsf_Rho-assoc_coiled-coil_kin pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Rho-bd_dom,pfam_HR1_rho-bd,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors ROCK1 HGNC ENSG00000067900 48 0 0 27 10 27.027 ANKRD29 0 genome.wustl.edu 37 18 21218839 21218839 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 18 21218839 21218839 C T SNP ANKRD29 ENST00000592179 human ensembl 74_37 -1 known missense c.304 p.G102R 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD29 HGNC ENSG00000154065 72 0 0 45 7 13.4615 OSBPL1A 0 genome.wustl.edu 37 18 21761173 21761173 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 18 21761173 21761173 T C SNP OSBPL1A ENST00000319481 human ensembl 74_37 -1 known missense c.1748 p.Y583C 1.000 pfam_Oxysterol-bd pfam_Oxysterol-bd,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pleckstrin_homology,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,prints_Ankyrin_rpt - no_errors OSBPL1A HGNC ENSG00000141447 35 0 0 21 10 32.2581 IMPACT 0 genome.wustl.edu 37 18 22007894 22007894 + Silent SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 18 22007894 22007894 T C SNP IMPACT ENST00000284202 human ensembl 74_37 +1 known silent c.48 p.I16 1.000 pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,pfscan_RWD-domain pfam_Impact_N,pfam_RWD-domain,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,pfscan_RWD-domain - no_errors IMPACT HGNC ENSG00000154059 152 0 0 86 5 5.49451 DSG1 0 genome.wustl.edu 37 18 28914054 28914054 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 18 28914054 28914054 G A SNP DSG1 ENST00000257192 human ensembl 74_37 +1 known silent c.894 p.E298 0.325 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Desmoglein,prints_Cadherin,prints_Desmosomal_cadherin - no_errors DSG1 HGNC ENSG00000134760 123 0 0 77 7 8.33333 DSG2 0 genome.wustl.edu 37 18 29122692 29122692 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 18 29122692 29122692 C T SNP DSG2 ENST00000261590 human ensembl 74_37 +1 known silent c.2211 p.G737 0.002 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmosomal_cadherin - no_errors DSG2 HGNC ENSG00000046604 144 0 0 91 25 21.5517 DSG2 0 genome.wustl.edu 37 18 29126573 29126573 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 18 29126573 29126573 C T SNP DSG2 ENST00000261590 human ensembl 74_37 +1 known missense c.3224 p.T1075M 0.000 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmosomal_cadherin - no_errors DSG2 HGNC ENSG00000046604 159 0 0 75 28 27.1845 RNF138 0 genome.wustl.edu 37 18 29693731 29693731 + Silent SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 18 29693731 29693731 T C SNP RNF138 ENST00000261593 human ensembl 74_37 +1 known silent c.300 p.H100 1.000 NULL pfam_Znf_MIZ,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF138 HGNC ENSG00000134758 46 0 0 22 5 18.5185 WBP11P1 0 genome.wustl.edu 37 18 30092740 30092740 + RNA SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 18 30092740 30092740 A G SNP WBP11P1 ENST00000567636 human ensembl 74_37 +1 known rna NULL NULL 0.988 - - - no_errors WBP11P1 HGNC ENSG00000260389 48 0 0 32 8 20 KLHL14 0 genome.wustl.edu 37 18 30260437 30260437 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 18 30260437 30260437 G A SNP KLHL14 ENST00000359358 human ensembl 74_37 -1 known missense c.1364 p.S455F 1.000 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL14 HGNC ENSG00000197705 154 0 0 83 22 20.9524 MYL12B 0 genome.wustl.edu 37 18 3277796 3277796 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 18 3277796 3277796 T C SNP MYL12B ENST00000237500 human ensembl 74_37 +1 known missense c.380 p.L127P 1.000 smart_EF_hand_dom,pfscan_EF_hand_dom pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors MYL12B HGNC ENSG00000118680 54 0 0 19 14 42.4242 RPRD1A 0 genome.wustl.edu 37 18 33613688 33613688 + Silent SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 18 33613688 33613688 A G SNP RPRD1A ENST00000357384 human ensembl 74_37 -1 known silent c.264 p.A88 0.998 pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,smart_CID_dom pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,smart_CID_dom - no_errors RPRD1A HGNC ENSG00000141425 69 0 0 50 6 10.7143 MOCOS 0 genome.wustl.edu 37 18 33785130 33785130 + Missense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 18 33785130 33785130 C A SNP MOCOS ENST00000261326 human ensembl 74_37 +1 known missense c.1109 p.P370H 0.327 pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase pfam_MOSC_N,pfam_MoCF_Sase_C,pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase,superfamily_Pyrv_Knase-like_insert_dom - no_errors MOCOS HGNC ENSG00000075643 103 0 0 92 13 12.381 FHOD3 0 genome.wustl.edu 37 18 34349257 34349257 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 18 34349257 34349257 G A SNP FHOD3 ENST00000257209 human ensembl 74_37 +1 known missense c.4105 p.D1369N 0.998 NULL pfam_FH2_Formin,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors FHOD3 HGNC ENSG00000134775 108 0 0 51 36 41.3793 CELF4 0 genome.wustl.edu 37 18 34853000 34853000 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 18 34853000 34853000 C T SNP CELF4 ENST00000420428 human ensembl 74_37 -1 known missense c.928 p.A310T 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CELF4 HGNC ENSG00000101489 60 0 0 46 31 40.2597 SLC14A1 0 genome.wustl.edu 37 18 43311062 43311062 + Silent SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 18 43311062 43311062 A G SNP SLC14A1 ENST00000415427 human ensembl 74_37 +1 known silent c.402 p.G134 0.556 pfam_Urea_transporter pfam_Urea_transporter - no_errors SLC14A1 HGNC ENSG00000141469 99 0 0 70 14 16.6667 ST8SIA5 0 genome.wustl.edu 37 18 44260339 44260339 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 18 44260339 44260339 T C SNP ST8SIA5 ENST00000315087 human ensembl 74_37 -1 known missense c.797 p.D266G 1.000 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST8SIA5 HGNC ENSG00000101638 34 0 0 26 20 43.4783 LIPG 0 genome.wustl.edu 37 18 47110024 47110024 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 18 47110024 47110024 C T SNP LIPG ENST00000261292 human ensembl 74_37 +1 known missense c.1256 p.A419V 0.000 pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pirsf_Lipoprotein_lipase_LIPH,pfscan_PLAT/LH2_dom pfam_Lipase_N,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pirsf_Lipoprotein_lipase_LIPH,pfscan_PLAT/LH2_dom,prints_Lipase,prints_Lipo_Lipase,prints_Lipase_hep - no_errors LIPG HGNC ENSG00000101670 115 0 0 42 33 44 MYO5B 0 genome.wustl.edu 37 18 47463722 47463722 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 18 47463722 47463722 G A SNP MYO5B ENST00000285039 human ensembl 74_37 -1 known missense c.1798 p.P600S 0.552 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO5B HGNC ENSG00000167306 95 0 0 36 29 44.6154 MBD1 0 genome.wustl.edu 37 18 47800112 47800112 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 18 47800112 47800112 G A SNP MBD1 ENST00000424334 human ensembl 74_37 -1 known missense c.1421 p.P474L 0.000 NULL pfam_Znf_CXXC,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_CXXC - no_errors MBD1 HGNC ENSG00000141644 152 0 0 70 61 46.5649 CXXC1 0 genome.wustl.edu 37 18 47811498 47811498 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 18 47811498 47811498 C T SNP CXXC1 ENST00000412036 human ensembl 74_37 -1 known silent c.786 p.A262 0.004 NULL pfam_CpG-bd_C,pfam_Znf_CXXC,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors CXXC1 HGNC ENSG00000154832 82 0 0 68 4 5.55556 ELAC1 0 genome.wustl.edu 37 18 48513066 48513066 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 18 48513066 48513066 C T SNP ELAC1 ENST00000269466 human ensembl 74_37 +1 known missense c.703 p.P235S 1.000 tigrfam_RNase_Z pfam_Beta-lactamas-like,tigrfam_RNase_Z - no_errors ELAC1 HGNC ENSG00000141642 88 0 0 37 13 26 SMAD4 0 genome.wustl.edu 37 18 48603108 48603108 + Missense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 18 48603108 48603108 C A SNP SMAD4 ENST00000342988 human ensembl 74_37 +1 known missense c.1409 p.P470H 1.000 pfam_SMAD_dom_Dwarfin-type,superfamily_SMAD_FHA_domain,smart_SMAD_dom_Dwarfin-type,pfscan_SMAD_dom_Dwarfin-type pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD4 HGNC ENSG00000141646 62 0 0 38 14 26.9231 STARD6 0 genome.wustl.edu 37 18 51880423 51880423 + Splice_Site SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 18 51880423 51880423 C T SNP STARD6 ENST00000307844 human ensembl 74_37 -1 known splice_site c.140+1 e2+1 1.000 - - - no_errors STARD6 HGNC ENSG00000174448 87 0 0 29 6 17.1429 RAB27B 0 genome.wustl.edu 37 18 52556537 52556537 + Nonsense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 18 52556537 52556537 C T SNP RAB27B ENST00000262094 human ensembl 74_37 +1 known nonsense c.550 p.R184* 1.000 superfamily_P-loop_NTPase,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Ras,smart_Ran_GTPase pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Ras,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB27B HGNC ENSG00000041353 77 0 0 42 4 8.69565 EPB41L3 0 genome.wustl.edu 37 18 5489033 5489033 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 18 5489033 5489033 G A SNP EPB41L3 ENST00000341928 human ensembl 74_37 -1 known silent c.150 p.A50 0.000 pirsf_Band_41_protein pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB_dom,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors EPB41L3 HGNC ENSG00000082397 31 0 0 26 21 44.6809 ST8SIA3 0 genome.wustl.edu 37 18 55020105 55020105 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 18 55020105 55020105 G A SNP ST8SIA3 ENST00000324000 human ensembl 74_37 +1 known missense c.28 p.A10T 1.000 pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST8SIA3 HGNC ENSG00000177511 56 0 0 33 3 8.33333 ALPK2 0 genome.wustl.edu 37 18 56203450 56203450 + Silent SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 18 56203450 56203450 T C SNP ALPK2 ENST00000361673 human ensembl 74_37 -1 known silent c.3969 p.V1323 0.000 NULL pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like_dom - no_errors ALPK2 HGNC ENSG00000198796 112 1 0.884956 42 33 44 ALPK2 0 genome.wustl.edu 37 18 56204901 56204901 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 18 56204901 56204901 T C SNP ALPK2 ENST00000361673 human ensembl 74_37 -1 known missense c.2518 p.T840A 0.107 NULL pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like_dom - no_errors ALPK2 HGNC ENSG00000198796 74 0 0 21 20 48.7805 GRP 0 genome.wustl.edu 37 18 56892894 56892894 + Missense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 18 56892894 56892894 C A SNP GRP ENST00000256857 human ensembl 74_37 +1 known missense c.310 p.L104M 0.075 NULL pfam_Bombesin - no_errors GRP HGNC ENSG00000134443 156 0 0 72 58 44.6154 GRP 0 genome.wustl.edu 37 18 56892898 56892898 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 18 56892898 56892898 G A SNP GRP ENST00000256857 human ensembl 74_37 +1 known missense c.314 p.G105D 0.057 NULL pfam_Bombesin - no_errors GRP HGNC ENSG00000134443 155 0 0 106 24 18.4615 CPLX4 0 genome.wustl.edu 37 18 56964004 56964004 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 18 56964004 56964004 T C SNP CPLX4 ENST00000299721 human ensembl 74_37 -1 known missense c.409 p.T137A 0.917 pfam_Synaphin pfam_Synaphin - no_errors CPLX4 HGNC ENSG00000166569 36 0 0 18 12 40 CETN1 0 genome.wustl.edu 37 18 580690 580690 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 18 580690 580690 G A SNP CETN1 ENST00000327228 human ensembl 74_37 +1 known silent c.282 p.T94 0.022 pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors CETN1 HGNC ENSG00000177143 65 0 0 45 25 35.7143 CDH20 0 genome.wustl.edu 37 18 59206373 59206373 + Nonsense_Mutation SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 18 59206373 59206373 G T SNP CDH20 ENST00000262717 human ensembl 74_37 +1 known nonsense c.1525 p.G509* 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 CDH20 HGNC ENSG00000101542 204 0 0 60 35 36.8421 BCL2 0 genome.wustl.edu 37 18 60985558 60985558 + Missense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 18 60985558 60985558 C A SNP BCL2 ENST00000333681 human ensembl 74_37 -1 known missense c.342 p.E114D 1.000 pfam_Blc2_fam,pfscan_Bcl2-like,prints_Apop_reg_BclX,tigrfam_Bcl2/BclX pfam_Blc2_fam,pfam_Bcl2_BH4,smart_Bcl2_BH4,pfscan_Bcl2-like,pfscan_Bcl2_BH4,prints_Apop_reg_Bcl2,prints_Blc2_fam,prints_Apop_reg_BclX,tigrfam_Bcl2/BclX - no_errors BCL2 HGNC ENSG00000171791 77 0 0 85 10 10.5263 SERPINB11 0 genome.wustl.edu 37 18 61390517 61390517 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 18 61390517 61390517 G A SNP SERPINB11 ENST00000536691 human ensembl 74_37 +1 known missense c.538 p.A180T 0.000 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINB11 HGNC ENSG00000206072 74 0 0 50 28 35.8974 LAMA1 0 genome.wustl.edu 37 18 6995425 6995425 + Missense_Mutation SNP A A T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 18 6995425 6995425 A T SNP LAMA1 ENST00000389658 human ensembl 74_37 -1 known missense c.4827 p.N1609K 0.002 pfam_Laminin_I pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA1 HGNC ENSG00000101680 65 0 0 25 16 39.0244 LAMA1 0 genome.wustl.edu 37 18 7037643 7037643 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 18 7037643 7037643 G A SNP LAMA1 ENST00000389658 human ensembl 74_37 -1 known silent c.1671 p.T557 0.001 pfscan_Laminin_B_type_IV pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA1 HGNC ENSG00000101680 107 0 0 52 26 33.3333 ZNF516 0 genome.wustl.edu 37 18 74091570 74091570 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 18 74091570 74091570 G A SNP ZNF516 ENST00000443185 human ensembl 74_37 -1 known missense c.2500 p.R834W 0.005 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF516 HGNC ENSG00000101493 136 0 0 58 27 31.7647 ZNF236 0 genome.wustl.edu 37 18 74592217 74592217 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 18 74592217 74592217 C T SNP ZNF236 ENST00000253159 human ensembl 74_37 +1 known missense c.1127 p.P376L 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF236 HGNC ENSG00000130856 48 0 0 27 16 37.2093 ZNF236 0 genome.wustl.edu 37 18 74639294 74639294 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 18 74639294 74639294 C T SNP ZNF236 ENST00000253159 human ensembl 74_37 +1 known missense c.4229 p.T1410M 0.001 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF236 HGNC ENSG00000130856 124 0 0 80 9 10.1124 ZNF236 0 genome.wustl.edu 37 18 74668077 74668077 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 18 74668077 74668077 G A SNP ZNF236 ENST00000253159 human ensembl 74_37 +1 known missense c.5045 p.R1682Q 0.677 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF236 HGNC ENSG00000130856 8 0 0 3 4 57.1429 SALL3 0 genome.wustl.edu 37 18 76754387 76754387 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 18 76754387 76754387 A G SNP SALL3 ENST00000537592 human ensembl 74_37 +1 known missense c.2396 p.D799G 0.997 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL3 HGNC ENSG00000256463 44 0 0 28 18 39.1304 SALL3 0 genome.wustl.edu 37 18 76757282 76757282 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 18 76757282 76757282 C T SNP SALL3 ENST00000537592 human ensembl 74_37 +1 known missense c.3863 p.T1288M 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL3 HGNC ENSG00000256463 218 0 0 121 85 41.2621 KCNG2 0 genome.wustl.edu 37 18 77623816 77623816 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 18 77623816 77623816 G A SNP KCNG2 ENST00000316249 human ensembl 74_37 +1 known missense c.149 p.R50H 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv9 pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv - no_errors KCNG2 HGNC ENSG00000178342 8 0 0 11 9 45 KCNG2 0 genome.wustl.edu 37 18 77623926 77623926 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 18 77623926 77623926 G A SNP KCNG2 ENST00000316249 human ensembl 74_37 +1 known missense c.259 p.A87T 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv9 pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv - no_errors KCNG2 HGNC ENSG00000178342 19 0 0 13 7 35 KCNG2 0 genome.wustl.edu 37 18 77659196 77659196 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 18 77659196 77659196 C T SNP KCNG2 ENST00000316249 human ensembl 74_37 +1 known missense c.781 p.P261S 1.000 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_Kv6,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv - no_errors KCNG2 HGNC ENSG00000178342 42 0 0 32 8 20 KCNG2 0 genome.wustl.edu 37 18 77659756 77659756 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 18 77659756 77659756 C T SNP KCNG2 ENST00000316249 human ensembl 74_37 +1 known silent c.1341 p.P447 0.001 NULL pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv - no_errors KCNG2 HGNC ENSG00000178342 22 0 0 16 8 33.3333 RBFA 0 genome.wustl.edu 37 18 77804249 77804249 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 18 77804249 77804249 G A SNP RBFA ENST00000306735 human ensembl 74_37 +1 known missense c.614 p.R205Q 0.000 NULL pfam_Ribosome-bd_facA,superfamily_Ribosome-bd_facA_dom - no_errors RBFA HGNC ENSG00000101546 134 0 0 65 31 32.2917 PARD6G 0 genome.wustl.edu 37 18 77960807 77960807 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 18 77960807 77960807 C T SNP PARD6G ENST00000353265 human ensembl 74_37 -1 known silent c.81 p.A27 0.291 pfam_OPR_PB1,smart_OPR_PB1 pfam_OPR_PB1,pfam_PDZ,superfamily_PDZ,smart_OPR_PB1,smart_PDZ,pfscan_PDZ - no_errors PARD6G HGNC ENSG00000178184 41 0 0 12 10 45.4545 SOGA2 0 genome.wustl.edu 37 18 8825900 8825900 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 18 8825900 8825900 G A SNP SOGA2 ENST00000359865 human ensembl 74_37 +1 known silent c.4392 p.L1464 0.000 NULL pfam_SOGA - no_errors SOGA2 HGNC ENSG00000168502 51 0 0 27 35 56.4516 PPP4R1 0 genome.wustl.edu 37 18 9583131 9583131 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 18 9583131 9583131 C T SNP PPP4R1 ENST00000400556 human ensembl 74_37 -1 known missense c.902 p.S301N 1.000 pfam_HEAT,superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors PPP4R1 HGNC ENSG00000154845 73 0 0 36 19 34.5455 PPAN-P2RY11 0 genome.wustl.edu 37 19 10225287 10225287 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 10225287 10225287 G A SNP PPAN-P2RY11 ENST00000393796 human ensembl 74_37 +1 known missense c.2258 p.R753Q 0.001 NULL pfam_Brix,pfam_GPCR_Rhodpsn,superfamily_Anticodon-bd,smart_Brix,prints_GPCR_Rhodpsn,pfscan_Brix,pfscan_GPCR_Rhodpsn_7TM - no_errors PPAN-P2RY11 HGNC ENSG00000243207 69 0 0 65 5 7.14286 MRPL4 0 genome.wustl.edu 37 19 10367427 10367427 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 10367427 10367427 G A SNP MRPL4 ENST00000253099 human ensembl 74_37 +1 known missense c.371 p.G124D 1.000 pfam_Ribosomal_L4/L1e,superfamily_Ribosomal_L4_dom,tigrfam_Ribosomal_L4/L1e_bac-type pfam_Ribosomal_L4/L1e,superfamily_Ribosomal_L4_dom,tigrfam_Ribosomal_L4/L1e_bac-type - no_errors MRPL4 HGNC ENSG00000105364 165 0 0 110 65 37.1429 HMHA1 0 genome.wustl.edu 37 19 1068656 1068656 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 1068656 1068656 G A SNP HMHA1 ENST00000313093 human ensembl 74_37 +1 known missense c.334 p.V112I 0.025 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_FCH_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom - no_errors HMHA1 HGNC ENSG00000180448 73 0 0 57 28 32.9412 SLC44A2 0 genome.wustl.edu 37 19 10747092 10747092 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 10747092 10747092 C T SNP SLC44A2 ENST00000335757 human ensembl 74_37 +1 known silent c.1327 p.L443 1.000 pfam_Choline_transptr-like pfam_Choline_transptr-like - no_errors SLC44A2 HGNC ENSG00000129353 125 0 0 121 14 10.3704 SMARCA4 0 genome.wustl.edu 37 19 11096942 11096942 + Missense_Mutation SNP A A T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 11096942 11096942 A T SNP SMARCA4 ENST00000358026 human ensembl 74_37 +1 known missense c.433 p.M145L 1.000 NULL pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,prints_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain - no_errors SMARCA4 HGNC ENSG00000127616 52 0 0 37 20 35.0877 SMARCA4 0 genome.wustl.edu 37 19 11100064 11100064 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 11100064 11100064 G A SNP SMARCA4 ENST00000358026 human ensembl 74_37 +1 known missense c.1190 p.R397Q 1.000 NULL pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,prints_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain - no_errors SMARCA4 HGNC ENSG00000127616 111 0 0 83 40 32.5203 SMARCA4 0 genome.wustl.edu 37 19 11144499 11144499 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 11144499 11144499 G A SNP SMARCA4 ENST00000358026 human ensembl 74_37 +1 known silent c.3831 p.P1277 1.000 NULL pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,prints_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain - no_errors SMARCA4 HGNC ENSG00000127616 37 0 0 17 20 54.0541 LDLR 0 genome.wustl.edu 37 19 11218190 11218190 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 11218190 11218190 G A SNP LDLR ENST00000558518 human ensembl 74_37 +1 known missense c.940 p.G314R 0.958 superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LDLR HGNC ENSG00000130164 70 0 0 66 11 14.2857 LDLR 0 genome.wustl.edu 37 19 11241983 11241983 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 11241983 11241983 C T SNP LDLR ENST00000557933 human ensembl 74_37 +1 novel missense c.2636 p.T879M 0.001 NULL pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LDLR HGNC ENSG00000130164 144 0 0 91 45 33.0882 KANK2 0 genome.wustl.edu 37 19 11280723 11280723 + Splice_Site SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 11280723 11280723 C T SNP KANK2 ENST00000432929 human ensembl 74_37 -1 known splice_site c.2436+1 e9+1 1.000 - - - no_errors KANK2 HGNC ENSG00000197256 110 0 0 87 47 35.0746 RGL3 0 genome.wustl.edu 37 19 11510959 11510959 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 11510959 11510959 C T SNP RGL3 ENST00000393423 human ensembl 74_37 -1 known missense c.1499 p.R500Q 0.998 superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_Ras-assoc,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RGL3 HGNC ENSG00000205517 70 0 0 49 4 7.54717 PRKCSH 0 genome.wustl.edu 37 19 11548910 11548910 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 11548910 11548910 G A SNP PRKCSH ENST00000252455 human ensembl 74_37 +1 known silent c.315 p.E105 0.999 superfamily_LDrepeatLR_classA_rpt pfam_PRKCSH,superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_LDrepeatLR_classA_rpt,pfscan_EF_hand_dom - no_errors PRKCSH HGNC ENSG00000130175 44 0 0 42 4 8.69565 ECSIT 0 genome.wustl.edu 37 19 11618361 11618361 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 11618361 11618361 G A SNP ECSIT ENST00000270517 human ensembl 74_37 -1 known missense c.962 p.P321L 0.001 NULL pfam_ECSIT - no_errors ECSIT HGNC ENSG00000130159 70 0 0 46 32 41.0256 ZNF433 0 genome.wustl.edu 37 19 12128716 12128716 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 12128716 12128716 A G SNP ZNF433 ENST00000344980 human ensembl 74_37 -1 known missense c.175 p.Y59H 0.018 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 ZNF433 HGNC ENSG00000197647 19 0 0 9 9 50 ATP5D 0 genome.wustl.edu 37 19 1241936 1241936 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 1241936 1241936 G A SNP ATP5D ENST00000215375 human ensembl 74_37 +1 known silent c.87 p.P29 0.932 NULL pfam_ATPase_F1-cplx_dsu/esu_N,superfamily_ATPase_F1-cplx_dsu/esu_N,superfamily_ATPase_F1_dsu/esu_C,tigrfam_ATPase_F1-cplx_dsu/esu - no_errors ATP5D HGNC ENSG00000099624 32 0 0 29 5 14.7059 MAN2B1 0 genome.wustl.edu 37 19 12774228 12774228 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 12774228 12774228 A G SNP MAN2B1 ENST00000456935 human ensembl 74_37 -1 known missense c.812 p.V271A 0.001 pfam_Glyco_hydro_38_N,superfamily_Glyco_hydro/deAcase_b/a-brl pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_N,pfam_Glyco_hydro_38_cen_dom,superfamily_Gal_mutarotase_SF_dom,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom - no_errors MAN2B1 HGNC ENSG00000104774 82 0 0 43 32 42.6667 WDR83OS 0 genome.wustl.edu 37 19 12779388 12779388 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 12779388 12779388 C T SNP WDR83OS ENST00000596731 human ensembl 74_37 -1 known missense c.200 p.S67N 1.000 pfam_UPF0139 pfam_UPF0139 - no_errors WDR83OS HGNC ENSG00000105583 42 0 0 21 15 41.6667 HOOK2 0 genome.wustl.edu 37 19 12882020 12882020 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 12882020 12882020 C T SNP HOOK2 ENST00000397668 human ensembl 74_37 -1 known silent c.714 p.L238 0.983 pfam_Hook-related_fam pfam_Hook-related_fam,superfamily_UBA-like - no_errors HOOK2 HGNC ENSG00000095066 22 0 0 11 10 47.619 RNASEH2A 0 genome.wustl.edu 37 19 12918244 12918244 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 12918244 12918244 A G SNP RNASEH2A ENST00000221486 human ensembl 74_37 +1 known missense c.335 p.N112S 1.000 pfam_RNase_HII/HIII_dom,superfamily_RNaseH-like_dom,tigrfam_RNase_H2_suA pfam_RNase_HII/HIII_dom,superfamily_RNaseH-like_dom,tigrfam_RNase_H2_suA - no_errors RNASEH2A HGNC ENSG00000104889 100 1 0.990099 52 35 40.2299 TRMT1 0 genome.wustl.edu 37 19 13223557 13223557 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 13223557 13223557 C T SNP TRMT1 ENST00000357720 human ensembl 74_37 -1 known missense c.832 p.G278R 1.000 pfam_TRM1,tigrfam_TRM1 pfam_TRM1,pfam_Znf_CCCH,pfam_tRNA_Trfase_Trm5/Tyw2,smart_Znf_CCCH,tigrfam_TRM1 - no_errors TRMT1 HGNC ENSG00000104907 96 0 0 71 25 26.0417 CACNA1A 0 genome.wustl.edu 37 19 13363878 13363878 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 13363878 13363878 C T SNP CACNA1A ENST00000360228 human ensembl 74_37 -1 known missense c.4793 p.R1598Q 0.055 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su - no_errors CACNA1A HGNC ENSG00000141837 75 0 0 48 31 39.2405 CACNA1A 0 genome.wustl.edu 37 19 13418941 13418941 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 13418941 13418941 C T SNP CACNA1A ENST00000360228 human ensembl 74_37 -1 known missense c.1906 p.G636S 1.000 pfam_Ion_trans_dom,pfam_PKD1_2_channel pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su - no_errors CACNA1A HGNC ENSG00000141837 40 0 0 50 5 9.09091 CCDC130 0 genome.wustl.edu 37 19 13869968 13869968 + Missense_Mutation SNP G G C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 13869968 13869968 G C SNP CCDC130 ENST00000221554 human ensembl 74_37 +1 known missense c.455 p.G152A 0.975 pfam_CWC16 pfam_CWC16 - no_errors CCDC130 HGNC ENSG00000104957 25 0 0 27 5 15.625 NANOS3 0 genome.wustl.edu 37 19 13991390 13991390 + RNA SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 13991390 13991390 G A SNP NANOS3 ENST00000591161 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors NANOS3 HGNC ENSG00000187556 42 0 0 27 6 18.1818 LPHN1 0 genome.wustl.edu 37 19 14281569 14281569 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 14281569 14281569 C T SNP LPHN1 ENST00000340736 human ensembl 74_37 -1 known missense c.319 p.G107S 1.000 pfam_Lectin_gal-bd_dom,pfscan_Lectin_gal-bd_dom pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like - no_errors LPHN1 HGNC ENSG00000072071 36 0 0 13 6 31.5789 PCSK4 0 genome.wustl.edu 37 19 1483346 1483346 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 1483346 1483346 C T SNP PCSK4 ENST00000300954 human ensembl 74_37 -1 known missense c.1508 p.R503H 1.000 pfam_PrprotnconvertsP,superfamily_Galactose-bd-like pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK4 HGNC ENSG00000115257 44 0 0 25 6 19.3548 SLC1A6 0 genome.wustl.edu 37 19 15072900 15072900 + Silent SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 15072900 15072900 A G SNP SLC1A6 ENST00000221742 human ensembl 74_37 -1 known silent c.849 p.G283 0.698 pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter - no_errors SLC1A6 HGNC ENSG00000105143 145 0 0 68 31 31.3131 CASP14 0 genome.wustl.edu 37 19 15166256 15166256 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 15166256 15166256 G A SNP CASP14 ENST00000221740 human ensembl 74_37 +1 known missense c.536 p.R179Q 1.000 pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pfscan_Pept_C14_p10,prints_Pept_C14A_p45_core pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core - no_errors CASP14 HGNC ENSG00000105141 99 0 0 78 5 6.0241 ILVBL 0 genome.wustl.edu 37 19 15227029 15227029 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 15227029 15227029 C T SNP ILVBL ENST00000263383 human ensembl 74_37 -1 known missense c.1405 p.G469R 0.999 pfam_TPP_enzyme-bd_C pfam_Thiamin_PyroP_enz_TPP-bd_dom,pfam_TPP_enzyme-bd_C,pfam_Thiamin_PyroP_enz_cen_dom - no_errors ILVBL HGNC ENSG00000105135 157 0 0 127 52 29.0503 NOTCH3 0 genome.wustl.edu 37 19 15311612 15311612 + Silent SNP C C G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 15311612 15311612 C G SNP NOTCH3 ENST00000263388 human ensembl 74_37 -1 known silent c.105 p.G35 0.993 pirsf_Notch pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_3,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH3 HGNC ENSG00000074181 8 0 0 6 3 33.3333 BRD4 0 genome.wustl.edu 37 19 15349943 15349943 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 15349943 15349943 G A SNP BRD4 ENST00000263377 human ensembl 74_37 -1 known missense c.3709 p.R1237C 1.000 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD4 HGNC ENSG00000141867 29 0 0 16 9 36 WIZ 0 genome.wustl.edu 37 19 15535132 15535132 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 15535132 15535132 T C SNP WIZ ENST00000389282 human ensembl 74_37 -1 known missense c.4658 p.D1553G 0.925 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors WIZ HGNC ENSG00000011451 63 0 0 39 21 35 WIZ 0 genome.wustl.edu 37 19 15538114 15538114 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 15538114 15538114 C T SNP WIZ ENST00000389282 human ensembl 74_37 -1 known missense c.3331 p.A1111T 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors WIZ HGNC ENSG00000011451 55 0 0 36 23 38.9831 MEX3D 0 genome.wustl.edu 37 19 1556759 1556759 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 1556759 1556759 C T SNP MEX3D ENST00000388824 human ensembl 74_37 -1 known silent c.759 p.T253 0.377 NULL pfam_KH_dom_type_1,smart_KH_dom,pfscan_Znf_RING,pfscan_KH_dom_type_1 - no_errors MEX3D HGNC ENSG00000181588 56 0 0 37 29 43.9394 CYP4F2 0 genome.wustl.edu 37 19 15989614 15989614 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 15989614 15989614 G A SNP CYP4F2 ENST00000221700 human ensembl 74_37 -1 known silent c.1530 p.G510 0.978 superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II - no_errors CYP4F2 HGNC ENSG00000186115 42 0 0 61 5 7.57576 CYP4F11 0 genome.wustl.edu 37 19 16024702 16024702 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 16024702 16024702 G A SNP CYP4F11 ENST00000248041 human ensembl 74_37 -1 known missense c.1415 p.A472V 0.460 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II - no_errors CYP4F11 HGNC ENSG00000171903 24 0 0 19 14 42.4242 CHERP 0 genome.wustl.edu 37 19 16646277 16646277 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 16646277 16646277 G A SNP CHERP ENST00000546361 human ensembl 74_37 -1 known silent c.370 p.L124 1.000 NULL pfam_Surp,pfam_G_patch_dom,pfam_RNA_pol_II-bd,superfamily_Surp,superfamily_ENTH_VHS,smart_Surp,smart_G_patch_dom,pfscan_Surp,pfscan_G_patch_dom - no_errors CHERP HGNC ENSG00000085872 16 0 0 14 8 36.3636 NWD1 0 genome.wustl.edu 37 19 16860883 16860883 + Missense_Mutation SNP A A T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 16860883 16860883 A T SNP NWD1 ENST00000379808 human ensembl 74_37 +1 known missense c.1430 p.D477V 0.000 superfamily_P-loop_NTPase pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NWD1 HGNC ENSG00000188039 137 0 0 65 33 33.6735 MYO9B 0 genome.wustl.edu 37 19 17213187 17213187 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 17213187 17213187 C T SNP MYO9B ENST00000594824 human ensembl 74_37 +1 known silent c.660 p.D220 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom - no_errors MYO9B HGNC ENSG00000099331 156 0 0 84 55 39.5683 MYO9B 0 genome.wustl.edu 37 19 17311596 17311596 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 17311596 17311596 C T SNP MYO9B ENST00000594824 human ensembl 74_37 +1 known silent c.4521 p.N1507 0.929 NULL pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom - no_errors MYO9B HGNC ENSG00000099331 133 0 0 65 51 43.9655 MAP1S 0 genome.wustl.edu 37 19 17836977 17836977 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 17836977 17836977 A G SNP MAP1S ENST00000324096 human ensembl 74_37 +1 known missense c.784 p.T262A 1.000 NULL NULL - no_errors MAP1S HGNC ENSG00000130479 25 0 0 15 9 37.5 ARRDC2 0 genome.wustl.edu 37 19 18119242 18119242 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 18119242 18119242 C T SNP ARRDC2 ENST00000222250 human ensembl 74_37 +1 known silent c.123 p.A41 0.797 pfam_Arrestin-like_N,superfamily_Ig_E-set pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set - no_errors ARRDC2 HGNC ENSG00000105643 21 0 0 18 9 33.3333 JUND 0 genome.wustl.edu 37 19 18391291 18391291 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 18391291 18391291 C T SNP JUND ENST00000252818 human ensembl 74_37 -1 known missense c.1004 p.G335D 1.000 prints_Leuzip_Jun pfam_JNK,pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Jun - no_errors JUND HGNC ENSG00000130522 17 0 0 11 9 45 FKBP8 0 genome.wustl.edu 37 19 18649226 18649226 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 18649226 18649226 G A SNP FKBP8 ENST00000453489 human ensembl 74_37 -1 known missense c.656 p.P219L 0.997 pfam_PPIase_FKBP_dom,pfscan_PPIase_FKBP_dom pfam_PPIase_FKBP_dom,pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_PPIase_FKBP_dom - no_errors FKBP8 HGNC ENSG00000105701 33 0 0 27 13 32.5 FKBP8 0 genome.wustl.edu 37 19 18652683 18652683 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 18652683 18652683 G A SNP FKBP8 ENST00000453489 human ensembl 74_37 -1 known missense c.185 p.A62V 0.141 NULL pfam_PPIase_FKBP_dom,pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_PPIase_FKBP_dom - no_errors FKBP8 HGNC ENSG00000105701 21 0 0 19 14 42.4242 CERS1 0 genome.wustl.edu 37 19 18990153 18990153 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 18990153 18990153 G A SNP CERS1 ENST00000427170 human ensembl 74_37 -1 known missense c.797 p.A266V 1.000 pfam_TLC-dom,smart_TLC-dom,pirsf_Longevity_assurance_LAG1_LAC1,pfscan_TLC-dom pfam_TLC-dom,smart_TLC-dom,pirsf_Longevity_assurance_LAG1_LAC1,pfscan_TLC-dom - no_errors CERS1 HGNC ENSG00000223802 11 0 0 9 6 40 HOMER3 0 genome.wustl.edu 37 19 19042329 19042329 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 19042329 19042329 T C SNP HOMER3 ENST00000392351 human ensembl 74_37 -1 known missense c.796 p.T266A 1.000 NULL pfam_WH1/EVH1,smart_WH1/EVH1,pfscan_WH1/EVH1 - no_errors HOMER3 HGNC ENSG00000051128 106 0 0 65 35 35 CILP2 0 genome.wustl.edu 37 19 19655251 19655251 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 19655251 19655251 G A SNP CILP2 ENST00000291495 human ensembl 74_37 +1 known missense c.1897 p.E633K 0.996 NULL pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,superfamily_Thrombospondin_1_rpt,superfamily_CarboxyPept-like_regulatory,superfamily_Carb-bd-like_fold,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors CILP2 HGNC ENSG00000160161 153 0 0 90 29 24.3697 PBX4 0 genome.wustl.edu 37 19 19680322 19680322 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 19680322 19680322 T C SNP PBX4 ENST00000251203 human ensembl 74_37 -1 known missense c.704 p.N235S 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_PBX,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors PBX4 HGNC ENSG00000105717 278 0 0 134 93 40.9692 LPAR2 0 genome.wustl.edu 37 19 19737709 19737709 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 19737709 19737709 G A SNP LPAR2 ENST00000407877 human ensembl 74_37 -1 known missense c.385 p.R129W 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_LPA_rcpt_EDG4,prints_GPCR_Rhodpsn,prints_LPA_rcpt,prints_LPA_rcpt_EDG2,prints_Melcrt_ACTH_rcpt,prints_S1P_rcpt - no_errors LPAR2 HGNC ENSG00000064547 13 0 0 9 11 55 ATP13A1 0 genome.wustl.edu 37 19 19766239 19766239 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 19766239 19766239 G A SNP ATP13A1 ENST00000357324 human ensembl 74_37 -1 known missense c.1420 p.R474C 1.000 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP13A1 HGNC ENSG00000105726 63 0 0 47 4 7.84314 BTBD2 0 genome.wustl.edu 37 19 1993130 1993130 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 1993130 1993130 C T SNP BTBD2 ENST00000255608 human ensembl 74_37 -1 known missense c.573 p.M191I 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_PHR,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors BTBD2 HGNC ENSG00000133243 37 0 0 19 10 34.4828 MKNK2 0 genome.wustl.edu 37 19 2041092 2041092 + Missense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 2041092 2041092 C A SNP MKNK2 ENST00000250896 human ensembl 74_37 -1 known missense c.1057 p.A353S 1.000 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MKNK2 HGNC ENSG00000099875 93 0 0 42 39 48.1481 ZNF708 0 genome.wustl.edu 37 19 21476766 21476766 + Silent SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 21476766 21476766 T C SNP ZNF708 ENST00000356929 human ensembl 74_37 -1 known silent c.1002 p.K334 0.997 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 ZNF708 HGNC ENSG00000182141 43 0 0 63 4 5.97015 ZNF493 0 genome.wustl.edu 37 19 21606876 21606876 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 21606876 21606876 G A SNP ZNF493 ENST00000355504 human ensembl 74_37 +1 known missense c.1031 p.R344Q 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF493 HGNC ENSG00000196268 39 0 0 25 15 37.5 ZNF100 0 genome.wustl.edu 37 19 21927839 21927839 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 21927839 21927839 C T SNP ZNF100 ENST00000358296 human ensembl 74_37 -1 known missense c.127 p.E43K 0.942 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF100 HGNC ENSG00000197020 119 0 0 62 49 44.1441 ZNF257 0 genome.wustl.edu 37 19 22271242 22271242 + Silent SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 22271242 22271242 A G SNP ZNF257 ENST00000594947 human ensembl 74_37 +1 known silent c.690 p.K230 0.047 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 ZNF257 HGNC ENSG00000197134 53 0 0 35 12 25.5319 OAZ1 0 genome.wustl.edu 37 19 2272973 2272973 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 2272973 2272973 G A SNP OAZ1 ENST00000322297 human ensembl 74_37 +1 known missense c.550 p.A184T 0.487 pfam_ODC_AZ,superfamily_Acyl_CoA_acyltransferase pfam_ODC_AZ,superfamily_Acyl_CoA_acyltransferase - no_errors OAZ1 HGNC ENSG00000104904 19 0 0 8 8 50 SPPL2B 0 genome.wustl.edu 37 19 2353174 2353174 + RNA SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 2353174 2353174 G A SNP SPPL2B ENST00000452401 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors SPPL2B HGNC ENSG00000005206 32 0 0 18 15 45.4545 DIRAS1 0 genome.wustl.edu 37 19 2717476 2717476 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 2717476 2717476 C T SNP DIRAS1 ENST00000323469 human ensembl 74_37 -1 known missense c.329 p.S110N 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 DIRAS1 HGNC ENSG00000176490 64 0 0 53 7 11.6667 ZNF556 0 genome.wustl.edu 37 19 2877612 2877612 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 2877612 2877612 C T SNP ZNF556 ENST00000307635 human ensembl 74_37 +1 known missense c.656 p.T219I 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF556 HGNC ENSG00000172000 91 0 0 51 17 25 ZNF77 0 genome.wustl.edu 37 19 2933649 2933649 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 2933649 2933649 G A SNP ZNF77 ENST00000314531 human ensembl 74_37 -1 known silent c.1476 p.Y492 0.039 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 ZNF77 HGNC ENSG00000175691 86 0 0 59 6 9.23077 TLE6 0 genome.wustl.edu 37 19 2993498 2993498 + Nonsense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 2993498 2993498 G A SNP TLE6 ENST00000246112 human ensembl 74_37 +1 known nonsense c.1455 p.W485* 1.000 superfamily_WD40_repeat_dom,prints_Groucho_enhance pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance - no_errors TLE6 HGNC ENSG00000104953 72 0 0 28 28 50 ZNF536 0 genome.wustl.edu 37 19 30935266 30935266 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 30935266 30935266 A G SNP ZNF536 ENST00000355537 human ensembl 74_37 +1 known missense c.797 p.D266G 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF536 HGNC ENSG00000198597 40 0 0 38 7 15.5556 ZNF536 0 genome.wustl.edu 37 19 30936402 30936402 + Nonsense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 30936402 30936402 C T SNP ZNF536 ENST00000355537 human ensembl 74_37 +1 known nonsense c.1933 p.Q645* 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF536 HGNC ENSG00000198597 161 0 0 171 15 8.06452 ZNF536 0 genome.wustl.edu 37 19 31039824 31039824 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 31039824 31039824 G A SNP ZNF536 ENST00000355537 human ensembl 74_37 +1 known missense c.3298 p.V1100M 0.953 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF536 HGNC ENSG00000198597 86 0 0 73 36 33.0275 WDR88 0 genome.wustl.edu 37 19 33623225 33623225 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 33623225 33623225 G A SNP WDR88 ENST00000355868 human ensembl 74_37 +1 known silent c.150 p.P50 0.000 NULL pfam_WD40_repeat,pfam_PQQ_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,smart_PQQ_beta_propeller_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR88 HGNC ENSG00000166359 121 0 0 130 42 24.4186 PEPD 0 genome.wustl.edu 37 19 33878152 33878152 + RNA SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 33878152 33878152 G A SNP PEPD ENST00000589598 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors PEPD HGNC ENSG00000124299 50 0 0 44 19 30.1587 KCTD15 0 genome.wustl.edu 37 19 34292175 34292175 + Missense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 34292175 34292175 C A SNP KCTD15 ENST00000430256 human ensembl 74_37 +1 known missense c.170 p.P57H 1.000 superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCTD15 HGNC ENSG00000153885 74 0 0 88 7 7.36842 SCN1B 0 genome.wustl.edu 37 19 35523454 35523454 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 35523454 35523454 C T SNP SCN1B ENST00000262631 human ensembl 74_37 +1 known silent c.63 p.C21 0.844 NULL pfam_Immunoglobulin,pfam_Ig_V-set - no_errors SCN1B HGNC ENSG00000105711 115 0 0 71 86 54.7771 LGI4 0 genome.wustl.edu 37 19 35616218 35616218 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 35616218 35616218 G A SNP LGI4 ENST00000310123 human ensembl 74_37 -1 known missense c.1493 p.A498V 0.404 NULL pfam_EPTP,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_EAR - no_errors LGI4 HGNC ENSG00000153902 53 0 0 63 13 17.1053 FAM187B 0 genome.wustl.edu 37 19 35715961 35715961 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 35715961 35715961 C T SNP FAM187B ENST00000324675 human ensembl 74_37 -1 known missense c.877 p.V293M 0.001 NULL NULL - no_errors FAM187B HGNC ENSG00000177558 23 0 0 23 26 53.0612 LSR 0 genome.wustl.edu 37 19 35758063 35758063 + Missense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 35758063 35758063 C A SNP LSR ENST00000361790 human ensembl 74_37 +1 known missense c.1340 p.S447Y 0.050 NULL pfam_LISCH7,smart_Ig_sub,pfscan_Ig-like_dom - no_errors LSR HGNC ENSG00000105699 56 0 0 43 50 53.7634 ATP4A 0 genome.wustl.edu 37 19 36046156 36046156 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 36046156 36046156 G A SNP ATP4A ENST00000262623 human ensembl 74_37 -1 known silent c.2238 p.G746 1.000 superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATPase_P-typ_H/K-transp_N,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP4A HGNC ENSG00000105675 82 0 0 81 25 23.5849 HAUS5 0 genome.wustl.edu 37 19 36105982 36105982 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 36105982 36105982 C T SNP HAUS5 ENST00000203166 human ensembl 74_37 +1 known silent c.258 p.R86 0.095 NULL NULL - no_errors HAUS5 HGNC ENSG00000249115 18 0 0 12 6 33.3333 PRODH2 0 genome.wustl.edu 37 19 36293939 36293939 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 36293939 36293939 C T SNP PRODH2 ENST00000301175 human ensembl 74_37 -1 known missense c.1271 p.R424H 0.941 pfam_Proline_DH pfam_Proline_DH - no_errors PRODH2 HGNC ENSG00000250799 8 0 0 11 3 21.4286 LRFN3 0 genome.wustl.edu 37 19 36431147 36431147 + Missense_Mutation SNP T T A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 36431147 36431147 T A SNP LRFN3 ENST00000246529 human ensembl 74_37 +1 known missense c.820 p.S274T 1.000 smart_Cys-rich_flank_reg_C pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRFN3 HGNC ENSG00000126243 34 0 0 23 39 62.9032 LRFN3 0 genome.wustl.edu 37 19 36435683 36435683 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 36435683 36435683 C T SNP LRFN3 ENST00000246529 human ensembl 74_37 +1 known missense c.1649 p.S550L 0.997 NULL pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRFN3 HGNC ENSG00000126243 38 0 0 13 23 63.8889 WDR62 0 genome.wustl.edu 37 19 36594542 36594542 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 36594542 36594542 C T SNP WDR62 ENST00000401500 human ensembl 74_37 +1 known missense c.3812 p.A1271V 0.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR62 HGNC ENSG00000075702 96 0 0 119 16 11.8519 ZFP82 0 genome.wustl.edu 37 19 36883660 36883660 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 36883660 36883660 G A SNP ZFP82 ENST00000392161 human ensembl 74_37 -1 known missense c.1582 p.H528Y 1.000 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 ZFP82 HGNC ENSG00000181007 39 0 0 14 13 48.1481 TJP3 0 genome.wustl.edu 37 19 3740615 3740615 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 3740615 3740615 C T SNP TJP3 ENST00000262968 human ensembl 74_37 +1 known missense c.1796 p.A599V 0.000 superfamily_SH3_domain,prints_ZonOcculS3 pfam_PDZ,pfam_SH3_2,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like,prints_ZonOcculS3,prints_ZonOcculdens - no_errors TJP3 HGNC ENSG00000105289 23 0 0 15 9 37.5 ZNF585A 0 genome.wustl.edu 37 19 37643977 37643977 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 37643977 37643977 C T SNP ZNF585A ENST00000356958 human ensembl 74_37 -1 known missense c.824 p.C275Y 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF585A HGNC ENSG00000196967 245 0 0 93 95 50.5319 ZNF585B 0 genome.wustl.edu 37 19 37676233 37676233 + Missense_Mutation SNP G G C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 37676233 37676233 G C SNP ZNF585B ENST00000532828 human ensembl 74_37 -1 known missense c.2206 p.H736D 0.994 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 ZNF585B HGNC ENSG00000245680 144 0 0 102 36 26.087 RASGRP4 0 genome.wustl.edu 37 19 38901993 38901993 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 38901993 38901993 C T SNP RASGRP4 ENST00000587738 human ensembl 74_37 -1 known missense c.1709 p.R570H 1.000 pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_DAG/PE-bd pfam_RasGRF_CDC25,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_EF_hand_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_DAG/PE-bd - no_errors RASGRP4 HGNC ENSG00000171777 11 0 0 12 5 29.4118 RYR1 0 genome.wustl.edu 37 19 38980033 38980033 + Silent SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 38980033 38980033 T C SNP RYR1 ENST00000359596 human ensembl 74_37 +1 known silent c.5764 p.L1922 0.927 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 94 0 0 91 20 18.018 RYR1 0 genome.wustl.edu 37 19 39002998 39002998 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 39002998 39002998 C T SNP RYR1 ENST00000359596 human ensembl 74_37 +1 known missense c.9347 p.S3116L 0.996 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 87 0 0 99 32 24.4275 RYR1 0 genome.wustl.edu 37 19 39034443 39034443 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 39034443 39034443 G A SNP RYR1 ENST00000359596 human ensembl 74_37 +1 known silent c.11940 p.A3980 0.561 pfam_RIH_assoc-dom 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 44 0 0 61 4 6.15385 SARS2 0 genome.wustl.edu 37 19 39406305 39406305 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 39406305 39406305 A G SNP SARS2 ENST00000600042 human ensembl 74_37 -1 known missense c.1504 p.Y502H 1.000 NULL pirsf_Ser-tRNA-ligase_type_1,pfam_aa-tRNA-synt_IIb_cons-dom,superfamily_tRNA-bd_arm,prints_Ser-tRNA-ligase_type_1,pfscan_aa-tRNA-synth_II,tigrfam_Ser-tRNA-ligase_type_1 - no_errors SARS2 HGNC ENSG00000104835 103 0 0 91 13 12.5 NCCRP1 0 genome.wustl.edu 37 19 39691347 39691347 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 39691347 39691347 G A SNP NCCRP1 ENST00000339852 human ensembl 74_37 +1 known missense c.779 p.R260Q 0.978 pfam_F-box-assoc_dom,superfamily_Galactose-bd-like,pfscan_F-box-assoc_dom pfam_F-box-assoc_dom,superfamily_Galactose-bd-like,pfscan_F-box-assoc_dom - no_errors NCCRP1 HGNC ENSG00000188505 341 0 0 281 96 25.4642 LRFN1 0 genome.wustl.edu 37 19 39799138 39799138 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 39799138 39799138 G A SNP LRFN1 ENST00000248668 human ensembl 74_37 -1 known missense c.1451 p.A484V 0.984 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRFN1 HGNC ENSG00000128011 40 0 0 45 15 25 SAMD4B 0 genome.wustl.edu 37 19 39867347 39867347 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 39867347 39867347 C T SNP SAMD4B ENST00000314471 human ensembl 74_37 +1 known silent c.1020 p.N340 0.997 pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM - no_errors SAMD4B HGNC ENSG00000179134 51 0 0 52 12 18.75 FCGBP 0 genome.wustl.edu 37 19 40411750 40411750 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 40411750 40411750 A G SNP FCGBP ENST00000221347 human ensembl 74_37 -1 known missense c.3878 p.V1293A 1.000 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC ENSG00000090920 133 0 0 73 94 56.2874 FCGBP 0 genome.wustl.edu 37 19 40419887 40419887 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 40419887 40419887 G A SNP FCGBP ENST00000221347 human ensembl 74_37 -1 known missense c.3107 p.T1036M 0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC ENSG00000090920 81 0 0 66 30 31.25 SPTBN4 0 genome.wustl.edu 37 19 41040082 41040082 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 41040082 41040082 C T SNP SPTBN4 ENST00000352632 human ensembl 74_37 +1 known silent c.4191 p.S1397 1.000 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN4 HGNC ENSG00000160460 32 0 0 37 5 11.9048 MAP2K2 0 genome.wustl.edu 37 19 4117561 4117561 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 4117561 4117561 C T SNP MAP2K2 ENST00000262948 human ensembl 74_37 -1 known silent c.159 p.R53 0.004 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MAP2K2 HGNC ENSG00000126934 143 0 0 79 39 33.0508 C19orf54 0 genome.wustl.edu 37 19 41249854 41249854 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 41249854 41249854 G A SNP C19orf54 ENST00000378313 human ensembl 74_37 -1 known missense c.674 p.P225L 1.000 NULL NULL - no_errors C19orf54 HGNC ENSG00000188493 106 0 0 97 27 21.7742 AXL 0 genome.wustl.edu 37 19 41762422 41762422 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 41762422 41762422 A G SNP AXL ENST00000301178 human ensembl 74_37 +1 known missense c.2102 p.D701G 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 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,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,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors AXL HGNC ENSG00000167601 127 0 0 100 126 55.7522 HNRNPUL1 0 genome.wustl.edu 37 19 41779901 41779901 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 41779901 41779901 A G SNP HNRNPUL1 ENST00000392006 human ensembl 74_37 +1 known missense c.587 p.Q196R 1.000 superfamily_ConA-like_lec_gl_sf,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_SAP_dom,superfamily_ConA-like_lec_gl_sf,superfamily_P-loop_NTPase,smart_SAP_dom,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_SAP_dom - no_errors HNRNPUL1 HGNC ENSG00000105323 93 0 0 65 19 22.619 HNRNPUL1 0 genome.wustl.edu 37 19 41811617 41811617 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 41811617 41811617 T C SNP HNRNPUL1 ENST00000392006 human ensembl 74_37 +1 known missense c.2299 p.Y767H 0.993 NULL pfam_SPRY_rcpt,pfam_SAP_dom,superfamily_ConA-like_lec_gl_sf,superfamily_P-loop_NTPase,smart_SAP_dom,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_SAP_dom - no_errors HNRNPUL1 HGNC ENSG00000105323 162 0 0 156 38 19.5876 CCDC97 0 genome.wustl.edu 37 19 41822545 41822545 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 41822545 41822545 C T SNP CCDC97 ENST00000269967 human ensembl 74_37 +1 known silent c.303 p.H101 0.566 NULL pfam_DUF2052_coiled-coil - no_errors CCDC97 HGNC ENSG00000142039 64 0 0 51 23 31.0811 ZNF574 0 genome.wustl.edu 37 19 42584906 42584906 + Silent SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 42584906 42584906 C A SNP ZNF574 ENST00000222339 human ensembl 74_37 +1 known silent c.2418 p.A806 0.046 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF574 HGNC ENSG00000105732 182 0 0 173 24 12.1827 CCDC94 0 genome.wustl.edu 37 19 4262085 4262085 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 4262085 4262085 C T SNP CCDC94 ENST00000262962 human ensembl 74_37 +1 known missense c.682 p.P228S 0.338 pfam_CWC16 pfam_CWC16 - no_errors CCDC94 HGNC ENSG00000105248 80 0 0 50 28 35.8974 GSK3A 0 genome.wustl.edu 37 19 42736814 42736814 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 42736814 42736814 C T SNP GSK3A ENST00000222330 human ensembl 74_37 -1 known silent c.1119 p.P373 0.343 pfam_Prot_kinase_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 GSK3A HGNC ENSG00000105723 52 0 0 51 29 36.25 CIC 0 genome.wustl.edu 37 19 42791286 42791286 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 42791286 42791286 G A SNP CIC ENST00000575354 human ensembl 74_37 +1 known missense c.346 p.V116M 0.769 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors CIC HGNC ENSG00000079432 75 0 0 62 8 11.4286 MEGF8 0 genome.wustl.edu 37 19 42862379 42862379 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 42862379 42862379 G A SNP MEGF8 ENST00000251268 human ensembl 74_37 +1 known missense c.5095 p.A1699T 1.000 superfamily_Gal_Oxase/kelch_b-propeller pfam_CUB_dom,pfam_EGF_laminin,pfam_Plexin_repeat,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_CUB_dom,smart_EG-like_dom,smart_Plexin-like_fold,smart_EGF-like_Ca-bd_dom,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin - no_errors MEGF8 HGNC ENSG00000105429 19 0 0 22 8 26.6667 CEACAM1 0 genome.wustl.edu 37 19 43023297 43023297 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 43023297 43023297 G A SNP CEACAM1 ENST00000161559 human ensembl 74_37 -1 known missense c.1049 p.T350I 0.001 pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors CEACAM1 HGNC ENSG00000079385 139 0 0 125 9 6.71642 IRGQ 0 genome.wustl.edu 37 19 44096570 44096570 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 44096570 44096570 C T SNP IRGQ ENST00000422989 human ensembl 74_37 -1 known missense c.1480 p.A494T 0.329 NULL superfamily_P-loop_NTPase - no_errors IRGQ HGNC ENSG00000167378 13 0 0 12 3 20 CADM4 0 genome.wustl.edu 37 19 44131420 44131420 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 44131420 44131420 G A SNP CADM4 ENST00000222374 human ensembl 74_37 -1 known missense c.262 p.R88W 1.000 pfam_Ig_V-set,smart_Ig_sub pfam_Ig_I-set,pfam_Ig_V-set,pfam_CD80_C2-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Neurexin-like,pfscan_Ig-like_dom - no_errors CADM4 HGNC ENSG00000105767 72 0 0 80 36 31.0345 UBXN6 0 genome.wustl.edu 37 19 4446124 4446124 + Nonsense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 4446124 4446124 C T SNP UBXN6 ENST00000301281 human ensembl 74_37 -1 known nonsense c.1122 p.W374* 1.000 pfam_UBX,smart_UBX,pfscan_UBX pfam_PUB_domain,pfam_UBX,smart_PUG-dom,smart_UBX,pfscan_UBX - no_errors UBXN6 HGNC ENSG00000167671 47 0 0 44 5 10.2041 LOC101928063 0 genome.wustl.edu 37 19 44503252 44503252 + RNA SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 44503252 44503252 G A SNP LOC101928063 ENST00000586860 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-15A1.7 Clone_based_vega_gene ENSG00000266921 15 0 0 9 3 25 ZNF230 0 genome.wustl.edu 37 19 44515452 44515452 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 44515452 44515452 A G SNP ZNF230 ENST00000429154 human ensembl 74_37 +1 known missense c.1261 p.K421E 0.001 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 ZNF230 HGNC ENSG00000159882 140 0 0 124 23 15.6463 LOC100379224 0 genome.wustl.edu 37 19 44610440 44610440 + RNA SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 44610440 44610440 G A SNP LOC100379224 ENST00000592946 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors AC084219.4 Clone_based_vega_gene ENSG00000186019 23 0 0 8 6 42.8571 ZNF225 0 genome.wustl.edu 37 19 44636503 44636503 + Missense_Mutation SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 44636503 44636503 G T SNP ZNF225 ENST00000262894 human ensembl 74_37 +1 known missense c.1736 p.R579L 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 ZNF225 HGNC ENSG00000256294 88 0 0 43 62 59.0476 ZNF227 0 genome.wustl.edu 37 19 44740078 44740078 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 44740078 44740078 A G SNP ZNF227 ENST00000313040 human ensembl 74_37 +1 known missense c.1495 p.K499E 0.795 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 ZNF227 HGNC ENSG00000131115 84 0 0 73 27 27 HDGFRP2 0 genome.wustl.edu 37 19 4475282 4475282 + Missense_Mutation SNP T T A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 4475282 4475282 T A SNP HDGFRP2 ENST00000301284 human ensembl 74_37 +1 known missense c.83 p.I28N 0.405 pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom pfam_LEDGF,pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom - no_errors HDGFRP2 Uniprot_gn ENSG00000167674 57 0 0 35 16 31.3725 ZNF235 0 genome.wustl.edu 37 19 44791768 44791768 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 44791768 44791768 C T SNP ZNF235 ENST00000291182 human ensembl 74_37 -1 known missense c.1820 p.R607Q 0.076 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 ZNF235 HGNC ENSG00000159917 219 1 0.454545 145 52 26.3959 ZNF235 0 genome.wustl.edu 37 19 44792901 44792901 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 44792901 44792901 C T SNP ZNF235 ENST00000291182 human ensembl 74_37 -1 known silent c.687 p.V229 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF235 HGNC ENSG00000159917 92 0 0 57 18 24 ZNF235 0 genome.wustl.edu 37 19 44803829 44803829 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 44803829 44803829 C T SNP ZNF235 ENST00000291182 human ensembl 74_37 -1 known silent c.72 p.L24 1.000 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF235 HGNC ENSG00000159917 264 0 0 216 74 25.5172 CEACAM20 0 genome.wustl.edu 37 19 45026685 45026685 + RNA SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 45026685 45026685 A G SNP CEACAM20 ENST00000316962 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CEACAM20 HGNC ENSG00000176395 30 0 0 16 12 42.8571 PLIN4 0 genome.wustl.edu 37 19 4508874 4508874 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 4508874 4508874 C T SNP PLIN4 ENST00000301286 human ensembl 74_37 -1 novel missense c.3566 p.R1189H 1.000 pfam_Perilipin pfam_Perilipin,superfamily_Ankyrin_rpt-contain_dom - no_errors PLIN4 HGNC ENSG00000167676 23 0 0 7 16 69.5652 CBLC 0 genome.wustl.edu 37 19 45281378 45281378 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 45281378 45281378 G A SNP CBLC ENST00000270279 human ensembl 74_37 +1 known missense c.190 p.A64T 0.000 pfam_Adaptor_Cbl_N_hlx,superfamily_Adaptor_Cbl_N_hlx pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Adaptor_Cbl_N_hlx,pfam_Znf_C3HC4_RING-type,superfamily_Adaptor_Cbl_N_hlx,smart_Znf_RING,pfscan_Znf_RING - no_errors CBLC HGNC ENSG00000142273 32 0 0 32 24 42.8571 BCAM 0 genome.wustl.edu 37 19 45316592 45316592 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 45316592 45316592 A G SNP BCAM ENST00000270233 human ensembl 74_37 +1 known missense c.590 p.E197G 0.201 pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors BCAM HGNC ENSG00000187244 56 0 0 53 82 60.7407 BCAM 0 genome.wustl.edu 37 19 45318008 45318008 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 45318008 45318008 C T SNP BCAM ENST00000270233 human ensembl 74_37 +1 known missense c.1069 p.R357C 0.236 smart_Ig_sub pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors BCAM HGNC ENSG00000187244 68 0 0 66 32 32.6531 GEMIN7 0 genome.wustl.edu 37 19 45593471 45593471 + Silent SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 45593471 45593471 C A SNP GEMIN7 ENST00000270257 human ensembl 74_37 +1 known silent c.99 p.P33 0.000 NULL pfam_SMN_gemin7 - no_errors GEMIN7 HGNC ENSG00000142252 128 0 0 102 36 26.087 GEMIN7 0 genome.wustl.edu 37 19 45593631 45593631 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 45593631 45593631 C T SNP GEMIN7 ENST00000270257 human ensembl 74_37 +1 known missense c.259 p.R87C 0.856 pfam_SMN_gemin7 pfam_SMN_gemin7 - no_errors GEMIN7 HGNC ENSG00000142252 71 0 0 29 48 62.3377 TRAPPC6A 0 genome.wustl.edu 37 19 45667454 45667454 + Missense_Mutation SNP A A T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 45667454 45667454 A T SNP TRAPPC6A ENST00000006275 human ensembl 74_37 -1 known missense c.364 p.S122T 0.000 pfam_TRAPP_component,superfamily_NO_sig/Golgi_transp_ligand-bd pfam_TRAPP_component,superfamily_NO_sig/Golgi_transp_ligand-bd - no_errors TRAPPC6A HGNC ENSG00000007255 25 0 0 26 11 29.7297 PPP1R13L 0 genome.wustl.edu 37 19 45885943 45885943 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 45885943 45885943 A G SNP PPP1R13L ENST00000360957 human ensembl 74_37 -1 known missense c.2290 p.Y764H 1.000 superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SH3_domain,prints_SH3_domain - no_errors PPP1R13L HGNC ENSG00000104881 65 0 0 67 20 22.9885 PPP1R13L 0 genome.wustl.edu 37 19 45889310 45889310 + Missense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 45889310 45889310 C A SNP PPP1R13L ENST00000360957 human ensembl 74_37 -1 known missense c.1944 p.K648N 0.995 superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SH3_domain,prints_SH3_domain - no_errors PPP1R13L HGNC ENSG00000104881 8 0 0 17 6 26.087 PPP1R13L 0 genome.wustl.edu 37 19 45899882 45899882 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 45899882 45899882 G A SNP PPP1R13L ENST00000360957 human ensembl 74_37 -1 known silent c.633 p.Y211 0.969 NULL pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SH3_domain,prints_SH3_domain - no_errors PPP1R13L HGNC ENSG00000104881 16 0 0 16 19 54.2857 EML2 0 genome.wustl.edu 37 19 46116926 46116926 + Missense_Mutation SNP A A T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 46116926 46116926 A T SNP EML2 ENST00000587152 human ensembl 74_37 -1 known missense c.2300 p.I767N 1.000 superfamily_Quinoprot_gluc/sorb_DH,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_HELP,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_Quinoprot_gluc/sorb_DH,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML2 HGNC ENSG00000125746 79 0 0 92 10 9.80392 GIPR 0 genome.wustl.edu 37 19 46173991 46173991 + Silent SNP A A C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 46173991 46173991 A C SNP GIPR ENST00000590918 human ensembl 74_37 +1 known silent c.171 p.S57 0.990 smart_GPCR_2_extracellular_dom,prints_GPCR_2_GIP_rcpt,pfscan_GPCR_2_extracellular_dom pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,prints_GPCR_2_GIP_rcpt,prints_GPCR_2_secretin-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like - no_errors GIPR HGNC ENSG00000010310 9 0 0 21 4 16 SNRPD2 0 genome.wustl.edu 37 19 46190938 46190938 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 46190938 46190938 A G SNP SNRPD2 ENST00000342669 human ensembl 74_37 -1 known missense c.230 p.V77A 1.000 pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc - no_errors SNRPD2 HGNC ENSG00000125743 101 0 0 41 54 56.8421 QPCTL 0 genome.wustl.edu 37 19 46198751 46198751 + Silent SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 46198751 46198751 C A SNP QPCTL ENST00000012049 human ensembl 74_37 +1 known silent c.408 p.P136 0.997 NULL pfam_Peptidase_M28 - no_errors QPCTL HGNC ENSG00000011478 163 0 0 169 12 6.62983 FBXO46 0 genome.wustl.edu 37 19 46215024 46215024 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 46215024 46215024 C T SNP FBXO46 ENST00000317683 human ensembl 74_37 -1 known missense c.1730 p.R577H 1.000 superfamily_F-box_dom superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom - no_errors FBXO46 HGNC ENSG00000177051 15 0 0 19 4 17.3913 FBXO46 0 genome.wustl.edu 37 19 46215601 46215601 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 46215601 46215601 T C SNP FBXO46 ENST00000317683 human ensembl 74_37 -1 known missense c.1153 p.T385A 0.984 NULL superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom - no_errors FBXO46 HGNC ENSG00000177051 83 0 0 156 11 6.58683 FBXO46 0 genome.wustl.edu 37 19 46215953 46215953 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 46215953 46215953 G A SNP FBXO46 ENST00000317683 human ensembl 74_37 -1 known silent c.801 p.N267 0.241 NULL superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom - no_errors FBXO46 HGNC ENSG00000177051 55 0 0 49 17 25.7576 SYMPK 0 genome.wustl.edu 37 19 46328490 46328490 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 46328490 46328490 G A SNP SYMPK ENST00000245934 human ensembl 74_37 -1 known missense c.2429 p.A810V 1.000 superfamily_ARM-type_fold pfam_DUF3453,pfam_Symplekin_C,superfamily_ARM-type_fold - no_errors SYMPK HGNC ENSG00000125755 87 0 0 59 76 56.2963 CCDC61 0 genome.wustl.edu 37 19 46521596 46521596 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 46521596 46521596 G A SNP CCDC61 ENST00000263284 human ensembl 74_37 +1 known missense c.1547 p.R516H 1.000 NULL NULL - no_errors CCDC61 HGNC ENSG00000104983 12 0 0 6 15 71.4286 STRN4 0 genome.wustl.edu 37 19 47224014 47224014 + Missense_Mutation SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 47224014 47224014 G T SNP STRN4 ENST00000391910 human ensembl 74_37 -1 known missense c.2128 p.L710M 0.997 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep pfam_WD40_repeat,pfam_Striatin_N,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors STRN4 HGNC ENSG00000090372 51 0 0 25 20 44.4444 C5AR2 0 genome.wustl.edu 37 19 47844795 47844795 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 47844795 47844795 G A SNP C5AR2 ENST00000257267 human ensembl 74_37 +1 known missense c.739 p.A247T 0.041 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Anaphtx_C5AR1/C5AR2 - no_errors C5AR2 HGNC ENSG00000134830 99 0 0 53 66 55.4622 GLTSCR1 0 genome.wustl.edu 37 19 48197675 48197675 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 48197675 48197675 C T SNP GLTSCR1 ENST00000396720 human ensembl 74_37 +1 known missense c.2587 p.R863C 0.003 NULL NULL - no_errors GLTSCR1 HGNC ENSG00000063169 9 0 0 17 10 37.037 GLTSCR1 0 genome.wustl.edu 37 19 48197801 48197801 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 48197801 48197801 G A SNP GLTSCR1 ENST00000396720 human ensembl 74_37 +1 known missense c.2713 p.D905N 0.348 NULL NULL - no_errors GLTSCR1 HGNC ENSG00000063169 40 0 0 53 16 23.1884 KCNJ14 0 genome.wustl.edu 37 19 48967755 48967755 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 48967755 48967755 C T SNP KCNJ14 ENST00000342291 human ensembl 74_37 +1 known silent c.1032 p.V344 0.413 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir - no_errors KCNJ14 HGNC ENSG00000182324 47 0 0 33 16 32.6531 CYTH2 0 genome.wustl.edu 37 19 48981786 48981786 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 48981786 48981786 A G SNP CYTH2 ENST00000427476 human ensembl 74_37 +1 known missense c.1052 p.H351R 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom - no_errors CYTH2 HGNC ENSG00000105443 81 0 0 108 7 6.08696 SPACA4 0 genome.wustl.edu 37 19 49110328 49110328 + Silent SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 49110328 49110328 C A SNP SPACA4 ENST00000321762 human ensembl 74_37 +1 known silent c.93 p.S31 0.022 pfam_LY6_UPAR pfam_LY6_UPAR - no_errors SPACA4 HGNC ENSG00000177202 132 0 0 238 17 6.66667 HSD17B14 0 genome.wustl.edu 37 19 49339655 49339655 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 49339655 49339655 G A SNP HSD17B14 ENST00000263278 human ensembl 74_37 -1 known missense c.14 p.T5M 0.000 NULL pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH - no_errors HSD17B14 HGNC ENSG00000087076 92 0 0 44 81 64.8 TULP2 0 genome.wustl.edu 37 19 49400623 49400623 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 49400623 49400623 C T SNP TULP2 ENST00000221399 human ensembl 74_37 -1 known silent c.63 p.R21 0.989 prints_Tubby_N pfam_Tubby_C,superfamily_Tubby_C-like,prints_Tubby_C,prints_Tubby_N - no_errors TULP2 HGNC ENSG00000104804 34 0 0 32 7 17.9487 NUCB1 0 genome.wustl.edu 37 19 49425747 49425747 + RNA SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 49425747 49425747 T C SNP NUCB1 ENST00000485798 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors NUCB1 HGNC ENSG00000104805 25 0 0 23 9 28.125 BAX 0 genome.wustl.edu 37 19 49464183 49464183 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 49464183 49464183 C T SNP BAX ENST00000293288 human ensembl 74_37 +1 known silent c.486 p.L162 0.003 NULL pfam_Blc2_fam,pfscan_Bcl2-like,prints_Blc2_fam - no_errors BAX HGNC ENSG00000087088 57 0 0 64 24 27.2727 CGB7 0 genome.wustl.edu 37 19 49558136 49558136 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 49558136 49558136 C T SNP CGB7 ENST00000377280 human ensembl 74_37 -1 known missense c.145 p.V49I 0.994 pfam_Cys_knot,smart_Gonadotropin_bsu pfam_Cys_knot,smart_Gonadotropin_bsu - no_errors CGB7 HGNC ENSG00000196337 50 0 0 74 19 20.4301 LIN7B 0 genome.wustl.edu 37 19 49619556 49619556 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 49619556 49619556 G A SNP LIN7B ENST00000221459 human ensembl 74_37 +1 known missense c.265 p.A89T 1.000 superfamily_PDZ,pirsf_Lin-7_homologue pfam_PDZ,pfam_L27_C,superfamily_PDZ,smart_L27,smart_PDZ,pirsf_Lin-7_homologue,pfscan_L27,pfscan_PDZ - no_errors LIN7B HGNC ENSG00000104863 46 0 0 40 9 18.3673 PPFIA3 0 genome.wustl.edu 37 19 49636603 49636603 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 49636603 49636603 C T SNP PPFIA3 ENST00000334186 human ensembl 74_37 +1 known missense c.1136 p.A379V 1.000 NULL pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIA3 HGNC ENSG00000177380 42 0 0 54 31 36.4706 PPFIA3 0 genome.wustl.edu 37 19 49646100 49646100 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 49646100 49646100 C T SNP PPFIA3 ENST00000334186 human ensembl 74_37 +1 known missense c.2584 p.R862W 1.000 pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIA3 HGNC ENSG00000177380 102 0 0 133 53 28.4946 TRPM4 0 genome.wustl.edu 37 19 49713993 49713993 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 49713993 49713993 C T SNP TRPM4 ENST00000252826 human ensembl 74_37 +1 known missense c.3355 p.R1119W 0.891 NULL pfam_Ion_trans_dom - no_errors TRPM4 HGNC ENSG00000130529 40 0 0 45 48 51.6129 SLC6A16 0 genome.wustl.edu 37 19 49812999 49812999 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 49812999 49812999 C T SNP SLC6A16 ENST00000335875 human ensembl 74_37 -1 known missense c.785 p.G262E 0.790 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport - no_errors SLC6A16 HGNC ENSG00000063127 62 0 0 43 41 48.8095 RCN3 0 genome.wustl.edu 37 19 50040398 50040398 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 50040398 50040398 G A SNP RCN3 ENST00000270645 human ensembl 74_37 +1 known missense c.554 p.R185Q 1.000 pfscan_EF_hand_dom smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors RCN3 HGNC ENSG00000142552 249 0 0 282 23 7.54098 PRR12 0 genome.wustl.edu 37 19 50119005 50119005 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 50119005 50119005 C T SNP PRR12 ENST00000418929 human ensembl 74_37 +1 novel missense c.5026 p.R1676C 0.826 NULL NULL - no_errors PRR12 HGNC ENSG00000126464 18 0 0 18 6 25 RRAS 0 genome.wustl.edu 37 19 50143242 50143242 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 50143242 50143242 G A SNP RRAS ENST00000246792 human ensembl 74_37 -1 known silent c.114 p.G38 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,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,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 RRAS HGNC ENSG00000126458 13 0 0 22 7 24.1379 IRF3 0 genome.wustl.edu 37 19 50165361 50165361 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 50165361 50165361 G A SNP IRF3 ENST00000309877 human ensembl 74_37 -1 known missense c.826 p.R276W 0.018 pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF3 HGNC ENSG00000126456 89 0 0 72 8 10 IRF3 0 genome.wustl.edu 37 19 50166694 50166694 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 50166694 50166694 G A SNP IRF3 ENST00000309877 human ensembl 74_37 -1 known silent c.243 p.R81 0.015 pfam_Interferon_reg_fact_DNA-bd_dom,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF3 HGNC ENSG00000126456 70 0 0 39 54 58.0645 AP2A1 0 genome.wustl.edu 37 19 50304308 50304308 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 50304308 50304308 C T SNP AP2A1 ENST00000354293 human ensembl 74_37 +1 known missense c.1546 p.R516C 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP2_complex_asu pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a-adaptin_app_sub_C,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP2_complex_asu - no_errors AP2A1 HGNC ENSG00000196961 21 0 0 16 3 15.7895 FUZ 0 genome.wustl.edu 37 19 50314914 50314914 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 50314914 50314914 C T SNP FUZ ENST00000313777 human ensembl 74_37 -1 known missense c.361 p.V121M 0.997 NULL NULL - no_errors FUZ HGNC ENSG00000010361 454 1 0.21978 404 156 27.8571 IL4I1 0 genome.wustl.edu 37 19 50393711 50393711 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 50393711 50393711 G A SNP IL4I1 ENST00000341114 human ensembl 74_37 -1 known missense c.986 p.A329V 0.001 pfam_Amino_oxidase pfam_Amino_oxidase,pfam_FAD-dep_OxRdtase,pfam_CHP00275_HI0933-like,pfam_FAD_bind_dom,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_AlaDH/PNT_NAD(H)-bd,pfam_mOase_FAD-bd,prints_Flavin_amine_oxidase - no_errors IL4I1 HGNC ENSG00000104951 64 0 0 67 16 19.2771 IL4I1 0 genome.wustl.edu 37 19 50393714 50393714 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 50393714 50393714 G A SNP IL4I1 ENST00000341114 human ensembl 74_37 -1 known missense c.983 p.P328L 0.000 pfam_Amino_oxidase pfam_Amino_oxidase,pfam_FAD-dep_OxRdtase,pfam_CHP00275_HI0933-like,pfam_FAD_bind_dom,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_AlaDH/PNT_NAD(H)-bd,pfam_mOase_FAD-bd,prints_Flavin_amine_oxidase - no_errors IL4I1 HGNC ENSG00000104951 65 0 0 59 22 27.1605 NUP62 0 genome.wustl.edu 37 19 50412080 50412080 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 50412080 50412080 T C SNP NUP62 ENST00000352066 human ensembl 74_37 -1 known missense c.985 p.T329A 1.000 pfam_Nucleoporin_NSP1_C pfam_Nucleoporin_NSP1_C - no_errors NUP62 HGNC ENSG00000213024 132 0 0 158 11 6.50888 MYH14 0 genome.wustl.edu 37 19 50812298 50812298 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 50812298 50812298 C T SNP MYH14 ENST00000262269 human ensembl 74_37 +1 known missense c.5824 p.R1942W 1.000 pfam_Myosin_tail pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH14 HGNC ENSG00000105357 46 0 0 31 53 63.0952 KCNC3 0 genome.wustl.edu 37 19 50831691 50831691 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 50831691 50831691 C T SNP KCNC3 ENST00000477616 human ensembl 74_37 -1 known missense c.649 p.A217T 0.008 prints_K_chnl_volt-dep_Kv3.3 pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,pfam_K_chnl_volt-dep_Kv3_ID,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3.3,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv - no_errors KCNC3 HGNC ENSG00000131398 14 0 0 7 12 63.1579 POLD1 0 genome.wustl.edu 37 19 50905095 50905095 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 50905095 50905095 G A SNP POLD1 ENST00000440232 human ensembl 74_37 +1 known missense c.377 p.R126H 0.960 superfamily_RNaseH-like_dom pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B,tigrfam_DNA-dir_DNA_pol_B_pol2 - no_errors POLD1 HGNC ENSG00000062822 103 0 0 98 30 23.4375 LRRC4B 0 genome.wustl.edu 37 19 51021093 51021093 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 51021093 51021093 G A SNP LRRC4B ENST00000389201 human ensembl 74_37 -1 known missense c.1877 p.A626V 1.000 NULL pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRRC4B HGNC ENSG00000131409 40 0 0 60 11 15.493 SHANK1 0 genome.wustl.edu 37 19 51200866 51200866 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 51200866 51200866 G A SNP SHANK1 ENST00000391814 human ensembl 74_37 -1 known silent c.1917 p.Y639 0.995 NULL pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SH3_2,pfam_SAM_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SH3_domain,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain - no_errors SHANK1 HGNC ENSG00000161681 154 0 0 158 32 16.8421 GPR32 0 genome.wustl.edu 37 19 51274805 51274805 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 51274805 51274805 C T SNP GPR32 ENST00000270590 human ensembl 74_37 +1 known silent c.948 p.Y316 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Formyl_pep_rcpt - no_errors GPR32 HGNC ENSG00000142511 109 0 0 103 25 19.5312 KLK5 0 genome.wustl.edu 37 19 51452165 51452165 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 51452165 51452165 G A SNP KLK5 ENST00000336334 human ensembl 74_37 -1 known missense c.542 p.A181V 0.041 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 KLK5 HGNC ENSG00000167754 84 0 0 80 16 16.6667 KLK12 0 genome.wustl.edu 37 19 51535263 51535263 + Missense_Mutation SNP A A T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 51535263 51535263 A T SNP KLK12 ENST00000250351 human ensembl 74_37 -1 known missense c.326 p.L109H 1.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors KLK12 HGNC ENSG00000186474 38 0 0 27 28 50.9091 SIGLEC7 0 genome.wustl.edu 37 19 51645702 51645702 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 51645702 51645702 T C SNP SIGLEC7 ENST00000317643 human ensembl 74_37 +1 known missense c.76 p.Y26H 0.000 NULL pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIGLEC7 HGNC ENSG00000168995 49 0 0 36 9 20 PTPRS 0 genome.wustl.edu 37 19 5215591 5215591 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 5215591 5215591 G A SNP PTPRS ENST00000372412 human ensembl 74_37 -1 known missense c.4115 p.P1372L 1.000 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom - no_errors PTPRS HGNC ENSG00000105426 79 0 0 34 24 41.3793 PTPRS 0 genome.wustl.edu 37 19 5231469 5231469 + Missense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 5231469 5231469 C A SNP PTPRS ENST00000372412 human ensembl 74_37 -1 known missense c.2010 p.K670N 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom - no_errors PTPRS HGNC ENSG00000105426 54 0 0 50 11 18.0328 ZNF649 0 genome.wustl.edu 37 19 52394603 52394603 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 52394603 52394603 G A SNP ZNF649 ENST00000354957 human ensembl 74_37 -1 known silent c.786 p.Y262 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 ZNF649 HGNC ENSG00000198093 139 1 0.714286 88 32 26.6667 ZNF649 0 genome.wustl.edu 37 19 52399819 52399819 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 52399819 52399819 C T SNP ZNF649 ENST00000354957 human ensembl 74_37 -1 known silent c.144 p.G48 0.094 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF649 HGNC ENSG00000198093 61 0 0 73 5 6.41026 ZNF615 0 genome.wustl.edu 37 19 52497291 52497291 + Silent SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 52497291 52497291 A G SNP ZNF615 ENST00000594083 human ensembl 74_37 -1 known silent c.1071 p.C357 0.040 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 ZNF615 HGNC ENSG00000197619 123 0 0 91 38 29.4574 ZNF616 0 genome.wustl.edu 37 19 52618535 52618535 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 52618535 52618535 T C SNP ZNF616 ENST00000600228 human ensembl 74_37 -1 known missense c.1882 p.T628A 0.984 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 ZNF616 HGNC ENSG00000204611 94 0 0 42 38 47.5 ZNF610 0 genome.wustl.edu 37 19 52869661 52869661 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 52869661 52869661 T C SNP ZNF610 ENST00000321287 human ensembl 74_37 +1 known missense c.1030 p.Y344H 0.061 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 ZNF610 HGNC ENSG00000167554 112 0 0 61 23 27.381 ZNF578 0 genome.wustl.edu 37 19 53014345 53014345 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 53014345 53014345 C T SNP ZNF578 ENST00000421239 human ensembl 74_37 +1 known silent c.711 p.G237 0.468 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 ZNF578 HGNC ENSG00000258405 114 0 0 52 69 57.0248 ZNF137P 0 genome.wustl.edu 37 19 53098916 53098916 + RNA SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 53098916 53098916 T C SNP ZNF137P ENST00000597158 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors ZNF137P HGNC ENSG00000123870 89 0 0 82 18 18 ZNF611 0 genome.wustl.edu 37 19 53209776 53209776 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 53209776 53209776 T C SNP ZNF611 ENST00000319783 human ensembl 74_37 -1 known missense c.532 p.N178D 0.001 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF611 HGNC ENSG00000213020 240 0 0 162 59 26.6968 ZNF816 0 genome.wustl.edu 37 19 53454819 53454819 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 53454819 53454819 A G SNP ZNF816 ENST00000357666 human ensembl 74_37 -1 known missense c.209 p.M70T 0.001 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 ZNF816 HGNC ENSG00000180257 108 0 0 83 12 12.6316 ZNF347 0 genome.wustl.edu 37 19 53652530 53652530 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 53652530 53652530 C T SNP ZNF347 ENST00000452676 human ensembl 74_37 -1 known missense c.106 p.V36M 0.866 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF347 HGNC ENSG00000197937 135 0 0 86 103 54.4974 LOC101930624 0 genome.wustl.edu 37 19 53707375 53707375 + RNA SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 53707375 53707375 A G SNP LOC101930624 ENST00000597550 human ensembl 74_37 +1 known rna NULL NULL 0.805 - - - no_errors CTD-2245F17.3 Clone_based_vega_gene ENSG00000269051 146 0 0 180 65 26.5306 ZNF525 0 genome.wustl.edu 37 19 53884769 53884769 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 53884769 53884769 G A SNP ZNF525 ENST00000355326 human ensembl 74_37 +1 known missense c.91 p.A31T 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF525 HGNC ENSG00000203326 74 0 0 77 26 25.2427 ZNF761 0 genome.wustl.edu 37 19 53958607 53958607 + RNA SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 53958607 53958607 G A SNP ZNF761 ENST00000334095 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ZNF761 HGNC ENSG00000160336 217 1 0.458716 214 74 25.6944 ZNF813 0 genome.wustl.edu 37 19 53994405 53994405 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 53994405 53994405 G A SNP ZNF813 ENST00000396403 human ensembl 74_37 +1 known missense c.919 p.A307T 0.391 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 ZNF813 HGNC ENSG00000198346 107 0 0 111 7 5.9322 MIR1283-2 0 genome.wustl.edu 37 19 54261544 54261544 + RNA SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 54261544 54261544 C T SNP MIR1283-2 ENST00000408621 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors MIR1283-2 HGNC ENSG00000221548 112 0 0 64 85 57.047 MIR371B 0 genome.wustl.edu 37 19 54290899 54290899 + RNA SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 54290899 54290899 G A SNP MIR371B ENST00000595160 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MIR371B HGNC ENSG00000269877 66 0 0 45 25 35.7143 CACNG8 0 genome.wustl.edu 37 19 54466598 54466598 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 54466598 54466598 C T SNP CACNG8 ENST00000270458 human ensembl 74_37 +1 known missense c.202 p.R68C 1.000 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_gsu,prints_VDCC_g8su,prints_Claudin - no_errors CACNG8 HGNC ENSG00000142408 36 0 0 37 25 40.3226 ZNRF4 0 genome.wustl.edu 37 19 5455562 5455562 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 5455562 5455562 G A SNP ZNRF4 ENST00000222033 human ensembl 74_37 +1 known silent c.60 p.A20 0.000 NULL pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors ZNRF4 HGNC ENSG00000105428 60 0 0 29 25 46.2963 ZNRF4 0 genome.wustl.edu 37 19 5455855 5455855 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 5455855 5455855 C T SNP ZNRF4 ENST00000222033 human ensembl 74_37 +1 known missense c.353 p.A118V 0.757 NULL pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors ZNRF4 HGNC ENSG00000105428 126 0 0 91 38 29.4574 PRPF31 0 genome.wustl.edu 37 19 54634837 54634837 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 54634837 54634837 G A SNP PRPF31 ENST00000321030 human ensembl 74_37 +1 known missense c.1474 p.E492K 0.996 NULL pfam_Nop_dom,pfam_Prp31_C,pfam_NOSIC,smart_NOSIC - no_errors PRPF31 HGNC ENSG00000105618 47 0 0 37 15 28.8462 LILRB5 0 genome.wustl.edu 37 19 54758829 54758829 + Missense_Mutation SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 54758829 54758829 G T SNP LILRB5 ENST00000450632 human ensembl 74_37 -1 known missense c.997 p.L333M 0.162 smart_Ig_sub,smart_Ig_sub2 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LILRB5 HGNC ENSG00000105609 70 0 0 34 39 53.4247 LILRB1 0 genome.wustl.edu 37 19 55143558 55143558 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 55143558 55143558 G A SNP LILRB1 ENST00000324602 human ensembl 74_37 +1 known silent c.531 p.S177 0.000 smart_Ig_sub smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LILRB1 HGNC ENSG00000104972 177 0 0 198 39 16.4557 LILRB1 0 genome.wustl.edu 37 19 55146567 55146567 + Missense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 55146567 55146567 C A SNP LILRB1 ENST00000324602 human ensembl 74_37 +1 known missense c.1499 p.A500D 0.033 NULL smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LILRB1 HGNC ENSG00000104972 29 0 0 35 13 27.0833 KIR3DL1 0 genome.wustl.edu 37 19 55333226 55333226 + Nonsense_Mutation SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 55333226 55333226 G T SNP KIR3DL1 ENST00000402254 human ensembl 74_37 +1 known nonsense c.862 p.G288* 0.000 pfam_Immunoglobulin,smart_Ig_sub pfam_Immunoglobulin,smart_Ig_sub - no_errors KIR3DL1 HGNC ENSG00000167633 22 0 0 18 5 21.7391 FCAR 0 genome.wustl.edu 37 19 55401040 55401040 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 55401040 55401040 G A SNP FCAR ENST00000391723 human ensembl 74_37 +1 known missense c.565 p.A189T 0.000 NULL NULL - no_errors FCAR HGNC ENSG00000186431 541 0 0 597 175 22.6684 PPP6R1 0 genome.wustl.edu 37 19 55758268 55758268 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 55758268 55758268 G A SNP PPP6R1 ENST00000412770 human ensembl 74_37 -1 known silent c.204 p.S68 0.047 NULL pfam_SAPS,superfamily_ARM-type_fold - no_errors PPP6R1 HGNC ENSG00000105063 29 0 0 17 22 56.4103 ZNF628 0 genome.wustl.edu 37 19 55994827 55994827 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 55994827 55994827 G A SNP ZNF628 ENST00000598519 human ensembl 74_37 +1 known missense c.2267 p.R756H 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF628 HGNC ENSG00000197483 13 0 0 13 8 38.0952 ZNF865 0 genome.wustl.edu 37 19 56125978 56125978 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 56125978 56125978 G A SNP ZNF865 ENST00000568956 human ensembl 74_37 +1 novel missense c.994 p.A332T 0.010 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF865 HGNC ENSG00000261221 9 0 0 11 6 35.2941 CCDC106 0 genome.wustl.edu 37 19 56160817 56160817 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 56160817 56160817 C T SNP CCDC106 ENST00000308964 human ensembl 74_37 +1 known silent c.180 p.S60 0.954 NULL NULL - no_errors CCDC106 HGNC ENSG00000173581 67 0 0 33 34 50.7463 NLRP13 0 genome.wustl.edu 37 19 56424302 56424302 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 56424302 56424302 G A SNP NLRP13 ENST00000342929 human ensembl 74_37 -1 known missense c.881 p.A294V 0.000 superfamily_P-loop_NTPase,pfscan_NACHT_NTPase pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP13 HGNC ENSG00000173572 93 0 0 98 25 20.3252 ZNF787 0 genome.wustl.edu 37 19 56600379 56600379 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 56600379 56600379 G A SNP ZNF787 ENST00000270459 human ensembl 74_37 -1 known silent c.162 p.A54 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF787 HGNC ENSG00000142409 13 0 0 15 6 28.5714 ZNF667 0 genome.wustl.edu 37 19 56952902 56952902 + Nonsense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 56952902 56952902 G A SNP ZNF667 ENST00000342634 human ensembl 74_37 -1 known nonsense c.1846 p.R616* 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 ZNF667 HGNC ENSG00000198046 59 0 0 44 19 30.1587 ZFP28 0 genome.wustl.edu 37 19 57065374 57065374 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 57065374 57065374 T C SNP ZFP28 ENST00000301318 human ensembl 74_37 +1 known missense c.1220 p.V407A 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZFP28 HGNC ENSG00000196867 109 0 0 88 21 19.2661 ZFP28 0 genome.wustl.edu 37 19 57065512 57065512 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 57065512 57065512 G A SNP ZFP28 ENST00000301318 human ensembl 74_37 +1 known missense c.1358 p.C453Y 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZFP28 HGNC ENSG00000196867 87 0 0 110 7 5.98291 PEG3 0 genome.wustl.edu 37 19 57327157 57327157 + Missense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 57327157 57327157 C A SNP PEG3 ENST00000326441 human ensembl 74_37 -1 known missense c.2653 p.G885C 0.000 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors PEG3 HGNC ENSG00000198300 99 0 0 76 8 9.52381 PRR22 0 genome.wustl.edu 37 19 5783603 5783603 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 5783603 5783603 C T SNP PRR22 ENST00000419421 human ensembl 74_37 -1 known missense c.655 p.G219S 0.220 NULL NULL - no_errors PRR22 HGNC ENSG00000212123 12 0 0 13 7 35 DUS3L 0 genome.wustl.edu 37 19 5785436 5785436 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 5785436 5785436 G A SNP DUS3L ENST00000309061 human ensembl 74_37 -1 known missense c.1838 p.T613M 0.971 NULL pfam_tRNA_hU_synthase - no_errors DUS3L HGNC ENSG00000141994 21 0 0 12 7 36.8421 DUS3L 0 genome.wustl.edu 37 19 5787151 5787151 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 5787151 5787151 C T SNP DUS3L ENST00000309061 human ensembl 74_37 -1 known missense c.1310 p.R437H 1.000 pfam_tRNA_hU_synthase pfam_tRNA_hU_synthase - no_errors DUS3L HGNC ENSG00000141994 8 0 0 5 4 44.4444 TRAPPC2P1 0 genome.wustl.edu 37 19 57876433 57876433 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 57876433 57876433 G A SNP TRAPPC2P1 ENST00000543226 human ensembl 74_37 +1 putative missense c.232 p.A78T 1.000 pfam_Sedlin,pfam_Sybindin,superfamily_Longin-like_dom pfam_Sedlin,pfam_Sybindin,superfamily_Longin-like_dom - no_errors TRAPPC2P1 HGNC ENSG00000256060 29 0 0 31 4 11.4286 ZNF17 0 genome.wustl.edu 37 19 57932053 57932053 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 57932053 57932053 G A SNP ZNF17 ENST00000601808 human ensembl 74_37 +1 known missense c.1193 p.R398H 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 ZNF17 HGNC ENSG00000186272 153 0 0 133 8 5.67376 ZNF749 0 genome.wustl.edu 37 19 57956001 57956001 + Missense_Mutation SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 57956001 57956001 G T SNP ZNF749 ENST00000334181 human ensembl 74_37 +1 known missense c.1485 p.Q495H 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF749 HGNC ENSG00000186230 74 0 0 78 18 18.75 ZNF419 0 genome.wustl.edu 37 19 58005046 58005046 + Missense_Mutation SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 58005046 58005046 G T SNP ZNF419 ENST00000424930 human ensembl 74_37 +1 known missense c.1124 p.S375I 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 ZNF419 HGNC ENSG00000105136 133 0 0 63 71 52.9851 ZNF154 0 genome.wustl.edu 37 19 58213466 58213466 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 58213466 58213466 T C SNP ZNF154 ENST00000426889 human ensembl 74_37 -1 known missense c.851 p.Y284C 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 ZNF154 HGNC ENSG00000179909 99 0 0 53 70 56.9106 ZNF587 0 genome.wustl.edu 37 19 58371388 58371388 + Silent SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 58371388 58371388 T C SNP ZNF587 ENST00000339656 human ensembl 74_37 +1 known silent c.1608 p.I536 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 ZNF587 HGNC ENSG00000198466 159 0 0 113 39 25.6579 ZNF256 0 genome.wustl.edu 37 19 58453484 58453484 + Missense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 58453484 58453484 C A SNP ZNF256 ENST00000282308 human ensembl 74_37 -1 known missense c.692 p.G231V 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF256 HGNC ENSG00000152454 173 0 0 141 14 9.03226 FUT5 0 genome.wustl.edu 37 19 5867333 5867333 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 5867333 5867333 G A SNP FUT5 ENST00000252675 human ensembl 74_37 -1 known missense c.404 p.P135L 0.703 pfam_Glyco_trans_10 pfam_Glyco_trans_10 - no_errors FUT5 HGNC ENSG00000130383 76 0 0 60 40 40 ZNF497 0 genome.wustl.edu 37 19 58868129 58868129 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 58868129 58868129 C T SNP ZNF497 ENST00000311044 human ensembl 74_37 -1 known silent c.873 p.Q291 0.182 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF497 HGNC ENSG00000174586 11 0 0 13 8 38.0952 RANBP3 0 genome.wustl.edu 37 19 5917974 5917974 + Silent SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 5917974 5917974 T C SNP RANBP3 ENST00000340578 human ensembl 74_37 -1 known silent c.1491 p.T497 0.075 pfam_Ran_bind_dom,smart_Ran_bind_dom pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom - no_errors RANBP3 HGNC ENSG00000031823 104 0 0 59 40 40.404 HCN2 0 genome.wustl.edu 37 19 610372 610372 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 610372 610372 C T SNP HCN2 ENST00000251287 human ensembl 74_37 +1 known silent c.1551 p.S517 1.000 superfamily_cNMP-bd-like pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG - no_errors HCN2 HGNC ENSG00000099822 192 0 0 122 100 45.045 MLLT1 0 genome.wustl.edu 37 19 6216430 6216430 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 6216430 6216430 C T SNP MLLT1 ENST00000252674 human ensembl 74_37 -1 known silent c.1293 p.P431 0.425 NULL pfam_YEATS,pfscan_YEATS - no_errors MLLT1 HGNC ENSG00000130382 14 0 0 13 9 40.9091 MLLT1 0 genome.wustl.edu 37 19 6222213 6222213 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 6222213 6222213 G A SNP MLLT1 ENST00000252674 human ensembl 74_37 -1 known silent c.1029 p.A343 0.030 NULL pfam_YEATS,pfscan_YEATS - no_errors MLLT1 HGNC ENSG00000130382 27 0 0 20 8 28.5714 MLLT1 0 genome.wustl.edu 37 19 6270614 6270614 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 6270614 6270614 C T SNP MLLT1 ENST00000252674 human ensembl 74_37 -1 known missense c.169 p.D57N 1.000 pfam_YEATS,pfscan_YEATS pfam_YEATS,pfscan_YEATS - no_errors MLLT1 HGNC ENSG00000130382 54 0 0 33 18 35.2941 GTF2F1 0 genome.wustl.edu 37 19 6380696 6380696 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 6380696 6380696 G A SNP GTF2F1 ENST00000394456 human ensembl 74_37 -1 known missense c.1237 p.R413W 1.000 pfam_TFIIF-alpha pfam_TFIIF-alpha,superfamily_TFIIF_interaction - no_errors GTF2F1 HGNC ENSG00000125651 66 0 0 31 5 13.8889 DENND1C 0 genome.wustl.edu 37 19 6468317 6468317 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 6468317 6468317 G A SNP DENND1C ENST00000381480 human ensembl 74_37 -1 known silent c.1719 p.S573 0.000 NULL pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND1C HGNC ENSG00000205744 34 0 0 26 4 13.3333 TUBB4A 0 genome.wustl.edu 37 19 6495185 6495185 + Missense_Mutation SNP T T A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 6495185 6495185 T A SNP TUBB4A ENST00000264071 human ensembl 74_37 -1 known missense c.1325 p.E442V 1.000 NULL pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Alpha_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin - no_errors TUBB4A HGNC ENSG00000104833 107 0 0 60 45 42.8571 GPR108 0 genome.wustl.edu 37 19 6732167 6732167 + Splice_Site SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 6732167 6732167 C A SNP GPR108 ENST00000264080 human ensembl 74_37 -1 known splice_site c.1126-1 e13-1 1.000 - - - no_errors GPR108 HGNC ENSG00000125734 66 0 0 43 16 27.1186 HNRNPM 0 genome.wustl.edu 37 19 8553846 8553846 + RNA SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 8553846 8553846 T C SNP HNRNPM ENST00000602219 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors HNRNPM HGNC ENSG00000099783 21 0 0 10 2 16.6667 ADAMTS10 0 genome.wustl.edu 37 19 8661959 8661959 + Nonsense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 8661959 8661959 G A SNP ADAMTS10 ENST00000270328 human ensembl 74_37 -1 known nonsense c.952 p.Q318* 1.000 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS10 HGNC ENSG00000142303 102 0 0 75 43 36.4407 MED16 0 genome.wustl.edu 37 19 876999 876999 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 876999 876999 G A SNP MED16 ENST00000325464 human ensembl 74_37 -1 known missense c.1535 p.T512M 1.000 pfam_Mediator_Med16 pfam_Mediator_Med16,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors MED16 HGNC ENSG00000175221 49 0 0 24 15 38.4615 MUC16 0 genome.wustl.edu 37 19 8999048 8999048 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 8999048 8999048 C T SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.40796 p.R13599Q 0.000 smart_SEA_dom pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 26 0 0 29 21 42 MUC16 0 genome.wustl.edu 37 19 9049229 9049229 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 9049229 9049229 G A SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.32402 p.A10801V 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 194 0 0 70 40 36.3636 MUC16 0 genome.wustl.edu 37 19 9075091 9075091 + Missense_Mutation SNP T T A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 9075091 9075091 T A SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.12355 p.T4119S 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 81 0 0 57 5 8.06452 ZNF317 0 genome.wustl.edu 37 19 9272105 9272105 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 9272105 9272105 A G SNP ZNF317 ENST00000247956 human ensembl 74_37 +1 known missense c.1784 p.Q595R 0.877 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF317 HGNC ENSG00000130803 95 0 0 75 7 8.53659 PIN1 0 genome.wustl.edu 37 19 9958805 9958805 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 9958805 9958805 C T SNP PIN1 ENST00000247970 human ensembl 74_37 +1 known missense c.371 p.A124V 1.000 pfam_PPIase_PpiC,pfscan_PPIase_PpiC pfam_PPIase_PpiC,pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom,pfscan_PPIase_PpiC - no_errors PIN1 HGNC ENSG00000127445 47 0 0 27 13 32.5 EIF5B 0 genome.wustl.edu 37 2 100009432 100009432 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 100009432 100009432 C T SNP EIF5B ENST00000289371 human ensembl 74_37 +1 known silent c.2751 p.N917 1.000 pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase pfam_EF_GTP-bd_dom,pfam_TIF_IF2_dom3,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_B-barrel,superfamily_TIF_IF2_dom3,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom - no_errors EIF5B HGNC ENSG00000158417 56 0 0 26 6 18.75 AFF3 0 genome.wustl.edu 37 2 100210468 100210468 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 100210468 100210468 G A SNP AFF3 ENST00000356421 human ensembl 74_37 -1 known missense c.1730 p.A577V 0.769 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF3 HGNC ENSG00000144218 127 0 0 86 8 8.51064 CNOT11 0 genome.wustl.edu 37 2 101869670 101869670 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 101869670 101869670 G A SNP CNOT11 ENST00000289382 human ensembl 74_37 +1 known missense c.244 p.G82S 1.000 NULL pfam_DUF2363 - no_errors CNOT11 HGNC ENSG00000158435 19 0 0 15 12 44.4444 SLC9A4 0 genome.wustl.edu 37 2 103125352 103125352 + Missense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 103125352 103125352 C A SNP SLC9A4 ENST00000295269 human ensembl 74_37 +1 known missense c.1448 p.T483N 1.000 tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_NaH_exchanger,prints_Na/H_exchanger_2,tigrfam_NaH_exchanger - no_errors SLC9A4 HGNC ENSG00000180251 103 0 0 73 7 8.75 ODC1 0 genome.wustl.edu 37 2 10581970 10581970 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 10581970 10581970 G A SNP ODC1 ENST00000234111 human ensembl 74_37 -1 known silent c.999 p.H333 0.978 pfam_De-COase2_C,superfamily_Ala_racemase/Decarboxylase_C,prints_Orn_de-COase pfam_De-COase2_N,pfam_De-COase2_C,superfamily_Ala_racemase/Decarboxylase_C,prints_Orn_de-COase,prints_Orn/DAP/Arg_de-COase - no_errors ODC1 HGNC ENSG00000115758 154 0 0 61 26 29.8851 ST6GAL2 0 genome.wustl.edu 37 2 107459975 107459975 + Silent SNP G G C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 107459975 107459975 G C SNP ST6GAL2 ENST00000361686 human ensembl 74_37 -1 known silent c.459 p.P153 0.000 NULL pfam_Glyco_trans_29,superfamily_Glyco_hydro/deAcase_b/a-brl - no_errors ST6GAL2 HGNC ENSG00000144057 221 1 0.45045 142 50 26.0417 SLC5A7 0 genome.wustl.edu 37 2 108627289 108627289 + Missense_Mutation SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 108627289 108627289 G T SNP SLC5A7 ENST00000264047 human ensembl 74_37 +1 known missense c.1715 p.G572V 0.105 NULL pfam_Na/solute_symporter,pfscan_Na/solute_symporter - no_errors SLC5A7 HGNC ENSG00000115665 58 0 0 22 9 29.0323 SULT1C3 0 genome.wustl.edu 37 2 108863760 108863760 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 108863760 108863760 A G SNP SULT1C3 ENST00000329106 human ensembl 74_37 +1 known missense c.110 p.E37G 0.119 superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors SULT1C3 HGNC ENSG00000196228 98 0 0 37 39 51.3158 SULT1C2 0 genome.wustl.edu 37 2 108917317 108917317 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 108917317 108917317 C T SNP SULT1C2 ENST00000251481 human ensembl 74_37 +1 known missense c.301 p.P101S 1.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors SULT1C2 HGNC ENSG00000198203 103 1 0.961538 51 24 32 MALL 0 genome.wustl.edu 37 2 110849315 110849315 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 110849315 110849315 G A SNP MALL ENST00000424988 human ensembl 74_37 -1 known missense c.244 p.R82C 0.673 NULL NULL - no_errors MALL HGNC ENSG00000144063 104 0 0 64 15 18.9873 ROCK2 0 genome.wustl.edu 37 2 11333908 11333908 + Missense_Mutation SNP G G C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 11333908 11333908 G C SNP ROCK2 ENST00000315872 human ensembl 74_37 -1 known missense c.3684 p.F1228L 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Pleckstrin_homology pfam_Prot_kinase_dom,pfam_Rho-bd_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_tRNA-bd_arm,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors ROCK2 HGNC ENSG00000134318 48 0 0 21 2 8.69565 PSD4 0 genome.wustl.edu 37 2 113940629 113940629 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 113940629 113940629 C T SNP PSD4 ENST00000245796 human ensembl 74_37 +1 known missense c.596 p.T199M 0.000 NULL pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom,prints_PH_dom-spectrin-type - no_errors PSD4 HGNC ENSG00000125637 51 0 0 43 18 29.5082 PSD4 0 genome.wustl.edu 37 2 113950909 113950909 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 113950909 113950909 G A SNP PSD4 ENST00000245796 human ensembl 74_37 +1 known missense c.1994 p.R665H 1.000 pfam_Sec7_dom,superfamily_Sec7_dom,smart_Sec7_dom,pfscan_Sec7_dom pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom,prints_PH_dom-spectrin-type - no_errors PSD4 HGNC ENSG00000125637 79 0 0 35 30 46.1538 STEAP3 0 genome.wustl.edu 37 2 120020822 120020822 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 120020822 120020822 G A SNP STEAP3 ENST00000393110 human ensembl 74_37 +1 known missense c.1405 p.A469T 0.000 NULL pfam_Fe3_Rdtase_TM_dom - no_errors STEAP3 HGNC ENSG00000115107 65 0 0 51 33 39.2857 INHBB 0 genome.wustl.edu 37 2 121107172 121107172 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 121107172 121107172 G A SNP INHBB ENST00000295228 human ensembl 74_37 +1 known missense c.946 p.G316S 1.000 pfam_TGF-b_C,smart_TGF-b_C,prints_Inhibin_asu pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_betaB,prints_Inhibin_asu - no_errors INHBB HGNC ENSG00000163083 124 0 0 150 8 5.06329 GLI2 0 genome.wustl.edu 37 2 121728140 121728140 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 121728140 121728140 C T SNP GLI2 ENST00000361492 human ensembl 74_37 +1 known silent c.1017 p.T339 0.962 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI2 HGNC ENSG00000074047 71 0 0 39 28 41.791 BIN1 0 genome.wustl.edu 37 2 127821515 127821515 + Nonsense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 127821515 127821515 C T SNP BIN1 ENST00000316724 human ensembl 74_37 -1 known nonsense c.692 p.W231* 1.000 pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom,prints_Amphiphysin pfam_BAR_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,prints_Amphiphysin,prints_Amphiphysin_2,prints_SH3_domain - no_errors BIN1 HGNC ENSG00000136717 76 0 0 70 18 20.4545 SAP130 0 genome.wustl.edu 37 2 128770681 128770681 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 128770681 128770681 G A SNP SAP130 ENST00000357702 human ensembl 74_37 -1 known silent c.745 p.L249 1.000 NULL NULL - no_errors SAP130 HGNC ENSG00000136715 49 0 0 33 21 38.8889 SAP130 0 genome.wustl.edu 37 2 128772415 128772415 + Missense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 128772415 128772415 C A SNP SAP130 ENST00000357702 human ensembl 74_37 -1 known missense c.659 p.G220V 1.000 NULL NULL - no_errors SAP130 HGNC ENSG00000136715 59 0 0 35 10 22.2222 UGGT1 0 genome.wustl.edu 37 2 128886646 128886646 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 128886646 128886646 C T SNP UGGT1 ENST00000259253 human ensembl 74_37 +1 known silent c.1270 p.L424 1.000 NULL pfam_UDP-g_GGtrans - no_errors UGGT1 HGNC ENSG00000136731 102 0 0 30 33 52.381 POTEF 0 genome.wustl.edu 37 2 130832165 130832165 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 130832165 130832165 C T SNP POTEF ENST00000357462 human ensembl 74_37 -1 known silent c.2880 p.A960 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-related,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-related - no_errors POTEF HGNC ENSG00000196604 34 0 0 20 5 20 TUBA3E 0 genome.wustl.edu 37 2 130951632 130951632 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 130951632 130951632 C T SNP TUBA3E ENST00000312988 human ensembl 74_37 -1 known silent c.783 p.P261 0.905 superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin - no_errors TUBA3E HGNC ENSG00000152086 203 0 0 119 74 38.342 GPR148 0 genome.wustl.edu 37 2 131487357 131487357 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 131487357 131487357 G A SNP GPR148 ENST00000309926 human ensembl 74_37 +1 known silent c.633 p.P211 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors GPR148 HGNC ENSG00000173302 131 0 0 62 48 43.6364 POTEE 0 genome.wustl.edu 37 2 131976372 131976372 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 131976372 131976372 T C SNP POTEE ENST00000356920 human ensembl 74_37 +1 known missense c.397 p.Y133H 0.012 NULL pfam_Actin-related,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-related,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-related - no_errors POTEE HGNC ENSG00000188219 161 0 0 120 13 9.77444 ENSG00000229203 0 genome.wustl.edu 37 2 132587699 132587699 + RNA SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 132587699 132587699 G A SNP ENSG00000229203 ENST00000437330 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors AC103564.7 Clone_based_vega_gene ENSG00000229203 16 0 0 8 5 38.4615 MIR663B 0 genome.wustl.edu 37 2 133014554 133014554 + RNA SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 133014554 133014554 G T SNP MIR663B ENST00000408361 human ensembl 74_37 -1 known rna NULL NULL 0.025 - - - no_errors MIR663B HGNC ENSG00000221288 47 0 0 61 8 11.5942 MGAT5 0 genome.wustl.edu 37 2 135206337 135206337 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 135206337 135206337 C T SNP MGAT5 ENST00000281923 human ensembl 74_37 +1 known silent c.2145 p.G715 0.151 NULL NULL - no_errors MGAT5 HGNC ENSG00000152127 106 0 0 84 5 5.61798 ACMSD 0 genome.wustl.edu 37 2 135621077 135621077 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 135621077 135621077 C T SNP ACMSD ENST00000356140 human ensembl 74_37 +1 known missense c.362 p.A121V 1.000 pfam_Amidohydro_2 pfam_Amidohydro_2 - no_errors ACMSD HGNC ENSG00000153086 86 0 0 46 39 45.8824 RAB3GAP1 0 genome.wustl.edu 37 2 135848616 135848616 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 135848616 135848616 T C SNP RAB3GAP1 ENST00000264158 human ensembl 74_37 +1 known missense c.199 p.F67L 1.000 NULL NULL - no_errors RAB3GAP1 HGNC ENSG00000115839 119 0 0 33 18 35.2941 MCM6 0 genome.wustl.edu 37 2 136620237 136620237 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 136620237 136620237 C T SNP MCM6 ENST00000264156 human ensembl 74_37 -1 known missense c.1160 p.R387Q 1.000 pfam_MCM_DNA-dep_ATPase,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_DNA-dep_ATPase pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM6,prints_MCM_DNA-dep_ATPase - no_errors MCM6 HGNC ENSG00000076003 122 0 0 72 29 28.7129 LRP1B 0 genome.wustl.edu 37 2 141260673 141260673 + Splice_Site SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 141260673 141260673 C A SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known splice_site c.8522-1 e54-1 1.000 - - - no_errors LRP1B HGNC ENSG00000168702 72 0 0 20 12 37.5 LRP1B 0 genome.wustl.edu 37 2 141609292 141609292 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 141609292 141609292 T C SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.4640 p.N1547S 1.000 smart_EG-like_dom pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 115 0 0 52 35 40.2299 LRP1B 0 genome.wustl.edu 37 2 141946087 141946087 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 141946087 141946087 G A SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.916 p.R306W 1.000 pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,smart_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 75 0 0 17 12 41.3793 ENSG00000212181 0 genome.wustl.edu 37 2 149018184 149018184 + RNA SNP A A T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 149018184 149018184 A T SNP ENSG00000212181 ENST00000390879 human ensembl 74_37 -1 novel rna NULL NULL 0.000 - - - no_errors SNORA48 RFAM ENSG00000212181 23 0 0 15 9 37.5 MBD5 0 genome.wustl.edu 37 2 149227817 149227817 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 149227817 149227817 G A SNP MBD5 ENST00000407073 human ensembl 74_37 +1 known missense c.2305 p.V769I 1.000 NULL superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd,pfscan_PWWP_dom - no_errors MBD5 HGNC ENSG00000204406 146 0 0 55 49 47.1154 MBD5 0 genome.wustl.edu 37 2 149247420 149247420 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 149247420 149247420 A G SNP MBD5 ENST00000407073 human ensembl 74_37 +1 known missense c.3520 p.K1174E 1.000 NULL superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd,pfscan_PWWP_dom - no_errors MBD5 HGNC ENSG00000204406 103 0 0 48 40 45.4545 NEB 0 genome.wustl.edu 37 2 152500374 152500374 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 152500374 152500374 G A SNP NEB ENST00000397345 human ensembl 74_37 -1 known silent c.7914 p.S2638 0.025 smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 292 0 0 127 96 43.0493 GALNT13 0 genome.wustl.edu 37 2 155157975 155157975 + Silent SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 155157975 155157975 T C SNP GALNT13 ENST00000409237 human ensembl 74_37 +1 known silent c.1029 p.H343 0.900 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT13 HGNC ENSG00000144278 231 0 0 58 57 49.5652 CCDC148 0 genome.wustl.edu 37 2 159313006 159313006 + RNA SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 159313006 159313006 A G SNP CCDC148 ENST00000491563 human ensembl 74_37 -1 known rna NULL NULL 0.598 - - - no_errors CCDC148 HGNC ENSG00000153237 16 0 0 7 6 46.1538 TANC1 0 genome.wustl.edu 37 2 160086261 160086261 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 160086261 160086261 G A SNP TANC1 ENST00000263635 human ensembl 74_37 +1 known missense c.4324 p.E1442K 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TANC1 HGNC ENSG00000115183 151 1 0.657895 95 54 36.2416 LY75 0 genome.wustl.edu 37 2 160676263 160676263 + Missense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 160676263 160676263 C A SNP LY75 ENST00000554112 human ensembl 74_37 -1 known missense c.4127 p.S1376I 1.000 smart_C-type_lectin pfam_C-type_lectin,pfam_FN_type2_col-bd,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin - no_errors LY75 HGNC ENSG00000054219 132 0 0 41 26 38.806 LY75 0 genome.wustl.edu 37 2 160734894 160734894 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 160734894 160734894 G A SNP LY75 ENST00000554112 human ensembl 74_37 -1 known missense c.1715 p.A572V 0.995 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_FN_type2_col-bd,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin - no_errors LY75 HGNC ENSG00000054219 118 0 0 62 27 30.3371 TBR1 0 genome.wustl.edu 37 2 162275407 162275407 + Missense_Mutation SNP T T A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 162275407 162275407 T A SNP TBR1 ENST00000389554 human ensembl 74_37 +1 known missense c.974 p.V325E 1.000 pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBR1 HGNC ENSG00000136535 106 0 0 54 45 45.4545 TBR1 0 genome.wustl.edu 37 2 162280648 162280648 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 162280648 162280648 G A SNP TBR1 ENST00000389554 human ensembl 74_37 +1 known silent c.1959 p.P653 0.961 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBR1 HGNC ENSG00000136535 24 0 0 8 10 55.5556 SLC38A11 0 genome.wustl.edu 37 2 165755181 165755181 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 165755181 165755181 C T SNP SLC38A11 ENST00000409149 human ensembl 74_37 -1 known silent c.987 p.L329 0.998 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC38A11 HGNC ENSG00000169507 59 0 0 39 18 31.5789 SCN2A 0 genome.wustl.edu 37 2 166165865 166165865 + Silent SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 166165865 166165865 T C SNP SCN2A ENST00000283256 human ensembl 74_37 +1 known silent c.609 p.Y203 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN2A HGNC ENSG00000136531 57 0 0 26 21 44.6809 SCN2A 0 genome.wustl.edu 37 2 166246013 166246013 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 166246013 166246013 G A SNP SCN2A ENST00000283256 human ensembl 74_37 +1 known silent c.5697 p.T1899 0.472 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN2A HGNC ENSG00000136531 72 0 0 33 20 37.7358 SCN7A 0 genome.wustl.edu 37 2 167262953 167262953 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 167262953 167262953 C T SNP SCN7A ENST00000409855 human ensembl 74_37 -1 known missense c.4186 p.V1396I 0.999 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN7A HGNC ENSG00000136546 130 0 0 42 27 39.1304 CERS6 0 genome.wustl.edu 37 2 169417819 169417819 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 169417819 169417819 T C SNP CERS6 ENST00000392687 human ensembl 74_37 +1 known missense c.394 p.F132L 1.000 pfam_TLC-dom,smart_TLC-dom,pirsf_Longevity_assurance_LAG1_LAC1,pfscan_TLC-dom pfam_TLC-dom,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_TLC-dom,pirsf_Longevity_assurance_LAG1_LAC1,pfscan_TLC-dom,pfscan_Homeobox_dom - no_errors CERS6 HGNC ENSG00000172292 118 0 0 70 46 39.6552 ABCB11 0 genome.wustl.edu 37 2 169781256 169781256 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 169781256 169781256 G A SNP ABCB11 ENST00000263817 human ensembl 74_37 -1 known missense c.3676 p.R1226C 1.000 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB11 HGNC ENSG00000073734 104 0 0 63 6 8.69565 LRP2 0 genome.wustl.edu 37 2 170135979 170135979 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 170135979 170135979 G A SNP LRP2 ENST00000263816 human ensembl 74_37 -1 known missense c.1468 p.R490C 1.000 pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP2 HGNC ENSG00000081479 126 0 0 42 18 30 KLHL41 0 genome.wustl.edu 37 2 170366496 170366496 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 170366496 170366496 A G SNP KLHL41 ENST00000284669 human ensembl 74_37 +1 known missense c.208 p.K70E 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL41 HGNC ENSG00000239474 198 1 0.502513 124 14 10.1449 KLHL41 0 genome.wustl.edu 37 2 170367065 170367065 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 170367065 170367065 C T SNP KLHL41 ENST00000284669 human ensembl 74_37 +1 known silent c.777 p.F259 0.989 pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL41 HGNC ENSG00000239474 107 0 0 68 48 41.3793 PHOSPHO2 0 genome.wustl.edu 37 2 170557504 170557504 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 170557504 170557504 A G SNP PHOSPHO2 ENST00000359744 human ensembl 74_37 +1 known missense c.23 p.D8G 1.000 pfam_Pase_PHOSPHO-typ,superfamily_HAD-like_dom,pirsf_Pase_PHOSPHO-typ,tigrfam_PyrdxlP_Pase-rel,tigrfam_HAD-SF_hydro_IB_PSP-like pfam_Pase_PHOSPHO-typ,superfamily_HAD-like_dom,pirsf_Pase_PHOSPHO-typ,tigrfam_PyrdxlP_Pase-rel,tigrfam_HAD-SF_hydro_IB_PSP-like - no_errors PHOSPHO2 HGNC ENSG00000144362 74 0 0 23 9 28.125 HOXD10 0 genome.wustl.edu 37 2 176974001 176974001 + RNA SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 176974001 176974001 C T SNP HOXD10 ENST00000490088 human ensembl 74_37 +1 known rna NULL NULL 0.990 - - - no_errors HOXD10 HGNC ENSG00000128710 14 0 0 12 11 47.8261 HOXD9 0 genome.wustl.edu 37 2 176987530 176987530 + Missense_Mutation SNP T T A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 176987530 176987530 T A SNP HOXD9 ENST00000249499 human ensembl 74_37 +1 known missense c.34 p.S12T 1.000 pfam_Hox9_activation_N,pirsf_Homeobox_Hox9 pfam_Hox9_activation_N,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pirsf_Homeobox_Hox9,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXD9 HGNC ENSG00000128709 37 0 0 37 7 15.9091 TTC30A 0 genome.wustl.edu 37 2 178482964 178482964 + Missense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 178482964 178482964 C A SNP TTC30A ENST00000355689 human ensembl 74_37 -1 known missense c.466 p.G156C 0.998 smart_TPR_repeat,pfscan_TPR-contain_dom smart_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC30A HGNC ENSG00000197557 177 0 0 106 59 35.7576 PLEKHA3 0 genome.wustl.edu 37 2 179355475 179355475 + Silent SNP A A C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 179355475 179355475 A C SNP PLEKHA3 ENST00000234453 human ensembl 74_37 +1 known silent c.247 p.R83 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHA3 HGNC ENSG00000116095 30 0 0 12 10 45.4545 TTN-AS1 0 genome.wustl.edu 37 2 179403573 179403573 + RNA SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 179403573 179403573 T C SNP TTN-AS1 ENST00000415561 human ensembl 74_37 +1 known rna NULL NULL 0.420 - - - no_errors TTN-AS1 HGNC ENSG00000237298 82 0 0 28 19 40.4255 TTN 0 genome.wustl.edu 37 2 179438111 179438111 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 179438111 179438111 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.65044 p.G21682S 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 81 0 0 63 4 5.97015 TTN 0 genome.wustl.edu 37 2 179458084 179458084 + Missense_Mutation SNP C C G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 179458084 179458084 C G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.51147 p.K17049N 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 138 0 0 49 43 46.7391 TTN 0 genome.wustl.edu 37 2 179459139 179459139 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 179459139 179459139 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.50378 p.A16793V 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 86 0 0 46 35 43.2099 TTN 0 genome.wustl.edu 37 2 179484491 179484491 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 179484491 179484491 A G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.38849 p.V12950A 0.989 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 162 0 0 75 37 33.0357 TTN 0 genome.wustl.edu 37 2 179500703 179500703 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 179500703 179500703 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.33891 p.C11297 0.376 superfamily_Calpain_domain_III,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 130 0 0 62 26 29.5455 TTN 0 genome.wustl.edu 37 2 179605004 179605004 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 179605004 179605004 G A SNP TTN ENST00000342175 human ensembl 74_37 -1 known missense c.12443 p.A4148V 1.000 superfamily_RNaseH-like_dom pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 94 0 0 57 4 6.55738 ITGAV 0 genome.wustl.edu 37 2 187533573 187533573 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 187533573 187533573 T C SNP ITGAV ENST00000261023 human ensembl 74_37 +1 known missense c.2518 p.Y840H 1.000 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGAV HGNC ENSG00000138448 77 0 0 43 21 32.8125 ZSWIM2 0 genome.wustl.edu 37 2 187703885 187703885 + Missense_Mutation SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 187703885 187703885 G T SNP ZSWIM2 ENST00000295131 human ensembl 74_37 -1 known missense c.295 p.L99M 0.965 NULL pfam_Znf_SWIM,pfam_Znf_ZZ,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Znf_ZZ - no_errors ZSWIM2 HGNC ENSG00000163012 143 0 0 88 9 9.27835 ANKAR 0 genome.wustl.edu 37 2 190557866 190557866 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 190557866 190557866 T C SNP ANKAR ENST00000313581 human ensembl 74_37 +1 known missense c.1270 p.Y424H 0.987 NULL pfam_Armadillo,superfamily_ARM-type_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Armadillo,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Armadillo - no_errors ANKAR HGNC ENSG00000151687 75 0 0 34 14 29.1667 GLS 0 genome.wustl.edu 37 2 191819482 191819482 + Silent SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 191819482 191819482 T C SNP GLS ENST00000320717 human ensembl 74_37 +1 known silent c.1791 p.G597 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Glutaminase,pfam_Ankyrin_rpt,superfamily_Beta-lactam/transpept-like,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_Glutaminase - no_errors GLS HGNC ENSG00000115419 72 0 0 25 16 39.0244 SDPR 0 genome.wustl.edu 37 2 192700726 192700726 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 192700726 192700726 G A SNP SDPR ENST00000304141 human ensembl 74_37 -1 known silent c.1201 p.L401 0.000 NULL NULL - no_errors SDPR HGNC ENSG00000168497 125 0 0 96 12 11.1111 DNAH7 0 genome.wustl.edu 37 2 196753019 196753019 + Missense_Mutation SNP A A T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 196753019 196753019 A T SNP DNAH7 ENST00000312428 human ensembl 74_37 -1 known missense c.5369 p.V1790D 0.986 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom - no_errors DNAH7 HGNC ENSG00000118997 38 0 0 9 10 52.6316 SF3B1 0 genome.wustl.edu 37 2 198285196 198285196 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 198285196 198285196 C T SNP SF3B1 ENST00000335508 human ensembl 74_37 -1 known missense c.371 p.R124Q 1.000 NULL pfam_SF3b_su1,superfamily_ARM-type_fold - no_errors SF3B1 HGNC ENSG00000115524 119 0 0 86 5 5.49451 MOB4 0 genome.wustl.edu 37 2 198405143 198405143 + Silent SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 198405143 198405143 T C SNP MOB4 ENST00000323303 human ensembl 74_37 +1 known silent c.336 p.A112 1.000 pfam_Mob1_phocein,superfamily_Mob1_phocein pfam_Mob1_phocein,superfamily_Mob1_phocein - no_errors MOB4 HGNC ENSG00000115540 50 0 0 25 3 10.7143 SATB2 0 genome.wustl.edu 37 2 200137088 200137088 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 200137088 200137088 G A SNP SATB2 ENST00000260926 human ensembl 74_37 -1 known missense c.2048 p.A683V 0.987 NULL pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT - no_errors SATB2 HGNC ENSG00000119042 157 0 0 72 44 37.931 WDR35 0 genome.wustl.edu 37 2 20188933 20188933 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 20188933 20188933 C T SNP WDR35 ENST00000345530 human ensembl 74_37 -1 known silent c.135 p.T45 0.874 pirsf_WD_repeat_p35 pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pirsf_WD_repeat_p35,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR35 HGNC ENSG00000118965 116 0 0 77 6 7.22892 CASP8 0 genome.wustl.edu 37 2 202131222 202131222 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 202131222 202131222 A G SNP CASP8 ENST00000358485 human ensembl 74_37 +1 known missense c.190 p.R64G 0.000 pfam_DED,superfamily_DEATH-like_dom,smart_DED,pfscan_DED pfam_DED,pfam_Pept_C14_caspase,superfamily_DEATH-like_dom,smart_DED,smart_Pept_C14A_p45_core,pfscan_DED,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core - no_errors CASP8 HGNC ENSG00000064012 67 0 0 37 22 37.2881 TMEM237 0 genome.wustl.edu 37 2 202498046 202498046 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 202498046 202498046 C T SNP TMEM237 ENST00000409883 human ensembl 74_37 -1 known missense c.383 p.R128Q 1.000 NULL NULL - no_errors TMEM237 HGNC ENSG00000155755 10 0 0 5 5 50 MPP4 0 genome.wustl.edu 37 2 202510002 202510002 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 202510002 202510002 T C SNP MPP4 ENST00000359962 human ensembl 74_37 -1 known missense c.1845 p.I615M 0.681 pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,smart_GK/Ca_channel_bsu,pfscan_Guanylate_kin-like pfam_GK/Ca_channel_bsu,pfam_L27_C,pfam_PDZ,pfam_SH3_2,pfam_SH3_domain,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors MPP4 HGNC ENSG00000082126 59 0 0 43 21 32.8125 CRYGB 0 genome.wustl.edu 37 2 209007411 209007411 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 209007411 209007411 G A SNP CRYGB ENST00000260988 human ensembl 74_37 -1 known missense c.479 p.A160V 0.946 pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,prints_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin - no_errors CRYGB HGNC ENSG00000182187 139 0 0 69 38 35.514 IDH1 0 genome.wustl.edu 37 2 209110079 209110079 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 209110079 209110079 T C SNP IDH1 ENST00000345146 human ensembl 74_37 -1 known missense c.484 p.T162A 0.055 pfam_IsoPropMal-DH-like_dom,pirsf_Isocitrate_DH_NADP,tigrfam_Isocitrate_DH_NADP pfam_IsoPropMal-DH-like_dom,pirsf_Isocitrate_DH_NADP,tigrfam_Isocitrate_DH_NADP - no_errors IDH1 HGNC ENSG00000138413 125 0 0 45 20 30.7692 PIKFYVE 0 genome.wustl.edu 37 2 209204275 209204275 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 209204275 209204275 C T SNP PIKFYVE ENST00000264380 human ensembl 74_37 +1 known silent c.4806 p.S1602 0.037 NULL pfam_PInositol-4-P-5-kinase_core,pfam_Cpn60/TCP-1,pfam_DEP_dom,pfam_Znf_FYVE,superfamily_GroEL-like_apical_dom,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,smart_DEP_dom,smart_PInositol-4P-5-kinase_core_sub,pfscan_DEP_dom,pfscan_Znf_FYVE-rel - no_errors PIKFYVE HGNC ENSG00000115020 86 0 0 34 31 47.6923 RPE 0 genome.wustl.edu 37 2 210881345 210881345 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 210881345 210881345 A G SNP RPE ENST00000359429 human ensembl 74_37 +1 known missense c.457 p.M153V 1.000 pfam_Ribul_P_3_epim-like,superfamily_RibuloseP-bd_barrel,tigrfam_Ribul_P_3_epim-like pfam_Ribul_P_3_epim-like,superfamily_RibuloseP-bd_barrel,tigrfam_Ribul_P_3_epim-like - no_errors RPE HGNC ENSG00000197713 149 0 0 64 49 43.3628 APOB 0 genome.wustl.edu 37 2 21234835 21234835 + Missense_Mutation SNP T T G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 21234835 21234835 T G SNP APOB ENST00000233242 human ensembl 74_37 -1 known missense c.4905 p.K1635N 0.000 NULL pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 82 0 0 34 21 38.1818 APOB 0 genome.wustl.edu 37 2 21255259 21255259 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 21255259 21255259 G A SNP APOB ENST00000233242 human ensembl 74_37 -1 known missense c.1319 p.A440V 1.000 pfam_Lipid_transpt_N,superfamily_Vitellinogen_superhlx,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 95 0 0 75 26 25.7426 ABCA12 0 genome.wustl.edu 37 2 215866295 215866295 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 215866295 215866295 G A SNP ABCA12 ENST00000272895 human ensembl 74_37 -1 known silent c.2850 p.N950 0.918 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA12 HGNC ENSG00000144452 159 0 0 59 30 33.7079 FN1 0 genome.wustl.edu 37 2 216292965 216292965 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 216292965 216292965 G A SNP FN1 ENST00000354785 human ensembl 74_37 -1 known missense c.782 p.T261I 0.999 pfam_Fibronectin_type1,smart_Fibronectin_type1,pfscan_Fibronectin_type1 pfam_Fibronectin_type3,pfam_Fibronectin_type1,pfam_FN_type2_col-bd,superfamily_Kringle-like,superfamily_Fibronectin_type3,smart_Fibronectin_type1,smart_FN_type2_col-bd,smart_Fibronectin_type3,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Fibronectin_type3 - no_errors FN1 HGNC ENSG00000115414 124 0 0 52 5 8.77193 XRCC5 0 genome.wustl.edu 37 2 217069075 217069075 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 217069075 217069075 G A SNP XRCC5 ENST00000392132 human ensembl 74_37 +1 known missense c.2140 p.D714N 0.004 NULL pfam_Ku_N,pfam_Ku_PK_bind,pfam_Ku70/Ku80_beta-barrel_dom,pfam_Ku_C,superfamily_SPOC_like_C_dom,superfamily_Ku_PK_bind,smart_VWF_A,smart_Ku70/Ku80_beta-barrel_dom - no_errors XRCC5 HGNC ENSG00000079246 116 0 0 56 28 33.3333 IGFBP2 0 genome.wustl.edu 37 2 217526674 217526674 + Missense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 217526674 217526674 C A SNP IGFBP2 ENST00000233809 human ensembl 74_37 +1 known missense c.766 p.L256M 1.000 pfam_Thyroglobulin_1,superfamily_Thyroglobulin_1,pfscan_Thyroglobulin_1 pfam_Thyroglobulin_1,pfam_IGFBP-like,superfamily_Thyroglobulin_1,superfamily_Growth_fac_rcpt_N_dom,smart_IGFBP-like,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1,prints_IGFBP_1-6_chordata,prints_IGFBP-2 - no_errors IGFBP2 HGNC ENSG00000115457 76 0 0 31 35 53.0303 TNS1 0 genome.wustl.edu 37 2 218713553 218713553 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 218713553 218713553 G A SNP TNS1 ENST00000171887 human ensembl 74_37 -1 known missense c.1312 p.R438W 0.735 NULL pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_dom,smart_Tyr_Pase_cat,smart_SH2,smart_PTB/PI_dom,pfscan_SH2,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TNS1 HGNC ENSG00000079308 103 0 0 57 31 35.2273 WNT10A 0 genome.wustl.edu 37 2 219757584 219757584 + Missense_Mutation SNP A A T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 219757584 219757584 A T SNP WNT10A ENST00000258411 human ensembl 74_37 +1 known missense c.845 p.E282V 1.000 pfam_Wnt,smart_Wnt pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt10 - no_errors WNT10A HGNC ENSG00000135925 11 0 0 5 3 37.5 CCDC108 0 genome.wustl.edu 37 2 219878669 219878669 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 219878669 219878669 C T SNP CCDC108 ENST00000341552 human ensembl 74_37 -1 known missense c.3700 p.D1234N 1.000 NULL superfamily_PapD-like,pfscan_MSP_dom - no_errors CCDC108 HGNC ENSG00000181378 39 0 0 13 14 51.8519 CCDC108 0 genome.wustl.edu 37 2 219900228 219900228 + Silent SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 219900228 219900228 G T SNP CCDC108 ENST00000341552 human ensembl 74_37 -1 known silent c.516 p.S172 0.004 NULL superfamily_PapD-like,pfscan_MSP_dom - no_errors CCDC108 HGNC ENSG00000181378 125 0 0 42 30 41.6667 NHEJ1 0 genome.wustl.edu 37 2 220012447 220012447 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 220012447 220012447 G A SNP NHEJ1 ENST00000409720 human ensembl 74_37 -1 known missense c.461 p.A154V 0.104 pfam_XLF/Cernunnos pfam_XLF/Cernunnos - no_errors NHEJ1 HGNC ENSG00000187736 79 0 0 31 11 26.1905 CHPF 0 genome.wustl.edu 37 2 220404387 220404387 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 220404387 220404387 G A SNP CHPF ENST00000243776 human ensembl 74_37 -1 known silent c.2046 p.S682 0.037 pfam_Chond_GalNAc pfam_Chond_GalNAc - no_errors CHPF HGNC ENSG00000123989 105 0 0 71 18 20.2247 CHPF 0 genome.wustl.edu 37 2 220406868 220406868 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 220406868 220406868 G A SNP CHPF ENST00000243776 human ensembl 74_37 -1 known silent c.358 p.L120 0.999 NULL pfam_Chond_GalNAc - no_errors CHPF HGNC ENSG00000123989 10 0 0 10 4 28.5714 CCDC140 0 genome.wustl.edu 37 2 223168661 223168661 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 223168661 223168661 C T SNP CCDC140 ENST00000295226 human ensembl 74_37 +1 known missense c.40 p.P14S 0.001 NULL NULL - no_errors CCDC140 HGNC ENSG00000163081 28 0 0 12 15 55.5556 ACSL3 0 genome.wustl.edu 37 2 223791735 223791735 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 223791735 223791735 C T SNP ACSL3 ENST00000357430 human ensembl 74_37 +1 known silent c.1293 p.S431 0.647 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSL3 HGNC ENSG00000123983 45 0 0 26 9 25.7143 WDFY1 0 genome.wustl.edu 37 2 224765909 224765909 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 224765909 224765909 G A SNP WDFY1 ENST00000233055 human ensembl 74_37 -1 known missense c.476 p.S159L 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_Znf_FYVE,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,smart_WD40_repeat,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDFY1 HGNC ENSG00000085449 68 0 0 47 13 21.6667 NYAP2 0 genome.wustl.edu 37 2 226446794 226446794 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 226446794 226446794 T C SNP NYAP2 ENST00000272907 human ensembl 74_37 +1 known missense c.661 p.S221P 0.237 NULL NULL - no_errors NYAP2 HGNC ENSG00000144460 230 0 0 112 63 36 NYAP2 0 genome.wustl.edu 37 2 226447029 226447029 + Missense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 226447029 226447029 C A SNP NYAP2 ENST00000272907 human ensembl 74_37 +1 known missense c.896 p.P299H 1.000 NULL NULL - no_errors NYAP2 HGNC ENSG00000144460 107 0 0 75 35 31.8182 PID1 0 genome.wustl.edu 37 2 230020598 230020598 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 230020598 230020598 G A SNP PID1 ENST00000354069 human ensembl 74_37 -1 known missense c.212 p.P71L 1.000 NULL pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom - no_errors PID1 HGNC ENSG00000153823 116 0 0 61 40 39.604 SLC16A14 0 genome.wustl.edu 37 2 230910788 230910788 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 230910788 230910788 C T SNP SLC16A14 ENST00000295190 human ensembl 74_37 -1 known missense c.1054 p.V352I 0.010 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A14 HGNC ENSG00000163053 80 0 0 44 31 41.3333 SP140 0 genome.wustl.edu 37 2 231175530 231175530 + Missense_Mutation SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 231175530 231175530 G T SNP SP140 ENST00000392045 human ensembl 74_37 +1 known missense c.2247 p.E749D 0.995 superfamily_Bromodomain pfam_Sp100,pfam_SAND_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom,pfscan_Bromodomain - no_errors SP140 HGNC ENSG00000079263 22 0 0 6 6 50 ALPI 0 genome.wustl.edu 37 2 233322328 233322328 + Silent SNP T T G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 233322328 233322328 T G SNP ALPI ENST00000295463 human ensembl 74_37 +1 known silent c.702 p.P234 0.994 pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase,prints_Alkaline_phosphatase - no_errors ALPI HGNC ENSG00000163295 82 0 0 88 22 20 CHRND 0 genome.wustl.edu 37 2 233394699 233394699 + Missense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 233394699 233394699 C A SNP CHRND ENST00000258385 human ensembl 74_37 +1 known missense c.670 p.P224T 0.998 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRND HGNC ENSG00000135902 94 0 0 106 9 7.82609 DGKD 0 genome.wustl.edu 37 2 234343475 234343475 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 234343475 234343475 G A SNP DGKD ENST00000264057 human ensembl 74_37 +1 known missense c.514 p.A172T 1.000 pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_SAM_2,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_SAM_type1,pfam_Pleckstrin_homology,superfamily_SAM/pointed,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_SAM,pfscan_Pleckstrin_homology,pfscan_SAM,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors DGKD HGNC ENSG00000077044 169 0 0 104 38 26.7606 UGT1A9 0 genome.wustl.edu 37 2 234581202 234581202 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 234581202 234581202 C T SNP UGT1A9 ENST00000354728 human ensembl 74_37 +1 known missense c.622 p.R208W 0.000 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT1A9 HGNC ENSG00000241119 384 0 0 189 55 22.541 SH3BP4 0 genome.wustl.edu 37 2 235950198 235950198 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 235950198 235950198 C T SNP SH3BP4 ENST00000344528 human ensembl 74_37 +1 known missense c.785 p.S262L 0.020 NULL pfam_SH3_2,pfam_SH3_domain,pfam_ZU5,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors SH3BP4 HGNC ENSG00000130147 241 0 0 163 32 16.4103 SH3BP4 0 genome.wustl.edu 37 2 235962450 235962450 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 235962450 235962450 T C SNP SH3BP4 ENST00000344528 human ensembl 74_37 +1 known missense c.2882 p.F961S 0.421 NULL pfam_SH3_2,pfam_SH3_domain,pfam_ZU5,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors SH3BP4 HGNC ENSG00000130147 123 0 0 73 62 45.9259 AGAP1 0 genome.wustl.edu 37 2 236877211 236877211 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 236877211 236877211 G A SNP AGAP1 ENST00000304032 human ensembl 74_37 +1 known missense c.1589 p.R530Q 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_ArfGAP,pfam_MIRO-like,pfam_Small_GTPase,pfam_Ankyrin_rpt,pfam_Pleckstrin_homology,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP,prints_Small_GTPase - no_errors AGAP1 HGNC ENSG00000157985 81 0 0 58 35 37.6344 AGAP1 0 genome.wustl.edu 37 2 237032729 237032729 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 237032729 237032729 G A SNP AGAP1 ENST00000304032 human ensembl 74_37 +1 known missense c.2537 p.R846Q 1.000 NULL pfam_ArfGAP,pfam_MIRO-like,pfam_Small_GTPase,pfam_Ankyrin_rpt,pfam_Pleckstrin_homology,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP,prints_Small_GTPase - no_errors AGAP1 HGNC ENSG00000157985 58 0 0 41 26 38.806 GBX2 0 genome.wustl.edu 37 2 237074930 237074930 + Missense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 237074930 237074930 C A SNP GBX2 ENST00000306318 human ensembl 74_37 -1 known missense c.674 p.G225V 0.987 superfamily_Homeodomain-like pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors GBX2 HGNC ENSG00000168505 79 0 0 52 33 38.8235 ACKR3 0 genome.wustl.edu 37 2 237489698 237489698 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 237489698 237489698 G A SNP ACKR3 ENST00000272928 human ensembl 74_37 +1 known missense c.590 p.R197Q 0.999 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR7 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR7,prints_GPCR_Rhodpsn,prints_ATII_rcpt,prints_Formyl_pep_rcpt - no_errors ACKR3 HGNC ENSG00000144476 192 0 0 80 71 47.0199 ESPNL 0 genome.wustl.edu 37 2 239040005 239040005 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 239040005 239040005 G A SNP ESPNL ENST00000343063 human ensembl 74_37 +1 known missense c.2650 p.E884K 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ESPNL HGNC ENSG00000144488 11 0 0 7 9 56.25 TRAF3IP1 0 genome.wustl.edu 37 2 239234538 239234538 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 239234538 239234538 G A SNP TRAF3IP1 ENST00000373327 human ensembl 74_37 +1 known missense c.281 p.R94Q 0.756 NULL NULL - no_errors TRAF3IP1 HGNC ENSG00000204104 64 0 0 44 19 30.1587 OR6B2 0 genome.wustl.edu 37 2 240969551 240969551 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 240969551 240969551 G A SNP OR6B2 ENST00000402971 human ensembl 74_37 -1 known missense c.296 p.T99M 0.609 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6B2 HGNC ENSG00000182083 80 0 0 79 19 19.3878 ANKMY1 0 genome.wustl.edu 37 2 241463539 241463539 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 241463539 241463539 C T SNP ANKMY1 ENST00000272972 human ensembl 74_37 -1 known missense c.1328 p.G443D 0.000 superfamily_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_MORN,pfam_Znf_MYND,superfamily_Ankyrin_rpt-contain_dom,smart_MORN,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Znf_MYND - no_errors ANKMY1 HGNC ENSG00000144504 94 0 0 88 9 9.27835 PASK 0 genome.wustl.edu 37 2 242066644 242066644 + Silent SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 242066644 242066644 A G SNP PASK ENST00000358649 human ensembl 74_37 -1 known silent c.1686 p.A562 0.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PAS_fold,superfamily_Kinase-like_dom,superfamily_PAS,smart_PAS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_PAS,pfscan_Prot_kinase_dom,tigrfam_PAS - no_errors PASK HGNC ENSG00000115687 212 0 0 134 79 37.0892 PPP1R7 0 genome.wustl.edu 37 2 242105824 242105824 + Missense_Mutation SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 242105824 242105824 G T SNP PPP1R7 ENST00000234038 human ensembl 74_37 +1 known missense c.787 p.G263C 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_U2A'_phosphoprotein32A_C - no_errors PPP1R7 HGNC ENSG00000115685 51 0 0 17 18 51.4286 THAP4 0 genome.wustl.edu 37 2 242545825 242545825 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 242545825 242545825 T C SNP THAP4 ENST00000407315 human ensembl 74_37 -1 known missense c.1304 p.D435G 1.000 pfam_DUF1794,superfamily_Calycin-like pfam_DUF1794,pfam_Znf_C2CH,superfamily_Calycin-like,smart_Znf_C2CH,pfscan_Znf_C2CH - no_errors THAP4 HGNC ENSG00000176946 19 0 0 7 4 36.3636 POMC 0 genome.wustl.edu 37 2 25384367 25384367 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 25384367 25384367 C T SNP POMC ENST00000264708 human ensembl 74_37 -1 known silent c.387 p.K129 0.008 NULL pfam_Mcrtin_ACTH_cent,pfam_Melanocortin_N,pfam_Opioid_neuropept,prints_Mcortin_ACTH - no_errors POMC HGNC ENSG00000115138 23 0 0 13 10 43.4783 ASXL2 0 genome.wustl.edu 37 2 25965028 25965028 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 25965028 25965028 A G SNP ASXL2 ENST00000435504 human ensembl 74_37 -1 known missense c.4178 p.I1393T 0.996 superfamily_Znf_FYVE_PHD superfamily_Znf_FYVE_PHD - no_errors ASXL2 HGNC ENSG00000143970 114 0 0 57 25 30.4878 HADHA 0 genome.wustl.edu 37 2 26435415 26435415 + Silent SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 26435415 26435415 A G SNP HADHA ENST00000457468 human ensembl 74_37 -1 known silent c.738 p.V246 0.042 NULL pfam_Crotonase_core_superfam - no_errors HADHA HGNC ENSG00000084754 69 0 0 37 17 31.4815 DRC1 0 genome.wustl.edu 37 2 26654771 26654771 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 26654771 26654771 G A SNP DRC1 ENST00000288710 human ensembl 74_37 +1 known missense c.785 p.R262H 1.000 NULL NULL - no_errors DRC1 HGNC ENSG00000157856 125 0 0 56 37 39.7849 KCNK3 0 genome.wustl.edu 37 2 26950678 26950678 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 26950678 26950678 G A SNP KCNK3 ENST00000302909 human ensembl 74_37 +1 known missense c.427 p.A143T 0.981 pirsf_2pore_dom_K_chnl_TASK pfam_2pore_dom_K_chnl_dom,pirsf_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl_TASK,prints_KCNK3,prints_2pore_dom_K_chnl - no_errors KCNK3 HGNC ENSG00000171303 115 1 0.862069 90 6 6.25 SLC35F6 0 genome.wustl.edu 37 2 26999331 26999331 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 26999331 26999331 G A SNP SLC35F6 ENST00000344420 human ensembl 74_37 +1 known silent c.627 p.L209 0.543 pfam_SLC35_F1/F2/F6,pfam_Tpt_PEP_trans_dom,pfam_UAA,pirsf_UCP036436 pfam_SLC35_F1/F2/F6,pfam_Nuc_sug_transpt,pfam_DMT,pfam_Tpt_PEP_trans_dom,pfam_UAA,pirsf_UCP036436 - no_errors SLC35F6 HGNC ENSG00000213699 65 0 0 42 29 40.8451 DPYSL5 0 genome.wustl.edu 37 2 27121383 27121383 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 27121383 27121383 G A SNP DPYSL5 ENST00000288699 human ensembl 74_37 +1 known missense c.16 p.A6T 1.000 NULL pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors DPYSL5 HGNC ENSG00000157851 289 0 0 153 98 39.0438 DPYSL5 0 genome.wustl.edu 37 2 27169837 27169837 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 27169837 27169837 G A SNP DPYSL5 ENST00000288699 human ensembl 74_37 +1 known missense c.1669 p.G557R 1.000 NULL pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors DPYSL5 HGNC ENSG00000157851 30 0 0 19 14 42.4242 SLC5A6 0 genome.wustl.edu 37 2 27428246 27428246 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 27428246 27428246 A G SNP SLC5A6 ENST00000310574 human ensembl 74_37 -1 known missense c.706 p.S236P 0.084 pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A6 HGNC ENSG00000138074 107 0 0 50 35 41.1765 ZNF512 0 genome.wustl.edu 37 2 27844169 27844169 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 27844169 27844169 C T SNP ZNF512 ENST00000355467 human ensembl 74_37 +1 known silent c.1545 p.P515 0.004 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF512 HGNC ENSG00000243943 101 0 0 53 39 42.3913 GALNT14 0 genome.wustl.edu 37 2 31167736 31167736 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 31167736 31167736 G A SNP GALNT14 ENST00000349752 human ensembl 74_37 -1 known missense c.815 p.T272M 0.460 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT14 HGNC ENSG00000158089 105 0 0 44 31 41.3333 TTC27 0 genome.wustl.edu 37 2 32865440 32865440 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 32865440 32865440 T C SNP TTC27 ENST00000317907 human ensembl 74_37 +1 known missense c.500 p.I167T 0.942 NULL pfam_TPR_2,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC27 HGNC ENSG00000018699 67 0 0 26 26 50 TTC27 0 genome.wustl.edu 37 2 32889536 32889536 + Splice_Site SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 32889536 32889536 T C SNP TTC27 ENST00000317907 human ensembl 74_37 +1 known splice_site c.805+2 e6+2 1.000 - - - no_errors TTC27 HGNC ENSG00000018699 47 0 0 21 16 43.2432 COLEC11 0 genome.wustl.edu 37 2 3691463 3691463 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 3691463 3691463 G A SNP COLEC11 ENST00000418971 human ensembl 74_37 +1 known missense c.613 p.A205T 0.255 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors COLEC11 HGNC ENSG00000118004 71 0 0 39 41 51.25 VIT 0 genome.wustl.edu 37 2 37035867 37035867 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 37035867 37035867 C T SNP VIT ENST00000379242 human ensembl 74_37 +1 known missense c.1642 p.R548C 0.962 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_LCCL,superfamily_LCCL,smart_LCCL,smart_VWF_A,pfscan_LCCL,pfscan_VWF_A - no_errors VIT HGNC ENSG00000205221 104 0 0 31 31 50 HEATR5B 0 genome.wustl.edu 37 2 37267563 37267563 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 37267563 37267563 C T SNP HEATR5B ENST00000233099 human ensembl 74_37 -1 known silent c.2955 p.L985 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR5B HGNC ENSG00000008869 128 0 0 42 26 38.2353 CDKL4 0 genome.wustl.edu 37 2 39440547 39440547 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 39440547 39440547 T C SNP CDKL4 ENST00000378803 human ensembl 74_37 -1 known missense c.357 p.I119M 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 CDKL4 HGNC ENSG00000205111 87 0 0 46 4 8 ZFP36L2 0 genome.wustl.edu 37 2 43452855 43452855 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 43452855 43452855 T C SNP ZFP36L2 ENST00000282388 human ensembl 74_37 -1 known missense c.88 p.M30V 1.000 pfam_Tis11B_N pfam_Tis11B_N,pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZFP36L2 HGNC ENSG00000152518 21 0 0 13 12 48 SIX3 0 genome.wustl.edu 37 2 45170049 45170049 + Missense_Mutation SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 45170049 45170049 G T SNP SIX3 ENST00000260653 human ensembl 74_37 +1 known missense c.806 p.R269M 1.000 superfamily_Homeodomain-like pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors SIX3 HGNC ENSG00000138083 34 0 0 18 16 47.0588 PRKCE 0 genome.wustl.edu 37 2 46228616 46228616 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 46228616 46228616 C T SNP PRKCE ENST00000306156 human ensembl 74_37 +1 known silent c.897 p.I299 0.828 pirsf_Prot_kin_PKC_delta pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_C2_dom,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd - no_errors PRKCE HGNC ENSG00000171132 84 0 0 71 7 8.97436 MSH2 0 genome.wustl.edu 37 2 47641558 47641558 + Splice_Site SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 47641558 47641558 G T SNP MSH2 ENST00000233146 human ensembl 74_37 +1 known splice_site c.942+1 e5+1 1.000 - - - no_errors MSH2 HGNC ENSG00000095002 17 0 0 0 14 100 NRXN1 0 genome.wustl.edu 37 2 50779787 50779787 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 50779787 50779787 A G SNP NRXN1 ENST00000402717 human ensembl 74_37 -1 known missense c.1673 p.L558P 0.939 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN1 HGNC ENSG00000179915 150 0 0 66 15 18.5185 CHAC2 0 genome.wustl.edu 37 2 53999066 53999066 + Missense_Mutation SNP T T G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 53999066 53999066 T G SNP CHAC2 ENST00000295304 human ensembl 74_37 +1 known missense c.158 p.V53G 1.000 pfam_ChaC pfam_ChaC - no_errors CHAC2 HGNC ENSG00000143942 118 0 0 38 32 45.7143 CHAC2 0 genome.wustl.edu 37 2 53999076 53999076 + Silent SNP T T A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 53999076 53999076 T A SNP CHAC2 ENST00000295304 human ensembl 74_37 +1 known silent c.168 p.P56 1.000 pfam_ChaC pfam_ChaC - no_errors CHAC2 HGNC ENSG00000143942 112 0 0 37 28 43.0769 ERLEC1 0 genome.wustl.edu 37 2 54041678 54041678 + Splice_Site SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 54041678 54041678 A G SNP ERLEC1 ENST00000185150 human ensembl 74_37 +1 known splice_site c.1227-2 e12-2 1.000 - - - no_errors ERLEC1 HGNC ENSG00000068912 34 0 0 21 4 16 SPTBN1 0 genome.wustl.edu 37 2 54853120 54853120 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 54853120 54853120 G A SNP SPTBN1 ENST00000356805 human ensembl 74_37 +1 known missense c.1393 p.E465K 1.000 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN1 HGNC ENSG00000115306 80 0 0 50 28 35.8974 SPTBN1 0 genome.wustl.edu 37 2 54858335 54858335 + Missense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 54858335 54858335 C A SNP SPTBN1 ENST00000356805 human ensembl 74_37 +1 known missense c.3151 p.L1051M 1.000 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN1 HGNC ENSG00000115306 123 0 0 65 38 36.8932 SPTBN1 0 genome.wustl.edu 37 2 54870189 54870189 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 54870189 54870189 C T SNP SPTBN1 ENST00000356805 human ensembl 74_37 +1 known missense c.3928 p.H1310Y 1.000 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN1 HGNC ENSG00000115306 105 0 0 49 34 40.9639 MTIF2 0 genome.wustl.edu 37 2 55476655 55476655 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 55476655 55476655 G A SNP MTIF2 ENST00000263629 human ensembl 74_37 -1 known missense c.857 p.A286V 1.000 pfam_EF_GTP-bd_dom,pfam_MIRO-like,pfam_GTP_binding_domain,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase,tigrfam_Small_GTP-bd_dom pfam_EF_GTP-bd_dom,pfam_TIF_IF2_dom3,pfam_Transl_elong_EFTu/EF1A_2,pfam_MIRO-like,pfam_GTP_binding_domain,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase,superfamily_TIF_IF2_dom3,superfamily_Transl_B-barrel,tigrfam_Small_GTP-bd_dom - no_errors MTIF2 HGNC ENSG00000085760 60 0 0 34 14 29.1667 SMEK2 0 genome.wustl.edu 37 2 55795445 55795445 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 55795445 55795445 C T SNP SMEK2 ENST00000272313 human ensembl 74_37 -1 known missense c.1565 p.R522H 1.000 superfamily_ARM-type_fold pfam_DUF625,superfamily_ARM-type_fold - no_errors SMEK2 HGNC ENSG00000138041 70 0 0 27 15 35.7143 BCL11A 0 genome.wustl.edu 37 2 60689070 60689070 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 60689070 60689070 G A SNP BCL11A ENST00000335712 human ensembl 74_37 -1 known missense c.977 p.T326M 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BCL11A HGNC ENSG00000119866 163 0 0 79 56 41.4815 PAPOLG 0 genome.wustl.edu 37 2 60995614 60995614 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 60995614 60995614 C T SNP PAPOLG ENST00000238714 human ensembl 74_37 +1 known missense c.256 p.P86S 1.000 pfam_PolA_pol_cen_dom,pirsf_PolyA_polymerase pfam_PolA_pol_cen_dom,pfam_PolA_pol_RNA-bd_dom,pfam_Nucleotidyltransferase,superfamily_NuclTrfase_I_C,pirsf_PolyA_polymerase - no_errors PAPOLG HGNC ENSG00000115421 84 0 0 43 20 31.746 PAPOLG 0 genome.wustl.edu 37 2 61021224 61021224 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 61021224 61021224 G A SNP PAPOLG ENST00000238714 human ensembl 74_37 +1 known silent c.1887 p.P629 0.948 pirsf_PolyA_polymerase pfam_PolA_pol_cen_dom,pfam_PolA_pol_RNA-bd_dom,pfam_Nucleotidyltransferase,superfamily_NuclTrfase_I_C,pirsf_PolyA_polymerase - no_errors PAPOLG HGNC ENSG00000115421 87 0 0 45 34 43.038 USP34 0 genome.wustl.edu 37 2 61522168 61522168 + Splice_Site SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 61522168 61522168 C A SNP USP34 ENST00000398571 human ensembl 74_37 -1 known splice_site c.4378-1 e32-1 1.000 - - - no_errors USP34 HGNC ENSG00000115464 71 0 0 29 21 42 EHBP1 0 genome.wustl.edu 37 2 63092086 63092086 + Silent SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 63092086 63092086 T C SNP EHBP1 ENST00000263991 human ensembl 74_37 +1 known silent c.1083 p.T361 0.990 NULL pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors EHBP1 HGNC ENSG00000115504 94 0 0 35 36 50.7042 ENSG00000273398 0 genome.wustl.edu 37 2 68385008 68385008 + Missense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 68385008 68385008 C A SNP ENSG00000273398 ENST00000406334 human ensembl 74_37 -1 known missense c.682 p.A228S 0.000 NULL pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors RP11-474G23.1 Clone_based_vega_gene ENSG00000273398 25 0 0 13 12 48 GFPT1 0 genome.wustl.edu 37 2 69581630 69581630 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 69581630 69581630 A G SNP GFPT1 ENST00000357308 human ensembl 74_37 -1 known missense c.676 p.Y226H 1.000 NULL pfam_SIS,pfam_GATase_dom,tigrfam_GlmS_trans - no_errors GFPT1 HGNC ENSG00000198380 101 0 0 55 10 15.3846 MXD1 0 genome.wustl.edu 37 2 70143292 70143292 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 70143292 70143292 A G SNP MXD1 ENST00000264444 human ensembl 74_37 +1 known missense c.113 p.N38S 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MXD1 HGNC ENSG00000059728 40 0 0 15 11 42.3077 CYP26B1 0 genome.wustl.edu 37 2 72371142 72371142 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 72371142 72371142 G A SNP CYP26B1 ENST00000001146 human ensembl 74_37 -1 known silent c.405 p.G135 1.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_B,prints_Cyt_P450 - no_errors CYP26B1 HGNC ENSG00000003137 67 0 0 44 25 36.2319 FBXO41 0 genome.wustl.edu 37 2 73491645 73491645 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 73491645 73491645 G A SNP FBXO41 ENST00000295133 human ensembl 74_37 -1 known missense c.1750 p.R584C 1.000 NULL superfamily_F-box_dom - no_errors FBXO41 HGNC ENSG00000163013 51 0 0 36 15 29.4118 C2orf78 0 genome.wustl.edu 37 2 74042616 74042616 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 74042616 74042616 C T SNP C2orf78 ENST00000409561 human ensembl 74_37 +1 novel silent c.1266 p.S422 0.000 NULL NULL - no_errors C2orf78 HGNC ENSG00000187833 54 0 0 22 10 31.25 KCMF1 0 genome.wustl.edu 37 2 85276646 85276646 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 85276646 85276646 C T SNP KCMF1 ENST00000409785 human ensembl 74_37 +1 known silent c.759 p.N253 1.000 pfam_Di19_Zn_binding pfam_Znf_ZZ,pfam_Di19_Zn_binding,smart_Znf_ZZ,smart_Znf_C2H2-like,pfscan_Znf_ZZ,pfscan_Znf_C2H2 - no_errors KCMF1 HGNC ENSG00000176407 62 0 0 41 22 34.9206 RETSAT 0 genome.wustl.edu 37 2 85578126 85578126 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 85578126 85578126 C T SNP RETSAT ENST00000295802 human ensembl 74_37 -1 known missense c.374 p.R125H 0.002 pfam_Amino_oxidase,pfam_FAD-dep_OxRdtase pfam_Amino_oxidase,pfam_FAD_bind_dom,pfam_FAD-dep_OxRdtase,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_mOase_FAD-bd - no_errors RETSAT HGNC ENSG00000042445 85 0 0 42 22 34.375 C2orf68 0 genome.wustl.edu 37 2 85838877 85838877 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 85838877 85838877 G A SNP C2orf68 ENST00000306336 human ensembl 74_37 -1 known missense c.140 p.A47V 1.000 pfam_UPF0561 pfam_UPF0561 - no_errors C2orf68 HGNC ENSG00000168887 20 0 0 23 16 41.0256 IMMT 0 genome.wustl.edu 37 2 86371633 86371633 + Nonsense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 86371633 86371633 C A SNP IMMT ENST00000410111 human ensembl 74_37 -1 known nonsense c.2035 p.E679* 0.903 pfam_Mt-IM_prot_Mitofilin pfam_Mt-IM_prot_Mitofilin - no_errors IMMT HGNC ENSG00000132305 93 0 0 58 18 23.6842 IMMT 0 genome.wustl.edu 37 2 86378493 86378493 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 86378493 86378493 C T SNP IMMT ENST00000410111 human ensembl 74_37 -1 known missense c.1328 p.R443Q 1.000 pfam_Mt-IM_prot_Mitofilin pfam_Mt-IM_prot_Mitofilin - no_errors IMMT HGNC ENSG00000132305 68 0 0 41 3 6.81818 KDM3A 0 genome.wustl.edu 37 2 86716503 86716503 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 86716503 86716503 G A SNP KDM3A ENST00000312912 human ensembl 74_37 +1 known missense c.3376 p.A1126T 1.000 smart_JmjC_dom,pfscan_JmjC_dom pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM3A HGNC ENSG00000115548 82 0 0 44 13 22.807 KIDINS220 0 genome.wustl.edu 37 2 8943209 8943209 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 8943209 8943209 A G SNP KIDINS220 ENST00000256707 human ensembl 74_37 -1 known missense c.652 p.S218P 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_KAP_NTPase,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KIDINS220 HGNC ENSG00000134313 40 0 0 15 11 42.3077 ASAP2 0 genome.wustl.edu 37 2 9437478 9437478 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 9437478 9437478 C T SNP ASAP2 ENST00000281419 human ensembl 74_37 +1 known silent c.249 p.G83 0.110 NULL pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_ArfGAP,prints_ArfGAP - no_errors ASAP2 HGNC ENSG00000151693 67 0 0 34 14 29.1667 TEKT4 0 genome.wustl.edu 37 2 95541445 95541445 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 95541445 95541445 A G SNP TEKT4 ENST00000295201 human ensembl 74_37 +1 known missense c.1049 p.H350R 1.000 pfam_Tektin,prints_Tektin pfam_Tektin,prints_Tektin - no_errors TEKT4 HGNC ENSG00000163060 70 0 0 32 26 44.8276 PROM2 0 genome.wustl.edu 37 2 95950790 95950790 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 95950790 95950790 C T SNP PROM2 ENST00000317620 human ensembl 74_37 +1 known missense c.1802 p.A601V 0.003 pfam_Prominin pfam_Prominin - no_errors PROM2 HGNC ENSG00000155066 16 0 0 6 4 40 FAHD2A 0 genome.wustl.edu 37 2 96072864 96072864 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 96072864 96072864 G A SNP FAHD2A ENST00000233379 human ensembl 74_37 +1 known missense c.421 p.V141M 1.000 pfam_Fumarylacetoacetase_C,superfamily_Fumarylacetoacetase_C-rel pfam_Fumarylacetoacetase_C,superfamily_Fumarylacetoacetase_C-rel - no_errors FAHD2A HGNC ENSG00000115042 126 0 0 122 11 8.27068 FAHD2CP 0 genome.wustl.edu 37 2 96681032 96681032 + RNA SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 96681032 96681032 G A SNP FAHD2CP ENST00000607780 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors FAHD2CP HGNC ENSG00000231584 35 0 0 12 14 53.8462 ASTL 0 genome.wustl.edu 37 2 96795819 96795819 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 96795819 96795819 C T SNP ASTL ENST00000342380 human ensembl 74_37 -1 known missense c.703 p.V235M 0.498 pfam_Peptidase_M12A,prints_Peptidase_M12A pfam_Peptidase_M12A,smart_Peptidase_Metallo,prints_Peptidase_M12A - no_errors ASTL HGNC ENSG00000188886 87 0 0 44 29 39.726 DUSP2 0 genome.wustl.edu 37 2 96809592 96809592 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 96809592 96809592 C T SNP DUSP2 ENST00000288943 human ensembl 74_37 -1 known silent c.915 p.L305 1.000 pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pirsf_MKP,pfscan_Dual-sp_phosphatase_subgr_cat pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pirsf_MKP,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP - no_errors DUSP2 HGNC ENSG00000158050 55 0 0 25 14 35.8974 LOC285033 0 genome.wustl.edu 37 2 96906238 96906238 + RNA SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 96906238 96906238 G T SNP LOC285033 ENST00000446816 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors AC012307.3 Clone_based_vega_gene ENSG00000204685 103 0 0 33 32 49.2308 LOC285033 0 genome.wustl.edu 37 2 96906418 96906418 + RNA SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 96906418 96906418 C A SNP LOC285033 ENST00000446816 human ensembl 74_37 +1 known rna NULL NULL 0.010 - - - no_errors AC012307.3 Clone_based_vega_gene ENSG00000204685 57 0 0 31 16 34.0426 NEURL3 0 genome.wustl.edu 37 2 97165144 97165144 + RNA SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 97165144 97165144 A G SNP NEURL3 ENST00000310865 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors NEURL3 HGNC ENSG00000163121 65 0 0 30 26 46.4286 KANSL3 0 genome.wustl.edu 37 2 97274639 97274639 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 97274639 97274639 G A SNP KANSL3 ENST00000431828 human ensembl 74_37 -1 known missense c.1546 p.P516S 0.983 NULL NULL - no_errors KANSL3 HGNC ENSG00000114982 9 0 0 8 4 33.3333 SEMA4C 0 genome.wustl.edu 37 2 97527106 97527106 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 97527106 97527106 G A SNP SEMA4C ENST00000305476 human ensembl 74_37 -1 known missense c.1759 p.R587C 0.840 smart_Ig_sub,pfscan_Ig-like_dom pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA4C HGNC ENSG00000168758 48 0 0 46 4 8 ACTR1B 0 genome.wustl.edu 37 2 98275411 98275411 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 98275411 98275411 G A SNP ACTR1B ENST00000289228 human ensembl 74_37 -1 known missense c.371 p.A124V 0.998 pfam_Actin-related,smart_Actin-related,prints_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTR1B HGNC ENSG00000115073 144 0 0 139 17 10.8974 TMEM131 0 genome.wustl.edu 37 2 98430732 98430732 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 98430732 98430732 A G SNP TMEM131 ENST00000186436 human ensembl 74_37 -1 known missense c.1412 p.V471A 1.000 NULL pfam_DUF3651_TMEM131 - no_errors TMEM131 HGNC ENSG00000075568 77 0 0 34 24 41.3793 KIAA1211L 0 genome.wustl.edu 37 2 99413865 99413865 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 99413865 99413865 C T SNP KIAA1211L ENST00000397899 human ensembl 74_37 -1 known missense c.2552 p.R851Q 0.000 NULL NULL - no_errors KIAA1211L HGNC ENSG00000196872 133 1 0.746269 74 38 33.9286 JAG1 0 genome.wustl.edu 37 20 10620392 10620392 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 20 10620392 10620392 C T SNP JAG1 ENST00000254958 human ensembl 74_37 -1 known silent c.3411 p.K1137 1.000 NULL pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,smart_DSL,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_VWC_out,smart_VWF_C,pfscan_DSL,pfscan_EG-like_dom - no_errors JAG1 HGNC ENSG00000101384 97 0 0 41 38 48.1013 PSMF1 0 genome.wustl.edu 37 20 1143792 1143792 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 20 1143792 1143792 G A SNP PSMF1 ENST00000333082 human ensembl 74_37 +1 known silent c.570 p.P190 0.003 NULL pfam_FP_dom,pfam_PI31_Prot_Reg - no_errors PSMF1 HGNC ENSG00000125818 30 0 0 30 17 36.1702 ISM1 0 genome.wustl.edu 37 20 13251371 13251371 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 20 13251371 13251371 G A SNP ISM1 ENST00000262487 human ensembl 74_37 +1 known missense c.359 p.G120E 1.000 NULL pfam_AMOP,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_AMOP,pfscan_AMOP,pfscan_Thrombospondin_1_rpt - no_errors ISM1 HGNC ENSG00000101230 39 0 0 20 8 28.5714 ISM1 0 genome.wustl.edu 37 20 13279875 13279875 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 20 13279875 13279875 C T SNP ISM1 ENST00000262487 human ensembl 74_37 +1 known silent c.1164 p.G388 0.447 pfam_AMOP,smart_AMOP,pfscan_AMOP pfam_AMOP,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_AMOP,pfscan_AMOP,pfscan_Thrombospondin_1_rpt - no_errors ISM1 HGNC ENSG00000101230 24 0 0 12 8 40 TASP1 0 genome.wustl.edu 37 20 13398144 13398144 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 20 13398144 13398144 G A SNP TASP1 ENST00000337743 human ensembl 74_37 -1 known missense c.1121 p.T374M 0.995 NULL pfam_Peptidase_T2 - no_errors TASP1 HGNC ENSG00000089123 61 0 0 36 14 28 SEL1L2 0 genome.wustl.edu 37 20 13894524 13894524 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 20 13894524 13894524 G A SNP SEL1L2 ENST00000284951 human ensembl 74_37 -1 known silent c.453 p.D151 0.999 pfam_Sel1-like,smart_Sel1-like pfam_Sel1-like,smart_Sel1-like - no_errors SEL1L2 HGNC ENSG00000101251 68 0 0 32 13 28.8889 FLRT3 0 genome.wustl.edu 37 20 14307035 14307035 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 20 14307035 14307035 G A SNP FLRT3 ENST00000341420 human ensembl 74_37 -1 known missense c.1118 p.T373I 1.000 NULL pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Fibronectin_type3 - no_errors FLRT3 HGNC ENSG00000125848 234 0 0 97 58 37.4194 FLRT3 0 genome.wustl.edu 37 20 14307226 14307226 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 20 14307226 14307226 G A SNP FLRT3 ENST00000341420 human ensembl 74_37 -1 known silent c.927 p.C309 0.998 smart_Cys-rich_flank_reg_C pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Fibronectin_type3 - no_errors FLRT3 HGNC ENSG00000125848 120 1 0.826446 34 34 50 KIF16B 0 genome.wustl.edu 37 20 16337073 16337073 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 20 16337073 16337073 C T SNP KIF16B ENST00000354981 human ensembl 74_37 -1 known missense c.3523 p.A1175T 1.000 superfamily_Phox pfam_Kinesin_motor_dom,pfam_Phox,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,superfamily_Phox,smart_Kinesin_motor_dom,smart_Phox,pfscan_Phox,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF16B HGNC ENSG00000089177 66 0 0 51 9 15 PCSK2 0 genome.wustl.edu 37 20 17417499 17417499 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 20 17417499 17417499 C T SNP PCSK2 ENST00000262545 human ensembl 74_37 +1 known silent c.856 p.L286 0.945 pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK2 HGNC ENSG00000125851 40 0 0 23 19 45.2381 CSRP2BP 0 genome.wustl.edu 37 20 18142882 18142882 + Silent SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 20 18142882 18142882 T C SNP CSRP2BP ENST00000435364 human ensembl 74_37 +1 known silent c.1101 p.H367 0.978 NULL pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom - no_errors CSRP2BP HGNC ENSG00000149474 329 0 0 211 20 8.65801 PDYN 0 genome.wustl.edu 37 20 1961192 1961192 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 20 1961192 1961192 T C SNP PDYN ENST00000217305 human ensembl 74_37 -1 known missense c.542 p.K181R 1.000 NULL pfam_Opioid_neupept,prints_Proenkphlin_B,prints_Opioid_neupept - no_errors PDYN HGNC ENSG00000101327 155 0 0 74 45 37.8151 CRNKL1 0 genome.wustl.edu 37 20 20029078 20029078 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 20 20029078 20029078 C T SNP CRNKL1 ENST00000377340 human ensembl 74_37 -1 known missense c.847 p.A283T 1.000 pfam_HAT,pfam_Suf,smart_HAT,pfscan_TPR-contain_dom pfam_HAT,pfam_Suf,smart_HAT,pfscan_TPR-contain_dom - no_errors CRNKL1 HGNC ENSG00000101343 47 0 0 28 17 37.7778 C20orf26 0 genome.wustl.edu 37 20 20258057 20258057 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 20 20258057 20258057 C T SNP C20orf26 ENST00000245957 human ensembl 74_37 +1 known silent c.2751 p.S917 0.001 NULL superfamily_Acyl_CoA_acyltransferase - no_errors C20orf26 HGNC ENSG00000089101 181 0 0 78 45 36.5854 TGM3 0 genome.wustl.edu 37 20 2290970 2290970 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 20 2290970 2290970 C T SNP TGM3 ENST00000381458 human ensembl 74_37 +1 known missense c.328 p.R110W 0.010 pfam_Transglutaminase_N,superfamily_Ig_E-set pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM3 HGNC ENSG00000125780 248 0 0 179 36 16.7442 SSTR4 0 genome.wustl.edu 37 20 23017249 23017249 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 20 23017249 23017249 C T SNP SSTR4 ENST00000255008 human ensembl 74_37 +1 known missense c.1129 p.R377C 0.008 prints_Somatstn_rcpt_4 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Somatstn_rcpt_4,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt,prints_Opioid_rcpt,prints_Neuropept_B/W_rcpt,prints_NPY_rcpt,prints_Somatstn_rcpt_1 - no_errors SSTR4 HGNC ENSG00000132671 102 0 0 64 39 37.8641 GZF1 0 genome.wustl.edu 37 20 23346375 23346375 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 20 23346375 23346375 C T SNP GZF1 ENST00000338121 human ensembl 74_37 +1 known missense c.1355 p.T452M 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors GZF1 HGNC ENSG00000125812 30 0 0 27 11 28.9474 GZF1 0 genome.wustl.edu 37 20 23350284 23350284 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 20 23350284 23350284 G A SNP GZF1 ENST00000338121 human ensembl 74_37 +1 known missense c.1691 p.R564H 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors GZF1 HGNC ENSG00000125812 170 0 0 77 32 29.3578 ACSS1 0 genome.wustl.edu 37 20 24988462 24988462 + Missense_Mutation SNP C C G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 20 24988462 24988462 C G SNP ACSS1 ENST00000323482 human ensembl 74_37 -1 known missense c.2006 p.S669T 0.000 tigrfam_Ac_CoA_lig pfam_AMP-dep_Synth/Lig,tigrfam_Ac_CoA_lig - no_errors ACSS1 HGNC ENSG00000154930 150 0 0 75 31 29.2453 NCOR1P1 0 genome.wustl.edu 37 20 26084106 26084106 + RNA SNP A A T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 20 26084106 26084106 A T SNP NCOR1P1 ENST00000478176 human ensembl 74_37 -1 known rna NULL NULL 0.036 - - - no_errors NCOR1P1 HGNC ENSG00000240108 31 0 0 16 4 20 IDH3B 0 genome.wustl.edu 37 20 2639086 2639086 + RNA SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 20 2639086 2639086 G A SNP IDH3B ENST00000466494 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors IDH3B HGNC ENSG00000101365 42 0 0 15 12 44.4444 GNRH2 0 genome.wustl.edu 37 20 3025350 3025350 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 20 3025350 3025350 C T SNP GNRH2 ENST00000245983 human ensembl 74_37 +1 known silent c.180 p.G60 0.002 NULL pfam_GnRH - no_errors GNRH2 HGNC ENSG00000125787 28 0 0 14 9 39.1304 TPX2 0 genome.wustl.edu 37 20 30359471 30359471 + Silent SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 20 30359471 30359471 T C SNP TPX2 ENST00000340513 human ensembl 74_37 +1 known silent c.594 p.C198 0.014 NULL pfam_TPX2_central_dom,pfam_Aurora-A-bd,pfam_TPX2_dom_C - no_errors TPX2 HGNC ENSG00000088325 87 0 0 32 14 30.4348 TM9SF4 0 genome.wustl.edu 37 20 30723902 30723902 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 20 30723902 30723902 C T SNP TM9SF4 ENST00000398022 human ensembl 74_37 +1 known missense c.155 p.T52I 1.000 NULL pfam_EMP70 - no_errors TM9SF4 HGNC ENSG00000101337 94 0 0 41 5 10.8696 POFUT1 0 genome.wustl.edu 37 20 30797988 30797988 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 20 30797988 30797988 T C SNP POFUT1 ENST00000375749 human ensembl 74_37 +1 known missense c.239 p.F80S 1.000 pfam_GDP-Fuc_O-FucTrfase pfam_GDP-Fuc_O-FucTrfase - no_errors POFUT1 HGNC ENSG00000101346 204 0 0 91 69 43.125 POFUT1 0 genome.wustl.edu 37 20 30803189 30803189 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 20 30803189 30803189 C T SNP POFUT1 ENST00000375749 human ensembl 74_37 +1 known missense c.364 p.R122W 1.000 pfam_GDP-Fuc_O-FucTrfase pfam_GDP-Fuc_O-FucTrfase - no_errors POFUT1 HGNC ENSG00000101346 160 0 0 71 40 36.036 ASXL1 0 genome.wustl.edu 37 20 31017153 31017153 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 20 31017153 31017153 A G SNP ASXL1 ENST00000375687 human ensembl 74_37 +1 known missense c.484 p.K162E 1.000 NULL NULL - no_errors ASXL1 HGNC ENSG00000171456 49 0 0 29 7 19.4444 DNMT3B 0 genome.wustl.edu 37 20 31380444 31380444 + Nonsense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 20 31380444 31380444 C T SNP DNMT3B ENST00000328111 human ensembl 74_37 +1 known nonsense c.934 p.R312* 0.992 NULL pfam_PWWP_dom,pfam_C5_MeTfrase,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,pfscan_PWWP_dom - no_errors DNMT3B HGNC ENSG00000088305 103 0 0 83 6 6.74157 DNMT3B 0 genome.wustl.edu 37 20 31387129 31387129 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 20 31387129 31387129 C T SNP DNMT3B ENST00000328111 human ensembl 74_37 +1 known missense c.1754 p.A585V 1.000 pfam_C5_MeTfrase pfam_PWWP_dom,pfam_C5_MeTfrase,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,pfscan_PWWP_dom - no_errors DNMT3B HGNC ENSG00000088305 20 0 0 12 9 42.8571 LZTS3 0 genome.wustl.edu 37 20 3146349 3146349 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 20 3146349 3146349 C T SNP LZTS3 ENST00000329152 human ensembl 74_37 -1 known missense c.1117 p.G373R 0.797 NULL NULL - no_errors LZTS3 Uniprot_gn ENSG00000088899 14 0 0 7 6 46.1538 SUN5 0 genome.wustl.edu 37 20 31572905 31572905 + Missense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 20 31572905 31572905 C A SNP SUN5 ENST00000356173 human ensembl 74_37 -1 known missense c.984 p.Q328H 1.000 pfam_Sad1_UNC_C,superfamily_Galactose-bd-like pfam_Sad1_UNC_C,superfamily_Galactose-bd-like - no_errors SUN5 HGNC ENSG00000167098 110 0 0 79 15 15.9574 SNTA1 0 genome.wustl.edu 37 20 31998031 31998031 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 20 31998031 31998031 C T SNP SNTA1 ENST00000217381 human ensembl 74_37 -1 known missense c.1147 p.V383M 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_PDZ,superfamily_PDZ,smart_Pleckstrin_homology,smart_PDZ,pfscan_PDZ,pfscan_Pleckstrin_homology - no_errors SNTA1 HGNC ENSG00000101400 41 0 0 28 4 12.5 SLC4A11 0 genome.wustl.edu 37 20 3209316 3209316 + Missense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 20 3209316 3209316 C A SNP SLC4A11 ENST00000380059 human ensembl 74_37 -1 known missense c.2359 p.G787C 0.991 pfam_HCO3_transpt_C pfam_HCO3_transpt_C,pfam_PTS_EIIA_type-2_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk - no_errors SLC4A11 HGNC ENSG00000088836 67 0 0 56 5 8.19672 C20orf194 0 genome.wustl.edu 37 20 3236681 3236681 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 20 3236681 3236681 T C SNP C20orf194 ENST00000252032 human ensembl 74_37 -1 known missense c.3232 p.K1078E 1.000 NULL NULL - no_errors C20orf194 HGNC ENSG00000088854 69 0 0 41 35 46.0526 C20orf194 0 genome.wustl.edu 37 20 3236756 3236756 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 20 3236756 3236756 C T SNP C20orf194 ENST00000252032 human ensembl 74_37 -1 known missense c.3157 p.V1053I 0.002 NULL NULL - no_errors C20orf194 HGNC ENSG00000088854 112 0 0 69 29 29.5918 TP53INP2 0 genome.wustl.edu 37 20 33297114 33297114 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 20 33297114 33297114 A G SNP TP53INP2 ENST00000374809 human ensembl 74_37 +1 known missense c.199 p.M67V 1.000 NULL NULL - no_errors TP53INP2 HGNC ENSG00000078804 33 0 0 24 10 29.4118 NCOA6 0 genome.wustl.edu 37 20 33342540 33342540 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 20 33342540 33342540 T C SNP NCOA6 ENST00000359003 human ensembl 74_37 -1 known missense c.1660 p.N554D 0.987 NULL NULL - no_errors NCOA6 HGNC ENSG00000198646 81 0 0 58 45 43.6893 ACSS2 0 genome.wustl.edu 37 20 33515171 33515171 + RNA SNP A A T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 20 33515171 33515171 A T SNP ACSS2 ENST00000476922 human ensembl 74_37 +1 known rna NULL NULL 0.730 - - - no_errors ACSS2 HGNC ENSG00000131069 31 0 0 14 11 44 PROCR 0 genome.wustl.edu 37 20 33763974 33763974 + Missense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 20 33763974 33763974 C A SNP PROCR ENST00000216968 human ensembl 74_37 +1 known missense c.326 p.P109H 0.999 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog - no_errors PROCR HGNC ENSG00000101000 141 0 0 80 56 41.1765 CPNE1 0 genome.wustl.edu 37 20 34220121 34220121 + Silent SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 20 34220121 34220121 T C SNP CPNE1 ENST00000317677 human ensembl 74_37 -1 known silent c.435 p.V145 0.793 superfamily_C2_dom,smart_C2_dom pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom - no_errors CPNE1 HGNC ENSG00000214078 89 0 0 54 15 21.7391 RBM12 0 genome.wustl.edu 37 20 34241114 34241114 + Nonsense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 20 34241114 34241114 C A SNP RBM12 ENST00000359646 human ensembl 74_37 -1 known nonsense c.2131 p.G711* 0.967 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM12 HGNC ENSG00000244462 117 0 0 59 22 27.1605 EPB41L1 0 genome.wustl.edu 37 20 34763505 34763505 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 20 34763505 34763505 G A SNP EPB41L1 ENST00000338074 human ensembl 74_37 +1 known silent c.210 p.E70 1.000 pirsf_Band_41_protein pfam_Band_4.1_C,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_SAB_dom,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pirsf_Band_41_protein,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors EPB41L1 HGNC ENSG00000088367 90 0 0 48 30 38.4615 SOGA1 0 genome.wustl.edu 37 20 35422787 35422787 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 20 35422787 35422787 G A SNP SOGA1 ENST00000237536 human ensembl 74_37 -1 known missense c.3698 p.P1233L 0.009 NULL pfam_SOGA - no_errors SOGA1 HGNC ENSG00000149639 36 0 0 39 5 11.3636 RPN2 0 genome.wustl.edu 37 20 35812696 35812696 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 20 35812696 35812696 C T SNP RPN2 ENST00000237530 human ensembl 74_37 +1 known missense c.127 p.R43C 0.961 pfam_Swp1 pfam_Swp1 - no_errors RPN2 HGNC ENSG00000118705 118 0 0 81 8 8.98876 SRC 0 genome.wustl.edu 37 20 36022272 36022272 + RNA SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 20 36022272 36022272 T C SNP SRC ENST00000489153 human ensembl 74_37 +1 putative rna NULL NULL 0.572 - - - no_errors SRC HGNC ENSG00000197122 30 0 0 14 12 46.1538 KIAA1755 0 genome.wustl.edu 37 20 36859622 36859622 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 20 36859622 36859622 T C SNP KIAA1755 ENST00000279024 human ensembl 74_37 -1 known missense c.1853 p.Y618C 1.000 superfamily_CRAL-TRIO_dom superfamily_CRAL-TRIO_dom - no_errors KIAA1755 HGNC ENSG00000149633 30 0 0 14 16 53.3333 RALGAPB 0 genome.wustl.edu 37 20 37150172 37150172 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 20 37150172 37150172 C T SNP RALGAPB ENST00000262879 human ensembl 74_37 +1 known missense c.1450 p.R484W 1.000 NULL superfamily_ARM-type_fold,pfscan_Rap_GAP_dom - no_errors RALGAPB HGNC ENSG00000170471 119 0 0 60 33 35.4839 RALGAPB 0 genome.wustl.edu 37 20 37175008 37175008 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 20 37175008 37175008 G A SNP RALGAPB ENST00000262879 human ensembl 74_37 +1 known missense c.2837 p.R946Q 1.000 NULL superfamily_ARM-type_fold,pfscan_Rap_GAP_dom - no_errors RALGAPB HGNC ENSG00000170471 124 0 0 50 20 28.5714 RALGAPB 0 genome.wustl.edu 37 20 37179730 37179730 + Missense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 20 37179730 37179730 C A SNP RALGAPB ENST00000262879 human ensembl 74_37 +1 known missense c.3026 p.P1009H 1.000 NULL superfamily_ARM-type_fold,pfscan_Rap_GAP_dom - no_errors RALGAPB HGNC ENSG00000170471 244 0 0 114 27 19.1489 SLC32A1 0 genome.wustl.edu 37 20 37353630 37353630 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 20 37353630 37353630 G A SNP SLC32A1 ENST00000217420 human ensembl 74_37 +1 known missense c.263 p.G88D 1.000 NULL pfam_AA_transpt_TM - no_errors SLC32A1 HGNC ENSG00000101438 77 0 0 58 22 27.5 DHX35 0 genome.wustl.edu 37 20 37601269 37601269 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 20 37601269 37601269 G A SNP DHX35 ENST00000252011 human ensembl 74_37 +1 known missense c.242 p.C81Y 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX35 HGNC ENSG00000101452 59 0 0 25 10 28.5714 MAVS 0 genome.wustl.edu 37 20 3843058 3843058 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 20 3843058 3843058 C T SNP MAVS ENST00000428216 human ensembl 74_37 +1 known missense c.623 p.A208V 0.334 NULL NULL - no_errors MAVS HGNC ENSG00000088888 57 0 0 48 21 30.4348 PLCG1 0 genome.wustl.edu 37 20 39791353 39791353 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 20 39791353 39791353 C T SNP PLCG1 ENST00000244007 human ensembl 74_37 +1 known silent c.669 p.S223 1.000 pirsf_PLC-gamma pfam_PLipase_C_PInositol-sp_X_dom,pfam_SH2,pfam_PLipase_C_Pinositol-sp_Y,pfam_Pleckstrin_homology,pfam_C2_dom,pfam_SH3_domain,pfam_SH3_2,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_SH2,smart_SH3_domain,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pirsf_PLC-gamma,pfscan_EF_hand_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C,prints_SH2 - no_errors PLCG1 HGNC ENSG00000124181 29 0 0 19 9 32.1429 CHD6 0 genome.wustl.edu 37 20 40113055 40113055 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 20 40113055 40113055 G A SNP CHD6 ENST00000373233 human ensembl 74_37 -1 known missense c.2194 p.P732S 1.000 pfam_SNF2_N,superfamily_P-loop_NTPase pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_BRK_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD6 HGNC ENSG00000124177 199 0 0 83 61 42.3611 PTPRT 0 genome.wustl.edu 37 20 40730915 40730915 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 20 40730915 40730915 C T SNP PTPRT ENST00000373198 human ensembl 74_37 -1 known missense c.3620 p.R1207H 0.823 smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRT HGNC ENSG00000196090 51 0 0 33 21 38.8889 RBCK1 0 genome.wustl.edu 37 20 409676 409676 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 20 409676 409676 C T SNP RBCK1 ENST00000356286 human ensembl 74_37 +1 known missense c.1390 p.R464C 1.000 pfam_Znf_C6HC pfam_Znf_C6HC,pfam_Znf_RanBP2,smart_Znf_RanBP2,smart_Znf_RING,pfscan_Znf_RanBP2,pfscan_Znf_RING,pfscan_Ubiquitin_supergroup - no_errors RBCK1 HGNC ENSG00000125826 62 0 0 37 11 22.9167 SMOX 0 genome.wustl.edu 37 20 4163382 4163382 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 20 4163382 4163382 G A SNP SMOX ENST00000305958 human ensembl 74_37 +1 known missense c.1256 p.R419H 1.000 pfam_Amino_oxidase pfam_Amino_oxidase,pfam_FAD-dep_OxRdtase,pfam_FAD_bind_dom - no_errors SMOX HGNC ENSG00000088826 74 0 0 42 29 40.8451 SMOX 0 genome.wustl.edu 37 20 4163473 4163473 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 20 4163473 4163473 G A SNP SMOX ENST00000305958 human ensembl 74_37 +1 known silent c.1347 p.T449 0.002 pfam_Amino_oxidase pfam_Amino_oxidase,pfam_FAD-dep_OxRdtase,pfam_FAD_bind_dom - no_errors SMOX HGNC ENSG00000088826 45 0 0 34 23 40.3509 L3MBTL1 0 genome.wustl.edu 37 20 42143746 42143746 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 20 42143746 42143746 G A SNP L3MBTL1 ENST00000418998 human ensembl 74_37 +1 known silent c.534 p.A178 0.000 NULL pfam_Mbt,pfam_Znf_C2HC,superfamily_SAM/pointed,smart_Mbt,pfscan_Mbt - no_errors L3MBTL1 HGNC ENSG00000185513 103 0 0 53 46 46.4646 MYBL2 0 genome.wustl.edu 37 20 42328423 42328423 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 20 42328423 42328423 C T SNP MYBL2 ENST00000217026 human ensembl 74_37 +1 known silent c.690 p.S230 0.000 NULL pfam_C-myb_C,pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors MYBL2 HGNC ENSG00000101057 61 0 0 33 11 25 JPH2 0 genome.wustl.edu 37 20 42744671 42744671 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 20 42744671 42744671 C T SNP JPH2 ENST00000372980 human ensembl 74_37 -1 known silent c.1644 p.L548 1.000 pirsf_Junctophilin pfam_MORN,smart_MORN,pirsf_Junctophilin - no_errors JPH2 HGNC ENSG00000149596 12 0 0 12 6 33.3333 JPH2 0 genome.wustl.edu 37 20 42788504 42788504 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 20 42788504 42788504 C T SNP JPH2 ENST00000372980 human ensembl 74_37 -1 known missense c.923 p.R308H 1.000 pfam_MORN,smart_MORN,pirsf_Junctophilin pfam_MORN,smart_MORN,pirsf_Junctophilin - no_errors JPH2 HGNC ENSG00000149596 40 0 0 26 13 33.3333 TTPAL 0 genome.wustl.edu 37 20 43109079 43109079 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 20 43109079 43109079 G A SNP TTPAL ENST00000262605 human ensembl 74_37 +1 known missense c.440 p.R147H 1.000 superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran - no_errors TTPAL HGNC ENSG00000124120 129 0 0 65 30 31.5789 PABPC1L 0 genome.wustl.edu 37 20 43545461 43545461 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 20 43545461 43545461 C T SNP PABPC1L ENST00000217073 human ensembl 74_37 +1 known missense c.452 p.A151V 1.000 pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234 pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234 - no_errors PABPC1L HGNC ENSG00000101104 156 1 0.636943 117 60 33.8983 SEMG1 0 genome.wustl.edu 37 20 43836348 43836348 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 20 43836348 43836348 G A SNP SEMG1 ENST00000372781 human ensembl 74_37 +1 known missense c.410 p.R137H 0.000 pfam_Semenogelin pfam_Semenogelin - no_errors SEMG1 HGNC ENSG00000124233 116 0 0 48 40 45.4545 SEMG1 0 genome.wustl.edu 37 20 43836680 43836680 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 20 43836680 43836680 C T SNP SEMG1 ENST00000372781 human ensembl 74_37 +1 known missense c.742 p.H248Y 0.000 pfam_Semenogelin pfam_Semenogelin - no_errors SEMG1 HGNC ENSG00000124233 153 0 0 103 6 5.50459 PIGT 0 genome.wustl.edu 37 20 44050193 44050193 + Missense_Mutation SNP A A C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 20 44050193 44050193 A C SNP PIGT ENST00000279036 human ensembl 74_37 +1 known missense c.1204 p.I402L 1.000 pfam_PIG-T pfam_PIG-T - no_errors PIGT HGNC ENSG00000124155 65 0 0 53 10 15.873 ZSWIM3 0 genome.wustl.edu 37 20 44505406 44505406 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 20 44505406 44505406 C T SNP ZSWIM3 ENST00000255152 human ensembl 74_37 +1 known missense c.209 p.T70M 0.013 NULL pfam_Znf_SWIM,pfam_MULE_transposase_dom,pfam_Transposase,smart_Znf_PMZ,pfscan_Znf_SWIM - no_errors ZSWIM3 HGNC ENSG00000132801 100 0 0 75 12 13.7931 SPATA25 0 genome.wustl.edu 37 20 44515671 44515671 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 20 44515671 44515671 C T SNP SPATA25 ENST00000372519 human ensembl 74_37 -1 known missense c.169 p.A57T 0.954 NULL NULL - no_errors SPATA25 HGNC ENSG00000149634 160 0 0 135 12 8.16327 PCIF1 0 genome.wustl.edu 37 20 44571745 44571745 + Missense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 20 44571745 44571745 C A SNP PCIF1 ENST00000372409 human ensembl 74_37 +1 known missense c.683 p.P228H 1.000 NULL pfam_PCIF1_WW,pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom - no_errors PCIF1 HGNC ENSG00000100982 42 0 0 19 10 34.4828 NCOA3 0 genome.wustl.edu 37 20 46268504 46268504 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 20 46268504 46268504 G A SNP NCOA3 ENST00000371998 human ensembl 74_37 +1 known missense c.2891 p.R964Q 1.000 pirsf_Nuclear_rcpt_coactivator pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_SRC-1,pfam_PAS_fold,superfamily_PAS,superfamily_Nuc_rcpt_coact,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_bHLH_dom - no_errors NCOA3 HGNC ENSG00000124151 142 0 0 59 48 44.8598 SULF2 0 genome.wustl.edu 37 20 46295174 46295174 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 20 46295174 46295174 G A SNP SULF2 ENST00000359930 human ensembl 74_37 -1 known silent c.1635 p.D545 0.316 pfam_Extracellular_sulfatase_C,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase pfam_Sulfatase,pfam_Extracellular_sulfatase_C,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase - no_errors SULF2 HGNC ENSG00000196562 128 0 0 115 19 14.1791 PREX1 0 genome.wustl.edu 37 20 47253165 47253165 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 20 47253165 47253165 C T SNP PREX1 ENST00000371941 human ensembl 74_37 -1 known missense c.4003 p.V1335M 0.870 NULL pfam_DH-domain,pfam_DEP_dom,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX1 HGNC ENSG00000124126 29 0 0 21 14 40 ARFGEF2 0 genome.wustl.edu 37 20 47601337 47601337 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 20 47601337 47601337 A G SNP ARFGEF2 ENST00000371917 human ensembl 74_37 +1 known missense c.2030 p.D677G 1.000 pfam_Sec7_dom,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom pfam_Sec7_dom,pfam_DUF1981_Sec7_assoc,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom - no_errors ARFGEF2 HGNC ENSG00000124198 166 0 0 94 70 42.6829 CSE1L 0 genome.wustl.edu 37 20 47688880 47688880 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 20 47688880 47688880 G A SNP CSE1L ENST00000262982 human ensembl 74_37 +1 known missense c.826 p.A276T 1.000 pfam_Cse1,superfamily_ARM-type_fold pfam_CAS_CSE1_C,pfam_Cse1,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors CSE1L HGNC ENSG00000124207 102 0 0 33 30 47.619 RASSF2 0 genome.wustl.edu 37 20 4773205 4773205 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 20 4773205 4773205 T C SNP RASSF2 ENST00000379376 human ensembl 74_37 -1 known missense c.356 p.D119G 0.015 NULL pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SARAH_dom - no_errors RASSF2 HGNC ENSG00000101265 37 0 0 34 8 19.0476 DDX27 0 genome.wustl.edu 37 20 47843072 47843072 + Missense_Mutation SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 20 47843072 47843072 G T SNP DDX27 ENST00000371764 human ensembl 74_37 +1 known missense c.799 p.G267C 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd 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 DDX27 HGNC ENSG00000124228 54 0 0 44 13 22.807 PARD6B 0 genome.wustl.edu 37 20 49366212 49366212 + Silent SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 20 49366212 49366212 T C SNP PARD6B ENST00000371610 human ensembl 74_37 +1 known silent c.306 p.S102 1.000 NULL pfam_OPR_PB1,pfam_PDZ,superfamily_PDZ,smart_OPR_PB1,smart_PDZ,pfscan_PDZ - no_errors PARD6B HGNC ENSG00000124171 51 0 0 34 12 26.087 ATP9A 0 genome.wustl.edu 37 20 50226683 50226683 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 20 50226683 50226683 A G SNP ATP9A ENST00000338821 human ensembl 74_37 -1 known missense c.2593 p.Y865H 1.000 tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP9A HGNC ENSG00000054793 52 0 0 31 23 42.5926 ZNF217 0 genome.wustl.edu 37 20 52199236 52199236 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 20 52199236 52199236 C T SNP ZNF217 ENST00000302342 human ensembl 74_37 -1 known missense c.130 p.A44T 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF217 HGNC ENSG00000171940 105 0 0 54 30 35.7143 CBLN4 0 genome.wustl.edu 37 20 54578981 54578981 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 20 54578981 54578981 G A SNP CBLN4 ENST00000064571 human ensembl 74_37 -1 known missense c.247 p.P83S 1.000 pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors CBLN4 HGNC ENSG00000054803 228 0 0 188 11 5.52764 MC3R 0 genome.wustl.edu 37 20 54824415 54824415 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 20 54824415 54824415 C T SNP MC3R ENST00000243911 human ensembl 74_37 +1 known silent c.516 p.C172 0.938 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Melcrt_ACTH_rcpt,prints_Mcort_3_rcpt,prints_GPCR_Rhodpsn,prints_Melancort_rcpt - no_errors MC3R HGNC ENSG00000124089 127 0 0 73 30 29.1262 AURKA 0 genome.wustl.edu 37 20 54961466 54961466 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 20 54961466 54961466 G A SNP AURKA ENST00000312783 human ensembl 74_37 -1 known missense c.166 p.R56C 0.994 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors AURKA HGNC ENSG00000087586 145 0 0 64 42 39.6226 FAM209B 0 genome.wustl.edu 37 20 55108475 55108475 + Missense_Mutation SNP A A T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 20 55108475 55108475 A T SNP FAM209B ENST00000371325 human ensembl 74_37 +1 known missense c.78 p.R26S 0.365 NULL NULL - no_errors FAM209B HGNC ENSG00000213714 181 1 0.549451 53 59 52.6786 BMP7 0 genome.wustl.edu 37 20 55777645 55777645 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 20 55777645 55777645 G A SNP BMP7 ENST00000395863 human ensembl 74_37 -1 known missense c.646 p.L216F 0.937 pfam_TGF-b_N pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C - no_errors BMP7 HGNC ENSG00000101144 67 0 0 39 12 23.5294 APCDD1L 0 genome.wustl.edu 37 20 57042284 57042284 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 20 57042284 57042284 G A SNP APCDD1L ENST00000439429 human ensembl 74_37 -1 known missense c.652 p.P218S 0.992 NULL NULL - no_errors APCDD1L HGNC ENSG00000198768 23 0 0 18 13 41.9355 GNAS 0 genome.wustl.edu 37 20 57415808 57415808 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 20 57415808 57415808 G A SNP GNAS ENST00000313949 human ensembl 74_37 +1 known missense c.647 p.R216Q 0.344 pfam_NESP55 pfam_NESP55 - no_errors GNAS HGNC ENSG00000087460 33 0 0 14 11 44 GNAS 0 genome.wustl.edu 37 20 57485417 57485417 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 20 57485417 57485417 C T SNP GNAS ENST00000354359 human ensembl 74_37 +1 known silent c.1002 p.R334 1.000 pfam_Gprotein_alpha_su,superfamily_P-loop_NTPase,smart_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_S,prints_Gprotein_alpha_su - no_errors GNAS HGNC ENSG00000087460 78 0 0 43 19 30.6452 PHACTR3 0 genome.wustl.edu 37 20 58348375 58348375 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 20 58348375 58348375 G A SNP PHACTR3 ENST00000371015 human ensembl 74_37 +1 known missense c.793 p.D265N 0.650 NULL pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat - no_errors PHACTR3 HGNC ENSG00000087495 119 0 0 77 55 41.6667 SYCP2 0 genome.wustl.edu 37 20 58443592 58443592 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 20 58443592 58443592 T C SNP SYCP2 ENST00000357552 human ensembl 74_37 -1 known missense c.3864 p.I1288M 0.133 NULL NULL - no_errors SYCP2 HGNC ENSG00000196074 67 0 0 24 28 53.8462 LRRN4 0 genome.wustl.edu 37 20 6021784 6021784 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 20 6021784 6021784 C T SNP LRRN4 ENST00000378858 human ensembl 74_37 -1 known missense c.2107 p.A703T 0.000 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors LRRN4 HGNC ENSG00000125872 39 0 0 12 6 33.3333 CDH4 0 genome.wustl.edu 37 20 60485514 60485514 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 20 60485514 60485514 G A SNP CDH4 ENST00000360469 human ensembl 74_37 +1 known missense c.1225 p.V409M 0.967 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin - no_errors CDH4 HGNC ENSG00000179242 48 0 0 54 7 11.4754 HRH3 0 genome.wustl.edu 37 20 60791601 60791601 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 20 60791601 60791601 C T SNP HRH3 ENST00000317393 human ensembl 74_37 -1 known missense c.799 p.G267R 0.620 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Histamine_H3_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Histamine_H3_rcpt,prints_GPCR_Rhodpsn,prints_Musac_Ach_rcpt - no_errors HRH3 HGNC ENSG00000101180 15 0 0 13 6 31.5789 LAMA5 0 genome.wustl.edu 37 20 60902981 60902981 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 20 60902981 60902981 G A SNP LAMA5 ENST00000252999 human ensembl 74_37 -1 known missense c.4738 p.H1580Y 0.998 pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors LAMA5 HGNC ENSG00000130702 74 0 0 55 30 35.2941 GATA5 0 genome.wustl.edu 37 20 61048529 61048529 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 20 61048529 61048529 C T SNP GATA5 ENST00000252997 human ensembl 74_37 -1 known missense c.629 p.C210Y 1.000 pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA_4/5/6,pfscan_Znf_GATA,prints_Znf_GATA pfam_GATA_N,pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA_4/5/6,pfscan_Znf_GATA,prints_Znf_GATA - no_errors GATA5 HGNC ENSG00000130700 14 0 0 15 6 28.5714 SLCO4A1 0 genome.wustl.edu 37 20 61288032 61288032 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 20 61288032 61288032 C T SNP SLCO4A1 ENST00000217159 human ensembl 74_37 +1 known missense c.226 p.R76W 0.000 NULL pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO4A1 HGNC ENSG00000101187 19 0 0 16 9 36 MIR124-3 0 genome.wustl.edu 37 20 61809880 61809880 + RNA SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 20 61809880 61809880 A G SNP MIR124-3 ENST00000384866 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors MIR124-3 HGNC ENSG00000207598 31 0 0 20 5 20 COL20A1 0 genome.wustl.edu 37 20 61945176 61945176 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 20 61945176 61945176 C T SNP COL20A1 ENST00000326996 human ensembl 74_37 +1 known missense c.2291 p.P764L 0.993 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL20A1 HGNC ENSG00000101203 26 0 0 30 6 16.6667 HELZ2 0 genome.wustl.edu 37 20 62196274 62196274 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 20 62196274 62196274 C T SNP HELZ2 ENST00000467148 human ensembl 74_37 -1 known missense c.3901 p.G1301S 0.207 NULL superfamily_P-loop_NTPase - no_errors HELZ2 HGNC ENSG00000130589 57 0 0 53 6 10.1695 GMEB2 0 genome.wustl.edu 37 20 62221652 62221652 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 20 62221652 62221652 G A SNP GMEB2 ENST00000266068 human ensembl 74_37 -1 known silent c.1383 p.A461 0.997 NULL pfam_SAND_dom,superfamily_SAND_dom-like,superfamily_Sig_transdc_His_kin_Hpt_dom,smart_SAND_dom,pfscan_SAND_dom - no_errors GMEB2 HGNC ENSG00000101216 43 0 0 21 24 53.3333 RTEL1 0 genome.wustl.edu 37 20 62328129 62328129 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 20 62328129 62328129 G A SNP RTEL1 ENST00000318100 human ensembl 74_37 +1 known missense c.3916 p.A1306T 0.000 NULL pfam_DEAD_2,superfamily_P-loop_NTPase,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 - no_errors RTEL1 HGNC ENSG00000258366 17 0 0 12 10 45.4545 ABHD16B 0 genome.wustl.edu 37 20 62493364 62493364 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 20 62493364 62493364 C T SNP ABHD16B ENST00000369916 human ensembl 74_37 +1 known silent c.471 p.F157 1.000 NULL pfam_AB_hydrolase_1 - no_errors ABHD16B HGNC ENSG00000183260 37 0 0 37 16 30.1887 UCKL1 0 genome.wustl.edu 37 20 62575950 62575950 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 20 62575950 62575950 G A SNP UCKL1 ENST00000354216 human ensembl 74_37 -1 known silent c.792 p.F264 0.065 pfam_PRK/URK,superfamily_P-loop_NTPase,tigrfam_Uridine_kinase pfam_PRK/URK,pfam_CPT,superfamily_P-loop_NTPase,prints_Uridine_kinase,prints_PRK,tigrfam_Uridine_kinase - no_errors UCKL1 HGNC ENSG00000198276 19 0 0 17 12 41.3793 TCEA2 0 genome.wustl.edu 37 20 62701180 62701180 + Missense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 20 62701180 62701180 C A SNP TCEA2 ENST00000395053 human ensembl 74_37 +1 known missense c.523 p.L175I 1.000 pirsf_TF_IIS-rel pfam_TFIIS_N,pfam_TFIIS_cen_dom,superfamily_TFIIS_N,superfamily_TFIIS_cen_dom,smart_TFIIS/CRSP70_N_sub,pirsf_TF_IIS-rel - no_errors TCEA2 HGNC ENSG00000171703 66 0 0 77 7 8.33333 NPBWR2 0 genome.wustl.edu 37 20 62737941 62737941 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 20 62737941 62737941 C T SNP NPBWR2 ENST00000369768 human ensembl 74_37 -1 known missense c.244 p.V82M 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Opioid_rcpt,prints_NPY_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Neuropept_B/W_rcpt,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt,prints_Opioid_rcpt,prints_NPY_rcpt - no_errors NPBWR2 HGNC ENSG00000125522 53 0 0 39 4 9.30233 PAK7 0 genome.wustl.edu 37 20 9546626 9546626 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 20 9546626 9546626 C T SNP PAK7 ENST00000353224 human ensembl 74_37 -1 known missense c.1396 p.A466T 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_CRIB_dom,superfamily_Kinase-like_dom,smart_CRIB_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRIB_dom,pfscan_Prot_kinase_dom - no_errors PAK7 HGNC ENSG00000101349 197 0 0 83 48 36.6412 NRIP1 0 genome.wustl.edu 37 21 16339964 16339964 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 21 16339964 16339964 G A SNP NRIP1 ENST00000318948 human ensembl 74_37 -1 known missense c.550 p.H184Y 1.000 NULL NULL - no_errors NRIP1 HGNC ENSG00000180530 83 0 0 26 16 38.0952 ADAMTS1 0 genome.wustl.edu 37 21 28217144 28217144 + Missense_Mutation SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 21 28217144 28217144 G T SNP ADAMTS1 ENST00000284984 human ensembl 74_37 -1 known missense c.130 p.L44M 0.699 NULL pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS1,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS1 HGNC ENSG00000154734 11 0 0 5 4 44.4444 KRTAP19-2 0 genome.wustl.edu 37 21 31859629 31859629 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 21 31859629 31859629 G A SNP KRTAP19-2 ENST00000334055 human ensembl 74_37 -1 known silent c.39 p.C13 0.038 pfam_KRTAP_type6/8/16/19/20 pfam_KRTAP_type6/8/16/19/20 - no_errors KRTAP19-2 HGNC ENSG00000186965 261 0 0 237 62 20.7358 TIAM1 0 genome.wustl.edu 37 21 32526612 32526612 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 21 32526612 32526612 G A SNP TIAM1 ENST00000286827 human ensembl 74_37 -1 known missense c.3124 p.R1042C 1.000 superfamily_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Raf-like_ras-bd,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain - no_errors TIAM1 HGNC ENSG00000156299 101 0 0 38 33 46.4789 SCAF4 0 genome.wustl.edu 37 21 33068890 33068890 + Missense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 21 33068890 33068890 C A SNP SCAF4 ENST00000286835 human ensembl 74_37 -1 known missense c.951 p.Q317H 0.998 NULL pfam_RNA_pol_II-bd,pfam_RRM_dom,superfamily_ENTH_VHS,smart_CID_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SCAF4 HGNC ENSG00000156304 50 0 0 17 12 41.3793 C21orf59 0 genome.wustl.edu 37 21 33984413 33984413 + Splice_Site SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 21 33984413 33984413 A G SNP C21orf59 ENST00000290155 human ensembl 74_37 -1 known splice_site c.139+2 e1+2 1.000 - - - no_errors C21orf59 HGNC ENSG00000159079 8 0 0 1 6 85.7143 ITSN1 0 genome.wustl.edu 37 21 35195847 35195847 + Nonsense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 21 35195847 35195847 C T SNP ITSN1 ENST00000381285 human ensembl 74_37 +1 known nonsense c.3073 p.Q1025* 1.000 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_p67phox pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_dom,superfamily_DH-domain,superfamily_C2_dom,superfamily_SH3_domain,superfamily_P-loop_NTPase,smart_EPS15_homology,smart_EF_hand_dom,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_dom,pfscan_EF_hand_dom,pfscan_EPS15_homology,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_p67phox - no_errors ITSN1 HGNC ENSG00000205726 127 0 0 47 34 41.9753 SETD4 0 genome.wustl.edu 37 21 37417937 37417937 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 21 37417937 37417937 C T SNP SETD4 ENST00000332131 human ensembl 74_37 -1 known silent c.669 p.P223 0.314 pfam_SET_dom,pirsf_Lys_MTase_YDR198C_prd pfam_Rubisco_LSMT_subst-bd,pfam_SET_dom,pirsf_Lys_MTase_YDR198C_prd - no_errors SETD4 HGNC ENSG00000185917 87 0 0 40 29 42.029 DOPEY2 0 genome.wustl.edu 37 21 37623582 37623582 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 21 37623582 37623582 G A SNP DOPEY2 ENST00000399151 human ensembl 74_37 +1 known silent c.5121 p.K1707 1.000 NULL pfam_Dopey_N - no_errors DOPEY2 HGNC ENSG00000142197 63 0 0 42 19 31.1475 MORC3 0 genome.wustl.edu 37 21 37728931 37728931 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 21 37728931 37728931 G A SNP MORC3 ENST00000400485 human ensembl 74_37 +1 known missense c.1117 p.A373T 1.000 NULL pfam_Znf_CW,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,pfscan_Znf_CW - no_errors MORC3 HGNC ENSG00000159256 84 0 0 27 8 22.8571 MORC3 0 genome.wustl.edu 37 21 37732303 37732303 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 21 37732303 37732303 G A SNP MORC3 ENST00000400485 human ensembl 74_37 +1 known missense c.1259 p.R420Q 1.000 pfam_Znf_CW,pfscan_Znf_CW pfam_Znf_CW,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,pfscan_Znf_CW - no_errors MORC3 HGNC ENSG00000159256 199 0 0 75 29 27.8846 DSCR3 0 genome.wustl.edu 37 21 38610871 38610871 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 21 38610871 38610871 G A SNP DSCR3 ENST00000309117 human ensembl 74_37 -1 known missense c.241 p.P81S 1.000 pfam_VPS26,pfam_Arrestin-like_N,superfamily_Ig_E-set pfam_VPS26,pfam_Arrestin-like_N,superfamily_Ig_E-set - no_errors DSCR3 HGNC ENSG00000157538 142 0 0 78 43 35.5372 KCNJ6 0 genome.wustl.edu 37 21 39086717 39086717 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 21 39086717 39086717 G A SNP KCNJ6 ENST00000288309 human ensembl 74_37 -1 known missense c.743 p.S248L 0.993 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir3.2 - no_errors KCNJ6 HGNC ENSG00000157542 108 0 0 62 36 36.7347 KCNJ6 0 genome.wustl.edu 37 21 39087187 39087187 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 21 39087187 39087187 G A SNP KCNJ6 ENST00000288309 human ensembl 74_37 -1 known silent c.273 p.F91 1.000 pfam_K_chnl_inward-rec_Kir,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir3.2 - no_errors KCNJ6 HGNC ENSG00000157542 156 0 0 80 54 40.2985 WRB 0 genome.wustl.edu 37 21 40769016 40769016 + RNA SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 21 40769016 40769016 A G SNP WRB ENST00000466787 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors WRB HGNC ENSG00000182093 8 0 0 3 3 50 DSCAM 0 genome.wustl.edu 37 21 41416137 41416137 + Missense_Mutation SNP T T A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 21 41416137 41416137 T A SNP DSCAM ENST00000400454 human ensembl 74_37 -1 known missense c.5251 p.T1751S 1.000 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DSCAM HGNC ENSG00000171587 73 0 0 60 30 33.3333 MX2 0 genome.wustl.edu 37 21 42780117 42780117 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 21 42780117 42780117 C T SNP MX2 ENST00000330714 human ensembl 74_37 +1 known missense c.2105 p.A702V 0.505 pfam_GED,superfamily_P-loop_NTPase,smart_GED pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,superfamily_P-loop_NTPase,superfamily_CH-domain,smart_Dynamin_GTPase,smart_GED,prints_Dynamin_SF - no_errors MX2 HGNC ENSG00000183486 97 0 0 63 17 21.25 PRDM15 0 genome.wustl.edu 37 21 43230570 43230570 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 21 43230570 43230570 G A SNP PRDM15 ENST00000269844 human ensembl 74_37 -1 known silent c.3690 p.C1230 0.999 smart_Znf_C2H2-like pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM15 HGNC ENSG00000141956 28 0 0 18 11 37.931 RSPH1 0 genome.wustl.edu 37 21 43897403 43897403 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 21 43897403 43897403 T C SNP RSPH1 ENST00000291536 human ensembl 74_37 -1 known missense c.725 p.E242G 0.116 NULL pfam_MORN,smart_MORN - no_errors RSPH1 HGNC ENSG00000160188 80 0 0 39 28 41.791 HSF2BP 0 genome.wustl.edu 37 21 45033778 45033778 + Missense_Mutation SNP C C G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 21 45033778 45033778 C G SNP HSF2BP ENST00000291560 human ensembl 74_37 -1 known missense c.625 p.V209L 0.993 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HSF2BP HGNC ENSG00000160207 85 0 0 35 22 38.5965 TRAPPC10 0 genome.wustl.edu 37 21 45499951 45499951 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 21 45499951 45499951 C T SNP TRAPPC10 ENST00000291574 human ensembl 74_37 +1 known missense c.1666 p.R556C 0.997 NULL NULL - no_errors TRAPPC10 HGNC ENSG00000160218 55 0 0 49 5 9.25926 TRPM2 0 genome.wustl.edu 37 21 45826499 45826499 + Missense_Mutation SNP T T G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 21 45826499 45826499 T G SNP TRPM2 ENST00000300482 human ensembl 74_37 +1 known missense c.2813 p.L938R 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors TRPM2 HGNC ENSG00000142185 17 0 0 16 14 46.6667 TRPM2 0 genome.wustl.edu 37 21 45846948 45846948 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 21 45846948 45846948 C T SNP TRPM2 ENST00000300482 human ensembl 74_37 +1 known missense c.3928 p.R1310C 1.000 superfamily_NUDIX_hydrolase_dom-like pfam_Ion_trans_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors TRPM2 HGNC ENSG00000142185 20 0 0 9 4 30.7692 LRRC3 0 genome.wustl.edu 37 21 45876898 45876898 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 21 45876898 45876898 G A SNP LRRC3 ENST00000291592 human ensembl 74_37 +1 known missense c.371 p.R124H 0.998 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC3 HGNC ENSG00000160233 68 0 0 53 19 26.3889 TSPEAR 0 genome.wustl.edu 37 21 45919682 45919682 + Missense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 21 45919682 45919682 C A SNP TSPEAR ENST00000323084 human ensembl 74_37 -1 known missense c.1994 p.R665L 0.962 pfscan_EAR pfam_EPTP,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_EAR - no_errors TSPEAR HGNC ENSG00000175894 10 0 0 4 5 55.5556 ADARB1 0 genome.wustl.edu 37 21 46604910 46604910 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 21 46604910 46604910 C T SNP ADARB1 ENST00000360697 human ensembl 74_37 +1 known missense c.1589 p.T530M 1.000 pfam_A_deamin,smart_A_deamin,pfscan_A_deamin pfam_A_deamin,pfam_dsRNA-bd_dom,superfamily_Cytokine_IL1-like,smart_dsRNA-bd_dom,smart_A_deamin,pfscan_dsRNA-bd_dom,pfscan_A_deamin - no_errors ADARB1 HGNC ENSG00000197381 181 1 0.549451 116 33 22.1477 SLC19A1 0 genome.wustl.edu 37 21 46951974 46951974 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 21 46951974 46951974 G A SNP SLC19A1 ENST00000311124 human ensembl 74_37 -1 known missense c.278 p.T93M 1.000 pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier - no_errors SLC19A1 HGNC ENSG00000173638 55 0 0 61 16 20.7792 MCM3AP 0 genome.wustl.edu 37 21 47684123 47684123 + Silent SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 21 47684123 47684123 C A SNP MCM3AP ENST00000291688 human ensembl 74_37 -1 known silent c.3243 p.A1081 0.000 NULL pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25 - no_errors MCM3AP HGNC ENSG00000160294 22 0 0 14 16 53.3333 PCNT 0 genome.wustl.edu 37 21 47754606 47754606 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 21 47754606 47754606 G A SNP PCNT ENST00000359568 human ensembl 74_37 +1 known missense c.563 p.S188N 0.015 NULL pfam_PACT_domain - no_errors PCNT HGNC ENSG00000160299 110 0 0 62 26 29.5455 PCNT 0 genome.wustl.edu 37 21 47832851 47832851 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 21 47832851 47832851 C T SNP PCNT ENST00000359568 human ensembl 74_37 +1 known missense c.6095 p.S2032L 0.994 NULL pfam_PACT_domain - no_errors PCNT HGNC ENSG00000160299 106 0 0 54 38 41.3043 CCT8L2 0 genome.wustl.edu 37 22 17072817 17072817 + Silent SNP C C G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 22 17072817 17072817 C G SNP CCT8L2 ENST00000359963 human ensembl 74_37 -1 known silent c.624 p.L208 0.031 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1 - no_errors CCT8L2 HGNC ENSG00000198445 125 0 0 108 8 6.89655 CECR6 0 genome.wustl.edu 37 22 17601013 17601013 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 22 17601013 17601013 C T SNP CECR6 ENST00000331437 human ensembl 74_37 -1 known silent c.1005 p.T335 1.000 NULL NULL - no_errors CECR6 HGNC ENSG00000183307 80 0 0 37 26 41.2698 CECR5 0 genome.wustl.edu 37 22 17619093 17619093 + Missense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 22 17619093 17619093 C A SNP CECR5 ENST00000336737 human ensembl 74_37 -1 known missense c.1090 p.G364C 1.000 superfamily_HAD-like_dom superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IIA_CECR5,tigrfam_HAD-SF_hydro_IIA - no_errors CECR5 HGNC ENSG00000069998 74 0 0 39 19 32.7586 CECR1 0 genome.wustl.edu 37 22 17670868 17670868 + Silent SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 22 17670868 17670868 T C SNP CECR1 ENST00000262607 human ensembl 74_37 -1 known silent c.936 p.R312 0.109 pfam_A/AMP_deaminase_dom,tigrfam_Ad_deam-like pfam_A/AMP_deaminase_dom,pfam_A_deaminase_N,tigrfam_Ad_deam-like - no_errors CECR1 HGNC ENSG00000093072 97 0 0 44 26 37.1429 BCL2L13 0 genome.wustl.edu 37 22 18209583 18209583 + Nonsense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 22 18209583 18209583 G A SNP BCL2L13 ENST00000317582 human ensembl 74_37 +1 known nonsense c.741 p.W247* 1.000 NULL pfam_Blc2_fam,pfscan_Bcl2-like - no_errors BCL2L13 HGNC ENSG00000099968 88 0 0 51 5 8.92857 MICAL3 0 genome.wustl.edu 37 22 18310435 18310435 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 22 18310435 18310435 C T SNP MICAL3 ENST00000441493 human ensembl 74_37 -1 known silent c.3168 p.P1056 0.001 NULL pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like - no_errors MICAL3 HGNC ENSG00000243156 10 0 0 3 3 50 DGCR6 0 genome.wustl.edu 37 22 18893922 18893922 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 22 18893922 18893922 C T SNP DGCR6 ENST00000331444 human ensembl 74_37 +1 known missense c.35 p.A12V 0.080 pfam_DGCR6 pfam_DGCR6 - no_errors DGCR6 HGNC ENSG00000183628 11 0 0 16 10 38.4615 C22orf29 0 genome.wustl.edu 37 22 19839687 19839687 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 22 19839687 19839687 G A SNP C22orf29 ENST00000328554 human ensembl 74_37 -1 known missense c.98 p.A33V 0.001 NULL NULL - no_errors C22orf29 HGNC ENSG00000215012 153 0 0 83 45 35.1562 KLHL22 0 genome.wustl.edu 37 22 20796663 20796663 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 22 20796663 20796663 G A SNP KLHL22 ENST00000328879 human ensembl 74_37 -1 known silent c.1602 p.H534 0.478 smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_Kelch_2,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL22 HGNC ENSG00000099910 79 0 0 60 24 28.5714 PPM1F 0 genome.wustl.edu 37 22 22300339 22300339 + Nonsense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 22 22300339 22300339 G A SNP PPM1F ENST00000263212 human ensembl 74_37 -1 known nonsense c.82 p.Q28* 0.000 NULL pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom - no_errors PPM1F HGNC ENSG00000100034 106 0 0 44 20 31.25 PPM1F 0 genome.wustl.edu 37 22 22300347 22300347 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 22 22300347 22300347 G A SNP PPM1F ENST00000263212 human ensembl 74_37 -1 known missense c.74 p.T25M 0.000 NULL pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom - no_errors PPM1F HGNC ENSG00000100034 109 0 0 46 19 29.2308 GNAZ 0 genome.wustl.edu 37 22 23438280 23438280 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 22 23438280 23438280 C T SNP GNAZ ENST00000248996 human ensembl 74_37 +1 known missense c.398 p.A133V 0.968 pfam_Gprotein_alpha_su,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I - no_errors GNAZ HGNC ENSG00000128266 100 0 0 53 38 41.7582 BCR 0 genome.wustl.edu 37 22 23596096 23596096 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 22 23596096 23596096 C T SNP BCR ENST00000305877 human ensembl 74_37 +1 known missense c.1390 p.P464S 0.998 NULL pfam_RhoGAP_dom,pfam_Bcr-Abl_oncoprot_oligo,pfam_DH-domain,pfam_C2_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_DH-domain,superfamily_Bcr-Abl_oncoprot_oligo,superfamily_C2_dom,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_dom,smart_RhoGAP_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom,pfscan_DH-domain - no_errors BCR HGNC ENSG00000186716 59 0 0 24 16 40 BCR 0 genome.wustl.edu 37 22 23656168 23656168 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 22 23656168 23656168 G A SNP BCR ENST00000305877 human ensembl 74_37 +1 known silent c.3471 p.P1157 0.395 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_Bcr-Abl_oncoprot_oligo,pfam_DH-domain,pfam_C2_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_DH-domain,superfamily_Bcr-Abl_oncoprot_oligo,superfamily_C2_dom,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_dom,smart_RhoGAP_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom,pfscan_DH-domain - no_errors BCR HGNC ENSG00000186716 200 1 0.497512 123 60 32.7869 RGL4 0 genome.wustl.edu 37 22 24039376 24039376 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 22 24039376 24039376 G A SNP RGL4 ENST00000290691 human ensembl 74_37 +1 known missense c.1180 p.G394R 1.000 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 - no_errors RGL4 HGNC ENSG00000159496 154 0 0 88 29 24.7863 SUSD2 0 genome.wustl.edu 37 22 24583316 24583316 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 22 24583316 24583316 G A SNP SUSD2 ENST00000358321 human ensembl 74_37 +1 known missense c.1789 p.G597R 0.996 pfam_VWF_type-D,smart_VWF_type-D pfam_AMOP,pfam_VWF_type-D,pfam_Sushi_SCR_CCP,pfam_Somatomedin_B_dom,superfamily_Sushi_SCR_CCP,superfamily_Ig_E-set,smart_AMOP,smart_VWF_type-D,smart_Sushi_SCR_CCP,pfscan_AMOP,pfscan_Somatomedin_B_dom,pfscan_Sushi_SCR_CCP - no_errors SUSD2 HGNC ENSG00000099994 83 0 0 38 19 33.3333 SPECC1L 0 genome.wustl.edu 37 22 24726395 24726395 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 22 24726395 24726395 C T SNP SPECC1L ENST00000314328 human ensembl 74_37 +1 known missense c.2392 p.R798C 1.000 NULL pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_bHLH_dom,smart_CH-domain,pfscan_CH-domain - no_errors SPECC1L HGNC ENSG00000100014 103 0 0 68 17 20 GGT1 0 genome.wustl.edu 37 22 25019812 25019812 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 22 25019812 25019812 G A SNP GGT1 ENST00000248923 human ensembl 74_37 +1 known missense c.949 p.V317I 1.000 pfam_GGT_peptidase,tigrfam_GGT_peptidase pfam_GGT_peptidase,prints_GGT_peptidase,tigrfam_GGT_peptidase - no_errors GGT1 HGNC ENSG00000100031 43 0 0 28 14 33.3333 GGT1 0 genome.wustl.edu 37 22 25024766 25024766 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 22 25024766 25024766 C T SNP GGT1 ENST00000248923 human ensembl 74_37 +1 known missense c.1670 p.A557V 1.000 pfam_GGT_peptidase,tigrfam_GGT_peptidase pfam_GGT_peptidase,prints_GGT_peptidase,tigrfam_GGT_peptidase - no_errors GGT1 HGNC ENSG00000100031 30 0 0 20 12 37.5 PIWIL3 0 genome.wustl.edu 37 22 25155856 25155856 + Missense_Mutation SNP C C G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 22 25155856 25155856 C G SNP PIWIL3 ENST00000332271 human ensembl 74_37 -1 known missense c.203 p.G68A 0.000 NULL pfam_Piwi,pfam_PAZ_dom,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi - no_errors PIWIL3 HGNC ENSG00000184571 674 0 0 380 102 21.1618 CRYBB2 0 genome.wustl.edu 37 22 25617439 25617439 + Missense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 22 25617439 25617439 C A SNP CRYBB2 ENST00000398215 human ensembl 74_37 +1 known missense c.43 p.L15I 1.000 NULL pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYBB2 HGNC ENSG00000244752 61 0 0 43 10 18.8679 HPS4 0 genome.wustl.edu 37 22 26859915 26859915 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 22 26859915 26859915 G A SNP HPS4 ENST00000398141 human ensembl 74_37 -1 known silent c.1720 p.L574 0.633 NULL NULL - no_errors HPS4 HGNC ENSG00000100099 72 0 0 24 20 45.4545 HPS4 0 genome.wustl.edu 37 22 26860019 26860019 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 22 26860019 26860019 C T SNP HPS4 ENST00000398141 human ensembl 74_37 -1 known missense c.1616 p.S539N 0.000 NULL NULL - no_errors HPS4 HGNC ENSG00000100099 107 0 0 53 33 38.3721 CRYBA4 0 genome.wustl.edu 37 22 27026389 27026389 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 22 27026389 27026389 C T SNP CRYBA4 ENST00000354760 human ensembl 74_37 +1 known missense c.529 p.R177W 0.600 pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,prints_Beta/gamma_crystallin pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYBA4 HGNC ENSG00000196431 30 0 0 19 20 51.2821 RASL10A 0 genome.wustl.edu 37 22 29709555 29709555 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 22 29709555 29709555 G A SNP RASL10A ENST00000216101 human ensembl 74_37 -1 known missense c.347 p.P116L 0.986 pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho 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 - no_errors RASL10A HGNC ENSG00000100276 20 0 0 16 4 20 AP1B1 0 genome.wustl.edu 37 22 29815196 29815196 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 22 29815196 29815196 T C SNP AP1B1 ENST00000415447 human ensembl 74_37 -1 known missense c.91 p.K31E 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP_complex_bsu_1_2_4 pfam_Clathrin/coatomer_adapt-like_N,pfam_B-adaptin_app_sub_C,pfam_HEAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Armadillo,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP_complex_bsu_1_2_4 - no_errors AP1B1 HGNC ENSG00000100280 213 0 0 131 35 21.0843 MTMR3 0 genome.wustl.edu 37 22 30416736 30416736 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 22 30416736 30416736 C T SNP MTMR3 ENST00000401950 human ensembl 74_37 +1 known missense c.3088 p.R1030C 1.000 NULL pfam_Myotubularin-like_Pase_dom,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Tyr_Pase_cat,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors MTMR3 HGNC ENSG00000100330 72 0 0 53 7 11.6667 PES1 0 genome.wustl.edu 37 22 30980610 30980610 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 22 30980610 30980610 C T SNP PES1 ENST00000354694 human ensembl 74_37 -1 known missense c.463 p.V155M 1.000 pfam_Pescadillo pfam_Pescadillo,pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom - no_errors PES1 HGNC ENSG00000100029 22 0 0 32 4 11.1111 INPP5J 0 genome.wustl.edu 37 22 31523368 31523368 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 22 31523368 31523368 G A SNP INPP5J ENST00000331075 human ensembl 74_37 +1 known missense c.1637 p.R546H 1.000 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc - no_errors INPP5J HGNC ENSG00000185133 25 0 0 18 9 33.3333 DEPDC5 0 genome.wustl.edu 37 22 32218710 32218710 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 22 32218710 32218710 A G SNP DEPDC5 ENST00000266091 human ensembl 74_37 +1 known missense c.2038 p.M680V 0.997 NULL pfam_IML1,pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom - no_errors DEPDC5 HGNC ENSG00000100150 50 0 0 23 10 30.303 BPIFC 0 genome.wustl.edu 37 22 32841856 32841856 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 22 32841856 32841856 C T SNP BPIFC ENST00000300399 human ensembl 74_37 -1 known missense c.502 p.A168T 0.890 pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C - no_errors BPIFC HGNC ENSG00000184459 60 0 0 24 22 47.8261 LARGE 0 genome.wustl.edu 37 22 33673216 33673216 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 22 33673216 33673216 C T SNP LARGE ENST00000354992 human ensembl 74_37 -1 known missense c.1903 p.A635T 1.000 NULL pfam_Glyco_trans_8 - no_errors LARGE HGNC ENSG00000133424 54 0 0 21 33 61.1111 ISX 0 genome.wustl.edu 37 22 35481594 35481594 + Missense_Mutation SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 22 35481594 35481594 G T SNP ISX ENST00000308700 human ensembl 74_37 +1 known missense c.646 p.G216C 0.020 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors ISX HGNC ENSG00000175329 201 0 0 142 11 7.18954 APOL2 0 genome.wustl.edu 37 22 36624263 36624263 + Missense_Mutation SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 22 36624263 36624263 G T SNP APOL2 ENST00000249066 human ensembl 74_37 -1 known missense c.201 p.D67E 0.001 pfam_ApoL pfam_ApoL - no_errors APOL2 HGNC ENSG00000128335 209 0 0 98 83 45.8564 EIF3D 0 genome.wustl.edu 37 22 36912576 36912576 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 22 36912576 36912576 G A SNP EIF3D ENST00000216190 human ensembl 74_37 -1 known silent c.1155 p.N385 1.000 pfam_eIF3d,pirsf_eIF3d pfam_eIF3d,pirsf_eIF3d - no_errors EIF3D HGNC ENSG00000100353 286 0 0 208 19 8.37004 KCTD17 0 genome.wustl.edu 37 22 37457620 37457620 + Missense_Mutation SNP G G C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 22 37457620 37457620 G C SNP KCTD17 ENST00000403888 human ensembl 74_37 +1 known missense c.847 p.V283L 0.006 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCTD17 HGNC ENSG00000100379 19 0 0 7 12 63.1579 TMPRSS6 0 genome.wustl.edu 37 22 37462147 37462147 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 22 37462147 37462147 G A SNP TMPRSS6 ENST00000381792 human ensembl 74_37 -1 known silent c.2448 p.I816 0.934 pirsf_Pept_S1A_matriptase-2,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pirsf_Pept_S1A_matriptase-2,pfam_Peptidase_S1,pfam_LDrepeatLR_classA_rpt,pfam_SEA_dom,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1,prints_Peptidase_S1A,prints_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1 - no_errors TMPRSS6 HGNC ENSG00000187045 94 0 0 44 35 44.3038 ELFN2 0 genome.wustl.edu 37 22 37770482 37770482 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 22 37770482 37770482 G A SNP ELFN2 ENST00000402918 human ensembl 74_37 -1 known missense c.1093 p.R365C 1.000 superfamily_Fibronectin_type3 superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,pfscan_LPXTG_anchor - no_errors ELFN2 HGNC ENSG00000166897 139 0 0 85 22 20.5607 GGA1 0 genome.wustl.edu 37 22 38014500 38014500 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 22 38014500 38014500 G A SNP GGA1 ENST00000343632 human ensembl 74_37 +1 known missense c.250 p.E84K 1.000 pfam_VHS,superfamily_ENTH_VHS,smart_VHS_subgr,pfscan_VHS pfam_VHS,pfam_GAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_Coatomer/clathrin_app_Ig-like,superfamily_ENTH_VHS,smart_VHS_subgr,smart_Clathrin_a/b/g-adaptin_app_Ig,pfscan_Clathrin_g-adaptin_app,pfscan_GAT,pfscan_VHS - no_errors GGA1 HGNC ENSG00000100083 40 0 0 28 6 17.6471 TRIOBP 0 genome.wustl.edu 37 22 38165112 38165112 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 22 38165112 38165112 C T SNP TRIOBP ENST00000406386 human ensembl 74_37 +1 known missense c.6653 p.A2218V 0.832 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors TRIOBP HGNC ENSG00000100106 51 0 0 35 16 31.3725 H1F0 0 genome.wustl.edu 37 22 38201808 38201808 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 22 38201808 38201808 G A SNP H1F0 ENST00000340857 human ensembl 74_37 +1 known missense c.257 p.G86E 1.000 pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5 pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5 - no_errors H1F0 HGNC ENSG00000189060 140 0 0 93 56 37.5839 BAIAP2L2 0 genome.wustl.edu 37 22 38481351 38481351 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 22 38481351 38481351 G A SNP BAIAP2L2 ENST00000381669 human ensembl 74_37 -1 known missense c.1546 p.R516C 0.970 NULL pfam_IRSp53/MIM_homology_IMD,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors BAIAP2L2 HGNC ENSG00000128298 32 0 0 33 20 37.7358 PLA2G6 0 genome.wustl.edu 37 22 38565404 38565404 + Silent SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 22 38565404 38565404 G T SNP PLA2G6 ENST00000332509 human ensembl 74_37 -1 known silent c.30 p.T10 0.996 NULL pfam_Ankyrin_rpt,pfam_Patatin/PLipase_A2-rel,superfamily_Ankyrin_rpt-contain_dom,superfamily_Acyl_Trfase/lysoPLipase,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors PLA2G6 HGNC ENSG00000184381 44 0 0 23 16 41.0256 CSNK1E 0 genome.wustl.edu 37 22 38690122 38690122 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 22 38690122 38690122 G A SNP CSNK1E ENST00000359867 human ensembl 74_37 -1 known missense c.1211 p.A404V 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CSNK1E HGNC ENSG00000213923 18 0 0 17 13 43.3333 ENSG00000225450 0 genome.wustl.edu 37 22 39135044 39135044 + RNA SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 22 39135044 39135044 C T SNP ENSG00000225450 ENST00000416406 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP3-508I15.14 Clone_based_vega_gene ENSG00000225450 9 0 0 1 4 80 CBX6 0 genome.wustl.edu 37 22 39262535 39262535 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 22 39262535 39262535 G A SNP CBX6 ENST00000407418 human ensembl 74_37 -1 known silent c.918 p.S306 0.993 NULL pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow,prints_Chromo_dom_subgr - no_errors CBX6 HGNC ENSG00000183741 9 0 0 11 8 42.1053 CBX6 0 genome.wustl.edu 37 22 39263061 39263061 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 22 39263061 39263061 C T SNP CBX6 ENST00000407418 human ensembl 74_37 -1 known missense c.392 p.R131H 1.000 NULL pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow,prints_Chromo_dom_subgr - no_errors CBX6 HGNC ENSG00000183741 19 0 0 20 10 33.3333 CBX7 0 genome.wustl.edu 37 22 39529913 39529913 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 22 39529913 39529913 G A SNP CBX7 ENST00000216133 human ensembl 74_37 -1 known missense c.739 p.R247C 1.000 NULL pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow,prints_Chromo_dom_subgr - no_errors CBX7 HGNC ENSG00000100307 77 0 0 47 38 44.7059 TAB1 0 genome.wustl.edu 37 22 39811635 39811635 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 22 39811635 39811635 G A SNP TAB1 ENST00000216160 human ensembl 74_37 +1 known missense c.301 p.D101N 0.989 pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom - no_errors TAB1 HGNC ENSG00000100324 46 0 0 43 16 27.1186 ENSG00000235513 0 genome.wustl.edu 37 22 41613088 41613088 + RNA SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 22 41613088 41613088 C T SNP ENSG00000235513 ENST00000441316 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP4-756G23.5 Clone_based_vega_gene ENSG00000235513 35 0 0 56 14 20 RANGAP1 0 genome.wustl.edu 37 22 41647028 41647028 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 22 41647028 41647028 G A SNP RANGAP1 ENST00000356244 human ensembl 74_37 -1 known missense c.1466 p.A489V 0.975 pfam_Ran_GTPase_activating_1_C,superfamily_Ran_GTPase_activating_1_C pfam_Ran_GTPase_activating_1_C,superfamily_Ran_GTPase_activating_1_C,smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors RANGAP1 HGNC ENSG00000100401 82 0 0 50 4 7.40741 RANGAP1 0 genome.wustl.edu 37 22 41647047 41647047 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 22 41647047 41647047 C T SNP RANGAP1 ENST00000356244 human ensembl 74_37 -1 known missense c.1447 p.E483K 0.965 pfam_Ran_GTPase_activating_1_C,superfamily_Ran_GTPase_activating_1_C pfam_Ran_GTPase_activating_1_C,superfamily_Ran_GTPase_activating_1_C,smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors RANGAP1 HGNC ENSG00000100401 77 0 0 51 5 8.92857 RANGAP1 0 genome.wustl.edu 37 22 41676983 41676983 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 22 41676983 41676983 C T SNP RANGAP1 ENST00000356244 human ensembl 74_37 -1 known silent c.66 p.Q22 1.000 NULL pfam_Ran_GTPase_activating_1_C,superfamily_Ran_GTPase_activating_1_C,smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors RANGAP1 HGNC ENSG00000100401 83 0 0 36 23 38.9831 MEI1 0 genome.wustl.edu 37 22 42139162 42139162 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 22 42139162 42139162 G A SNP MEI1 ENST00000401548 human ensembl 74_37 +1 known silent c.1410 p.A470 0.176 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MEI1 HGNC ENSG00000167077 32 0 0 30 15 33.3333 MEI1 0 genome.wustl.edu 37 22 42141893 42141893 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 22 42141893 42141893 G A SNP MEI1 ENST00000401548 human ensembl 74_37 +1 known missense c.1543 p.A515T 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MEI1 HGNC ENSG00000167077 44 0 0 23 21 47.7273 FAM109B 0 genome.wustl.edu 37 22 42473684 42473684 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 22 42473684 42473684 C T SNP FAM109B ENST00000321753 human ensembl 74_37 +1 known silent c.387 p.R129 0.453 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors FAM109B HGNC ENSG00000177096 103 0 0 51 46 47.4227 CYB5R3 0 genome.wustl.edu 37 22 43015861 43015861 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 22 43015861 43015861 C T SNP CYB5R3 ENST00000361740 human ensembl 74_37 -1 known missense c.923 p.G308D 0.995 pfam_OxRdtase_FAD/NAD-bd,prints_NADH-Cyt_B5_reductase,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase pfam_OxRdtase_FAD-bd_dom,pfam_OxRdtase_FAD/NAD-bd,superfamily_Riboflavin_synthase-like_b-brl,prints_NADH-Cyt_B5_reductase,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase - no_errors CYB5R3 HGNC ENSG00000100243 13 0 0 10 10 50 CYB5R3 0 genome.wustl.edu 37 22 43019833 43019833 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 22 43019833 43019833 C T SNP CYB5R3 ENST00000361740 human ensembl 74_37 -1 known missense c.794 p.R265H 0.315 pfam_OxRdtase_FAD/NAD-bd pfam_OxRdtase_FAD-bd_dom,pfam_OxRdtase_FAD/NAD-bd,superfamily_Riboflavin_synthase-like_b-brl,prints_NADH-Cyt_B5_reductase,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase - no_errors CYB5R3 HGNC ENSG00000100243 109 0 0 72 31 30.0971 PNPLA5 0 genome.wustl.edu 37 22 44287022 44287022 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 22 44287022 44287022 G A SNP PNPLA5 ENST00000216177 human ensembl 74_37 -1 known silent c.346 p.L116 0.818 pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase - no_errors PNPLA5 HGNC ENSG00000100341 39 0 0 23 16 41.0256 SAMM50 0 genome.wustl.edu 37 22 44385033 44385033 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 22 44385033 44385033 A G SNP SAMM50 ENST00000350028 human ensembl 74_37 +1 known missense c.1118 p.H373R 1.000 pfam_Bac_surfAg_D15 pfam_Bac_surfAg_D15 - no_errors SAMM50 HGNC ENSG00000100347 169 0 0 68 41 37.6147 ARHGAP8 0 genome.wustl.edu 37 22 45243858 45243858 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 22 45243858 45243858 C T SNP ARHGAP8 ENST00000517296 human ensembl 74_37 +1 known missense c.1306 p.R436C 0.032 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_HbrB,pfam_CRAL-TRIO_dom,superfamily_Rho_GTPase_activation_prot,superfamily_CRAL-TRIO_dom,smart_RhoGAP_dom,pfscan_CRAL-TRIO_dom,pfscan_RhoGAP_dom - no_errors ARHGAP8 HGNC ENSG00000241484 54 0 0 74 7 8.64198 PHF21B 0 genome.wustl.edu 37 22 45309752 45309752 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 22 45309752 45309752 C T SNP PHF21B ENST00000313237 human ensembl 74_37 -1 known missense c.781 p.A261T 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF21B HGNC ENSG00000056487 118 0 0 64 49 43.3628 TRMU 0 genome.wustl.edu 37 22 46742425 46742425 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 22 46742425 46742425 G A SNP TRMU ENST00000290846 human ensembl 74_37 +1 known silent c.462 p.R154 0.883 pfam_tRNA-specific_2-thiouridylase,tigrfam_tRNA-specific_2-thiouridylase pfam_tRNA-specific_2-thiouridylase,pfam_ThiI_C_dom,pfam_NAD/GMP_synthase,tigrfam_tRNA-specific_2-thiouridylase - no_errors TRMU HGNC ENSG00000100416 136 0 0 62 16 20.5128 GRAMD4 0 genome.wustl.edu 37 22 47069661 47069661 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 22 47069661 47069661 G A SNP GRAMD4 ENST00000361034 human ensembl 74_37 +1 known missense c.1334 p.G445D 1.000 smart_GRAM pfam_GRAM,smart_GRAM - no_errors GRAMD4 HGNC ENSG00000075240 190 0 0 159 90 36.1446 BRD1 0 genome.wustl.edu 37 22 50217466 50217466 + Missense_Mutation SNP T T A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 22 50217466 50217466 T A SNP BRD1 ENST00000216267 human ensembl 74_37 -1 known missense c.500 p.E167V 1.000 pfam_Enhancer_polycomb-like_N pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP_dom,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP_dom,prints_Bromodomain,pfscan_PWWP_dom,pfscan_Znf_PHD-finger,pfscan_Bromodomain - no_errors BRD1 HGNC ENSG00000100425 88 0 0 45 31 40.7895 MOV10L1 0 genome.wustl.edu 37 22 50563916 50563916 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 22 50563916 50563916 C T SNP MOV10L1 ENST00000262794 human ensembl 74_37 +1 known silent c.1665 p.S555 0.712 NULL superfamily_P-loop_NTPase,superfamily_NA-bd_OB-fold - no_errors MOV10L1 HGNC ENSG00000073146 92 0 0 34 24 41.3793 MAPK12 0 genome.wustl.edu 37 22 50689187 50689187 + RNA SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 22 50689187 50689187 C T SNP MAPK12 ENST00000497036 human ensembl 74_37 -1 known rna NULL NULL 0.063 - - - no_errors MAPK12 HGNC ENSG00000188130 14 0 0 5 5 50 PPP6R2 0 genome.wustl.edu 37 22 50876602 50876602 + Splice_Site SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 22 50876602 50876602 G A SNP PPP6R2 ENST00000216061 human ensembl 74_37 +1 known splice_site c.1840-1 e16-1 1.000 - - - no_errors PPP6R2 HGNC ENSG00000100239 170 0 0 107 60 35.9281 SBF1 0 genome.wustl.edu 37 22 50893457 50893457 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 22 50893457 50893457 G A SNP SBF1 ENST00000380817 human ensembl 74_37 -1 known missense c.4669 p.R1557C 1.000 NULL 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 93 0 0 44 21 32.3077 LMF2 0 genome.wustl.edu 37 22 50943916 50943916 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 22 50943916 50943916 C T SNP LMF2 ENST00000474879 human ensembl 74_37 -1 known missense c.967 p.V323I 0.000 pfam_LMF pfam_LMF - no_errors LMF2 HGNC ENSG00000100258 107 0 0 73 43 37.069 SHANK3 0 genome.wustl.edu 37 22 51117057 51117057 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 22 51117057 51117057 G A SNP SHANK3 ENST00000262795 human ensembl 74_37 +1 known silent c.384 p.T128 0.324 superfamily_Ankyrin_rpt-contain_dom pfam_SAM_type1,pfam_Ankyrin_rpt,pfam_SAM_2,pfam_SH3_2,pfam_PDZ,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain - no_errors SHANK3 HGNC ENSG00000251322 41 0 0 17 11 39.2857 SENP7 0 genome.wustl.edu 37 3 101085430 101085430 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 101085430 101085430 C T SNP SENP7 ENST00000394095 human ensembl 74_37 -1 known missense c.1162 p.G388S 0.011 NULL pfam_Peptidase_C48,pfscan_Peptidase_C48 - no_errors SENP7 HGNC ENSG00000138468 118 0 0 33 19 36.5385 CEP97 0 genome.wustl.edu 37 3 101474321 101474321 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 101474321 101474321 G A SNP CEP97 ENST00000327230 human ensembl 74_37 +1 known missense c.776 p.R259Q 1.000 NULL pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,pfscan_IQ_motif_EF-hand-BS - no_errors CEP97 HGNC ENSG00000182504 82 0 0 34 33 49.2537 VHL 0 genome.wustl.edu 37 3 10188237 10188237 + Missense_Mutation SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 10188237 10188237 G T SNP VHL ENST00000256474 human ensembl 74_37 +1 known missense c.380 p.G127V 1.000 pfam_VHL_tumour_suppress_b/a_dom,superfamily_VHL_tumour_suppress_b/a_dom pfam_VHL_tumour_suppress_b/a_dom,superfamily_VHL_tumour_suppress_b/a_dom - no_errors VHL HGNC ENSG00000134086 191 0 0 84 40 32.2581 ATP2B2 0 genome.wustl.edu 37 3 10370624 10370624 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 10370624 10370624 C T SNP ATP2B2 ENST00000352432 human ensembl 74_37 -1 known silent c.3606 p.P1202 1.000 NULL pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2B2 HGNC ENSG00000157087 94 0 0 42 32 43.2432 ATP2B2 0 genome.wustl.edu 37 3 10430087 10430087 + Splice_Site SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 10430087 10430087 C A SNP ATP2B2 ENST00000352432 human ensembl 74_37 -1 known splice_site c.782-1 e5-1 1.000 - - - no_errors ATP2B2 HGNC ENSG00000157087 165 0 0 92 64 41.0256 ALCAM 0 genome.wustl.edu 37 3 105266081 105266081 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 105266081 105266081 A G SNP ALCAM ENST00000306107 human ensembl 74_37 +1 known missense c.1193 p.E398G 1.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_CD80_C2-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors ALCAM HGNC ENSG00000170017 118 0 0 45 20 30.7692 DZIP3 0 genome.wustl.edu 37 3 108363512 108363512 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 108363512 108363512 A G SNP DZIP3 ENST00000361582 human ensembl 74_37 +1 known missense c.1643 p.D548G 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors DZIP3 HGNC ENSG00000198919 120 0 0 50 32 39.0244 TRAT1 0 genome.wustl.edu 37 3 108541693 108541693 + RNA SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 108541693 108541693 C A SNP TRAT1 ENST00000493604 human ensembl 74_37 +1 known rna NULL NULL 0.014 - - - no_errors TRAT1 HGNC ENSG00000163519 53 0 0 25 16 39.0244 PVRL3 0 genome.wustl.edu 37 3 110830886 110830886 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 110830886 110830886 C T SNP PVRL3 ENST00000485303 human ensembl 74_37 +1 known missense c.170 p.A57V 1.000 NULL pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors PVRL3 HGNC ENSG00000177707 48 0 0 22 7 24.1379 CCDC80 0 genome.wustl.edu 37 3 112337840 112337840 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 112337840 112337840 A G SNP CCDC80 ENST00000206423 human ensembl 74_37 -1 known missense c.2147 p.L716P 1.000 NULL NULL - no_errors CCDC80 HGNC ENSG00000091986 105 0 0 44 9 16.9811 SIDT1 0 genome.wustl.edu 37 3 113327011 113327011 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 113327011 113327011 C T SNP SIDT1 ENST00000393830 human ensembl 74_37 +1 known missense c.1549 p.R517C 0.910 NULL NULL - no_errors SIDT1 HGNC ENSG00000072858 183 0 0 66 50 43.1034 KIAA1407 0 genome.wustl.edu 37 3 113697048 113697048 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 113697048 113697048 G A SNP KIAA1407 ENST00000295878 human ensembl 74_37 -1 known missense c.2591 p.A864V 0.000 NULL NULL - no_errors KIAA1407 HGNC ENSG00000163617 121 0 0 54 43 44.3299 B4GALT4 0 genome.wustl.edu 37 3 118948986 118948986 + RNA SNP C C G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 118948986 118948986 C G SNP B4GALT4 ENST00000460395 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors B4GALT4 HGNC ENSG00000121578 82 0 0 40 17 29.8246 TMEM39A 0 genome.wustl.edu 37 3 119165958 119165958 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 119165958 119165958 A G SNP TMEM39A ENST00000319172 human ensembl 74_37 -1 known missense c.482 p.V161A 1.000 pfam_Uncharacterised_TMEM39 pfam_Uncharacterised_TMEM39 - no_errors TMEM39A HGNC ENSG00000176142 75 0 0 28 15 34.8837 PLA1A 0 genome.wustl.edu 37 3 119325724 119325724 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 119325724 119325724 G A SNP PLA1A ENST00000273371 human ensembl 74_37 +1 known silent c.177 p.S59 0.001 pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase - no_errors PLA1A HGNC ENSG00000144837 209 0 0 114 58 33.7209 STXBP5L 0 genome.wustl.edu 37 3 121132132 121132132 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 121132132 121132132 C T SNP STXBP5L ENST00000273666 human ensembl 74_37 +1 known missense c.3148 p.R1050W 1.000 pfam_Lgl_C_dom pfam_LLGL2,pfam_WD40_repeat,pfam_Lgl_C_dom,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,pfscan_Synaptobrevin,prints_Lethal2_giant - no_errors STXBP5L HGNC ENSG00000145087 95 0 0 35 21 37.5 IQCB1 0 genome.wustl.edu 37 3 121500637 121500637 + Nonsense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 121500637 121500637 G A SNP IQCB1 ENST00000310864 human ensembl 74_37 -1 known nonsense c.1363 p.R455* 0.992 NULL pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors IQCB1 HGNC ENSG00000173226 100 0 0 27 23 46 DIRC2 0 genome.wustl.edu 37 3 122545749 122545749 + Silent SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 122545749 122545749 C A SNP DIRC2 ENST00000261038 human ensembl 74_37 +1 known silent c.540 p.A180 0.994 superfamily_MFS_dom_general_subst_transpt superfamily_MFS_dom_general_subst_transpt - no_errors DIRC2 HGNC ENSG00000138463 141 0 0 58 40 40.8163 MYLK 0 genome.wustl.edu 37 3 123332966 123332966 + Nonsense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 123332966 123332966 C A SNP MYLK ENST00000360304 human ensembl 74_37 -1 known nonsense c.5731 p.E1911* 1.000 NULL pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,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 MYLK HGNC ENSG00000065534 255 0 0 84 66 44 MYLK 0 genome.wustl.edu 37 3 123401075 123401075 + Silent SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 123401075 123401075 A G SNP MYLK ENST00000360304 human ensembl 74_37 -1 known silent c.3648 p.T1216 0.912 NULL pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,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 MYLK HGNC ENSG00000065534 12 0 0 12 7 36.8421 ITGB5 0 genome.wustl.edu 37 3 124515331 124515331 + Missense_Mutation SNP A A T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 124515331 124515331 A T SNP ITGB5 ENST00000296181 human ensembl 74_37 -1 known missense c.1597 p.C533S 1.000 pirsf_Integrin_bsu,pfam_EGF_extracell,prints_Integrin_bsu pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_cyt_dom,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,smart_VWF_A,prints_Integrin_bsu - no_errors ITGB5 HGNC ENSG00000082781 115 0 0 94 35 27.1318 CCDC37 0 genome.wustl.edu 37 3 126133119 126133119 + Missense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 126133119 126133119 C A SNP CCDC37 ENST00000510833 human ensembl 74_37 +1 putative missense c.322 p.L108I 0.001 NULL NULL - no_errors CCDC37 HGNC ENSG00000163885 57 0 0 28 21 42.8571 ZXDC 0 genome.wustl.edu 37 3 126160621 126160621 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 126160621 126160621 A G SNP ZXDC ENST00000389709 human ensembl 74_37 -1 known missense c.2381 p.V794A 0.119 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZXDC HGNC ENSG00000070476 66 0 0 28 23 45.098 TPRA1 0 genome.wustl.edu 37 3 127294000 127294000 + RNA SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 127294000 127294000 G A SNP TPRA1 ENST00000465915 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors TPRA1 HGNC ENSG00000163870 29 0 0 26 18 40.9091 COPG1 0 genome.wustl.edu 37 3 128979574 128979574 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 128979574 128979574 C T SNP COPG1 ENST00000314797 human ensembl 74_37 +1 known missense c.1052 p.T351M 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_Coatomer_gsu pfam_Clathrin/coatomer_adapt-like_N,pfam_Coatomer_gsu_app_Ig-like-sub,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,superfamily_Coatomer/calthrin_app_sub_C,pirsf_Coatomer_gsu - no_errors COPG1 HGNC ENSG00000181789 102 0 0 59 34 36.5591 RHO 0 genome.wustl.edu 37 3 129247930 129247930 + Silent SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 129247930 129247930 C A SNP RHO ENST00000296271 human ensembl 74_37 +1 known silent c.354 p.T118 0.003 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_Rhodopsin_N,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Rhodopsin,prints_GPCR_Rhodpsn,prints_Opsin - no_errors RHO HGNC ENSG00000163914 113 0 0 65 30 31.5789 TMCC1 0 genome.wustl.edu 37 3 129370588 129370588 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 129370588 129370588 C T SNP TMCC1 ENST00000393238 human ensembl 74_37 -1 known silent c.1698 p.Q566 1.000 pfam_Predicted_TM_coiled-coil_2 pfam_Predicted_TM_coiled-coil_2 - no_errors TMCC1 HGNC ENSG00000172765 120 0 0 54 33 37.931 COL6A6 0 genome.wustl.edu 37 3 130284123 130284123 + Missense_Mutation SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 130284123 130284123 G T SNP COL6A6 ENST00000358511 human ensembl 74_37 +1 known missense c.947 p.R316M 0.692 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A6 HGNC ENSG00000206384 145 0 0 73 42 36.5217 COL6A6 0 genome.wustl.edu 37 3 130285766 130285766 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 130285766 130285766 G A SNP COL6A6 ENST00000358511 human ensembl 74_37 +1 known silent c.1503 p.K501 0.474 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A6 HGNC ENSG00000206384 114 0 0 74 42 36.2069 COL6A6 0 genome.wustl.edu 37 3 130340717 130340717 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 130340717 130340717 A G SNP COL6A6 ENST00000358511 human ensembl 74_37 +1 known missense c.4868 p.Q1623R 1.000 pfam_Collagen pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A6 HGNC ENSG00000206384 68 0 0 21 17 44.7368 ATP2C1 0 genome.wustl.edu 37 3 130649267 130649267 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 130649267 130649267 G A SNP ATP2C1 ENST00000393221 human ensembl 74_37 +1 known missense c.116 p.R39H 1.000 NULL pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_PMR1,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2C1 HGNC ENSG00000017260 59 0 0 13 10 43.4783 NEK11 0 genome.wustl.edu 37 3 131068501 131068501 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 131068501 131068501 T C SNP NEK11 ENST00000383366 human ensembl 74_37 +1 known missense c.1819 p.C607R 0.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK11 HGNC ENSG00000114670 105 0 0 42 20 32.2581 DNAJC13 0 genome.wustl.edu 37 3 132196986 132196986 + Splice_Site SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 132196986 132196986 T C SNP DNAJC13 ENST00000260818 human ensembl 74_37 +1 known splice_site c.2709+2 e23+2 1.000 - - - no_errors DNAJC13 HGNC ENSG00000138246 83 0 0 58 4 6.45161 ACAD11 0 genome.wustl.edu 37 3 132360908 132360908 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 132360908 132360908 T C SNP ACAD11 ENST00000264990 human ensembl 74_37 -1 known missense c.445 p.T149A 0.111 pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom pfam_Aminoglycoside_PTrfase,pfam_AcylCo_DH/oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,pfam_AcylCoA_DH/ox_N,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_AcylCo_DH/oxidase_C,superfamily_Kinase-like_dom - no_errors ACAD11 HGNC ENSG00000240303 138 0 0 57 38 40 TF 0 genome.wustl.edu 37 3 133494292 133494292 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 133494292 133494292 C T SNP TF ENST00000402696 human ensembl 74_37 +1 known missense c.1703 p.P568L 0.000 pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin,prints_Transferrin_fam - no_errors TF HGNC ENSG00000091513 145 0 0 66 54 45 TF 0 genome.wustl.edu 37 3 133494370 133494370 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 133494370 133494370 C T SNP TF ENST00000402696 human ensembl 74_37 +1 known missense c.1781 p.A594V 0.000 pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin,prints_Transferrin_fam - no_errors TF HGNC ENSG00000091513 213 0 0 178 10 5.31915 NUP210 0 genome.wustl.edu 37 3 13384782 13384782 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 13384782 13384782 A G SNP NUP210 ENST00000254508 human ensembl 74_37 -1 known missense c.2857 p.S953P 0.043 NULL pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,superfamily_Cadherin-like,smart_Big_2 - no_errors NUP210 HGNC ENSG00000132182 54 0 0 35 19 35.1852 ANAPC13 0 genome.wustl.edu 37 3 134201677 134201677 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 134201677 134201677 G A SNP ANAPC13 ENST00000354910 human ensembl 74_37 -1 known silent c.70 p.L24 1.000 pfam_Apc13p pfam_Apc13p - no_errors ANAPC13 HGNC ENSG00000129055 192 0 0 74 53 41.7323 CEP63 0 genome.wustl.edu 37 3 134256004 134256004 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 134256004 134256004 G A SNP CEP63 ENST00000337090 human ensembl 74_37 +1 known missense c.449 p.R150H 1.000 NULL NULL - no_errors CEP63 HGNC ENSG00000182923 98 0 0 49 30 37.9747 CNTN6 0 genome.wustl.edu 37 3 1363376 1363376 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 1363376 1363376 G A SNP CNTN6 ENST00000350110 human ensembl 74_37 +1 known silent c.804 p.P268 0.144 pfam_Ig_I-set,pfam_Immunoglobulin,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 133 0 0 89 48 35.0365 COPB2 0 genome.wustl.edu 37 3 139092574 139092574 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 139092574 139092574 G A SNP COPB2 ENST00000333188 human ensembl 74_37 -1 known silent c.828 p.C276 1.000 pirsf_COPB2,superfamily_WD40_repeat_dom pirsf_COPB2,pfam_Coatomer_WD-assoc_reg,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors COPB2 HGNC ENSG00000184432 69 0 0 34 13 27.6596 ZBTB38 0 genome.wustl.edu 37 3 141163125 141163125 + Missense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 141163125 141163125 C A SNP ZBTB38 ENST00000321464 human ensembl 74_37 +1 known missense c.1898 p.P633Q 0.003 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB38 HGNC ENSG00000177311 140 0 0 62 36 36.7347 GRK7 0 genome.wustl.edu 37 3 141497563 141497563 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 141497563 141497563 C T SNP GRK7 ENST00000264952 human ensembl 74_37 +1 known missense c.437 p.A146V 0.023 pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RGS_dom,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Regulat_G_prot_signal_superfam,pfscan_Prot_kinase_dom,prints_GPCR_kinase - no_errors GRK7 HGNC ENSG00000114124 68 0 0 52 7 11.8644 ATR 0 genome.wustl.edu 37 3 142268341 142268341 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 142268341 142268341 G A SNP ATR ENST00000350721 human ensembl 74_37 -1 known missense c.3151 p.R1051C 1.000 superfamily_ARM-type_fold pfam_PI3/4_kinase_cat_dom,pfam_PIK-rel_kinase_FAT,pfam_UME,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_UME,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_HEAT_type_2,pfscan_PI3/4_kinase_cat_dom - no_errors ATR HGNC ENSG00000175054 24 0 0 11 5 31.25 PBX2P1 0 genome.wustl.edu 37 3 142896209 142896209 + RNA SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 142896209 142896209 C T SNP PBX2P1 ENST00000560287 human ensembl 74_37 +1 known rna NULL NULL 0.973 - - - no_errors PBX2P1 HGNC ENSG00000244171 55 0 0 24 25 51.0204 C3orf58 0 genome.wustl.edu 37 3 143691373 143691373 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 143691373 143691373 T C SNP C3orf58 ENST00000315691 human ensembl 74_37 +1 known missense c.199 p.F67L 1.000 NULL NULL - no_errors C3orf58 HGNC ENSG00000181744 63 0 0 36 26 41.9355 GRIP2 0 genome.wustl.edu 37 3 14549157 14549157 + RNA SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 14549157 14549157 G A SNP GRIP2 ENST00000273083 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors GRIP2 HGNC ENSG00000144596 62 0 0 35 10 22.2222 PLSCR1 0 genome.wustl.edu 37 3 146251312 146251312 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 146251312 146251312 C T SNP PLSCR1 ENST00000448787 human ensembl 74_37 -1 putative missense c.14 p.R5Q 0.001 NULL pfam_Scramblase,superfamily_Tubby_C-like - no_errors PLSCR1 HGNC ENSG00000188313 96 0 0 41 26 38.806 HPS3 0 genome.wustl.edu 37 3 148871324 148871324 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 148871324 148871324 A G SNP HPS3 ENST00000296051 human ensembl 74_37 +1 known missense c.1289 p.Q430R 1.000 pirsf_HPS3 pirsf_HPS3 - no_errors HPS3 HGNC ENSG00000163755 110 0 0 47 23 32.8571 TM4SF18 0 genome.wustl.edu 37 3 149051121 149051121 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 149051121 149051121 G A SNP TM4SF18 ENST00000296059 human ensembl 74_37 -1 known missense c.49 p.L17F 0.958 pfam_L6_membrane pfam_L6_membrane - no_errors TM4SF18 HGNC ENSG00000163762 50 0 0 43 4 8.51064 FGD5 0 genome.wustl.edu 37 3 14964573 14964573 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 14964573 14964573 G A SNP FGD5 ENST00000285046 human ensembl 74_37 +1 known silent c.3828 p.S1276 0.000 pfam_Znf_FYVE,smart_Znf_FYVE,pfscan_Znf_FYVE-rel pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD5 HGNC ENSG00000154783 83 0 0 61 33 35.1064 FAM194A 0 genome.wustl.edu 37 3 150419909 150419909 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 150419909 150419909 T C SNP FAM194A ENST00000295910 human ensembl 74_37 -1 known missense c.460 p.R154G 0.608 NULL NULL - no_errors FAM194A HGNC ENSG00000163645 26 0 0 6 5 45.4545 MED12L 0 genome.wustl.edu 37 3 151100481 151100481 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 151100481 151100481 A G SNP MED12L ENST00000474524 human ensembl 74_37 +1 known missense c.4523 p.D1508G 0.997 NULL pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd - no_errors MED12L HGNC ENSG00000144893 40 0 0 16 14 46.6667 ZFYVE20 0 genome.wustl.edu 37 3 15119666 15119666 + Missense_Mutation SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 15119666 15119666 G T SNP ZFYVE20 ENST00000253699 human ensembl 74_37 -1 known missense c.914 p.A305D 1.000 NULL pfam_Rbsn,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Znf_C2H2 - no_errors ZFYVE20 HGNC ENSG00000131381 68 0 0 38 12 24 AADAC 0 genome.wustl.edu 37 3 151531954 151531954 + Nonsense_Mutation SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 151531954 151531954 G T SNP AADAC ENST00000232892 human ensembl 74_37 +1 known nonsense c.4 p.G2* 0.886 pirsf_Arylacetamide_deacetylase pfam_AB_hydrolase_3,pfam_CarbesteraseB,pirsf_Arylacetamide_deacetylase - no_errors AADAC HGNC ENSG00000114771 168 0 0 108 6 5.26316 MBNL1 0 genome.wustl.edu 37 3 152173354 152173354 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 152173354 152173354 G A SNP MBNL1 ENST00000324210 human ensembl 74_37 +1 known missense c.985 p.A329T 1.000 NULL smart_Znf_CCCH - no_errors MBNL1 HGNC ENSG00000152601 144 0 0 55 25 31.25 CAPN7 0 genome.wustl.edu 37 3 15274039 15274039 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 15274039 15274039 A G SNP CAPN7 ENST00000253693 human ensembl 74_37 +1 known missense c.1046 p.D349G 1.000 pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease,pfscan_Peptidase_C2_calpain_cat pfam_Peptidase_C2_calpain_cat,pfam_MIT,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_MIT,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,prints_Calpain_cysteine_protease,pfscan_Peptidase_C2_calpain_cat - no_errors CAPN7 HGNC ENSG00000131375 75 0 0 14 15 51.7241 DHX36 0 genome.wustl.edu 37 3 154033826 154033826 + Splice_Site SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 154033826 154033826 A G SNP DHX36 ENST00000496811 human ensembl 74_37 -1 known splice_site c.368+2 e2+2 1.000 - - - no_errors DHX36 HGNC ENSG00000174953 31 0 0 8 8 50 PLCH1 0 genome.wustl.edu 37 3 155222384 155222384 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 155222384 155222384 G A SNP PLCH1 ENST00000340059 human ensembl 74_37 -1 known missense c.1628 p.S543L 0.994 superfamily_PLC-like_Pdiesterase_TIM-brl 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 PLCH1 HGNC ENSG00000114805 75 0 0 16 11 40.7407 VEPH1 0 genome.wustl.edu 37 3 157081298 157081298 + Missense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 157081298 157081298 C A SNP VEPH1 ENST00000362010 human ensembl 74_37 -1 known missense c.1590 p.Q530H 0.009 NULL pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors VEPH1 HGNC ENSG00000197415 172 0 0 50 31 38.2716 SMC4 0 genome.wustl.edu 37 3 160141302 160141302 + Silent SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 160141302 160141302 A G SNP SMC4 ENST00000344722 human ensembl 74_37 +1 known silent c.2109 p.K703 0.960 pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,smart_SMC_hinge pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,superfamily_Chemotax_Me-accpt_rcpt_lig-bd,superfamily_Prefoldin,smart_SMC_hinge - no_errors SMC4 HGNC ENSG00000113810 152 0 0 57 52 47.7064 PPM1L 0 genome.wustl.edu 37 3 160679656 160679656 + Nonsense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 160679656 160679656 C T SNP PPM1L ENST00000498165 human ensembl 74_37 +1 known nonsense c.532 p.R178* 1.000 pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom - no_errors PPM1L HGNC ENSG00000163590 92 0 0 44 9 16.9811 PPM1L 0 genome.wustl.edu 37 3 160783285 160783285 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 160783285 160783285 C T SNP PPM1L ENST00000498165 human ensembl 74_37 +1 known silent c.669 p.N223 0.796 pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom - no_errors PPM1L HGNC ENSG00000163590 110 0 0 52 18 25.7143 GALNT15 0 genome.wustl.edu 37 3 16217062 16217062 + Missense_Mutation SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 16217062 16217062 G T SNP GALNT15 ENST00000339732 human ensembl 74_37 +1 known missense c.404 p.W135L 0.998 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT15 HGNC ENSG00000131386 56 0 0 26 22 45.8333 SI 0 genome.wustl.edu 37 3 164714430 164714430 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 164714430 164714430 C T SNP SI ENST00000264382 human ensembl 74_37 -1 known missense c.4585 p.D1529N 1.000 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 SI HGNC ENSG00000090402 103 0 0 25 10 28.5714 ZBBX 0 genome.wustl.edu 37 3 166958587 166958587 + Silent SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 166958587 166958587 A G SNP ZBBX ENST00000307529 human ensembl 74_37 -1 known silent c.2514 p.S838 0.000 NULL pfam_Znf_B-box - no_errors ZBBX HGNC ENSG00000169064 81 0 0 31 21 40.3846 GOLIM4 0 genome.wustl.edu 37 3 167750483 167750483 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 167750483 167750483 T C SNP GOLIM4 ENST00000470487 human ensembl 74_37 -1 known missense c.1001 p.Q334R 0.995 NULL NULL - no_errors GOLIM4 HGNC ENSG00000173905 136 0 0 62 26 29.5455 PHC3 0 genome.wustl.edu 37 3 169847182 169847182 + Missense_Mutation SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 169847182 169847182 G T SNP PHC3 ENST00000495893 human ensembl 74_37 -1 known missense c.1078 p.P360T 0.993 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM,pfscan_Znf_FCS - no_errors PHC3 HGNC ENSG00000173889 117 0 0 82 49 37.4046 RPL22L1 0 genome.wustl.edu 37 3 170586135 170586135 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 170586135 170586135 C T SNP RPL22L1 ENST00000295830 human ensembl 74_37 -1 known silent c.54 p.L18 1.000 pfam_Ribosomal_L22e pfam_Ribosomal_L22e - no_errors RPL22L1 HGNC ENSG00000163584 59 0 0 26 17 39.5349 SLC2A2 0 genome.wustl.edu 37 3 170723843 170723843 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 170723843 170723843 G A SNP SLC2A2 ENST00000314251 human ensembl 74_37 -1 known missense c.664 p.L222F 1.000 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,prints_Sugar/inositol_transpt,prints_Glc_transpt_2,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt - no_errors SLC2A2 HGNC ENSG00000163581 74 0 0 30 18 37.5 PIK3CA 0 genome.wustl.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 178952085 178952085 A G SNP PIK3CA ENST00000263967 human ensembl 74_37 +1 known missense c.3140 p.H1047R 1.000 superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom 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 105 0 0 28 17 37.7778 PEX5L 0 genome.wustl.edu 37 3 179537679 179537679 + Missense_Mutation SNP T T G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 179537679 179537679 T G SNP PEX5L ENST00000467460 human ensembl 74_37 -1 known missense c.908 p.Q303P 1.000 NULL pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors PEX5L HGNC ENSG00000114757 124 0 0 39 37 48.6842 HTR3E 0 genome.wustl.edu 37 3 183822631 183822631 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 183822631 183822631 G A SNP HTR3E ENST00000335304 human ensembl 74_37 +1 known missense c.491 p.R164H 0.395 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Neur_channel - no_errors HTR3E HGNC ENSG00000186038 113 1 0.877193 55 33 37.5 DVL3 0 genome.wustl.edu 37 3 183882166 183882166 + Missense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 183882166 183882166 C A SNP DVL3 ENST00000313143 human ensembl 74_37 +1 known missense c.343 p.P115T 1.000 NULL pfam_Dishevelled_C-dom,pfam_DIX,pfam_Dishevelled_protein_dom,pfam_PDZ,pfam_DEP_dom,superfamily_PDZ,smart_DIX,smart_PDZ,smart_DEP_dom,pfscan_DEP_dom,pfscan_DIX,pfscan_PDZ,prints_Dishevelled_fam,prints_Dishevelled_3 - no_errors DVL3 HGNC ENSG00000161202 93 0 0 47 46 49.4624 AP2M1 0 genome.wustl.edu 37 3 183901269 183901269 + Splice_Site SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 183901269 183901269 G T SNP AP2M1 ENST00000292807 human ensembl 74_37 +1 known splice_site c.1174-1 e11-1 1.000 - - - no_errors AP2M1 HGNC ENSG00000161203 124 0 0 84 5 5.61798 ECE2 0 genome.wustl.edu 37 3 183976192 183976192 + Silent SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 183976192 183976192 C A SNP ECE2 ENST00000324557 human ensembl 74_37 +1 known silent c.597 p.T199 0.994 NULL pfam_Methyltransf_11,pfam_Methyltransf_12 - no_errors ECE2 HGNC ENSG00000145194 236 0 0 137 44 24.3094 ECE2 0 genome.wustl.edu 37 3 184009865 184009865 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 184009865 184009865 C T SNP ECE2 ENST00000402825 human ensembl 74_37 +1 known missense c.2491 p.R831C 1.000 pfam_Peptidase_M13_C pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,pfam_Methyltransf_11,prints_Peptidase_M13_C - no_errors ECE2 HGNC ENSG00000145194 68 0 0 49 19 27.9412 C3orf65 0 genome.wustl.edu 37 3 185434436 185434436 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 185434436 185434436 C T SNP C3orf65 ENST00000296270 human ensembl 74_37 +1 known missense c.269 p.A90V 0.005 NULL NULL - no_errors C3orf65 HGNC ENSG00000163915 53 0 0 28 14 33.3333 ETV5 0 genome.wustl.edu 37 3 185797727 185797727 + Missense_Mutation SNP C C G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 185797727 185797727 C G SNP ETV5 ENST00000537818 human ensembl 74_37 -1 known missense c.655 p.A219P 0.799 pfam_ETS_PEA3_N pfam_ETS_PEA3_N,pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ETV5 HGNC ENSG00000244405 112 0 0 52 18 25.7143 TPRG1 0 genome.wustl.edu 37 3 188925188 188925188 + Silent SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 188925188 188925188 G T SNP TPRG1 ENST00000345063 human ensembl 74_37 +1 known silent c.15 p.G5 0.998 NULL pfam_Inositol_phosphatase - no_errors TPRG1 HGNC ENSG00000188001 92 0 0 43 21 32.8125 CLDN1 0 genome.wustl.edu 37 3 190039836 190039836 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 190039836 190039836 A G SNP CLDN1 ENST00000295522 human ensembl 74_37 -1 known missense c.160 p.C54R 1.000 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin1,prints_Claudin14 - no_errors CLDN1 HGNC ENSG00000163347 101 0 0 58 31 34.8315 CLDN16 0 genome.wustl.edu 37 3 190120187 190120187 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 190120187 190120187 G A SNP CLDN16 ENST00000264734 human ensembl 74_37 +1 known missense c.386 p.R129H 1.000 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin,prints_Claudin16,prints_Claudin - no_errors CLDN16 HGNC ENSG00000113946 120 0 0 63 39 38.2353 MUC4 0 genome.wustl.edu 37 3 195484043 195484043 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 195484043 195484043 C T SNP MUC4 ENST00000463781 human ensembl 74_37 -1 known missense c.15143 p.S5048N 0.184 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 103 1 0.961538 78 30 27.7778 WDR53 0 genome.wustl.edu 37 3 196288312 196288312 + Missense_Mutation SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 196288312 196288312 G T SNP WDR53 ENST00000332629 human ensembl 74_37 -1 known missense c.35 p.P12H 0.953 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR53 HGNC ENSG00000185798 48 0 0 32 14 30.4348 NCBP2 0 genome.wustl.edu 37 3 196664431 196664431 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 196664431 196664431 C T SNP NCBP2 ENST00000321256 human ensembl 74_37 -1 known missense c.349 p.A117T 1.000 pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors NCBP2 HGNC ENSG00000114503 102 0 0 43 28 39.4366 ZNF385D 0 genome.wustl.edu 37 3 21606141 21606141 + Silent SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 21606141 21606141 T C SNP ZNF385D ENST00000281523 human ensembl 74_37 -1 known silent c.201 p.T67 1.000 NULL pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like - no_errors ZNF385D HGNC ENSG00000151789 71 0 0 25 16 39.0244 THRB 0 genome.wustl.edu 37 3 24193953 24193953 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 24193953 24193953 G A SNP THRB ENST00000356447 human ensembl 74_37 -1 known silent c.312 p.D104 0.816 smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_ThyrH_rcpt pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_ThyrH_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors THRB HGNC ENSG00000151090 57 0 0 22 5 18.5185 TGFBR2 0 genome.wustl.edu 37 3 30648432 30648432 + Silent SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 30648432 30648432 T C SNP TGFBR2 ENST00000359013 human ensembl 74_37 +1 known silent c.57 p.R19 1.000 pirsf_Transform_growth_fac-b_typ-2 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 11 0 0 3 8 72.7273 TGFBR2 0 genome.wustl.edu 37 3 30729962 30729962 + Nonsense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 30729962 30729962 C T SNP TGFBR2 ENST00000359013 human ensembl 74_37 +1 known nonsense c.1558 p.R520* 0.999 pirsf_Transform_growth_fac-b_typ-2,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 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 86 0 0 51 31 37.8049 ZNF860 0 genome.wustl.edu 37 3 32030702 32030702 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 32030702 32030702 C T SNP ZNF860 ENST00000360311 human ensembl 74_37 +1 known missense c.131 p.T44M 0.270 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF860 HGNC ENSG00000197385 107 0 0 101 9 8.18182 CMTM8 0 genome.wustl.edu 37 3 32398895 32398895 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 32398895 32398895 G A SNP CMTM8 ENST00000307526 human ensembl 74_37 +1 known missense c.178 p.A60T 0.997 pfam_Marvel,prints_MAL pfam_Marvel,prints_MAL - no_errors CMTM8 HGNC ENSG00000170293 154 0 0 51 41 44.5652 CMTM6 0 genome.wustl.edu 37 3 32544163 32544163 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 32544163 32544163 G A SNP CMTM6 ENST00000205636 human ensembl 74_37 -1 known silent c.75 p.L25 0.511 NULL pfam_Marvel - no_errors CMTM6 HGNC ENSG00000091317 13 0 0 7 8 53.3333 TMPPE 0 genome.wustl.edu 37 3 33135617 33135617 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 33135617 33135617 A G SNP TMPPE ENST00000342462 human ensembl 74_37 -1 known missense c.71 p.M24T 1.000 NULL pfam_PEstase_dom - no_errors TMPPE HGNC ENSG00000188167 94 0 0 58 28 32.5581 UBP1 0 genome.wustl.edu 37 3 33467186 33467186 + Missense_Mutation SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 33467186 33467186 G T SNP UBP1 ENST00000283628 human ensembl 74_37 -1 known missense c.161 p.P54Q 1.000 NULL pfam_CP2,superfamily_SAM/pointed - no_errors UBP1 HGNC ENSG00000153560 46 0 0 24 13 35.1351 ARPP21 0 genome.wustl.edu 37 3 35778784 35778784 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 35778784 35778784 A G SNP ARPP21 ENST00000417925 human ensembl 74_37 +1 known missense c.1472 p.Q491R 1.000 NULL pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd - no_errors ARPP21 HGNC ENSG00000172995 69 0 0 46 34 42.5 DCLK3 0 genome.wustl.edu 37 3 36756838 36756838 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 36756838 36756838 A G SNP DCLK3 ENST00000416516 human ensembl 74_37 -1 known missense c.1928 p.V643A 0.000 superfamily_Kinase-like_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 DCLK3 HGNC ENSG00000163673 60 0 0 30 14 31.8182 TRANK1 0 genome.wustl.edu 37 3 36897282 36897282 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 36897282 36897282 G A SNP TRANK1 ENST00000429976 human ensembl 74_37 -1 known missense c.3799 p.R1267C 0.000 superfamily_P-loop_NTPase pfam_UvrD-like_ATP-bd,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom - no_errors TRANK1 HGNC ENSG00000168016 205 0 0 105 77 42.3077 ITGA9 0 genome.wustl.edu 37 3 37574880 37574880 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 37574880 37574880 C T SNP ITGA9 ENST00000264741 human ensembl 74_37 +1 known silent c.1449 p.H483 0.481 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA9 HGNC ENSG00000144668 63 0 0 31 18 36.7347 VILL 0 genome.wustl.edu 37 3 38039623 38039623 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 38039623 38039623 G A SNP VILL ENST00000283713 human ensembl 74_37 +1 known silent c.807 p.A269 0.231 smart_Villin/Gelsolin pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin/Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Villin/Gelsolin - no_errors VILL HGNC ENSG00000136059 50 0 0 9 9 50 MYD88 0 genome.wustl.edu 37 3 38181445 38181445 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 38181445 38181445 G A SNP MYD88 ENST00000417037 human ensembl 74_37 +1 known missense c.458 p.R153Q 0.378 pirsf_Myelin_different_resp_MyD88 pfam_TIR_dom,pfam_Death_domain,superfamily_DEATH-like_dom,superfamily_TIR_dom,smart_Death_domain,smart_TIR_dom,pirsf_Myelin_different_resp_MyD88,pfscan_Death_domain,pfscan_TIR_dom - no_errors MYD88 HGNC ENSG00000172936 27 0 0 41 6 12.766 MYD88 0 genome.wustl.edu 37 3 38182637 38182637 + Nonsense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 38182637 38182637 C T SNP MYD88 ENST00000417037 human ensembl 74_37 +1 known nonsense c.814 p.R272* 1.000 pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pirsf_Myelin_different_resp_MyD88,pfscan_TIR_dom pfam_TIR_dom,pfam_Death_domain,superfamily_DEATH-like_dom,superfamily_TIR_dom,smart_Death_domain,smart_TIR_dom,pirsf_Myelin_different_resp_MyD88,pfscan_Death_domain,pfscan_TIR_dom - no_errors MYD88 HGNC ENSG00000172936 113 0 0 86 5 5.49451 XYLB 0 genome.wustl.edu 37 3 38416746 38416746 + Missense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 38416746 38416746 C A SNP XYLB ENST00000207870 human ensembl 74_37 +1 known missense c.1000 p.L334M 0.747 pfam_Carb_kinase_FGGY_C pfam_Carb_kinase_FGGY_C,pfam_Carb_kinase_FGGY_N - no_errors XYLB HGNC ENSG00000093217 48 0 0 27 15 35.7143 SCN5A 0 genome.wustl.edu 37 3 38592944 38592944 + Missense_Mutation SNP G G C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 38592944 38592944 G C SNP SCN5A ENST00000333535 human ensembl 74_37 -1 known missense c.4919 p.A1640G 1.000 pfam_Ion_trans_dom,pfam_PKD1_2_channel pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu - no_errors SCN5A HGNC ENSG00000183873 150 0 0 162 12 6.89655 SCN5A 0 genome.wustl.edu 37 3 38655264 38655264 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 38655264 38655264 G A SNP SCN5A ENST00000333535 human ensembl 74_37 -1 known missense c.673 p.R225W 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu - no_errors SCN5A HGNC ENSG00000183873 17 0 0 9 5 35.7143 TTC21A 0 genome.wustl.edu 37 3 39178807 39178807 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 39178807 39178807 C T SNP TTC21A ENST00000301819 human ensembl 74_37 +1 known missense c.3403 p.R1135W 1.000 NULL pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC21A HGNC ENSG00000168026 40 0 0 17 10 37.037 XIRP1 0 genome.wustl.edu 37 3 39225733 39225733 + Missense_Mutation SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 39225733 39225733 G T SNP XIRP1 ENST00000340369 human ensembl 74_37 -1 known missense c.5204 p.P1735H 0.002 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP1 HGNC ENSG00000168334 149 0 0 83 8 8.79121 CTNNB1 0 genome.wustl.edu 37 3 41267268 41267268 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 41267268 41267268 C T SNP CTNNB1 ENST00000349496 human ensembl 74_37 +1 known silent c.852 p.A284 0.892 superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,prints_Beta-catenin - no_errors CTNNB1 HGNC ENSG00000168036 96 0 0 33 32 49.2308 TRAK1 0 genome.wustl.edu 37 3 42166997 42166997 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 42166997 42166997 C T SNP TRAK1 ENST00000327628 human ensembl 74_37 +1 putative silent c.177 p.D59 1.000 pfam_HAP1_N pfam_HAP1_N,pfam_Traffickng_kinesin-bd_prot_dom - no_errors TRAK1 HGNC ENSG00000182606 108 0 0 51 27 34.6154 VIPR1 0 genome.wustl.edu 37 3 42572370 42572370 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 42572370 42572370 G A SNP VIPR1 ENST00000325123 human ensembl 74_37 +1 known missense c.736 p.V246I 0.999 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_VIP_rcpt_1 pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_VIP_rcpt_1,prints_GPCR_2_secretin-like,prints_GPCR_2_VIP_rcpt - no_errors VIPR1 HGNC ENSG00000114812 129 0 0 42 43 50.5882 NKTR 0 genome.wustl.edu 37 3 42662950 42662950 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 42662950 42662950 G A SNP NKTR ENST00000232978 human ensembl 74_37 +1 known missense c.316 p.A106T 1.000 pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors NKTR HGNC ENSG00000114857 53 0 0 29 4 12.1212 NKTR 0 genome.wustl.edu 37 3 42679755 42679755 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 42679755 42679755 C T SNP NKTR ENST00000232978 human ensembl 74_37 +1 known silent c.2559 p.C853 0.000 NULL pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors NKTR HGNC ENSG00000114857 80 0 0 47 34 41.9753 ZNF502 0 genome.wustl.edu 37 3 44763241 44763241 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 44763241 44763241 C T SNP ZNF502 ENST00000296091 human ensembl 74_37 +1 known missense c.932 p.T311M 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF502 HGNC ENSG00000196653 222 1 0.44843 93 47 33.5714 LIMD1 0 genome.wustl.edu 37 3 45636943 45636943 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 45636943 45636943 G A SNP LIMD1 ENST00000273317 human ensembl 74_37 +1 known missense c.572 p.G191D 0.147 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LIMD1 HGNC ENSG00000144791 104 0 0 53 34 39.0805 CCRL2 0 genome.wustl.edu 37 3 46450555 46450555 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 46450555 46450555 T C SNP CCRL2 ENST00000357392 human ensembl 74_37 +1 known missense c.1021 p.S341P 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt - no_errors CCRL2 HGNC ENSG00000121797 201 0 0 82 56 40.5797 ALS2CL 0 genome.wustl.edu 37 3 46722884 46722884 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 46722884 46722884 C T SNP ALS2CL ENST00000318962 human ensembl 74_37 -1 known missense c.1288 p.E430K 0.271 smart_MORN pfam_MORN,pfam_VPS9,superfamily_DH-domain,smart_MORN,pfscan_VPS9 - no_errors ALS2CL HGNC ENSG00000178038 141 0 0 83 48 36.6412 CCDC12 0 genome.wustl.edu 37 3 46963601 46963601 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 46963601 46963601 G A SNP CCDC12 ENST00000292314 human ensembl 74_37 -1 known silent c.486 p.S162 0.989 NULL pfam_mRNA_splic_Cwf18 - no_errors CCDC12 HGNC ENSG00000160799 139 0 0 68 44 39.2857 NBEAL2 0 genome.wustl.edu 37 3 47045630 47045630 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 47045630 47045630 A G SNP NBEAL2 ENST00000450053 human ensembl 74_37 +1 known missense c.5945 p.N1982S 1.000 NULL pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NBEAL2 HGNC ENSG00000160796 303 0 0 187 97 34.1549 PTPN23 0 genome.wustl.edu 37 3 47451306 47451306 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 47451306 47451306 G A SNP PTPN23 ENST00000265562 human ensembl 74_37 +1 known missense c.2111 p.R704H 1.000 NULL pfam_BRO1_dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_BRO1_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN23 HGNC ENSG00000076201 17 0 0 13 4 23.5294 CSPG5 0 genome.wustl.edu 37 3 47619066 47619066 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 47619066 47619066 G A SNP CSPG5 ENST00000383738 human ensembl 74_37 -1 known silent c.450 p.S150 0.000 pfam_Chon_Sulph_att pfam_Chon_Sulph_att,pfam_Neural_ProG_Cyt - no_errors CSPG5 HGNC ENSG00000114646 88 0 0 79 10 11.236 DHX30 0 genome.wustl.edu 37 3 47888052 47888052 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 47888052 47888052 T C SNP DHX30 ENST00000445061 human ensembl 74_37 +1 known missense c.1490 p.V497A 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DUF1605,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX30 HGNC ENSG00000132153 104 0 0 53 46 46.4646 PLXNB1 0 genome.wustl.edu 37 3 48455211 48455211 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 48455211 48455211 A G SNP PLXNB1 ENST00000296440 human ensembl 74_37 -1 known missense c.4403 p.L1468S 1.000 NULL pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNB1 HGNC ENSG00000164050 60 0 0 62 6 8.82353 PLXNB1 0 genome.wustl.edu 37 3 48461117 48461117 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 48461117 48461117 C T SNP PLXNB1 ENST00000296440 human ensembl 74_37 -1 known missense c.2578 p.A860T 0.929 NULL pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNB1 HGNC ENSG00000164050 32 0 0 17 13 43.3333 PLXNB1 0 genome.wustl.edu 37 3 48461322 48461322 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 48461322 48461322 C T SNP PLXNB1 ENST00000296440 human ensembl 74_37 -1 known silent c.2373 p.P791 0.002 NULL pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNB1 HGNC ENSG00000164050 24 0 0 23 5 17.8571 SHISA5 0 genome.wustl.edu 37 3 48510575 48510575 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 48510575 48510575 G A SNP SHISA5 ENST00000296444 human ensembl 74_37 -1 known silent c.654 p.A218 0.000 NULL NULL - no_errors SHISA5 HGNC ENSG00000164054 68 0 0 28 32 53.3333 SHISA5 0 genome.wustl.edu 37 3 48520624 48520624 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 48520624 48520624 C T SNP SHISA5 ENST00000296444 human ensembl 74_37 -1 known silent c.276 p.A92 0.000 NULL NULL - no_errors SHISA5 HGNC ENSG00000164054 19 0 0 15 7 31.8182 PFKFB4 0 genome.wustl.edu 37 3 48573768 48573768 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 48573768 48573768 A G SNP PFKFB4 ENST00000232375 human ensembl 74_37 -1 known missense c.761 p.L254P 1.000 pfam_His_Pase_superF_clade-1,smart_His_Pase_superF_clade-1,pirsf_Bifunct_6PFK/fruc_bisP_Ptase,prints_6Pfruct_kin pfam_6Phosfructo_kin,pfam_His_Pase_superF_clade-1,superfamily_P-loop_NTPase,smart_His_Pase_superF_clade-1,pirsf_Bifunct_6PFK/fruc_bisP_Ptase,prints_6Pfruct_kin - no_errors PFKFB4 HGNC ENSG00000114268 176 0 0 98 80 44.9438 CELSR3 0 genome.wustl.edu 37 3 48685381 48685381 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 48685381 48685381 C T SNP CELSR3 ENST00000544264 human ensembl 74_37 -1 known missense c.7037 p.R2346H 0.044 pfam_DUF3497 pfam_Cadherin,pfam_GPCR_2_secretin-like,pfam_Laminin_G,pfam_DUF3497,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR3 HGNC ENSG00000008300 172 0 0 102 61 37.4233 CELSR3 0 genome.wustl.edu 37 3 48685826 48685826 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 48685826 48685826 C T SNP CELSR3 ENST00000544264 human ensembl 74_37 -1 known silent c.6861 p.Q2287 1.000 pfam_DUF3497 pfam_Cadherin,pfam_GPCR_2_secretin-like,pfam_Laminin_G,pfam_DUF3497,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR3 HGNC ENSG00000008300 29 0 0 19 14 42.4242 CELSR3 0 genome.wustl.edu 37 3 48690532 48690532 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 48690532 48690532 C T SNP CELSR3 ENST00000544264 human ensembl 74_37 -1 known missense c.5537 p.G1846D 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Cadherin,pfam_GPCR_2_secretin-like,pfam_Laminin_G,pfam_DUF3497,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR3 HGNC ENSG00000008300 85 0 0 75 11 12.7907 ARIH2 0 genome.wustl.edu 37 3 49011181 49011181 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 49011181 49011181 C T SNP ARIH2 ENST00000356401 human ensembl 74_37 +1 known missense c.820 p.R274W 1.000 NULL pfam_Znf_C6HC,smart_Znf_RING,smart_Znf_C6HC,pfscan_Znf_RING - no_errors ARIH2 HGNC ENSG00000177479 71 0 0 46 23 33.3333 USP19 0 genome.wustl.edu 37 3 49148936 49148936 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 49148936 49148936 C T SNP USP19 ENST00000398888 human ensembl 74_37 -1 known missense c.2905 p.E969K 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Znf_MYND,pfam_CS_dom,superfamily_HSP20-like_chaperone,pfscan_CS_dom,pfscan_Znf_MYND,pfscan_Peptidase_C19/C67 - no_errors USP19 HGNC ENSG00000172046 74 0 0 37 38 50.6667 LAMB2 0 genome.wustl.edu 37 3 49162247 49162247 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 49162247 49162247 G A SNP LAMB2 ENST00000305544 human ensembl 74_37 -1 known missense c.2996 p.A999V 1.000 pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom,pfscan_EGF_laminin pfam_EGF_laminin,pfam_Laminin_N,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB2 HGNC ENSG00000172037 90 0 0 53 35 39.7727 USP4 0 genome.wustl.edu 37 3 49339872 49339872 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 49339872 49339872 C T SNP USP4 ENST00000265560 human ensembl 74_37 -1 known missense c.1232 p.R411Q 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Pept_C19_DUSP,smart_Pept_C19_DUSP,pfscan_Peptidase_C19/C67 - no_errors USP4 HGNC ENSG00000114316 145 0 0 59 12 16.9014 USP4 0 genome.wustl.edu 37 3 49373016 49373016 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 49373016 49373016 T C SNP USP4 ENST00000265560 human ensembl 74_37 -1 known missense c.115 p.S39G 1.000 pfam_Pept_C19_DUSP,smart_Pept_C19_DUSP pfam_Peptidase_C19/C67,pfam_Pept_C19_DUSP,smart_Pept_C19_DUSP,pfscan_Peptidase_C19/C67 - no_errors USP4 HGNC ENSG00000114316 80 0 0 52 16 23.5294 BSN 0 genome.wustl.edu 37 3 49699106 49699106 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 49699106 49699106 C T SNP BSN ENST00000296452 human ensembl 74_37 +1 known silent c.9828 p.D3276 1.000 NULL pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD - no_errors BSN HGNC ENSG00000164061 100 0 0 75 39 34.2105 MST1 0 genome.wustl.edu 37 3 49722070 49722070 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 49722070 49722070 G A SNP MST1 ENST00000449682 human ensembl 74_37 -1 known missense c.1789 p.R597C 1.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Kringle,pfam_Peptidase_S1,pfam_PAN-1_domain,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors MST1 HGNC ENSG00000173531 127 0 0 86 57 39.8601 MST1 0 genome.wustl.edu 37 3 49722283 49722283 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 49722283 49722283 C T SNP MST1 ENST00000449682 human ensembl 74_37 -1 known missense c.1657 p.G553S 1.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Kringle,pfam_Peptidase_S1,pfam_PAN-1_domain,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors MST1 HGNC ENSG00000173531 71 0 0 46 20 30.303 MST1 0 genome.wustl.edu 37 3 49725025 49725025 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 49725025 49725025 G A SNP MST1 ENST00000449682 human ensembl 74_37 -1 known missense c.319 p.R107W 1.000 pfam_PAN-1_domain,smart_Pan_app,pfscan_Pan_app pfam_Kringle,pfam_Peptidase_S1,pfam_PAN-1_domain,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors MST1 HGNC ENSG00000173531 96 0 0 40 21 34.4262 IP6K1 0 genome.wustl.edu 37 3 49764800 49764800 + Missense_Mutation SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 49764800 49764800 G T SNP IP6K1 ENST00000321599 human ensembl 74_37 -1 known missense c.1081 p.L361M 0.140 pfam_IPK pfam_IPK - no_errors IP6K1 HGNC ENSG00000176095 85 0 0 34 21 38.1818 CAMKV 0 genome.wustl.edu 37 3 49898998 49898998 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 49898998 49898998 C T SNP CAMKV ENST00000487726 human ensembl 74_37 -1 known missense c.274 p.G92R 1.000 NULL superfamily_Kinase-like_dom - no_errors CAMKV HGNC ENSG00000164076 79 0 0 32 24 42.8571 NPRL2 0 genome.wustl.edu 37 3 50385556 50385556 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 50385556 50385556 G A SNP NPRL2 ENST00000232501 human ensembl 74_37 -1 known missense c.931 p.R311W 0.994 pfam_NPR2 pfam_NPR2 - no_errors NPRL2 HGNC ENSG00000114388 103 0 0 40 21 34.4262 DOCK3 0 genome.wustl.edu 37 3 51392444 51392444 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 51392444 51392444 C T SNP DOCK3 ENST00000266037 human ensembl 74_37 +1 known silent c.4239 p.C1413 0.986 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK3 HGNC ENSG00000088538 65 0 0 34 6 15 PARP3 0 genome.wustl.edu 37 3 51978417 51978417 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 51978417 51978417 C T SNP PARP3 ENST00000398755 human ensembl 74_37 +1 known silent c.345 p.G115 1.000 pfam_WGR_domain,superfamily_WGR_domain,smart_WGR_domain pfam_Poly(ADP-ribose)pol_cat_dom,pfam_Poly(ADP-ribose)pol_reg_dom,pfam_WGR_domain,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_WGR_domain,smart_WGR_domain,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom - no_errors PARP3 HGNC ENSG00000041880 160 0 0 162 23 12.4324 ALAS1 0 genome.wustl.edu 37 3 52242221 52242221 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 52242221 52242221 G A SNP ALAS1 ENST00000310271 human ensembl 74_37 +1 known missense c.1288 p.D430N 1.000 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase,tigrfam_4pyrrol_synth_NH2levulA_synth pfam_Aminotransferase_I/II,pfam_5aminolev_synth_preseq,pfam_Cys/Met-Metab_PyrdxlP-dep_enz,pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase,tigrfam_4pyrrol_synth_NH2levulA_synth - no_errors ALAS1 HGNC ENSG00000023330 113 0 0 76 9 10.5882 DNAH1 0 genome.wustl.edu 37 3 52387194 52387194 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 52387194 52387194 C T SNP DNAH1 ENST00000420323 human ensembl 74_37 +1 known missense c.3103 p.R1035C 1.000 pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase - no_errors DNAH1 HGNC ENSG00000114841 46 0 0 29 18 38.2979 DNAH1 0 genome.wustl.edu 37 3 52428993 52428993 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 52428993 52428993 G A SNP DNAH1 ENST00000420323 human ensembl 74_37 +1 known missense c.10886 p.R3629H 1.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase - no_errors DNAH1 HGNC ENSG00000114841 25 0 0 17 14 45.1613 ITIH1 0 genome.wustl.edu 37 3 52821010 52821010 + Nonsense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 52821010 52821010 C T SNP ITIH1 ENST00000273283 human ensembl 74_37 +1 known nonsense c.1783 p.Q595* 0.022 NULL pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,superfamily_PsdUridine_synth_cat_dom,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH1 HGNC ENSG00000055957 75 0 0 29 22 43.1373 SFMBT1 0 genome.wustl.edu 37 3 52950206 52950206 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 52950206 52950206 G A SNP SFMBT1 ENST00000358080 human ensembl 74_37 -1 known silent c.1440 p.H480 0.952 NULL pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt - no_errors SFMBT1 HGNC ENSG00000163935 73 0 0 33 25 43.1034 TKT 0 genome.wustl.edu 37 3 53275202 53275202 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 53275202 53275202 C T SNP TKT ENST00000423525 human ensembl 74_37 -1 known silent c.285 p.A95 0.009 pfam_Transketolase_N pfam_Transketolase_N,pfam_Transketolase-like_Pyr-bd,pfam_Transketolase_C,pfam_DH_E1,superfamily_Transketo_C/Pyr-ferredox_oxred,smart_Transketolase-like_Pyr-bd - no_errors TKT HGNC ENSG00000163931 52 0 0 60 9 13.0435 CACNA1D 0 genome.wustl.edu 37 3 53766961 53766961 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 53766961 53766961 G A SNP CACNA1D ENST00000288139 human ensembl 74_37 +1 known missense c.2653 p.A885T 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_LVDCC_a1dsu - no_errors CACNA1D HGNC ENSG00000157388 80 0 0 27 27 50 CACNA1D 0 genome.wustl.edu 37 3 53845159 53845159 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 53845159 53845159 T C SNP CACNA1D ENST00000288139 human ensembl 74_37 +1 known missense c.6272 p.L2091S 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_LVDCC_a1dsu - no_errors CACNA1D HGNC ENSG00000157388 115 0 0 61 33 35.1064 CACNA2D3-AS1 0 genome.wustl.edu 37 3 54928704 54928704 + RNA SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 54928704 54928704 G T SNP CACNA2D3-AS1 ENST00000471265 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CACNA2D3-AS1 HGNC ENSG00000243715 12 0 0 7 6 46.1538 LRTM1 0 genome.wustl.edu 37 3 54952604 54952604 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 54952604 54952604 G A SNP LRTM1 ENST00000273286 human ensembl 74_37 -1 known missense c.920 p.A307V 0.871 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRTM1 HGNC ENSG00000144771 155 0 0 120 7 5.51181 WNT5A 0 genome.wustl.edu 37 3 55504262 55504262 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 55504262 55504262 C T SNP WNT5A ENST00000264634 human ensembl 74_37 -1 known missense c.1001 p.G334D 1.000 pfam_Wnt,smart_Wnt pfam_Wnt,smart_Wnt,prints_Wnt - no_errors WNT5A HGNC ENSG00000114251 106 0 0 81 26 24.2991 ERC2 0 genome.wustl.edu 37 3 55922525 55922525 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 55922525 55922525 G A SNP ERC2 ENST00000288221 human ensembl 74_37 -1 known missense c.2456 p.T819I 1.000 pfam_CAZ_cplx_RIM-bd_prot pfam_CAZ_cplx_RIM-bd_prot,superfamily_Prefoldin - no_errors ERC2 HGNC ENSG00000187672 193 0 0 95 51 34.9315 ARHGEF3 0 genome.wustl.edu 37 3 56766423 56766423 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 56766423 56766423 C T SNP ARHGEF3 ENST00000338458 human ensembl 74_37 -1 known silent c.1167 p.V389 0.968 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF3 HGNC ENSG00000163947 175 0 0 87 46 34.5865 FLNB 0 genome.wustl.edu 37 3 58080594 58080594 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 58080594 58080594 G A SNP FLNB ENST00000295956 human ensembl 74_37 +1 known silent c.819 p.Q273 1.000 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNB HGNC ENSG00000136068 226 1 0.440529 166 77 31.6872 PTPRG 0 genome.wustl.edu 37 3 62189140 62189140 + Missense_Mutation SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 62189140 62189140 G T SNP PTPRG ENST00000474889 human ensembl 74_37 +1 known missense c.1671 p.E557D 0.997 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRG HGNC ENSG00000144724 12 0 0 5 7 58.3333 FEZF2 0 genome.wustl.edu 37 3 62358365 62358365 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 62358365 62358365 C T SNP FEZF2 ENST00000283268 human ensembl 74_37 -1 known missense c.179 p.G60D 0.999 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors FEZF2 HGNC ENSG00000153266 37 0 0 25 18 41.8605 CADPS 0 genome.wustl.edu 37 3 62535763 62535763 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 62535763 62535763 T C SNP CADPS ENST00000383710 human ensembl 74_37 -1 known missense c.1781 p.N594S 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Ca-dep_secretion_activator,superfamily_C2_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors CADPS HGNC ENSG00000163618 118 0 0 65 43 39.8148 THOC7 0 genome.wustl.edu 37 3 63820861 63820861 + Missense_Mutation SNP A A T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 63820861 63820861 A T SNP THOC7 ENST00000295899 human ensembl 74_37 -1 known missense c.516 p.S172R 0.973 NULL pfam_THOC7/Mft1 - no_errors THOC7 HGNC ENSG00000163634 45 0 0 12 9 42.8571 SLC25A26 0 genome.wustl.edu 37 3 66428187 66428187 + Nonsense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 66428187 66428187 C T SNP SLC25A26 ENST00000354883 human ensembl 74_37 +1 known nonsense c.781 p.R261* 0.998 pfam_Mitochondrial_sb/sol_carrier,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A26 HGNC ENSG00000144741 180 0 0 149 15 9.14634 FAM86DP 0 genome.wustl.edu 37 3 75475656 75475656 + RNA SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 75475656 75475656 G A SNP FAM86DP ENST00000459803 human ensembl 74_37 -1 known rna NULL NULL 0.927 - - - no_errors FAM86DP HGNC ENSG00000244026 56 0 0 15 51 77.2727 GRM7 0 genome.wustl.edu 37 3 7620162 7620162 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 7620162 7620162 C T SNP GRM7 ENST00000402647 human ensembl 74_37 +1 known silent c.1569 p.C523 1.000 pfam_GPCR_3_9-Cys_dom pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_7,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4 - no_errors GRM7 HGNC ENSG00000196277 92 0 0 43 25 36.7647 CHMP2B 0 genome.wustl.edu 37 3 87295032 87295032 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 87295032 87295032 G A SNP CHMP2B ENST00000263780 human ensembl 74_37 +1 known missense c.295 p.A99T 1.000 pfam_Snf7 pfam_Snf7 - no_errors CHMP2B HGNC ENSG00000083937 103 0 0 47 5 9.61538 EPHA3 0 genome.wustl.edu 37 3 89468423 89468423 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 89468423 89468423 A G SNP EPHA3 ENST00000336596 human ensembl 74_37 +1 known missense c.1957 p.K653E 1.000 pirsf_Tyr_kinase_ephrin_rcpt,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 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,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA3 HGNC ENSG00000044524 111 0 0 30 24 44.4444 EPHA3 0 genome.wustl.edu 37 3 89521697 89521697 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 89521697 89521697 C T SNP EPHA3 ENST00000336596 human ensembl 74_37 +1 known missense c.2774 p.T925I 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,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA3 HGNC ENSG00000044524 144 0 0 55 28 33.7349 BRPF1 0 genome.wustl.edu 37 3 9786044 9786044 + Missense_Mutation SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 9786044 9786044 G T SNP BRPF1 ENST00000383829 human ensembl 74_37 +1 known missense c.2772 p.Q924H 1.000 NULL pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP_dom,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP_dom,pfscan_PWWP_dom,pfscan_Znf_PHD-finger,pfscan_Znf_C2H2,pfscan_Bromodomain,prints_Bromodomain - no_errors BRPF1 HGNC ENSG00000156983 45 0 0 21 12 36.3636 DCBLD2 0 genome.wustl.edu 37 3 98568318 98568318 + Silent SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 98568318 98568318 A G SNP DCBLD2 ENST00000326857 human ensembl 74_37 -1 known silent c.558 p.V186 0.907 superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_Coagulation_fac_5/8-C_type_dom,pfam_CUB_dom,pfam_LCCL,superfamily_Galactose-bd-like,superfamily_CUB_dom,superfamily_LCCL,smart_CUB_dom,smart_LCCL,smart_Coagulation_fac_5/8-C_type_dom,pfscan_CUB_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_LCCL - no_errors DCBLD2 HGNC ENSG00000057019 109 0 0 46 24 34.2857 SLC2A9 0 genome.wustl.edu 37 4 10022957 10022957 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 10022957 10022957 G A SNP SLC2A9 ENST00000264784 human ensembl 74_37 -1 known silent c.97 p.L33 0.000 superfamily_MFS_dom_general_subst_transpt pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,tigrfam_Sugar/inositol_transpt - no_errors SLC2A9 HGNC ENSG00000109667 85 0 0 48 31 39.2405 ADH1B 0 genome.wustl.edu 37 4 100232725 100232725 + Missense_Mutation SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 100232725 100232725 G T SNP ADH1B ENST00000305046 human ensembl 74_37 -1 known missense c.917 p.P306H 0.996 pfam_ADH_C,smart_PKS_ER pfam_ADH_GroES-like,pfam_ADH_C,superfamily_GroES-like,smart_PKS_ER - no_errors ADH1B HGNC ENSG00000196616 213 0 0 107 55 33.9506 DDIT4L 0 genome.wustl.edu 37 4 101108963 101108963 + Missense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 101108963 101108963 C A SNP DDIT4L ENST00000273990 human ensembl 74_37 -1 known missense c.453 p.R151S 1.000 pfam_RTP801-like pfam_RTP801-like - no_errors DDIT4L HGNC ENSG00000145358 97 0 0 54 11 16.9231 MANBA 0 genome.wustl.edu 37 4 103553303 103553303 + Nonsense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 103553303 103553303 G A SNP MANBA ENST00000226578 human ensembl 74_37 -1 known nonsense c.2551 p.R851* 0.001 NULL pfam_Glyco_hydro_2_N,pfam_Glyco_hydro_2_TIM,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,superfamily_Glyco_hydro_2_Ig-like - no_errors MANBA HGNC ENSG00000109323 118 0 0 59 26 30.5882 TACR3 0 genome.wustl.edu 37 4 104640312 104640312 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 104640312 104640312 T C SNP TACR3 ENST00000304883 human ensembl 74_37 -1 known missense c.521 p.Y174C 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NK3_rcpt,prints_Neurokn_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_NK1_rcpt - no_errors TACR3 HGNC ENSG00000169836 56 0 0 32 16 33.3333 TACR3 0 genome.wustl.edu 37 4 104640558 104640558 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 104640558 104640558 T C SNP TACR3 ENST00000304883 human ensembl 74_37 -1 known missense c.275 p.Y92C 0.998 prints_Neurokn_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NK3_rcpt,prints_Neurokn_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_NK1_rcpt - no_errors TACR3 HGNC ENSG00000169836 108 0 0 84 35 29.4118 SEC24B 0 genome.wustl.edu 37 4 110448484 110448484 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 110448484 110448484 G A SNP SEC24B ENST00000265175 human ensembl 74_37 +1 known missense c.2972 p.R991Q 1.000 pfam_Sec23_24_beta_S pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24 - no_errors SEC24B HGNC ENSG00000138802 123 0 0 34 29 46.0317 RRH 0 genome.wustl.edu 37 4 110756617 110756617 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 110756617 110756617 C T SNP RRH ENST00000317735 human ensembl 74_37 +1 known silent c.393 p.D131 0.057 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Peropsin pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Peropsin,prints_GPCR_Rhodpsn - no_errors RRH HGNC ENSG00000180245 78 0 0 31 26 45.614 EGF 0 genome.wustl.edu 37 4 110902085 110902085 + Silent SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 110902085 110902085 A G SNP EGF ENST00000265171 human ensembl 74_37 +1 known silent c.2325 p.S775 0.045 pirsf_Pro-epidermal_GF,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom pirsf_Pro-epidermal_GF,pfam_LDLR_classB_rpt,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt - no_errors EGF HGNC ENSG00000138798 178 0 0 75 50 40 ENPEP 0 genome.wustl.edu 37 4 111398197 111398197 + Silent SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 111398197 111398197 G T SNP ENPEP ENST00000265162 human ensembl 74_37 +1 known silent c.627 p.T209 0.007 pfam_Peptidase_M1_N pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors ENPEP HGNC ENSG00000138792 75 0 0 52 27 34.1772 ALPK1 0 genome.wustl.edu 37 4 113303616 113303616 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 113303616 113303616 G A SNP ALPK1 ENST00000177648 human ensembl 74_37 +1 known missense c.184 p.V62M 1.000 NULL pfam_MHCK_EF2_kinase,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase - no_errors ALPK1 HGNC ENSG00000073331 60 0 0 45 21 31.8182 NEUROG2 0 genome.wustl.edu 37 4 113436101 113436101 + Silent SNP G G C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 113436101 113436101 G C SNP NEUROG2 ENST00000313341 human ensembl 74_37 -1 known silent c.531 p.G177 0.032 superfamily_bHLH_dom pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors NEUROG2 HGNC ENSG00000178403 31 0 0 26 6 18.75 ENSG00000249509 0 genome.wustl.edu 37 4 113436695 113436695 + RNA SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 113436695 113436695 T C SNP ENSG00000249509 ENST00000504009 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-402J6.1 Clone_based_vega_gene ENSG00000249509 20 0 0 19 12 38.7097 C4orf21 0 genome.wustl.edu 37 4 113533738 113533738 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 113533738 113533738 T C SNP C4orf21 ENST00000505019 human ensembl 74_37 -1 known missense c.2609 p.K870R 0.062 NULL pfam_DUF2439,pfam_Znf_GRF,superfamily_P-loop_NTPase - no_errors C4orf21 HGNC ENSG00000138658 46 0 0 10 10 50 HS3ST1 0 genome.wustl.edu 37 4 11401560 11401560 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 11401560 11401560 C T SNP HS3ST1 ENST00000002596 human ensembl 74_37 -1 known missense c.70 p.E24K 0.025 NULL pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors HS3ST1 HGNC ENSG00000002587 17 0 0 10 11 52.381 NDST3 0 genome.wustl.edu 37 4 119154277 119154277 + Silent SNP A A C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 119154277 119154277 A C SNP NDST3 ENST00000296499 human ensembl 74_37 +1 known silent c.1930 p.R644 1.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors NDST3 HGNC ENSG00000164100 115 0 0 30 23 43.3962 NDST3 0 genome.wustl.edu 37 4 119158200 119158200 + Splice_Site SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 119158200 119158200 G T SNP NDST3 ENST00000296499 human ensembl 74_37 +1 known splice_site c.1944-1 e9-1 1.000 - - - no_errors NDST3 HGNC ENSG00000164100 38 0 0 19 10 34.4828 PDE5A 0 genome.wustl.edu 37 4 120422378 120422378 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 120422378 120422378 T C SNP PDE5A ENST00000354960 human ensembl 74_37 -1 known missense c.2437 p.I813V 1.000 pfam_PDEase_catalytic_dom pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE5A HGNC ENSG00000138735 55 0 0 14 14 50 BBS7 0 genome.wustl.edu 37 4 122749600 122749600 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 122749600 122749600 T C SNP BBS7 ENST00000264499 human ensembl 74_37 -1 known missense c.1847 p.Q616R 1.000 pirsf_Bardet-Biedl_syndrome_7_prot superfamily_WD40_repeat_dom,pirsf_Bardet-Biedl_syndrome_7_prot - no_errors BBS7 HGNC ENSG00000138686 109 0 0 50 21 29.5775 BBS7 0 genome.wustl.edu 37 4 122782677 122782677 + Missense_Mutation SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 122782677 122782677 G T SNP BBS7 ENST00000264499 human ensembl 74_37 -1 known missense c.323 p.T108N 1.000 superfamily_WD40_repeat_dom,pirsf_Bardet-Biedl_syndrome_7_prot superfamily_WD40_repeat_dom,pirsf_Bardet-Biedl_syndrome_7_prot - no_errors BBS7 HGNC ENSG00000138686 86 0 0 36 2 5.26316 TRPC3 0 genome.wustl.edu 37 4 122853631 122853631 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 122853631 122853631 C T SNP TRPC3 ENST00000379645 human ensembl 74_37 -1 known missense c.782 p.R261Q 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPC3_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC3 HGNC ENSG00000138741 45 0 0 46 24 34.2857 BBS12 0 genome.wustl.edu 37 4 123664251 123664251 + Nonsense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 123664251 123664251 C T SNP BBS12 ENST00000314218 human ensembl 74_37 +1 known nonsense c.1204 p.Q402* 0.001 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom - no_errors BBS12 HGNC ENSG00000181004 91 0 0 20 22 52.381 PLK4 0 genome.wustl.edu 37 4 128807646 128807646 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 128807646 128807646 G A SNP PLK4 ENST00000270861 human ensembl 74_37 +1 known missense c.1121 p.R374H 0.997 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_POLO_box_duplicated_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_POLO_box_duplicated_dom,pfscan_Prot_kinase_dom - no_errors PLK4 HGNC ENSG00000142731 95 0 0 51 16 23.8806 PLK4 0 genome.wustl.edu 37 4 128815008 128815008 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 128815008 128815008 C T SNP PLK4 ENST00000270861 human ensembl 74_37 +1 known missense c.2534 p.P845L 0.018 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_POLO_box_duplicated_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_POLO_box_duplicated_dom,pfscan_Prot_kinase_dom - no_errors PLK4 HGNC ENSG00000142731 95 0 0 35 14 28.5714 PCDH10 0 genome.wustl.edu 37 4 134071764 134071764 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 134071764 134071764 C T SNP PCDH10 ENST00000264360 human ensembl 74_37 +1 known missense c.469 p.R157C 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH10 HGNC ENSG00000138650 132 0 0 61 45 42.4528 BOD1L1 0 genome.wustl.edu 37 4 13579112 13579112 + Splice_Site SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 13579112 13579112 C A SNP BOD1L1 ENST00000040738 human ensembl 74_37 -1 known splice_site c.8800-1 e24-1 1.000 - - - no_errors BOD1L1 HGNC ENSG00000038219 31 0 0 14 5 26.3158 NAA15 0 genome.wustl.edu 37 4 140281667 140281667 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 140281667 140281667 C T SNP NAA15 ENST00000296543 human ensembl 74_37 +1 known missense c.1424 p.A475V 1.000 pirsf_NatA_aux_su pfam_NatA_aux_su,smart_TPR_repeat,pirsf_NatA_aux_su,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors NAA15 HGNC ENSG00000164134 66 0 0 48 5 9.43396 TBC1D9 0 genome.wustl.edu 37 4 141545515 141545515 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 141545515 141545515 T C SNP TBC1D9 ENST00000442267 human ensembl 74_37 -1 known missense c.2927 p.Q976R 0.002 NULL 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 TBC1D9 HGNC ENSG00000109436 30 0 0 12 8 40 TBC1D9 0 genome.wustl.edu 37 4 141590886 141590886 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 141590886 141590886 G A SNP TBC1D9 ENST00000442267 human ensembl 74_37 -1 known missense c.1339 p.R447C 1.000 NULL 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 TBC1D9 HGNC ENSG00000109436 47 0 0 27 14 34.1463 HHIP 0 genome.wustl.edu 37 4 145659078 145659078 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 145659078 145659078 A G SNP HHIP ENST00000296575 human ensembl 74_37 +1 known missense c.2072 p.Y691C 1.000 NULL pfam_Folate_rcpt-like,superfamily_Quinoprot_gluc/sorb_DH,smart_EG-like_dom,pfscan_EG-like_dom - no_errors HHIP HGNC ENSG00000164161 126 0 0 51 25 32.8947 ANAPC10 0 genome.wustl.edu 37 4 145916541 145916541 + Missense_Mutation SNP T T A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 145916541 145916541 T A SNP ANAPC10 ENST00000309439 human ensembl 74_37 -1 known missense c.542 p.Y181F 1.000 pfam_APC_su10/DOC_dom,pirsf_APC_su10 pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,pirsf_APC_su10 - no_errors ANAPC10 HGNC ENSG00000164162 103 0 0 47 19 28.7879 DCLK2 0 genome.wustl.edu 37 4 151000285 151000285 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 151000285 151000285 A G SNP DCLK2 ENST00000302176 human ensembl 74_37 +1 known missense c.106 p.S36G 1.000 NULL pfam_Prot_kinase_dom,pfam_Doublecortin_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Doublecortin_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Doublecortin_dom,pfscan_Prot_kinase_dom - no_errors DCLK2 HGNC ENSG00000170390 39 0 0 9 7 43.75 FBXW7 0 genome.wustl.edu 37 4 153249384 153249384 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 153249384 153249384 C T SNP FBXW7 ENST00000281708 human ensembl 74_37 -1 known missense c.1394 p.R465H 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_F-box_dom,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW7 HGNC ENSG00000109670 229 0 0 77 55 41.6667 KIAA0922 0 genome.wustl.edu 37 4 154512227 154512227 + Nonsense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 154512227 154512227 C T SNP KIAA0922 ENST00000409959 human ensembl 74_37 +1 known nonsense c.1693 p.R565* 0.023 NULL pfam_DUF3651_TMEM131 - no_errors KIAA0922 HGNC ENSG00000121210 106 0 0 50 35 41.1765 KIAA0922 0 genome.wustl.edu 37 4 154553946 154553946 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 154553946 154553946 C T SNP KIAA0922 ENST00000409959 human ensembl 74_37 +1 known silent c.4284 p.N1428 0.043 NULL pfam_DUF3651_TMEM131 - no_errors KIAA0922 HGNC ENSG00000121210 77 0 0 36 24 40 PLRG1 0 genome.wustl.edu 37 4 155467035 155467035 + Silent SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 155467035 155467035 G T SNP PLRG1 ENST00000393905 human ensembl 74_37 -1 known silent c.445 p.R149 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors PLRG1 HGNC ENSG00000171566 43 0 0 24 4 14.2857 LRAT 0 genome.wustl.edu 37 4 155665906 155665906 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 155665906 155665906 G A SNP LRAT ENST00000336356 human ensembl 74_37 +1 known missense c.428 p.R143Q 0.027 pfam_LRAT-like_dom pfam_LRAT-like_dom - no_errors LRAT HGNC ENSG00000121207 81 0 0 69 9 11.5385 GRIA2 0 genome.wustl.edu 37 4 158142933 158142933 + Missense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 158142933 158142933 C A SNP GRIA2 ENST00000264426 human ensembl 74_37 +1 known missense c.203 p.A68E 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIA2 HGNC ENSG00000120251 90 0 0 48 11 18.6441 GRIA2 0 genome.wustl.edu 37 4 158257028 158257028 + Missense_Mutation SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 158257028 158257028 G T SNP GRIA2 ENST00000264426 human ensembl 74_37 +1 known missense c.1472 p.G491V 1.000 pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIA2 HGNC ENSG00000120251 30 0 0 18 6 25 PROM1 0 genome.wustl.edu 37 4 16020141 16020141 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 16020141 16020141 C T SNP PROM1 ENST00000447510 human ensembl 74_37 -1 known silent c.807 p.A269 0.700 pfam_Prominin pfam_Prominin - no_errors PROM1 HGNC ENSG00000007062 28 0 0 14 6 30 TRIM60 0 genome.wustl.edu 37 4 165961350 165961350 + Silent SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 165961350 165961350 A G SNP TRIM60 ENST00000341062 human ensembl 74_37 +1 known silent c.126 p.V42 0.000 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM60 HGNC ENSG00000176979 99 0 0 53 37 41.1111 TRIM60 0 genome.wustl.edu 37 4 165962586 165962586 + Silent SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 165962586 165962586 T C SNP TRIM60 ENST00000341062 human ensembl 74_37 +1 known silent c.1362 p.T454 0.267 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM60 HGNC ENSG00000176979 67 0 0 30 12 28.5714 SH3RF1 0 genome.wustl.edu 37 4 170038929 170038929 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 170038929 170038929 C T SNP SH3RF1 ENST00000284637 human ensembl 74_37 -1 known missense c.1522 p.V508M 0.867 superfamily_SH3_domain pfam_SH3_domain,pfam_SH3_2,pfam_Znf_C3HC4_RING-type,superfamily_SH3_domain,smart_Znf_RING,smart_SH3_domain,pfscan_SH3_domain,pfscan_Znf_RING,prints_p67phox,prints_SH3_domain - no_errors SH3RF1 HGNC ENSG00000154447 47 0 0 24 6 20 NEK1 0 genome.wustl.edu 37 4 170428902 170428902 + Missense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 170428902 170428902 C A SNP NEK1 ENST00000507142 human ensembl 74_37 -1 known missense c.1875 p.E625D 0.993 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK1 HGNC ENSG00000137601 47 0 0 21 5 19.2308 GALNT7 0 genome.wustl.edu 37 4 174216924 174216924 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 174216924 174216924 T C SNP GALNT7 ENST00000265000 human ensembl 74_37 +1 known missense c.895 p.Y299H 1.000 pfam_Glyco_trans_2 pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT7 HGNC ENSG00000109586 49 0 0 20 18 47.3684 HMGB2 0 genome.wustl.edu 37 4 174254316 174254316 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 174254316 174254316 T C SNP HMGB2 ENST00000296503 human ensembl 74_37 -1 known missense c.200 p.D67G 1.000 pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors HMGB2 HGNC ENSG00000164104 158 0 0 56 33 37.0787 CEP44 0 genome.wustl.edu 37 4 175224861 175224861 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 175224861 175224861 G A SNP CEP44 ENST00000426172 human ensembl 74_37 +1 known missense c.245 p.R82H 1.000 NULL NULL - no_errors CEP44 HGNC ENSG00000164118 48 0 0 19 18 48.6486 WDR17 0 genome.wustl.edu 37 4 177058747 177058747 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 177058747 177058747 A G SNP WDR17 ENST00000280190 human ensembl 74_37 +1 known missense c.1416 p.I472M 0.980 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR17 HGNC ENSG00000150627 71 0 0 15 8 34.7826 ASB5 0 genome.wustl.edu 37 4 177142697 177142697 + Missense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 177142697 177142697 C A SNP ASB5 ENST00000296525 human ensembl 74_37 -1 known missense c.439 p.G147C 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C - no_errors ASB5 HGNC ENSG00000164122 107 0 0 78 10 11.3636 TENM3 0 genome.wustl.edu 37 4 183676001 183676001 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 183676001 183676001 G A SNP TENM3 ENST00000406950 human ensembl 74_37 +1 known missense c.4481 p.R1494Q 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c-like_dom,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM3 HGNC ENSG00000218336 75 0 0 40 22 35.4839 TENM3 0 genome.wustl.edu 37 4 183713688 183713688 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 183713688 183713688 A G SNP TENM3 ENST00000406950 human ensembl 74_37 +1 known missense c.5863 p.R1955G 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c-like_dom,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM3 HGNC ENSG00000218336 118 0 0 59 31 34.4444 TENM3 0 genome.wustl.edu 37 4 183714662 183714662 + Silent SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 183714662 183714662 A G SNP TENM3 ENST00000406950 human ensembl 74_37 +1 known silent c.6837 p.G2279 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c-like_dom,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM3 HGNC ENSG00000218336 41 0 0 23 13 36.1111 DCTD 0 genome.wustl.edu 37 4 183836080 183836080 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 183836080 183836080 C T SNP DCTD ENST00000357067 human ensembl 74_37 -1 known silent c.273 p.P91 0.070 pfam_CMP_dCMP_Zn-bd,superfamily_Cytidine_deaminase-like,pirsf_dCMP_deaminase pfam_CMP_dCMP_Zn-bd,superfamily_Cytidine_deaminase-like,pirsf_dCMP_deaminase - no_errors DCTD HGNC ENSG00000129187 82 0 0 42 19 31.1475 CLDN22 0 genome.wustl.edu 37 4 184240790 184240790 + Silent SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 184240790 184240790 T C SNP CLDN22 ENST00000323319 human ensembl 74_37 -1 known silent c.582 p.L194 0.000 NULL pfam_PMP22/EMP/MP20/Claudin,prints_Claudin - no_errors CLDN22 HGNC ENSG00000177300 221 0 0 85 79 48.1707 CDKN2AIP 0 genome.wustl.edu 37 4 184367702 184367702 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 184367702 184367702 G A SNP CDKN2AIP ENST00000504169 human ensembl 74_37 +1 known missense c.865 p.E289K 0.876 NULL pfam_DUF3469,pfscan_dsRNA-bd_dom - no_errors CDKN2AIP HGNC ENSG00000168564 79 0 0 30 17 36.1702 KIAA1430 0 genome.wustl.edu 37 4 186097046 186097046 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 186097046 186097046 G A SNP KIAA1430 ENST00000296775 human ensembl 74_37 -1 known missense c.1214 p.P405L 0.998 NULL NULL - no_errors KIAA1430 HGNC ENSG00000164323 69 0 0 28 14 33.3333 MTNR1A 0 genome.wustl.edu 37 4 187455571 187455571 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 187455571 187455571 G A SNP MTNR1A ENST00000307161 human ensembl 74_37 -1 known silent c.325 p.L109 0.292 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Melatonin_rcpt,prints_GPCR_Rhodpsn,prints_Mel_1A_rcpt,prints_NPY_rcpt,prints_Mel_rcpt_1C - no_errors MTNR1A HGNC ENSG00000168412 85 0 0 63 16 20.2532 FAT1 0 genome.wustl.edu 37 4 187522471 187522471 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 187522471 187522471 C T SNP FAT1 ENST00000441802 human ensembl 74_37 -1 known silent c.11592 p.T3864 0.001 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin - no_errors FAT1 HGNC ENSG00000083857 48 0 0 38 10 20.8333 FAT1 0 genome.wustl.edu 37 4 187541543 187541543 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 187541543 187541543 A G SNP FAT1 ENST00000441802 human ensembl 74_37 -1 known missense c.6197 p.V2066A 0.354 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin - no_errors FAT1 HGNC ENSG00000083857 237 1 0.420168 105 62 37.1257 FAT1 0 genome.wustl.edu 37 4 187628340 187628340 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 187628340 187628340 C T SNP FAT1 ENST00000441802 human ensembl 74_37 -1 known missense c.2642 p.R881H 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin - no_errors FAT1 HGNC ENSG00000083857 87 0 0 82 9 9.89011 FAT1 0 genome.wustl.edu 37 4 187630439 187630439 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 187630439 187630439 G A SNP FAT1 ENST00000441802 human ensembl 74_37 -1 known silent c.543 p.N181 0.992 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin - no_errors FAT1 HGNC ENSG00000083857 168 0 0 83 69 45.3947 WHSC1 0 genome.wustl.edu 37 4 1953854 1953854 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 1953854 1953854 G A SNP WHSC1 ENST00000382891 human ensembl 74_37 +1 known missense c.2033 p.S678N 0.938 superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Znf_RING,pfscan_Znf_PHD-finger pfam_PWWP_dom,pfam_SET_dom,pfam_Znf_PHD-finger,pfam_HMG_box_dom,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_PWWP_dom,smart_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_HMG_box_dom - no_errors WHSC1 HGNC ENSG00000109685 54 0 0 35 22 38.5965 NELFA 0 genome.wustl.edu 37 4 1985736 1985736 + Missense_Mutation SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 1985736 1985736 G T SNP NELFA ENST00000382882 human ensembl 74_37 -1 known missense c.1174 p.L392M 0.023 NULL NULL - no_errors NELFA HGNC ENSG00000185049 42 0 0 31 17 35.4167 ENSG00000252616 0 genome.wustl.edu 37 4 218010 218010 + RNA SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 218010 218010 C A SNP ENSG00000252616 ENST00000516807 human ensembl 74_37 +1 novel rna NULL NULL 0.032 - - - no_errors AC079140.1 Clone_based_ensembl_gene ENSG00000252616 52 0 0 35 17 32.6923 TNIP2 0 genome.wustl.edu 37 4 2744179 2744179 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 2744179 2744179 G A SNP TNIP2 ENST00000315423 human ensembl 74_37 -1 known silent c.1095 p.D365 0.000 NULL pfam_EABR - no_errors TNIP2 HGNC ENSG00000168884 34 0 0 39 20 33.8983 RGS12 0 genome.wustl.edu 37 4 3318583 3318583 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 3318583 3318583 C T SNP RGS12 ENST00000344733 human ensembl 74_37 +1 known missense c.686 p.A229V 1.000 smart_PTB/PI_dom,pfscan_PTB/PI_dom pfam_Raf-like_ras-bd,pfam_RGS_dom,pfam_PDZ,pfam_GoLoco_motif,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_PTB/PI_dom,smart_Regulat_G_prot_signal_superfam,smart_Raf-like_ras-bd,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_PDZ,pfscan_PTB/PI_dom,pfscan_Raf-like_ras-bd,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS12 HGNC ENSG00000159788 87 0 0 68 9 11.6883 HGFAC 0 genome.wustl.edu 37 4 3445813 3445813 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 3445813 3445813 T C SNP HGFAC ENST00000382774 human ensembl 74_37 +1 known missense c.523 p.C175R 0.845 pirsf_Coagulation_fac_XIIa/HGFA,pfam_EG-like_dom,smart_EG-like_dom,pfscan_EG-like_dom pirsf_Coagulation_fac_XIIa/HGFA,pfam_Peptidase_S1,pfam_Kringle,pfam_FN_type2_col-bd,pfam_Fibronectin_type1,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,smart_EG-like_dom,smart_Fibronectin_type1,smart_Kringle,smart_Peptidase_S1,pfscan_EG-like_dom,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Kringle,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors HGFAC HGNC ENSG00000109758 54 0 0 39 26 40 HGFAC 0 genome.wustl.edu 37 4 3449321 3449321 + Silent SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 3449321 3449321 C A SNP HGFAC ENST00000382774 human ensembl 74_37 +1 known silent c.1458 p.T486 0.008 pirsf_Coagulation_fac_XIIa/HGFA,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pirsf_Coagulation_fac_XIIa/HGFA,pfam_Peptidase_S1,pfam_Kringle,pfam_FN_type2_col-bd,pfam_Fibronectin_type1,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,smart_EG-like_dom,smart_Fibronectin_type1,smart_Kringle,smart_Peptidase_S1,pfscan_EG-like_dom,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Kringle,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors HGFAC HGNC ENSG00000109758 355 0 0 238 149 38.5013 DOK7 0 genome.wustl.edu 37 4 3494869 3494869 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 3494869 3494869 T C SNP DOK7 ENST00000389653 human ensembl 74_37 +1 known missense c.1156 p.C386R 0.954 NULL pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1 - no_errors DOK7 HGNC ENSG00000175920 22 0 0 9 9 50 DOK7 0 genome.wustl.edu 37 4 3494992 3494992 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 3494992 3494992 G A SNP DOK7 ENST00000389653 human ensembl 74_37 +1 known missense c.1279 p.G427S 0.000 NULL pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1 - no_errors DOK7 HGNC ENSG00000175920 18 0 0 17 10 37.037 ARAP2 0 genome.wustl.edu 37 4 36150128 36150128 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 36150128 36150128 G A SNP ARAP2 ENST00000303965 human ensembl 74_37 -1 known missense c.2899 p.P967S 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_SAM_2,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP - no_errors ARAP2 HGNC ENSG00000047365 37 0 0 11 5 31.25 ARAP2 0 genome.wustl.edu 37 4 36179455 36179455 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 36179455 36179455 G A SNP ARAP2 ENST00000303965 human ensembl 74_37 -1 known silent c.1851 p.N617 0.890 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_SAM_2,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP - no_errors ARAP2 HGNC ENSG00000047365 121 0 0 30 23 43.3962 ARAP2 0 genome.wustl.edu 37 4 36230285 36230285 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 36230285 36230285 A G SNP ARAP2 ENST00000303965 human ensembl 74_37 -1 known missense c.824 p.V275A 1.000 NULL pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_SAM_2,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP - no_errors ARAP2 HGNC ENSG00000047365 118 0 0 41 25 37.8788 ARAP2 0 genome.wustl.edu 37 4 36230390 36230390 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 36230390 36230390 G A SNP ARAP2 ENST00000303965 human ensembl 74_37 -1 known missense c.719 p.S240L 0.004 NULL pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_SAM_2,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP - no_errors ARAP2 HGNC ENSG00000047365 129 0 0 41 31 43.0556 RELL1 0 genome.wustl.edu 37 4 37636542 37636542 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 37636542 37636542 C T SNP RELL1 ENST00000314117 human ensembl 74_37 -1 known missense c.647 p.R216H 1.000 NULL pfam_TNF_rcpt_RELT - no_errors RELL1 HGNC ENSG00000181826 87 0 0 51 34 40 KLHL5 0 genome.wustl.edu 37 4 39082728 39082728 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 39082728 39082728 T C SNP KLHL5 ENST00000359687 human ensembl 74_37 +1 known missense c.710 p.V237A 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHL5 HGNC ENSG00000109790 94 0 0 30 11 26.8293 ENSG00000253917 0 genome.wustl.edu 37 4 3949662 3949662 + RNA SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 3949662 3949662 C T SNP ENSG00000253917 ENST00000281228 human ensembl 74_37 -1 known rna NULL NULL 0.055 - - - no_errors AC226119.5 Clone_based_vega_gene ENSG00000253917 45 0 0 47 20 29.8507 PDS5A 0 genome.wustl.edu 37 4 39871063 39871063 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 39871063 39871063 C T SNP PDS5A ENST00000303538 human ensembl 74_37 -1 known missense c.2456 p.G819E 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors PDS5A HGNC ENSG00000121892 170 0 0 72 41 36.2832 PDS5A 0 genome.wustl.edu 37 4 39881446 39881446 + Missense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 39881446 39881446 C A SNP PDS5A ENST00000303538 human ensembl 74_37 -1 known missense c.1894 p.V632L 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors PDS5A HGNC ENSG00000121892 63 0 0 29 16 35.5556 PDS5A 0 genome.wustl.edu 37 4 39911885 39911885 + Missense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 39911885 39911885 C A SNP PDS5A ENST00000303538 human ensembl 74_37 -1 known missense c.1066 p.D356Y 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors PDS5A HGNC ENSG00000121892 15 0 0 4 5 55.5556 RBM47 0 genome.wustl.edu 37 4 40440329 40440329 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 40440329 40440329 G A SNP RBM47 ENST00000295971 human ensembl 74_37 -1 known silent c.582 p.R194 0.981 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac - no_errors RBM47 HGNC ENSG00000163694 101 0 0 94 7 6.93069 APBB2 0 genome.wustl.edu 37 4 41016408 41016408 + Silent SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 41016408 41016408 T C SNP APBB2 ENST00000295974 human ensembl 74_37 -1 known silent c.27 p.S9 0.490 NULL pfam_PTB/PI_dom,pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom,pfscan_WW_dom - no_errors APBB2 HGNC ENSG00000163697 37 0 0 29 12 29.2683 LIMCH1 0 genome.wustl.edu 37 4 41683053 41683053 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 41683053 41683053 A G SNP LIMCH1 ENST00000503057 human ensembl 74_37 +1 known missense c.3694 p.M1232V 0.000 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LIMCH1 HGNC ENSG00000064042 102 0 0 40 19 32.2034 TMEM33 0 genome.wustl.edu 37 4 41937506 41937506 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 41937506 41937506 C T SNP TMEM33 ENST00000325094 human ensembl 74_37 +1 known missense c.5 p.A2V 0.990 NULL pfam_UPF0121 - no_errors TMEM33 HGNC ENSG00000109133 15 0 0 10 2 16.6667 YIPF7 0 genome.wustl.edu 37 4 44624560 44624560 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 44624560 44624560 G A SNP YIPF7 ENST00000332990 human ensembl 74_37 -1 known silent c.714 p.I238 0.984 pfam_Yip1 pfam_Yip1 - no_errors YIPF7 HGNC ENSG00000177752 59 0 0 51 15 22.7273 GABRA2 0 genome.wustl.edu 37 4 46264068 46264068 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 46264068 46264068 C T SNP GABRA2 ENST00000540012 human ensembl 74_37 -1 known missense c.769 p.A257T 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa2_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRA2 HGNC ENSG00000151834 105 0 0 45 7 13.4615 NFXL1 0 genome.wustl.edu 37 4 47912972 47912972 + Missense_Mutation SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 47912972 47912972 G T SNP NFXL1 ENST00000381538 human ensembl 74_37 -1 known missense c.275 p.A92D 1.000 NULL pfam_Znf_NFX1,smart_Znf_NFX1,pfscan_Znf_RING - no_errors NFXL1 HGNC ENSG00000170448 40 0 0 14 4 22.2222 SLC10A4 0 genome.wustl.edu 37 4 48490841 48490841 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 48490841 48490841 A G SNP SLC10A4 ENST00000273861 human ensembl 74_37 +1 known missense c.1199 p.E400G 1.000 NULL pfam_BilAc/Na_symport - no_errors SLC10A4 HGNC ENSG00000145248 73 0 0 35 5 12.5 FRYL 0 genome.wustl.edu 37 4 48501413 48501413 + RNA SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 48501413 48501413 T C SNP FRYL ENST00000512810 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors FRYL HGNC ENSG00000075539 102 0 0 40 8 16.6667 FRYL 0 genome.wustl.edu 37 4 48572887 48572887 + Nonsense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 48572887 48572887 G A SNP FRYL ENST00000358350 human ensembl 74_37 -1 known nonsense c.2953 p.R985* 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FRYL HGNC ENSG00000075539 96 0 0 36 19 34.5455 MSX1 0 genome.wustl.edu 37 4 4864432 4864432 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 4864432 4864432 G A SNP MSX1 ENST00000382723 human ensembl 74_37 +1 known silent c.474 p.R158 0.999 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors MSX1 HGNC ENSG00000163132 175 1 0.568182 100 62 38.2716 PIGG 0 genome.wustl.edu 37 4 502669 502669 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 502669 502669 A G SNP PIGG ENST00000453061 human ensembl 74_37 +1 known missense c.811 p.M271V 1.000 pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors PIGG HGNC ENSG00000174227 82 0 0 25 20 44.4444 LRRC66 0 genome.wustl.edu 37 4 52861933 52861933 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 52861933 52861933 C T SNP LRRC66 ENST00000343457 human ensembl 74_37 -1 known missense c.1255 p.A419T 0.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC66 HGNC ENSG00000188993 147 0 0 56 39 41.0526 RASL11B 0 genome.wustl.edu 37 4 53731563 53731563 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 53731563 53731563 C T SNP RASL11B ENST00000248706 human ensembl 74_37 +1 known missense c.338 p.A113V 0.992 pfam_Small_GTPase,pfam_MIRO-like,pfam_Fe2_transport_prot_B_N,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_Fe2_transport_prot_B_N,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 RASL11B HGNC ENSG00000128045 99 0 0 68 5 6.84932 FIP1L1 0 genome.wustl.edu 37 4 54257305 54257305 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 54257305 54257305 C T SNP FIP1L1 ENST00000337488 human ensembl 74_37 +1 known missense c.635 p.T212M 1.000 NULL pfam_Fip1 - no_errors FIP1L1 HGNC ENSG00000145216 159 1 0.625 63 47 42.7273 PDGFRA 0 genome.wustl.edu 37 4 55139788 55139788 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 55139788 55139788 C T SNP PDGFRA ENST00000257290 human ensembl 74_37 +1 known silent c.1449 p.T483 0.599 pirsf_Tyr_kinase_CSF1/PDGF_rcpt pirsf_Tyr_kinase_CSF1/PDGF_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 - no_errors PDGFRA HGNC ENSG00000134853 122 0 0 55 26 32.0988 CEP135 0 genome.wustl.edu 37 4 56840987 56840987 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 56840987 56840987 G A SNP CEP135 ENST00000257287 human ensembl 74_37 +1 known missense c.1325 p.R442H 1.000 superfamily_EB1_C superfamily_Prefoldin,superfamily_EB1_C - no_errors CEP135 HGNC ENSG00000174799 92 0 0 50 29 36.7089 SRP72 0 genome.wustl.edu 37 4 57355575 57355575 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 57355575 57355575 T C SNP SRP72 ENST00000342756 human ensembl 74_37 +1 known missense c.1246 p.Y416H 1.000 smart_TPR_repeat pfam_Signal_recog_part_SRP72_RNA-bd,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors SRP72 HGNC ENSG00000174780 67 0 0 19 12 38.7097 POLR2B 0 genome.wustl.edu 37 4 57865857 57865857 + Silent SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 57865857 57865857 T C SNP POLR2B ENST00000314595 human ensembl 74_37 +1 known silent c.810 p.I270 0.988 pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_2 pfam_DNA-dir_RNA_pol_su2_6,pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_2,pfam_RNA_pol_Rpb2_7,pfam_RNA_pol_Rpb2_4,pfam_RNA_pol_Rpb2_3,pfam_RNA_pol_Rpb2_5 - no_errors POLR2B HGNC ENSG00000047315 83 0 0 30 24 44.4444 IGFBP7 0 genome.wustl.edu 37 4 57898658 57898658 + Nonsense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 57898658 57898658 C A SNP IGFBP7 ENST00000295666 human ensembl 74_37 -1 known nonsense c.763 p.G255* 1.000 pfam_Ig_I-set,smart_Ig_sub,pirsf_IGFBP_rP_mac25,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Kazal_dom,pfam_IGFBP-like,smart_IGFBP-like,smart_Kazal_dom,smart_Ig_sub,pirsf_IGFBP_rP_mac25,pfscan_Ig-like_dom - no_errors IGFBP7 HGNC ENSG00000163453 62 0 0 24 14 36.8421 CRMP1 0 genome.wustl.edu 37 4 5868421 5868421 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 5868421 5868421 G A SNP CRMP1 ENST00000324989 human ensembl 74_37 -1 known silent c.444 p.D148 0.996 superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors CRMP1 HGNC ENSG00000072832 102 0 0 37 32 46.3768 PDE6B 0 genome.wustl.edu 37 4 647749 647749 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 647749 647749 T C SNP PDE6B ENST00000496514 human ensembl 74_37 +1 known missense c.820 p.S274P 1.000 pfam_GAF,smart_GAF pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE6B HGNC ENSG00000133256 93 0 0 70 27 27.8351 MAN2B2 0 genome.wustl.edu 37 4 6612880 6612880 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 6612880 6612880 A G SNP MAN2B2 ENST00000285599 human ensembl 74_37 +1 known missense c.2438 p.D813G 1.000 pfam_Glyco_hydro_38_C,superfamily_Gal_mutarotase_SF_dom pfam_Glyco_hydro_38_N,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Gal_mutarotase_SF_dom,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom - no_errors MAN2B2 HGNC ENSG00000013288 65 0 0 53 25 32.0513 SYT14L 0 genome.wustl.edu 37 4 68928294 68928294 + RNA SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 68928294 68928294 A G SNP SYT14L ENST00000600441 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-35D5.1 Clone_based_vega_gene ENSG00000215127 143 0 0 64 34 34.6939 UGT2B7 0 genome.wustl.edu 37 4 69973866 69973866 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 69973866 69973866 G A SNP UGT2B7 ENST00000305231 human ensembl 74_37 +1 known missense c.1136 p.G379D 1.000 pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2B7 HGNC ENSG00000171234 184 0 0 73 56 43.4109 C4orf40 0 genome.wustl.edu 37 4 71024255 71024255 + Missense_Mutation SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 71024255 71024255 G T SNP C4orf40 ENST00000344526 human ensembl 74_37 +1 known missense c.286 p.A96S 0.001 NULL NULL - no_errors C4orf40 HGNC ENSG00000187533 254 0 0 144 50 25.7732 AMTN 0 genome.wustl.edu 37 4 71394459 71394459 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 71394459 71394459 C T SNP AMTN ENST00000339336 human ensembl 74_37 +1 known missense c.314 p.T105I 1.000 NULL NULL - no_errors AMTN HGNC ENSG00000187689 38 0 0 9 10 52.6316 GC 0 genome.wustl.edu 37 4 72634025 72634025 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 72634025 72634025 T C SNP GC ENST00000273951 human ensembl 74_37 -1 known missense c.254 p.D85G 0.997 pfam_Serum_albumin_N,superfamily_Serum_albumin-like,smart_Serum_albumin_N,prints_VitD-bd pfam_Serum_albumin_N,pfam_VitD-bind_III,superfamily_Serum_albumin-like,smart_Serum_albumin_N,prints_VitD-bd,prints_ALB/AFP/VDB - no_errors GC HGNC ENSG00000145321 34 0 0 24 7 22.5806 CCDC158 0 genome.wustl.edu 37 4 77317477 77317477 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 77317477 77317477 C T SNP CCDC158 ENST00000388914 human ensembl 74_37 -1 known missense c.233 p.R78H 1.000 NULL superfamily_Prefoldin - no_errors CCDC158 HGNC ENSG00000163749 70 0 0 21 26 55.3191 SHROOM3 0 genome.wustl.edu 37 4 77661562 77661562 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 77661562 77661562 C T SNP SHROOM3 ENST00000296043 human ensembl 74_37 +1 known missense c.2236 p.P746S 0.001 NULL pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM3 HGNC ENSG00000138771 58 0 0 32 19 37.2549 BMP2K 0 genome.wustl.edu 37 4 79832337 79832337 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 79832337 79832337 A G SNP BMP2K ENST00000335016 human ensembl 74_37 +1 known missense c.2636 p.N879S 0.116 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors BMP2K HGNC ENSG00000138756 47 0 0 30 15 33.3333 HELQ 0 genome.wustl.edu 37 4 84367172 84367172 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 84367172 84367172 G A SNP HELQ ENST00000295488 human ensembl 74_37 -1 known missense c.1460 p.T487I 0.932 pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors HELQ HGNC ENSG00000163312 104 0 0 53 4 7.01754 WDFY3 0 genome.wustl.edu 37 4 85719240 85719240 + Silent SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 85719240 85719240 A G SNP WDFY3 ENST00000295888 human ensembl 74_37 -1 known silent c.2844 p.S948 1.000 NULL pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl_sf,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY3 HGNC ENSG00000163625 90 0 0 36 23 38.9831 WDFY3 0 genome.wustl.edu 37 4 85731038 85731038 + Splice_Site SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 85731038 85731038 A G SNP WDFY3 ENST00000295888 human ensembl 74_37 -1 known splice_site c.2345+2 e11+2 1.000 - - - no_errors WDFY3 HGNC ENSG00000163625 69 0 0 31 20 39.2157 PTPN13 0 genome.wustl.edu 37 4 87637691 87637691 + Nonsense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 87637691 87637691 C T SNP PTPN13 ENST00000436978 human ensembl 74_37 +1 known nonsense c.1204 p.R402* 0.922 pirsf_Tyr_Pase_non-rcpt_typ-13 pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,superfamily_PAZ_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN13 HGNC ENSG00000163629 18 0 0 2 5 71.4286 PTPN13 0 genome.wustl.edu 37 4 87684338 87684338 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 87684338 87684338 A G SNP PTPN13 ENST00000436978 human ensembl 74_37 +1 known missense c.4012 p.K1338E 0.981 pirsf_Tyr_Pase_non-rcpt_typ-13,superfamily_PDZ pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,superfamily_PAZ_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN13 HGNC ENSG00000163629 157 0 0 66 28 29.7872 KLHL8 0 genome.wustl.edu 37 4 88091339 88091339 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 88091339 88091339 C T SNP KLHL8 ENST00000273963 human ensembl 74_37 -1 known missense c.1429 p.V477M 1.000 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_Kelch_2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL8 HGNC ENSG00000145332 97 0 0 63 6 8.69565 HMX1 0 genome.wustl.edu 37 4 8869697 8869697 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 8869697 8869697 T C SNP HMX1 ENST00000400677 human ensembl 74_37 -1 known missense c.769 p.K257E 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HMX1 HGNC ENSG00000215612 10 0 0 12 5 29.4118 MEPE 0 genome.wustl.edu 37 4 88767622 88767622 + RNA SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 88767622 88767622 T C SNP MEPE ENST00000508016 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MEPE HGNC ENSG00000152595 132 0 0 83 65 43.9189 PIGY 0 genome.wustl.edu 37 4 89442829 89442829 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 89442829 89442829 C T SNP PIGY ENST00000527353 human ensembl 74_37 -1 known missense c.112 p.A38T 0.000 NULL NULL - no_errors PIGY HGNC ENSG00000255072 55 0 0 37 11 22.9167 MMRN1 0 genome.wustl.edu 37 4 90856582 90856582 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 90856582 90856582 A G SNP MMRN1 ENST00000264790 human ensembl 74_37 +1 known missense c.1751 p.E584G 1.000 NULL pfam_C1q,pfam_EMI_domain,pfam_EG-like_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_C1q,prints_C1q,pfscan_C1q,pfscan_EG-like_dom,pfscan_EMI_domain - no_errors MMRN1 HGNC ENSG00000138722 84 0 0 36 15 29.4118 CCSER1 0 genome.wustl.edu 37 4 91229794 91229794 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 91229794 91229794 G A SNP CCSER1 ENST00000333691 human ensembl 74_37 +1 known missense c.359 p.S120N 0.998 NULL NULL - no_errors CCSER1 HGNC ENSG00000184305 57 0 0 32 20 38.4615 DGKQ 0 genome.wustl.edu 37 4 954956 954956 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 954956 954956 G A SNP DGKQ ENST00000273814 human ensembl 74_37 -1 known missense c.2608 p.R870W 1.000 pfam_Diacylglycerol_kin_accessory,smart_Diacylglycerol_kin_accessory pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Ras-assoc,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ras-assoc,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors DGKQ HGNC ENSG00000145214 44 0 0 24 24 50 PAM 0 genome.wustl.edu 37 5 102249696 102249696 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 102249696 102249696 C T SNP PAM ENST00000345721 human ensembl 74_37 +1 known missense c.269 p.A90V 0.998 NULL NULL - no_errors PAM HGNC ENSG00000145730 91 0 0 28 17 37.7778 SLC12A7 0 genome.wustl.edu 37 5 1053568 1053568 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 1053568 1053568 G A SNP SLC12A7 ENST00000264930 human ensembl 74_37 -1 known missense c.3056 p.T1019M 1.000 tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A7 HGNC ENSG00000113504 49 0 0 35 26 42.623 SLC12A7 0 genome.wustl.edu 37 5 1081759 1081759 + Silent SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 1081759 1081759 G T SNP SLC12A7 ENST00000264930 human ensembl 74_37 -1 known silent c.1230 p.P410 0.999 tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A7 HGNC ENSG00000113504 98 0 0 70 8 10.2564 EPB41L4A 0 genome.wustl.edu 37 5 111600713 111600713 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 111600713 111600713 G A SNP EPB41L4A ENST00000261486 human ensembl 74_37 -1 known missense c.434 p.S145L 1.000 pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors EPB41L4A HGNC ENSG00000129595 136 0 0 64 6 8.57143 APC 0 genome.wustl.edu 37 5 112163629 112163629 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 112163629 112163629 A G SNP APC ENST00000257430 human ensembl 74_37 +1 known missense c.1552 p.T518A 1.000 superfamily_ARM-type_fold,smart_Armadillo pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors APC HGNC ENSG00000134982 37 0 0 17 9 34.6154 ZRSR1 0 genome.wustl.edu 37 5 112227678 112227678 + Silent SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 112227678 112227678 A G SNP ZRSR1 ENST00000391338 human ensembl 74_37 +1 known silent c.342 p.E114 0.001 NULL pfam_Znf_CCCH,pfam_RRM_dom,smart_Znf_CCCH,smart_RRM_dom_euk,pfscan_RRM_dom,prints_U2_small - no_errors ZRSR1 HGNC ENSG00000212643 26 0 0 19 3 13.6364 MCC 0 genome.wustl.edu 37 5 112399736 112399736 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 112399736 112399736 C T SNP MCC ENST00000302475 human ensembl 74_37 -1 known missense c.1588 p.V530M 0.999 NULL pfam_USH1C-bd_PDZ_domain,superfamily_tRNA-bd_arm - no_errors MCC HGNC ENSG00000171444 109 0 0 53 40 43.0108 AQPEP 0 genome.wustl.edu 37 5 115319108 115319108 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 115319108 115319108 T C SNP AQPEP ENST00000357872 human ensembl 74_37 +1 known missense c.820 p.S274P 1.000 pfam_Peptidase_M1_N pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors AQPEP Uniprot_gn ENSG00000172901 85 0 0 24 17 41.4634 SEMA6A 0 genome.wustl.edu 37 5 115818188 115818188 + Missense_Mutation SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 115818188 115818188 G T SNP SEMA6A ENST00000257414 human ensembl 74_37 -1 known missense c.1046 p.P349H 1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom - no_errors SEMA6A HGNC ENSG00000092421 47 0 0 25 11 30.5556 DMXL1 0 genome.wustl.edu 37 5 118485620 118485620 + Missense_Mutation SNP T T A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 118485620 118485620 T A SNP DMXL1 ENST00000539542 human ensembl 74_37 +1 known missense c.4098 p.N1366K 0.994 pfam_Rav1p_C pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL1 HGNC ENSG00000172869 71 0 0 38 17 30.9091 CEP120 0 genome.wustl.edu 37 5 122714072 122714072 + Missense_Mutation SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 122714072 122714072 G T SNP CEP120 ENST00000306467 human ensembl 74_37 -1 known missense c.2154 p.D718E 0.996 NULL pfam_DUF3668,superfamily_C2_dom - no_errors CEP120 HGNC ENSG00000168944 118 0 0 49 28 36.3636 CSNK1G3 0 genome.wustl.edu 37 5 122926163 122926163 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 122926163 122926163 T C SNP CSNK1G3 ENST00000360683 human ensembl 74_37 +1 known missense c.901 p.Y301H 1.000 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_Casein_kinase-1_gamma_C,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 CSNK1G3 HGNC ENSG00000151292 85 0 0 28 17 37.7778 SLC6A18 0 genome.wustl.edu 37 5 1235726 1235726 + Silent SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 1235726 1235726 C A SNP SLC6A18 ENST00000324642 human ensembl 74_37 +1 known silent c.570 p.S190 0.993 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan - no_errors SLC6A18 HGNC ENSG00000164363 172 0 0 149 8 5.09554 FBN2 0 genome.wustl.edu 37 5 127641256 127641256 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 127641256 127641256 T C SNP FBN2 ENST00000262464 human ensembl 74_37 -1 known missense c.5621 p.Y1874C 1.000 pirsf_FBN,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pirsf_FBN,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors FBN2 HGNC ENSG00000138829 77 0 0 33 23 41.0714 CDC42SE2 0 genome.wustl.edu 37 5 130726771 130726771 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 130726771 130726771 C T SNP CDC42SE2 ENST00000360515 human ensembl 74_37 +1 known missense c.242 p.T81M 0.990 NULL pfam_CRIB_dom,pfscan_CRIB_dom - no_errors CDC42SE2 HGNC ENSG00000158985 80 0 0 54 22 28.9474 RAPGEF6 0 genome.wustl.edu 37 5 130782200 130782200 + Nonsense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 130782200 130782200 G A SNP RAPGEF6 ENST00000509018 human ensembl 74_37 -1 known nonsense c.3397 p.Q1133* 1.000 superfamily_Ras_GEF_dom,smart_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_PDZ,pfam_Ras-assoc,pfam_cNMP-bd_dom,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_PDZ,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ras-like_Gua-exchang_fac_N,smart_PDZ,smart_Ras-assoc,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_PDZ,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RAPGEF6 HGNC ENSG00000158987 142 1 0.699301 51 29 36.25 SLC22A5 0 genome.wustl.edu 37 5 131728210 131728210 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 131728210 131728210 C T SNP SLC22A5 ENST00000435065 human ensembl 74_37 +1 known silent c.1425 p.A475 0.069 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp - no_errors SLC22A5 HGNC ENSG00000197375 122 0 0 50 41 45.0549 RAD50 0 genome.wustl.edu 37 5 131931338 131931338 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 131931338 131931338 C T SNP RAD50 ENST00000265335 human ensembl 74_37 +1 known silent c.2043 p.C681 1.000 pfam_Rad50_Zn_hook,superfamily_P-loop_NTPase,superfamily_Prefoldin,pfscan_Zn_hook_Rad50,tigrfam_Rad50_eukaryotes pfam_Rad50_Zn_hook,superfamily_P-loop_NTPase,superfamily_Prefoldin,pfscan_Zn_hook_Rad50,tigrfam_Rad50_eukaryotes - no_errors RAD50 HGNC ENSG00000113522 94 0 0 35 29 45.3125 RAD50 0 genome.wustl.edu 37 5 131939124 131939124 + Silent SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 131939124 131939124 T C SNP RAD50 ENST00000265335 human ensembl 74_37 +1 known silent c.2340 p.P780 1.000 superfamily_P-loop_NTPase,tigrfam_Rad50_eukaryotes pfam_Rad50_Zn_hook,superfamily_P-loop_NTPase,superfamily_Prefoldin,pfscan_Zn_hook_Rad50,tigrfam_Rad50_eukaryotes - no_errors RAD50 HGNC ENSG00000113522 86 0 0 26 20 43.4783 CCNI2 0 genome.wustl.edu 37 5 132088655 132088655 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 132088655 132088655 C T SNP CCNI2 ENST00000378731 human ensembl 74_37 +1 novel missense c.1103 p.A368V 0.011 NULL pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E - no_errors CCNI2 HGNC ENSG00000205089 66 0 0 19 10 34.4828 GDF9 0 genome.wustl.edu 37 5 132197346 132197346 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 132197346 132197346 G A SNP GDF9 ENST00000296875 human ensembl 74_37 -1 known missense c.1300 p.P434S 0.914 pfam_TGF-b_C,smart_TGF-b_C pfam_TGF-b_C,smart_TGF-b_C - no_errors GDF9 HGNC ENSG00000164404 115 0 0 87 7 7.44681 PKD2L2 0 genome.wustl.edu 37 5 137230252 137230252 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 137230252 137230252 T C SNP PKD2L2 ENST00000508883 human ensembl 74_37 +1 known missense c.478 p.S160P 0.000 pfam_PKD1_2_channel pfam_PKD1_2_channel,pfam_Ion_trans_dom,prints_PKD_2 - no_errors PKD2L2 HGNC ENSG00000078795 74 0 0 25 12 32.4324 NME5 0 genome.wustl.edu 37 5 137464980 137464980 + Silent SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 137464980 137464980 A G SNP NME5 ENST00000265191 human ensembl 74_37 -1 known silent c.307 p.L103 0.461 pfam_Nucleoside_diP_kinase,superfamily_Nucleoside_diP_kinase,smart_Nucleoside_diP_kinase,pirsf_NDK_H5 pfam_Nucleoside_diP_kinase,pfam_Dpy-30_motif,superfamily_Nucleoside_diP_kinase,smart_Nucleoside_diP_kinase,pirsf_NDK_H5,prints_Nucleoside_diP_kinase - no_errors NME5 HGNC ENSG00000112981 104 0 0 43 24 35.8209 DNAH5 0 genome.wustl.edu 37 5 13753574 13753574 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 13753574 13753574 C T SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known missense c.10640 p.R3547Q 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 172 0 0 64 46 41.8182 HSPA9 0 genome.wustl.edu 37 5 137903347 137903347 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 137903347 137903347 C T SNP HSPA9 ENST00000297185 human ensembl 74_37 -1 known silent c.600 p.S200 0.391 pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam,tigrfam_Chaperone_DnaK pfam_Hsp_70_fam,pfam_MreB_Mrl,pfam_Carb_kinase_FGGY_C,prints_Hsp_70_fam,tigrfam_Chaperone_DnaK - no_errors HSPA9 HGNC ENSG00000113013 54 0 0 22 12 35.2941 SLC23A1 0 genome.wustl.edu 37 5 138715727 138715727 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 138715727 138715727 C T SNP SLC23A1 ENST00000353963 human ensembl 74_37 -1 known missense c.698 p.R233H 0.998 pfam_Xant/urac/vitC pfam_Xant/urac/vitC - no_errors SLC23A1 HGNC ENSG00000170482 33 0 0 26 10 27.7778 SLC4A9 0 genome.wustl.edu 37 5 139745425 139745425 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 139745425 139745425 G A SNP SLC4A9 ENST00000230993 human ensembl 74_37 +1 known missense c.1789 p.G597S 1.000 pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk - no_errors SLC4A9 HGNC ENSG00000113073 167 0 0 85 53 38.4058 SLC4A9 0 genome.wustl.edu 37 5 139750733 139750733 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 139750733 139750733 G A SNP SLC4A9 ENST00000230993 human ensembl 74_37 +1 known silent c.2553 p.A851 0.016 pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk - no_errors SLC4A9 HGNC ENSG00000113073 14 0 0 6 11 64.7059 APBB3 0 genome.wustl.edu 37 5 139941704 139941704 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 139941704 139941704 C T SNP APBB3 ENST00000356738 human ensembl 74_37 -1 known missense c.607 p.V203M 1.000 pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom pfam_PTB/PI_dom,pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom,pfscan_WW_dom - no_errors APBB3 HGNC ENSG00000113108 77 0 0 59 27 31.3953 HARS2 0 genome.wustl.edu 37 5 140073551 140073551 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 140073551 140073551 T C SNP HARS2 ENST00000230771 human ensembl 74_37 +1 known missense c.215 p.V72A 1.000 pirsf_HisRS/HisZ,pfscan_aa-tRNA-synth_II,tigrfam_His-tRNA-ligase pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,superfamily_Anticodon-bd,pirsf_HisRS/HisZ,pfscan_aa-tRNA-synth_II,tigrfam_His-tRNA-ligase - no_errors HARS2 HGNC ENSG00000112855 244 1 0.408163 104 68 39.5349 PCDHA1 0 genome.wustl.edu 37 5 140166895 140166895 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 140166895 140166895 G A SNP PCDHA1 ENST00000504120 human ensembl 74_37 +1 known silent c.1020 p.V340 0.000 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 PCDHA1 HGNC ENSG00000204970 113 0 0 89 10 10.101 PCDHA3 0 genome.wustl.edu 37 5 140182288 140182288 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 140182288 140182288 C T SNP PCDHA3 ENST00000522353 human ensembl 74_37 +1 known silent c.1506 p.R502 0.000 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 143 0 0 150 16 9.63855 PCDHA7 0 genome.wustl.edu 37 5 140215836 140215836 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 140215836 140215836 G A SNP PCDHA7 ENST00000525929 human ensembl 74_37 +1 known missense c.1868 p.R623H 1.000 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 PCDHA7 HGNC ENSG00000204963 157 0 0 141 52 26.943 PCDHAC2 0 genome.wustl.edu 37 5 140347507 140347507 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 140347507 140347507 G A SNP PCDHAC2 ENST00000289269 human ensembl 74_37 +1 known missense c.1156 p.V386I 0.186 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHAC2 HGNC ENSG00000243232 99 0 0 58 32 35.5556 PCDHAC2 0 genome.wustl.edu 37 5 140347896 140347896 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 140347896 140347896 G A SNP PCDHAC2 ENST00000289269 human ensembl 74_37 +1 known silent c.1545 p.G515 1.000 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 PCDHAC2 HGNC ENSG00000243232 150 0 0 47 41 46.5909 PCDHB2 0 genome.wustl.edu 37 5 140475902 140475902 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 140475902 140475902 G A SNP PCDHB2 ENST00000194155 human ensembl 74_37 +1 known missense c.1528 p.A510T 0.799 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB2 HGNC ENSG00000112852 274 0 0 190 123 39.2971 PCDHB3 0 genome.wustl.edu 37 5 140481019 140481019 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 140481019 140481019 C T SNP PCDHB3 ENST00000231130 human ensembl 74_37 +1 known silent c.786 p.V262 0.001 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB3 HGNC ENSG00000113205 138 0 0 36 42 53.8462 PCDHB3 0 genome.wustl.edu 37 5 140482199 140482199 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 140482199 140482199 G A SNP PCDHB3 ENST00000231130 human ensembl 74_37 +1 known missense c.1966 p.A656T 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB3 HGNC ENSG00000113205 172 0 0 102 41 28.6713 PCDHB5 0 genome.wustl.edu 37 5 140515726 140515726 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 140515726 140515726 A G SNP PCDHB5 ENST00000231134 human ensembl 74_37 +1 known missense c.710 p.D237G 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB5 HGNC ENSG00000113209 325 1 0.306748 190 115 37.7049 PCDHB16 0 genome.wustl.edu 37 5 140563826 140563826 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 140563826 140563826 G A SNP PCDHB16 ENST00000361016 human ensembl 74_37 +1 known silent c.1692 p.P564 0.014 superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB16 HGNC ENSG00000196963 102 0 0 115 24 17.2662 PCDHB10 0 genome.wustl.edu 37 5 140573722 140573722 + Missense_Mutation SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 140573722 140573722 G T SNP PCDHB10 ENST00000239446 human ensembl 74_37 +1 known missense c.1597 p.A533S 0.998 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB10 HGNC ENSG00000120324 253 0 0 258 44 14.5695 PCDHB10 0 genome.wustl.edu 37 5 140574355 140574355 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 140574355 140574355 G A SNP PCDHB10 ENST00000239446 human ensembl 74_37 +1 known missense c.2230 p.A744T 0.001 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB10 HGNC ENSG00000120324 213 0 0 136 43 24.0223 PCDHB14 0 genome.wustl.edu 37 5 140604455 140604455 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 140604455 140604455 G A SNP PCDHB14 ENST00000239449 human ensembl 74_37 +1 known missense c.1378 p.V460I 0.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB14 HGNC ENSG00000120327 335 0 0 191 132 40.8669 PCDHB18 0 genome.wustl.edu 37 5 140616304 140616304 + RNA SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 140616304 140616304 G T SNP PCDHB18 ENST00000526308 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors PCDHB18 HGNC ENSG00000146001 247 0 0 108 80 42.5532 PCDHGA1 0 genome.wustl.edu 37 5 140712134 140712134 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 140712134 140712134 C T SNP PCDHGA1 ENST00000517417 human ensembl 74_37 +1 known missense c.1883 p.T628M 0.999 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA1 HGNC ENSG00000204956 103 1 0.961538 57 32 35.9551 PCDHGA2 0 genome.wustl.edu 37 5 140720244 140720244 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 140720244 140720244 C T SNP PCDHGA2 ENST00000394576 human ensembl 74_37 +1 known missense c.1706 p.T569I 0.985 superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA2 HGNC ENSG00000081853 294 0 0 157 103 39.6154 PCDHGA3 0 genome.wustl.edu 37 5 140724590 140724590 + Silent SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 140724590 140724590 A G SNP PCDHGA3 ENST00000253812 human ensembl 74_37 +1 known silent c.990 p.R330 0.021 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA3 HGNC ENSG00000254245 106 1 0.934579 52 26 33.3333 PCDHGB1 0 genome.wustl.edu 37 5 140731931 140731931 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 140731931 140731931 G A SNP PCDHGB1 ENST00000523390 human ensembl 74_37 +1 known missense c.2104 p.A702T 0.003 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB1 HGNC ENSG00000254221 241 1 0.413223 191 66 25.6809 PCDHGA5 0 genome.wustl.edu 37 5 140744704 140744704 + Silent SNP A A C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 140744704 140744704 A C SNP PCDHGA5 ENST00000518069 human ensembl 74_37 +1 known silent c.807 p.P269 0.645 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA5 HGNC ENSG00000253485 95 0 0 61 40 39.604 PCDHGA8 0 genome.wustl.edu 37 5 140773186 140773186 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 140773186 140773186 C T SNP PCDHGA8 ENST00000398604 human ensembl 74_37 +1 known missense c.806 p.P269L 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA8 HGNC ENSG00000253767 137 0 0 103 37 26.4286 PCDHGA11 0 genome.wustl.edu 37 5 140801741 140801741 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 140801741 140801741 A G SNP PCDHGA11 ENST00000398587 human ensembl 74_37 +1 known missense c.947 p.Y316C 0.998 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA11 HGNC ENSG00000253873 135 0 0 56 42 42.8571 PCDHGC3 0 genome.wustl.edu 37 5 140856553 140856553 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 140856553 140856553 C T SNP PCDHGC3 ENST00000308177 human ensembl 74_37 +1 known silent c.870 p.G290 0.083 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGC3 HGNC ENSG00000240184 130 0 0 75 49 39.5161 DIAPH1 0 genome.wustl.edu 37 5 140960325 140960325 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 140960325 140960325 C T SNP DIAPH1 ENST00000253811 human ensembl 74_37 -1 known silent c.810 p.P270 0.963 superfamily_ARM-type_fold pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_Formin_homology_1,pfam_Drf_DAD,superfamily_ARM-type_fold,superfamily_tRNA-bd_arm,smart_FH2_Formin - no_errors DIAPH1 HGNC ENSG00000131504 105 0 0 51 34 40 FCHSD1 0 genome.wustl.edu 37 5 141028814 141028814 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 141028814 141028814 C T SNP FCHSD1 ENST00000435817 human ensembl 74_37 -1 known missense c.437 p.R146Q 1.000 NULL pfam_SH3_domain,pfam_SH3_2,pfam_FCH_dom,superfamily_SH3_domain,smart_FCH_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain - no_errors FCHSD1 HGNC ENSG00000197948 190 0 0 117 64 35.3591 ARAP3 0 genome.wustl.edu 37 5 141051820 141051820 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 141051820 141051820 C T SNP ARAP3 ENST00000239440 human ensembl 74_37 -1 known silent c.1434 p.L478 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_RhoGAP_dom,pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ras-assoc,pfam_SAM_2,pfam_SAM_type1,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP - no_errors ARAP3 HGNC ENSG00000120318 200 0 0 141 14 9.03226 TRIO 0 genome.wustl.edu 37 5 14291024 14291024 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 14291024 14291024 C T SNP TRIO ENST00000344204 human ensembl 74_37 +1 known missense c.740 p.P247L 1.000 smart_Spectrin/alpha-actinin pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,superfamily_Capsid/spike_ssDNA_virus,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors TRIO HGNC ENSG00000038382 76 0 0 31 18 36.7347 LPCAT1 0 genome.wustl.edu 37 5 1467001 1467001 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 1467001 1467001 T C SNP LPCAT1 ENST00000283415 human ensembl 74_37 -1 known missense c.1283 p.Y428C 0.961 NULL pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors LPCAT1 HGNC ENSG00000153395 103 0 0 57 23 28.75 LPCAT1 0 genome.wustl.edu 37 5 1477549 1477549 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 1477549 1477549 T C SNP LPCAT1 ENST00000283415 human ensembl 74_37 -1 known missense c.869 p.Y290C 0.993 NULL pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors LPCAT1 HGNC ENSG00000153395 97 0 0 54 30 35.7143 FBXO38 0 genome.wustl.edu 37 5 147807425 147807425 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 147807425 147807425 C T SNP FBXO38 ENST00000340253 human ensembl 74_37 +1 known silent c.2568 p.D856 1.000 NULL superfamily_F-box_dom - no_errors FBXO38 HGNC ENSG00000145868 52 0 0 48 11 18.6441 FBXO38 0 genome.wustl.edu 37 5 147820078 147820078 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 147820078 147820078 T C SNP FBXO38 ENST00000340253 human ensembl 74_37 +1 known missense c.3262 p.Y1088H 1.000 NULL superfamily_F-box_dom - no_errors FBXO38 HGNC ENSG00000145868 51 0 0 15 18 54.5455 PPARGC1B 0 genome.wustl.edu 37 5 149225444 149225444 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 149225444 149225444 C T SNP PPARGC1B ENST00000309241 human ensembl 74_37 +1 known missense c.2938 p.R980W 0.789 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors PPARGC1B HGNC ENSG00000155846 67 0 0 49 33 40.2439 TCOF1 0 genome.wustl.edu 37 5 149755683 149755683 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 149755683 149755683 C T SNP TCOF1 ENST00000451292 human ensembl 74_37 +1 known silent c.1932 p.C644 0.924 pfam_TCS_treacle,prints_Treacle-like_TCS pfam_TCS_treacle,smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_Treacle-like_TCS - no_errors TCOF1 HGNC ENSG00000070814 232 0 0 214 12 5.30973 LPCAT1 0 genome.wustl.edu 37 5 1501684 1501684 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 1501684 1501684 C T SNP LPCAT1 ENST00000283415 human ensembl 74_37 -1 known missense c.170 p.R57Q 1.000 NULL pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors LPCAT1 HGNC ENSG00000153395 60 0 0 53 17 24.2857 G3BP1 0 genome.wustl.edu 37 5 151179536 151179536 + Silent SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 151179536 151179536 T C SNP G3BP1 ENST00000356245 human ensembl 74_37 +1 known silent c.930 p.I310 0.994 NULL pfam_NTF2,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,pfscan_Nuclear_transport_factor_2_euk - no_errors G3BP1 HGNC ENSG00000145907 41 0 0 19 17 47.2222 HAVCR2 0 genome.wustl.edu 37 5 156535954 156535954 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 156535954 156535954 A G SNP HAVCR2 ENST00000307851 human ensembl 74_37 -1 known missense c.41 p.L14P 0.993 pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors HAVCR2 HGNC ENSG00000135077 72 0 0 41 15 26.7857 MED7 0 genome.wustl.edu 37 5 156566347 156566347 + Silent SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 156566347 156566347 G T SNP MED7 ENST00000286317 human ensembl 74_37 -1 known silent c.96 p.P32 0.991 pfam_Mediatior_Med7 pfam_Mediatior_Med7 - no_errors MED7 HGNC ENSG00000155868 83 0 0 38 22 36.6667 CYFIP2 0 genome.wustl.edu 37 5 156816338 156816338 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 156816338 156816338 G A SNP CYFIP2 ENST00000318218 human ensembl 74_37 +1 known missense c.3424 p.V1142I 1.000 pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int - no_errors CYFIP2 HGNC ENSG00000055163 46 0 0 30 23 43.3962 EBF1 0 genome.wustl.edu 37 5 158139180 158139180 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 158139180 158139180 C T SNP EBF1 ENST00000313708 human ensembl 74_37 -1 known missense c.1531 p.A511T 1.000 NULL pfam_IPT,superfamily_Ig_E-set,superfamily_bHLH_dom,smart_IPT - no_errors EBF1 HGNC ENSG00000164330 31 0 0 17 6 26.087 FABP6 0 genome.wustl.edu 37 5 159659202 159659202 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 159659202 159659202 C T SNP FABP6 ENST00000393980 human ensembl 74_37 +1 known silent c.312 p.S104 0.121 superfamily_Calycin-like superfamily_Calycin-like,prints_Fatty_acid-bd - no_errors FABP6 HGNC ENSG00000170231 29 0 0 26 11 29.7297 GABRA1 0 genome.wustl.edu 37 5 161317985 161317985 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 161317985 161317985 T C SNP GABRA1 ENST00000023897 human ensembl 74_37 +1 known missense c.785 p.I262T 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa1_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRA1 HGNC ENSG00000022355 96 0 0 60 7 10.4478 GABRA1 0 genome.wustl.edu 37 5 161322768 161322768 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 161322768 161322768 C T SNP GABRA1 ENST00000023897 human ensembl 74_37 +1 known missense c.953 p.A318V 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa1_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRA1 HGNC ENSG00000022355 116 0 0 34 21 38.1818 MYO10 0 genome.wustl.edu 37 5 16711062 16711062 + Missense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 16711062 16711062 C A SNP MYO10 ENST00000513610 human ensembl 74_37 -1 known missense c.2124 p.Q708H 0.979 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_Pleckstrin_homology,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_Ras-assoc,superfamily_P-loop_NTPase,superfamily_FERM_central,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology,prints_Myosin_head_motor_dom - no_errors MYO10 HGNC ENSG00000145555 38 0 0 31 2 6.06061 WWC1 0 genome.wustl.edu 37 5 167812369 167812369 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 167812369 167812369 A G SNP WWC1 ENST00000265293 human ensembl 74_37 +1 known missense c.383 p.Y128C 1.000 NULL pfam_WW_dom,superfamily_C2_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom - no_errors WWC1 HGNC ENSG00000113645 73 0 0 60 31 34.0659 STK10 0 genome.wustl.edu 37 5 171523526 171523526 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 171523526 171523526 C T SNP STK10 ENST00000176763 human ensembl 74_37 -1 known silent c.909 p.L303 0.888 superfamily_Kinase-like_dom pfam_PKK,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 STK10 HGNC ENSG00000072786 174 0 0 97 64 39.7516 UBTD2 0 genome.wustl.edu 37 5 171661162 171661162 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 171661162 171661162 C T SNP UBTD2 ENST00000393792 human ensembl 74_37 -1 known missense c.271 p.A91T 1.000 NULL pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,pfscan_Ubiquitin_supergroup - no_errors UBTD2 HGNC ENSG00000168246 113 0 0 45 19 29.6875 DUSP1 0 genome.wustl.edu 37 5 172196764 172196764 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 172196764 172196764 G A SNP DUSP1 ENST00000239223 human ensembl 74_37 -1 known silent c.547 p.L183 1.000 pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pirsf_MKP,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pirsf_MKP,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP,prints_Atypical_DUSP - no_errors DUSP1 HGNC ENSG00000120129 63 0 0 53 5 8.62069 NKX2-5 0 genome.wustl.edu 37 5 172661785 172661785 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 172661785 172661785 T C SNP NKX2-5 ENST00000329198 human ensembl 74_37 -1 known missense c.302 p.D101G 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors NKX2-5 HGNC ENSG00000183072 39 0 0 19 13 40.625 CPEB4 0 genome.wustl.edu 37 5 173378896 173378896 + Nonsense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 173378896 173378896 C T SNP CPEB4 ENST00000265085 human ensembl 74_37 +1 known nonsense c.1735 p.R579* 0.995 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CPEB4 HGNC ENSG00000113742 70 0 0 28 8 22.2222 RNF44 0 genome.wustl.edu 37 5 175959073 175959073 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 175959073 175959073 C T SNP RNF44 ENST00000274811 human ensembl 74_37 -1 known missense c.229 p.G77S 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF44 HGNC ENSG00000146083 24 0 0 33 11 25 FGFR4 0 genome.wustl.edu 37 5 176520461 176520461 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 176520461 176520461 G A SNP FGFR4 ENST00000292408 human ensembl 74_37 +1 known missense c.1306 p.V436M 0.993 pirsf_FGF_rcpt_fam pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors FGFR4 HGNC ENSG00000160867 170 0 0 84 56 40 GRK6 0 genome.wustl.edu 37 5 176857878 176857878 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 176857878 176857878 G A SNP GRK6 ENST00000528793 human ensembl 74_37 +1 known missense c.58 p.G20S 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RGS_dom,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Regulat_G_prot_signal_superfam,pfscan_Prot_kinase_dom,prints_GPCR_kinase - no_errors GRK6 HGNC ENSG00000198055 40 0 0 53 4 7.01754 PDLIM7 0 genome.wustl.edu 37 5 176915118 176915118 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 176915118 176915118 T C SNP PDLIM7 ENST00000355841 human ensembl 74_37 -1 known missense c.1001 p.D334G 0.997 pfscan_Znf_LIM pfam_Znf_LIM,pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ - no_errors PDLIM7 HGNC ENSG00000196923 114 0 0 69 46 40 PDLIM7 0 genome.wustl.edu 37 5 176918070 176918070 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 176918070 176918070 G A SNP PDLIM7 ENST00000355841 human ensembl 74_37 -1 known missense c.476 p.P159L 0.999 NULL pfam_Znf_LIM,pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ - no_errors PDLIM7 HGNC ENSG00000196923 28 0 0 17 7 29.1667 B4GALT7 0 genome.wustl.edu 37 5 177034445 177034445 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 177034445 177034445 G A SNP B4GALT7 ENST00000029410 human ensembl 74_37 +1 known missense c.556 p.A186T 1.000 pfam_Galactosyl_T_C pfam_Galactosyl_T_C,prints_Galactosyl_T - no_errors B4GALT7 HGNC ENSG00000027847 104 0 0 44 39 46.988 FAM153A 0 genome.wustl.edu 37 5 177175650 177175650 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 177175650 177175650 C T SNP FAM153A ENST00000515787 human ensembl 74_37 -1 known missense c.82 p.V28I 0.000 NULL NULL - no_errors FAM153A HGNC ENSG00000170074 76 0 0 36 6 14.2857 CLK4 0 genome.wustl.edu 37 5 178045622 178045622 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 178045622 178045622 G A SNP CLK4 ENST00000316308 human ensembl 74_37 -1 known missense c.319 p.R107C 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CLK4 HGNC ENSG00000113240 166 0 0 86 43 33.3333 GRM6 0 genome.wustl.edu 37 5 178416065 178416065 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 178416065 178416065 A G SNP GRM6 ENST00000231188 human ensembl 74_37 -1 known missense c.1225 p.Y409H 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_6,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4 - no_errors GRM6 HGNC ENSG00000113262 43 0 0 31 4 11.4286 ADAMTS2 0 genome.wustl.edu 37 5 178585754 178585754 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 178585754 178585754 G A SNP ADAMTS2 ENST00000251582 human ensembl 74_37 -1 known missense c.1102 p.R368W 0.139 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS2,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS2 HGNC ENSG00000087116 140 0 0 92 31 25.2033 MGAT4B 0 genome.wustl.edu 37 5 179226267 179226267 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 179226267 179226267 T C SNP MGAT4B ENST00000337755 human ensembl 74_37 -1 known missense c.1130 p.K377R 1.000 pfam_Glyco_transf_54 pfam_Glyco_transf_54 - no_errors MGAT4B HGNC ENSG00000161013 51 0 0 36 21 36.8421 RASGEF1C 0 genome.wustl.edu 37 5 179555581 179555581 + Silent SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 179555581 179555581 T C SNP RASGEF1C ENST00000361132 human ensembl 74_37 -1 known silent c.468 p.L156 0.998 superfamily_Ras_GEF_dom,pfscan_Ras-like_Gua-exchang_fac_N pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGEF1C HGNC ENSG00000146090 52 0 0 51 5 8.92857 RASGEF1C 0 genome.wustl.edu 37 5 179555592 179555592 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 179555592 179555592 G A SNP RASGEF1C ENST00000361132 human ensembl 74_37 -1 known missense c.457 p.H153Y 0.998 superfamily_Ras_GEF_dom,pfscan_Ras-like_Gua-exchang_fac_N pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGEF1C HGNC ENSG00000146090 45 0 0 32 22 40.7407 GFPT2 0 genome.wustl.edu 37 5 179731781 179731781 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 179731781 179731781 C T SNP GFPT2 ENST00000253778 human ensembl 74_37 -1 known silent c.1833 p.T611 0.001 pfam_SIS,tigrfam_GlmS_trans pfam_SIS,pfam_GATase_dom,tigrfam_GlmS_trans - no_errors GFPT2 HGNC ENSG00000131459 225 0 0 217 20 8.43882 FLT4 0 genome.wustl.edu 37 5 180048800 180048800 + Missense_Mutation SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 180048800 180048800 G T SNP FLT4 ENST00000261937 human ensembl 74_37 -1 known missense c.1762 p.L588M 1.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom 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 117 0 0 55 55 50 CDH12 0 genome.wustl.edu 37 5 21802400 21802400 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 21802400 21802400 C T SNP CDH12 ENST00000382254 human ensembl 74_37 -1 known missense c.1132 p.V378I 0.993 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH12 HGNC ENSG00000154162 50 0 0 42 15 26.3158 PRDM9 0 genome.wustl.edu 37 5 23522902 23522902 + Missense_Mutation SNP G G C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 23522902 23522902 G C SNP PRDM9 ENST00000296682 human ensembl 74_37 +1 known missense c.790 p.A264P 0.322 NULL 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 84 0 0 56 28 33.3333 DROSHA 0 genome.wustl.edu 37 5 31511219 31511219 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 31511219 31511219 A G SNP DROSHA ENST00000344624 human ensembl 74_37 -1 known missense c.1355 p.L452S 0.993 NULL pfam_RNase_III_dom,pfam_dsRNA-bd_dom,superfamily_RNase_III_dom,smart_RNase_III_dom,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom,pfscan_RNase_III_dom - no_errors DROSHA HGNC ENSG00000113360 53 0 0 38 16 29.6296 TARS 0 genome.wustl.edu 37 5 33456256 33456256 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 33456256 33456256 G A SNP TARS ENST00000265112 human ensembl 74_37 +1 known missense c.761 p.C254Y 1.000 pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,smart_tRNA_SAD,tigrfam_Thr-tRNA-ligase_IIa pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tRNA_SAD,prints_Thr-tRNA-ligase_IIa,pfscan_aa-tRNA-synth_II,tigrfam_Thr-tRNA-ligase_IIa - no_errors TARS HGNC ENSG00000113407 42 0 0 12 9 42.8571 RXFP3 0 genome.wustl.edu 37 5 33938173 33938173 + Missense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 33938173 33938173 C A SNP RXFP3 ENST00000330120 human ensembl 74_37 +1 known missense c.1328 p.P443Q 1.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Formyl_pep_rcpt - no_errors RXFP3 HGNC ENSG00000182631 67 0 0 41 23 35.9375 AMACR 0 genome.wustl.edu 37 5 34005900 34005900 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 34005900 34005900 G A SNP AMACR ENST00000335606 human ensembl 74_37 -1 known missense c.352 p.R118W 0.000 pfam_CoA-Trfase_fam_III,superfamily_CoA-Trfase_III_dom pfam_CoA-Trfase_fam_III,superfamily_CoA-Trfase_III_dom - no_errors AMACR HGNC ENSG00000242110 62 0 0 36 22 37.931 C1QTNF3 0 genome.wustl.edu 37 5 34020736 34020736 + Missense_Mutation SNP G G C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 34020736 34020736 G C SNP C1QTNF3 ENST00000382065 human ensembl 74_37 -1 known missense c.912 p.H304Q 0.999 pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QTNF3 HGNC ENSG00000082196 176 0 0 78 49 38.5827 RAI14 0 genome.wustl.edu 37 5 34823970 34823970 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 34823970 34823970 T C SNP RAI14 ENST00000515799 human ensembl 74_37 +1 known missense c.2032 p.Y678H 0.753 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_t-SNARE,superfamily_UBA-like,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors RAI14 HGNC ENSG00000039560 70 0 0 41 25 37.8788 PRLR 0 genome.wustl.edu 37 5 35086328 35086328 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 35086328 35086328 A G SNP PRLR ENST00000382002 human ensembl 74_37 -1 known missense c.185 p.L62P 0.412 pfam_Growth/epo_recpt_lig-bind,pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Growth/epo_recpt_lig-bind,pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors PRLR HGNC ENSG00000113494 97 0 0 40 21 34.4262 NIPBL 0 genome.wustl.edu 37 5 36953835 36953835 + Missense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 36953835 36953835 C A SNP NIPBL ENST00000282516 human ensembl 74_37 +1 known missense c.37 p.L13I 1.000 NULL superfamily_ARM-type_fold - no_errors NIPBL HGNC ENSG00000164190 114 0 0 55 12 17.9104 C5orf42 0 genome.wustl.edu 37 5 37183564 37183564 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 37183564 37183564 G A SNP C5orf42 ENST00000425232 human ensembl 74_37 -1 known silent c.4719 p.D1573 0.812 NULL superfamily_Quino_amine_DH_bsu - no_errors C5orf42 HGNC ENSG00000197603 45 0 0 22 13 37.1429 C5orf42 0 genome.wustl.edu 37 5 37183688 37183688 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 37183688 37183688 T C SNP C5orf42 ENST00000425232 human ensembl 74_37 -1 known missense c.4595 p.Q1532R 0.118 NULL superfamily_Quino_amine_DH_bsu - no_errors C5orf42 HGNC ENSG00000197603 51 0 0 27 19 41.3043 WDR70 0 genome.wustl.edu 37 5 37697794 37697794 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 37697794 37697794 C T SNP WDR70 ENST00000265107 human ensembl 74_37 +1 known missense c.1130 p.S377L 0.271 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR70 HGNC ENSG00000082068 124 0 0 66 13 16.4557 LIFR 0 genome.wustl.edu 37 5 38506647 38506647 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 38506647 38506647 G A SNP LIFR ENST00000263409 human ensembl 74_37 -1 known missense c.1079 p.A360V 0.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors LIFR HGNC ENSG00000113594 74 0 0 36 18 33.3333 C9 0 genome.wustl.edu 37 5 39341309 39341309 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 39341309 39341309 G A SNP C9 ENST00000263408 human ensembl 74_37 -1 known missense c.415 p.R139C 0.510 superfamily_LDrepeatLR_classA_rpt pfam_MACPF,pfam_LDrepeatLR_classA_rpt,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,prints_MAC_perforin,pfscan_LDrepeatLR_classA_rpt,pfscan_Thrombospondin_1_rpt - no_errors C9 HGNC ENSG00000113600 119 0 0 47 24 33.8028 ZNF131 0 genome.wustl.edu 37 5 43174664 43174664 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 43174664 43174664 A G SNP ZNF131 ENST00000399534 human ensembl 74_37 +1 known missense c.1301 p.E434G 1.000 smart_Znf_C2H2-like pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZNF131 HGNC ENSG00000172262 95 0 0 49 31 38.75 C5orf34 0 genome.wustl.edu 37 5 43505850 43505850 + Missense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 43505850 43505850 C A SNP C5orf34 ENST00000306862 human ensembl 74_37 -1 known missense c.932 p.R311M 1.000 NULL NULL - no_errors C5orf34 HGNC ENSG00000172244 97 0 0 58 6 9.375 HCN1 0 genome.wustl.edu 37 5 45262085 45262085 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 45262085 45262085 A G SNP HCN1 ENST00000303230 human ensembl 74_37 -1 known missense c.2611 p.S871P 0.126 NULL pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG - no_errors HCN1 HGNC ENSG00000164588 156 0 0 57 50 46.729 HCN1 0 genome.wustl.edu 37 5 45262174 45262174 + Missense_Mutation SNP A A T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 45262174 45262174 A T SNP HCN1 ENST00000303230 human ensembl 74_37 -1 known missense c.2522 p.L841H 1.000 NULL pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG - no_errors HCN1 HGNC ENSG00000164588 107 0 0 49 33 40.2439 HCN1 0 genome.wustl.edu 37 5 45262506 45262506 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 45262506 45262506 C T SNP HCN1 ENST00000303230 human ensembl 74_37 -1 known missense c.2190 p.M730I 1.000 NULL pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG - no_errors HCN1 HGNC ENSG00000164588 34 0 0 35 7 16.6667 PARP8 0 genome.wustl.edu 37 5 50090765 50090765 + Silent SNP G G C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 50090765 50090765 G C SNP PARP8 ENST00000281631 human ensembl 74_37 +1 known silent c.942 p.T314 0.051 NULL pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP8 HGNC ENSG00000151883 65 0 0 41 27 39.7059 FST 0 genome.wustl.edu 37 5 52779453 52779453 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 52779453 52779453 G A SNP FST ENST00000256759 human ensembl 74_37 +1 known missense c.397 p.G133R 1.000 pfam_Kazal_dom,smart_Kazal_dom pfam_Kazal_dom,pfam_Follistatin/Osteonectin_EGF,superfamily_TB_dom,smart_Fol_N,smart_Kazal_dom - no_errors FST HGNC ENSG00000134363 66 0 0 39 29 42.6471 SNX18 0 genome.wustl.edu 37 5 53815133 53815133 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 53815133 53815133 G A SNP SNX18 ENST00000326277 human ensembl 74_37 +1 known missense c.1351 p.E451K 1.000 pfam_Sorting_nexin_WASP-bd-dom,pirsf_Snx9 pfam_Sorting_nexin_WASP-bd-dom,pfam_Phox,pfam_SH3_domain,pfam_SH3_2,superfamily_Phox,superfamily_SH3_domain,smart_SH3_domain,smart_Phox,pirsf_Snx9,pfscan_Phox,pfscan_SH3_domain - no_errors SNX18 HGNC ENSG00000178996 80 0 0 80 6 6.97674 IL31RA 0 genome.wustl.edu 37 5 55185844 55185844 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 55185844 55185844 A G SNP IL31RA ENST00000447346 human ensembl 74_37 +1 known missense c.653 p.Y218C 0.938 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL31RA HGNC ENSG00000164509 63 0 0 68 6 8.10811 ANKRD55 0 genome.wustl.edu 37 5 55455711 55455711 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 55455711 55455711 C T SNP ANKRD55 ENST00000341048 human ensembl 74_37 -1 known silent c.432 p.T144 0.760 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD55 HGNC ENSG00000164512 86 0 0 35 25 41.6667 PLK2 0 genome.wustl.edu 37 5 57753397 57753397 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 57753397 57753397 T C SNP PLK2 ENST00000274289 human ensembl 74_37 -1 known missense c.727 p.T243A 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_POLO_box_duplicated_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_POLO_box_duplicated_dom,pfscan_Prot_kinase_dom - no_errors PLK2 HGNC ENSG00000145632 75 0 0 22 9 29.0323 RAB3C 0 genome.wustl.edu 37 5 58147175 58147175 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 58147175 58147175 C T SNP RAB3C ENST00000282878 human ensembl 74_37 +1 known silent c.681 p.C227 0.998 superfamily_P-loop_NTPase,smart_Ran_GTPase pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,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 RAB3C HGNC ENSG00000152932 66 0 0 58 11 15.942 DEPDC1B 0 genome.wustl.edu 37 5 59982907 59982907 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 59982907 59982907 C T SNP DEPDC1B ENST00000265036 human ensembl 74_37 -1 known missense c.196 p.E66K 0.992 pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom pfam_DEP_dom,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_DEP_dom,pfscan_DEP_dom,pfscan_RhoGAP_dom - no_errors DEPDC1B HGNC ENSG00000035499 179 0 0 73 46 38.6555 ADAMTS6 0 genome.wustl.edu 37 5 64520823 64520823 + Nonsense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 64520823 64520823 G A SNP ADAMTS6 ENST00000381055 human ensembl 74_37 -1 known nonsense c.2119 p.R707* 1.000 prints_Peptidase_M12B_ADAM-TS pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B - no_errors ADAMTS6 HGNC ENSG00000049192 49 0 0 24 13 35.1351 MAST4 0 genome.wustl.edu 37 5 66460174 66460174 + Missense_Mutation SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 66460174 66460174 G T SNP MAST4 ENST00000404260 human ensembl 74_37 +1 known missense c.5176 p.V1726F 0.000 NULL pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom - no_errors MAST4 HGNC ENSG00000069020 47 0 0 20 10 33.3333 OCLN 0 genome.wustl.edu 37 5 68805476 68805476 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 68805476 68805476 T C SNP OCLN ENST00000355237 human ensembl 74_37 +1 known missense c.559 p.F187L 1.000 pfam_Marvel,pirsf_Occludin pfam_Occludin_RNApol2_elong_fac_ELL,pfam_Marvel,pirsf_Occludin,prints_Occludin - no_errors OCLN HGNC ENSG00000197822 275 0 0 91 61 40.1316 BDP1 0 genome.wustl.edu 37 5 70751890 70751890 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 70751890 70751890 G A SNP BDP1 ENST00000358731 human ensembl 74_37 +1 known silent c.186 p.E62 0.217 NULL superfamily_Homeodomain-like,smart_SANT/Myb - no_errors BDP1 HGNC ENSG00000145734 42 0 0 24 6 20 ZNF366 0 genome.wustl.edu 37 5 71740012 71740012 + Silent SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 71740012 71740012 C A SNP ZNF366 ENST00000318442 human ensembl 74_37 -1 known silent c.1806 p.P602 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF366 HGNC ENSG00000178175 148 0 0 109 12 9.91736 TNPO1 0 genome.wustl.edu 37 5 72171563 72171563 + Missense_Mutation SNP A A C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 72171563 72171563 A C SNP TNPO1 ENST00000337273 human ensembl 74_37 +1 known missense c.800 p.E267A 1.000 superfamily_ARM-type_fold pfam_HEAT,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors TNPO1 HGNC ENSG00000083312 89 0 0 48 32 40 TNPO1 0 genome.wustl.edu 37 5 72201192 72201192 + Silent SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 72201192 72201192 T C SNP TNPO1 ENST00000337273 human ensembl 74_37 +1 known silent c.2652 p.F884 1.000 superfamily_ARM-type_fold pfam_HEAT,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors TNPO1 HGNC ENSG00000083312 124 0 0 46 30 39.4737 TMEM174 0 genome.wustl.edu 37 5 72469088 72469088 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 72469088 72469088 C T SNP TMEM174 ENST00000296776 human ensembl 74_37 +1 known silent c.18 p.G6 0.188 NULL NULL - no_errors TMEM174 HGNC ENSG00000164325 256 0 0 97 75 43.6047 HMGCR 0 genome.wustl.edu 37 5 74655258 74655258 + Silent SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 74655258 74655258 T C SNP HMGCR ENST00000287936 human ensembl 74_37 +1 known silent c.2334 p.I778 1.000 pfam_HMG_CoA_Rdtase,superfamily_HMG_CoA_Rdtase_sub-bd,pfscan_HMG_CoA_Rdtase,tigrfam_HMG_CoA_Rdtase_metazoan,tigrfam_HMG_CoA_Rdtase_eu_arc pfam_HMG_CoA_Rdtase,pfam_Patched,superfamily_HMG_CoA_Rdtase_sub-bd,superfamily_HMG_CoA_Rdtase_NAD(P)-bd,pfscan_SSD,pfscan_HMG_CoA_Rdtase,prints_HMG_CoA_Rdtase,tigrfam_HMG_CoA_Rdtase_metazoan,tigrfam_HMG_CoA_Rdtase_eu_arc - no_errors HMGCR HGNC ENSG00000113161 79 0 0 26 23 46.9388 COL4A3BP 0 genome.wustl.edu 37 5 74722269 74722269 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 74722269 74722269 C T SNP COL4A3BP ENST00000380494 human ensembl 74_37 -1 known missense c.767 p.R256H 1.000 NULL pfam_START_lipid-bd_dom,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_START_lipid-bd_dom,pfscan_Pleckstrin_homology,pfscan_START_lipid-bd_dom - no_errors COL4A3BP HGNC ENSG00000113163 83 0 0 50 18 26.4706 ZDHHC11B 0 genome.wustl.edu 37 5 751277 751277 + Missense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 751277 751277 C A SNP ZDHHC11B ENST00000382776 human ensembl 74_37 -1 known missense c.599 p.R200M 0.000 NULL pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC11B HGNC ENSG00000206077 42 0 0 33 20 37.7358 F2RL2 0 genome.wustl.edu 37 5 75913673 75913673 + Silent SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 75913673 75913673 G T SNP F2RL2 ENST00000296641 human ensembl 74_37 -1 known silent c.859 p.R287 0.023 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Prot_act_rcpt_3,prints_GPCR_Rhodpsn,prints_Protea_act_rcpt - no_errors F2RL2 HGNC ENSG00000164220 28 0 0 21 5 19.2308 VCAN 0 genome.wustl.edu 37 5 82834774 82834774 + Silent SNP T T G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 82834774 82834774 T G SNP VCAN ENST00000265077 human ensembl 74_37 +1 known silent c.5952 p.S1984 0.118 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link - no_errors VCAN HGNC ENSG00000038427 64 0 0 51 5 8.92857 EDIL3 0 genome.wustl.edu 37 5 83680139 83680139 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 83680139 83680139 G A SNP EDIL3 ENST00000296591 human ensembl 74_37 -1 known silent c.54 p.P18 0.672 NULL pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,pfam_EGF_extracell,superfamily_Galactose-bd-like,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Coagulation_fac_5/8-C_type_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors EDIL3 HGNC ENSG00000164176 106 0 0 111 13 10.4839 POU5F2 0 genome.wustl.edu 37 5 93076928 93076928 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 93076928 93076928 C T SNP POU5F2 ENST00000510627 human ensembl 74_37 -1 known silent c.342 p.P114 0.011 NULL pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU5F2 HGNC ENSG00000248483 74 0 0 44 13 22.807 FAM172A 0 genome.wustl.edu 37 5 93217235 93217235 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 93217235 93217235 A G SNP FAM172A ENST00000395965 human ensembl 74_37 -1 known missense c.727 p.F243L 1.000 NULL pfam_Arb2_domain - no_errors FAM172A HGNC ENSG00000113391 126 0 0 40 28 41.1765 RHOBTB3 0 genome.wustl.edu 37 5 95116060 95116060 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 95116060 95116060 G A SNP RHOBTB3 ENST00000379982 human ensembl 74_37 +1 known missense c.1387 p.V463I 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,pfam_Small_GTPase,superfamily_BTB/POZ_fold,superfamily_P-loop_NTPase,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors RHOBTB3 HGNC ENSG00000164292 81 0 0 22 20 47.619 PCSK1 0 genome.wustl.edu 37 5 95746544 95746544 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 95746544 95746544 G A SNP PCSK1 ENST00000311106 human ensembl 74_37 -1 known silent c.1029 p.Y343 0.218 pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,pfam_Proho_convert,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK1 HGNC ENSG00000175426 198 0 0 111 79 41.5789 PCSK1 0 genome.wustl.edu 37 5 95768714 95768714 + Silent SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 95768714 95768714 A G SNP PCSK1 ENST00000311106 human ensembl 74_37 -1 known silent c.33 p.T11 0.011 NULL pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,pfam_Proho_convert,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK1 HGNC ENSG00000175426 200 0 0 149 62 29.3839 FAM174A 0 genome.wustl.edu 37 5 99871377 99871377 + Missense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 99871377 99871377 C A SNP FAM174A ENST00000312637 human ensembl 74_37 +1 known missense c.143 p.P48H 0.000 pfam_DUF1180 pfam_DUF1180 - no_errors FAM174A HGNC ENSG00000174132 55 0 0 25 19 43.1818 TFAP2A 0 genome.wustl.edu 37 6 10398771 10398771 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 10398771 10398771 A G SNP TFAP2A ENST00000379604 human ensembl 74_37 -1 known missense c.1193 p.L398P 1.000 pfam_TF_AP2_C pfam_TF_AP2_C,prints_TF_AP2_C,prints_TF_AP2_alpha_N - no_errors TFAP2A HGNC ENSG00000137203 394 0 0 257 184 41.7234 BEND3 0 genome.wustl.edu 37 6 107390110 107390110 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 107390110 107390110 T C SNP BEND3 ENST00000369042 human ensembl 74_37 -1 known missense c.2285 p.N762S 1.000 pfam_BEN_domain pfam_BEN_domain - no_errors BEND3 HGNC ENSG00000178409 94 0 0 53 42 44.2105 BEND3 0 genome.wustl.edu 37 6 107390608 107390608 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 107390608 107390608 T C SNP BEND3 ENST00000369042 human ensembl 74_37 -1 known missense c.1787 p.N596S 1.000 pfam_BEN_domain pfam_BEN_domain - no_errors BEND3 HGNC ENSG00000178409 68 0 0 26 28 51.8519 SCML4 0 genome.wustl.edu 37 6 108066261 108066261 + Missense_Mutation SNP G G C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 108066261 108066261 G C SNP SCML4 ENST00000369021 human ensembl 74_37 -1 known missense c.487 p.L163V 1.000 pfam_DUF3588 pfam_DUF3588 - no_errors SCML4 HGNC ENSG00000146285 37 0 0 24 17 41.4634 MICAL1 0 genome.wustl.edu 37 6 109774467 109774467 + Missense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 109774467 109774467 C A SNP MICAL1 ENST00000368952 human ensembl 74_37 -1 known missense c.627 p.K209N 1.000 NULL pfam_DUF3585,pfam_CH-domain,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM - no_errors MICAL1 HGNC ENSG00000135596 67 0 0 35 11 23.913 ZBTB24 0 genome.wustl.edu 37 6 109802745 109802745 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 109802745 109802745 C T SNP ZBTB24 ENST00000230122 human ensembl 74_37 -1 known missense c.485 p.R162Q 1.000 NULL pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB24 HGNC ENSG00000112365 254 0 0 87 58 40 AK9 0 genome.wustl.edu 37 6 109983847 109983847 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 109983847 109983847 T C SNP AK9 ENST00000424296 human ensembl 74_37 -1 known missense c.351 p.I117M 0.750 pfam_Adenylate_kin,superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_Adenylate_kin,pfam_YHS_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors AK9 HGNC ENSG00000155085 108 0 0 39 25 39.0625 WASF1 0 genome.wustl.edu 37 6 110423373 110423373 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 110423373 110423373 C T SNP WASF1 ENST00000359451 human ensembl 74_37 -1 known missense c.940 p.G314S 1.000 NULL pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors WASF1 HGNC ENSG00000112290 148 0 0 87 30 25.641 GTF3C6 0 genome.wustl.edu 37 6 111288882 111288882 + Silent SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 111288882 111288882 T C SNP GTF3C6 ENST00000329970 human ensembl 74_37 +1 known silent c.531 p.S177 0.000 NULL pfam_TFIIIC_tau55-rel - no_errors GTF3C6 HGNC ENSG00000155115 117 0 0 56 35 38.4615 REV3L 0 genome.wustl.edu 37 6 111697073 111697073 + Silent SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 111697073 111697073 G T SNP REV3L ENST00000358835 human ensembl 74_37 -1 known silent c.2485 p.R829 1.000 superfamily_RNaseH-like_dom pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B - no_errors REV3L HGNC ENSG00000009413 73 0 0 16 11 40.7407 TRAF3IP2 0 genome.wustl.edu 37 6 111884186 111884186 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 111884186 111884186 G A SNP TRAF3IP2 ENST00000340026 human ensembl 74_37 -1 known silent c.1560 p.L520 1.000 pfam_SEFIR pfam_SEFIR - no_errors TRAF3IP2 HGNC ENSG00000056972 28 0 0 9 8 47.0588 TUBE1 0 genome.wustl.edu 37 6 112397371 112397371 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 112397371 112397371 T C SNP TUBE1 ENST00000605457 human ensembl 74_37 -1 known missense c.640 p.I214V 0.000 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Tubulin pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Epsilon_tubulin,prints_Tubulin - no_errors TUBE1 HGNC ENSG00000074935 72 0 0 14 13 48.1481 LAMA4 0 genome.wustl.edu 37 6 112461980 112461980 + Silent SNP T T A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 112461980 112461980 T A SNP LAMA4 ENST00000230538 human ensembl 74_37 -1 known silent c.2958 p.G986 0.012 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_II,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Focal_adhesion_kin_target_dom,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Laminin_G - no_errors LAMA4 HGNC ENSG00000112769 61 0 0 17 8 32 LAMA4 0 genome.wustl.edu 37 6 112461999 112461999 + Missense_Mutation SNP G G C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 112461999 112461999 G C SNP LAMA4 ENST00000230538 human ensembl 74_37 -1 known missense c.2939 p.T980R 0.787 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_II,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Focal_adhesion_kin_target_dom,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Laminin_G - no_errors LAMA4 HGNC ENSG00000112769 68 0 0 20 8 28.5714 LAMA4 0 genome.wustl.edu 37 6 112512907 112512907 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 112512907 112512907 T C SNP LAMA4 ENST00000230538 human ensembl 74_37 -1 known missense c.649 p.T217A 1.000 pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom,pfscan_EGF_laminin pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_II,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Focal_adhesion_kin_target_dom,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Laminin_G - no_errors LAMA4 HGNC ENSG00000112769 70 0 0 31 12 27.907 MARCKS 0 genome.wustl.edu 37 6 114181628 114181628 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 114181628 114181628 C T SNP MARCKS ENST00000368635 human ensembl 74_37 +1 known missense c.872 p.P291L 0.000 pfam_MARCKS pfam_MARCKS,prints_MARCKS - no_errors MARCKS HGNC ENSG00000155130 8 0 0 9 10 52.6316 NT5DC1 0 genome.wustl.edu 37 6 116542304 116542304 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 116542304 116542304 G A SNP NT5DC1 ENST00000319550 human ensembl 74_37 +1 known missense c.617 p.R206Q 0.003 pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom - no_errors NT5DC1 HGNC ENSG00000178425 111 0 0 42 29 40.8451 DSE 0 genome.wustl.edu 37 6 116758093 116758093 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 116758093 116758093 C T SNP DSE ENST00000537543 human ensembl 74_37 +1 known missense c.2519 p.A840V 0.995 NULL superfamily_Chondroitin_lyas - no_errors DSE HGNC ENSG00000111817 73 0 0 35 10 22.2222 FAM26D 0 genome.wustl.edu 37 6 116879011 116879011 + Silent SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 116879011 116879011 C A SNP FAM26D ENST00000368596 human ensembl 74_37 +1 known silent c.582 p.T194 0.997 NULL NULL - no_errors FAM26D HGNC ENSG00000164451 101 0 0 27 28 50.9091 FAM184A 0 genome.wustl.edu 37 6 119327663 119327663 + Missense_Mutation SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 119327663 119327663 G T SNP FAM184A ENST00000338891 human ensembl 74_37 -1 known missense c.1764 p.D588E 0.693 superfamily_Prefoldin superfamily_Prefoldin - no_errors FAM184A HGNC ENSG00000111879 128 0 0 72 13 15.2941 HIVEP1 0 genome.wustl.edu 37 6 12015864 12015864 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 12015864 12015864 G A SNP HIVEP1 ENST00000379388 human ensembl 74_37 +1 known missense c.3 p.M1I 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP1 HGNC ENSG00000095951 94 0 0 61 20 24.6914 HIVEP1 0 genome.wustl.edu 37 6 12124064 12124064 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 12124064 12124064 A G SNP HIVEP1 ENST00000379388 human ensembl 74_37 +1 known missense c.4036 p.M1346V 0.003 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP1 HGNC ENSG00000095951 77 0 0 28 26 48.1481 TBC1D32 0 genome.wustl.edu 37 6 121434207 121434207 + Splice_Site SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 121434207 121434207 T C SNP TBC1D32 ENST00000464622 human ensembl 74_37 -1 known splice_site c.327+1 e3+1 0.359 - - - no_errors TBC1D32 HGNC ENSG00000146350 123 0 0 65 6 8.4507 HSF2 0 genome.wustl.edu 37 6 122733884 122733884 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 122733884 122733884 A G SNP HSF2 ENST00000368455 human ensembl 74_37 +1 known missense c.305 p.D102G 1.000 pfam_HSF_DNA-bd,smart_HSF_DNA-bd pfam_Vert_HSTF_C,pfam_HSF_DNA-bd,smart_HSF_DNA-bd,prints_HSF_DNA-bd - no_errors HSF2 HGNC ENSG00000025156 117 0 0 58 46 44.2308 TRDN 0 genome.wustl.edu 37 6 123824907 123824907 + Missense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 123824907 123824907 C A SNP TRDN ENST00000398178 human ensembl 74_37 -1 known missense c.750 p.K250N 0.986 pfam_Asp-B-hydro/Triadin_dom pfam_Asp-B-hydro/Triadin_dom - no_errors TRDN HGNC ENSG00000186439 33 0 0 9 9 50 PTPRK 0 genome.wustl.edu 37 6 128388839 128388839 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 128388839 128388839 G A SNP PTPRK ENST00000368227 human ensembl 74_37 -1 known missense c.1982 p.A661V 0.969 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRK HGNC ENSG00000152894 121 0 0 47 32 40.5063 PTPRK 0 genome.wustl.edu 37 6 128399981 128399981 + Silent SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 128399981 128399981 T C SNP PTPRK ENST00000368227 human ensembl 74_37 -1 known silent c.1860 p.A620 0.962 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRK HGNC ENSG00000152894 74 0 0 49 6 10.9091 LAMA2 0 genome.wustl.edu 37 6 129608990 129608990 + Splice_Site SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 129608990 129608990 A G SNP LAMA2 ENST00000421865 human ensembl 74_37 +1 known splice_site c.2538-2 e19-2 1.000 - - - no_errors LAMA2 HGNC ENSG00000196569 158 0 0 83 9 9.78261 MED23 0 genome.wustl.edu 37 6 131912629 131912629 + Silent SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 131912629 131912629 A G SNP MED23 ENST00000368058 human ensembl 74_37 -1 known silent c.3528 p.S1176 1.000 pfam_Mediator_Med23 pfam_Mediator_Med23 - no_errors MED23 HGNC ENSG00000112282 80 0 0 41 31 43.0556 OR2A4 0 genome.wustl.edu 37 6 132022490 132022490 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 132022490 132022490 C T SNP OR2A4 ENST00000315453 human ensembl 74_37 -1 known missense c.52 p.V18I 0.010 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,prints_Melcrt_ACTH_rcpt - no_errors OR2A4 HGNC ENSG00000180658 92 0 0 71 7 8.97436 CTGF 0 genome.wustl.edu 37 6 132270418 132270418 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 132270418 132270418 C T SNP CTGF ENST00000367976 human ensembl 74_37 -1 known missense c.1036 p.G346R 1.000 pirsf_IGFBP_CNN pfam_Cys_knot,pfam_IGFBP-like,pfam_VWF_C,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_IGFBP-like,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_Cys_knot_C,pirsf_IGFBP_CNN,pfscan_Cys_knot_C,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C - no_errors CTGF HGNC ENSG00000118523 112 0 0 43 27 38.5714 CTGF 0 genome.wustl.edu 37 6 132270441 132270441 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 132270441 132270441 G A SNP CTGF ENST00000367976 human ensembl 74_37 -1 known missense c.1013 p.S338L 1.000 pfam_Cys_knot,pirsf_IGFBP_CNN pfam_Cys_knot,pfam_IGFBP-like,pfam_VWF_C,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_IGFBP-like,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_Cys_knot_C,pirsf_IGFBP_CNN,pfscan_Cys_knot_C,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C - no_errors CTGF HGNC ENSG00000118523 132 0 0 52 38 42.2222 TAAR5 0 genome.wustl.edu 37 6 132910558 132910558 + Missense_Mutation SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 132910558 132910558 G T SNP TAAR5 ENST00000258034 human ensembl 74_37 -1 known missense c.268 p.L90I 0.004 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_TAAR_fam - no_errors TAAR5 HGNC ENSG00000135569 145 0 0 62 56 47.4576 EYA4 0 genome.wustl.edu 37 6 133783831 133783831 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 133783831 133783831 G A SNP EYA4 ENST00000355167 human ensembl 74_37 +1 known missense c.653 p.G218D 1.000 NULL pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA - no_errors EYA4 HGNC ENSG00000112319 67 0 0 34 29 46.0317 BCLAF1 0 genome.wustl.edu 37 6 136597544 136597544 + Silent SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 136597544 136597544 T C SNP BCLAF1 ENST00000531224 human ensembl 74_37 -1 known silent c.1119 p.G373 1.000 NULL NULL - no_errors BCLAF1 HGNC ENSG00000029363 476 1 0.209644 255 59 18.7898 TNFAIP3 0 genome.wustl.edu 37 6 138197238 138197238 + Missense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 138197238 138197238 C A SNP TNFAIP3 ENST00000237289 human ensembl 74_37 +1 known missense c.740 p.P247H 1.000 pfam_OTU,pfscan_OTU pfam_Znf_A20,pfam_OTU,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20 - no_errors TNFAIP3 HGNC ENSG00000118503 88 0 0 65 4 5.7971 HIVEP2 0 genome.wustl.edu 37 6 143093049 143093049 + Nonsense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 143093049 143093049 G A SNP HIVEP2 ENST00000012134 human ensembl 74_37 -1 known nonsense c.2827 p.R943* 1.000 NULL pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP2 HGNC ENSG00000010818 94 0 0 57 27 32.1429 PHACTR2 0 genome.wustl.edu 37 6 144086872 144086872 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 144086872 144086872 C T SNP PHACTR2 ENST00000440869 human ensembl 74_37 +1 known missense c.1169 p.P390L 0.000 NULL pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat - no_errors PHACTR2 HGNC ENSG00000112419 141 0 0 89 20 18.3486 UTRN 0 genome.wustl.edu 37 6 144803436 144803436 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 144803436 144803436 G A SNP UTRN ENST00000367545 human ensembl 74_37 +1 known missense c.3599 p.G1200D 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors UTRN HGNC ENSG00000152818 89 0 0 39 35 47.2973 KATNBL1P6 0 genome.wustl.edu 37 6 147124814 147124814 + RNA SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 147124814 147124814 C T SNP KATNBL1P6 ENST00000562413 human ensembl 74_37 -1 known rna NULL NULL 0.986 - - - no_errors KATNBL1P6 HGNC ENSG00000228283 18 0 0 14 5 26.3158 SASH1 0 genome.wustl.edu 37 6 148840732 148840732 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 148840732 148840732 C T SNP SASH1 ENST00000367467 human ensembl 74_37 +1 known silent c.912 p.S304 0.000 NULL pfam_rSAM/SH3_domain-containing,pfam_SAM_2,pfam_SAM_type1,pfam_SH3_2,superfamily_SAM/pointed,superfamily_SH3_domain,smart_SH3_domain,smart_SAM,pfscan_SAM - no_errors SASH1 HGNC ENSG00000111961 88 0 0 31 29 48.3333 UST 0 genome.wustl.edu 37 6 149262500 149262500 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 149262500 149262500 C T SNP UST ENST00000367463 human ensembl 74_37 +1 known missense c.377 p.S126L 1.000 pfam_Sulfotransferase,pfam_Gal-3-0_sulfotransfrase,superfamily_P-loop_NTPase pfam_Sulfotransferase,pfam_Gal-3-0_sulfotransfrase,superfamily_P-loop_NTPase - no_errors UST HGNC ENSG00000111962 157 0 0 81 26 24.2991 PPIL4 0 genome.wustl.edu 37 6 149826728 149826728 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 149826728 149826728 C T SNP PPIL4 ENST00000253329 human ensembl 74_37 -1 known missense c.1340 p.R447Q 0.998 NULL pfam_Cyclophilin-like_PPIase_dom,pfam_RRM_dom,superfamily_Cyclophilin-like_PPIase_dom,smart_RRM_dom,pfscan_RRM_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors PPIL4 HGNC ENSG00000131013 92 0 0 30 15 33.3333 KATNA1 0 genome.wustl.edu 37 6 149918221 149918221 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 149918221 149918221 C T SNP KATNA1 ENST00000335647 human ensembl 74_37 -1 known missense c.1255 p.A419T 1.000 superfamily_P-loop_NTPase pfam_ATPase_AAA_core,pfam_Vps4_C,pfam_ATPase_AAA-2,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors KATNA1 HGNC ENSG00000186625 92 0 0 35 11 23.913 PCMT1 0 genome.wustl.edu 37 6 150114765 150114765 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 150114765 150114765 C T SNP PCMT1 ENST00000367384 human ensembl 74_37 +1 known silent c.552 p.D184 0.994 pfam_PCMT,tigrfam_PCMT pfam_PCMT,tigrfam_PCMT - no_errors PCMT1 HGNC ENSG00000120265 57 0 0 23 7 23.3333 PLEKHG1 0 genome.wustl.edu 37 6 151130806 151130806 + Missense_Mutation SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 151130806 151130806 G T SNP PLEKHG1 ENST00000358517 human ensembl 74_37 +1 known missense c.1214 p.R405L 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG1 HGNC ENSG00000120278 67 0 0 30 19 38.7755 ZBTB2 0 genome.wustl.edu 37 6 151687417 151687417 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 151687417 151687417 G A SNP ZBTB2 ENST00000325144 human ensembl 74_37 -1 known missense c.784 p.R262C 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB2 HGNC ENSG00000181472 157 0 0 72 54 42.8571 C6orf211 0 genome.wustl.edu 37 6 151775783 151775783 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 151775783 151775783 G A SNP C6orf211 ENST00000367294 human ensembl 74_37 +1 known missense c.142 p.G48R 1.000 pfam_DUF89,superfamily_DUF89 pfam_DUF89,superfamily_DUF89 - no_errors C6orf211 HGNC ENSG00000146476 79 0 0 25 3 10.7143 SYNE1 0 genome.wustl.edu 37 6 152590320 152590320 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 152590320 152590320 C T SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known silent c.18675 p.Q6225 0.880 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 67 0 0 51 11 17.7419 SYNE1 0 genome.wustl.edu 37 6 152605226 152605226 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 152605226 152605226 A G SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.18094 p.S6032P 0.000 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 88 0 0 30 23 43.3962 SYNE1 0 genome.wustl.edu 37 6 152658027 152658027 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 152658027 152658027 C T SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known silent c.12477 p.R4159 0.989 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 105 0 0 63 5 7.35294 VIP 0 genome.wustl.edu 37 6 153075360 153075360 + Missense_Mutation SNP A A T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 153075360 153075360 A T SNP VIP ENST00000367244 human ensembl 74_37 +1 known missense c.167 p.E56V 0.139 NULL pfam_Glucagon_GIP_secretin_VIP,smart_Glucagon_GIP_secretin_VIP - no_errors VIP HGNC ENSG00000146469 73 0 0 10 19 65.5172 MTRF1L 0 genome.wustl.edu 37 6 153315697 153315697 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 153315697 153315697 C T SNP MTRF1L ENST00000367233 human ensembl 74_37 -1 known missense c.638 p.R213H 1.000 NULL pfam_Pep_chain_release_fac_I_II,pfam_PCRF,smart_PCRF - no_errors MTRF1L HGNC ENSG00000112031 118 0 0 53 23 30.2632 JARID2 0 genome.wustl.edu 37 6 15512511 15512511 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 15512511 15512511 G A SNP JARID2 ENST00000341776 human ensembl 74_37 +1 known missense c.3025 p.V1009I 1.000 pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_TF_JmjN,pfam_Znf_C5HC2,superfamily_ARID/BRIGHT_DNA-bd,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_ARID/BRIGHT_DNA-bd - no_errors JARID2 HGNC ENSG00000008083 111 0 0 71 32 31.068 SCAF8 0 genome.wustl.edu 37 6 155153803 155153803 + Silent SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 155153803 155153803 T C SNP SCAF8 ENST00000367186 human ensembl 74_37 +1 known silent c.3288 p.P1096 1.000 NULL pfam_RNA_pol_II-bd,pfam_RRM_dom,superfamily_ENTH_VHS,smart_CID_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SCAF8 HGNC ENSG00000213079 110 0 0 56 19 25.3333 TFB1M 0 genome.wustl.edu 37 6 155579106 155579106 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 155579106 155579106 C T SNP TFB1M ENST00000367166 human ensembl 74_37 -1 known missense c.905 p.S302N 0.980 NULL pfam_rRNA_Ade_methylase_transferase,smart_rRNA_Ade_methylase_Trfase_N - no_errors TFB1M HGNC ENSG00000029639 133 0 0 66 53 44.5378 IGF2R 0 genome.wustl.edu 37 6 160493903 160493903 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 160493903 160493903 C T SNP IGF2R ENST00000356956 human ensembl 74_37 +1 known silent c.4677 p.C1559 0.001 pfam_CIMR,superfamily_Man6P_isomerase_rcpt-bd_dom pfam_CIMR,pfam_FN_type2_col-bd,superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd - no_errors IGF2R HGNC ENSG00000197081 226 0 0 141 29 17.0588 IGF2R 0 genome.wustl.edu 37 6 160523613 160523613 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 160523613 160523613 G A SNP IGF2R ENST00000356956 human ensembl 74_37 +1 known missense c.6905 p.R2302Q 1.000 NULL pfam_CIMR,pfam_FN_type2_col-bd,superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd - no_errors IGF2R HGNC ENSG00000197081 45 0 0 35 18 33.9623 SLC22A2 0 genome.wustl.edu 37 6 160670398 160670398 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 160670398 160670398 C T SNP SLC22A2 ENST00000366953 human ensembl 74_37 -1 known missense c.692 p.R231Q 0.109 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp - no_errors SLC22A2 HGNC ENSG00000112499 152 0 0 88 38 30.1587 SLC22A3 0 genome.wustl.edu 37 6 160868775 160868775 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 160868775 160868775 G A SNP SLC22A3 ENST00000392145 human ensembl 74_37 +1 known missense c.1538 p.G513D 0.658 pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp - no_errors SLC22A3 HGNC ENSG00000146477 106 0 0 28 34 54.8387 C6orf118 0 genome.wustl.edu 37 6 165706838 165706838 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 165706838 165706838 G A SNP C6orf118 ENST00000543069 human ensembl 74_37 -1 known missense c.872 p.A291V 0.003 NULL superfamily_Ribonuclease/ribotoxin - no_errors C6orf118 HGNC ENSG00000112539 117 0 0 64 64 50 C6orf118 0 genome.wustl.edu 37 6 165715177 165715177 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 165715177 165715177 C T SNP C6orf118 ENST00000230301 human ensembl 74_37 -1 known missense c.634 p.A212T 0.000 superfamily_Ribonuclease/ribotoxin superfamily_Ribonuclease/ribotoxin - no_errors C6orf118 HGNC ENSG00000112539 88 0 0 44 36 45 PDE10A 0 genome.wustl.edu 37 6 165746572 165746572 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 165746572 165746572 G A SNP PDE10A ENST00000539869 human ensembl 74_37 -1 known missense c.2312 p.T771I 0.714 NULL pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE10A HGNC ENSG00000112541 130 0 0 76 19 20 T 0 genome.wustl.edu 37 6 166574379 166574379 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 166574379 166574379 G A SNP T ENST00000296946 human ensembl 74_37 -1 known missense c.980 p.A327V 0.691 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,prints_TF_Brachyury,prints_TF_T-box,pfscan_TF_T-box - no_errors T HGNC ENSG00000164458 107 0 0 59 36 37.8947 RPS6KA2 0 genome.wustl.edu 37 6 166836791 166836791 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 166836791 166836791 C T SNP RPS6KA2 ENST00000510118 human ensembl 74_37 -1 known missense c.1771 p.G591R 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors RPS6KA2 HGNC ENSG00000071242 59 0 0 64 4 5.88235 TCTE3 0 genome.wustl.edu 37 6 170143237 170143237 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 170143237 170143237 T C SNP TCTE3 ENST00000366774 human ensembl 74_37 -1 known missense c.425 p.Y142C 0.046 pfam_Tctex pfam_Tctex - no_errors TCTE3 HGNC ENSG00000184786 111 0 0 42 29 40.8451 ERMARD 0 genome.wustl.edu 37 6 170176681 170176681 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 170176681 170176681 A G SNP ERMARD ENST00000366773 human ensembl 74_37 +1 known missense c.1651 p.T551A 0.000 NULL NULL - no_errors ERMARD HGNC ENSG00000130023 49 0 0 57 5 8.06452 FAM120B 0 genome.wustl.edu 37 6 170632310 170632310 + Silent SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 170632310 170632310 A G SNP FAM120B ENST00000537664 human ensembl 74_37 +1 known silent c.1947 p.R649 0.987 NULL NULL - no_errors FAM120B HGNC ENSG00000112584 100 0 0 28 19 40.4255 TBP 0 genome.wustl.edu 37 6 170871061 170871061 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 170871061 170871061 G A SNP TBP ENST00000230354 human ensembl 74_37 +1 known silent c.237 p.Q79 0.988 NULL pfam_TBP,prints_TBP - no_errors TBP HGNC ENSG00000112592 59 0 0 69 10 12.6582 GMDS 0 genome.wustl.edu 37 6 1726689 1726689 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 1726689 1726689 G A SNP GMDS ENST00000380815 human ensembl 74_37 -1 known silent c.948 p.H316 1.000 tigrfam_GDP_Man_deHydtase pfam_Epimerase_deHydtase,pfam_dTDP_dehydrorham_reduct,tigrfam_GDP_Man_deHydtase - no_errors GMDS HGNC ENSG00000112699 115 1 0.862069 50 35 41.1765 FAM8A1 0 genome.wustl.edu 37 6 17601001 17601001 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 17601001 17601001 C T SNP FAM8A1 ENST00000259963 human ensembl 74_37 +1 known silent c.361 p.L121 1.000 NULL pfam_RDD - no_errors FAM8A1 HGNC ENSG00000137414 70 0 0 48 24 33.3333 FAM8A1 0 genome.wustl.edu 37 6 17602852 17602852 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 17602852 17602852 C T SNP FAM8A1 ENST00000259963 human ensembl 74_37 +1 known silent c.744 p.H248 1.000 pfam_RDD pfam_RDD - no_errors FAM8A1 HGNC ENSG00000137414 97 0 0 35 17 32.6923 MRS2 0 genome.wustl.edu 37 6 24403213 24403213 + RNA SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 24403213 24403213 G T SNP MRS2 ENST00000483634 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MRS2 HGNC ENSG00000124532 34 0 0 22 11 33.3333 ALDH5A1 0 genome.wustl.edu 37 6 24533872 24533872 + Nonsense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 24533872 24533872 C T SNP ALDH5A1 ENST00000348925 human ensembl 74_37 +1 known nonsense c.1579 p.R527* 0.976 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_Succ_semiAld_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_Succ_semiAld_DH - no_errors ALDH5A1 HGNC ENSG00000112294 134 0 0 61 36 37.1134 LOC101928663 0 genome.wustl.edu 37 6 25261469 25261469 + RNA SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 25261469 25261469 G A SNP LOC101928663 ENST00000413898 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RP3-522P13.3 Clone_based_vega_gene ENSG00000235733 8 0 0 10 3 23.0769 HIST1H4B 0 genome.wustl.edu 37 6 26027254 26027254 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 26027254 26027254 T C SNP HIST1H4B ENST00000377364 human ensembl 74_37 -1 known missense c.227 p.H76R 1.000 pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4 pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4 - no_errors HIST1H4B HGNC ENSG00000124529 89 0 0 57 39 40.625 HIST1H2BC 0 genome.wustl.edu 37 6 26123766 26123766 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 26123766 26123766 T C SNP HIST1H2BC ENST00000314332 human ensembl 74_37 -1 known missense c.367 p.T123A 1.000 superfamily_Histone-fold,smart_Histone_H2B pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST1H2BC HGNC ENSG00000180596 128 0 0 76 35 31.5315 HIST1H2BC 0 genome.wustl.edu 37 6 26123773 26123773 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 26123773 26123773 G A SNP HIST1H2BC ENST00000314332 human ensembl 74_37 -1 known silent c.360 p.T120 1.000 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 122 0 0 64 51 44.3478 HIST1H2AD 0 genome.wustl.edu 37 6 26199429 26199429 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 26199429 26199429 C T SNP HIST1H2AD ENST00000341023 human ensembl 74_37 -1 known missense c.43 p.A15T 1.000 superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST1H2AD HGNC ENSG00000196866 44 0 0 30 16 34.7826 HIST1H3G 0 genome.wustl.edu 37 6 26271325 26271325 + Silent SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 26271325 26271325 G T SNP HIST1H3G ENST00000305910 human ensembl 74_37 -1 known silent c.288 p.A96 0.994 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 - no_errors HIST1H3G HGNC ENSG00000256018 175 0 0 153 9 5.55556 ZNF184 0 genome.wustl.edu 37 6 27420877 27420877 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 27420877 27420877 T C SNP ZNF184 ENST00000211936 human ensembl 74_37 -1 known missense c.461 p.Q154R 0.066 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF184 HGNC ENSG00000096654 185 0 0 62 40 39.2157 HIST1H2BM 0 genome.wustl.edu 37 6 27782980 27782980 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 27782980 27782980 C T SNP HIST1H2BM ENST00000359465 human ensembl 74_37 +1 known silent c.159 p.T53 0.978 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 HIST1H2BM HGNC ENSG00000196374 286 0 0 138 75 35.2113 HIST1H2BM 0 genome.wustl.edu 37 6 27783176 27783176 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 27783176 27783176 G A SNP HIST1H2BM ENST00000359465 human ensembl 74_37 +1 known missense c.355 p.V119I 1.000 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 HIST1H2BM HGNC ENSG00000196374 91 0 0 57 31 35.2273 HIST1H4K 0 genome.wustl.edu 37 6 27799300 27799300 + Silent SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 27799300 27799300 A G SNP HIST1H4K ENST00000357549 human ensembl 74_37 -1 known silent c.6 p.S2 1.000 superfamily_Histone-fold pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4 - no_errors HIST1H4K HGNC ENSG00000197914 94 0 0 71 23 24.4681 ZSCAN16 0 genome.wustl.edu 37 6 28097507 28097507 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 28097507 28097507 C T SNP ZSCAN16 ENST00000340487 human ensembl 74_37 +1 known missense c.826 p.R276C 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN16 HGNC ENSG00000196812 79 0 0 46 7 13.2075 ZKSCAN4 0 genome.wustl.edu 37 6 28214760 28214760 + Missense_Mutation SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 28214760 28214760 G T SNP ZKSCAN4 ENST00000377294 human ensembl 74_37 -1 known missense c.765 p.S255R 0.558 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZKSCAN4 HGNC ENSG00000187626 103 0 0 72 5 6.49351 ZKSCAN3 0 genome.wustl.edu 37 6 28327560 28327560 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 28327560 28327560 G A SNP ZKSCAN3 ENST00000252211 human ensembl 74_37 +1 known missense c.197 p.R66Q 0.824 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZKSCAN3 HGNC ENSG00000189298 139 0 0 74 42 36.2069 SCAND3 0 genome.wustl.edu 37 6 28543226 28543226 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 28543226 28543226 T C SNP SCAND3 ENST00000452236 human ensembl 74_37 -1 known missense c.1256 p.H419R 1.000 pfam_Integrase_cat-core,superfamily_RNaseH-like_dom,pfscan_Integrase_cat-core pfam_Tscrpt_reg_SCAN,pfam_Integrase_cat-core,pfam_HATC_dom_C,superfamily_Retrov_capsid_C,superfamily_RNaseH-like_dom,smart_Tscrpt_reg_SCAN,pfscan_Integrase_cat-core,pfscan_Tscrpt_reg_SCAN - no_errors SCAND3 HGNC ENSG00000232040 93 0 0 32 17 34.6939 OR14J1 0 genome.wustl.edu 37 6 29274602 29274602 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 29274602 29274602 A G SNP OR14J1 ENST00000377160 human ensembl 74_37 +1 known missense c.136 p.I46V 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 OR14J1 HGNC ENSG00000204695 181 1 0.549451 78 47 37.6 HLA-F 0 genome.wustl.edu 37 6 29691536 29691536 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 29691536 29691536 C T SNP HLA-F ENST00000259951 human ensembl 74_37 +1 known missense c.166 p.R56W 0.997 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a - no_errors HLA-F HGNC ENSG00000204642 20 0 0 18 9 33.3333 HLA-F 0 genome.wustl.edu 37 6 29691907 29691907 + RNA SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 29691907 29691907 G T SNP HLA-F ENST00000485513 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors HLA-F HGNC ENSG00000204642 40 0 0 15 22 59.4595 TRIM26 0 genome.wustl.edu 37 6 30154113 30154113 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 30154113 30154113 T C SNP TRIM26 ENST00000437089 human ensembl 74_37 -1 known missense c.1160 p.D387G 0.069 superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM26 HGNC ENSG00000234127 82 0 0 39 29 42.6471 GNL1 0 genome.wustl.edu 37 6 30514078 30514078 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 30514078 30514078 G A SNP GNL1 ENST00000376621 human ensembl 74_37 -1 known missense c.1595 p.S532F 1.000 NULL pfam_GTP_binding_domain,superfamily_P-loop_NTPase - no_errors GNL1 HGNC ENSG00000204590 10 0 0 5 8 61.5385 PPP1R18 0 genome.wustl.edu 37 6 30653469 30653469 + Silent SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 30653469 30653469 T C SNP PPP1R18 ENST00000274853 human ensembl 74_37 -1 known silent c.327 p.L109 0.000 NULL NULL - no_errors PPP1R18 HGNC ENSG00000146112 117 0 0 95 8 7.76699 TUBB2A 0 genome.wustl.edu 37 6 3154755 3154755 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 3154755 3154755 T C SNP TUBB2A ENST00000333628 human ensembl 74_37 -1 known missense c.680 p.H227R 1.000 superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin - no_errors TUBB2A HGNC ENSG00000137267 56 0 0 30 18 37.5 TUBB2A 0 genome.wustl.edu 37 6 3157684 3157684 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 3157684 3157684 A G SNP TUBB2A ENST00000333628 human ensembl 74_37 -1 known missense c.14 p.V5A 1.000 pfam_Tubulin_FtsZ_GTPase,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin - no_errors TUBB2A HGNC ENSG00000137267 11 0 0 13 3 18.75 PRRC2A 0 genome.wustl.edu 37 6 31593589 31593589 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 31593589 31593589 G A SNP PRRC2A ENST00000376007 human ensembl 74_37 +1 known silent c.780 p.P260 0.977 NULL pfam_BAT2_N - no_errors PRRC2A HGNC ENSG00000204469 73 0 0 39 36 48 PRRC2A 0 genome.wustl.edu 37 6 31599250 31599250 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 31599250 31599250 C T SNP PRRC2A ENST00000376007 human ensembl 74_37 +1 known missense c.2800 p.R934C 0.998 NULL pfam_BAT2_N - no_errors PRRC2A HGNC ENSG00000204469 18 0 0 16 3 15.7895 PRRC2A 0 genome.wustl.edu 37 6 31600180 31600180 + Nonsense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 31600180 31600180 C T SNP PRRC2A ENST00000376007 human ensembl 74_37 +1 known nonsense c.3730 p.R1244* 0.035 NULL pfam_BAT2_N - no_errors PRRC2A HGNC ENSG00000204469 74 0 0 43 29 40.2778 VARS 0 genome.wustl.edu 37 6 31745394 31745394 + Missense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 31745394 31745394 C A SNP VARS ENST00000375663 human ensembl 74_37 -1 known missense c.3772 p.A1258S 0.131 superfamily_tRNA-bd_arm pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Glutathione_S-Trfase_N,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_GST_C,superfamily_Val/Leu/Ile-tRNA-synth_edit,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Glutathione-S-Trfase_C-like,superfamily_tRNA-bd_arm,prints_Valyl-tRNA_ligase,tigrfam_Valyl-tRNA_ligase - no_errors VARS HGNC ENSG00000204394 25 0 0 28 8 22.2222 HSPA1L 0 genome.wustl.edu 37 6 31777884 31777884 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 31777884 31777884 G A SNP HSPA1L ENST00000375654 human ensembl 74_37 -1 known silent c.1866 p.C622 0.002 NULL pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA1L HGNC ENSG00000204390 91 0 0 35 27 43.5484 HSPA1A 0 genome.wustl.edu 37 6 31783543 31783543 + Missense_Mutation SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 31783543 31783543 G T SNP HSPA1A ENST00000375651 human ensembl 74_37 +1 known missense c.10 p.A4S 0.002 NULL pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA1A HGNC ENSG00000204389 98 0 0 75 26 25.7426 PRRT1 0 genome.wustl.edu 37 6 32116928 32116928 + RNA SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 32116928 32116928 G A SNP PRRT1 ENST00000467780 human ensembl 74_37 -1 known rna NULL NULL 0.911 - - - no_errors PRRT1 HGNC ENSG00000204314 11 0 0 10 6 37.5 NOTCH4 0 genome.wustl.edu 37 6 32187376 32187376 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 32187376 32187376 G A SNP NOTCH4 ENST00000375023 human ensembl 74_37 -1 known silent c.1503 p.C501 1.000 pirsf_Notch,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pirsf_Notch,pfam_EG-like_dom,pfam_Ankyrin_rpt,pfam_EGF-like_Ca-bd_dom,pfam_Notch_dom,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_4,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH4 HGNC ENSG00000204301 34 0 0 17 10 37.037 TUBB2B 0 genome.wustl.edu 37 6 3225036 3225036 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 3225036 3225036 C T SNP TUBB2B ENST00000259818 human ensembl 74_37 -1 known silent c.1287 p.T429 0.257 superfamily_Tub_FtsZ_C,prints_Beta_tubulin,prints_Gamma_tubulin,prints_Alpha_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin - no_errors TUBB2B HGNC ENSG00000137285 62 0 0 60 36 37.5 HLA-DRA 0 genome.wustl.edu 37 6 32410339 32410339 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 32410339 32410339 C T SNP HLA-DRA ENST00000395388 human ensembl 74_37 +1 known missense c.197 p.T66M 0.934 pfam_MHC_II_a_N,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_a_N pfam_MHC_II_a_N,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_a_N,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors HLA-DRA HGNC ENSG00000204287 151 0 0 118 10 7.8125 TAP2 0 genome.wustl.edu 37 6 32803064 32803064 + Missense_Mutation SNP A A C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 32803064 32803064 A C SNP TAP2 ENST00000374897 human ensembl 74_37 -1 known missense c.812 p.L271R 0.134 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom,tigrfam_Ag_transporter2 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_ABC_B3,prints_ABC_B2,tigrfam_Ag_transporter2 - no_errors TAP2 HGNC ENSG00000204267 70 0 0 44 20 31.25 RING1 0 genome.wustl.edu 37 6 33179049 33179049 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 33179049 33179049 C T SNP RING1 ENST00000374656 human ensembl 74_37 +1 known silent c.570 p.S190 0.020 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RING1 HGNC ENSG00000204227 95 0 0 50 32 39.0244 VPS52 0 genome.wustl.edu 37 6 33232675 33232675 + Missense_Mutation SNP T T G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 33232675 33232675 T G SNP VPS52 ENST00000445902 human ensembl 74_37 -1 known missense c.1284 p.K428N 0.998 pfam_Vps52 pfam_Vps52,pfam_Exocyst_Exoc1/SEC3 - no_errors VPS52 HGNC ENSG00000223501 211 0 0 94 57 37.7483 TAPBP 0 genome.wustl.edu 37 6 33281127 33281127 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 33281127 33281127 C T SNP TAPBP ENST00000426633 human ensembl 74_37 -1 known silent c.336 p.A112 0.152 NULL pfam_Ig_C1-set,pfscan_Ig-like_dom,prints_Tapasin - no_errors TAPBP HGNC ENSG00000231925 43 0 0 41 11 21.1538 SYNGAP1 0 genome.wustl.edu 37 6 33393628 33393628 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 33393628 33393628 G A SNP SYNGAP1 ENST00000418600 human ensembl 74_37 +1 known silent c.243 p.L81 1.000 smart_Pleckstrin_homology pfam_DUF3498,pfam_RasGAP,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP - no_errors SYNGAP1 HGNC ENSG00000197283 55 0 0 42 22 34.375 SYNGAP1 0 genome.wustl.edu 37 6 33405813 33405813 + Missense_Mutation SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 33405813 33405813 G T SNP SYNGAP1 ENST00000418600 human ensembl 74_37 +1 known missense c.1131 p.M377I 0.968 NULL pfam_DUF3498,pfam_RasGAP,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP - no_errors SYNGAP1 HGNC ENSG00000197283 29 0 0 23 3 11.5385 SYNGAP1 0 genome.wustl.edu 37 6 33411374 33411374 + Silent SNP T T G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 33411374 33411374 T G SNP SYNGAP1 ENST00000418600 human ensembl 74_37 +1 known silent c.3045 p.T1015 1.000 pfam_DUF3498 pfam_DUF3498,pfam_RasGAP,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP - no_errors SYNGAP1 HGNC ENSG00000197283 353 0 0 291 64 18.0282 GRM4 0 genome.wustl.edu 37 6 34003743 34003743 + Missense_Mutation SNP C C G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 34003743 34003743 C G SNP GRM4 ENST00000374181 human ensembl 74_37 -1 known missense c.2144 p.C715S 0.996 pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_4,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_GABA_rcpt_B - no_errors GRM4 HGNC ENSG00000124493 145 0 0 73 54 42.5197 GRM4 0 genome.wustl.edu 37 6 34004131 34004131 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 34004131 34004131 G A SNP GRM4 ENST00000374181 human ensembl 74_37 -1 known missense c.1756 p.P586S 0.993 NULL pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_4,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_GABA_rcpt_B - no_errors GRM4 HGNC ENSG00000124493 54 0 0 27 18 40 DEF6 0 genome.wustl.edu 37 6 35288973 35288973 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 35288973 35288973 C T SNP DEF6 ENST00000316637 human ensembl 74_37 +1 known missense c.1682 p.P561L 0.530 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DEF6 HGNC ENSG00000023892 295 1 0.337838 260 19 6.81004 PPARD 0 genome.wustl.edu 37 6 35393806 35393806 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 35393806 35393806 G A SNP PPARD ENST00000311565 human ensembl 74_37 +1 known missense c.1276 p.E426K 0.996 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,prints_1Cnucl_rcpt pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_1Cnucl_rcpt,prints_Str_hrmn_rcpt,prints_1Cnucl_rcpt_B,prints_Znf_hrmn_rcpt,prints_1Cnucl_rcpt_A - no_errors PPARD HGNC ENSG00000112033 79 0 0 67 7 9.45946 C6orf222 0 genome.wustl.edu 37 6 36298298 36298298 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 36298298 36298298 C T SNP C6orf222 ENST00000437635 human ensembl 74_37 -1 known missense c.170 p.R57K 0.000 NULL NULL - no_errors C6orf222 HGNC ENSG00000189325 134 0 0 43 48 52.7473 SRSF3 0 genome.wustl.edu 37 6 36569517 36569517 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 36569517 36569517 C T SNP SRSF3 ENST00000373715 human ensembl 74_37 +1 known missense c.413 p.S138L 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SRSF3 HGNC ENSG00000112081 166 1 0.598802 106 57 34.9693 FGD2 0 genome.wustl.edu 37 6 36982426 36982426 + Silent SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 36982426 36982426 C A SNP FGD2 ENST00000274963 human ensembl 74_37 +1 known silent c.828 p.A276 0.301 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_Znf_FYVE,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD2 HGNC ENSG00000146192 62 0 0 58 4 6.45161 TBC1D22B 0 genome.wustl.edu 37 6 37237385 37237385 + Silent SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 37237385 37237385 T C SNP TBC1D22B ENST00000373491 human ensembl 74_37 +1 known silent c.72 p.Y24 1.000 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D22B HGNC ENSG00000065491 45 0 0 28 14 33.3333 CMTR1 0 genome.wustl.edu 37 6 37403507 37403507 + Silent SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 37403507 37403507 A G SNP CMTR1 ENST00000373451 human ensembl 74_37 +1 known silent c.102 p.E34 0.949 NULL pfam_rRNA_MeTrfase_FtsJ_dom,pfam_G_patch_dom,smart_G_patch_dom,smart_WW_dom,pfscan_G_patch_dom - no_errors CMTR1 HGNC ENSG00000137200 62 0 0 33 31 48.4375 CMTR1 0 genome.wustl.edu 37 6 37418080 37418080 + Silent SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 37418080 37418080 T C SNP CMTR1 ENST00000373451 human ensembl 74_37 +1 known silent c.498 p.P166 0.999 NULL pfam_rRNA_MeTrfase_FtsJ_dom,pfam_G_patch_dom,smart_G_patch_dom,smart_WW_dom,pfscan_G_patch_dom - no_errors CMTR1 HGNC ENSG00000137200 69 0 0 30 29 49.1525 DNAH8 0 genome.wustl.edu 37 6 38704868 38704868 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 38704868 38704868 C T SNP DNAH8 ENST00000359357 human ensembl 74_37 +1 known missense c.137 p.A46V 0.950 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH8 HGNC ENSG00000124721 99 0 0 35 21 37.5 IRF4 0 genome.wustl.edu 37 6 394868 394868 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 394868 394868 G A SNP IRF4 ENST00000380956 human ensembl 74_37 +1 known silent c.264 p.P88 0.931 pfam_Interferon_reg_fact_DNA-bd_dom,smart_Interferon_reg_fact_DNA-bd_dom pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF4 HGNC ENSG00000137265 168 0 0 113 46 28.9308 PRPF4B 0 genome.wustl.edu 37 6 4041057 4041057 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 4041057 4041057 C T SNP PRPF4B ENST00000337659 human ensembl 74_37 +1 known silent c.1464 p.R488 0.180 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors PRPF4B HGNC ENSG00000112739 73 0 0 44 27 38.0282 USP49 0 genome.wustl.edu 37 6 41773522 41773522 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 41773522 41773522 C T SNP USP49 ENST00000373009 human ensembl 74_37 -1 known silent c.1200 p.A400 0.213 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP49 HGNC ENSG00000164663 58 0 0 27 30 52.6316 TRERF1 0 genome.wustl.edu 37 6 42211008 42211008 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 42211008 42211008 G A SNP TRERF1 ENST00000541110 human ensembl 74_37 -1 known missense c.2897 p.A966V 0.120 NULL pfam_ELM2_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_SANT/Myb,pfscan_ELM2_dom,pfscan_Znf_C2H2 - no_errors TRERF1 HGNC ENSG00000124496 150 0 0 73 34 31.7757 TRERF1 0 genome.wustl.edu 37 6 42235905 42235905 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 42235905 42235905 G A SNP TRERF1 ENST00000541110 human ensembl 74_37 -1 known missense c.1424 p.A475V 0.429 NULL pfam_ELM2_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_SANT/Myb,pfscan_ELM2_dom,pfscan_Znf_C2H2 - no_errors TRERF1 HGNC ENSG00000124496 82 0 0 48 34 41.4634 GLTSCR1L 0 genome.wustl.edu 37 6 42832398 42832398 + Missense_Mutation SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 42832398 42832398 G T SNP GLTSCR1L ENST00000314073 human ensembl 74_37 +1 known missense c.2454 p.E818D 1.000 NULL NULL - no_errors GLTSCR1L HGNC ENSG00000112624 88 0 0 41 24 36.9231 PTK7 0 genome.wustl.edu 37 6 43109810 43109810 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 43109810 43109810 T C SNP PTK7 ENST00000230419 human ensembl 74_37 +1 known missense c.1910 p.L637P 0.997 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Immunoglobulin,pfam_Prot_kinase_dom,pfam_Ig_V-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PTK7 HGNC ENSG00000112655 81 0 0 48 23 32.3944 SRF 0 genome.wustl.edu 37 6 43146121 43146121 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 43146121 43146121 G A SNP SRF ENST00000265354 human ensembl 74_37 +1 known missense c.1252 p.A418T 1.000 NULL pfam_TF_MADSbox,superfamily_TF_MADSbox,smart_TF_MADSbox,pfscan_TF_MADSbox,prints_TF_MADSbox - no_errors SRF HGNC ENSG00000112658 109 0 0 40 29 42.029 ZNF318 0 genome.wustl.edu 37 6 43323652 43323652 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 43323652 43323652 G A SNP ZNF318 ENST00000361428 human ensembl 74_37 -1 known silent c.1420 p.L474 0.974 NULL smart_Znf_U1 - no_errors ZNF318 HGNC ENSG00000171467 173 0 0 92 56 37.8378 CAPN11 0 genome.wustl.edu 37 6 44143881 44143881 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 44143881 44143881 T C SNP CAPN11 ENST00000398776 human ensembl 74_37 +1 known missense c.908 p.L303P 0.007 pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN11 HGNC ENSG00000137225 46 0 0 18 11 37.931 CAPN11 0 genome.wustl.edu 37 6 44144341 44144341 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 44144341 44144341 C T SNP CAPN11 ENST00000398776 human ensembl 74_37 +1 known missense c.1025 p.A342V 0.000 pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN11 HGNC ENSG00000137225 84 0 0 43 18 29.5082 CAPN11 0 genome.wustl.edu 37 6 44144696 44144696 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 44144696 44144696 C T SNP CAPN11 ENST00000398776 human ensembl 74_37 +1 known missense c.1198 p.R400C 0.999 pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Calpain_III pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN11 HGNC ENSG00000137225 180 0 0 152 13 7.87879 HSP90AB1 0 genome.wustl.edu 37 6 44218837 44218837 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 44218837 44218837 G A SNP HSP90AB1 ENST00000353801 human ensembl 74_37 +1 known missense c.1010 p.R337H 1.000 pfam_Hsp90_fam,superfamily_Ribosomal_S5_D2-typ_fold,pirsf_Hsp90_fam pfam_Hsp90_fam,pfam_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_HATPase_ATP-bd,smart_HATPase_ATP-bd,pirsf_Hsp90_fam,prints_Hsp90_N - no_errors HSP90AB1 HGNC ENSG00000096384 183 0 0 80 52 39.3939 CLIC5 0 genome.wustl.edu 37 6 45882038 45882038 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 45882038 45882038 C T SNP CLIC5 ENST00000185206 human ensembl 74_37 -1 known missense c.992 p.R331Q 0.943 superfamily_Glutathione-S-Trfase_C-like,prints_Int_Cl_channel,tigrfam_Int_Cl_channel superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_Int_Cl_channel,tigrfam_Int_Cl_channel - no_errors CLIC5 HGNC ENSG00000112782 91 0 0 79 20 20.202 PTCHD4 0 genome.wustl.edu 37 6 47976384 47976384 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 47976384 47976384 G A SNP PTCHD4 ENST00000339488 human ensembl 74_37 -1 known missense c.893 p.P298L 1.000 pfam_Patched,pfscan_SSD pfam_Patched,pfscan_SSD - no_errors PTCHD4 HGNC ENSG00000244694 20 0 0 19 7 26.9231 DEFB112 0 genome.wustl.edu 37 6 50011439 50011439 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 50011439 50011439 T C SNP DEFB112 ENST00000322246 human ensembl 74_37 -1 known missense c.191 p.Q64R 0.000 NULL NULL - no_errors DEFB112 HGNC ENSG00000180872 95 0 0 32 21 39.6226 TFAP2B 0 genome.wustl.edu 37 6 50810889 50810889 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 50810889 50810889 G A SNP TFAP2B ENST00000263046 human ensembl 74_37 +1 known silent c.1194 p.P398 0.914 pfam_TF_AP2_C pfam_TF_AP2_C,prints_TF_AP2_beta,prints_TF_AP2_C - no_errors TFAP2B HGNC ENSG00000008196 144 0 0 149 17 10.241 GSTA1 0 genome.wustl.edu 37 6 52656537 52656537 + RNA SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 52656537 52656537 A G SNP GSTA1 ENST00000493331 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors GSTA1 HGNC ENSG00000243955 26 0 0 8 8 50 ICK 0 genome.wustl.edu 37 6 52870003 52870003 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 52870003 52870003 C T SNP ICK ENST00000350082 human ensembl 74_37 -1 known missense c.1843 p.A615T 0.993 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ICK HGNC ENSG00000112144 111 0 0 96 7 6.79612 FARS2 0 genome.wustl.edu 37 6 5404868 5404868 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 5404868 5404868 G A SNP FARS2 ENST00000274680 human ensembl 74_37 +1 known missense c.706 p.V236M 0.035 pfscan_aa-tRNA-synth_II,tigrfam_Phe-tRNA-synth_IIc_mito pfam_Phenylalanyl-tRNA_Synthase,pfam_PheS_beta_Fdx_antiC-bd,superfamily_PheS_beta_Fdx_antiC-bd,smart_PheS_beta_Fdx_antiC-bd,pfscan_aa-tRNA-synth_II,tigrfam_Phe-tRNA-synth_IIc_mito - no_errors FARS2 HGNC ENSG00000145982 61 0 0 34 16 32 FAM83B 0 genome.wustl.edu 37 6 54735123 54735123 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 54735123 54735123 T C SNP FAM83B ENST00000306858 human ensembl 74_37 +1 known missense c.79 p.W27R 1.000 pfam_DUF1669 pfam_DUF1669 - no_errors FAM83B HGNC ENSG00000168143 160 0 0 57 36 38.7097 COL21A1 0 genome.wustl.edu 37 6 55925815 55925815 + Silent SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 55925815 55925815 A G SNP COL21A1 ENST00000244728 human ensembl 74_37 -1 known silent c.2226 p.P742 0.999 pfam_Collagen pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl_sf,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A - no_errors COL21A1 HGNC ENSG00000124749 53 0 0 32 16 33.3333 COL21A1 0 genome.wustl.edu 37 6 56044553 56044553 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 56044553 56044553 C T SNP COL21A1 ENST00000244728 human ensembl 74_37 -1 known missense c.463 p.A155T 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl_sf,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A - no_errors COL21A1 HGNC ENSG00000124749 48 0 0 26 7 21.2121 DST 0 genome.wustl.edu 37 6 56330968 56330968 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 56330968 56330968 A G SNP DST ENST00000370754 human ensembl 74_37 -1 known missense c.22502 p.L7501P 1.000 pfam_GAS2_dom,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_GAS2_dom pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors DST HGNC ENSG00000151914 28 0 0 13 7 35 DST 0 genome.wustl.edu 37 6 56400091 56400091 + Splice_Site SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 56400091 56400091 C A SNP DST ENST00000370754 human ensembl 74_37 -1 known splice_site c.16678-1 e63-1 1.000 - - - no_errors DST HGNC ENSG00000151914 51 0 0 29 17 36.9565 DST 0 genome.wustl.edu 37 6 56505385 56505385 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 56505385 56505385 G A SNP DST ENST00000370754 human ensembl 74_37 -1 known silent c.1947 p.D649 1.000 superfamily_ABC1_TM_dom pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors DST HGNC ENSG00000151914 87 0 0 53 4 7.01754 F13A1 0 genome.wustl.edu 37 6 6225036 6225036 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 6225036 6225036 A G SNP F13A1 ENST00000264870 human ensembl 74_37 -1 known missense c.856 p.Y286H 1.000 NULL pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors F13A1 HGNC ENSG00000124491 114 0 0 60 55 47.8261 LY86-AS1 0 genome.wustl.edu 37 6 6347422 6347422 + RNA SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 6347422 6347422 A G SNP LY86-AS1 ENST00000429345 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors LY86-AS1 HGNC ENSG00000216863 9 0 0 6 8 57.1429 EXOC2 0 genome.wustl.edu 37 6 637811 637811 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 637811 637811 C T SNP EXOC2 ENST00000230449 human ensembl 74_37 -1 known missense c.8 p.R3Q 0.976 NULL pfam_IPT,superfamily_Ig_E-set,superfamily_Cullin_repeat-like_dom - no_errors EXOC2 HGNC ENSG00000112685 119 0 0 67 47 41.2281 LMBRD1 0 genome.wustl.edu 37 6 70428963 70428963 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 70428963 70428963 A G SNP LMBRD1 ENST00000370577 human ensembl 74_37 -1 known missense c.647 p.M216T 1.000 pfam_LMBR1-like_membr_prot pfam_LMBR1-like_membr_prot - no_errors LMBRD1 HGNC ENSG00000168216 26 0 0 14 11 44 FAM135A 0 genome.wustl.edu 37 6 71185436 71185436 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 71185436 71185436 C T SNP FAM135A ENST00000418814 human ensembl 74_37 +1 known missense c.368 p.S123L 1.000 pfam_DUF3657 pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like,pfam_LACT/PDAT_acylTrfase - no_errors FAM135A HGNC ENSG00000082269 47 0 0 13 9 40.9091 RREB1 0 genome.wustl.edu 37 6 7230609 7230609 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 7230609 7230609 C T SNP RREB1 ENST00000379938 human ensembl 74_37 +1 known silent c.2277 p.G759 0.001 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors RREB1 HGNC ENSG00000124782 48 0 0 47 36 43.3735 MB21D1 0 genome.wustl.edu 37 6 74138519 74138519 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 74138519 74138519 A G SNP MB21D1 ENST00000370315 human ensembl 74_37 -1 known missense c.1130 p.L377P 0.918 pfam_Mab-21_dom pfam_Mab-21_dom - no_errors MB21D1 HGNC ENSG00000164430 52 0 0 23 7 23.3333 DSP 0 genome.wustl.edu 37 6 7579924 7579924 + Missense_Mutation SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 7579924 7579924 G T SNP DSP ENST00000379802 human ensembl 74_37 +1 known missense c.3501 p.K1167N 1.000 NULL pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors DSP HGNC ENSG00000096696 51 0 0 33 11 25 SENP6 0 genome.wustl.edu 37 6 76405543 76405543 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 76405543 76405543 A G SNP SENP6 ENST00000370014 human ensembl 74_37 +1 known missense c.2099 p.K700R 1.000 pfam_Peptidase_C48,pfscan_Peptidase_C48 pfam_Peptidase_C48,pfscan_Peptidase_C48 - no_errors SENP6 HGNC ENSG00000112701 150 0 0 40 20 33.3333 MYO6 0 genome.wustl.edu 37 6 76618318 76618318 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 76618318 76618318 G A SNP MYO6 ENST00000369981 human ensembl 74_37 +1 known missense c.3416 p.R1139H 1.000 NULL pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom - no_errors MYO6 HGNC ENSG00000196586 111 0 0 61 31 33.6957 DOPEY1 0 genome.wustl.edu 37 6 83839938 83839938 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 83839938 83839938 T C SNP DOPEY1 ENST00000349129 human ensembl 74_37 +1 known missense c.2438 p.L813P 0.994 superfamily_ARM-type_fold pfam_Dopey_N,superfamily_ARM-type_fold - no_errors DOPEY1 HGNC ENSG00000083097 51 0 0 31 9 22.5 DOPEY1 0 genome.wustl.edu 37 6 83839961 83839961 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 83839961 83839961 A G SNP DOPEY1 ENST00000349129 human ensembl 74_37 +1 known missense c.2461 p.T821A 1.000 superfamily_ARM-type_fold pfam_Dopey_N,superfamily_ARM-type_fold - no_errors DOPEY1 HGNC ENSG00000083097 50 0 0 33 11 25 CYB5R4 0 genome.wustl.edu 37 6 84603290 84603290 + Missense_Mutation SNP A A C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 84603290 84603290 A C SNP CYB5R4 ENST00000369681 human ensembl 74_37 +1 known missense c.279 p.E93D 1.000 pfam_Cyt_B5-like_heme/steroid-bd,superfamily_Cyt_B5-like_heme/steroid-bd,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Cyt_B5-like_heme/steroid-bd pfam_Cyt_B5-like_heme/steroid-bd,pfam_OxRdtase_FAD-bd_dom,pfam_OxRdtase_FAD/NAD-bd,pfam_CS_dom,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_Riboflavin_synthase-like_b-brl,superfamily_HSP20-like_chaperone,pfscan_CS_dom,pfscan_Cyt_B5-like_heme/steroid-bd,prints_NADH-Cyt_B5_reductase,prints_Cyt_B5-like_heme/steroid-bd - no_errors CYB5R4 HGNC ENSG00000065615 111 0 0 42 30 41.6667 KIAA1009 0 genome.wustl.edu 37 6 84834752 84834752 + RNA SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 84834752 84834752 G A SNP KIAA1009 ENST00000461137 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors KIAA1009 HGNC ENSG00000135315 16 0 0 6 6 50 ZNF292 0 genome.wustl.edu 37 6 87970368 87970368 + Silent SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 87970368 87970368 T C SNP ZNF292 ENST00000369577 human ensembl 74_37 +1 known silent c.7021 p.L2341 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF292 HGNC ENSG00000188994 36 0 0 31 32 50.7937 ZNF292 0 genome.wustl.edu 37 6 87970811 87970811 + Silent SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 87970811 87970811 T C SNP ZNF292 ENST00000369577 human ensembl 74_37 +1 known silent c.7464 p.F2488 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF292 HGNC ENSG00000188994 35 0 0 11 12 52.1739 SMIM8 0 genome.wustl.edu 37 6 88046852 88046852 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 88046852 88046852 C T SNP SMIM8 ENST00000229570 human ensembl 74_37 +1 known missense c.103 p.R35C 1.000 NULL NULL - no_errors SMIM8 HGNC ENSG00000111850 118 0 0 35 40 53.3333 C6orf165 0 genome.wustl.edu 37 6 88173833 88173833 + Silent SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 88173833 88173833 T C SNP C6orf165 ENST00000369562 human ensembl 74_37 +1 known silent c.1734 p.T578 0.000 NULL pfam_DUF3508 - no_errors C6ORF165 Uniprot_gn ENSG00000272514 56 0 0 21 20 48.7805 GABRR2 0 genome.wustl.edu 37 6 89978860 89978860 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 89978860 89978860 G A SNP GABRR2 ENST00000602399 human ensembl 74_37 -1 known missense c.457 p.R153W 0.986 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAa_rho2_rcpt,prints_GABAAa_rho_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRR2 HGNC ENSG00000111886 158 0 0 88 50 36.2319 MDN1 0 genome.wustl.edu 37 6 90395561 90395561 + Nonsense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 90395561 90395561 G A SNP MDN1 ENST00000369393 human ensembl 74_37 -1 known nonsense c.11704 p.Q3902* 0.989 pirsf_Midasin pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC ENSG00000112159 49 0 0 19 11 36.6667 MDN1 0 genome.wustl.edu 37 6 90399785 90399785 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 90399785 90399785 G A SNP MDN1 ENST00000369393 human ensembl 74_37 -1 known silent c.10827 p.G3609 0.000 pirsf_Midasin pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC ENSG00000112159 106 0 0 43 35 44.8718 MDN1 0 genome.wustl.edu 37 6 90438695 90438695 + Missense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 90438695 90438695 C A SNP MDN1 ENST00000369393 human ensembl 74_37 -1 known missense c.5304 p.K1768N 0.997 pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pirsf_Midasin pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC ENSG00000112159 113 0 0 36 26 41.9355 BACH2 0 genome.wustl.edu 37 6 90660304 90660304 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 90660304 90660304 G A SNP BACH2 ENST00000257749 human ensembl 74_37 -1 known silent c.1521 p.C507 1.000 NULL pfam_BTB_POZ,pfam_bZIP,superfamily_BTB/POZ_fold,superfamily_TF_DNA-bd,smart_BTB/POZ-like,smart_bZIP,pfscan_BTB/POZ-like,pfscan_bZIP - no_errors BACH2 HGNC ENSG00000112182 87 0 0 44 29 39.726 FHL5 0 genome.wustl.edu 37 6 97052743 97052743 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 97052743 97052743 T C SNP FHL5 ENST00000326771 human ensembl 74_37 +1 known missense c.277 p.C93R 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors FHL5 HGNC ENSG00000112214 109 0 0 45 35 43.75 FAXC 0 genome.wustl.edu 37 6 99739596 99739596 + Silent SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 99739596 99739596 G T SNP FAXC ENST00000389677 human ensembl 74_37 -1 known silent c.924 p.P308 0.413 superfamily_Glutathione-S-Trfase_C-like superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like - no_errors FAXC HGNC ENSG00000146267 197 0 0 160 13 7.51445 PNISR 0 genome.wustl.edu 37 6 99849431 99849431 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 99849431 99849431 A G SNP PNISR ENST00000369239 human ensembl 74_37 -1 known missense c.1403 p.L468P 0.993 NULL NULL - no_errors PNISR HGNC ENSG00000132424 62 0 0 26 12 31.5789 LRCH4 0 genome.wustl.edu 37 7 100175504 100175504 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 100175504 100175504 C T SNP LRCH4 ENST00000310300 human ensembl 74_37 -1 known missense c.980 p.R327Q 1.000 NULL pfam_Leu-rich_rpt,pfam_CH-domain,superfamily_CH-domain,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain - no_errors LRCH4 HGNC ENSG00000077454 65 0 0 71 6 7.79221 TFR2 0 genome.wustl.edu 37 7 100228630 100228630 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 100228630 100228630 G A SNP TFR2 ENST00000431692 human ensembl 74_37 -1 known missense c.895 p.P299S 0.163 NULL NULL - no_errors TFR2 HGNC ENSG00000106327 10 0 0 28 6 17.6471 GIGYF1 0 genome.wustl.edu 37 7 100280085 100280085 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 100280085 100280085 G A SNP GIGYF1 ENST00000275732 human ensembl 74_37 -1 known missense c.2621 p.S874L 0.882 NULL pfam_GYF,superfamily_GYF,smart_GYF,pfscan_GYF - no_errors GIGYF1 HGNC ENSG00000146830 46 0 0 66 28 29.7872 GIGYF1 0 genome.wustl.edu 37 7 100283827 100283827 + Silent SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 100283827 100283827 G T SNP GIGYF1 ENST00000275732 human ensembl 74_37 -1 known silent c.924 p.A308 0.959 NULL pfam_GYF,superfamily_GYF,smart_GYF,pfscan_GYF - no_errors GIGYF1 HGNC ENSG00000146830 82 0 0 80 6 6.97674 ZAN 0 genome.wustl.edu 37 7 100350373 100350373 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 100350373 100350373 C T SNP ZAN ENST00000546292 human ensembl 74_37 +1 known missense c.2645 p.T882M 0.062 NULL pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl_sf,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_MAM_dom - no_errors ZAN HGNC ENSG00000146839 149 0 0 237 68 22.2951 EPHB4 0 genome.wustl.edu 37 7 100417381 100417381 + Silent SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 100417381 100417381 T C SNP EPHB4 ENST00000358173 human ensembl 74_37 -1 known silent c.1095 p.R365 0.012 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHB4 HGNC ENSG00000196411 19 0 0 18 10 35.7143 SRRT 0 genome.wustl.edu 37 7 100482099 100482099 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 100482099 100482099 C T SNP SRRT ENST00000388793 human ensembl 74_37 +1 known missense c.868 p.R290W 0.883 NULL pfam_Arsenite-R_2,pfam_DUF3546 - no_errors SRRT HGNC ENSG00000087087 21 0 0 50 25 33.3333 VGF 0 genome.wustl.edu 37 7 100806877 100806877 + Missense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 100806877 100806877 C A SNP VGF ENST00000249330 human ensembl 74_37 -1 known missense c.1248 p.E416D 0.999 NULL NULL - no_errors VGF HGNC ENSG00000128564 11 0 0 18 5 21.7391 PLOD3 0 genome.wustl.edu 37 7 100859782 100859782 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 100859782 100859782 T C SNP PLOD3 ENST00000223127 human ensembl 74_37 -1 known missense c.247 p.T83A 0.937 NULL pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors PLOD3 HGNC ENSG00000106397 89 0 0 90 5 5.26316 ZNHIT1 0 genome.wustl.edu 37 7 100867096 100867096 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 100867096 100867096 G A SNP ZNHIT1 ENST00000305105 human ensembl 74_37 +1 known missense c.416 p.R139H 1.000 pfam_Znf_HIT,pfscan_Znf_HIT pfam_Znf_HIT,pfscan_Znf_HIT - no_errors ZNHIT1 HGNC ENSG00000106400 117 0 0 120 11 8.39695 LRWD1 0 genome.wustl.edu 37 7 102107885 102107885 + Missense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 102107885 102107885 C A SNP LRWD1 ENST00000292616 human ensembl 74_37 +1 known missense c.532 p.R178S 0.121 NULL pfam_WD40_repeat,pfam_Leu-rich_rpt,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors LRWD1 HGNC ENSG00000161036 45 0 0 46 18 28.125 LRRC17 0 genome.wustl.edu 37 7 102574541 102574541 + Missense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 102574541 102574541 C A SNP LRRC17 ENST00000339431 human ensembl 74_37 +1 known missense c.181 p.H61N 0.998 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRRC17 HGNC ENSG00000128606 61 0 0 59 10 14.4928 FBXL13 0 genome.wustl.edu 37 7 102669858 102669858 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 102669858 102669858 G A SNP FBXL13 ENST00000313221 human ensembl 74_37 -1 known missense c.8 p.P3L 1.000 NULL smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom - no_errors FBXL13 HGNC ENSG00000161040 23 0 0 10 6 37.5 KMT2E 0 genome.wustl.edu 37 7 104752725 104752725 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 104752725 104752725 G A SNP KMT2E ENST00000257745 human ensembl 74_37 +1 known missense c.4522 p.A1508T 0.981 NULL pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_PHD-finger - no_errors KMT2E HGNC ENSG00000005483 84 0 0 75 26 25.7426 SLC26A3 0 genome.wustl.edu 37 7 107417105 107417105 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 107417105 107417105 T C SNP SLC26A3 ENST00000340010 human ensembl 74_37 -1 known missense c.1561 p.K521E 1.000 tigrfam_SulP_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A3 HGNC ENSG00000091138 41 0 0 32 3 8.57143 LAMB1 0 genome.wustl.edu 37 7 107642156 107642156 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 107642156 107642156 G A SNP LAMB1 ENST00000222399 human ensembl 74_37 -1 known silent c.60 p.R20 0.038 NULL pfam_EGF_laminin,pfam_Laminin_N,superfamily_Prefoldin,superfamily_t-SNARE,superfamily_P-loop_NTPase,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB1 HGNC ENSG00000091136 25 0 0 26 14 35 NRCAM 0 genome.wustl.edu 37 7 107880468 107880468 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 107880468 107880468 G A SNP NRCAM ENST00000379028 human ensembl 74_37 -1 known missense c.41 p.A14V 1.000 NULL 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 NRCAM HGNC ENSG00000091129 120 0 0 75 36 32.4324 GPR146 0 genome.wustl.edu 37 7 1097807 1097807 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 1097807 1097807 C T SNP GPR146 ENST00000297468 human ensembl 74_37 +1 known missense c.656 p.P219L 0.999 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR146 HGNC ENSG00000164849 17 0 0 18 12 40 LRRN3 0 genome.wustl.edu 37 7 110763397 110763397 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 110763397 110763397 T C SNP LRRN3 ENST00000308478 human ensembl 74_37 +1 known missense c.569 p.L190P 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRRN3 HGNC ENSG00000173114 114 0 0 64 21 24.7059 DOCK4 0 genome.wustl.edu 37 7 111368610 111368610 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 111368610 111368610 G A SNP DOCK4 ENST00000428084 human ensembl 74_37 -1 known missense c.5648 p.A1883V 0.001 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK4 HGNC ENSG00000128512 73 0 0 80 43 34.9593 GPER1 0 genome.wustl.edu 37 7 1131797 1131797 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 1131797 1131797 G A SNP GPER1 ENST00000297469 human ensembl 74_37 +1 known missense c.433 p.V145I 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPER1 HGNC ENSG00000164850 135 0 0 104 44 29.7297 MDFIC 0 genome.wustl.edu 37 7 114655773 114655773 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 114655773 114655773 G A SNP MDFIC ENST00000393486 human ensembl 74_37 +1 known silent c.525 p.L175 1.000 NULL NULL - no_errors MDFIC HGNC ENSG00000135272 449 0 0 341 65 16.0099 THSD7A 0 genome.wustl.edu 37 7 11676578 11676578 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 11676578 11676578 G A SNP THSD7A ENST00000423059 human ensembl 74_37 -1 known silent c.201 p.G67 0.683 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7A HGNC ENSG00000005108 117 1 0.847458 99 39 28.2609 CFTR 0 genome.wustl.edu 37 7 117199603 117199603 + Missense_Mutation SNP A A C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 117199603 117199603 A C SNP CFTR ENST00000003084 human ensembl 74_37 +1 known missense c.1478 p.Q493P 1.000 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_cAMP_cl_channel pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_CysFib_conduc_TM,tigrfam_cAMP_cl_channel - no_errors CFTR HGNC ENSG00000001626 110 0 0 52 30 36.5854 THSD7A 0 genome.wustl.edu 37 7 11871469 11871469 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 11871469 11871469 A G SNP THSD7A ENST00000423059 human ensembl 74_37 -1 known missense c.104 p.L35P 0.002 NULL pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7A HGNC ENSG00000005108 9 0 0 15 4 21.0526 KCND2 0 genome.wustl.edu 37 7 119915475 119915475 + Silent SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 119915475 119915475 T C SNP KCND2 ENST00000331113 human ensembl 74_37 +1 known silent c.789 p.S263 0.992 pfam_Ion_trans_dom,prints_K_chnl pfam_K_chnl_volt-dep_Kv4_C,pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_Shal-type,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.2,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCND2 HGNC ENSG00000184408 73 0 0 70 30 30 KCND2 0 genome.wustl.edu 37 7 119915782 119915782 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 119915782 119915782 G A SNP KCND2 ENST00000331113 human ensembl 74_37 +1 known missense c.1096 p.V366I 1.000 pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl pfam_K_chnl_volt-dep_Kv4_C,pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_Shal-type,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.2,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCND2 HGNC ENSG00000184408 94 0 0 72 22 23.4043 TSPAN12 0 genome.wustl.edu 37 7 120455811 120455811 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 120455811 120455811 C T SNP TSPAN12 ENST00000222747 human ensembl 74_37 -1 known missense c.332 p.G111D 1.000 pfam_Tetraspanin/Peripherin,prints_Tetraspanin pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN12 HGNC ENSG00000106025 36 0 0 22 9 29.0323 RNF133 0 genome.wustl.edu 37 7 122338733 122338733 + Silent SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 122338733 122338733 T C SNP RNF133 ENST00000340112 human ensembl 74_37 -1 known silent c.240 p.G80 0.926 NULL pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF133 HGNC ENSG00000188050 154 1 0.645161 81 47 36.7188 ASB15 0 genome.wustl.edu 37 7 123269126 123269126 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 123269126 123269126 A G SNP ASB15 ENST00000275699 human ensembl 74_37 +1 known missense c.1078 p.N360D 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt - no_errors ASB15 HGNC ENSG00000146809 129 0 0 73 27 27 HYAL4 0 genome.wustl.edu 37 7 123517154 123517154 + Nonsense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 123517154 123517154 C A SNP HYAL4 ENST00000223026 human ensembl 74_37 +1 known nonsense c.1391 p.S464* 0.002 pirsf_Hyaluronidase pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase,prints_Hyaluronidase - no_errors HYAL4 HGNC ENSG00000106302 110 0 0 75 30 28.5714 GPR37 0 genome.wustl.edu 37 7 124387107 124387107 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 124387107 124387107 G A SNP GPR37 ENST00000303921 human ensembl 74_37 -1 known silent c.1314 p.Y438 0.488 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR37_orph,prints_GPCR_Rhodpsn - no_errors GPR37 HGNC ENSG00000170775 121 0 0 92 37 28.6822 RBM28 0 genome.wustl.edu 37 7 127950948 127950948 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 127950948 127950948 T C SNP RBM28 ENST00000223073 human ensembl 74_37 -1 known missense c.2182 p.T728A 0.258 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM28 HGNC ENSG00000106344 96 0 0 84 35 29.4118 FAM71F1 0 genome.wustl.edu 37 7 128356940 128356940 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 128356940 128356940 T C SNP FAM71F1 ENST00000315184 human ensembl 74_37 +1 known missense c.323 p.V108A 0.997 NULL pfam_DUF3699 - no_errors FAM71F1 HGNC ENSG00000135248 49 0 0 54 9 14.2857 CCDC136 0 genome.wustl.edu 37 7 128441353 128441353 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 128441353 128441353 C T SNP CCDC136 ENST00000297788 human ensembl 74_37 +1 known missense c.460 p.R154W 1.000 NULL NULL - no_errors CCDC136 HGNC ENSG00000128596 33 0 0 43 12 21.8182 FLNC 0 genome.wustl.edu 37 7 128484941 128484941 + Missense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 128484941 128484941 C A SNP FLNC ENST00000325888 human ensembl 74_37 +1 known missense c.3422 p.P1141H 1.000 pfam_Filamin/ABP280_repeat-like,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNC HGNC ENSG00000128591 128 0 0 109 37 25.3425 IRF5 0 genome.wustl.edu 37 7 128587396 128587396 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 128587396 128587396 C T SNP IRF5 ENST00000357234 human ensembl 74_37 +1 known silent c.594 p.P198 0.000 NULL pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF5 HGNC ENSG00000128604 27 0 0 21 12 36.3636 SMO 0 genome.wustl.edu 37 7 128845470 128845470 + Nonsense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 128845470 128845470 G A SNP SMO ENST00000249373 human ensembl 74_37 +1 known nonsense c.767 p.W256* 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 155 0 0 136 57 29.5337 STRIP2 0 genome.wustl.edu 37 7 129096388 129096388 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 129096388 129096388 C T SNP STRIP2 ENST00000249344 human ensembl 74_37 +1 known missense c.943 p.R315C 1.000 pfam_N1221 pfam_DUF3402,pfam_N1221 - no_errors STRIP2 HGNC ENSG00000128578 90 0 0 112 38 25.3333 CPA1 0 genome.wustl.edu 37 7 130025744 130025744 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 130025744 130025744 G A SNP CPA1 ENST00000011292 human ensembl 74_37 +1 known missense c.1052 p.G351D 1.000 pfam_Peptidase_M14,smart_Peptidase_M14 pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPA1 HGNC ENSG00000091704 37 0 0 26 11 29.7297 PODXL 0 genome.wustl.edu 37 7 131189178 131189178 + Missense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 131189178 131189178 C A SNP PODXL ENST00000541194 human ensembl 74_37 -1 known missense c.1575 p.Q525H 1.000 pfam_CD34/Podocalyxin,pirsf_Podocalyxin-like_p1 pfam_CD34/Podocalyxin,pirsf_Podocalyxin-like_p1 - no_errors PODXL HGNC ENSG00000128567 147 0 0 104 27 20.6107 PODXL 0 genome.wustl.edu 37 7 131195724 131195724 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 131195724 131195724 C T SNP PODXL ENST00000541194 human ensembl 74_37 -1 known missense c.575 p.R192Q 0.000 pirsf_Podocalyxin-like_p1 pfam_CD34/Podocalyxin,pirsf_Podocalyxin-like_p1 - no_errors PODXL HGNC ENSG00000128567 121 0 0 108 42 28 PLXNA4 0 genome.wustl.edu 37 7 131887472 131887472 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 131887472 131887472 G A SNP PLXNA4 ENST00000321063 human ensembl 74_37 -1 known missense c.2519 p.A840V 0.571 pfam_Plexin_repeat,superfamily_Plexin-like_fold,smart_Plexin-like_fold pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA4 HGNC ENSG00000221866 60 0 0 51 19 27.1429 PLXNA4 0 genome.wustl.edu 37 7 132174163 132174163 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 132174163 132174163 C T SNP PLXNA4 ENST00000321063 human ensembl 74_37 -1 known missense c.1259 p.R420H 1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA4 HGNC ENSG00000221866 62 0 0 36 7 16.2791 BPGM 0 genome.wustl.edu 37 7 134346399 134346399 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 134346399 134346399 C T SNP BPGM ENST00000344924 human ensembl 74_37 +1 known missense c.140 p.A47V 0.994 pfam_His_Pase_superF_clade-1,smart_His_Pase_superF_clade-1,tigrfam_Phosphogly_mut1 pfam_His_Pase_superF_clade-1,smart_His_Pase_superF_clade-1,tigrfam_Phosphogly_mut1 - no_errors BPGM HGNC ENSG00000172331 63 0 0 50 27 35.0649 CALD1 0 genome.wustl.edu 37 7 134625972 134625972 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 134625972 134625972 A G SNP CALD1 ENST00000361388 human ensembl 74_37 +1 known missense c.829 p.T277A 0.200 pfam_Caldesmon_LSP pfam_Caldesmon_LSP,prints_Caldesmon - no_errors CALD1 HGNC ENSG00000122786 61 0 0 46 12 20.6897 TMEM140 0 genome.wustl.edu 37 7 134849267 134849267 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 134849267 134849267 T C SNP TMEM140 ENST00000275767 human ensembl 74_37 +1 known missense c.74 p.I25T 0.110 NULL NULL - no_errors TMEM140 HGNC ENSG00000146859 127 0 0 113 43 27.5641 NUP205 0 genome.wustl.edu 37 7 135333151 135333151 + Splice_Site SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 135333151 135333151 G A SNP NUP205 ENST00000285968 human ensembl 74_37 +1 known splice_site c.5887-1 e43-1 1.000 - - - no_errors NUP205 HGNC ENSG00000155561 70 0 0 51 14 21.5385 SLC13A4 0 genome.wustl.edu 37 7 135370392 135370392 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 135370392 135370392 A G SNP SLC13A4 ENST00000354042 human ensembl 74_37 -1 known missense c.1483 p.S495P 1.000 pfam_Na/sul_symport,pfam_Cit_transptr-like_dom,pfam_DctM pfam_Na/sul_symport,pfam_Cit_transptr-like_dom,pfam_DctM - no_errors SLC13A4 HGNC ENSG00000164707 226 1 0.440529 169 54 24.2152 AKR1D1 0 genome.wustl.edu 37 7 137790156 137790156 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 137790156 137790156 A G SNP AKR1D1 ENST00000242375 human ensembl 74_37 +1 known missense c.560 p.H187R 0.963 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr - no_errors AKR1D1 HGNC ENSG00000122787 193 0 0 222 73 24.7458 ZC3HAV1 0 genome.wustl.edu 37 7 138768595 138768595 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 138768595 138768595 C T SNP ZC3HAV1 ENST00000242351 human ensembl 74_37 -1 known missense c.628 p.D210N 0.000 NULL pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors ZC3HAV1 HGNC ENSG00000105939 62 0 0 68 22 24.4444 KLRG2 0 genome.wustl.edu 37 7 139168208 139168208 + Missense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 139168208 139168208 C A SNP KLRG2 ENST00000340940 human ensembl 74_37 -1 known missense c.181 p.G61C 0.000 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors KLRG2 HGNC ENSG00000188883 27 0 0 39 5 11.3636 HIPK2 0 genome.wustl.edu 37 7 139416624 139416624 + Silent SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 139416624 139416624 G T SNP HIPK2 ENST00000406875 human ensembl 74_37 -1 known silent c.210 p.S70 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors HIPK2 HGNC ENSG00000064393 43 0 0 46 16 25.8065 TBXAS1 0 genome.wustl.edu 37 7 139719836 139719836 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 139719836 139719836 G A SNP TBXAS1 ENST00000414508 human ensembl 74_37 +1 known missense c.1379 p.S460N 1.000 NULL pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors TBXAS1 HGNC ENSG00000059377 62 0 0 53 20 27.3973 PARP12 0 genome.wustl.edu 37 7 139741630 139741630 + Nonsense_Mutation SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 139741630 139741630 G T SNP PARP12 ENST00000263549 human ensembl 74_37 -1 known nonsense c.996 p.C332* 0.000 pfscan_WWE-dom pfam_Poly(ADP-ribose)pol_cat_dom,pfam_Znf_CCCH,smart_Znf_CCCH,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP12 HGNC ENSG00000059378 127 0 0 109 41 27.3333 DENND2A 0 genome.wustl.edu 37 7 140221778 140221778 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 140221778 140221778 G A SNP DENND2A ENST00000275884 human ensembl 74_37 -1 known missense c.2788 p.R930W 1.000 pfam_dDENN_dom,smart_dDENN_dom,pfscan_dDENN_dom pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND2A HGNC ENSG00000146966 73 0 0 57 36 38.7097 DENND2A 0 genome.wustl.edu 37 7 140285507 140285507 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 140285507 140285507 G A SNP DENND2A ENST00000275884 human ensembl 74_37 -1 known missense c.1127 p.P376L 0.996 NULL pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND2A HGNC ENSG00000146966 135 0 0 108 39 26.5306 MGAM 0 genome.wustl.edu 37 7 141754637 141754637 + Silent SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 141754637 141754637 A G SNP MGAM ENST00000549489 human ensembl 74_37 +1 known silent c.3243 p.Q1081 0.002 superfamily_Gal_mutarotase_SF_dom pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil - no_errors MGAM HGNC ENSG00000257335 165 0 0 125 54 30.1676 PRSS3P2 0 genome.wustl.edu 37 7 142480049 142480049 + RNA SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 142480049 142480049 G A SNP PRSS3P2 ENST00000603901 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors PRSS3P2 HGNC ENSG00000250606 138 1 0.719424 132 33 20 TRPV6 0 genome.wustl.edu 37 7 142574967 142574967 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 142574967 142574967 G A SNP TRPV6 ENST00000359396 human ensembl 74_37 -1 known missense c.415 p.R139C 0.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV5/TRPV6,prints_TRPV6_channel,prints_Ankyrin_rpt,tigrfam_TRP_channel - no_errors TRPV6 HGNC ENSG00000165125 123 0 0 116 32 21.6216 EPHA1 0 genome.wustl.edu 37 7 143097047 143097047 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 143097047 143097047 G A SNP EPHA1 ENST00000275815 human ensembl 74_37 -1 known missense c.532 p.R178C 0.026 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,superfamily_SAM/pointed,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA1 HGNC ENSG00000146904 32 0 0 30 21 41.1765 FAM115A 0 genome.wustl.edu 37 7 143573685 143573685 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 143573685 143573685 G A SNP FAM115A ENST00000479870 human ensembl 74_37 -1 known missense c.17 p.A6V 1.000 NULL NULL - no_errors FAM115A HGNC ENSG00000198420 85 0 0 60 34 36.1702 OR2A25 0 genome.wustl.edu 37 7 143771510 143771510 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 143771510 143771510 G A SNP OR2A25 ENST00000408898 human ensembl 74_37 +1 known silent c.198 p.A66 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2A25 HGNC ENSG00000221933 115 0 0 109 36 24.8276 OR2A12 0 genome.wustl.edu 37 7 143793059 143793059 + Missense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 143793059 143793059 C A SNP OR2A12 ENST00000408949 human ensembl 74_37 +1 known missense c.859 p.L287I 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2A12 HGNC ENSG00000221858 388 0 0 289 98 25.323 CNTNAP2 0 genome.wustl.edu 37 7 148112638 148112638 + Missense_Mutation SNP C C G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 148112638 148112638 C G SNP CNTNAP2 ENST00000361727 human ensembl 74_37 +1 known missense c.3926 p.A1309G 1.000 NULL pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP2 HGNC ENSG00000174469 79 0 0 69 27 28.125 CUL1 0 genome.wustl.edu 37 7 148451198 148451198 + Nonsense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 148451198 148451198 C T SNP CUL1 ENST00000325222 human ensembl 74_37 +1 known nonsense c.271 p.R91* 1.000 pfam_Cullin_N,superfamily_Cullin_repeat-like_dom pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL1 HGNC ENSG00000055130 26 0 0 29 3 9.375 ZNF786 0 genome.wustl.edu 37 7 148769470 148769470 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 148769470 148769470 G A SNP ZNF786 ENST00000491431 human ensembl 74_37 -1 known missense c.394 p.P132S 0.015 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF786 HGNC ENSG00000197362 27 0 0 25 11 30.5556 MICALL2 0 genome.wustl.edu 37 7 1488346 1488346 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 1488346 1488346 C T SNP MICALL2 ENST00000297508 human ensembl 74_37 -1 known missense c.244 p.E82K 0.996 pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM - no_errors MICALL2 HGNC ENSG00000164877 138 0 0 160 50 23.8095 ZNF783 0 genome.wustl.edu 37 7 148979127 148979127 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 148979127 148979127 T C SNP ZNF783 ENST00000434415 human ensembl 74_37 +1 known missense c.1334 p.F445S 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_DUF3669_Znf,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors ZNF783 HGNC ENSG00000204946 15 0 0 31 9 22.5 ZNF783 0 genome.wustl.edu 37 7 148979206 148979206 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 148979206 148979206 C T SNP ZNF783 ENST00000434415 human ensembl 74_37 +1 known silent c.1413 p.C471 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_DUF3669_Znf,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors ZNF783 HGNC ENSG00000204946 42 0 0 41 13 24.0741 SSPO 0 genome.wustl.edu 37 7 149477454 149477454 + RNA SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 149477454 149477454 C T SNP SSPO ENST00000262089 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SSPO HGNC ENSG00000197558 18 0 0 17 9 34.6154 SSPO 0 genome.wustl.edu 37 7 149497409 149497409 + RNA SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 149497409 149497409 G A SNP SSPO ENST00000378016 human ensembl 74_37 +1 known rna NULL NULL 0.033 - - - no_errors SSPO HGNC ENSG00000197558 16 0 0 16 9 36 SSPO 0 genome.wustl.edu 37 7 149500066 149500066 + RNA SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 149500066 149500066 G T SNP SSPO ENST00000378016 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors SSPO HGNC ENSG00000197558 10 0 0 14 8 36.3636 REPIN1 0 genome.wustl.edu 37 7 150069776 150069776 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 150069776 150069776 C T SNP REPIN1 ENST00000489432 human ensembl 74_37 +1 known silent c.1617 p.T539 0.972 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors REPIN1 HGNC ENSG00000214022 75 0 0 90 37 29.1339 TMEM176B 0 genome.wustl.edu 37 7 150493585 150493585 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 150493585 150493585 C T SNP TMEM176B ENST00000326442 human ensembl 74_37 -1 known missense c.73 p.V25I 0.568 NULL pfam_CD20-like,superfamily_MFS_dom_general_subst_transpt - no_errors TMEM176B HGNC ENSG00000106565 81 0 0 75 4 5.06329 AOC1 0 genome.wustl.edu 37 7 150554719 150554719 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 150554719 150554719 C T SNP AOC1 ENST00000416793 human ensembl 74_37 +1 known silent c.1161 p.P387 0.487 pfam_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_C pfam_Cu_amine_oxidase_C,pfam_Cu_amine_oxidase_N2,pfam_Cu_amine_oxidase_N3,superfamily_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase - no_errors AOC1 HGNC ENSG00000002726 135 0 0 153 41 21.134 AOC1 0 genome.wustl.edu 37 7 150555029 150555029 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 150555029 150555029 A G SNP AOC1 ENST00000416793 human ensembl 74_37 +1 known missense c.1471 p.T491A 1.000 pfam_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_C pfam_Cu_amine_oxidase_C,pfam_Cu_amine_oxidase_N2,pfam_Cu_amine_oxidase_N3,superfamily_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase - no_errors AOC1 HGNC ENSG00000002726 98 0 0 88 28 24.1379 AOC1 0 genome.wustl.edu 37 7 150558050 150558050 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 150558050 150558050 C T SNP AOC1 ENST00000416793 human ensembl 74_37 +1 known missense c.2066 p.T689M 1.000 pfam_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_C,prints_Cu_amine_oxidase pfam_Cu_amine_oxidase_C,pfam_Cu_amine_oxidase_N2,pfam_Cu_amine_oxidase_N3,superfamily_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase - no_errors AOC1 HGNC ENSG00000002726 87 0 0 85 23 21.2963 KCNH2 0 genome.wustl.edu 37 7 150656686 150656686 + Missense_Mutation SNP C C G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 150656686 150656686 C G SNP KCNH2 ENST00000262186 human ensembl 74_37 -1 known missense c.446 p.G149A 0.016 NULL pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_cNMP-bd_dom,pfam_PAS_fold,pfam_PAS_fold_3,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH2 HGNC ENSG00000055118 82 0 0 72 20 21.7391 KCNH2 0 genome.wustl.edu 37 7 150674958 150674958 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 150674958 150674958 A G SNP KCNH2 ENST00000262186 human ensembl 74_37 -1 known missense c.44 p.L15P 1.000 NULL pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_cNMP-bd_dom,pfam_PAS_fold,pfam_PAS_fold_3,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH2 HGNC ENSG00000055118 25 0 0 23 6 20.6897 ATG9B 0 genome.wustl.edu 37 7 150721263 150721263 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 150721263 150721263 G A SNP ATG9B ENST00000377974 human ensembl 74_37 -1 known missense c.248 p.A83V 0.359 NULL pfam_Autophagy-rel_prot_9 - no_errors ATG9B HGNC ENSG00000181652 27 0 0 21 7 25 ABCB8 0 genome.wustl.edu 37 7 150737962 150737962 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 150737962 150737962 C T SNP ABCB8 ENST00000297504 human ensembl 74_37 +1 known missense c.1487 p.T496M 0.943 superfamily_P-loop_NTPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB8 HGNC ENSG00000197150 22 0 0 20 7 25.9259 ASIC3 0 genome.wustl.edu 37 7 150749682 150749682 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 150749682 150749682 C T SNP ASIC3 ENST00000297512 human ensembl 74_37 +1 known missense c.1559 p.P520L 0.096 NULL pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC - no_errors ASIC3 HGNC ENSG00000213199 124 0 0 161 9 5.29412 SLC4A2 0 genome.wustl.edu 37 7 150761736 150761736 + Missense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 150761736 150761736 C A SNP SLC4A2 ENST00000413384 human ensembl 74_37 +1 known missense c.341 p.P114Q 0.985 NULL pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange,prints_Anion_exchange_2,tigrfam_HCO3_transpt_euk - no_errors SLC4A2 HGNC ENSG00000164889 54 0 0 69 26 27.3684 SLC4A2 0 genome.wustl.edu 37 7 150771106 150771106 + RNA SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 150771106 150771106 G A SNP SLC4A2 ENST00000482697 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors SLC4A2 HGNC ENSG00000164889 82 0 0 77 39 33.6207 FASTK 0 genome.wustl.edu 37 7 150775020 150775020 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 150775020 150775020 G A SNP FASTK ENST00000297532 human ensembl 74_37 -1 known missense c.985 p.P329S 1.000 pfam_FAST_Leu-rich pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP - no_errors FASTK HGNC ENSG00000164896 129 0 0 97 27 21.7742 FASTK 0 genome.wustl.edu 37 7 150775740 150775740 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 150775740 150775740 T C SNP FASTK ENST00000297532 human ensembl 74_37 -1 known missense c.734 p.Q245R 1.000 NULL pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP - no_errors FASTK HGNC ENSG00000164896 42 0 0 41 21 33.871 FASTK 0 genome.wustl.edu 37 7 150776883 150776883 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 150776883 150776883 T C SNP FASTK ENST00000297532 human ensembl 74_37 -1 known missense c.209 p.D70G 1.000 NULL pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP - no_errors FASTK HGNC ENSG00000164896 17 0 0 22 7 24.1379 AGAP3 0 genome.wustl.edu 37 7 150839592 150839592 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 150839592 150839592 G A SNP AGAP3 ENST00000397238 human ensembl 74_37 +1 known missense c.2144 p.R715H 1.000 pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP pfam_ArfGAP,pfam_MIRO-like,pfam_Small_GTPase,pfam_Pleckstrin_homology,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Pleckstrin_homology,smart_ArfGAP,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP,prints_Small_GTPase - no_errors AGAP3 HGNC ENSG00000133612 87 0 0 72 24 25 ASB10 0 genome.wustl.edu 37 7 150873338 150873338 + Missense_Mutation SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 150873338 150873338 G T SNP ASB10 ENST00000422024 human ensembl 74_37 -1 known missense c.1400 p.P467H 1.000 pfam_SOCS_C,smart_SOCS_C,pfscan_SOCS_C pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt - no_errors ASB10 HGNC ENSG00000146926 56 0 0 54 5 8.47458 SMARCD3 0 genome.wustl.edu 37 7 150937242 150937242 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 150937242 150937242 G A SNP SMARCD3 ENST00000262188 human ensembl 74_37 -1 known silent c.1129 p.L377 1.000 NULL pfam_SWIB_MDM2_domain,superfamily_SWIB_MDM2_domain,smart_SWIB_domain - no_errors SMARCD3 HGNC ENSG00000082014 86 0 0 61 26 29.8851 WDR86 0 genome.wustl.edu 37 7 151093046 151093046 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 151093046 151093046 G A SNP WDR86 ENST00000477459 human ensembl 74_37 -1 known missense c.158 p.A53V 1.000 superfamily_Quinonprotein_ADH-like_supfam,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR86 HGNC ENSG00000187260 15 0 0 14 3 17.6471 DPP6 0 genome.wustl.edu 37 7 154561143 154561143 + Silent SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 154561143 154561143 A G SNP DPP6 ENST00000377770 human ensembl 74_37 +1 known silent c.900 p.T300 0.930 pfam_Peptidase_S9B pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_PD40 - no_errors DPP6 HGNC ENSG00000130226 82 0 0 48 15 23.8095 DPP6 0 genome.wustl.edu 37 7 154595578 154595578 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 154595578 154595578 A G SNP DPP6 ENST00000377770 human ensembl 74_37 +1 known missense c.1412 p.N471S 1.000 pfam_Peptidase_S9B pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_PD40 - no_errors DPP6 HGNC ENSG00000130226 37 0 0 43 10 18.8679 PAXIP1 0 genome.wustl.edu 37 7 154738222 154738222 + Missense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 154738222 154738222 C A SNP PAXIP1 ENST00000397192 human ensembl 74_37 -1 known missense c.3133 p.D1045Y 1.000 smart_BRCT_dom pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom - no_errors PAXIP1 HGNC ENSG00000157212 70 0 0 72 4 5.26316 HTR5A 0 genome.wustl.edu 37 7 154876139 154876139 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 154876139 154876139 C T SNP HTR5A ENST00000287907 human ensembl 74_37 +1 known missense c.1016 p.T339M 1.000 prints_GPCR_Rhodpsn,prints_5HT_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT5A_rcpt,prints_5HT_rcpt - no_errors HTR5A HGNC ENSG00000157219 168 0 0 168 9 5.08475 ENSG00000224903 0 genome.wustl.edu 37 7 156447220 156447220 + RNA SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 156447220 156447220 C T SNP ENSG00000224903 ENST00000455709 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AC005534.8 Clone_based_vega_gene ENSG00000224903 27 0 0 23 11 32.3529 RNF32 0 genome.wustl.edu 37 7 156451251 156451251 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 156451251 156451251 T C SNP RNF32 ENST00000317955 human ensembl 74_37 +1 known missense c.671 p.F224S 1.000 NULL pfam_Znf_C3HC4_RING-type,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Znf_RING,pfscan_IQ_motif_EF-hand-BS,pfscan_Znf_RING - no_errors RNF32 HGNC ENSG00000105982 57 0 0 37 20 35.0877 ANKMY2 0 genome.wustl.edu 37 7 16685330 16685330 + RNA SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 16685330 16685330 G A SNP ANKMY2 ENST00000421746 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ANKMY2 HGNC ENSG00000106524 30 0 0 27 2 6.89655 HDAC9 0 genome.wustl.edu 37 7 18625006 18625006 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 18625006 18625006 G A SNP HDAC9 ENST00000441542 human ensembl 74_37 +1 known missense c.125 p.R42H 1.000 pfam_Hist_deacetylase_Gln_rich_N,pirsf_Histone_deAcase_II_euk pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse - no_errors HDAC9 HGNC ENSG00000048052 115 0 0 70 31 30.6931 SP8 0 genome.wustl.edu 37 7 20824196 20824196 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 20824196 20824196 G A SNP SP8 ENST00000418710 human ensembl 74_37 -1 known missense c.1240 p.R414C 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2,prints_Antifreeze_1 - no_errors SP8 HGNC ENSG00000164651 13 0 0 28 10 26.3158 DNAH11 0 genome.wustl.edu 37 7 21657286 21657286 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 21657286 21657286 G A SNP DNAH11 ENST00000328843 human ensembl 74_37 +1 known missense c.4160 p.G1387D 0.988 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH11 HGNC ENSG00000105877 27 0 0 37 19 33.9286 DNAH11 0 genome.wustl.edu 37 7 21742330 21742330 + Missense_Mutation SNP T T A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 21742330 21742330 T A SNP DNAH11 ENST00000328843 human ensembl 74_37 +1 known missense c.6204 p.D2068E 1.000 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH11 HGNC ENSG00000105877 33 0 0 16 8 33.3333 CDCA7L 0 genome.wustl.edu 37 7 21945971 21945971 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 21945971 21945971 A G SNP CDCA7L ENST00000406877 human ensembl 74_37 -1 known missense c.857 p.F286S 1.000 NULL pfam_Znf-4CXXC_R1 - no_errors CDCA7L HGNC ENSG00000164649 194 0 0 176 12 6.38298 SNX8 0 genome.wustl.edu 37 7 2297144 2297144 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 2297144 2297144 C T SNP SNX8 ENST00000222990 human ensembl 74_37 -1 known silent c.990 p.L330 1.000 NULL pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX8 HGNC ENSG00000106266 32 0 0 28 8 22.2222 SNX8 0 genome.wustl.edu 37 7 2311527 2311527 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 2311527 2311527 G A SNP SNX8 ENST00000222990 human ensembl 74_37 -1 known silent c.498 p.S166 0.235 pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX8 HGNC ENSG00000106266 36 0 0 23 9 28.125 FAM221A 0 genome.wustl.edu 37 7 23729040 23729040 + Missense_Mutation SNP A A T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 23729040 23729040 A T SNP FAM221A ENST00000344962 human ensembl 74_37 +1 known missense c.392 p.D131V 0.998 NULL NULL - no_errors FAM221A HGNC ENSG00000188732 75 0 0 54 18 25 BRAT1 0 genome.wustl.edu 37 7 2583333 2583333 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 2583333 2583333 A G SNP BRAT1 ENST00000340611 human ensembl 74_37 -1 known missense c.694 p.W232R 0.984 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold - no_errors BRAT1 HGNC ENSG00000106009 73 0 0 102 30 22.7273 TTYH3 0 genome.wustl.edu 37 7 2687708 2687708 + RNA SNP C C G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 2687708 2687708 C G SNP TTYH3 ENST00000477439 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors TTYH3 HGNC ENSG00000136295 45 0 0 52 15 22.3881 TRIL 0 genome.wustl.edu 37 7 28997640 28997640 + RNA SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 28997640 28997640 C T SNP TRIL ENST00000322982 human ensembl 74_37 -1 known rna NULL NULL 0.979 - - - no_errors TRIL HGNC ENSG00000176734 19 0 0 23 11 32.3529 CARD11 0 genome.wustl.edu 37 7 2974165 2974165 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 2974165 2974165 C T SNP CARD11 ENST00000396946 human ensembl 74_37 -1 known silent c.1440 p.S480 0.001 NULL pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,superfamily_PDZ,pfscan_CARD - no_errors CARD11 HGNC ENSG00000198286 48 0 0 49 13 20.9677 CARD11 0 genome.wustl.edu 37 7 2985499 2985499 + Silent SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 2985499 2985499 T C SNP CARD11 ENST00000396946 human ensembl 74_37 -1 known silent c.312 p.K104 0.644 pfam_CARD,superfamily_DEATH-like_dom,pfscan_CARD pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,superfamily_PDZ,pfscan_CARD - no_errors CARD11 HGNC ENSG00000198286 230 0 0 251 85 25.2976 PLEKHA8 0 genome.wustl.edu 37 7 30094482 30094482 + Splice_Site SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 30094482 30094482 G A SNP PLEKHA8 ENST00000449726 human ensembl 74_37 +1 known splice_site c.953+1 e8+1 1.000 - - - no_errors PLEKHA8 HGNC ENSG00000106086 120 1 0.826446 68 21 23.5955 INMT 0 genome.wustl.edu 37 7 30795070 30795070 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 30795070 30795070 G A SNP INMT ENST00000013222 human ensembl 74_37 +1 known missense c.395 p.R132Q 0.942 pfam_NNMT_TEMT_trans,pirsf_NNMT_TEMT_trans pfam_NNMT_TEMT_trans,pirsf_NNMT_TEMT_trans - no_errors INMT HGNC ENSG00000241644 46 0 0 48 9 15.7895 FAM188B 0 genome.wustl.edu 37 7 30825421 30825421 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 30825421 30825421 C T SNP FAM188B ENST00000265299 human ensembl 74_37 +1 known missense c.476 p.P159L 0.003 NULL NULL - no_errors FAM188B HGNC ENSG00000106125 144 0 0 92 37 28.6822 FAM188B 0 genome.wustl.edu 37 7 30921938 30921938 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 30921938 30921938 G A SNP FAM188B ENST00000265299 human ensembl 74_37 +1 known missense c.2114 p.G705D 1.000 NULL NULL - no_errors FAM188B HGNC ENSG00000106125 47 0 0 52 4 7.14286 PDE1C 0 genome.wustl.edu 37 7 31918629 31918629 + Missense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 31918629 31918629 C A SNP PDE1C ENST00000321453 human ensembl 74_37 -1 known missense c.405 p.Q135H 1.000 pfam_PDEase_N pfam_PDEase_catalytic_dom,pfam_PDEase_N,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE1C HGNC ENSG00000154678 127 0 0 135 21 13.4615 BMPER 0 genome.wustl.edu 37 7 34097736 34097736 + Silent SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 34097736 34097736 T C SNP BMPER ENST00000297161 human ensembl 74_37 +1 known silent c.993 p.C331 1.000 pfam_VWF_C,smart_VWF_C,pfscan_VWF_C pfam_VWF_type-D,pfam_VWF_C,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_C,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,pfscan_VWF_C - no_errors BMPER HGNC ENSG00000164619 66 0 0 43 22 33.8462 BMPER 0 genome.wustl.edu 37 7 34118552 34118552 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 34118552 34118552 T C SNP BMPER ENST00000297161 human ensembl 74_37 +1 known missense c.1162 p.Y388H 1.000 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_VWF_C,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_C,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,pfscan_VWF_C - no_errors BMPER HGNC ENSG00000164619 141 0 0 112 60 34.8837 DPY19L2P1 0 genome.wustl.edu 37 7 35131480 35131480 + RNA SNP A A T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 35131480 35131480 A T SNP DPY19L2P1 ENST00000436258 human ensembl 74_37 -1 known rna NULL NULL 0.997 - - - no_errors DPY19L2P1 HGNC ENSG00000189212 60 0 0 60 4 6.25 EEPD1 0 genome.wustl.edu 37 7 36194750 36194750 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 36194750 36194750 G A SNP EEPD1 ENST00000242108 human ensembl 74_37 +1 known missense c.817 p.V273M 0.018 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase pfam_HhH_motif,pfam_Endo/exonuclease/phosphatase,pfam_GspK,superfamily_Endo/exonuclease/phosphatase,superfamily_RuvA_2-like,smart_Hlx-hairpin-Hlx_DNA-bd_motif,tigrfam_Competence_ComEA_HhH - no_errors EEPD1 HGNC ENSG00000122547 46 0 0 52 10 16.129 POU6F2 0 genome.wustl.edu 37 7 39500290 39500290 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 39500290 39500290 C T SNP POU6F2 ENST00000403058 human ensembl 74_37 +1 known missense c.1547 p.A516V 1.000 pfam_POU_specific,superfamily_Lambda_DNA-bd_dom,smart_POU_specific,pfscan_POU_specific pfam_POU_specific,pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Lambda_DNA-bd_dom,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU6F2 HGNC ENSG00000106536 18 0 0 19 5 20.8333 POU6F2 0 genome.wustl.edu 37 7 39504019 39504019 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 39504019 39504019 C T SNP POU6F2 ENST00000403058 human ensembl 74_37 +1 known missense c.1810 p.P604S 1.000 NULL pfam_POU_specific,pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Lambda_DNA-bd_dom,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU6F2 HGNC ENSG00000106536 48 0 0 54 5 8.47458 CDK13 0 genome.wustl.edu 37 7 40134449 40134449 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 40134449 40134449 C T SNP CDK13 ENST00000181839 human ensembl 74_37 +1 known missense c.4409 p.P1470L 0.990 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CDK13 HGNC ENSG00000065883 75 0 0 62 36 36.7347 SDK1 0 genome.wustl.edu 37 7 4153057 4153057 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 4153057 4153057 C T SNP SDK1 ENST00000404826 human ensembl 74_37 +1 known missense c.3571 p.R1191W 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors SDK1 HGNC ENSG00000146555 189 0 0 202 42 17.2131 SDK1 0 genome.wustl.edu 37 7 4169577 4169577 + Missense_Mutation SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 4169577 4169577 G T SNP SDK1 ENST00000404826 human ensembl 74_37 +1 known missense c.3977 p.R1326M 0.001 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors SDK1 HGNC ENSG00000146555 70 0 0 89 24 21.2389 GLI3 0 genome.wustl.edu 37 7 42018275 42018275 + Nonsense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 42018275 42018275 G A SNP GLI3 ENST00000395925 human ensembl 74_37 -1 known nonsense c.1570 p.Q524* 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI3 HGNC ENSG00000106571 102 0 0 71 4 5.33333 COA1 0 genome.wustl.edu 37 7 43687183 43687183 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 43687183 43687183 G A SNP COA1 ENST00000223336 human ensembl 74_37 -1 known silent c.66 p.H22 0.000 NULL NULL - no_errors COA1 HGNC ENSG00000106603 68 0 0 70 34 32.6923 URGCP 0 genome.wustl.edu 37 7 43916483 43916483 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 43916483 43916483 C T SNP URGCP ENST00000453200 human ensembl 74_37 -1 known missense c.2579 p.R860Q 0.855 NULL superfamily_P-loop_NTPase,prints_GTP_binding_domain - no_errors URGCP HGNC ENSG00000106608 66 0 0 48 23 32.3944 LINC00957 0 genome.wustl.edu 37 7 44078881 44078881 + RNA SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 44078881 44078881 A G SNP LINC00957 ENST00000416824 human ensembl 74_37 +1 known rna NULL NULL 0.111 - - - no_errors LINC00957 HGNC ENSG00000235314 8 0 0 17 8 32 DBNL 0 genome.wustl.edu 37 7 44100420 44100420 + Missense_Mutation SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 44100420 44100420 G T SNP DBNL ENST00000468694 human ensembl 74_37 +1 known missense c.1225 p.G409C 0.931 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_Actin-bd_cofilin/tropomyosin,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Actin-bd_cofilin/tropomyosin,smart_SH3_domain,pfscan_SH3_domain - no_errors DBNL HGNC ENSG00000136279 67 0 0 54 20 27.027 AEBP1 0 genome.wustl.edu 37 7 44150385 44150385 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 44150385 44150385 T C SNP AEBP1 ENST00000223357 human ensembl 74_37 +1 known missense c.1462 p.Y488H 1.000 pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom pfam_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 AEBP1 HGNC ENSG00000106624 161 1 0.617284 164 61 27.1111 AEBP1 0 genome.wustl.edu 37 7 44151520 44151520 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 44151520 44151520 G A SNP AEBP1 ENST00000223357 human ensembl 74_37 +1 known silent c.1908 p.L636 0.662 pfam_Peptidase_M14,smart_Peptidase_M14 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 AEBP1 HGNC ENSG00000106624 39 0 0 40 17 29.8246 NPC1L1 0 genome.wustl.edu 37 7 44579394 44579394 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 44579394 44579394 C T SNP NPC1L1 ENST00000289547 human ensembl 74_37 -1 known missense c.602 p.R201H 1.000 NULL pfam_Patched,pfscan_SSD - no_errors NPC1L1 HGNC ENSG00000015520 99 0 0 133 10 6.99301 DDX56 0 genome.wustl.edu 37 7 44612258 44612258 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 44612258 44612258 G A SNP DDX56 ENST00000258772 human ensembl 74_37 -1 known missense c.469 p.R157C 0.841 pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,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 DDX56 HGNC ENSG00000136271 172 0 0 134 46 25.5556 OGDH 0 genome.wustl.edu 37 7 44736535 44736535 + Silent SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 44736535 44736535 T C SNP OGDH ENST00000222673 human ensembl 74_37 +1 known silent c.1923 p.T641 0.001 pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 pfam_DH_E1,pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 - no_errors OGDH HGNC ENSG00000105953 33 0 0 22 11 33.3333 OGDH 0 genome.wustl.edu 37 7 44737841 44737841 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 44737841 44737841 C T SNP OGDH ENST00000222673 human ensembl 74_37 +1 known silent c.2409 p.N803 0.608 pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 pfam_DH_E1,pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 - no_errors OGDH HGNC ENSG00000105953 68 0 0 48 10 17.2414 PURB 0 genome.wustl.edu 37 7 44924609 44924609 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 44924609 44924609 G A SNP PURB ENST00000395699 human ensembl 74_37 -1 known silent c.339 p.G113 1.000 pfam_PUR_DNA_RNA-bd pfam_PUR_DNA_RNA-bd,smart_PUR_DNA_RNA-bd - no_errors PURB HGNC ENSG00000146676 15 0 0 17 5 22.7273 TBRG4 0 genome.wustl.edu 37 7 45142092 45142092 + Splice_Site SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 45142092 45142092 T C SNP TBRG4 ENST00000258770 human ensembl 74_37 -1 known splice_site c.1177-2 e6-2 1.000 - - - no_errors TBRG4 HGNC ENSG00000136270 74 0 0 66 38 36.5385 ADCY1 0 genome.wustl.edu 37 7 45614583 45614583 + Silent SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 45614583 45614583 G T SNP ADCY1 ENST00000297323 human ensembl 74_37 +1 known silent c.441 p.R147 0.016 NULL pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY1 HGNC ENSG00000164742 33 0 0 42 10 19.2308 ADCY1 0 genome.wustl.edu 37 7 45753551 45753551 + Missense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 45753551 45753551 C A SNP ADCY1 ENST00000297323 human ensembl 74_37 +1 known missense c.3317 p.P1106Q 0.000 NULL pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY1 HGNC ENSG00000164742 77 0 0 55 28 33.7349 IGFBP1 0 genome.wustl.edu 37 7 45928278 45928278 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 45928278 45928278 C T SNP IGFBP1 ENST00000275525 human ensembl 74_37 +1 known silent c.27 p.V9 0.110 NULL pfam_Thyroglobulin_1,pfam_IGFBP-like,superfamily_Thyroglobulin_1,superfamily_Growth_fac_rcpt_N_dom,smart_IGFBP-like,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1,prints_IGFBP_1-6_chordata,prints_IGFBP1 - no_errors IGFBP1 HGNC ENSG00000146678 24 0 0 33 13 28.2609 TNS3 0 genome.wustl.edu 37 7 47408456 47408456 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 47408456 47408456 A G SNP TNS3 ENST00000311160 human ensembl 74_37 -1 known missense c.1787 p.V596A 1.000 NULL pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_dom,smart_Tyr_Pase_cat,smart_SH2,smart_PTB/PI_dom,pfscan_SH2,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TNS3 HGNC ENSG00000136205 94 0 0 93 32 25.6 TNS3 0 genome.wustl.edu 37 7 47408585 47408585 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 47408585 47408585 C T SNP TNS3 ENST00000311160 human ensembl 74_37 -1 known missense c.1658 p.R553Q 0.064 NULL pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_dom,smart_Tyr_Pase_cat,smart_SH2,smart_PTB/PI_dom,pfscan_SH2,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TNS3 HGNC ENSG00000136205 95 0 0 81 34 29.5652 TNS3 0 genome.wustl.edu 37 7 47409215 47409215 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 47409215 47409215 A G SNP TNS3 ENST00000311160 human ensembl 74_37 -1 known missense c.1028 p.L343P 0.976 NULL pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_dom,smart_Tyr_Pase_cat,smart_SH2,smart_PTB/PI_dom,pfscan_SH2,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TNS3 HGNC ENSG00000136205 37 0 0 50 13 20.6349 TNS3 0 genome.wustl.edu 37 7 47440452 47440452 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 47440452 47440452 C T SNP TNS3 ENST00000311160 human ensembl 74_37 -1 known silent c.783 p.Q261 1.000 pfam_Tensin_phosphatase_C2-dom,superfamily_C2_dom,pfscan_Tensin_phosphatase_C2-dom pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_dom,smart_Tyr_Pase_cat,smart_SH2,smart_PTB/PI_dom,pfscan_SH2,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TNS3 HGNC ENSG00000136205 87 0 0 86 29 25.2174 TNS3 0 genome.wustl.edu 37 7 47467920 47467920 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 47467920 47467920 C T SNP TNS3 ENST00000311160 human ensembl 74_37 -1 known missense c.379 p.V127I 0.984 smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_dom,smart_Tyr_Pase_cat,smart_SH2,smart_PTB/PI_dom,pfscan_SH2,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TNS3 HGNC ENSG00000136205 90 0 0 85 8 8.60215 C7orf65 0 genome.wustl.edu 37 7 47694914 47694914 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 47694914 47694914 G A SNP C7orf65 ENST00000408988 human ensembl 74_37 +1 putative missense c.38 p.R13Q 0.000 NULL NULL - no_errors C7orf65 HGNC ENSG00000221845 42 0 0 59 18 23.3766 PKD1L1 0 genome.wustl.edu 37 7 47840378 47840378 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 47840378 47840378 C T SNP PKD1L1 ENST00000289672 human ensembl 74_37 -1 known missense c.8062 p.G2688R 0.000 NULL pfam_PKD/REJ-like,pfam_PKD1_2_channel,pfam_PKD_dom,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,superfamily_PKD_dom,smart_PKD/Chitinase_dom,smart_PLAT/LH2_dom,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like - no_errors PKD1L1 HGNC ENSG00000158683 129 0 0 98 42 30 PKD1L1 0 genome.wustl.edu 37 7 47944043 47944043 + Silent SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 47944043 47944043 G T SNP PKD1L1 ENST00000289672 human ensembl 74_37 -1 known silent c.1863 p.A621 0.164 pfam_PKD_dom,superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_PKD_dom pfam_PKD/REJ-like,pfam_PKD1_2_channel,pfam_PKD_dom,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,superfamily_PKD_dom,smart_PKD/Chitinase_dom,smart_PLAT/LH2_dom,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like - no_errors PKD1L1 HGNC ENSG00000158683 82 0 0 46 17 26.9841 PKD1L1 0 genome.wustl.edu 37 7 47968882 47968882 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 47968882 47968882 C T SNP PKD1L1 ENST00000289672 human ensembl 74_37 -1 known missense c.979 p.G327R 0.494 NULL pfam_PKD/REJ-like,pfam_PKD1_2_channel,pfam_PKD_dom,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,superfamily_PKD_dom,smart_PKD/Chitinase_dom,smart_PLAT/LH2_dom,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like - no_errors PKD1L1 HGNC ENSG00000158683 215 0 0 186 77 29.2776 AP5Z1 0 genome.wustl.edu 37 7 4823046 4823046 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 4823046 4823046 G A SNP AP5Z1 ENST00000348624 human ensembl 74_37 +1 known missense c.466 p.V156I 0.001 NULL NULL - no_errors AP5Z1 HGNC ENSG00000242802 60 0 0 39 22 36.0656 AP5Z1 0 genome.wustl.edu 37 7 4824582 4824582 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 4824582 4824582 C T SNP AP5Z1 ENST00000348624 human ensembl 74_37 +1 known silent c.834 p.S278 0.011 NULL NULL - no_errors AP5Z1 HGNC ENSG00000242802 33 0 0 25 8 24.2424 AP5Z1 0 genome.wustl.edu 37 7 4830499 4830499 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 4830499 4830499 A G SNP AP5Z1 ENST00000348624 human ensembl 74_37 +1 known missense c.2134 p.S712G 1.000 NULL NULL - no_errors AP5Z1 HGNC ENSG00000242802 15 0 0 17 4 19.0476 ABCA13 0 genome.wustl.edu 37 7 48313562 48313562 + Silent SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 48313562 48313562 T C SNP ABCA13 ENST00000435803 human ensembl 74_37 +1 known silent c.4299 p.S1433 0.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 51 0 0 34 12 26.087 RADIL 0 genome.wustl.edu 37 7 4839270 4839270 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 4839270 4839270 C T SNP RADIL ENST00000399583 human ensembl 74_37 -1 known missense c.3113 p.G1038D 0.998 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_Dil_domain,pfam_Ras-assoc,pfam_PDZ,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc - no_errors RADIL HGNC ENSG00000157927 19 0 0 24 10 29.4118 ABCA13 0 genome.wustl.edu 37 7 48412054 48412054 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 48412054 48412054 T C SNP ABCA13 ENST00000435803 human ensembl 74_37 +1 known missense c.11093 p.V3698A 0.987 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 90 0 0 66 20 23.2558 RADIL 0 genome.wustl.edu 37 7 4841381 4841381 + Silent SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 4841381 4841381 C A SNP RADIL ENST00000399583 human ensembl 74_37 -1 known silent c.2745 p.G915 0.000 NULL pfam_Dil_domain,pfam_Ras-assoc,pfam_PDZ,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc - no_errors RADIL HGNC ENSG00000157927 24 0 0 23 6 20.6897 COBL 0 genome.wustl.edu 37 7 51096986 51096986 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 51096986 51096986 C T SNP COBL ENST00000395542 human ensembl 74_37 -1 known missense c.2053 p.A685T 0.000 NULL pfam_Cordon-bleu_ubiquitin_domain,pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors COBL HGNC ENSG00000106078 84 0 0 81 15 15.625 TNRC18 0 genome.wustl.edu 37 7 5352149 5352149 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 5352149 5352149 G A SNP TNRC18 ENST00000399537 human ensembl 74_37 -1 known silent c.8373 p.F2791 1.000 NULL pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors TNRC18 HGNC ENSG00000182095 52 0 0 58 13 18.3099 TNRC18 0 genome.wustl.edu 37 7 5410796 5410796 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 5410796 5410796 C T SNP TNRC18 ENST00000399537 human ensembl 74_37 -1 known silent c.3429 p.P1143 0.930 NULL pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors TNRC18 HGNC ENSG00000182095 37 0 0 53 12 18.4615 EGFR 0 genome.wustl.edu 37 7 55270249 55270249 + Nonsense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 55270249 55270249 C T SNP EGFR ENST00000275493 human ensembl 74_37 +1 known nonsense c.3202 p.R1068* 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors EGFR HGNC ENSG00000146648 33 0 0 29 10 25.641 SEPT14 0 genome.wustl.edu 37 7 55912280 55912280 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 55912280 55912280 C T SNP SEPT14 ENST00000388975 human ensembl 74_37 -1 known missense c.307 p.V103I 0.998 pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase,pirsf_Septin pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase,pirsf_Septin - no_errors SEPT14 HGNC ENSG00000154997 178 0 0 96 37 27.8195 CCT6A 0 genome.wustl.edu 37 7 56128577 56128577 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 56128577 56128577 G A SNP CCT6A ENST00000275603 human ensembl 74_37 +1 known missense c.1291 p.G431S 1.000 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,tigrfam_Chap_CCT_zeta pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_zeta - no_errors CCT6A HGNC ENSG00000146731 80 0 0 60 21 25.9259 ZNF716 0 genome.wustl.edu 37 7 57522188 57522188 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 57522188 57522188 T C SNP ZNF716 ENST00000420713 human ensembl 74_37 +1 known missense c.62 p.I21T 0.207 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF716 HGNC ENSG00000182111 34 0 0 51 11 17.7419 EIF2AK1 0 genome.wustl.edu 37 7 6066525 6066525 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 6066525 6066525 C T SNP EIF2AK1 ENST00000199389 human ensembl 74_37 -1 known missense c.1598 p.R533Q 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 EIF2AK1 HGNC ENSG00000086232 128 0 0 125 8 6.01504 ZNF107 0 genome.wustl.edu 37 7 64168001 64168001 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 64168001 64168001 A G SNP ZNF107 ENST00000344930 human ensembl 74_37 +1 known missense c.1319 p.Y440C 0.017 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF107 HGNC ENSG00000196247 38 0 0 40 19 32.2034 ZNF138 0 genome.wustl.edu 37 7 64292082 64292082 + Silent SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 64292082 64292082 A G SNP ZNF138 ENST00000359735 human ensembl 74_37 +1 known silent c.291 p.S97 0.012 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF138 HGNC ENSG00000197008 63 0 0 47 18 27.6923 DAGLB 0 genome.wustl.edu 37 7 6449476 6449476 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 6449476 6449476 C T SNP DAGLB ENST00000297056 human ensembl 74_37 -1 known missense c.2011 p.V671M 0.000 NULL pfam_Lipase_3 - no_errors DAGLB HGNC ENSG00000164535 57 0 0 46 22 32.3529 CCT6P1 0 genome.wustl.edu 37 7 65220792 65220792 + RNA SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 65220792 65220792 A G SNP CCT6P1 ENST00000442266 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors CCT6P1 HGNC ENSG00000228409 33 0 0 36 12 25 CCT6P1 0 genome.wustl.edu 37 7 65222986 65222986 + RNA SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 65222986 65222986 G T SNP CCT6P1 ENST00000442266 human ensembl 74_37 +1 known rna NULL NULL 0.996 - - - no_errors CCT6P1 HGNC ENSG00000228409 18 0 0 18 4 18.1818 GUSB 0 genome.wustl.edu 37 7 65441107 65441107 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 65441107 65441107 G A SNP GUSB ENST00000304895 human ensembl 74_37 -1 known silent c.807 p.V269 0.000 pfam_Glyco_hydro_2_Ig-like,superfamily_Glyco_hydro_2_Ig-like pfam_Glyco_hydro_2_TIM,pfam_Glyco_hydro_2_N,pfam_Glyco_hydro_2_Ig-like,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,superfamily_Glyco_hydro_2_Ig-like,prints_Glyco_hydro_2 - no_errors GUSB HGNC ENSG00000169919 69 0 0 77 36 31.8584 ZNF12 0 genome.wustl.edu 37 7 6731628 6731628 + Silent SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 6731628 6731628 A G SNP ZNF12 ENST00000405858 human ensembl 74_37 -1 known silent c.945 p.H315 1.000 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 ZNF12 HGNC ENSG00000164631 92 0 0 89 8 8.24742 PMS2CL 0 genome.wustl.edu 37 7 6791111 6791111 + RNA SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 6791111 6791111 A G SNP PMS2CL ENST00000486256 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors PMS2CL HGNC ENSG00000187953 58 0 0 24 10 29.4118 TYW1B 0 genome.wustl.edu 37 7 72281143 72281143 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 72281143 72281143 A G SNP TYW1B ENST00000438904 human ensembl 74_37 -1 known missense c.346 p.F116L 1.000 pfam_Flavodoxin/NO_synth,pfscan_Flavodoxin/NO_synth pfam_Flavodoxin/NO_synth,pfscan_Flavodoxin/NO_synth,prints_Flavdoxin - no_errors TYW1B HGNC ENSG00000254184 170 0 0 101 47 31.7568 POM121 0 genome.wustl.edu 37 7 72413424 72413424 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 72413424 72413424 G A SNP POM121 ENST00000434423 human ensembl 74_37 +1 known silent c.2892 p.P964 0.116 NULL NULL - no_errors POM121 HGNC ENSG00000196313 91 0 0 108 25 18.797 STAG3L3 0 genome.wustl.edu 37 7 72440408 72440408 + RNA SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 72440408 72440408 G A SNP STAG3L3 ENST00000436857 human ensembl 74_37 -1 known rna NULL NULL 0.006 - - - no_errors STAG3L3 HGNC ENSG00000174353 30 0 0 31 14 31.1111 GTF2IRD2P1 0 genome.wustl.edu 37 7 72657672 72657672 + RNA SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 72657672 72657672 C T SNP GTF2IRD2P1 ENST00000425256 human ensembl 74_37 -1 known rna NULL NULL 0.211 - - - no_errors GTF2IRD2P1 HGNC ENSG00000214544 154 0 0 111 49 30.625 TRIM50 0 genome.wustl.edu 37 7 72738501 72738501 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 72738501 72738501 C T SNP TRIM50 ENST00000333149 human ensembl 74_37 -1 known silent c.285 p.P95 0.948 pfam_Znf_B-box,smart_Znf_B-box,pfscan_Znf_B-box pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM50 HGNC ENSG00000146755 146 0 0 103 54 34.3949 MLXIPL 0 genome.wustl.edu 37 7 73010556 73010556 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 73010556 73010556 C T SNP MLXIPL ENST00000313375 human ensembl 74_37 -1 known missense c.1985 p.R662H 1.000 pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MLXIPL HGNC ENSG00000009950 134 0 0 134 47 25.9669 DNAJC30 0 genome.wustl.edu 37 7 73097222 73097222 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 73097222 73097222 G A SNP DNAJC30 ENST00000395176 human ensembl 74_37 -1 known missense c.532 p.R178W 1.000 NULL pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJC30 HGNC ENSG00000176410 89 0 0 54 38 41.3043 ELN 0 genome.wustl.edu 37 7 73457318 73457318 + Silent SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 73457318 73457318 T C SNP ELN ENST00000358929 human ensembl 74_37 +1 known silent c.330 p.A110 0.998 NULL prints_Tropoelastin - no_errors ELN HGNC ENSG00000049540 82 0 0 95 16 14.4144 CLIP2 0 genome.wustl.edu 37 7 73770846 73770846 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 73770846 73770846 A G SNP CLIP2 ENST00000223398 human ensembl 74_37 +1 known missense c.910 p.M304V 0.985 superfamily_CAP-Gly_domain pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_t-SNARE,pfscan_CAP-Gly_domain - no_errors CLIP2 HGNC ENSG00000106665 90 0 0 79 35 30.7018 GTF2IRD2B 0 genome.wustl.edu 37 7 74564095 74564095 + Silent SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 74564095 74564095 A G SNP GTF2IRD2B ENST00000312575 human ensembl 74_37 +1 known silent c.1842 p.V614 0.530 superfamily_RNaseH-like_dom pfam_GTF2I,superfamily_GTF2I,superfamily_RNaseH-like_dom,pfscan_GTF2I - no_errors GTF2IRD2B HGNC ENSG00000174428 132 0 0 109 36 24.8276 NSUN5P1 0 genome.wustl.edu 37 7 75045612 75045612 + RNA SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 75045612 75045612 G A SNP NSUN5P1 ENST00000393633 human ensembl 74_37 +1 known rna NULL NULL 0.073 - - - no_errors NSUN5P1 HGNC ENSG00000223705 34 0 0 26 14 35 HIP1 0 genome.wustl.edu 37 7 75182750 75182750 + Splice_Site SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 75182750 75182750 A G SNP HIP1 ENST00000336926 human ensembl 74_37 -1 known splice_site c.2295+2 e22+2 0.996 - - - no_errors HIP1 HGNC ENSG00000127946 170 0 0 140 70 33.3333 HIP1 0 genome.wustl.edu 37 7 75203099 75203099 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 75203099 75203099 A G SNP HIP1 ENST00000336926 human ensembl 74_37 -1 known missense c.712 p.Y238H 1.000 pfam_ANTH_dom,superfamily_ARM-type_fold pfam_ANTH_dom,pfam_ILWEQ_dom,pfam_Epsin_dom_N,superfamily_ENTH_VHS,superfamily_ARM-type_fold,superfamily_Prefoldin,smart_Epsin-like_N,smart_ILWEQ_dom,pfscan_Epsin-like_N,pfscan_ILWEQ_dom - no_errors HIP1 HGNC ENSG00000127946 78 0 0 80 39 32.7731 POR 0 genome.wustl.edu 37 7 75608787 75608787 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 75608787 75608787 T C SNP POR ENST00000461988 human ensembl 74_37 +1 known missense c.256 p.F86L 1.000 pfam_Flavodoxin/NO_synth,pfscan_Flavodoxin/NO_synth,prints_Flavdoxin pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_Riboflavin_synthase-like_b-brl,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors POR HGNC ENSG00000127948 39 0 0 36 14 28 DTX2 0 genome.wustl.edu 37 7 76109916 76109916 + Silent SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 76109916 76109916 C A SNP DTX2 ENST00000324432 human ensembl 74_37 +1 known silent c.90 p.T30 0.989 pfam_WWE-dom,smart_WWE-dom_subgr,pfscan_WWE-dom pfam_WWE-dom,smart_WWE-dom_subgr,smart_Znf_RING,pfscan_WWE-dom,pfscan_Znf_RING - no_errors DTX2 HGNC ENSG00000091073 47 0 0 54 12 18.1818 DTX2 0 genome.wustl.edu 37 7 76134880 76134880 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 76134880 76134880 G A SNP DTX2 ENST00000324432 human ensembl 74_37 +1 known missense c.1831 p.A611T 0.956 NULL pfam_WWE-dom,smart_WWE-dom_subgr,smart_Znf_RING,pfscan_WWE-dom,pfscan_Znf_RING - no_errors DTX2 HGNC ENSG00000091073 19 0 0 11 7 38.8889 DTX2P1-UPK3BP1-PMS2P11 0 genome.wustl.edu 37 7 76610442 76610442 + RNA SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 76610442 76610442 C T SNP DTX2P1-UPK3BP1-PMS2P11 ENST00000579700 human ensembl 74_37 +1 known rna NULL NULL 0.998 - - - no_errors DTX2P1-UPK3BP1-PMS2P11 HGNC ENSG00000265479 101 0 0 158 26 14.1304 GSAP 0 genome.wustl.edu 37 7 76942814 76942814 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 76942814 76942814 C T SNP GSAP ENST00000257626 human ensembl 74_37 -1 known silent c.2262 p.R754 0.998 NULL NULL - no_errors GSAP HGNC ENSG00000186088 21 0 0 21 9 30 MAGI2 0 genome.wustl.edu 37 7 77756556 77756556 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 77756556 77756556 G A SNP MAGI2 ENST00000354212 human ensembl 74_37 -1 known silent c.3381 p.P1127 0.000 superfamily_PDZ pfam_PDZ,pfam_WW_dom,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_PDZ,smart_GK/Ca_channel_bsu,smart_WW_dom,pfscan_PDZ,pfscan_WW_dom,pfscan_Guanylate_kin-like - no_errors MAGI2 HGNC ENSG00000187391 180 0 0 156 62 28.4404 MAGI2 0 genome.wustl.edu 37 7 77762325 77762325 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 77762325 77762325 C T SNP MAGI2 ENST00000354212 human ensembl 74_37 -1 known silent c.3084 p.A1028 1.000 NULL pfam_PDZ,pfam_WW_dom,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_PDZ,smart_GK/Ca_channel_bsu,smart_WW_dom,pfscan_PDZ,pfscan_WW_dom,pfscan_Guanylate_kin-like - no_errors MAGI2 HGNC ENSG00000187391 183 0 0 196 70 26.3158 GNAT3 0 genome.wustl.edu 37 7 80091865 80091865 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 80091865 80091865 C T SNP GNAT3 ENST00000398291 human ensembl 74_37 -1 known missense c.673 p.A225T 1.000 pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I - no_errors GNAT3 HGNC ENSG00000214415 84 0 0 76 4 5 CACNA2D1 0 genome.wustl.edu 37 7 81598282 81598282 + Silent SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 81598282 81598282 T C SNP CACNA2D1 ENST00000356253 human ensembl 74_37 -1 known silent c.2352 p.G784 1.000 NULL pfam_VDCC_a2/dsu,pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D1 HGNC ENSG00000153956 114 1 0.869565 72 38 34.5455 PCLO 0 genome.wustl.edu 37 7 82595415 82595415 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 82595415 82595415 T C SNP PCLO ENST00000333891 human ensembl 74_37 -1 known missense c.3689 p.E1230G 0.234 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 217 0 0 177 60 25.3165 PCLO 0 genome.wustl.edu 37 7 82784067 82784067 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 82784067 82784067 C T SNP PCLO ENST00000333891 human ensembl 74_37 -1 known silent c.1890 p.T630 0.001 pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 105 0 0 66 19 22.3529 SEMA3E 0 genome.wustl.edu 37 7 83047757 83047757 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 83047757 83047757 T C SNP SEMA3E ENST00000307792 human ensembl 74_37 -1 known missense c.499 p.R167G 1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA3E HGNC ENSG00000170381 26 0 0 14 9 39.1304 FZD1 0 genome.wustl.edu 37 7 90895652 90895652 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 90895652 90895652 C T SNP FZD1 ENST00000287934 human ensembl 74_37 +1 known missense c.1457 p.A486V 1.000 pfam_Frizzled,pfscan_GPCR_2-like pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD1 HGNC ENSG00000157240 243 0 0 302 91 23.1552 AKAP9 0 genome.wustl.edu 37 7 91729181 91729181 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 91729181 91729181 A G SNP AKAP9 ENST00000359028 human ensembl 74_37 +1 known missense c.10906 p.N3636D 0.230 superfamily_YbaB pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB - no_errors AKAP9 HGNC ENSG00000127914 106 0 0 72 39 35.1351 ANKIB1 0 genome.wustl.edu 37 7 91972386 91972386 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 91972386 91972386 A G SNP ANKIB1 ENST00000265742 human ensembl 74_37 +1 known missense c.836 p.N279S 1.000 NULL pfam_Znf_C6HC,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Znf_RING,smart_Znf_C6HC,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Ubiquitin-int_motif,pfscan_Znf_RING - no_errors ANKIB1 HGNC ENSG00000001629 133 0 0 144 39 21.3115 CCDC132 0 genome.wustl.edu 37 7 92883210 92883210 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 92883210 92883210 C T SNP CCDC132 ENST00000305866 human ensembl 74_37 +1 known missense c.263 p.A88V 1.000 pfam_Vacuolar_sorting-assoc_54 pfam_Vacuolar_sorting-assoc_54,pfam_DUF2451_C - no_errors CCDC132 HGNC ENSG00000004766 41 0 0 21 5 19.2308 TFPI2 0 genome.wustl.edu 37 7 93519623 93519623 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 93519623 93519623 C T SNP TFPI2 ENST00000222543 human ensembl 74_37 -1 known missense c.97 p.A33T 0.000 pirsf_Prot_inhib_I2_TFPI,superfamily_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m pirsf_Prot_inhib_I2_TFPI,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m - no_errors TFPI2 HGNC ENSG00000105825 55 0 0 57 21 26.9231 CASD1 0 genome.wustl.edu 37 7 94184854 94184854 + Silent SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 94184854 94184854 C A SNP CASD1 ENST00000297273 human ensembl 74_37 +1 known silent c.2178 p.I726 0.997 NULL pfam_Cas1_AcylTrans_dom,superfamily_Cyclin-like - no_errors CASD1 HGNC ENSG00000127995 56 0 0 41 22 34.9206 PEG10 0 genome.wustl.edu 37 7 94293284 94293284 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 94293284 94293284 G A SNP PEG10 ENST00000482108 human ensembl 74_37 +1 known missense c.416 p.R139H 0.035 pfam_Retrotrans_gag_dom pfam_Retrotrans_gag_dom,superfamily_Znf_CCHC,pfscan_Znf_CCHC - no_errors PEG10 HGNC ENSG00000242265 156 0 0 190 11 5.47264 SLC25A13 0 genome.wustl.edu 37 7 95751286 95751286 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 95751286 95751286 T C SNP SLC25A13 ENST00000416240 human ensembl 74_37 -1 known missense c.1618 p.T540A 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_EF_hand_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A13 HGNC ENSG00000004864 117 0 0 100 37 27.0073 SLC25A13 0 genome.wustl.edu 37 7 95800793 95800793 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 95800793 95800793 T C SNP SLC25A13 ENST00000416240 human ensembl 74_37 -1 known missense c.1224 p.I408M 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_EF_hand_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A13 HGNC ENSG00000004864 40 0 0 27 9 25 ASNS 0 genome.wustl.edu 37 7 97482432 97482432 + Silent SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 97482432 97482432 A G SNP ASNS ENST00000175506 human ensembl 74_37 -1 known silent c.1416 p.D472 1.000 NULL pfam_Asn_synthase,pfam_GATase_dom,tigrfam_Asn_synth_AEB - no_errors ASNS HGNC ENSG00000070669 58 0 0 36 11 23.4043 BAIAP2L1 0 genome.wustl.edu 37 7 97933665 97933665 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 97933665 97933665 C T SNP BAIAP2L1 ENST00000005260 human ensembl 74_37 -1 known missense c.1265 p.S422N 1.000 NULL pfam_IRSp53/MIM_homology_IMD,pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors BAIAP2L1 HGNC ENSG00000006453 43 0 0 51 15 22.7273 TMEM130 0 genome.wustl.edu 37 7 98460759 98460759 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 98460759 98460759 C T SNP TMEM130 ENST00000416379 human ensembl 74_37 -1 known missense c.350 p.C117Y 1.000 NULL superfamily_PKD_dom,pfscan_PKD_dom - no_errors TMEM130 HGNC ENSG00000166448 112 0 0 119 32 21.1921 TMEM130 0 genome.wustl.edu 37 7 98460916 98460916 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 98460916 98460916 C T SNP TMEM130 ENST00000416379 human ensembl 74_37 -1 known missense c.193 p.A65T 0.001 NULL superfamily_PKD_dom,pfscan_PKD_dom - no_errors TMEM130 HGNC ENSG00000166448 38 0 0 51 13 20.3125 TRRAP 0 genome.wustl.edu 37 7 98495397 98495397 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 98495397 98495397 G A SNP TRRAP ENST00000359863 human ensembl 74_37 +1 known missense c.541 p.E181K 1.000 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors TRRAP HGNC ENSG00000196367 90 0 0 89 27 23.2759 SMURF1 0 genome.wustl.edu 37 7 98658259 98658259 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 98658259 98658259 T C SNP SMURF1 ENST00000361125 human ensembl 74_37 -1 known missense c.166 p.N56D 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_C2_dom,superfamily_WW_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom - no_errors SMURF1 HGNC ENSG00000198742 40 0 0 33 25 43.1034 ATP5J2-PTCD1 0 genome.wustl.edu 37 7 99022489 99022489 + Nonsense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 99022489 99022489 G A SNP ATP5J2-PTCD1 ENST00000413834 human ensembl 74_37 -1 known nonsense c.1813 p.Q605* 1.000 NULL pfam_Pentatricopeptide_repeat,pfam_F1F0-ATPsyn_F_prd,tigrfam_Pentatricopeptide_repeat - no_errors ATP5J2-PTCD1 HGNC ENSG00000248919 68 0 0 50 27 35.0649 ZNF789 0 genome.wustl.edu 37 7 99081725 99081725 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 99081725 99081725 C T SNP ZNF789 ENST00000331410 human ensembl 74_37 +1 known missense c.224 p.P75L 0.066 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 ZNF789 HGNC ENSG00000198556 125 0 0 92 45 32.8467 TRIM4 0 genome.wustl.edu 37 7 99516942 99516942 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 99516942 99516942 C T SNP TRIM4 ENST00000355947 human ensembl 74_37 -1 known missense c.83 p.G28D 1.000 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM4 HGNC ENSG00000146833 8 0 0 12 4 25 ZNF3 0 genome.wustl.edu 37 7 99674943 99674943 + Missense_Mutation SNP T T G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 99674943 99674943 T G SNP ZNF3 ENST00000299667 human ensembl 74_37 -1 known missense c.38 p.Q13P 0.999 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF3 HGNC ENSG00000166526 102 0 0 64 28 30.4348 MCM7 0 genome.wustl.edu 37 7 99696971 99696971 + Missense_Mutation SNP T T A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 99696971 99696971 T A SNP MCM7 ENST00000303887 human ensembl 74_37 -1 known missense c.332 p.Q111L 0.998 superfamily_NA-bd_OB-fold pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_DNA-dep_ATPase,prints_MCM7,prints_MCM_4 - no_errors MCM7 HGNC ENSG00000166508 126 0 0 146 61 29.4686 CNPY4 0 genome.wustl.edu 37 7 99722519 99722519 + RNA SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 99722519 99722519 C A SNP CNPY4 ENST00000480692 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CNPY4 HGNC ENSG00000166997 132 0 0 123 52 29.7143 VPS13B 0 genome.wustl.edu 37 8 100831680 100831680 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 8 100831680 100831680 A G SNP VPS13B ENST00000358544 human ensembl 74_37 +1 known missense c.8737 p.T2913A 1.000 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC ENSG00000132549 99 0 0 40 38 48.7179 FBXO43 0 genome.wustl.edu 37 8 101154026 101154026 + Silent SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 8 101154026 101154026 A G SNP FBXO43 ENST00000428847 human ensembl 74_37 -1 known silent c.456 p.C152 0.000 NULL pfam_Znf_C6HC,superfamily_F-box_dom,smart_Znf_C6HC - no_errors FBXO43 HGNC ENSG00000156509 113 0 0 48 28 36.8421 SPAG1 0 genome.wustl.edu 37 8 101271490 101271490 + RNA SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 8 101271490 101271490 A G SNP SPAG1 ENST00000519409 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors SPAG1 HGNC ENSG00000104450 76 0 0 34 24 41.3793 RNF19A 0 genome.wustl.edu 37 8 101300184 101300184 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 8 101300184 101300184 C T SNP RNF19A ENST00000341084 human ensembl 74_37 -1 known silent c.219 p.R73 0.998 NULL pfam_Znf_C6HC,smart_Znf_RING,smart_Znf_C6HC,pfscan_Znf_RING - no_errors RNF19A HGNC ENSG00000034677 146 0 0 41 35 46.0526 KLF10 0 genome.wustl.edu 37 8 103663818 103663818 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 8 103663818 103663818 C T SNP KLF10 ENST00000285407 human ensembl 74_37 -1 known missense c.742 p.V248M 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF10 HGNC ENSG00000155090 90 0 0 44 18 29.0323 PRSS55 0 genome.wustl.edu 37 8 10383157 10383157 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 8 10383157 10383157 G A SNP PRSS55 ENST00000328655 human ensembl 74_37 +1 known missense c.62 p.R21Q 0.036 NULL pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors PRSS55 HGNC ENSG00000184647 66 0 0 31 15 32.6087 LRP12 0 genome.wustl.edu 37 8 105601078 105601078 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 8 105601078 105601078 C T SNP LRP12 ENST00000424843 human ensembl 74_37 -1 known silent c.48 p.A16 0.425 NULL pfam_CUB_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP12 HGNC ENSG00000147650 17 0 0 25 21 45.6522 ZFPM2 0 genome.wustl.edu 37 8 106813943 106813943 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 8 106813943 106813943 C T SNP ZFPM2 ENST00000407775 human ensembl 74_37 +1 known missense c.1633 p.P545S 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFPM2 HGNC ENSG00000169946 159 0 0 67 32 32.3232 SLC35G5 0 genome.wustl.edu 37 8 11189439 11189439 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 8 11189439 11189439 C T SNP SLC35G5 ENST00000382435 human ensembl 74_37 +1 known missense c.824 p.T275I 0.965 pfam_DMT pfam_DMT - no_errors SLC35G5 HGNC ENSG00000177710 147 0 0 82 54 39.7059 DSCC1 0 genome.wustl.edu 37 8 120865336 120865336 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 8 120865336 120865336 G A SNP DSCC1 ENST00000313655 human ensembl 74_37 -1 known missense c.302 p.P101L 1.000 pfam_Sister_chromatid_cohesion_Dcc1 pfam_Sister_chromatid_cohesion_Dcc1 - no_errors DSCC1 HGNC ENSG00000136982 76 0 0 16 19 54.2857 DEPTOR 0 genome.wustl.edu 37 8 121021305 121021305 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 8 121021305 121021305 G A SNP DEPTOR ENST00000286234 human ensembl 74_37 +1 known missense c.1034 p.R345Q 1.000 superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_DEP_dom,superfamily_PDZ,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ - no_errors DEPTOR HGNC ENSG00000155792 34 0 0 30 18 37.5 SNTB1 0 genome.wustl.edu 37 8 121644750 121644750 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 8 121644750 121644750 C T SNP SNTB1 ENST00000395601 human ensembl 74_37 -1 known silent c.930 p.E310 1.000 NULL pfam_PDZ,pfam_Pleckstrin_homology,superfamily_PDZ,smart_Pleckstrin_homology,smart_PDZ,pfscan_PDZ,pfscan_Pleckstrin_homology - no_errors SNTB1 HGNC ENSG00000172164 67 0 0 37 19 33.9286 FAM86B2 0 genome.wustl.edu 37 8 12287944 12287944 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 8 12287944 12287944 G A SNP FAM86B2 ENST00000262365 human ensembl 74_37 -1 known missense c.257 p.T86M 0.989 NULL pfam_Nicotinamide_N-MeTfrase-like - no_errors FAM86B2 HGNC ENSG00000145002 41 0 0 37 11 22.9167 ZHX2 0 genome.wustl.edu 37 8 123965085 123965085 + Missense_Mutation SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 8 123965085 123965085 G T SNP ZHX2 ENST00000314393 human ensembl 74_37 +1 known missense c.1335 p.K445N 0.996 superfamily_Homeodomain-like,smart_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZHX2 HGNC ENSG00000178764 55 0 0 48 20 29.4118 FBXO32 0 genome.wustl.edu 37 8 124515635 124515635 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 8 124515635 124515635 A G SNP FBXO32 ENST00000517956 human ensembl 74_37 -1 known missense c.1046 p.F349S 1.000 NULL superfamily_F-box_dom - no_errors FBXO32 HGNC ENSG00000156804 55 0 0 25 12 32.4324 ANXA13 0 genome.wustl.edu 37 8 124714888 124714888 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 8 124714888 124714888 G A SNP ANXA13 ENST00000262219 human ensembl 74_37 -1 known silent c.303 p.Y101 0.998 pfam_Annexin_repeat,smart_Annexin_repeat pfam_Annexin_repeat,smart_Annexin_repeat,prints_Annexin,prints_AnnexinXIII - no_errors ANXA13 HGNC ENSG00000104537 99 0 0 88 6 6.38298 FER1L6 0 genome.wustl.edu 37 8 124992883 124992883 + Missense_Mutation SNP A A T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 8 124992883 124992883 A T SNP FER1L6 ENST00000399018 human ensembl 74_37 +1 known missense c.1242 p.K414N 0.625 NULL pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,superfamily_ABC1_TM_dom,smart_C2_dom,pfscan_C2_dom - no_errors FER1L6 HGNC ENSG00000214814 124 0 0 76 49 39.2 FER1L6 0 genome.wustl.edu 37 8 125113580 125113580 + Splice_Site SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 8 125113580 125113580 G A SNP FER1L6 ENST00000399018 human ensembl 74_37 +1 known splice_site c.5125+1 e37+1 1.000 - - - no_errors FER1L6 HGNC ENSG00000214814 54 0 0 19 16 45.7143 NDUFB9 0 genome.wustl.edu 37 8 125562077 125562077 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 8 125562077 125562077 G A SNP NDUFB9 ENST00000276689 human ensembl 74_37 +1 known missense c.484 p.D162N 0.729 NULL pfam_Complex1_LYR - no_errors NDUFB9 HGNC ENSG00000147684 59 0 0 38 17 30.9091 KIAA0196 0 genome.wustl.edu 37 8 126049532 126049532 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 8 126049532 126049532 T C SNP KIAA0196 ENST00000318410 human ensembl 74_37 -1 known missense c.3128 p.N1043S 1.000 pfam_WASH_strumpellin pfam_WASH_strumpellin,superfamily_Ig_E-set - no_errors KIAA0196 HGNC ENSG00000164961 102 0 0 33 16 32.6531 ADCY8 0 genome.wustl.edu 37 8 131964196 131964196 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 8 131964196 131964196 T C SNP ADCY8 ENST00000286355 human ensembl 74_37 -1 known missense c.1159 p.I387V 1.000 smart_A/G_cyclase pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY8 HGNC ENSG00000155897 83 0 0 27 18 40 ADCY8 0 genome.wustl.edu 37 8 132052023 132052023 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 8 132052023 132052023 T C SNP ADCY8 ENST00000286355 human ensembl 74_37 -1 known missense c.557 p.N186S 1.000 NULL pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY8 HGNC ENSG00000155897 73 0 0 41 26 38.806 PHF20L1 0 genome.wustl.edu 37 8 133854953 133854953 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 8 133854953 133854953 C T SNP PHF20L1 ENST00000220847 human ensembl 74_37 +1 known missense c.742 p.H248Y 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD - no_errors PHF20L1 HGNC ENSG00000129292 83 0 0 32 18 36 TG 0 genome.wustl.edu 37 8 133883650 133883650 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 8 133883650 133883650 G A SNP TG ENST00000220616 human ensembl 74_37 +1 known missense c.332 p.S111N 1.000 pfam_Thyroglobulin_1,superfamily_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1 pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1 - no_errors TG HGNC ENSG00000042832 117 0 0 42 34 44.7368 ZFAT 0 genome.wustl.edu 37 8 135613725 135613725 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 8 135613725 135613725 T C SNP ZFAT ENST00000377838 human ensembl 74_37 -1 known missense c.2237 p.Y746C 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFAT HGNC ENSG00000066827 101 0 0 48 35 42.1687 KCNK9 0 genome.wustl.edu 37 8 140631269 140631269 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 8 140631269 140631269 C T SNP KCNK9 ENST00000303015 human ensembl 74_37 -1 known silent c.357 p.P119 0.027 pfam_2pore_dom_K_chnl_dom,pirsf_2pore_dom_K_chnl_TASK pfam_2pore_dom_K_chnl_dom,pirsf_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl_TASK,prints_KCNK9,prints_2pore_dom_K_chnl - no_errors KCNK9 HGNC ENSG00000169427 36 0 0 39 19 32.7586 AGO2 0 genome.wustl.edu 37 8 141549445 141549445 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 8 141549445 141549445 G A SNP AGO2 ENST00000220592 human ensembl 74_37 -1 known missense c.2143 p.L715F 1.000 pfam_Piwi,superfamily_RNaseH-like_dom,smart_Piwi,pfscan_Piwi pfam_Piwi,pfam_PAZ_dom,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi - no_errors AGO2 HGNC ENSG00000123908 86 0 0 58 30 34.0909 DENND3 0 genome.wustl.edu 37 8 142151330 142151330 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 8 142151330 142151330 C T SNP DENND3 ENST00000262585 human ensembl 74_37 +1 known missense c.290 p.T97M 0.000 NULL pfam_DENN_dom,pfam_dDENN_dom,pfam_WD40_repeat,pfam_uDENN_dom,superfamily_WD40_repeat_dom,smart_DENN_dom,smart_dDENN_dom,smart_WD40_repeat,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_WD40_repeat_dom - no_errors DENND3 HGNC ENSG00000105339 120 0 0 92 20 17.8571 ZNF696 0 genome.wustl.edu 37 8 144378556 144378556 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 8 144378556 144378556 C T SNP ZNF696 ENST00000330143 human ensembl 74_37 +1 known silent c.711 p.Y237 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF696 HGNC ENSG00000185730 29 0 0 30 17 36.1702 NAPRT1 0 genome.wustl.edu 37 8 144657425 144657425 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 8 144657425 144657425 T C SNP NAPRT1 ENST00000276844 human ensembl 74_37 -1 known missense c.1382 p.E461G 0.052 superfamily_Quinolinate_PRibosylTrfase_C,pirsf_Nic_PRibTrfase-Fam,tigrfam_Nic_PRibTrfase_pncB pfam_Nic_PRibTrfase-Fam,superfamily_Quinolinate_PRibosylTrfase_C,pirsf_Nic_PRibTrfase-Fam,tigrfam_Nic_PRibTrfase_pncB - no_errors NAPRT1 HGNC ENSG00000147813 53 0 0 32 26 44.8276 EPPK1 0 genome.wustl.edu 37 8 144940342 144940342 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 8 144940342 144940342 G A SNP EPPK1 ENST00000525985 human ensembl 74_37 -1 known silent c.7080 p.D2360 0.843 pfam_Plectin_repeat,smart_Plectin_repeat pfam_Plectin_repeat,smart_Plectin_repeat - no_errors EPPK1 HGNC ENSG00000227184 463 0 0 536 35 6.1296 EPPK1 0 genome.wustl.edu 37 8 144941902 144941902 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 8 144941902 144941902 C T SNP EPPK1 ENST00000525985 human ensembl 74_37 -1 known silent c.5520 p.T1840 0.000 NULL pfam_Plectin_repeat,smart_Plectin_repeat - no_errors EPPK1 HGNC ENSG00000227184 192 1 0.518135 118 61 34.0782 PLEC 0 genome.wustl.edu 37 8 144990789 144990789 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 8 144990789 144990789 G A SNP PLEC ENST00000322810 human ensembl 74_37 -1 known silent c.13611 p.P4537 0.184 pfam_Plectin_repeat,smart_Plectin_repeat pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 78 0 0 46 27 36.9863 PLEC 0 genome.wustl.edu 37 8 144990949 144990949 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 8 144990949 144990949 T C SNP PLEC ENST00000322810 human ensembl 74_37 -1 known missense c.13451 p.D4484G 1.000 pfam_Plectin_repeat,smart_Plectin_repeat pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 80 0 0 49 37 43.0233 PLEC 0 genome.wustl.edu 37 8 144999695 144999695 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 8 144999695 144999695 G A SNP PLEC ENST00000322810 human ensembl 74_37 -1 known missense c.4813 p.R1605C 0.969 NULL pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 40 0 0 25 12 32.4324 PARP10 0 genome.wustl.edu 37 8 145057704 145057704 + Missense_Mutation SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 8 145057704 145057704 G T SNP PARP10 ENST00000313028 human ensembl 74_37 -1 known missense c.2053 p.L685I 0.561 NULL pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP10 HGNC ENSG00000178685 26 0 0 9 3 25 CYC1 0 genome.wustl.edu 37 8 145150773 145150773 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 8 145150773 145150773 G A SNP CYC1 ENST00000318911 human ensembl 74_37 +1 known missense c.167 p.G56D 1.000 NULL pfam_Cyt_c1,superfamily_Cyt_c-like_dom,superfamily_Cyt_c1_TM_anchor_C,prints_Cyt_c1 - no_errors CYC1 HGNC ENSG00000179091 74 0 0 58 37 38.9474 HSF1 0 genome.wustl.edu 37 8 145537600 145537600 + RNA SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 8 145537600 145537600 G A SNP HSF1 ENST00000528842 human ensembl 74_37 +1 putative rna NULL NULL 0.010 - - - no_errors HSF1 HGNC ENSG00000185122 58 0 0 37 25 40.3226 KIFC2 0 genome.wustl.edu 37 8 145692389 145692389 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 8 145692389 145692389 G A SNP KIFC2 ENST00000301332 human ensembl 74_37 +1 known missense c.226 p.A76T 0.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIFC2 HGNC ENSG00000167702 20 0 0 12 4 25 ZNF16 0 genome.wustl.edu 37 8 146156380 146156380 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 8 146156380 146156380 T C SNP ZNF16 ENST00000276816 human ensembl 74_37 -1 known missense c.1793 p.E598G 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF16 HGNC ENSG00000170631 79 0 0 52 7 11.8644 ZNF16 0 genome.wustl.edu 37 8 146156435 146156435 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 8 146156435 146156435 T C SNP ZNF16 ENST00000276816 human ensembl 74_37 -1 known missense c.1738 p.K580E 0.972 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF16 HGNC ENSG00000170631 74 0 0 31 23 42.5926 MSR1 0 genome.wustl.edu 37 8 15978090 15978090 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 8 15978090 15978090 G A SNP MSR1 ENST00000262101 human ensembl 74_37 -1 known silent c.1059 p.V353 0.262 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_SRCR,pfscan_SRCR pfam_SRCR,pfam_Macro_scav_rcpt,pfam_Collagen,superfamily_Srcr_rcpt-rel,superfamily_STAT_TF_coiled-coil,smart_Srcr_rcpt-rel,prints_Macro_scav_rcpt,prints_SRCR,pfscan_SRCR - no_errors MSR1 HGNC ENSG00000038945 104 0 0 61 44 41.9048 SLC7A2 0 genome.wustl.edu 37 8 17400836 17400836 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 8 17400836 17400836 G A SNP SLC7A2 ENST00000004531 human ensembl 74_37 +1 known silent c.108 p.S36 0.000 NULL pfam_AA-permease/SLC12A_dom,tigrfam_Cat_AA_permease - no_errors SLC7A2 HGNC ENSG00000003989 64 0 0 28 22 44 ARHGEF10 0 genome.wustl.edu 37 8 1842674 1842674 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 8 1842674 1842674 C T SNP ARHGEF10 ENST00000398564 human ensembl 74_37 +1 known missense c.1451 p.A484V 0.999 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF10 HGNC ENSG00000104728 69 0 0 48 10 17.2414 PSD3 0 genome.wustl.edu 37 8 18666263 18666263 + Splice_Site SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 8 18666263 18666263 A G SNP PSD3 ENST00000286485 human ensembl 74_37 -1 known splice_site c.32+2 e1+2 1.000 - - - no_errors PSD3 HGNC ENSG00000156011 52 0 0 27 18 40 MYOM2 0 genome.wustl.edu 37 8 2026951 2026951 + Nonsense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 8 2026951 2026951 C T SNP MYOM2 ENST00000262113 human ensembl 74_37 +1 known nonsense c.1399 p.R467* 0.982 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYOM2 HGNC ENSG00000036448 298 0 0 124 85 40.6699 NUDT18 0 genome.wustl.edu 37 8 21965652 21965652 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 8 21965652 21965652 C T SNP NUDT18 ENST00000309188 human ensembl 74_37 -1 known missense c.368 p.R123H 0.129 pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,prints_Nudix_hydrolase - no_errors NUDT18 HGNC ENSG00000173566 11 0 0 6 6 50 POLR3D 0 genome.wustl.edu 37 8 22105771 22105771 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 8 22105771 22105771 C T SNP POLR3D ENST00000397802 human ensembl 74_37 +1 known missense c.466 p.R156C 1.000 NULL pfam_RPC4 - no_errors POLR3D HGNC ENSG00000168495 149 0 0 120 11 8.39695 SLC39A14 0 genome.wustl.edu 37 8 22262311 22262311 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 8 22262311 22262311 G A SNP SLC39A14 ENST00000359741 human ensembl 74_37 +1 known missense c.88 p.A30T 0.419 NULL pfam_ZIP - no_errors SLC39A14 HGNC ENSG00000104635 154 0 0 138 9 6.12245 PDLIM2 0 genome.wustl.edu 37 8 22442669 22442669 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 8 22442669 22442669 G A SNP PDLIM2 ENST00000308354 human ensembl 74_37 +1 known missense c.1205 p.S402N 0.358 NULL pfam_PDZ,pfam_Znf_LIM,superfamily_PDZ,smart_PDZ,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ - no_errors PDLIM2 HGNC ENSG00000120913 117 0 0 48 36 42.8571 LOXL2 0 genome.wustl.edu 37 8 23167365 23167365 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 8 23167365 23167365 G A SNP LOXL2 ENST00000389131 human ensembl 74_37 -1 known missense c.1696 p.R566W 1.000 pfam_Lysyl_oxidase,prints_Lysyl_oxidase 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 67 0 0 25 17 40.4762 ADAMDEC1 0 genome.wustl.edu 37 8 24262849 24262849 + RNA SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 8 24262849 24262849 G T SNP ADAMDEC1 ENST00000519953 human ensembl 74_37 +1 putative rna NULL NULL 0.029 - - - no_errors ADAMDEC1 HGNC ENSG00000134028 38 0 0 18 13 41.9355 NEFM 0 genome.wustl.edu 37 8 24771467 24771467 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 8 24771467 24771467 G A SNP NEFM ENST00000221166 human ensembl 74_37 +1 known missense c.161 p.R54H 1.000 pfam_Intermed_filament_DNA-bd pfam_IF,pfam_Intermed_filament_DNA-bd,superfamily_Prefoldin,prints_Keratin_I - no_errors NEFM HGNC ENSG00000104722 86 0 0 57 14 19.7183 NEFM 0 genome.wustl.edu 37 8 24771944 24771944 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 8 24771944 24771944 C T SNP NEFM ENST00000221166 human ensembl 74_37 +1 known missense c.638 p.A213V 0.998 pfam_IF,prints_Keratin_I pfam_IF,pfam_Intermed_filament_DNA-bd,superfamily_Prefoldin,prints_Keratin_I - no_errors NEFM HGNC ENSG00000104722 47 0 0 24 23 48.9362 DOCK5 0 genome.wustl.edu 37 8 25174531 25174531 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 8 25174531 25174531 C T SNP DOCK5 ENST00000276440 human ensembl 74_37 +1 known missense c.1327 p.R443W 1.000 NULL pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK5 HGNC ENSG00000147459 85 0 0 36 29 44.6154 PTK2B 0 genome.wustl.edu 37 8 27308338 27308338 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 8 27308338 27308338 C T SNP PTK2B ENST00000346049 human ensembl 74_37 +1 known missense c.2413 p.R805W 0.997 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Focal_adhesion_kin_target_dom,pfam_Prot_kinase_dom,pfam_FERM_central,superfamily_Kinase-like_dom,superfamily_Focal_adhesion_kin_target_dom,superfamily_FERM_central,smart_Band_41_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PTK2B HGNC ENSG00000120899 49 0 0 52 6 10.3448 CHRNA2 0 genome.wustl.edu 37 8 27320602 27320602 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 8 27320602 27320602 G A SNP CHRNA2 ENST00000407991 human ensembl 74_37 -1 known missense c.1358 p.A453V 0.001 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 CHRNA2 HGNC ENSG00000120903 119 0 0 57 27 32.1429 SCARA5 0 genome.wustl.edu 37 8 27779530 27779530 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 8 27779530 27779530 C T SNP SCARA5 ENST00000354914 human ensembl 74_37 -1 known silent c.474 p.A158 0.137 NULL pfam_SRCR,pfam_Collagen,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_SRCR,pfscan_SRCR - no_errors SCARA5 HGNC ENSG00000168079 23 0 0 8 14 63.6364 NUGGC 0 genome.wustl.edu 37 8 27922170 27922170 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 8 27922170 27922170 G A SNP NUGGC ENST00000341513 human ensembl 74_37 -1 known missense c.790 p.R264C 0.116 pfam_Dynamin_GTPase,superfamily_P-loop_NTPase pfam_Dynamin_GTPase,superfamily_P-loop_NTPase - no_errors NUGGC HGNC ENSG00000189233 60 0 0 52 5 8.77193 UBXN8 0 genome.wustl.edu 37 8 30601697 30601697 + RNA SNP T T A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 8 30601697 30601697 T A SNP UBXN8 ENST00000265616 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors UBXN8 HGNC ENSG00000104691 23 0 0 10 8 44.4444 DUSP26 0 genome.wustl.edu 37 8 33451249 33451249 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 8 33451249 33451249 G A SNP DUSP26 ENST00000256261 human ensembl 74_37 -1 known missense c.238 p.R80C 1.000 pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Dual-sp_phosphatase_subgr_cat pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP_famA,prints_Atypical_DUSP - no_errors DUSP26 HGNC ENSG00000133878 48 0 0 32 15 31.9149 HTRA4 0 genome.wustl.edu 37 8 38834212 38834212 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 8 38834212 38834212 A G SNP HTRA4 ENST00000302495 human ensembl 74_37 +1 known missense c.725 p.D242G 1.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,prints_Peptidase_S1C pfam_Peptidase_S1,pfam_PDZ,pfam_Kazal_dom,superfamily_Trypsin-like_Pept_dom,superfamily_PDZ,smart_Kazal_dom,smart_PDZ,pfscan_PDZ,prints_Peptidase_S1C - no_errors HTRA4 HGNC ENSG00000169495 52 0 0 23 15 39.4737 ANK1 0 genome.wustl.edu 37 8 41529903 41529903 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 8 41529903 41529903 C T SNP ANK1 ENST00000396942 human ensembl 74_37 -1 known missense c.5065 p.V1689M 0.941 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK1 HGNC ENSG00000029534 132 0 0 73 5 6.41026 KAT6A 0 genome.wustl.edu 37 8 41790996 41790996 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 8 41790996 41790996 C T SNP KAT6A ENST00000265713 human ensembl 74_37 -1 known missense c.4742 p.S1581N 0.992 NULL pfam_MOZ_SAS,pfam_Znf_PHD-finger,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5_H15,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors KAT6A HGNC ENSG00000083168 66 0 0 48 29 37.6623 PLAT 0 genome.wustl.edu 37 8 42037527 42037527 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 8 42037527 42037527 C T SNP PLAT ENST00000220809 human ensembl 74_37 -1 known missense c.1280 p.R427H 0.482 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_Kringle,pfam_Fibronectin_type1,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Fibronectin_type1,smart_Kringle,smart_Peptidase_S1,pfscan_EG-like_dom,pfscan_Fibronectin_type1,pfscan_Kringle,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors PLAT HGNC ENSG00000104368 28 0 0 19 8 29.6296 DKK4 0 genome.wustl.edu 37 8 42232287 42232287 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 8 42232287 42232287 C T SNP DKK4 ENST00000220812 human ensembl 74_37 -1 known missense c.407 p.G136D 0.073 NULL pfam_Dickkopf_N,pfam_Prokineticin_domain - no_errors DKK4 HGNC ENSG00000104371 222 0 0 124 45 26.6272 CHRNB3 0 genome.wustl.edu 37 8 42586906 42586906 + Silent SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 8 42586906 42586906 C A SNP CHRNB3 ENST00000289957 human ensembl 74_37 +1 known silent c.456 p.S152 0.142 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNB3 HGNC ENSG00000147432 78 0 0 36 5 12.1951 PRKDC 0 genome.wustl.edu 37 8 48749922 48749922 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 8 48749922 48749922 G A SNP PRKDC ENST00000314191 human ensembl 74_37 -1 known missense c.7609 p.R2537W 1.000 NULL pfam_NUC194,pfam_PIK-rel_kinase_FAT,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 PRKDC HGNC ENSG00000253729 38 0 0 13 10 43.4783 PRKDC 0 genome.wustl.edu 37 8 48852211 48852211 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 8 48852211 48852211 A G SNP PRKDC ENST00000314191 human ensembl 74_37 -1 known missense c.1013 p.L338P 1.000 superfamily_ARM-type_fold pfam_NUC194,pfam_PIK-rel_kinase_FAT,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 PRKDC HGNC ENSG00000253729 58 0 0 38 15 28.3019 PXDNL 0 genome.wustl.edu 37 8 52321984 52321984 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 8 52321984 52321984 A G SNP PXDNL ENST00000356297 human ensembl 74_37 -1 known missense c.2200 p.C734R 0.992 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom - no_errors PXDNL HGNC ENSG00000147485 32 0 0 25 6 19.3548 PXDNL 0 genome.wustl.edu 37 8 52366263 52366263 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 8 52366263 52366263 G A SNP PXDNL ENST00000356297 human ensembl 74_37 -1 known silent c.1065 p.G355 0.997 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom - no_errors PXDNL HGNC ENSG00000147485 69 0 0 40 20 33.3333 NPBWR1 0 genome.wustl.edu 37 8 53852828 53852828 + Missense_Mutation SNP T T A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 8 53852828 53852828 T A SNP NPBWR1 ENST00000331251 human ensembl 74_37 +1 known missense c.361 p.F121I 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Opioid_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Neuropept_B/W_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_Opioid_rcpt - no_errors NPBWR1 HGNC ENSG00000183729 42 0 0 49 4 7.54717 PLAG1 0 genome.wustl.edu 37 8 57079998 57079998 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 8 57079998 57079998 G A SNP PLAG1 ENST00000316981 human ensembl 74_37 -1 known missense c.307 p.R103W 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors PLAG1 HGNC ENSG00000181690 24 0 0 13 4 23.5294 SDR16C5 0 genome.wustl.edu 37 8 57228768 57228768 + Missense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 8 57228768 57228768 C A SNP SDR16C5 ENST00000303749 human ensembl 74_37 -1 known missense c.139 p.G47C 1.000 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors SDR16C5 HGNC ENSG00000170786 103 0 0 51 32 38.5542 CLVS1 0 genome.wustl.edu 37 8 62371019 62371019 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 8 62371019 62371019 A G SNP CLVS1 ENST00000325897 human ensembl 74_37 +1 known missense c.895 p.T299A 1.000 superfamily_CRAL-TRIO_dom pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran - no_errors CLVS1 HGNC ENSG00000177182 88 0 0 34 23 40.3509 ASPH 0 genome.wustl.edu 37 8 62430155 62430155 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 8 62430155 62430155 C T SNP ASPH ENST00000379454 human ensembl 74_37 -1 known silent c.2058 p.R686 1.000 pfam_Asp_Arg_b-Hydrxlase pfam_Asp-B-hydro/Triadin_dom,pfam_Asp_Arg_b-Hydrxlase,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors ASPH HGNC ENSG00000198363 97 0 0 47 22 31.8841 ANGPT2 0 genome.wustl.edu 37 8 6372234 6372234 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 8 6372234 6372234 G A SNP ANGPT2 ENST00000325203 human ensembl 74_37 -1 known silent c.996 p.S332 0.110 pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors ANGPT2 HGNC ENSG00000091879 223 0 0 158 15 8.67052 ANGPT2 0 genome.wustl.edu 37 8 6378851 6378851 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 8 6378851 6378851 A G SNP ANGPT2 ENST00000325203 human ensembl 74_37 -1 known missense c.647 p.L216P 0.996 NULL pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors ANGPT2 HGNC ENSG00000091879 67 0 0 26 11 29.7297 VCPIP1 0 genome.wustl.edu 37 8 67563711 67563711 + Missense_Mutation SNP T T A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 8 67563711 67563711 T A SNP VCPIP1 ENST00000310421 human ensembl 74_37 -1 known missense c.2779 p.I927F 1.000 NULL pfam_OTU,pfscan_OTU - no_errors VCPIP1 HGNC ENSG00000175073 92 0 0 29 21 42 ARFGEF1 0 genome.wustl.edu 37 8 68150672 68150672 + Silent SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 8 68150672 68150672 T C SNP ARFGEF1 ENST00000262215 human ensembl 74_37 -1 known silent c.3195 p.K1065 0.998 superfamily_ARM-type_fold pfam_Sec7_dom,pfam_DUF1981_Sec7_assoc,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom - no_errors ARFGEF1 HGNC ENSG00000066777 67 0 0 22 9 29.0323 SULF1 0 genome.wustl.edu 37 8 70515459 70515459 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 8 70515459 70515459 C T SNP SULF1 ENST00000260128 human ensembl 74_37 +1 known missense c.1094 p.A365V 1.000 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase pfam_Sulfatase,pfam_Extracellular_sulfatase_C,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase - no_errors SULF1 HGNC ENSG00000137573 219 0 0 135 53 28.1915 LY96 0 genome.wustl.edu 37 8 74903730 74903730 + Missense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 8 74903730 74903730 C A SNP LY96 ENST00000284818 human ensembl 74_37 +1 known missense c.53 p.A18D 0.841 NULL pfam_ML_dom,superfamily_Ig_E-set,smart_ML_dom - no_errors LY96 HGNC ENSG00000154589 128 0 0 68 16 19.0476 JPH1 0 genome.wustl.edu 37 8 75227797 75227797 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 8 75227797 75227797 G A SNP JPH1 ENST00000519947 human ensembl 74_37 -1 known missense c.73 p.R25C 1.000 NULL NULL - no_errors JPH1 HGNC ENSG00000104369 36 0 0 45 14 23.7288 ZFHX4 0 genome.wustl.edu 37 8 77766906 77766906 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 8 77766906 77766906 C T SNP ZFHX4 ENST00000521891 human ensembl 74_37 +1 known silent c.7749 p.D2583 0.984 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 60 0 0 35 13 27.0833 ZFHX4 0 genome.wustl.edu 37 8 77768043 77768043 + Silent SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 8 77768043 77768043 A G SNP ZFHX4 ENST00000521891 human ensembl 74_37 +1 known silent c.8886 p.L2962 0.968 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 42 0 0 21 15 41.6667 ZFHX4 0 genome.wustl.edu 37 8 77768387 77768387 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 8 77768387 77768387 C T SNP ZFHX4 ENST00000521891 human ensembl 74_37 +1 known missense c.9230 p.T3077M 0.671 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 159 0 0 100 62 38.2716 CA13 0 genome.wustl.edu 37 8 86171741 86171741 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 8 86171741 86171741 A G SNP CA13 ENST00000321764 human ensembl 74_37 +1 known missense c.327 p.I109M 0.231 pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a - no_errors CA13 HGNC ENSG00000185015 115 0 0 54 32 37.2093 CPNE3 0 genome.wustl.edu 37 8 87568519 87568519 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 8 87568519 87568519 G A SNP CPNE3 ENST00000198765 human ensembl 74_37 +1 known missense c.1444 p.A482T 1.000 smart_VWF_A pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom - no_errors CPNE3 HGNC ENSG00000085719 80 0 0 42 11 20.7547 RUNX1T1 0 genome.wustl.edu 37 8 92998411 92998411 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 8 92998411 92998411 C T SNP RUNX1T1 ENST00000436581 human ensembl 74_37 -1 known missense c.1253 p.G418D 1.000 NULL pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTG8 - no_errors RUNX1T1 HGNC ENSG00000079102 151 0 0 75 63 45.6522 RUNX1T1 0 genome.wustl.edu 37 8 92999191 92999191 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 8 92999191 92999191 C T SNP RUNX1T1 ENST00000436581 human ensembl 74_37 -1 known missense c.1034 p.G345D 1.000 NULL pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTG8 - no_errors RUNX1T1 HGNC ENSG00000079102 89 0 0 37 35 48.6111 RBM12B 0 genome.wustl.edu 37 8 94745716 94745716 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 8 94745716 94745716 T C SNP RBM12B ENST00000399300 human ensembl 74_37 -1 known missense c.2923 p.N975D 1.000 smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM12B HGNC ENSG00000183808 44 0 0 20 9 31.0345 TMEM67 0 genome.wustl.edu 37 8 94767147 94767147 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 8 94767147 94767147 C T SNP TMEM67 ENST00000453321 human ensembl 74_37 +1 known missense c.5 p.A2V 0.636 NULL pfam_Meckelin,superfamily_Growth_fac_rcpt_N_dom - no_errors TMEM67 HGNC ENSG00000164953 140 0 0 83 46 35.6589 POP1 0 genome.wustl.edu 37 8 99149119 99149119 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 8 99149119 99149119 G A SNP POP1 ENST00000349693 human ensembl 74_37 +1 known silent c.1299 p.R433 0.978 NULL pfam_RNase_P/MRP_POP1,pfam_POPLD - no_errors POP1 HGNC ENSG00000104356 159 0 0 70 55 44 NIPAL2 0 genome.wustl.edu 37 8 99264772 99264772 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 8 99264772 99264772 C T SNP NIPAL2 ENST00000341166 human ensembl 74_37 -1 known missense c.295 p.V99M 0.000 pfam_Mg_trans_NIPA pfam_Mg_trans_NIPA - no_errors NIPAL2 HGNC ENSG00000104361 82 0 0 52 5 8.77193 KCNS2 0 genome.wustl.edu 37 8 99441079 99441079 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 8 99441079 99441079 G A SNP KCNS2 ENST00000287042 human ensembl 74_37 +1 known missense c.872 p.G291D 1.000 pfam_Ion_trans_dom pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv2 - no_errors KCNS2 HGNC ENSG00000156486 102 0 0 59 39 39.7959 STK3 0 genome.wustl.edu 37 8 99539030 99539030 + Silent SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 8 99539030 99539030 A G SNP STK3 ENST00000419617 human ensembl 74_37 -1 known silent c.1257 p.P419 0.998 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Mst1_SARAH_domain,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SARAH_dom,pfscan_Prot_kinase_dom - no_errors STK3 HGNC ENSG00000104375 48 0 0 38 12 24 TDRD7 0 genome.wustl.edu 37 9 100240782 100240782 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 100240782 100240782 C T SNP TDRD7 ENST00000355295 human ensembl 74_37 +1 known missense c.2228 p.T743I 0.575 pfam_Tudor,smart_Tudor,pfscan_Tudor pfam_Tudor,smart_Tudor,pfscan_Tudor - no_errors TDRD7 HGNC ENSG00000196116 141 0 0 51 17 25 XPA 0 genome.wustl.edu 37 9 100456035 100456035 + Missense_Mutation SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 100456035 100456035 G T SNP XPA ENST00000375128 human ensembl 74_37 -1 known missense c.179 p.A60D 0.035 NULL pfam_XPA_C,pfam_Znf_XPA_CS,superfamily_DNA-bd_dom_put,tigrfam_XPA - no_errors XPA HGNC ENSG00000136936 66 0 0 19 18 48.6486 FOXE1 0 genome.wustl.edu 37 9 100617187 100617187 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 100617187 100617187 G A SNP FOXE1 ENST00000375123 human ensembl 74_37 +1 known missense c.991 p.G331S 0.987 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXE1 HGNC ENSG00000178919 15 0 0 18 18 50 MSANTD3 0 genome.wustl.edu 37 9 103204337 103204337 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 103204337 103204337 G A SNP MSANTD3 ENST00000395067 human ensembl 74_37 +1 known silent c.117 p.A39 0.001 NULL NULL - no_errors MSANTD3 HGNC ENSG00000066697 69 0 0 34 17 33.3333 RNF20 0 genome.wustl.edu 37 9 104309176 104309176 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 104309176 104309176 G A SNP RNF20 ENST00000389120 human ensembl 74_37 +1 known silent c.822 p.L274 0.966 superfamily_STAT_TF_coiled-coil superfamily_STAT_TF_coiled-coil,superfamily_Prefoldin,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF20 HGNC ENSG00000155827 79 0 0 46 7 13.2075 ABCA1 0 genome.wustl.edu 37 9 107602587 107602587 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 107602587 107602587 C T SNP ABCA1 ENST00000374736 human ensembl 74_37 -1 known missense c.1027 p.A343T 0.043 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA1 HGNC ENSG00000165029 89 0 0 38 21 35.5932 ZNF462 0 genome.wustl.edu 37 9 109690913 109690913 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 109690913 109690913 T C SNP ZNF462 ENST00000457913 human ensembl 74_37 +1 known missense c.4720 p.Y1574H 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF462 HGNC ENSG00000148143 64 0 0 62 7 10.1449 ZNF462 0 genome.wustl.edu 37 9 109694687 109694687 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 109694687 109694687 C T SNP ZNF462 ENST00000457913 human ensembl 74_37 +1 known silent c.6153 p.Y2051 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF462 HGNC ENSG00000148143 40 0 0 20 18 47.3684 ACTL7A 0 genome.wustl.edu 37 9 111625537 111625537 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 111625537 111625537 G A SNP ACTL7A ENST00000333999 human ensembl 74_37 +1 known missense c.935 p.C312Y 0.984 pfam_Actin-related,smart_Actin-related,prints_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTL7A HGNC ENSG00000187003 103 0 0 56 36 39.1304 IKBKAP 0 genome.wustl.edu 37 9 111673454 111673454 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 111673454 111673454 A G SNP IKBKAP ENST00000374647 human ensembl 74_37 -1 known missense c.1196 p.V399A 0.996 pfam_IKI3,pirsf_IKI3 pfam_IKI3,superfamily_ARM-type_fold,superfamily_UBA-like,pirsf_IKI3 - no_errors IKBKAP HGNC ENSG00000070061 44 0 0 19 9 32.1429 IKBKAP 0 genome.wustl.edu 37 9 111674645 111674645 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 111674645 111674645 C T SNP IKBKAP ENST00000374647 human ensembl 74_37 -1 known missense c.1088 p.C363Y 1.000 pfam_IKI3,pirsf_IKI3 pfam_IKI3,superfamily_ARM-type_fold,superfamily_UBA-like,pirsf_IKI3 - no_errors IKBKAP HGNC ENSG00000070061 88 0 0 62 17 21.519 EPB41L4B 0 genome.wustl.edu 37 9 111970203 111970203 + Splice_Site SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 111970203 111970203 C T SNP EPB41L4B ENST00000374566 human ensembl 74_37 -1 known splice_site c.1878+1 e18+1 1.000 - - - no_errors EPB41L4B HGNC ENSG00000095203 157 0 0 52 43 45.2632 SVEP1 0 genome.wustl.edu 37 9 113217886 113217886 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 113217886 113217886 G A SNP SVEP1 ENST00000401783 human ensembl 74_37 -1 known silent c.3771 p.C1257 0.025 pfam_EG-like_dom,pfam_EGF_extracell,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_Sushi_SCR_CCP,pfam_EG-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Growth_fac_rcpt_N_dom,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin - no_errors SVEP1 HGNC ENSG00000165124 36 0 0 19 9 32.1429 KIAA0368 0 genome.wustl.edu 37 9 114131334 114131334 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 114131334 114131334 C T SNP KIAA0368 ENST00000259335 human ensembl 74_37 -1 known silent c.5628 p.P1876 0.985 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors KIAA0368 HGNC ENSG00000136813 102 0 0 40 21 34.4262 KIAA0368 0 genome.wustl.edu 37 9 114145514 114145514 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 114145514 114145514 G A SNP KIAA0368 ENST00000259335 human ensembl 74_37 -1 known silent c.4314 p.T1438 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors KIAA0368 HGNC ENSG00000136813 31 0 0 26 10 27.7778 KIAA0368 0 genome.wustl.edu 37 9 114246712 114246712 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 114246712 114246712 C T SNP KIAA0368 ENST00000259335 human ensembl 74_37 -1 known silent c.201 p.A67 1.000 NULL superfamily_ARM-type_fold - no_errors KIAA0368 HGNC ENSG00000136813 22 0 0 15 16 51.6129 ZNF618 0 genome.wustl.edu 37 9 116750619 116750619 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 116750619 116750619 C T SNP ZNF618 ENST00000374126 human ensembl 74_37 +1 known silent c.96 p.S32 1.000 NULL superfamily_RNaseH-like_dom,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF618 HGNC ENSG00000157657 33 0 0 23 14 37.8378 ZNF618 0 genome.wustl.edu 37 9 116811006 116811006 + Missense_Mutation SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 116811006 116811006 G T SNP ZNF618 ENST00000374126 human ensembl 74_37 +1 known missense c.1424 p.R475M 1.000 NULL superfamily_RNaseH-like_dom,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF618 HGNC ENSG00000157657 91 0 0 62 36 36.7347 COL27A1 0 genome.wustl.edu 37 9 117050991 117050991 + Missense_Mutation SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 117050991 117050991 G T SNP COL27A1 ENST00000356083 human ensembl 74_37 +1 known missense c.4054 p.G1352C 1.000 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL27A1 HGNC ENSG00000196739 42 0 0 15 13 46.4286 TNC 0 genome.wustl.edu 37 9 117852871 117852871 + Nonsense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 117852871 117852871 C A SNP TNC ENST00000350763 human ensembl 74_37 -1 known nonsense c.427 p.G143* 0.999 NULL pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNC HGNC ENSG00000041982 230 0 0 101 69 40.5882 PAPPA 0 genome.wustl.edu 37 9 118950086 118950086 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 118950086 118950086 G A SNP PAPPA ENST00000328252 human ensembl 74_37 +1 known missense c.1069 p.V357M 1.000 NULL pfam_Sushi_SCR_CCP,pfam_Notch_dom,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA HGNC ENSG00000182752 78 0 0 22 10 31.25 ASTN2 0 genome.wustl.edu 37 9 119188190 119188190 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 119188190 119188190 C T SNP ASTN2 ENST00000313400 human ensembl 74_37 -1 known silent c.3960 p.T1320 0.018 NULL pfam_MACPF,superfamily_Fibronectin_type3,smart_MACPF - no_errors ASTN2 HGNC ENSG00000148219 43 0 0 38 22 36.6667 ASTN2 0 genome.wustl.edu 37 9 119903695 119903695 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 119903695 119903695 G A SNP ASTN2 ENST00000313400 human ensembl 74_37 -1 known missense c.1078 p.R360C 1.000 NULL pfam_MACPF,superfamily_Fibronectin_type3,smart_MACPF - no_errors ASTN2 HGNC ENSG00000148219 74 0 0 43 12 21.8182 ASTN2 0 genome.wustl.edu 37 9 120053672 120053672 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 120053672 120053672 G A SNP ASTN2 ENST00000313400 human ensembl 74_37 -1 known missense c.563 p.A188V 1.000 NULL pfam_MACPF,superfamily_Fibronectin_type3,smart_MACPF - no_errors ASTN2 HGNC ENSG00000148219 108 0 0 67 36 34.9515 TLR4 0 genome.wustl.edu 37 9 120476762 120476762 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 120476762 120476762 T C SNP TLR4 ENST00000355622 human ensembl 74_37 +1 known missense c.2356 p.Y786H 1.000 pirsf_Toll-like_receptor,pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR4 HGNC ENSG00000136869 119 0 0 58 42 42 PSMD5 0 genome.wustl.edu 37 9 123595605 123595605 + Silent SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 123595605 123595605 G T SNP PSMD5 ENST00000210313 human ensembl 74_37 -1 known silent c.303 p.I101 0.993 pfam_26S_Psome_nonATP_su5,superfamily_ARM-type_fold pfam_26S_Psome_nonATP_su5,superfamily_ARM-type_fold - no_errors PSMD5 HGNC ENSG00000095261 157 0 0 61 46 42.9907 TRAF1 0 genome.wustl.edu 37 9 123671571 123671571 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 123671571 123671571 C T SNP TRAF1 ENST00000373887 human ensembl 74_37 -1 known silent c.969 p.S323 0.000 pfam_MATH,superfamily_TRAF-like,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH pfam_MATH,superfamily_TRAF-like,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH - no_errors TRAF1 HGNC ENSG00000056558 349 0 0 194 140 41.9162 C5 0 genome.wustl.edu 37 9 123783955 123783955 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 123783955 123783955 C T SNP C5 ENST00000223642 human ensembl 74_37 -1 known silent c.1134 p.S378 0.000 NULL pfam_A2M_comp,pfam_Macroglobln_a2,pfam_A2M_N_2,pfam_A-macroglobulin_rcpt-bd,pfam_Netrin_module_non-TIMP,pfam_A2M_N,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_comp_syst,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain,prints_Anaphylatoxn_comp_syst_dom - no_errors C5 HGNC ENSG00000106804 145 0 0 57 29 33.7209 DAB2IP 0 genome.wustl.edu 37 9 124535231 124535231 + Silent SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 124535231 124535231 C A SNP DAB2IP ENST00000408936 human ensembl 74_37 +1 known silent c.2424 p.T808 1.000 pfam_DUF3498 pfam_DUF3498,pfam_RasGAP,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP - no_errors DAB2IP HGNC ENSG00000136848 64 0 0 35 13 27.0833 OR1B1 0 genome.wustl.edu 37 9 125391289 125391289 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 125391289 125391289 C T SNP OR1B1 ENST00000304833 human ensembl 74_37 -1 known missense c.526 p.G176S 0.034 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1B1 HGNC ENSG00000171484 59 0 0 16 11 40.7407 OR1K1 0 genome.wustl.edu 37 9 125562731 125562731 + Silent SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 125562731 125562731 A G SNP OR1K1 ENST00000277309 human ensembl 74_37 +1 known silent c.330 p.V110 0.005 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1K1 HGNC ENSG00000165204 102 0 0 59 32 35.1648 RC3H2 0 genome.wustl.edu 37 9 125652521 125652521 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 125652521 125652521 C T SNP RC3H2 ENST00000471874 human ensembl 74_37 -1 known missense c.653 p.R218Q 0.029 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors RC3H2 HGNC ENSG00000056586 18 0 0 11 4 26.6667 ZBTB6 0 genome.wustl.edu 37 9 125674193 125674193 + Silent SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 125674193 125674193 A G SNP ZBTB6 ENST00000373659 human ensembl 74_37 -1 known silent c.159 p.A53 0.988 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like 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 ZBTB6 HGNC ENSG00000186130 137 0 0 54 31 36.4706 RABGAP1 0 genome.wustl.edu 37 9 125761008 125761008 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 125761008 125761008 G A SNP RABGAP1 ENST00000373647 human ensembl 74_37 +1 known missense c.1337 p.R446H 1.000 NULL pfam_Rab-GTPase-TBC_dom,pfam_Kinesin-like,pfam_PTB/PI_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTB/PI_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTB/PI_dom,pfscan_Rab-GTPase-TBC_dom - no_errors RABGAP1 HGNC ENSG00000011454 102 0 0 48 28 36.8421 RABGAP1 0 genome.wustl.edu 37 9 125839022 125839022 + Missense_Mutation SNP A A T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 125839022 125839022 A T SNP RABGAP1 ENST00000373647 human ensembl 74_37 +1 known missense c.2405 p.E802V 1.000 superfamily_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,pfam_Kinesin-like,pfam_PTB/PI_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTB/PI_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTB/PI_dom,pfscan_Rab-GTPase-TBC_dom - no_errors RABGAP1 HGNC ENSG00000011454 44 0 0 11 6 35.2941 CRB2 0 genome.wustl.edu 37 9 126134517 126134517 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 126134517 126134517 G A SNP CRB2 ENST00000373631 human ensembl 74_37 +1 known missense c.2498 p.C833Y 1.000 pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors CRB2 HGNC ENSG00000148204 91 0 0 50 28 35.8974 LHX2 0 genome.wustl.edu 37 9 126777648 126777648 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 126777648 126777648 G A SNP LHX2 ENST00000373615 human ensembl 74_37 +1 known missense c.571 p.A191T 0.068 NULL pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom - no_errors LHX2 HGNC ENSG00000106689 41 0 0 58 4 6.45161 MAPKAP1 0 genome.wustl.edu 37 9 128246828 128246828 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 128246828 128246828 C T SNP MAPKAP1 ENST00000265960 human ensembl 74_37 -1 known silent c.1101 p.S367 0.010 pfam_SIN1 pfam_SIN1 - no_errors MAPKAP1 HGNC ENSG00000119487 83 0 0 50 4 7.40741 MVB12B 0 genome.wustl.edu 37 9 129102803 129102803 + Missense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 129102803 129102803 C A SNP MVB12B ENST00000361171 human ensembl 74_37 +1 known missense c.98 p.P33H 1.000 NULL pfam_FAM125 - no_errors MVB12B HGNC ENSG00000196814 125 0 0 51 26 33.7662 ZBTB43 0 genome.wustl.edu 37 9 129595580 129595580 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 129595580 129595580 C T SNP ZBTB43 ENST00000373457 human ensembl 74_37 +1 known silent c.792 p.Y264 0.013 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB43 HGNC ENSG00000169155 37 0 0 14 15 51.7241 GARNL3 0 genome.wustl.edu 37 9 130155573 130155573 + RNA SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 130155573 130155573 G A SNP GARNL3 ENST00000496711 human ensembl 74_37 +1 known rna NULL NULL 0.006 - - - no_errors GARNL3 HGNC ENSG00000136895 56 0 0 33 4 10.8108 SLC2A8 0 genome.wustl.edu 37 9 130167203 130167203 + Silent SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 130167203 130167203 A G SNP SLC2A8 ENST00000373371 human ensembl 74_37 +1 known silent c.1083 p.A361 0.000 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,tigrfam_Sugar/inositol_transpt - no_errors SLC2A8 HGNC ENSG00000136856 89 0 0 55 23 29.4872 STXBP1 0 genome.wustl.edu 37 9 130438929 130438929 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 130438929 130438929 C T SNP STXBP1 ENST00000373299 human ensembl 74_37 +1 known missense c.1256 p.T419M 1.000 pfam_Sec1-like,superfamily_Sec1-like pfam_Sec1-like,superfamily_Sec1-like - no_errors STXBP1 HGNC ENSG00000136854 34 0 0 23 12 34.2857 SH2D3C 0 genome.wustl.edu 37 9 130507283 130507283 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 130507283 130507283 C T SNP SH2D3C ENST00000314830 human ensembl 74_37 -1 known missense c.1360 p.G454R 0.636 NULL pfam_SH2,pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_SH2,smart_RasGRF_CDC25,pfscan_SH2,pfscan_RasGRF_CDC25 - no_errors SH2D3C HGNC ENSG00000095370 81 0 0 60 35 36.8421 FPGS 0 genome.wustl.edu 37 9 130566653 130566653 + Missense_Mutation SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 130566653 130566653 G T SNP FPGS ENST00000373247 human ensembl 74_37 +1 known missense c.228 p.L76F 1.000 superfamily_Mur_ligase_cen,tigrfam_Folylpolyglutamate_synth superfamily_Mur_ligase_cen,superfamily_Mur_ligase_C,tigrfam_Folylpolyglutamate_synth - no_errors FPGS HGNC ENSG00000136877 71 0 0 36 19 34.5455 ST6GALNAC6 0 genome.wustl.edu 37 9 130649057 130649057 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 130649057 130649057 G A SNP ST6GALNAC6 ENST00000291839 human ensembl 74_37 -1 known missense c.823 p.R275C 1.000 pfam_Glyco_trans_29 pfam_Glyco_trans_29 - no_errors ST6GALNAC6 HGNC ENSG00000160408 56 0 0 23 28 54.902 PKN3 0 genome.wustl.edu 37 9 131477738 131477738 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 131477738 131477738 A G SNP PKN3 ENST00000291906 human ensembl 74_37 +1 known missense c.1807 p.S603G 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_HR1_rho-bd,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,superfamily_C2_dom,smart_HR1_rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom - no_errors PKN3 HGNC ENSG00000160447 61 0 0 37 26 41.2698 ZER1 0 genome.wustl.edu 37 9 131516110 131516110 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 131516110 131516110 T C SNP ZER1 ENST00000291900 human ensembl 74_37 -1 known missense c.287 p.D96G 1.000 NULL superfamily_ARM-type_fold,smart_Armadillo - no_errors ZER1 HGNC ENSG00000160445 13 0 0 13 7 35 C9orf114 0 genome.wustl.edu 37 9 131588873 131588873 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 131588873 131588873 T C SNP C9orf114 ENST00000361256 human ensembl 74_37 -1 known missense c.404 p.K135R 1.000 pfam_Put_MeTrfase pfam_Put_MeTrfase,superfamily_NA-bd_OB-fold - no_errors C9orf114 HGNC ENSG00000198917 48 0 0 20 15 42.8571 NUP188 0 genome.wustl.edu 37 9 131715088 131715088 + Nonsense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 131715088 131715088 C T SNP NUP188 ENST00000372577 human ensembl 74_37 +1 known nonsense c.124 p.R42* 1.000 pfam_Nucleoporin_Nup188 pfam_Nucleoporin_Nup188,superfamily_ARM-type_fold - no_errors NUP188 HGNC ENSG00000095319 83 0 0 47 22 31.8841 NUP188 0 genome.wustl.edu 37 9 131733113 131733113 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 131733113 131733113 G A SNP NUP188 ENST00000372577 human ensembl 74_37 +1 known missense c.989 p.R330H 1.000 pfam_Nucleoporin_Nup188 pfam_Nucleoporin_Nup188,superfamily_ARM-type_fold - no_errors NUP188 HGNC ENSG00000095319 112 0 0 64 39 37.8641 MPDZ 0 genome.wustl.edu 37 9 13183417 13183417 + Missense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 13183417 13183417 C A SNP MPDZ ENST00000319217 human ensembl 74_37 -1 known missense c.2649 p.K883N 1.000 NULL pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_PDZ,pfscan_L27,pfscan_PDZ - no_errors MPDZ HGNC ENSG00000107186 29 0 0 13 6 31.5789 TOR1B 0 genome.wustl.edu 37 9 132569623 132569623 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 132569623 132569623 G A SNP TOR1B ENST00000259339 human ensembl 74_37 +1 known missense c.622 p.A208T 1.000 pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,pirsf_Torsin_subgr pfam_Torsin,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,pirsf_Torsin_subgr - no_errors TOR1B HGNC ENSG00000136816 165 0 0 90 35 28 PPAPDC3 0 genome.wustl.edu 37 9 134183546 134183546 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 134183546 134183546 G A SNP PPAPDC3 ENST00000372264 human ensembl 74_37 +1 known missense c.688 p.V230M 0.986 pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors PPAPDC3 HGNC ENSG00000160539 43 0 0 34 6 15 PRRC2B 0 genome.wustl.edu 37 9 134323116 134323116 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 134323116 134323116 C T SNP PRRC2B ENST00000357304 human ensembl 74_37 +1 known missense c.1045 p.R349W 0.998 NULL pfam_BAT2_N - no_errors PRRC2B HGNC ENSG00000130723 39 0 0 20 10 33.3333 RAPGEF1 0 genome.wustl.edu 37 9 134473641 134473641 + Missense_Mutation SNP T T G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 134473641 134473641 T G SNP RAPGEF1 ENST00000372190 human ensembl 74_37 -1 known missense c.2054 p.E685A 1.000 superfamily_Ras_GEF_dom pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RAPGEF1 HGNC ENSG00000107263 36 0 0 25 14 35.8974 NTNG2 0 genome.wustl.edu 37 9 135073695 135073695 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 135073695 135073695 T C SNP NTNG2 ENST00000360670 human ensembl 74_37 +1 known missense c.556 p.S186P 0.997 pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N pfam_Laminin_N,pfam_EGF_laminin,pfam_EGF_extracell,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors NTNG2 HGNC ENSG00000196358 46 0 0 31 26 45.614 SETX 0 genome.wustl.edu 37 9 135153636 135153636 + Missense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 135153636 135153636 C A SNP SETX ENST00000372169 human ensembl 74_37 -1 known missense c.6663 p.Q2221H 1.000 superfamily_P-loop_NTPase superfamily_P-loop_NTPase - no_errors SETX HGNC ENSG00000107290 117 0 0 79 11 12.2222 AK8 0 genome.wustl.edu 37 9 135690031 135690031 + Missense_Mutation SNP T T G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 135690031 135690031 T G SNP AK8 ENST00000298545 human ensembl 74_37 -1 known missense c.973 p.M325L 0.000 pfam_Adenylate_kin,superfamily_P-loop_NTPase pfam_Adenylate_kin,superfamily_P-loop_NTPase,superfamily_Adenylate_kinase_lid-dom,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,prints_Adenylate_kin - no_errors AK8 HGNC ENSG00000165695 61 0 0 45 24 34.7826 GTF3C5 0 genome.wustl.edu 37 9 135919143 135919143 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 135919143 135919143 G A SNP GTF3C5 ENST00000372108 human ensembl 74_37 +1 known silent c.402 p.V134 0.987 pfam_TF_IIIC_su-5 pfam_TF_IIIC_su-5 - no_errors GTF3C5 HGNC ENSG00000148308 97 0 0 63 13 17.1053 CEL 0 genome.wustl.edu 37 9 135945943 135945943 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 135945943 135945943 A G SNP CEL ENST00000372080 human ensembl 74_37 +1 known missense c.1391 p.Y464C 0.999 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CEL HGNC ENSG00000170835 131 0 0 65 50 43.4783 GBGT1 0 genome.wustl.edu 37 9 136030623 136030623 + Nonsense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 136030623 136030623 G A SNP GBGT1 ENST00000372040 human ensembl 74_37 -1 known nonsense c.301 p.Q101* 0.811 pfam_Glyco_trans_6 pfam_Glyco_trans_6 - no_errors GBGT1 HGNC ENSG00000148288 44 0 0 26 17 39.5349 MED22 0 genome.wustl.edu 37 9 136208462 136208462 + Missense_Mutation SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 136208462 136208462 G T SNP MED22 ENST00000343730 human ensembl 74_37 -1 known missense c.496 p.L166I 1.000 NULL pfam_Mediator_Med22 - no_errors MED22 HGNC ENSG00000148297 34 0 0 28 13 31.7073 ADAMTS13 0 genome.wustl.edu 37 9 136305465 136305465 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 136305465 136305465 C T SNP ADAMTS13 ENST00000371929 human ensembl 74_37 +1 known missense c.1787 p.A596V 0.998 NULL pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,superfamily_CUB_dom,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS13 HGNC ENSG00000160323 90 0 0 64 17 20.9877 ADAMTSL2 0 genome.wustl.edu 37 9 136406103 136406103 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 136406103 136406103 G A SNP ADAMTSL2 ENST00000393061 human ensembl 74_37 +1 known missense c.989 p.R330H 1.000 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 37 0 0 29 9 23.6842 SARDH 0 genome.wustl.edu 37 9 136573438 136573438 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 136573438 136573438 G A SNP SARDH ENST00000371872 human ensembl 74_37 -1 known missense c.1441 p.R481C 0.999 NULL pfam_FAD-dep_OxRdtase,pfam_GCV_T_N,pfam_GCV_T_C - no_errors SARDH HGNC ENSG00000123453 101 0 0 68 42 38.1818 VAV2 0 genome.wustl.edu 37 9 136726543 136726543 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 136726543 136726543 C T SNP VAV2 ENST00000371850 human ensembl 74_37 -1 known silent c.333 p.A111 0.109 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_DH-domain,pfam_SH3_2,pfam_CAMSAP_CH,pfam_SH3_domain,pfam_SH2,pfam_CH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,smart_SH2,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain,prints_SH2,prints_SH3_domain - no_errors VAV2 HGNC ENSG00000160293 32 0 0 17 10 37.037 BRD3 0 genome.wustl.edu 37 9 136913300 136913300 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 136913300 136913300 C T SNP BRD3 ENST00000303407 human ensembl 74_37 -1 known missense c.991 p.A331T 1.000 pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors BRD3 HGNC ENSG00000169925 26 0 0 15 19 55.8824 FCN2 0 genome.wustl.edu 37 9 137775200 137775200 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 137775200 137775200 C T SNP FCN2 ENST00000291744 human ensembl 74_37 +1 known silent c.267 p.N89 0.976 pfam_Collagen pfam_Fibrinogen_a/b/g_C_dom,pfam_Collagen,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors FCN2 HGNC ENSG00000160339 58 0 0 31 21 40.3846 MRPS2 0 genome.wustl.edu 37 9 138393669 138393669 + RNA SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 138393669 138393669 C T SNP MRPS2 ENST00000472852 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MRPS2 HGNC ENSG00000122140 101 0 0 37 35 48.6111 KCNT1 0 genome.wustl.edu 37 9 138678159 138678159 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 138678159 138678159 C T SNP KCNT1 ENST00000298480 human ensembl 74_37 +1 known silent c.3294 p.D1098 1.000 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom - no_errors KCNT1 HGNC ENSG00000107147 9 0 0 21 4 16 UBAC1 0 genome.wustl.edu 37 9 138830129 138830129 + Silent SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 138830129 138830129 A G SNP UBAC1 ENST00000371756 human ensembl 74_37 -1 known silent c.1041 p.F347 0.992 superfamily_UBA-like pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,smart_STI1_HS-bd,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors UBAC1 HGNC ENSG00000130560 88 0 0 74 10 11.9048 LCN6 0 genome.wustl.edu 37 9 139641987 139641987 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 139641987 139641987 A G SNP LCN6 ENST00000341206 human ensembl 74_37 -1 known missense c.119 p.V40A 0.572 pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like - no_errors LCN6 HGNC ENSG00000267206 59 0 0 36 24 40 MAMDC4 0 genome.wustl.edu 37 9 139754412 139754412 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 139754412 139754412 C T SNP MAMDC4 ENST00000445819 human ensembl 74_37 +1 known silent c.3505 p.L1169 0.885 NULL pfam_MAM_dom,pfam_LDrepeatLR_classA_rpt,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_MAM_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,prints_LDrepeatLR_classA_rpt - no_errors MAMDC4 HGNC ENSG00000177943 15 0 0 23 16 41.0256 FBXW5 0 genome.wustl.edu 37 9 139836473 139836473 + RNA SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 139836473 139836473 G A SNP FBXW5 ENST00000487794 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors FBXW5 HGNC ENSG00000159069 18 0 0 9 7 43.75 FBXW5 0 genome.wustl.edu 37 9 139836876 139836876 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 139836876 139836876 T C SNP FBXW5 ENST00000325285 human ensembl 74_37 -1 known missense c.718 p.K240E 1.000 superfamily_Quinoprot_gluc/sorb_DH pfam_WD40_repeat,pfam_F-box_dom,superfamily_Quinoprot_gluc/sorb_DH,superfamily_F-box_dom,smart_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors FBXW5 HGNC ENSG00000159069 65 0 0 30 19 38.7755 ABCA2 0 genome.wustl.edu 37 9 139917374 139917374 + RNA SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 139917374 139917374 G T SNP ABCA2 ENST00000492260 human ensembl 74_37 -1 known rna NULL NULL 0.029 - - - no_errors ABCA2 HGNC ENSG00000107331 10 0 0 7 4 36.3636 UAP1L1 0 genome.wustl.edu 37 9 139973063 139973063 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 139973063 139973063 C T SNP UAP1L1 ENST00000409858 human ensembl 74_37 +1 known silent c.604 p.L202 1.000 pfam_UDPGP_trans pfam_UDPGP_trans - no_errors UAP1L1 HGNC ENSG00000197355 62 0 0 33 33 50 FAM166A 0 genome.wustl.edu 37 9 140139908 140139908 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 140139908 140139908 G A SNP FAM166A ENST00000344774 human ensembl 74_37 -1 known silent c.373 p.L125 0.000 NULL pfam_UPF0573/UPF0605 - no_errors FAM166A HGNC ENSG00000188163 120 0 0 57 53 48.1818 EXD3 0 genome.wustl.edu 37 9 140246528 140246528 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 140246528 140246528 G A SNP EXD3 ENST00000340951 human ensembl 74_37 -1 known missense c.1163 p.A388V 0.000 superfamily_RNaseH-like_dom,smart_3'-5'_exonuclease_dom pfam_Mut7-C_RNAse_dom,pfam_3'-5'_exonuclease_dom,superfamily_RNaseH-like_dom,smart_3'-5'_exonuclease_dom - no_errors EXD3 HGNC ENSG00000187609 31 0 0 15 12 44.4444 NSMF 0 genome.wustl.edu 37 9 140347536 140347536 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 140347536 140347536 G A SNP NSMF ENST00000371475 human ensembl 74_37 -1 known missense c.1019 p.T340I 0.219 NULL superfamily_P-loop_NTPase - no_errors NSMF HGNC ENSG00000165802 50 0 0 47 6 11.3208 PNPLA7 0 genome.wustl.edu 37 9 140372528 140372528 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 140372528 140372528 G A SNP PNPLA7 ENST00000406427 human ensembl 74_37 -1 known missense c.2840 p.T947M 1.000 superfamily_Acyl_Trfase/lysoPLipase pfam_cNMP-bd_dom,pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors PNPLA7 HGNC ENSG00000130653 8 0 0 5 3 37.5 PNPLA7 0 genome.wustl.edu 37 9 140379167 140379167 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 140379167 140379167 G A SNP PNPLA7 ENST00000406427 human ensembl 74_37 -1 known missense c.2219 p.T740M 0.000 NULL pfam_cNMP-bd_dom,pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors PNPLA7 HGNC ENSG00000130653 26 0 0 11 6 35.2941 PNPLA7 0 genome.wustl.edu 37 9 140396151 140396151 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 140396151 140396151 G A SNP PNPLA7 ENST00000406427 human ensembl 74_37 -1 known missense c.1502 p.A501V 0.424 superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom pfam_cNMP-bd_dom,pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors PNPLA7 HGNC ENSG00000130653 38 0 0 21 9 30 EHMT1 0 genome.wustl.edu 37 9 140707883 140707883 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 140707883 140707883 C T SNP EHMT1 ENST00000460843 human ensembl 74_37 +1 known silent c.3081 p.N1027 0.634 pfam_Pre-SET_dom,smart_Pre-SET_Zn-bd_sub pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt - no_errors EHMT1 HGNC ENSG00000181090 31 0 0 15 9 37.5 CACNA1B 0 genome.wustl.edu 37 9 140852063 140852063 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 140852063 140852063 G A SNP CACNA1B ENST00000371355 human ensembl 74_37 +1 known silent c.1260 p.A420 0.264 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_N_a1su,prints_PKD_2 - no_errors CACNA1B HGNC ENSG00000148408 10 0 0 10 4 28.5714 CCDC171 0 genome.wustl.edu 37 9 15744460 15744460 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 15744460 15744460 G A SNP CCDC171 ENST00000380701 human ensembl 74_37 +1 known missense c.2239 p.A747T 1.000 NULL superfamily_STAT_TF_coiled-coil - no_errors CCDC171 HGNC ENSG00000164989 226 0 0 141 11 7.23684 BNC2 0 genome.wustl.edu 37 9 16436034 16436034 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 16436034 16436034 G A SNP BNC2 ENST00000380672 human ensembl 74_37 -1 known missense c.2158 p.R720W 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BNC2 HGNC ENSG00000173068 129 0 0 52 26 33.3333 CNTLN 0 genome.wustl.edu 37 9 17464498 17464498 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 17464498 17464498 A G SNP CNTLN ENST00000380647 human ensembl 74_37 +1 known missense c.3408 p.I1136M 0.952 NULL superfamily_Prefoldin - no_errors CNTLN HGNC ENSG00000044459 152 0 0 47 35 42.6829 ADAMTSL1 0 genome.wustl.edu 37 9 18721613 18721613 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 18721613 18721613 C T SNP ADAMTSL1 ENST00000380548 human ensembl 74_37 +1 novel silent c.1956 p.R652 0.994 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors ADAMTSL1 HGNC ENSG00000178031 109 0 0 43 53 55.2083 PLIN2 0 genome.wustl.edu 37 9 19116264 19116264 + Silent SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 19116264 19116264 A G SNP PLIN2 ENST00000276914 human ensembl 74_37 -1 known silent c.1296 p.S432 0.057 NULL pfam_Perilipin,pirsf_Perilipin - no_errors PLIN2 HGNC ENSG00000147872 95 0 0 44 25 36.2319 SMARCA2 0 genome.wustl.edu 37 9 2039678 2039678 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 2039678 2039678 A G SNP SMARCA2 ENST00000349721 human ensembl 74_37 +1 known missense c.568 p.K190E 1.000 pfam_Gln-Leu-Gln_QLQ,smart_Gln-Leu-Gln_QLQ pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_P-loop_NTPase,superfamily_Bromodomain,superfamily_RNaseH-like_dom,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain - no_errors SMARCA2 HGNC ENSG00000080503 90 0 0 57 27 32.1429 FOCAD 0 genome.wustl.edu 37 9 20885257 20885257 + RNA SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 20885257 20885257 T C SNP FOCAD ENST00000603552 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors FOCAD HGNC ENSG00000188352 78 0 0 33 18 35.2941 FOCAD 0 genome.wustl.edu 37 9 20990121 20990121 + Splice_Site SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 20990121 20990121 G T SNP FOCAD ENST00000338382 human ensembl 74_37 +1 known splice_site c.5005-1 e41-1 1.000 - - - no_errors FOCAD HGNC ENSG00000188352 80 0 0 30 18 37.5 IFNW1 0 genome.wustl.edu 37 9 21141078 21141078 + Nonsense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 21141078 21141078 C T SNP IFNW1 ENST00000380229 human ensembl 74_37 -1 known nonsense c.492 p.W164* 1.000 pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta - no_errors IFNW1 HGNC ENSG00000177047 116 0 0 45 15 25 SMARCA2 0 genome.wustl.edu 37 9 2191331 2191331 + Missense_Mutation SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 2191331 2191331 G T SNP SMARCA2 ENST00000349721 human ensembl 74_37 +1 known missense c.4660 p.G1554C 1.000 NULL pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_P-loop_NTPase,superfamily_Bromodomain,superfamily_RNaseH-like_dom,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain - no_errors SMARCA2 HGNC ENSG00000080503 81 0 0 40 25 38.4615 CDKN2A 0 genome.wustl.edu 37 9 21970981 21970981 + Missense_Mutation SNP A A T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 21970981 21970981 A T SNP CDKN2A ENST00000446177 human ensembl 74_37 -1 known missense c.377 p.V126D 0.581 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom - no_errors CDKN2A HGNC ENSG00000147889 45 0 0 29 19 39.5833 LRRC19 0 genome.wustl.edu 37 9 26998170 26998170 + Missense_Mutation SNP T T A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 26998170 26998170 T A SNP LRRC19 ENST00000380055 human ensembl 74_37 -1 known missense c.151 p.I51L 0.964 NULL smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRRC19 HGNC ENSG00000184434 65 0 0 28 18 39.1304 KCNV2 0 genome.wustl.edu 37 9 2718806 2718806 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 2718806 2718806 C T SNP KCNV2 ENST00000382082 human ensembl 74_37 +1 known missense c.1067 p.T356M 0.845 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCNV2 HGNC ENSG00000168263 122 0 0 74 41 35.6522 AQP3 0 genome.wustl.edu 37 9 33442199 33442199 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 33442199 33442199 G A SNP AQP3 ENST00000297991 human ensembl 74_37 -1 known missense c.721 p.H241Y 0.086 pfam_MIP,superfamily_Aquaporin-like,tigrfam_MIP pfam_MIP,superfamily_Aquaporin-like,prints_Aquaporin_3,prints_MIP,tigrfam_MIP - no_errors AQP3 HGNC ENSG00000165272 80 0 0 56 17 23.2877 PTENP1 0 genome.wustl.edu 37 9 33676757 33676757 + RNA SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 33676757 33676757 C A SNP PTENP1 ENST00000532280 human ensembl 74_37 -1 known rna NULL NULL 0.993 - - - no_errors PTENP1 HGNC ENSG00000237984 30 0 0 17 9 34.6154 DCAF12 0 genome.wustl.edu 37 9 34098434 34098434 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 34098434 34098434 C T SNP DCAF12 ENST00000361264 human ensembl 74_37 -1 known missense c.683 p.R228Q 0.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF12 HGNC ENSG00000198876 121 0 0 66 40 37.7358 DNAI1 0 genome.wustl.edu 37 9 34500820 34500820 + Silent SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 34500820 34500820 C A SNP DNAI1 ENST00000242317 human ensembl 74_37 +1 known silent c.1002 p.S334 0.359 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DNAI1 HGNC ENSG00000122735 52 0 0 34 6 15 CNTFR 0 genome.wustl.edu 37 9 34568917 34568917 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 34568917 34568917 G A SNP CNTFR ENST00000351266 human ensembl 74_37 -1 known silent c.63 p.Y21 0.988 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTFR HGNC ENSG00000122756 13 0 0 8 3 27.2727 FAM214B 0 genome.wustl.edu 37 9 35107521 35107521 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 35107521 35107521 G A SNP FAM214B ENST00000322813 human ensembl 74_37 -1 known missense c.751 p.P251S 0.865 NULL NULL - no_errors FAM214B HGNC ENSG00000005238 155 0 0 132 40 23.2558 RUSC2 0 genome.wustl.edu 37 9 35546612 35546612 + Missense_Mutation SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 35546612 35546612 G T SNP RUSC2 ENST00000361226 human ensembl 74_37 +1 known missense c.94 p.G32W 0.940 NULL pfam_Run,pfam_SH3_2,superfamily_SH3_domain,smart_Run,smart_SH3_domain,pfscan_Run,pfscan_SH3_domain - no_errors RUSC2 HGNC ENSG00000198853 140 0 0 81 43 34.6774 FAM166B 0 genome.wustl.edu 37 9 35562663 35562663 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 35562663 35562663 C T SNP FAM166B ENST00000447837 human ensembl 74_37 -1 known missense c.527 p.R176Q 0.018 NULL pfam_UPF0573/UPF0605 - no_errors FAM166B HGNC ENSG00000215187 37 0 0 22 15 40.5405 CA9 0 genome.wustl.edu 37 9 35676366 35676366 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 35676366 35676366 G A SNP CA9 ENST00000378357 human ensembl 74_37 +1 known missense c.820 p.V274M 0.965 pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a - no_errors CA9 HGNC ENSG00000107159 193 0 0 93 68 42.236 TMEM8B 0 genome.wustl.edu 37 9 35846850 35846850 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 35846850 35846850 C T SNP TMEM8B ENST00000377988 human ensembl 74_37 +1 known missense c.677 p.A226V 1.000 NULL pfam_DUF3522 - no_errors TMEM8B HGNC ENSG00000137103 149 0 0 49 35 41.6667 GNE 0 genome.wustl.edu 37 9 36246457 36246457 + Nonsense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 36246457 36246457 G A SNP GNE ENST00000396594 human ensembl 74_37 -1 known nonsense c.280 p.Q94* 1.000 pfam_UDP_GlcNAc_Epimerase_2,tigrfam_UDP-GlcNAc_Epase pfam_UDP_GlcNAc_Epimerase_2,pfam_ROK,prints_Hexokinase,tigrfam_UDP-GlcNAc_Epase - no_errors GNE HGNC ENSG00000159921 83 0 0 26 20 43.4783 ZBTB5 0 genome.wustl.edu 37 9 37442190 37442190 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 37442190 37442190 G A SNP ZBTB5 ENST00000307750 human ensembl 74_37 -1 known missense c.359 p.T120M 0.997 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB5 HGNC ENSG00000168795 134 0 0 58 43 42.5743 POLR1E 0 genome.wustl.edu 37 9 37503056 37503056 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 37503056 37503056 A G SNP POLR1E ENST00000377792 human ensembl 74_37 +1 known missense c.1303 p.K435E 0.990 pfam_RNA_pol-assoc_fac_A49-like pfam_RNA_pol-assoc_fac_A49-like - no_errors POLR1E HGNC ENSG00000137054 156 0 0 134 22 14.1026 FBXO10 0 genome.wustl.edu 37 9 37521665 37521665 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 37521665 37521665 C T SNP FBXO10 ENST00000432825 human ensembl 74_37 -1 known missense c.2101 p.A701T 0.989 smart_Carb-bd_sugar_hydrolysis-dom pfam_F-box_dom,superfamily_Pectin_lyase_fold/virulence,superfamily_F-box_dom,smart_F-box_dom,smart_PbH1,smart_Carb-bd_sugar_hydrolysis-dom,pfscan_F-box_dom,tigrfam_Para_beta_helix_rpt-2 - no_errors FBXO10 HGNC ENSG00000147912 50 0 0 51 6 10.5263 ALDH1B1 0 genome.wustl.edu 37 9 38396150 38396150 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 38396150 38396150 C T SNP ALDH1B1 ENST00000377698 human ensembl 74_37 +1 known silent c.405 p.Y135 0.906 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH - no_errors ALDH1B1 HGNC ENSG00000137124 171 0 0 96 79 45.1429 GLIS3 0 genome.wustl.edu 37 9 4117916 4117916 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 4117916 4117916 A G SNP GLIS3 ENST00000381971 human ensembl 74_37 -1 known missense c.1562 p.I521T 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLIS3 HGNC ENSG00000107249 102 0 0 54 38 41.3043 KGFLP2 0 genome.wustl.edu 37 9 41963899 41963899 + RNA SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 41963899 41963899 G T SNP KGFLP2 ENST00000454645 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-204M4.2 Clone_based_vega_gene ENSG00000204837 166 0 0 86 15 14.8515 FOXD4L5 0 genome.wustl.edu 37 9 70177685 70177685 + Missense_Mutation SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 70177685 70177685 G T SNP FOXD4L5 ENST00000377420 human ensembl 74_37 -1 known missense c.299 p.S100Y 0.011 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXD4L5 HGNC ENSG00000204779 182 0 0 189 43 18.5345 PGM5 0 genome.wustl.edu 37 9 70993152 70993152 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 70993152 70993152 C T SNP PGM5 ENST00000396396 human ensembl 74_37 +1 known missense c.299 p.S100L 1.000 pfam_A-D-PHexomutase_a/b/a-I,superfamily_A-D-PHexomutase_a/b/a-I/II/III pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-III,pfam_A-D-PHexomutase_a/b/a-II,superfamily_A-D-PHexomutase_a/b/a-I/II/III,prints_Alpha-D-phosphohexomutase_SF - no_errors PGM5 HGNC ENSG00000154330 49 0 0 61 24 28.2353 TJP2 0 genome.wustl.edu 37 9 71854958 71854958 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 71854958 71854958 G A SNP TJP2 ENST00000539225 human ensembl 74_37 +1 known missense c.2554 p.V852I 0.979 pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,smart_GK/Ca_channel_bsu,pfscan_Guanylate_kin-like pfam_PDZ,pfam_GK/Ca_channel_bsu,pfam_SH3_2,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_PDZ,smart_GK/Ca_channel_bsu,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like,prints_ZonOcculS2,prints_ZonOcculdens - no_errors TJP2 HGNC ENSG00000119139 62 0 0 23 15 39.4737 TJP2 0 genome.wustl.edu 37 9 71869217 71869217 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 71869217 71869217 G A SNP TJP2 ENST00000539225 human ensembl 74_37 +1 known missense c.3593 p.R1198H 1.000 NULL pfam_PDZ,pfam_GK/Ca_channel_bsu,pfam_SH3_2,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_PDZ,smart_GK/Ca_channel_bsu,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like,prints_ZonOcculS2,prints_ZonOcculdens - no_errors TJP2 HGNC ENSG00000119139 130 0 0 92 10 9.80392 TRPM3 0 genome.wustl.edu 37 9 73151350 73151350 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 73151350 73151350 G A SNP TRPM3 ENST00000423814 human ensembl 74_37 -1 known missense c.4724 p.T1575I 1.000 NULL pfam_Ion_trans_dom - no_errors TRPM3 HGNC ENSG00000083067 109 0 0 55 23 29.4872 GCNT1 0 genome.wustl.edu 37 9 79117265 79117265 + RNA SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 79117265 79117265 C A SNP GCNT1 ENST00000480311 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors GCNT1 HGNC ENSG00000187210 51 0 0 32 2 5.88235 PRUNE2 0 genome.wustl.edu 37 9 79259732 79259732 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 79259732 79259732 G A SNP PRUNE2 ENST00000428286 human ensembl 74_37 -1 known missense c.7577 p.T2526I 0.998 pfam_Bcl2-/adenovirus-E1B pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom - no_errors PRUNE2 HGNC ENSG00000106772 53 0 0 33 23 41.0714 DMRT1 0 genome.wustl.edu 37 9 841877 841877 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 841877 841877 G A SNP DMRT1 ENST00000382276 human ensembl 74_37 +1 known silent c.39 p.P13 0.000 NULL pfam_DM_DNA-bd,pfam_DMRT1-like,superfamily_DM_DNA-bd,smart_DM_DNA-bd,pfscan_DM_DNA-bd - no_errors DMRT1 HGNC ENSG00000137090 33 0 0 28 2 6.66667 TLE1 0 genome.wustl.edu 37 9 84208020 84208020 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 84208020 84208020 T C SNP TLE1 ENST00000376499 human ensembl 74_37 -1 known missense c.1501 p.T501A 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance - no_errors TLE1 HGNC ENSG00000196781 167 0 0 128 14 9.85915 RASEF 0 genome.wustl.edu 37 9 85611951 85611951 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 85611951 85611951 T C SNP RASEF ENST00000376447 human ensembl 74_37 -1 known missense c.1896 p.I632M 0.820 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,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_Vinculin/catenin,smart_EF_hand_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,pfscan_EF_hand_dom,tigrfam_Small_GTP-bd_dom - no_errors RASEF HGNC ENSG00000165105 59 0 0 26 18 40.9091 GOLM1 0 genome.wustl.edu 37 9 88692475 88692475 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 88692475 88692475 C T SNP GOLM1 ENST00000388711 human ensembl 74_37 -1 known missense c.161 p.R54H 1.000 NULL NULL - no_errors GOLM1 HGNC ENSG00000135052 145 1 0.684932 66 44 40 SPATA31C1 0 genome.wustl.edu 37 9 90535893 90535893 + RNA SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 90535893 90535893 C T SNP SPATA31C1 ENST00000602681 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors SPATA31C1 HGNC ENSG00000230246 425 0 0 216 91 29.6417 WNK2 0 genome.wustl.edu 37 9 96030326 96030326 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 96030326 96030326 G A SNP WNK2 ENST00000297954 human ensembl 74_37 +1 known missense c.3892 p.A1298T 0.972 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors WNK2 HGNC ENSG00000165238 23 0 0 11 8 42.1053 ZNF169 0 genome.wustl.edu 37 9 97062526 97062526 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 97062526 97062526 G A SNP ZNF169 ENST00000395395 human ensembl 74_37 +1 known missense c.686 p.S229N 0.001 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF169 HGNC ENSG00000175787 67 0 0 40 21 34.4262 FBP2 0 genome.wustl.edu 37 9 97346939 97346939 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 97346939 97346939 C T SNP FBP2 ENST00000375337 human ensembl 74_37 -1 known missense c.346 p.V116I 1.000 pfam_FBPase_class-1/SBPase,pfam_Inositol_monophosphatase pfam_FBPase_class-1/SBPase,pfam_Inositol_monophosphatase,prints_FBPtase,prints_SBPase - no_errors FBP2 HGNC ENSG00000130957 57 0 0 44 4 8.33333 PTCH1 0 genome.wustl.edu 37 9 98231260 98231260 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 98231260 98231260 A G SNP PTCH1 ENST00000331920 human ensembl 74_37 -1 known missense c.2023 p.Y675H 1.000 pfam_Patched,tigrfam_TM_rcpt_patched pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched - no_errors PTCH1 HGNC ENSG00000185920 138 0 0 85 46 35.1145 CSTF2 0 genome.wustl.edu 37 X 100077249 100077249 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 100077249 100077249 C T SNP CSTF2 ENST00000415585 human ensembl 74_37 +1 known silent c.147 p.Y49 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CSTF2 HGNC ENSG00000101811 51 0 0 20 19 48.7179 XKRX 0 genome.wustl.edu 37 X 100183088 100183088 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 100183088 100183088 T C SNP XKRX ENST00000328526 human ensembl 74_37 -1 known missense c.245 p.Y82C 0.999 pfam_Transport_prot_XK pfam_Transport_prot_XK - no_errors XKRX HGNC ENSG00000182489 158 0 0 52 47 47.4747 BTK 0 genome.wustl.edu 37 X 100613407 100613407 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 100613407 100613407 T C SNP BTK ENST00000308731 human ensembl 74_37 -1 known missense c.993 p.I331M 0.993 pfam_SH2,smart_SH2,pfscan_SH2 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_Znf_Btk_motif,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_Znf_Btk_motif,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Znf_Btk_motif,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,prints_SH2,prints_Znf_Btk_motif - no_errors BTK HGNC ENSG00000010671 190 1 0.52356 68 54 44.2623 GLA 0 genome.wustl.edu 37 X 100653081 100653081 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 100653081 100653081 T C SNP GLA ENST00000218516 human ensembl 74_37 -1 known missense c.1006 p.N336D 0.000 NULL pfam_Glyco_hydro_GHD,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_27 - no_errors GLA HGNC ENSG00000102393 92 0 0 38 25 39.6825 GPRASP1 0 genome.wustl.edu 37 X 101911431 101911431 + Missense_Mutation SNP T T A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 101911431 101911431 T A SNP GPRASP1 ENST00000361600 human ensembl 74_37 +1 known missense c.2590 p.S864T 0.014 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold - no_errors GPRASP1 HGNC ENSG00000198932 160 1 0.621118 80 88 52.381 RAB40A 0 genome.wustl.edu 37 X 102755236 102755236 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 102755236 102755236 A G SNP RAB40A ENST00000304236 human ensembl 74_37 -1 known missense c.449 p.V150A 1.000 pfam_Small_GTPase,superfamily_P-loop_NTPase,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_SOCS_C,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,smart_SOCS_C,prints_Small_GTPase,pfscan_SOCS_C,tigrfam_Small_GTP-bd_dom - no_errors RAB40A HGNC ENSG00000172476 121 0 0 65 34 34.3434 IL1RAPL2 0 genome.wustl.edu 37 X 104512145 104512145 + Silent SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 104512145 104512145 A G SNP IL1RAPL2 ENST00000344799 human ensembl 74_37 +1 known silent c.618 p.E206 0.996 smart_Ig_sub,pfscan_Ig-like_dom pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like_dom,prints_IL-1_rcpt_II-typ - no_errors IL1RAPL2 HGNC ENSG00000189108 68 0 0 28 18 39.1304 FRMPD3 0 genome.wustl.edu 37 X 106845523 106845523 + Silent SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 106845523 106845523 G T SNP FRMPD3 ENST00000276185 human ensembl 74_37 +1 known silent c.4353 p.L1451 0.995 NULL pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ - no_errors FRMPD3 HGNC ENSG00000147234 86 0 0 41 25 37.8788 ALG13 0 genome.wustl.edu 37 X 110951411 110951411 + Silent SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 110951411 110951411 T C SNP ALG13 ENST00000251943 human ensembl 74_37 +1 known silent c.228 p.P76 0.037 NULL pfam_OTU,pfscan_OTU,pfscan_Tudor - no_errors ALG13 HGNC ENSG00000101901 91 0 0 38 31 44.9275 TRPC5 0 genome.wustl.edu 37 X 111078168 111078168 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 111078168 111078168 T C SNP TRPC5 ENST00000262839 human ensembl 74_37 -1 known missense c.1877 p.N626S 1.000 prints_TRPC_channel,tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC5_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC5 HGNC ENSG00000072315 289 0 0 189 16 7.80488 HTR2C 0 genome.wustl.edu 37 X 114141413 114141413 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 114141413 114141413 C T SNP HTR2C ENST00000276198 human ensembl 74_37 +1 known missense c.812 p.T271M 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT2C_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt - no_errors HTR2C HGNC ENSG00000147246 241 0 0 145 93 39.0756 ENSG00000228532 0 genome.wustl.edu 37 X 114953402 114953402 + Nonsense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 114953402 114953402 G A SNP ENSG00000228532 ENST00000449327 human ensembl 74_37 -1 novel nonsense c.148 p.R50* 0.673 pfam_Rad60/SUMO_like,pfam_Ubiquitin_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup pfam_Rad60/SUMO_like,pfam_Ubiquitin_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup - no_errors RP1-241P17.4 Clone_based_vega_gene ENSG00000228532 103 0 0 94 5 5.05051 MSL3 0 genome.wustl.edu 37 X 11778981 11778981 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 11778981 11778981 C T SNP MSL3 ENST00000312196 human ensembl 74_37 +1 known missense c.307 p.R103C 1.000 superfamily_Chromodomain-like pfam_MRG_dom,pfam_Tudor-knot,superfamily_Chromodomain-like,smart_Chromo_domain/shadow - no_errors MSL3 HGNC ENSG00000005302 29 0 0 11 4 26.6667 ZCCHC12 0 genome.wustl.edu 37 X 117959764 117959764 + Missense_Mutation SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 117959764 117959764 G T SNP ZCCHC12 ENST00000310164 human ensembl 74_37 +1 known missense c.557 p.R186M 0.425 NULL superfamily_Znf_CCHC - no_errors ZCCHC12 HGNC ENSG00000174460 184 0 0 76 47 38.2114 SEPT6 0 genome.wustl.edu 37 X 118763453 118763453 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 118763453 118763453 G A SNP SEPT6 ENST00000394617 human ensembl 74_37 -1 known missense c.1198 p.R400C 1.000 pirsf_Septin pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase,pirsf_Septin - no_errors SEPT6 HGNC ENSG00000125354 124 0 0 68 33 32.6733 TMEM255A 0 genome.wustl.edu 37 X 119394855 119394855 + Missense_Mutation SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 119394855 119394855 G T SNP TMEM255A ENST00000309720 human ensembl 74_37 -1 known missense c.920 p.P307H 1.000 NULL NULL - no_errors TMEM255A HGNC ENSG00000125355 79 0 0 30 31 50.8197 CUL4B 0 genome.wustl.edu 37 X 119674406 119674406 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 119674406 119674406 G A SNP CUL4B ENST00000404115 human ensembl 74_37 -1 known silent c.1509 p.S503 1.000 pfam_Cullin_N,superfamily_Cullin_repeat-like_dom pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL4B HGNC ENSG00000158290 38 0 0 21 8 27.5862 GRIA3 0 genome.wustl.edu 37 X 122551644 122551644 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 122551644 122551644 C T SNP GRIA3 ENST00000541091 human ensembl 74_37 +1 known missense c.1844 p.A615V 0.075 smart_Iontro_glu_rcpt pfam_ANF_lig-bd_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd - no_errors GRIA3 HGNC ENSG00000125675 109 1 0.909091 38 25 39.6825 THOC2 0 genome.wustl.edu 37 X 122755187 122755187 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 122755187 122755187 A G SNP THOC2 ENST00000245838 human ensembl 74_37 -1 known missense c.4037 p.V1346A 0.111 NULL pfam_THO_THOC2_C,pfam_THO_THOC2_N - no_errors THOC2 HGNC ENSG00000125676 146 0 0 46 41 47.1264 TENM1 0 genome.wustl.edu 37 X 123805641 123805641 + Nonsense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 123805641 123805641 C A SNP TENM1 ENST00000422452 human ensembl 74_37 -1 known nonsense c.1060 p.G354* 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD - no_errors TENM1 HGNC ENSG00000009694 223 0 0 100 46 31.5068 ELF4 0 genome.wustl.edu 37 X 129203502 129203502 + Silent SNP A A C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 129203502 129203502 A C SNP ELF4 ENST00000308167 human ensembl 74_37 -1 known silent c.960 p.S320 0.115 NULL pfam_TF_Elf_N,pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ELF4 HGNC ENSG00000102034 173 1 0.574713 90 60 40 TLR8 0 genome.wustl.edu 37 X 12937486 12937486 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 12937486 12937486 A G SNP TLR8 ENST00000218032 human ensembl 74_37 +1 known missense c.327 p.I109M 0.000 NULL pfam_Leu-rich_rpt,pfam_TIR_dom,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR8 HGNC ENSG00000101916 198 1 0.502513 117 84 41.791 ENSG00000229702 0 genome.wustl.edu 37 X 129629169 129629169 + RNA SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 129629169 129629169 C T SNP ENSG00000229702 ENST00000458525 human ensembl 74_37 -1 known rna NULL NULL 0.754 - - - no_errors RP1-274L7.1 Clone_based_vega_gene ENSG00000229702 91 0 0 33 25 43.1034 IGSF1 0 genome.wustl.edu 37 X 130409637 130409637 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 130409637 130409637 T C SNP IGSF1 ENST00000370903 human ensembl 74_37 -1 known missense c.3014 p.Y1005C 0.973 smart_Ig_sub,smart_Ig_sub2 pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors IGSF1 HGNC ENSG00000147255 160 0 0 71 46 39.3162 HS6ST2 0 genome.wustl.edu 37 X 132090883 132090883 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 132090883 132090883 C T SNP HS6ST2 ENST00000521489 human ensembl 74_37 -1 known silent c.900 p.V300 1.000 pfam_Sulfotransferase,superfamily_P-loop_NTPase pfam_Sulfotransferase,superfamily_P-loop_NTPase - no_errors HS6ST2 HGNC ENSG00000171004 9 0 0 5 3 37.5 HS6ST2 0 genome.wustl.edu 37 X 132090966 132090966 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 132090966 132090966 G A SNP HS6ST2 ENST00000521489 human ensembl 74_37 -1 known missense c.817 p.R273W 0.999 pfam_Sulfotransferase,superfamily_P-loop_NTPase pfam_Sulfotransferase,superfamily_P-loop_NTPase - no_errors HS6ST2 HGNC ENSG00000171004 17 0 0 13 8 38.0952 USP26 0 genome.wustl.edu 37 X 132161217 132161217 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 132161217 132161217 C T SNP USP26 ENST00000370832 human ensembl 74_37 -1 known silent c.1032 p.R344 0.001 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP26 HGNC ENSG00000134588 109 0 0 32 26 44.8276 SAGE1 0 genome.wustl.edu 37 X 134990644 134990644 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 134990644 134990644 G A SNP SAGE1 ENST00000324447 human ensembl 74_37 +1 known missense c.1309 p.V437I 0.001 NULL NULL - no_errors SAGE1 HGNC ENSG00000181433 185 0 0 77 38 33.0435 SLC9A6 0 genome.wustl.edu 37 X 135067951 135067951 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 135067951 135067951 G A SNP SLC9A6 ENST00000370695 human ensembl 74_37 +1 known missense c.290 p.R97H 1.000 pfam_Cation/H_exchanger,prints_Na/H_exchanger_6 pfam_Cation/H_exchanger,prints_Na/H_exchanger_6,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A6 HGNC ENSG00000198689 209 1 0.47619 147 100 40.4858 FHL1 0 genome.wustl.edu 37 X 135291440 135291440 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 135291440 135291440 A G SNP FHL1 ENST00000345434 human ensembl 74_37 +1 known missense c.727 p.K243E 1.000 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors FHL1 HGNC ENSG00000022267 72 0 0 40 25 38.4615 MAP7D3 0 genome.wustl.edu 37 X 135301782 135301782 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 135301782 135301782 C T SNP MAP7D3 ENST00000370663 human ensembl 74_37 -1 known silent c.2481 p.A827 0.000 NULL pfam_MAP7 - no_errors MAP7D3 HGNC ENSG00000129680 191 0 0 67 31 31.6327 GPR112 0 genome.wustl.edu 37 X 135429336 135429336 + Silent SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 135429336 135429336 C A SNP GPR112 ENST00000370652 human ensembl 74_37 +1 known silent c.3471 p.S1157 0.085 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 204 0 0 106 68 39.0805 ZIC3 0 genome.wustl.edu 37 X 136649419 136649419 + Missense_Mutation SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 136649419 136649419 G T SNP ZIC3 ENST00000287538 human ensembl 74_37 +1 known missense c.569 p.G190V 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZIC3 HGNC ENSG00000156925 94 0 0 80 20 20 FGF13 0 genome.wustl.edu 37 X 137793157 137793157 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 137793157 137793157 C T SNP FGF13 ENST00000315930 human ensembl 74_37 -1 known silent c.9 p.A3 1.000 NULL pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam,prints_Fibroblast_GF_fam - no_errors FGF13 HGNC ENSG00000129682 86 0 0 82 5 5.74713 F9 0 genome.wustl.edu 37 X 138644209 138644209 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 138644209 138644209 G A SNP F9 ENST00000218099 human ensembl 74_37 +1 known silent c.1365 p.K455 0.701 superfamily_Trypsin-like_Pept_dom,pirsf_Pept_S1A_FX,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_GLA_domain,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Peptidase_S1,pirsf_Pept_S1A_FX,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Peptidase_S1,prints_Peptidase_S1A,prints_GLA_domain - no_errors F9 HGNC ENSG00000101981 66 0 0 45 4 8.16327 ATP11C 0 genome.wustl.edu 37 X 138882248 138882248 + Silent SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 138882248 138882248 G T SNP ATP11C ENST00000327569 human ensembl 74_37 -1 known silent c.690 p.I230 0.998 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP11C HGNC ENSG00000101974 79 0 0 51 20 28.169 AFF2 0 genome.wustl.edu 37 X 147733536 147733536 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 147733536 147733536 C T SNP AFF2 ENST00000370460 human ensembl 74_37 +1 known missense c.64 p.R22C 1.000 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF2 HGNC ENSG00000155966 219 0 0 112 52 31.7073 AFF2 0 genome.wustl.edu 37 X 147744087 147744087 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 147744087 147744087 T C SNP AFF2 ENST00000370460 human ensembl 74_37 +1 known missense c.839 p.M280T 1.000 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF2 HGNC ENSG00000155966 187 0 0 88 55 38.4615 AFF2 0 genome.wustl.edu 37 X 147967422 147967422 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 147967422 147967422 G A SNP AFF2 ENST00000370460 human ensembl 74_37 +1 known missense c.1266 p.M422I 1.000 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF2 HGNC ENSG00000155966 373 0 0 329 24 6.79887 MTM1 0 genome.wustl.edu 37 X 149818188 149818188 + Splice_Site SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 149818188 149818188 G A SNP MTM1 ENST00000370396 human ensembl 74_37 +1 known splice_site c.868-1 e9-1 1.000 - - - no_errors MTM1 HGNC ENSG00000171100 89 0 0 40 29 42.029 MTMR1 0 genome.wustl.edu 37 X 149905188 149905188 + Missense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 149905188 149905188 C A SNP MTMR1 ENST00000445323 human ensembl 74_37 +1 known missense c.1202 p.P401H 1.000 smart_Tyr_Pase_cat pfam_Myotubularin-like_Pase_dom,pfam_GRAM,smart_GRAM,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase - no_errors MTMR1 HGNC ENSG00000063601 72 0 0 36 27 42.8571 MTMR1 0 genome.wustl.edu 37 X 149912872 149912872 + Nonsense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 149912872 149912872 C T SNP MTMR1 ENST00000445323 human ensembl 74_37 +1 known nonsense c.1513 p.R505* 1.000 smart_Tyr_Pase_cat pfam_Myotubularin-like_Pase_dom,pfam_GRAM,smart_GRAM,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase - no_errors MTMR1 HGNC ENSG00000063601 152 1 0.653595 63 43 40.566 GABRE 0 genome.wustl.edu 37 X 151138815 151138815 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 151138815 151138815 C T SNP GABRE ENST00000370328 human ensembl 74_37 -1 known missense c.116 p.G39D 0.006 NULL pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAe_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRE HGNC ENSG00000102287 219 0 0 92 69 42.8571 ENSG00000266560 0 genome.wustl.edu 37 X 151283626 151283626 + RNA SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 151283626 151283626 C T SNP ENSG00000266560 ENST00000509345 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-1007I13.4 Clone_based_vega_gene ENSG00000266560 201 0 0 91 62 40.5229 GABRA3 0 genome.wustl.edu 37 X 151358315 151358315 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 151358315 151358315 C T SNP GABRA3 ENST00000370314 human ensembl 74_37 -1 known missense c.1030 p.V344I 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABBAa3_rcpt,prints_GABAA_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRA3 HGNC ENSG00000011677 76 0 0 46 17 26.9841 MAGEA12 0 genome.wustl.edu 37 X 151900066 151900066 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 151900066 151900066 C T SNP MAGEA12 ENST00000357916 human ensembl 74_37 -1 known silent c.735 p.L245 0.007 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEA12 HGNC ENSG00000213401 292 0 0 154 66 30 PNMA3 0 genome.wustl.edu 37 X 152226190 152226190 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 152226190 152226190 G A SNP PNMA3 ENST00000370264 human ensembl 74_37 +1 known missense c.778 p.A260T 0.001 NULL superfamily_Znf_CCHC,pfscan_Znf_CCHC - no_errors PNMA3 HGNC ENSG00000183837 199 0 0 78 76 49.3506 ATP2B3 0 genome.wustl.edu 37 X 152807870 152807870 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 152807870 152807870 C T SNP ATP2B3 ENST00000263519 human ensembl 74_37 +1 known missense c.754 p.R252C 1.000 pfam_ATPase_P-typ_transduc_dom_A,prints_Cation_transp_P_typ_ATPase,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2B3 HGNC ENSG00000067842 63 0 0 52 28 35 ATP2B3 0 genome.wustl.edu 37 X 152845526 152845526 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 152845526 152845526 C T SNP ATP2B3 ENST00000263519 human ensembl 74_37 +1 known missense c.3433 p.P1145S 1.000 pfam_ATP_Ca_trans_C pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2B3 HGNC ENSG00000067842 292 0 0 290 23 7.34824 PNCK 0 genome.wustl.edu 37 X 152938067 152938067 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 152938067 152938067 G A SNP PNCK ENST00000447676 human ensembl 74_37 -1 known missense c.403 p.R135W 0.387 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 PNCK HGNC ENSG00000130822 113 0 0 61 57 48.3051 BCAP31 0 genome.wustl.edu 37 X 152986489 152986489 + RNA SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 152986489 152986489 C A SNP BCAP31 ENST00000468947 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors BCAP31 HGNC ENSG00000185825 29 0 0 16 8 33.3333 PDZD4 0 genome.wustl.edu 37 X 153069711 153069711 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 153069711 153069711 G A SNP PDZD4 ENST00000164640 human ensembl 74_37 -1 known silent c.1407 p.S469 0.978 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD4 HGNC ENSG00000067840 43 0 0 34 16 32 L1CAM 0 genome.wustl.edu 37 X 153130378 153130378 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 153130378 153130378 C T SNP L1CAM ENST00000543994 human ensembl 74_37 -1 known missense c.2950 p.D984N 0.922 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_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 235 0 0 186 53 22.1757 MECP2 0 genome.wustl.edu 37 X 153297719 153297719 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 153297719 153297719 G A SNP MECP2 ENST00000303391 human ensembl 74_37 -1 known missense c.316 p.R106W 0.972 pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pirsf_Me_CpG-bd_MeCP2,pfscan_Methyl_CpG_DNA-bd pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,superfamily_Ig_E-set,smart_Methyl_CpG_DNA-bd,pirsf_Me_CpG-bd_MeCP2,pfscan_Methyl_CpG_DNA-bd - no_errors MECP2 HGNC ENSG00000169057 176 0 0 83 64 43.5374 OPN1LW 0 genome.wustl.edu 37 X 153416216 153416216 + Silent SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 153416216 153416216 C A SNP OPN1LW ENST00000369951 human ensembl 74_37 +1 known silent c.201 p.S67 0.001 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_Opsin_red/grn,prints_GPCR_Rhodpsn,prints_Opsin - no_errors OPN1LW HGNC ENSG00000102076 296 0 0 149 49 24.7475 PIGA 0 genome.wustl.edu 37 X 15349522 15349522 + Silent SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 15349522 15349522 A G SNP PIGA ENST00000333590 human ensembl 74_37 -1 known silent c.531 p.D177 1.000 NULL pfam_PIGA_GPI_anchor_biosynthesis,pfam_Glyco_trans_1 - no_errors PIGA HGNC ENSG00000165195 109 0 0 31 22 41.5094 TKTL1 0 genome.wustl.edu 37 X 153556271 153556271 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 153556271 153556271 C T SNP TKTL1 ENST00000369915 human ensembl 74_37 +1 known missense c.1585 p.R529W 0.468 pfam_Transketolase_C,superfamily_Transketo_C/Pyr-ferredox_oxred pfam_Transketolase_N,pfam_Transketolase-like_Pyr-bd,pfam_Transketolase_C,pfam_DH_E1,superfamily_Transketo_C/Pyr-ferredox_oxred,smart_Transketolase-like_Pyr-bd - no_errors TKTL1 HGNC ENSG00000007350 271 0 0 117 92 44.0191 FLNA 0 genome.wustl.edu 37 X 153581805 153581805 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 153581805 153581805 A G SNP FLNA ENST00000369850 human ensembl 74_37 -1 known missense c.5881 p.S1961P 1.000 superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNA HGNC ENSG00000196924 114 0 0 62 45 42.0561 FLNA 0 genome.wustl.edu 37 X 153595185 153595185 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 153595185 153595185 C T SNP FLNA ENST00000369850 human ensembl 74_37 -1 known missense c.902 p.R301Q 0.999 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNA HGNC ENSG00000196924 132 0 0 89 6 6.31579 PLXNA3 0 genome.wustl.edu 37 X 153690582 153690582 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 153690582 153690582 G A SNP PLXNA3 ENST00000369682 human ensembl 74_37 +1 known missense c.1249 p.V417M 1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA3 HGNC ENSG00000130827 123 0 0 61 40 39.604 ASMTL 0 genome.wustl.edu 37 X 1537918 1537918 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 1537918 1537918 C T SNP ASMTL ENST00000381317 human ensembl 74_37 -1 known silent c.1335 p.T445 0.989 pfam_O_MeTrfase_2 pfam_Maf,pfam_O_MeTrfase_2,tigrfam_Maf - no_errors ASMTL HGNC ENSG00000169093 32 0 0 18 8 30.7692 F8 0 genome.wustl.edu 37 X 154133272 154133272 + Silent SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 154133272 154133272 A G SNP F8 ENST00000360256 human ensembl 74_37 -1 known silent c.5400 p.R1800 1.000 superfamily_Cupredoxin pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors F8 HGNC ENSG00000185010 95 0 0 35 30 46.1538 P2RY8 0 genome.wustl.edu 37 X 1585129 1585129 + Missense_Mutation SNP T T A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 1585129 1585129 T A SNP P2RY8 ENST00000381297 human ensembl 74_37 -1 known missense c.323 p.Y108F 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Protea_act_rcpt - no_errors P2RY8 HGNC ENSG00000182162 37 0 0 26 20 43.4783 RBBP7 0 genome.wustl.edu 37 X 16870947 16870947 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 16870947 16870947 C T SNP RBBP7 ENST00000380087 human ensembl 74_37 -1 known silent c.810 p.A270 0.011 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_Histone-bd_RBBP4_N,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors RBBP7 HGNC ENSG00000102054 217 0 0 150 79 34.4978 AKAP17A 0 genome.wustl.edu 37 X 1713017 1713017 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 1713017 1713017 A G SNP AKAP17A ENST00000313871 human ensembl 74_37 +1 known missense c.662 p.Y221C 0.935 NULL NULL - no_errors AKAP17A HGNC ENSG00000197976 131 0 0 71 41 36.6071 NHS 0 genome.wustl.edu 37 X 17743968 17743968 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 17743968 17743968 G A SNP NHS ENST00000380060 human ensembl 74_37 +1 known missense c.1679 p.R560K 1.000 NULL NULL - no_errors NHS HGNC ENSG00000188158 125 0 0 56 46 45.098 NHS 0 genome.wustl.edu 37 X 17744389 17744389 + Silent SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 17744389 17744389 T C SNP NHS ENST00000380060 human ensembl 74_37 +1 known silent c.2100 p.S700 0.243 NULL NULL - no_errors NHS HGNC ENSG00000188158 249 0 0 136 98 41.8803 MBTPS2 0 genome.wustl.edu 37 X 21871621 21871621 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 21871621 21871621 G A SNP MBTPS2 ENST00000379484 human ensembl 74_37 +1 known missense c.670 p.G224S 1.000 pfam_Peptidase_M50,superfamily_PDZ pfam_Peptidase_M50,superfamily_PDZ,prints_MBTPS2 - no_errors MBTPS2 HGNC ENSG00000012174 156 0 0 62 37 37.3737 DDX53 0 genome.wustl.edu 37 X 23018420 23018420 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 23018420 23018420 A G SNP DDX53 ENST00000327968 human ensembl 74_37 +1 known missense c.246 p.I82M 0.007 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_KH_dom_type_1,superfamily_P-loop_NTPase,smart_KH_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_KH_dom_type_1,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX53 HGNC ENSG00000184735 131 0 0 73 56 43.4109 PTCHD1 0 genome.wustl.edu 37 X 23411871 23411871 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 23411871 23411871 A G SNP PTCHD1 ENST00000379361 human ensembl 74_37 +1 known missense c.2236 p.K746E 1.000 pfam_Patched pfam_Patched,pfscan_SSD - no_errors PTCHD1 HGNC ENSG00000165186 121 0 0 44 31 41.3333 ZBED1 0 genome.wustl.edu 37 X 2407120 2407120 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 2407120 2407120 C T SNP ZBED1 ENST00000381218 human ensembl 74_37 -1 known missense c.1641 p.M547I 1.000 superfamily_RNaseH-like_dom pfam_HATC_dom_C,pfam_Znf_BED_prd,superfamily_RNaseH-like_dom,smart_Znf_BED_prd,pfscan_Znf_BED_prd - no_errors ZBED1 HGNC ENSG00000214717 72 0 0 54 12 18.1818 ARX 0 genome.wustl.edu 37 X 25033798 25033798 + Silent SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 25033798 25033798 T C SNP ARX ENST00000379044 human ensembl 74_37 -1 known silent c.57 p.K19 1.000 NULL pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_OAR_dom,pfscan_Homeobox_dom,prints_Antifreeze_1 - no_errors ARX HGNC ENSG00000004848 15 0 0 19 7 26.9231 PPP2R3B 0 genome.wustl.edu 37 X 299352 299352 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 299352 299352 G A SNP PPP2R3B ENST00000390665 human ensembl 74_37 -1 known missense c.1564 p.P522S 0.998 NULL pfscan_EF_hand_dom - no_errors PPP2R3B HGNC ENSG00000167393 29 0 0 32 16 33.3333 DMD 0 genome.wustl.edu 37 X 32490321 32490321 + Missense_Mutation SNP G G T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 32490321 32490321 G T SNP DMD ENST00000357033 human ensembl 74_37 -1 known missense c.2909 p.T970N 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 147 0 0 59 37 38.5417 FAM47B 0 genome.wustl.edu 37 X 34961384 34961384 + Missense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 34961384 34961384 C A SNP FAM47B ENST00000329357 human ensembl 74_37 +1 known missense c.436 p.L146I 0.028 NULL NULL - no_errors FAM47B HGNC ENSG00000189132 96 0 0 46 38 45.2381 FAM47B 0 genome.wustl.edu 37 X 34961421 34961421 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 34961421 34961421 A G SNP FAM47B ENST00000329357 human ensembl 74_37 +1 known missense c.473 p.K158R 0.808 NULL NULL - no_errors FAM47B HGNC ENSG00000189132 76 0 0 39 17 30.3571 FAM47B 0 genome.wustl.edu 37 X 34961700 34961700 + Missense_Mutation SNP C C A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 34961700 34961700 C A SNP FAM47B ENST00000329357 human ensembl 74_37 +1 known missense c.752 p.P251H 0.618 NULL NULL - no_errors FAM47B HGNC ENSG00000189132 165 0 0 89 74 45.3988 FAM47B 0 genome.wustl.edu 37 X 34962108 34962108 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 34962108 34962108 C T SNP FAM47B ENST00000329357 human ensembl 74_37 +1 known missense c.1160 p.P387L 0.001 NULL NULL - no_errors FAM47B HGNC ENSG00000189132 83 0 0 38 21 35.5932 RPGR 0 genome.wustl.edu 37 X 38129019 38129019 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 38129019 38129019 G A SNP RPGR ENST00000339363 human ensembl 74_37 -1 known missense c.2923 p.P975S 0.004 superfamily_RCC1/BLIP-II pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors RPGR HGNC ENSG00000156313 73 0 0 25 16 39.0244 BCOR 0 genome.wustl.edu 37 X 39934412 39934412 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 39934412 39934412 T C SNP BCOR ENST00000378444 human ensembl 74_37 -1 known missense c.187 p.R63G 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors BCOR HGNC ENSG00000183337 37 0 0 18 11 37.931 DDX3X 0 genome.wustl.edu 37 X 41205842 41205842 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 41205842 41205842 C T SNP DDX3X ENST00000399959 human ensembl 74_37 +1 known missense c.1582 p.R528C 1.000 pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,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 DDX3X HGNC ENSG00000215301 167 0 0 89 9 9.18367 NYX 0 genome.wustl.edu 37 X 41333774 41333774 + Silent SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 41333774 41333774 T C SNP NYX ENST00000342595 human ensembl 74_37 +1 known silent c.1068 p.R356 0.258 smart_Cys-rich_flank_reg_C pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors NYX HGNC ENSG00000188937 24 0 0 25 14 35.8974 NYX 0 genome.wustl.edu 37 X 41334051 41334051 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 41334051 41334051 C T SNP NYX ENST00000342595 human ensembl 74_37 +1 known missense c.1345 p.R449C 0.000 NULL pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors NYX HGNC ENSG00000188937 15 0 0 10 6 37.5 CXorf36 0 genome.wustl.edu 37 X 45059991 45059991 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 45059991 45059991 G A SNP CXorf36 ENST00000398000 human ensembl 74_37 -1 known silent c.81 p.S27 0.957 NULL NULL - no_errors CXorf36 HGNC ENSG00000147113 40 0 0 17 3 15 RP2 0 genome.wustl.edu 37 X 46712975 46712975 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 46712975 46712975 C T SNP RP2 ENST00000218340 human ensembl 74_37 +1 known missense c.167 p.T56M 0.587 superfamily_Adenylate_cyclase-assoc_CAP_C,pirsf_Protein_XRP2 pfam_Tubulin-bd_cofactor_C_dom,superfamily_Nucleoside_diP_kinase,superfamily_Adenylate_cyclase-assoc_CAP_C,smart_CARP_motif,pirsf_Protein_XRP2 - no_errors RP2 HGNC ENSG00000102218 160 0 0 52 41 44.086 ZNF157 0 genome.wustl.edu 37 X 47271825 47271825 + Missense_Mutation SNP A A T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 47271825 47271825 A T SNP ZNF157 ENST00000377073 human ensembl 74_37 +1 known missense c.353 p.D118V 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF157 HGNC ENSG00000147117 95 0 0 32 36 52.9412 ARAF 0 genome.wustl.edu 37 X 47426492 47426492 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 47426492 47426492 C T SNP ARAF ENST00000377045 human ensembl 74_37 +1 known missense c.835 p.R279C 0.969 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd - no_errors ARAF HGNC ENSG00000078061 61 0 0 43 26 37.6812 CFP 0 genome.wustl.edu 37 X 47486574 47486574 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 47486574 47486574 C T SNP CFP ENST00000247153 human ensembl 74_37 -1 known silent c.732 p.E244 0.061 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors CFP HGNC ENSG00000126759 34 0 0 22 14 38.8889 ZNF81 0 genome.wustl.edu 37 X 47775788 47775788 + Silent SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 47775788 47775788 T C SNP ZNF81 ENST00000338637 human ensembl 74_37 +1 known silent c.1743 p.P581 0.999 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF81 HGNC ENSG00000197779 75 0 0 39 7 15.2174 PORCN 0 genome.wustl.edu 37 X 48372714 48372714 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 48372714 48372714 C T SNP PORCN ENST00000326194 human ensembl 74_37 +1 known missense c.806 p.A269V 1.000 pfam_MBOAT_fam pfam_MBOAT_fam - no_errors PORCN HGNC ENSG00000102312 60 0 0 24 29 54.717 PQBP1 0 genome.wustl.edu 37 X 48758490 48758490 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 48758490 48758490 G A SNP PQBP1 ENST00000218224 human ensembl 74_37 +1 known missense c.91 p.E31K 1.000 NULL pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom - no_errors PQBP1 HGNC ENSG00000102103 35 0 0 10 5 33.3333 SLC35A2 0 genome.wustl.edu 37 X 48762402 48762402 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 48762402 48762402 C T SNP SLC35A2 ENST00000452555 human ensembl 74_37 -1 known missense c.868 p.G290S 1.000 pfam_Nuc_sug_transpt,pfam_UAA,pirsf_UDP/CMP-sugar_transptr,tigrfam_UDPgal_transpt pfam_Nuc_sug_transpt,pfam_UAA,pfam_DMT,pirsf_UDP/CMP-sugar_transptr,tigrfam_UDPgal_transpt - no_errors SLC35A2 HGNC ENSG00000102100 28 0 0 26 5 16.129 TFE3 0 genome.wustl.edu 37 X 48891041 48891041 + Nonsense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 48891041 48891041 G A SNP TFE3 ENST00000315869 human ensembl 74_37 -1 known nonsense c.1075 p.R359* 1.000 pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom pfam_bHLH_ZIP_TF_MiT/TFE,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors TFE3 HGNC ENSG00000068323 64 0 0 36 19 34.5455 CCDC120 0 genome.wustl.edu 37 X 48921421 48921421 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 48921421 48921421 C T SNP CCDC120 ENST00000603986 human ensembl 74_37 +1 known silent c.318 p.C106 1.000 pfam_DUF3338 pfam_DUF3338 - no_errors CCDC120 HGNC ENSG00000147144 51 0 0 22 23 51.1111 PRICKLE3 0 genome.wustl.edu 37 X 49034431 49034431 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 49034431 49034431 C T SNP PRICKLE3 ENST00000376317 human ensembl 74_37 -1 known missense c.866 p.R289H 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors PRICKLE3 HGNC ENSG00000012211 69 0 0 46 20 30.303 PRICKLE3 0 genome.wustl.edu 37 X 49036124 49036124 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 49036124 49036124 T C SNP PRICKLE3 ENST00000376317 human ensembl 74_37 -1 known missense c.344 p.D115G 1.000 pfam_PET_domain pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors PRICKLE3 HGNC ENSG00000012211 14 0 0 8 6 42.8571 SYP 0 genome.wustl.edu 37 X 49050714 49050714 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 49050714 49050714 G A SNP SYP ENST00000263233 human ensembl 74_37 -1 known missense c.332 p.A111V 0.992 pfam_Marvel,prints_Synaptophysin/porin pfam_Marvel,prints_Synaptophysin/porin - no_errors SYP HGNC ENSG00000102003 83 0 0 90 5 5.26316 MAGED1 0 genome.wustl.edu 37 X 51640423 51640423 + RNA SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 51640423 51640423 G A SNP MAGED1 ENST00000494718 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors MAGED1 HGNC ENSG00000179222 57 0 0 33 30 47.619 TSPYL2 0 genome.wustl.edu 37 X 53112245 53112245 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 53112245 53112245 C T SNP TSPYL2 ENST00000375442 human ensembl 74_37 +1 known missense c.565 p.R189W 0.013 NULL pfam_NAP_family - no_errors TSPYL2 HGNC ENSG00000184205 30 0 0 21 5 19.2308 KDM5C 0 genome.wustl.edu 37 X 53245079 53245079 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 53245079 53245079 C T SNP KDM5C ENST00000375401 human ensembl 74_37 -1 known silent c.861 p.S287 0.245 NULL pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_Znf_PHD-finger,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5C HGNC ENSG00000126012 97 0 0 47 15 24.1935 HUWE1 0 genome.wustl.edu 37 X 53574768 53574768 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 53574768 53574768 G A SNP HUWE1 ENST00000262854 human ensembl 74_37 -1 known missense c.10502 p.T3501M 0.927 NULL pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/Ts_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom - no_errors HUWE1 HGNC ENSG00000086758 22 0 0 19 8 29.6296 HUWE1 0 genome.wustl.edu 37 X 53588851 53588851 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 53588851 53588851 T C SNP HUWE1 ENST00000262854 human ensembl 74_37 -1 known missense c.7373 p.D2458G 1.000 NULL pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/Ts_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom - no_errors HUWE1 HGNC ENSG00000086758 107 0 0 41 32 43.8356 WNK3 0 genome.wustl.edu 37 X 54263764 54263764 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 54263764 54263764 A G SNP WNK3 ENST00000354646 human ensembl 74_37 -1 known missense c.4235 p.V1412A 0.002 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors WNK3 HGNC ENSG00000196632 103 0 0 33 10 23.2558 SNORA11 0 genome.wustl.edu 37 X 54840825 54840825 + RNA SNP C C G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 54840825 54840825 C G SNP SNORA11 ENST00000408789 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SNORA11 HGNC ENSG00000221716 218 0 0 60 54 47.3684 USP51 0 genome.wustl.edu 37 X 55515144 55515144 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 55515144 55515144 T C SNP USP51 ENST00000500968 human ensembl 74_37 -1 known missense c.229 p.S77G 0.975 NULL pfam_Peptidase_C19/C67,pfam_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP51 HGNC ENSG00000247746 38 0 0 20 23 53.4884 NLGN4X 0 genome.wustl.edu 37 X 5821127 5821127 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 5821127 5821127 G A SNP NLGN4X ENST00000381093 human ensembl 74_37 -1 known missense c.1652 p.A551V 1.000 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN4X HGNC ENSG00000146938 105 0 0 48 20 29.4118 NLGN4X 0 genome.wustl.edu 37 X 5821498 5821498 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 5821498 5821498 G A SNP NLGN4X ENST00000381093 human ensembl 74_37 -1 known silent c.1281 p.Y427 0.990 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN4X HGNC ENSG00000146938 48 0 0 21 12 36.3636 ZC4H2 0 genome.wustl.edu 37 X 64196330 64196330 + RNA SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 64196330 64196330 T C SNP ZC4H2 ENST00000488608 human ensembl 74_37 -1 known rna NULL NULL 0.927 - - - no_errors ZC4H2 HGNC ENSG00000126970 62 0 0 29 20 40.8163 ZC3H12B 0 genome.wustl.edu 37 X 64722733 64722733 + Nonsense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 64722733 64722733 C T SNP ZC3H12B ENST00000338957 human ensembl 74_37 +1 known nonsense c.2155 p.R719* 1.000 NULL pfam_RNase_Zc3h12 - no_errors ZC3H12B HGNC ENSG00000102053 63 0 0 38 18 32.1429 OPHN1 0 genome.wustl.edu 37 X 67272396 67272396 + Silent SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 67272396 67272396 G A SNP OPHN1 ENST00000355520 human ensembl 74_37 -1 known silent c.2361 p.S787 0.989 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors OPHN1 HGNC ENSG00000079482 25 0 0 3 7 70 P2RY4 0 genome.wustl.edu 37 X 69478840 69478840 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 69478840 69478840 G A SNP P2RY4 ENST00000374519 human ensembl 74_37 -1 known missense c.635 p.P212L 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_P2Y4_rcpt,prints_GPCR_Rhodpsn,prints_P2Y2_rcpt - no_errors P2RY4 HGNC ENSG00000186912 60 0 0 42 22 34.375 TEX11 0 genome.wustl.edu 37 X 70127625 70127625 + Silent SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 70127625 70127625 A G SNP TEX11 ENST00000374333 human ensembl 74_37 -1 known silent c.15 p.D5 0.001 NULL pfam_Meiosis_specific_SPO22,smart_TPR_repeat - no_errors TEX11 HGNC ENSG00000120498 65 0 0 26 19 42.2222 FOXO4 0 genome.wustl.edu 37 X 70320819 70320819 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 70320819 70320819 C T SNP FOXO4 ENST00000374259 human ensembl 74_37 +1 known missense c.739 p.R247C 0.321 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXO4 HGNC ENSG00000184481 33 0 0 22 18 45 FOXO4 0 genome.wustl.edu 37 X 70321313 70321313 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 70321313 70321313 C T SNP FOXO4 ENST00000374259 human ensembl 74_37 +1 known silent c.1233 p.G411 0.023 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXO4 HGNC ENSG00000184481 72 0 0 51 25 32.8947 NLGN3 0 genome.wustl.edu 37 X 70389595 70389595 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 70389595 70389595 G A SNP NLGN3 ENST00000358741 human ensembl 74_37 +1 known missense c.2195 p.R732H 1.000 NULL pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN3 HGNC ENSG00000196338 58 0 0 30 14 31.8182 NONO 0 genome.wustl.edu 37 X 70517750 70517750 + Nonsense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 70517750 70517750 C T SNP NONO ENST00000276079 human ensembl 74_37 +1 known nonsense c.1093 p.R365* 1.000 NULL pfam_RRM_dom,pfam_NOPS,smart_RRM_dom,pfscan_RRM_dom - no_errors NONO HGNC ENSG00000147140 56 0 0 25 16 39.0244 RLIM 0 genome.wustl.edu 37 X 73812036 73812036 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 73812036 73812036 G A SNP RLIM ENST00000332687 human ensembl 74_37 -1 known missense c.1114 p.R372W 0.999 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RLIM HGNC ENSG00000131263 118 0 0 39 29 42.6471 ATP7A 0 genome.wustl.edu 37 X 77266709 77266709 + Missense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 77266709 77266709 C T SNP ATP7A ENST00000341514 human ensembl 74_37 +1 known missense c.1906 p.R636W 1.000 superfamily_HeavyMe-assoc_HMA pfam_HeavyMe-assoc_HMA,pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,prints_Cation_transp_P_typ_ATPase,prints_HG_scavenger,tigrfam_Cation_transp_P-typ_ATPase_IB,tigrfam_Cation_transp_P_typ_ATPase,tigrfam_HMA_Cu_ion-bd - no_errors ATP7A HGNC ENSG00000165240 145 0 0 56 27 32.5301 ATP7A 0 genome.wustl.edu 37 X 77284891 77284891 + Nonsense_Mutation SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 77284891 77284891 C T SNP ATP7A ENST00000341514 human ensembl 74_37 +1 known nonsense c.3061 p.Q1021* 1.000 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_Cation_transp_P-typ_ATPase_IB pfam_HeavyMe-assoc_HMA,pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,prints_Cation_transp_P_typ_ATPase,prints_HG_scavenger,tigrfam_Cation_transp_P-typ_ATPase_IB,tigrfam_Cation_transp_P_typ_ATPase,tigrfam_HMA_Cu_ion-bd - no_errors ATP7A HGNC ENSG00000165240 181 0 0 82 29 26.1261 BRWD3 0 genome.wustl.edu 37 X 80001091 80001091 + Nonsense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 80001091 80001091 G A SNP BRWD3 ENST00000373275 human ensembl 74_37 -1 known nonsense c.568 p.R190* 1.000 pfam_WD40_repeat,superfamily_Quino_amine_DH_bsu,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quino_amine_DH_bsu,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors BRWD3 HGNC ENSG00000165288 37 0 0 19 14 42.4242 SH3BGRL 0 genome.wustl.edu 37 X 80457739 80457739 + Missense_Mutation SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 80457739 80457739 A G SNP SH3BGRL ENST00000373212 human ensembl 74_37 +1 known missense c.40 p.T14A 0.867 pfam_Glut_rich_SH3-bd,superfamily_Thioredoxin-like_fold pfam_Glut_rich_SH3-bd,superfamily_Thioredoxin-like_fold - no_errors SH3BGRL HGNC ENSG00000131171 38 0 0 31 5 13.8889 PABPC5 0 genome.wustl.edu 37 X 90690639 90690639 + Silent SNP C C T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 90690639 90690639 C T SNP PABPC5 ENST00000312600 human ensembl 74_37 +1 known silent c.63 p.Y21 0.939 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234 pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom,tigrfam_PABP_1234 - no_errors PABPC5 HGNC ENSG00000174740 70 0 0 29 17 36.9565 PCDH11X 0 genome.wustl.edu 37 X 91132510 91132510 + Missense_Mutation SNP T T C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 91132510 91132510 T C SNP PCDH11X ENST00000373094 human ensembl 74_37 +1 known missense c.1271 p.L424P 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH11X HGNC ENSG00000102290 205 0 0 53 54 50.4673 RPA4 0 genome.wustl.edu 37 X 96140046 96140046 + Missense_Mutation SNP G G A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 96140046 96140046 G A SNP RPA4 ENST00000373040 human ensembl 74_37 +1 known missense c.737 p.G246D 0.013 pfam_RPA_C,pirsf_RPA32 pfam_RPA_C,pfam_NA-bd_OB_tRNA,superfamily_NA-bd_OB-fold,pirsf_RPA32 - no_errors RPA4 HGNC ENSG00000204086 115 0 0 47 22 31.8841 SYTL4 0 genome.wustl.edu 37 X 99933721 99933721 + RNA SNP C C G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 99933721 99933721 C G SNP SYTL4 ENST00000491602 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors SYTL4 HGNC ENSG00000102362 17 0 0 10 4 28.5714 SYTL4 0 genome.wustl.edu 37 X 99942204 99942204 + Silent SNP A A G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 99942204 99942204 A G SNP SYTL4 ENST00000454200 human ensembl 74_37 -1 known silent c.1050 p.A350 1.000 superfamily_C2_dom pfam_C2_dom,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,smart_C2_dom,pfscan_C2_dom,pfscan_Znf_FYVE-typ,prints_Synaptotagmin - no_errors SYTL4 HGNC ENSG00000102362 96 0 0 42 43 50.5882 SASS6 0 genome.wustl.edu 37 1 100588802 100588802 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 100588802 100588802 A - DEL SASS6 ENST00000287482 human ensembl 74_37 -1 known frame_shift_del c.170 p.L57fs 1.000 NULL NULL - no_errors SASS6 HGNC ENSG00000156876 44 0 0 10 10 50 CDC14A 0 genome.wustl.edu 37 1 100889837 100889837 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 100889837 100889837 C - DEL CDC14A ENST00000361544 human ensembl 74_37 +1 known frame_shift_del c.369 p.Y126fs 0.021 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors CDC14A HGNC ENSG00000079335 139 0 0 48 26 35.1351 UBE4B 0 genome.wustl.edu 37 1 10177642 10177642 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 10177642 10177642 A - DEL UBE4B ENST00000343090 human ensembl 74_37 +1 known frame_shift_del c.1322 p.A444fs 1.000 NULL pfam_Ub_conjug_fac_E4_core,pfam_Ubox_domain,smart_Ubox_domain - no_errors UBE4B HGNC ENSG00000130939 49 0 0 23 10 30.303 COL11A1 0 genome.wustl.edu 37 1 103385868 103385868 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 103385868 103385868 T - DEL COL11A1 ENST00000358392 human ensembl 74_37 -1 known frame_shift_del c.3797 p.K1266fs 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 COL11A1 HGNC ENSG00000060718 197 0 0 109 32 22.695 NTNG1 0 genome.wustl.edu 37 1 107691083 107691083 + RNA DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 107691083 107691083 A - DEL NTNG1 ENST00000462149 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors NTNG1 HGNC ENSG00000162631 21 0 0 10 3 23.0769 AMPD2 0 genome.wustl.edu 37 1 110169810 110169810 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 110169810 110169810 C - DEL AMPD2 ENST00000256578 human ensembl 74_37 +1 known frame_shift_del c.894 p.P300fs 1.000 pirsf_AMP_deaminase,tigrfam_AMP_deaminase pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase - no_errors AMPD2 HGNC ENSG00000116337 116 0 0 68 30 30.6122 EPS8L3 0 genome.wustl.edu 37 1 110300580 110300580 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 110300580 110300580 T - DEL EPS8L3 ENST00000369805 human ensembl 74_37 -1 known frame_shift_del c.821 p.N274fs 0.352 NULL pfam_PTB,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_SAM/pointed,smart_SH3_domain,pfscan_SH3_domain - no_errors EPS8L3 HGNC ENSG00000198758 166 0 0 97 33 25.3846 LRIF1 0 genome.wustl.edu 37 1 111490657 111490658 + Frame_Shift_Ins INS - - T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 111490657 111490658 - T INS LRIF1 ENST00000369763 human ensembl 74_37 -1 known frame_shift_ins c.2234_2233 p.I745fs 1.000:1.000 NULL NULL - no_errors LRIF1 HGNC ENSG00000121931 128 0 0 76 7 8.43373 TTLL10 0 genome.wustl.edu 37 1 1116223 1116224 + Frame_Shift_Del DEL GG GG - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 GG GG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 1116223 1116224 GG - DEL TTLL10 ENST00000379289 human ensembl 74_37 +1 known frame_shift_del c.738_739 p.V249fs 0.000:0.000 NULL pfam_TTL/TTLL_fam - no_errors TTLL10 HGNC ENSG00000162571 16 0 0 5 4 44.4444 ADORA3 0 genome.wustl.edu 37 1 112045810 112045811 + Frame_Shift_Ins INS - - T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 112045810 112045811 - T INS ADORA3 ENST00000369716 human ensembl 74_37 -1 known frame_shift_ins c.167_166 p.L56fs 1.000:0.983 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Adeno_A3_rcpt,prints_GPCR_Rhodpsn - no_errors ADORA3 HGNC ENSG00000121933 53 0 0 32 19 37.2549 MOV10 0 genome.wustl.edu 37 1 113243060 113243060 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 113243060 113243060 C - DEL MOV10 ENST00000357443 human ensembl 74_37 +1 known frame_shift_del c.2943 p.Q983fs 0.829 NULL superfamily_P-loop_NTPase - no_errors MOV10 HGNC ENSG00000155363 87 0 0 48 27 36 MAGI3 0 genome.wustl.edu 37 1 114216007 114216007 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 114216007 114216007 G - DEL MAGI3 ENST00000369611 human ensembl 74_37 +1 known frame_shift_del c.3109 p.K1039fs 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,pfam_WW_dom,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_PDZ,smart_GK/Ca_channel_bsu,smart_WW_dom,pfscan_PDZ,pfscan_WW_dom,pfscan_Guanylate_kin-like - no_errors MAGI3 HGNC ENSG00000081026 171 0 0 87 43 33.0769 TAS1R3 0 genome.wustl.edu 37 1 1266835 1266836 + Frame_Shift_Ins INS - - G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 1266835 1266836 - G INS TAS1R3 ENST00000339381 human ensembl 74_37 +1 known frame_shift_ins c.110_111 p.L40fs 0.997:1.000 superfamily_Peripla_BP_I,prints_GPCR_3 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3 - no_errors TAS1R3 HGNC ENSG00000169962 44 0 0 19 8 29.6296 DVL1 0 genome.wustl.edu 37 1 1273478 1273478 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 1273478 1273478 G - DEL DVL1 ENST00000378888 human ensembl 74_37 -1 known frame_shift_del c.1593 p.W532fs 1.000 pfam_Dishevelled_C-dom pfam_Dishevelled_C-dom,pfam_DIX,pfam_Dishevelled_protein_dom,pfam_PDZ,pfam_DEP_dom,superfamily_PDZ,smart_DIX,smart_PDZ,smart_DEP_dom,pfscan_DEP_dom,pfscan_DIX,pfscan_PDZ,prints_Dishevelled_fam - no_errors DVL1 HGNC ENSG00000107404 28 0 0 20 9 31.0345 MXRA8 0 genome.wustl.edu 37 1 1290110 1290110 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 1290110 1290110 G - DEL MXRA8 ENST00000445648 human ensembl 74_37 -1 known frame_shift_del c.901 p.R301fs 0.000 NULL pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors MXRA8 HGNC ENSG00000162576 27 0 0 10 19 65.5172 ANKRD34A 0 genome.wustl.edu 37 1 145473439 145473439 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 145473439 145473439 G - DEL ANKRD34A ENST00000323397 human ensembl 74_37 +1 known frame_shift_del c.111 p.E39fs 0.980 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD34A HGNC ENSG00000181039 117 0 0 116 45 27.9503 ITGA10 0 genome.wustl.edu 37 1 145537735 145537736 + Splice_Site DEL AG AG - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 145537735 145537736 AG - DEL ITGA10 ENST00000369304 human ensembl 74_37 +1 known splice_site_del c.2575-2_2575-1 e21-1 1.000:1.000 - - - no_errors ITGA10 HGNC ENSG00000143127 72 0 0 82 16 16.3265 MTMR11 0 genome.wustl.edu 37 1 149902648 149902648 + RNA DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 149902648 149902648 A - DEL MTMR11 ENST00000492824 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MTMR11 HGNC ENSG00000014914 38 0 0 24 5 17.2414 RPRD2 0 genome.wustl.edu 37 1 150445908 150445908 + RNA DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 150445908 150445908 T - DEL RPRD2 ENST00000492220 human ensembl 74_37 +1 known rna NULL NULL 0.276 - - - no_errors RPRD2 HGNC ENSG00000163125 18 0 0 20 7 25.9259 HORMAD1 0 genome.wustl.edu 37 1 150686528 150686529 + RNA INS - - A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 150686528 150686529 - A INS HORMAD1 ENST00000476530 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.036 - - - no_errors HORMAD1 HGNC ENSG00000143452 97 0 0 54 10 15.625 SETDB1 0 genome.wustl.edu 37 1 150917624 150917624 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 150917624 150917624 G - DEL SETDB1 ENST00000368962 human ensembl 74_37 +1 known frame_shift_del c.1180 p.G396fs 0.000 NULL smart_Tudor - no_errors SETDB1 HGNC ENSG00000143379 25 0 0 28 11 28.2051 ZNF687 0 genome.wustl.edu 37 1 151259458 151259458 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 151259458 151259458 C - DEL ZNF687 ENST00000324048 human ensembl 74_37 +1 known frame_shift_del c.691 p.Q232fs 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF687 HGNC ENSG00000143373 180 0 0 167 25 13.0208 MIR554 0 genome.wustl.edu 37 1 151518350 151518351 + RNA INS - - TC TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 151518350 151518351 - TC INS MIR554 ENST00000384874 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.001 - - - no_errors MIR554 HGNC ENSG00000207606 41 0 0 15 14 48.2759 FLG 0 genome.wustl.edu 37 1 152286885 152286885 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 152286885 152286885 T - DEL FLG ENST00000368799 human ensembl 74_37 -1 known frame_shift_del c.477 p.E160fs 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 101 0 0 46 31 40.2597 NUP210L 0 genome.wustl.edu 37 1 153965404 153965404 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 153965404 153965404 A - DEL NUP210L ENST00000368559 human ensembl 74_37 -1 known frame_shift_del c.5574 p.F1858fs 0.000 NULL pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,smart_Big_2 - no_errors NUP210L HGNC ENSG00000143552 178 1 0.558659 150 38 20.2128 PYGO2 0 genome.wustl.edu 37 1 154932028 154932028 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 154932028 154932028 G - DEL PYGO2 ENST00000368457 human ensembl 74_37 -1 known frame_shift_del c.448 p.Q150fs 0.997 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PYGO2 HGNC ENSG00000163348 76 0 0 88 22 20 SHC1 0 genome.wustl.edu 37 1 154938468 154938468 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 154938468 154938468 G - DEL SHC1 ENST00000368445 human ensembl 74_37 -1 known frame_shift_del c.1338 p.N447fs 0.270 NULL pfam_PTB/PI_dom,pfam_SH2,smart_PTB/PI_dom,smart_SH2,pfscan_PTB/PI_dom,pfscan_SH2,prints_PID_Shc-like,prints_SH2 - no_errors SHC1 HGNC ENSG00000160691 130 0 0 157 60 27.6498 MUC1 0 genome.wustl.edu 37 1 155160852 155160852 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 155160852 155160852 A - DEL MUC1 ENST00000368395 human ensembl 74_37 -1 known frame_shift_del c.675 p.A226fs 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC1 HGNC ENSG00000185499 34 0 0 43 11 20.3704 CLK2 0 genome.wustl.edu 37 1 155232988 155232988 + RNA DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 155232988 155232988 G - DEL CLK2 ENST00000476983 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors CLK2 HGNC ENSG00000176444 38 0 0 13 11 45.8333 GON4L 0 genome.wustl.edu 37 1 155785777 155785778 + RNA DEL AA AA - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 155785777 155785778 AA - DEL GON4L ENST00000471341 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors GON4L HGNC ENSG00000116580 13 0 0 5 6 54.5455 MEF2D 0 genome.wustl.edu 37 1 156438036 156438036 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 156438036 156438036 G - DEL MEF2D ENST00000348159 human ensembl 74_37 -1 known frame_shift_del c.1303 p.H435fs 1.000 NULL pfam_TF_MADSbox,pfam_HJURP_C,superfamily_TF_MADSbox,smart_TF_MADSbox,pfscan_TF_MADSbox,prints_TF_MADSbox - no_errors MEF2D HGNC ENSG00000116604 67 0 0 91 21 18.75 HDGF 0 genome.wustl.edu 37 1 156715104 156715104 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 156715104 156715104 A - DEL HDGF ENST00000368206 human ensembl 74_37 -1 known frame_shift_del c.197 p.F66fs 1.000 pfam_PWWP_dom pfam_PWWP_dom - no_errors HDGF HGNC ENSG00000143321 34 0 0 33 6 15.3846 PEAR1 0 genome.wustl.edu 37 1 156883790 156883790 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 156883790 156883790 C - DEL PEAR1 ENST00000292357 human ensembl 74_37 +1 known frame_shift_del c.2860 p.R956fs 0.864 NULL pfam_EGF_laminin,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EMI_domain - no_errors PEAR1 HGNC ENSG00000187800 31 0 0 27 6 18.1818 ARHGEF11 0 genome.wustl.edu 37 1 156926350 156926350 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 156926350 156926350 G - DEL ARHGEF11 ENST00000368194 human ensembl 74_37 -1 known frame_shift_del c.1533 p.M512fs 1.000 pfam_RGS-like_dom,superfamily_Regulat_G_prot_signal_superfam pfam_RGS-like_dom,pfam_DH-domain,pfam_PDZ,pfam_RGS_dom,superfamily_DH-domain,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_Regulat_G_prot_signal_superfam,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal_superfam,pfscan_DH-domain - no_errors ARHGEF11 HGNC ENSG00000132694 120 0 0 65 58 47.1545 MNDA 0 genome.wustl.edu 37 1 158813814 158813814 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 158813814 158813814 C - DEL MNDA ENST00000368141 human ensembl 74_37 +1 known frame_shift_del c.472 p.P159fs 0.001 NULL pfam_HIN200/IF120x,pfam_DAPIN,pfscan_DAPIN,pfscan_HIN200/IF120x - no_errors MNDA HGNC ENSG00000163563 201 0 0 165 112 40.4332 KCNJ10 0 genome.wustl.edu 37 1 160012018 160012018 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 160012018 160012018 G - DEL KCNJ10 ENST00000368089 human ensembl 74_37 -1 known frame_shift_del c.305 p.P102fs 0.995 pfam_K_chnl_inward-rec_Kir,pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir1.2,prints_K_chnl_inward-rec_Kir1.1 - no_errors KCNJ10 HGNC ENSG00000177807 124 0 0 116 38 24.6753 KCNJ9 0 genome.wustl.edu 37 1 160057324 160057324 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 160057324 160057324 G - DEL KCNJ9 ENST00000368088 human ensembl 74_37 +1 known frame_shift_del c.899 p.G301fs 1.000 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir3.3 - no_errors KCNJ9 HGNC ENSG00000162728 107 0 0 80 72 47.3684 ATP1A4 0 genome.wustl.edu 37 1 160134106 160134106 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 160134106 160134106 T - DEL ATP1A4 ENST00000368081 human ensembl 74_37 +1 known frame_shift_del c.939 p.F315fs 0.145 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP1A4 HGNC ENSG00000132681 251 0 0 230 75 24.5902 USP21 0 genome.wustl.edu 37 1 161134660 161134660 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 161134660 161134660 A - DEL USP21 ENST00000289865 human ensembl 74_37 +1 known frame_shift_del c.1420 p.S476fs 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP21 HGNC ENSG00000143258 106 1 0.934579 92 16 14.8148 C1orf192 0 genome.wustl.edu 37 1 161335436 161335437 + Frame_Shift_Ins INS - - G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 161335436 161335437 - G INS C1orf192 ENST00000367974 human ensembl 74_37 -1 known frame_shift_ins c.228_227 p.A77fs 0.998:1.000 NULL NULL - no_errors C1orf192 HGNC ENSG00000188931 201 0 0 208 56 21.2121 HSPA6 0 genome.wustl.edu 37 1 161495465 161495465 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 161495465 161495465 G - DEL HSPA6 ENST00000309758 human ensembl 74_37 +1 known frame_shift_del c.1017 p.G341fs 1.000 pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA6 HGNC ENSG00000173110 49 0 0 37 32 46.3768 MGST3 0 genome.wustl.edu 37 1 165621239 165621240 + Frame_Shift_Ins INS - - T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 165621239 165621240 - T INS MGST3 ENST00000367886 human ensembl 74_37 +1 known frame_shift_ins c.258_259 p.L88fs 0.488:0.997 pfam_Membr-assoc_MAPEG pfam_Membr-assoc_MAPEG - no_errors MGST3 HGNC ENSG00000143198 68 0 0 37 7 15.9091 TADA1 0 genome.wustl.edu 37 1 166845410 166845410 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 166845410 166845410 C - DEL TADA1 ENST00000367874 human ensembl 74_37 -1 known frame_shift_del c.61 p.D21fs 1.000 NULL superfamily_Histone-fold - no_errors TADA1 HGNC ENSG00000152382 21 0 0 36 7 16.2791 NECAP2 0 genome.wustl.edu 37 1 16774818 16774818 + RNA DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 16774818 16774818 T - DEL NECAP2 ENST00000508680 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors NECAP2 HGNC ENSG00000157191 12 0 0 5 6 54.5455 F5 0 genome.wustl.edu 37 1 169499051 169499051 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 169499051 169499051 T - DEL F5 ENST00000367797 human ensembl 74_37 -1 known frame_shift_del c.5214 p.D1739fs 0.994 superfamily_Cupredoxin pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors F5 HGNC ENSG00000198734 106 0 0 70 16 18.6047 PRRC2C 0 genome.wustl.edu 37 1 171514739 171514739 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 171514739 171514739 A - DEL PRRC2C ENST00000392078 human ensembl 74_37 +1 known frame_shift_del c.4885 p.R1631fs 1.000 NULL pfam_BAT2_N - no_errors PRRC2C HGNC ENSG00000117523 20 0 0 32 6 15.7895 PRRC2C 0 genome.wustl.edu 37 1 171560900 171560900 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 171560900 171560900 C - DEL PRRC2C ENST00000392078 human ensembl 74_37 +1 known frame_shift_del c.8611 p.P2872fs 0.877 NULL pfam_BAT2_N - no_errors PRRC2C HGNC ENSG00000117523 112 0 0 125 39 23.7805 RASAL2 0 genome.wustl.edu 37 1 178412033 178412033 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 178412033 178412033 A - DEL RASAL2 ENST00000367649 human ensembl 74_37 +1 known frame_shift_del c.1151 p.K386fs 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom pfam_DUF3498,pfam_RasGAP,pfam_Pleckstrin_homology,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,superfamily_PP1_inhibitor,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP - no_errors RASAL2 HGNC ENSG00000075391 99 0 0 54 21 28 C1orf27 0 genome.wustl.edu 37 1 186368168 186368168 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 186368168 186368168 A - DEL C1orf27 ENST00000287859 human ensembl 74_37 +1 known frame_shift_del c.992 p.D334fs 0.989 NULL NULL - no_errors C1orf27 HGNC ENSG00000157181 24 0 0 7 8 53.3333 KCNT2 0 genome.wustl.edu 37 1 196577587 196577587 + RNA DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 196577587 196577587 G - DEL KCNT2 ENST00000610076 human ensembl 74_37 -1 known rna NULL NULL 0.075 - - - no_errors KCNT2 HGNC ENSG00000162687 10 0 0 11 2 15.3846 CFHR1 0 genome.wustl.edu 37 1 196799650 196799650 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 196799650 196799650 C - DEL CFHR1 ENST00000320493 human ensembl 74_37 +1 known frame_shift_del c.628 p.P211fs 0.317 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFHR1 HGNC ENSG00000244414 204 0 0 103 61 37.1951 F13B 0 genome.wustl.edu 37 1 197030158 197030158 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 197030158 197030158 G - DEL F13B ENST00000367412 human ensembl 74_37 -1 known frame_shift_del c.499 p.Q167fs 0.985 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors F13B HGNC ENSG00000143278 70 0 0 55 12 17.9104 DDX59 0 genome.wustl.edu 37 1 200594042 200594042 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 200594042 200594042 T - DEL DDX59 ENST00000447706 human ensembl 74_37 -1 known frame_shift_del c.1730 p.N577fs 0.001 pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Znf_HIT,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 DDX59 HGNC ENSG00000118197 59 0 0 33 8 19.5122 CAMSAP2 0 genome.wustl.edu 37 1 200776602 200776602 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 200776602 200776602 T - DEL CAMSAP2 ENST00000236925 human ensembl 74_37 +1 known frame_shift_del c.498 p.Q169fs 0.252 NULL pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrel-like,superfamily_CH-domain - no_errors CAMSAP2 HGNC ENSG00000118200 105 0 0 85 24 22.0183 PTPN7 0 genome.wustl.edu 37 1 202128443 202128443 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 202128443 202128443 T - DEL PTPN7 ENST00000309017 human ensembl 74_37 -1 known frame_shift_del c.403 p.T135fs 0.003 NULL pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_KIM-con,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN7 HGNC ENSG00000143851 71 0 0 75 16 17.5824 ENSG00000226862 0 genome.wustl.edu 37 1 202573400 202573400 + RNA DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 202573400 202573400 C - DEL ENSG00000226862 ENST00000428573 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-569A11.1 Clone_based_vega_gene ENSG00000226862 27 0 0 8 5 38.4615 PIK3C2B 0 genome.wustl.edu 37 1 204416659 204416660 + Frame_Shift_Ins INS - - G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 204416659 204416660 - G INS PIK3C2B ENST00000367187 human ensembl 74_37 -1 known frame_shift_ins c.2394_2393 p.G799fs 0.027:0.018 superfamily_ARM-type_fold pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,pfam_Phox,pfam_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,superfamily_Phox,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_dom,pfscan_C2_dom,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C2B HGNC ENSG00000133056 88 0 0 76 67 46.8531 NFASC 0 genome.wustl.edu 37 1 204924033 204924033 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 204924033 204924033 C - DEL NFASC ENST00000367172 human ensembl 74_37 +1 known frame_shift_del c.489 p.P165fs 1.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors NFASC HGNC ENSG00000163531 312 0 0 262 78 22.9412 FAIM3 0 genome.wustl.edu 37 1 207087395 207087395 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 207087395 207087395 C - DEL FAIM3 ENST00000367091 human ensembl 74_37 -1 known frame_shift_del c.82 p.E28fs 0.000 pfam_Ig_V-set,smart_Ig_sub pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub - no_errors FAIM3 HGNC ENSG00000162894 138 0 0 135 46 25.4144 CD34 0 genome.wustl.edu 37 1 208063101 208063102 + Frame_Shift_Del DEL AA AA - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 208063101 208063102 AA - DEL CD34 ENST00000367036 human ensembl 74_37 -1 known frame_shift_del c.82_81 p.S28fs 0.000:0.000 NULL pfam_CD34/Podocalyxin,prints_CD34 - no_errors CD34 HGNC ENSG00000174059 24 0 0 21 13 38.2353 RAB3GAP2 0 genome.wustl.edu 37 1 220369664 220369665 + Frame_Shift_Ins INS - - T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 220369664 220369665 - T INS RAB3GAP2 ENST00000358951 human ensembl 74_37 -1 known frame_shift_ins c.888_887 p.N296fs 0.994:1.000 NULL superfamily_WD40_repeat_dom - no_errors RAB3GAP2 HGNC ENSG00000118873 123 1 0.806452 122 34 21.7949 DUSP10 0 genome.wustl.edu 37 1 221875678 221875678 + RNA DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 221875678 221875678 A - DEL DUSP10 ENST00000468085 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors DUSP10 HGNC ENSG00000143507 94 0 0 60 10 14.2857 HHIPL2 0 genome.wustl.edu 37 1 222713509 222713509 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 222713509 222713509 G - DEL HHIPL2 ENST00000343410 human ensembl 74_37 -1 known frame_shift_del c.1293 p.I432fs 0.010 superfamily_Quinoprot_gluc/sorb_DH pfam_Folate_rcpt-like,pfam_Glc/Sorbosone_DH,superfamily_Quinoprot_gluc/sorb_DH,superfamily_Saposin-like - no_errors HHIPL2 HGNC ENSG00000143512 112 0 0 95 38 28.5714 PYCR2 0 genome.wustl.edu 37 1 226108959 226108959 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 226108959 226108959 C - DEL PYCR2 ENST00000343818 human ensembl 74_37 -1 known frame_shift_del c.746 p.G249fs 1.000 superfamily_6-PGluconate_DH_C-like,pirsf_Pyrroline-COOH_reductase,tigrfam_Pyrroline-COOH_reductase superfamily_6-PGluconate_DH_C-like,pirsf_Pyrroline-COOH_reductase,tigrfam_Pyrroline-COOH_reductase - no_errors PYCR2 HGNC ENSG00000143811 58 0 0 72 18 20 TRIM17 0 genome.wustl.edu 37 1 228596778 228596779 + Frame_Shift_Ins INS - - C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 228596778 228596779 - C INS TRIM17 ENST00000456946 human ensembl 74_37 -1 known frame_shift_ins c.978_977 p.S327fs 0.000:0.000 NULL pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM17 HGNC ENSG00000162931 72 0 0 46 20 30.303 C1QA 0 genome.wustl.edu 37 1 22965826 22965826 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 22965826 22965826 A - DEL C1QA ENST00000374642 human ensembl 74_37 +1 known frame_shift_del c.664 p.K223fs 0.000 pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QA HGNC ENSG00000173372 70 0 0 36 23 38.9831 C1orf131 0 genome.wustl.edu 37 1 231362513 231362513 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 231362513 231362513 T - DEL C1orf131 ENST00000366649 human ensembl 74_37 -1 known frame_shift_del c.665 p.K222fs 1.000 NULL NULL - no_errors C1orf131 HGNC ENSG00000143633 147 0 0 119 37 23.7179 EGLN1 0 genome.wustl.edu 37 1 231502214 231502214 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 231502214 231502214 T - DEL EGLN1 ENST00000366641 human ensembl 74_37 -1 known frame_shift_del c.1224 p.G409fs 1.000 NULL pfam_Znf_MYND,pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph,pfscan_Znf_MYND - no_errors EGLN1 HGNC ENSG00000135766 58 0 0 45 6 11.7647 EPHB2 0 genome.wustl.edu 37 1 23240246 23240246 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 23240246 23240246 A - DEL EPHB2 ENST00000400191 human ensembl 74_37 +1 known frame_shift_del c.3051 p.K1020fs 0.270 NULL pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,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 EPHB2 HGNC ENSG00000133216 9 0 0 16 10 38.4615 RYR2 0 genome.wustl.edu 37 1 237617790 237617790 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 237617790 237617790 C - DEL RYR2 ENST00000360064 human ensembl 74_37 +1 known frame_shift_del c.1386 p.P464fs 0.997 pfam_Ca-rel_channel pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 70 0 0 39 36 48 ADSS 0 genome.wustl.edu 37 1 244587345 244587345 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 244587345 244587345 T - DEL ADSS ENST00000366535 human ensembl 74_37 -1 known frame_shift_del c.491 p.K164fs 1.000 pfam_Adenylosuccinate_synthetase,superfamily_P-loop_NTPase,smart_Adenylosuccinate_synthetase,tigrfam_Adenylosuccinate_synthetase pfam_Adenylosuccinate_synthetase,superfamily_P-loop_NTPase,smart_Adenylosuccinate_synthetase,tigrfam_Adenylosuccinate_synthetase - no_errors ADSS HGNC ENSG00000035687 55 0 0 42 29 40.8451 KIF26B 0 genome.wustl.edu 37 1 245849479 245849479 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 245849479 245849479 C - DEL KIF26B ENST00000407071 human ensembl 74_37 +1 known frame_shift_del c.3194 p.R1067fs 1.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF26B HGNC ENSG00000162849 59 0 0 78 23 22.7723 SMYD3 0 genome.wustl.edu 37 1 246490427 246490428 + RNA INS - - T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 246490427 246490428 - T INS SMYD3 ENST00000470863 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors SMYD3 HGNC ENSG00000185420 83 0 0 64 21 24.7059 NLRP3 0 genome.wustl.edu 37 1 247587978 247587978 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 247587978 247587978 C - DEL NLRP3 ENST00000336119 human ensembl 74_37 +1 known frame_shift_del c.1233 p.L413fs 0.974 pfscan_NACHT_NTPase pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP3 HGNC ENSG00000162711 83 0 0 84 23 21.4953 ARID1A 0 genome.wustl.edu 37 1 27105931 27105931 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 27105931 27105931 G - DEL ARID1A ENST00000324856 human ensembl 74_37 +1 known frame_shift_del c.5542 p.D1850fs 1.000 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ENSG00000117713 137 0 0 87 37 29.8387 ARID1A 0 genome.wustl.edu 37 1 27106804 27106804 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 27106804 27106804 C - DEL ARID1A ENST00000324856 human ensembl 74_37 +1 known frame_shift_del c.6415 p.F2141fs 0.999 pfam_DUF3518,superfamily_ARM-type_fold pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ENSG00000117713 172 0 0 98 63 39.1304 WDTC1 0 genome.wustl.edu 37 1 27621108 27621108 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 27621108 27621108 G - DEL WDTC1 ENST00000319394 human ensembl 74_37 +1 known frame_shift_del c.861 p.E290fs 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,smart_TPR_repeat,pfscan_TPR-contain_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDTC1 HGNC ENSG00000142784 43 0 0 20 22 52.381 PHACTR4 0 genome.wustl.edu 37 1 28785730 28785730 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 28785730 28785730 A - DEL PHACTR4 ENST00000373836 human ensembl 74_37 +1 known frame_shift_del c.181 p.S64fs 1.000 NULL pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat - no_errors PHACTR4 HGNC ENSG00000204138 79 0 0 20 53 72.6027 EPB41 0 genome.wustl.edu 37 1 29379717 29379717 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 29379717 29379717 A - DEL EPB41 ENST00000343067 human ensembl 74_37 +1 known frame_shift_del c.1738 p.T582fs 0.796 pirsf_Band_41_protein pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB_dom,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like,pfscan_FERM_domain - no_errors EPB41 HGNC ENSG00000159023 72 0 0 69 30 30.303 PTP4A2 0 genome.wustl.edu 37 1 32384717 32384717 + RNA DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 32384717 32384717 A - DEL PTP4A2 ENST00000532289 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors PTP4A2 HGNC ENSG00000184007 15 0 0 8 7 46.6667 HDAC1 0 genome.wustl.edu 37 1 32797831 32797833 + In_Frame_Del DEL GAG GAG - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 32797831 32797833 GAG - DEL HDAC1 ENST00000373548 human ensembl 74_37 +1 known in_frame_del c.1360_1362 p.E455in_frame_del 1.000:1.000:0.967 NULL pfam_His_deacetylse_dom,pirsf_His_deacetylse_1,prints_His_deacetylse_1,prints_His_deacetylse - no_errors HDAC1 HGNC ENSG00000116478 122 0 0 88 39 30.7087 DLGAP3 0 genome.wustl.edu 37 1 35370731 35370731 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 35370731 35370731 C - DEL DLGAP3 ENST00000235180 human ensembl 74_37 -1 known frame_shift_del c.254 p.G85fs 1.000 NULL pfam_GKAP - no_errors DLGAP3 HGNC ENSG00000116544 8 0 0 6 7 53.8462 ZMYM4 0 genome.wustl.edu 37 1 35846960 35846960 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 35846960 35846960 A - DEL ZMYM4 ENST00000314607 human ensembl 74_37 +1 known frame_shift_del c.1282 p.K430fs 1.000 NULL pfam_DUF3504,pfam_Znf_MYM,smart_TRASH_dom - no_errors ZMYM4 HGNC ENSG00000146463 93 0 0 50 16 24.2424 ENSG00000271554 0 genome.wustl.edu 37 1 36479150 36479150 + RNA DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 36479150 36479150 A - DEL ENSG00000271554 ENST00000479395 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP4-665N4.8 Clone_based_vega_gene ENSG00000271554 105 0 0 47 10 17.5439 COL8A2 0 genome.wustl.edu 37 1 36564489 36564489 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 36564489 36564489 C - DEL COL8A2 ENST00000303143 human ensembl 74_37 -1 known frame_shift_del c.793 p.E265fs 1.000 NULL pfam_Collagen,pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors COL8A2 HGNC ENSG00000171812 37 0 0 21 15 41.6667 PABPC4 0 genome.wustl.edu 37 1 40028016 40028016 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 40028016 40028016 G - DEL PABPC4 ENST00000372858 human ensembl 74_37 -1 known frame_shift_del c.1741 p.Q581fs 1.000 pfam_PABP_HYD,superfamily_PABP_HYD,smart_PABP_HYD,tigrfam_PABP_1234 pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234 - no_errors PABPC4 HGNC ENSG00000090621 137 0 0 75 41 35.3448 CTPS1 0 genome.wustl.edu 37 1 41462979 41462979 + RNA DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 41462979 41462979 T - DEL CTPS1 ENST00000486889 human ensembl 74_37 +1 known rna NULL NULL 0.012 - - - no_errors CTPS1 HGNC ENSG00000171793 37 0 0 21 8 27.5862 HIVEP3 0 genome.wustl.edu 37 1 42046123 42046124 + Frame_Shift_Ins INS - - T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 42046123 42046124 - T INS HIVEP3 ENST00000247584 human ensembl 74_37 -1 known frame_shift_ins c.4346_4345 p.R1449fs 1.000:1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP3 HGNC ENSG00000127124 176 0 0 135 20 12.9032 SZT2 0 genome.wustl.edu 37 1 43914072 43914072 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 43914072 43914072 G - DEL SZT2 ENST00000562955 human ensembl 74_37 +1 known frame_shift_del c.9715 p.R3241fs 0.994 NULL NULL - no_errors SZT2 HGNC ENSG00000198198 17 0 0 9 6 40 MAST2 0 genome.wustl.edu 37 1 46494559 46494559 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 46494559 46494559 T - DEL MAST2 ENST00000361297 human ensembl 74_37 +1 known frame_shift_del c.2172 p.F726fs 0.998 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_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom - no_errors MAST2 HGNC ENSG00000086015 269 1 0.37037 225 37 14.1221 TSPAN1 0 genome.wustl.edu 37 1 46650191 46650192 + RNA INS - - G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 46650191 46650192 - G INS TSPAN1 ENST00000482143 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors TSPAN1 HGNC ENSG00000117472 123 0 0 81 19 19 LRRC41 0 genome.wustl.edu 37 1 46726877 46726877 + RNA DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 46726877 46726877 T - DEL LRRC41 ENST00000496156 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors LRRC41 HGNC ENSG00000132128 36 0 0 9 9 50 CYP4Z1 0 genome.wustl.edu 37 1 47581140 47581140 + RNA DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 47581140 47581140 A - DEL CYP4Z1 ENST00000471598 human ensembl 74_37 +1 known rna NULL NULL 0.010 - - - no_errors CYP4Z1 HGNC ENSG00000186160 24 0 0 3 13 81.25 HOOK1 0 genome.wustl.edu 37 1 60314140 60314140 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 60314140 60314140 A - DEL HOOK1 ENST00000371208 human ensembl 74_37 +1 known frame_shift_del c.1083 p.A364fs 0.150 pfam_Hook-related_fam pfam_Hook-related_fam,superfamily_Prefoldin - no_errors HOOK1 HGNC ENSG00000134709 107 0 0 50 21 29.5775 RPL22 0 genome.wustl.edu 37 1 6257785 6257785 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 6257785 6257785 T - DEL RPL22 ENST00000234875 human ensembl 74_37 -1 known frame_shift_del c.44 p.K15fs 1.000 pfam_Ribosomal_L22e pfam_Ribosomal_L22e - no_errors RPL22 HGNC ENSG00000116251 48 0 0 10 17 62.963 KANK4 0 genome.wustl.edu 37 1 62740427 62740427 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 62740427 62740427 G - DEL KANK4 ENST00000371153 human ensembl 74_37 -1 known frame_shift_del c.349 p.Q117fs 0.001 NULL pfam_KN_motif,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KANK4 HGNC ENSG00000132854 90 0 0 48 20 29.4118 DOCK7 0 genome.wustl.edu 37 1 62941104 62941104 + RNA DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 62941104 62941104 A - DEL DOCK7 ENST00000467758 human ensembl 74_37 -1 known rna NULL NULL 0.057 - - - no_errors DOCK7 HGNC ENSG00000116641 26 0 0 16 7 30.4348 ITGB3BP 0 genome.wustl.edu 37 1 63912547 63912547 + RNA DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 63912547 63912547 T - DEL ITGB3BP ENST00000492655 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors ITGB3BP HGNC ENSG00000142856 43 0 0 43 6 12.2449 KLHL21 0 genome.wustl.edu 37 1 6653683 6653683 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 6653683 6653683 C - DEL KLHL21 ENST00000377658 human ensembl 74_37 -1 known frame_shift_del c.1536 p.K513fs 0.991 pfam_Kelch_1,pfam_Kelch_2,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL21 HGNC ENSG00000162413 51 0 0 32 9 21.9512 WDR78 0 genome.wustl.edu 37 1 67390426 67390426 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 67390426 67390426 T - DEL WDR78 ENST00000371026 human ensembl 74_37 -1 known frame_shift_del c.89 p.K30fs 0.001 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR78 HGNC ENSG00000152763 166 0 0 139 38 21.4689 ZRANB2 0 genome.wustl.edu 37 1 71535065 71535065 + RNA DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 71535065 71535065 T - DEL ZRANB2 ENST00000487510 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors ZRANB2 HGNC ENSG00000132485 71 0 0 48 6 11.1111 ST6GALNAC5 0 genome.wustl.edu 37 1 77334277 77334279 + In_Frame_Del DEL GCA GCA - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 GCA GCA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 77334277 77334279 GCA - DEL ST6GALNAC5 ENST00000477717 human ensembl 74_37 +1 known in_frame_del c.111_113 p.Q41in_frame_del 1.000:1.000:1.000 pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST6GALNAC5 HGNC ENSG00000117069 52 0 0 30 9 23.0769 FAM73A 0 genome.wustl.edu 37 1 78326950 78326950 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 78326950 78326950 T - DEL FAM73A ENST00000370791 human ensembl 74_37 +1 known frame_shift_del c.1317 p.L441fs 1.000 pfam_DUF2217 pfam_DUF2217 - no_errors FAM73A HGNC ENSG00000180488 81 0 0 31 15 32.6087 RERE 0 genome.wustl.edu 37 1 8415652 8415652 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 8415652 8415652 G - DEL RERE ENST00000337907 human ensembl 74_37 -1 known frame_shift_del c.4494 p.Y1499fs 0.910 pfam_Atrophin-like pfam_Atrophin-like,pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom - no_errors RERE HGNC ENSG00000142599 26 0 0 20 10 33.3333 CTBS 0 genome.wustl.edu 37 1 85020568 85020568 + RNA DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 85020568 85020568 T - DEL CTBS ENST00000477677 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors CTBS HGNC ENSG00000117151 18 0 0 5 3 37.5 ODF2L 0 genome.wustl.edu 37 1 86826141 86826142 + Frame_Shift_Ins INS - - T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 86826141 86826142 - T INS ODF2L ENST00000317336 human ensembl 74_37 -1 known frame_shift_ins c.1222_1221 p.Q407fs 0.991:0.038 NULL NULL - no_errors ODF2L HGNC ENSG00000122417 81 0 0 41 11 21.1538 MTF2 0 genome.wustl.edu 37 1 93602676 93602676 + RNA DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 93602676 93602676 A - DEL MTF2 ENST00000467953 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors MTF2 HGNC ENSG00000143033 18 0 0 11 4 26.6667 DNTTIP2 0 genome.wustl.edu 37 1 94335461 94335461 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 94335461 94335461 T - DEL DNTTIP2 ENST00000436063 human ensembl 74_37 -1 known frame_shift_del c.2217 p.A740fs 0.993 NULL pfam_Fcf2 - no_errors DNTTIP2 HGNC ENSG00000067334 59 0 0 17 10 37.037 AGRN 0 genome.wustl.edu 37 1 980571 980571 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 1 980571 980571 C - DEL AGRN ENST00000379370 human ensembl 74_37 +1 known frame_shift_del c.2285 p.L764fs 0.001 NULL pfam_Laminin_G,pfam_Agrin_NtA,pfam_Kazal_dom,pfam_EGF_laminin,pfam_SEA_dom,pfam_EG-like_dom,superfamily_TIMP-like_OB-fold,superfamily_ConA-like_lec_gl_sf,smart_FacI_MAC,smart_Fol_N,smart_Kazal_dom,smart_EG-like_dom,smart_EGF_laminin,smart_SEA_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Agrin_NtA,pfscan_SEA_dom - no_errors AGRN HGNC ENSG00000188157 34 0 0 31 19 38 CNNM1 0 genome.wustl.edu 37 10 101089318 101089318 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 101089318 101089318 G - DEL CNNM1 ENST00000356713 human ensembl 74_37 +1 known frame_shift_del c.174 p.G60fs 1.000 NULL pfam_DUF21,pfam_CBS_dom - no_errors CNNM1 HGNC ENSG00000119946 13 0 0 12 9 42.8571 CWF19L1 0 genome.wustl.edu 37 10 101992924 101992925 + RNA DEL AA AA - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 101992924 101992925 AA - DEL CWF19L1 ENST00000468709 human ensembl 74_37 -1 known rna NULL NULL 0.167:0.180 - - - no_errors CWF19L1 HGNC ENSG00000095485 58 0 0 25 33 56.8966 HIF1AN 0 genome.wustl.edu 37 10 102306303 102306303 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 102306303 102306303 G - DEL HIF1AN ENST00000299163 human ensembl 74_37 +1 known frame_shift_del c.859 p.I289fs 1.000 pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors HIF1AN HGNC ENSG00000166135 200 0 0 81 48 37.2093 FAM178A 0 genome.wustl.edu 37 10 102684424 102684424 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 102684424 102684424 C - DEL FAM178A ENST00000370269 human ensembl 74_37 +1 known frame_shift_del c.1666 p.P557fs 1.000 NULL NULL - no_errors FAM178A HGNC ENSG00000119906 135 0 0 110 7 5.98291 NFKB2 0 genome.wustl.edu 37 10 104160987 104160987 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 104160987 104160987 C - DEL NFKB2 ENST00000369966 human ensembl 74_37 +1 known frame_shift_del c.2122 p.P709fs 0.982 superfamily_Ankyrin_rpt-contain_dom pfam_RHD,pfam_Ankyrin_rpt,pfam_Death_domain,superfamily_p53-like_TF_DNA-bd,superfamily_Ankyrin_rpt-contain_dom,superfamily_Ig_E-set,superfamily_DEATH-like_dom,smart_IPT,smart_Ankyrin_rpt,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_RHD,prints_NF_Rel_Dor,prints_Ankyrin_rpt - no_errors NFKB2 HGNC ENSG00000077150 100 0 0 100 8 7.40741 NFKB2 0 genome.wustl.edu 37 10 104161207 104161207 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 104161207 104161207 T - DEL NFKB2 ENST00000369966 human ensembl 74_37 +1 known frame_shift_del c.2225 p.V742fs 1.000 NULL pfam_RHD,pfam_Ankyrin_rpt,pfam_Death_domain,superfamily_p53-like_TF_DNA-bd,superfamily_Ankyrin_rpt-contain_dom,superfamily_Ig_E-set,superfamily_DEATH-like_dom,smart_IPT,smart_Ankyrin_rpt,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_RHD,prints_NF_Rel_Dor,prints_Ankyrin_rpt - no_errors NFKB2 HGNC ENSG00000077150 81 0 0 45 27 37.5 PSD 0 genome.wustl.edu 37 10 104175781 104175781 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 104175781 104175781 G - DEL PSD ENST00000020673 human ensembl 74_37 -1 known frame_shift_del c.750 p.S251fs 1.000 NULL pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom,prints_PH_dom-spectrin-type - no_errors PSD HGNC ENSG00000059915 28 0 0 13 14 51.8519 ADD3 0 genome.wustl.edu 37 10 111893350 111893350 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 111893350 111893350 A - DEL ADD3 ENST00000356080 human ensembl 74_37 +1 known frame_shift_del c.2095 p.K701fs 1.000 NULL pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N - no_errors ADD3 HGNC ENSG00000148700 111 0 0 60 22 26.8293 TRUB1 0 genome.wustl.edu 37 10 116730192 116730192 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 116730192 116730192 C - DEL TRUB1 ENST00000298746 human ensembl 74_37 +1 known frame_shift_del c.589 p.L199fs 1.000 pfam_PsdUridine_synth,superfamily_PsdUridine_synth_cat_dom,tigrfam_tRNA_psdUridine_synth_TruB pfam_PsdUridine_synth,superfamily_PsdUridine_synth_cat_dom,tigrfam_tRNA_psdUridine_synth_TruB - no_errors TRUB1 HGNC ENSG00000165832 198 1 0.502513 85 22 20.5607 ATRNL1 0 genome.wustl.edu 37 10 116887435 116887435 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 116887435 116887435 T - DEL ATRNL1 ENST00000355044 human ensembl 74_37 +1 known frame_shift_del c.570 p.F192fs 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_Kelch_1,pfam_Kelch_2,pfam_Plexin_repeat,pfam_CUB_dom,pfam_EGF_extracell,superfamily_C-type_lectin_fold,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_EG-like_dom,smart_CUB_dom,smart_Plexin-like_fold,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin - no_errors ATRNL1 HGNC ENSG00000107518 19 0 0 12 7 36.8421 TIAL1 0 genome.wustl.edu 37 10 121335157 121335157 + RNA DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 121335157 121335157 T - DEL TIAL1 ENST00000463089 human ensembl 74_37 -1 known rna NULL NULL 0.987 - - - no_errors TIAL1 HGNC ENSG00000151923 179 1 0.555556 86 42 32.8125 INPP5F 0 genome.wustl.edu 37 10 121558113 121558114 + Frame_Shift_Ins INS - - A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 121558113 121558114 - A INS INPP5F ENST00000361976 human ensembl 74_37 +1 known frame_shift_ins c.1107_1108 p.Q371fs 1.000:1.000 pfam_Syja_N,pfscan_Syja_N pfam_Syja_N,pfam_Inositol_phosphatase,pfscan_Syja_N - no_errors INPP5F HGNC ENSG00000198825 78 0 0 32 10 23.8095 TACC2 0 genome.wustl.edu 37 10 123970582 123970582 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 123970582 123970582 C - DEL TACC2 ENST00000334433 human ensembl 74_37 +1 known frame_shift_del c.6642 p.P2216fs 0.015 NULL pfam_TACC - no_errors TACC2 HGNC ENSG00000138162 79 0 0 48 24 33.3333 DMBT1 0 genome.wustl.edu 37 10 124402883 124402883 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 124402883 124402883 C - DEL DMBT1 ENST00000338354 human ensembl 74_37 +1 known frame_shift_del c.7211 p.P2406fs 0.000 NULL pfam_SRCR,pfam_CUB_dom,pfam_ZP_dom,superfamily_Srcr_rcpt-rel,superfamily_CUB_dom,smart_Srcr_rcpt-rel,smart_CUB_dom,smart_ZP_dom,pfscan_CUB_dom,pfscan_SRCR,pfscan_ZP_dom,prints_SRCR - no_errors DMBT1 HGNC ENSG00000187908 47 0 0 29 9 23.6842 C10orf88 0 genome.wustl.edu 37 10 124711510 124711510 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 124711510 124711510 T - DEL C10orf88 ENST00000481909 human ensembl 74_37 -1 known frame_shift_del c.401 p.N134fs 0.704 NULL NULL - no_errors C10orf88 HGNC ENSG00000119965 22 0 0 8 8 50 HMX2 0 genome.wustl.edu 37 10 124908149 124908149 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 124908149 124908149 T - DEL HMX2 ENST00000339992 human ensembl 74_37 +1 known frame_shift_del c.255 p.P87fs 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HMX2 HGNC ENSG00000188816 82 0 0 51 18 26.087 CHST15 0 genome.wustl.edu 37 10 125780753 125780756 + Frame_Shift_Del DEL GGGG GGGG - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 GGGG GGGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 125780753 125780756 GGGG - DEL CHST15 ENST00000421115 human ensembl 74_37 -1 known frame_shift_del c.1366_1363 p.P455fs 0.985:0.982:0.979:0.977 NULL pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors CHST15 HGNC ENSG00000182022 22 0 0 19 9 32.1429 OPTN 0 genome.wustl.edu 37 10 13151191 13151192 + Frame_Shift_Ins INS - - C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 13151191 13151192 - C INS OPTN ENST00000263036 human ensembl 74_37 +1 known frame_shift_ins c.69_70 p.H25fs 1.000:1.000 NULL pfam_NEMO_N - no_errors OPTN HGNC ENSG00000123240 181 0 0 136 41 23.1638 OPTN 0 genome.wustl.edu 37 10 13151192 13151192 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 13151192 13151192 C - DEL OPTN ENST00000263036 human ensembl 74_37 +1 known frame_shift_del c.70 p.H26fs 1.000 NULL pfam_NEMO_N - no_errors OPTN HGNC ENSG00000123240 181 0 0 147 30 16.9492 EBF3 0 genome.wustl.edu 37 10 131666125 131666125 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 131666125 131666125 C - DEL EBF3 ENST00000355311 human ensembl 74_37 -1 known frame_shift_del c.833 p.G278fs 1.000 pfam_IPT,superfamily_Ig_E-set,smart_IPT pfam_IPT,superfamily_Ig_E-set,smart_IPT - no_errors EBF3 HGNC ENSG00000108001 72 0 0 66 27 29.0323 KNDC1 0 genome.wustl.edu 37 10 135015044 135015044 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 135015044 135015044 C - DEL KNDC1 ENST00000368572 human ensembl 74_37 +1 known frame_shift_del c.3035 p.C1014fs 0.327 NULL pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_Kinase-like_dom,smart_KIND,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors KNDC1 HGNC ENSG00000171798 122 0 0 102 48 32 TUBGCP2 0 genome.wustl.edu 37 10 135093332 135093332 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 135093332 135093332 G - DEL TUBGCP2 ENST00000543663 human ensembl 74_37 -1 known frame_shift_del c.2731 p.Q911fs 0.463 NULL pfam_TUBGCP,superfamily_Ocr - no_errors TUBGCP2 HGNC ENSG00000130640 12 0 0 13 5 27.7778 ST8SIA6 0 genome.wustl.edu 37 10 17363321 17363321 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 17363321 17363321 T - DEL ST8SIA6 ENST00000377602 human ensembl 74_37 -1 known frame_shift_del c.753 p.A252fs 0.024 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST8SIA6 HGNC ENSG00000148488 84 0 0 38 13 25.4902 DNAJC1 0 genome.wustl.edu 37 10 22208818 22208818 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 22208818 22208818 T - DEL DNAJC1 ENST00000376980 human ensembl 74_37 -1 known frame_shift_del c.578 p.K193fs 1.000 NULL pfam_DnaJ_domain,pfam_SANT/Myb,superfamily_DnaJ_domain,superfamily_Homeodomain-like,smart_DnaJ_domain,smart_SANT/Myb,pfscan_Myb-like_dom,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJC1 HGNC ENSG00000136770 142 0 0 57 22 27.8481 ARHGAP21 0 genome.wustl.edu 37 10 24889807 24889807 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 24889807 24889807 C - DEL ARHGAP21 ENST00000396432 human ensembl 74_37 -1 known frame_shift_del c.2900 p.G967fs 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_Rho_GTPase_activation_prot,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP21 HGNC ENSG00000107863 137 0 0 60 17 22.0779 MYO3A 0 genome.wustl.edu 37 10 26385330 26385330 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 26385330 26385330 T - DEL MYO3A ENST00000265944 human ensembl 74_37 +1 known frame_shift_del c.1583 p.Y530fs 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_dom,prints_Myosin_head_motor_dom - no_errors MYO3A HGNC ENSG00000095777 52 0 0 21 9 30 SVIL 0 genome.wustl.edu 37 10 29760116 29760116 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 29760116 29760116 C - DEL SVIL ENST00000355867 human ensembl 74_37 -1 known frame_shift_del c.5586 p.M1863fs 0.474 NULL pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin/Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Villin/Gelsolin - no_errors SVIL HGNC ENSG00000197321 35 0 0 18 12 40 CCDC7 0 genome.wustl.edu 37 10 32740643 32740643 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 32740643 32740643 G - DEL CCDC7 ENST00000277657 human ensembl 74_37 +1 known frame_shift_del c.73 p.G25fs 0.000 NULL NULL - no_errors CCDC7 HGNC ENSG00000216937 70 0 0 37 14 27.451 ZNF248 0 genome.wustl.edu 37 10 38121593 38121593 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 38121593 38121593 A - DEL ZNF248 ENST00000357328 human ensembl 74_37 -1 known frame_shift_del c.690 p.F230fs 0.003 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF248 HGNC ENSG00000198105 72 0 0 28 16 36.3636 ZFAND4 0 genome.wustl.edu 37 10 46121400 46121400 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 46121400 46121400 A - DEL ZFAND4 ENST00000344646 human ensembl 74_37 -1 known frame_shift_del c.1871 p.L624fs 0.871 NULL pfam_Ubiquitin_dom,pfam_Znf_AN1,smart_Ubiquitin_dom,smart_Znf_AN1,pfscan_Znf_AN1,pfscan_Ubiquitin_supergroup,prints_Ubiquitin - no_errors ZFAND4 HGNC ENSG00000172671 95 0 0 40 8 16.6667 ENSG00000235939 0 genome.wustl.edu 37 10 50680934 50680934 + RNA DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 50680934 50680934 A - DEL ENSG00000235939 ENST00000423283 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-123B3.2 Clone_based_vega_gene ENSG00000235939 38 0 0 22 2 8.33333 HERC4 0 genome.wustl.edu 37 10 69716603 69716604 + RNA DEL AA AA - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 69716603 69716604 AA - DEL HERC4 ENST00000480158 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors HERC4 HGNC ENSG00000148634 51 0 0 22 9 29.0323 HNRNPH3 0 genome.wustl.edu 37 10 70097823 70097824 + RNA INS - - G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 70097823 70097824 - G INS HNRNPH3 ENST00000469172 human ensembl 74_37 +1 known rna NULL NULL 0.959:1.000 - - - no_errors HNRNPH3 HGNC ENSG00000096746 51 0 0 18 13 41.9355 COL13A1 0 genome.wustl.edu 37 10 71654444 71654444 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 71654444 71654444 A - DEL COL13A1 ENST00000356340 human ensembl 74_37 +1 known frame_shift_del c.617 p.G208fs 1.000 pfam_Collagen pfam_Collagen - no_errors COL13A1 HGNC ENSG00000197467 92 0 0 66 15 18.5185 PLAU 0 genome.wustl.edu 37 10 75673437 75673438 + Frame_Shift_Ins INS - - G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 75673437 75673438 - G INS PLAU ENST00000372764 human ensembl 74_37 +1 known frame_shift_ins c.601_602 p.S204fs 0.156:0.201 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_Kringle,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Kringle,smart_Peptidase_S1,pfscan_EG-like_dom,pfscan_Kringle,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors PLAU HGNC ENSG00000122861 173 0 0 119 49 29.1667 KIN 0 genome.wustl.edu 37 10 7801876 7801876 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 7801876 7801876 A - DEL KIN ENST00000379562 human ensembl 74_37 -1 known frame_shift_del c.1096 p.S366fs 1.000 NULL pfam_DNA/RNA-bd_Kin17_cons_domain - no_errors KIN HGNC ENSG00000151657 77 0 0 32 18 36 GATA3 0 genome.wustl.edu 37 10 8100728 8100728 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 8100728 8100728 C - DEL GATA3 ENST00000379328 human ensembl 74_37 +1 known frame_shift_del c.702 p.S237fs 1.000 pirsf_TF_GATA-1/2/3 pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA - no_errors GATA3 HGNC ENSG00000107485 107 0 0 47 22 31.8841 FAM35A 0 genome.wustl.edu 37 10 88911220 88911220 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 88911220 88911220 A - DEL FAM35A ENST00000298786 human ensembl 74_37 +1 known frame_shift_del c.109 p.I39fs 0.918 NULL NULL - no_errors FAM35A HGNC ENSG00000122376 52 0 0 22 11 33.3333 ENSG00000196566 0 genome.wustl.edu 37 10 89419662 89419663 + RNA INS - - GCC TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 89419662 89419663 - GCC INS ENSG00000196566 ENST00000354527 human ensembl 74_37 -1 known rna NULL NULL 0.001:0.003 - - - no_errors RP11-57C13.3 Clone_based_vega_gene ENSG00000196566 31 0 0 8 7 46.6667 SLC16A12 0 genome.wustl.edu 37 10 91203597 91203598 + Frame_Shift_Ins INS - - A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 91203597 91203598 - A INS SLC16A12 ENST00000371790 human ensembl 74_37 -1 known frame_shift_ins c.220_219 p.V73fs 1.000:1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A12 HGNC ENSG00000152779 36 0 0 16 9 36 KIF20B 0 genome.wustl.edu 37 10 91483748 91483748 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 91483748 91483748 A - DEL KIF20B ENST00000416354 human ensembl 74_37 +1 known frame_shift_del c.1750 p.K586fs 1.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF20B HGNC ENSG00000138182 78 0 0 48 11 18.6441 MYOF 0 genome.wustl.edu 37 10 95157026 95157026 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 95157026 95157026 T - DEL MYOF ENST00000359263 human ensembl 74_37 -1 known frame_shift_del c.1312 p.I438fs 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_dom,smart_C2_dom,smart_Peroxin/Ferlin,pfscan_C2_dom - no_errors MYOF HGNC ENSG00000138119 43 0 0 14 5 26.3158 ENSG00000228553 0 genome.wustl.edu 37 10 95987002 95987002 + RNA DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 95987002 95987002 A - DEL ENSG00000228553 ENST00000447227 human ensembl 74_37 -1 known rna NULL NULL 0.013 - - - no_errors RP11-391J2.3 Clone_based_vega_gene ENSG00000228553 31 0 0 13 12 48 HELLS 0 genome.wustl.edu 37 10 96352051 96352051 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 96352051 96352051 A - DEL HELLS ENST00000371332 human ensembl 74_37 +1 known frame_shift_del c.1971 p.R660fs 0.958 superfamily_P-loop_NTPase,pfscan_Helicase_C pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors HELLS HGNC ENSG00000119969 65 0 0 29 16 35.5556 TM9SF3 0 genome.wustl.edu 37 10 98287018 98287018 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 98287018 98287018 A - DEL TM9SF3 ENST00000371142 human ensembl 74_37 -1 known frame_shift_del c.1654 p.Y552fs 1.000 NULL pfam_EMP70 - no_errors TM9SF3 HGNC ENSG00000077147 46 0 0 23 6 20.6897 TM9SF3 0 genome.wustl.edu 37 10 98336475 98336475 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 10 98336475 98336475 T - DEL TM9SF3 ENST00000371142 human ensembl 74_37 -1 known frame_shift_del c.214 p.S72fs 1.000 pfam_EMP70 pfam_EMP70 - no_errors TM9SF3 HGNC ENSG00000077147 132 0 0 71 25 26.0417 CASP5 0 genome.wustl.edu 37 11 104874011 104874011 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 104874011 104874011 T - DEL CASP5 ENST00000393141 human ensembl 74_37 -1 known frame_shift_del c.572 p.N191fs 0.006 pirsf_Caspase_IL-1_beta pfam_Pept_C14_caspase,pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta,pfscan_CARD,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core - no_errors CASP5 HGNC ENSG00000137757 152 0 0 64 38 37.2549 CTR9 0 genome.wustl.edu 37 11 10776596 10776596 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 10776596 10776596 A - DEL CTR9 ENST00000361367 human ensembl 74_37 +1 known frame_shift_del c.236 p.D81fs 1.000 NULL pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CTR9 HGNC ENSG00000198730 155 0 0 61 42 40.7767 CUL5 0 genome.wustl.edu 37 11 107965658 107965658 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 107965658 107965658 A - DEL CUL5 ENST00000393094 human ensembl 74_37 +1 known frame_shift_del c.1687 p.N565fs 1.000 pfam_Cullin_N,superfamily_Cullin_homology,smart_Cullin_homology,pfscan_Cullin_homology pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL5 HGNC ENSG00000166266 68 0 0 32 8 20 ATM 0 genome.wustl.edu 37 11 108216477 108216477 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 108216477 108216477 A - DEL ATM ENST00000278616 human ensembl 74_37 +1 known frame_shift_del c.8426 p.K2811fs 1.000 pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,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 ATM HGNC ENSG00000149311 158 0 0 58 30 34.0909 ZBTB16 0 genome.wustl.edu 37 11 113934299 113934300 + Frame_Shift_Ins INS - - A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 113934299 113934300 - A INS ZBTB16 ENST00000335953 human ensembl 74_37 +1 known frame_shift_ins c.277_278 p.A94fs 1.000:1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB16 HGNC ENSG00000109906 70 0 0 39 15 27.7778 TTC36 0 genome.wustl.edu 37 11 118399370 118399370 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 118399370 118399370 G - DEL TTC36 ENST00000302783 human ensembl 74_37 +1 known frame_shift_del c.171 p.V59fs 1.000 smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC36 HGNC ENSG00000172425 86 0 0 49 25 33.7838 MFRP 0 genome.wustl.edu 37 11 119213688 119213688 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 119213688 119213688 G - DEL MFRP ENST00000449574 human ensembl 74_37 -1 known frame_shift_del c.1150 p.H384fs 0.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Frizzled_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_Frizzled_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,smart_Frizzled_dom,pfscan_CUB_dom,pfscan_Frizzled_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt - no_errors MFRP HGNC ENSG00000235718 18 0 0 10 8 44.4444 OAF 0 genome.wustl.edu 37 11 120097608 120097608 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 120097608 120097608 G - DEL OAF ENST00000328965 human ensembl 74_37 +1 known frame_shift_del c.450 p.A152fs 1.000 NULL NULL - no_errors OAF HGNC ENSG00000184232 69 0 0 35 32 47.7612 JAM3 0 genome.wustl.edu 37 11 134018468 134018468 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 134018468 134018468 G - DEL JAM3 ENST00000529443 human ensembl 74_37 +1 known frame_shift_del c.874 p.V294fs 0.989 NULL pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors JAM3 HGNC ENSG00000166086 95 0 0 42 14 25 BRSK2 0 genome.wustl.edu 37 11 1466880 1466880 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 1466880 1466880 C - DEL BRSK2 ENST00000382179 human ensembl 74_37 +1 known frame_shift_del c.1195 p.R401fs 1.000 superfamily_Kinase-like_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 BRSK2 HGNC ENSG00000174672 19 0 0 8 8 50 KRTAP5-1 0 genome.wustl.edu 37 11 1605922 1605923 + Frame_Shift_Ins INS - - C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 1605922 1605923 - C INS KRTAP5-1 ENST00000382171 human ensembl 74_37 -1 known frame_shift_ins c.558_557 p.C187fs 0.985:0.441 NULL NULL - no_errors KRTAP5-1 HGNC ENSG00000205869 115 0 0 169 12 6.62983 SOX6 0 genome.wustl.edu 37 11 16339955 16339955 + RNA DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 16339955 16339955 A - DEL SOX6 ENST00000533658 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors SOX6 HGNC ENSG00000110693 69 0 0 54 15 21.7391 KCNC1 0 genome.wustl.edu 37 11 17794004 17794004 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 17794004 17794004 A - DEL KCNC1 ENST00000265969 human ensembl 74_37 +1 known frame_shift_del c.1363 p.K457fs 1.000 prints_K_chnl_volt-dep_Kv3 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_Kv3,prints_K_chnl_volt-dep_Kv3.1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9 - no_errors KCNC1 HGNC ENSG00000129159 106 0 0 56 32 36.3636 TRPM5 0 genome.wustl.edu 37 11 2444209 2444209 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 2444209 2444209 C - DEL TRPM5 ENST00000452833 human ensembl 74_37 -1 known frame_shift_del c.58 p.E20fs 0.006 NULL superfamily_Ankyrin_rpt-contain_dom - no_errors TRPM5 HGNC ENSG00000070985 106 0 0 80 6 6.97674 SIGIRR 0 genome.wustl.edu 37 11 406540 406541 + Splice_Site INS - - G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 406540 406541 - G INS SIGIRR ENST00000382520 human ensembl 74_37 -1 known splice_site_ins c.880-3_880-2 e8-2 0.953:0.630 - - - no_errors SIGIRR HGNC ENSG00000185187 71 0 0 35 16 31.3725 HNRNPKP3 0 genome.wustl.edu 37 11 43283606 43283607 + RNA DEL AA AA - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 43283606 43283607 AA - DEL HNRNPKP3 ENST00000511537 human ensembl 74_37 -1 known rna NULL NULL 0.986:0.995 - - - no_errors HNRNPKP3 HGNC ENSG00000251557 10 0 0 4 11 73.3333 GYLTL1B 0 genome.wustl.edu 37 11 45948373 45948373 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 45948373 45948373 C - DEL GYLTL1B ENST00000325468 human ensembl 74_37 +1 known frame_shift_del c.1276 p.R428fs 0.023 NULL pfam_Glyco_trans_8 - no_errors GYLTL1B HGNC ENSG00000165905 93 0 0 55 28 33.7349 LRP4 0 genome.wustl.edu 37 11 46880747 46880748 + Frame_Shift_Ins INS - - C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 46880747 46880748 - C INS LRP4 ENST00000378623 human ensembl 74_37 -1 known frame_shift_ins c.5505_5504 p.L1836fs 1.000:1.000 NULL pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP4 HGNC ENSG00000134569 106 0 0 70 32 31.3725 LRP4 0 genome.wustl.edu 37 11 46920202 46920202 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 46920202 46920202 C - DEL LRP4 ENST00000378623 human ensembl 74_37 -1 known frame_shift_del c.703 p.E235fs 1.000 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP4 HGNC ENSG00000134569 274 0 0 173 47 21.3636 OR51E2 0 genome.wustl.edu 37 11 4703475 4703475 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 4703475 4703475 A - DEL OR51E2 ENST00000396950 human ensembl 74_37 -1 known frame_shift_del c.467 p.F156fs 0.027 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51E2 HGNC ENSG00000167332 89 0 0 56 35 38.4615 ARFGAP2 0 genome.wustl.edu 37 11 47196853 47196853 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 47196853 47196853 A - DEL ARFGAP2 ENST00000524782 human ensembl 74_37 -1 known frame_shift_del c.276 p.R93fs 1.000 pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP - no_errors ARFGAP2 HGNC ENSG00000149182 101 0 0 56 83 59.7122 AGBL2 0 genome.wustl.edu 37 11 47689211 47689211 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 47689211 47689211 T - DEL AGBL2 ENST00000357610 human ensembl 74_37 -1 known frame_shift_del c.2258 p.K753fs 1.000 NULL pfam_Peptidase_M14 - no_errors AGBL2 HGNC ENSG00000165923 75 0 0 15 14 48.2759 FNBP4 0 genome.wustl.edu 37 11 47746087 47746087 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 47746087 47746087 G - DEL FNBP4 ENST00000263773 human ensembl 74_37 -1 known frame_shift_del c.2252 p.P751fs 1.000 NULL pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom - no_errors FNBP4 HGNC ENSG00000109920 242 0 0 126 62 32.9787 ENSG00000254815 0 genome.wustl.edu 37 11 558069 558069 + RNA DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 558069 558069 G - DEL ENSG00000254815 ENST00000527620 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-496I9.1 Clone_based_vega_gene ENSG00000254815 58 0 0 30 16 34.7826 OR5M3 0 genome.wustl.edu 37 11 56237709 56237709 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 56237709 56237709 T - DEL OR5M3 ENST00000312240 human ensembl 74_37 -1 known frame_shift_del c.265 p.T89fs 0.002 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5M3 HGNC ENSG00000174937 143 0 0 61 26 29.8851 OR5M8 0 genome.wustl.edu 37 11 56258665 56258665 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 56258665 56258665 A - DEL OR5M8 ENST00000327216 human ensembl 74_37 -1 known frame_shift_del c.182 p.F61fs 0.870 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 OR5M8 HGNC ENSG00000181371 137 0 0 88 46 34.3284 TRIM5 0 genome.wustl.edu 37 11 5687321 5687323 + Splice_Site DEL AAA AAA - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 5687321 5687323 AAA - DEL TRIM5 ENST00000305836 human ensembl 74_37 -1 known splice_site_del c.760-4_760-2 e5-2 0.002:0.005:0.007 - - - no_errors TRIM5 HGNC ENSG00000132256 42 0 0 11 7 38.8889 LRRC55 0 genome.wustl.edu 37 11 56949609 56949610 + Frame_Shift_Ins INS - - C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 56949609 56949610 - C INS LRRC55 ENST00000497933 human ensembl 74_37 +1 known frame_shift_ins c.242_243 p.V83fs 1.000:1.000 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,smart_Cys-rich_flank_reg_C - no_errors LRRC55 HGNC ENSG00000183908 71 0 0 55 28 33.7349 P2RX3 0 genome.wustl.edu 37 11 57116158 57116158 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 57116158 57116158 C - DEL P2RX3 ENST00000263314 human ensembl 74_37 +1 known frame_shift_del c.543 p.L183fs 0.999 pfam_P2X_purnocptor,tigrfam_P2X_purnocptor pfam_P2X_purnocptor,prints_P2X3_purnocptor,prints_P2X_purnocptor,tigrfam_P2X_purnocptor - no_errors P2RX3 HGNC ENSG00000109991 108 0 0 54 23 29.8701 LGALS12 0 genome.wustl.edu 37 11 63283775 63283775 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 63283775 63283775 G - DEL LGALS12 ENST00000340246 human ensembl 74_37 +1 known frame_shift_del c.924 p.A310fs 0.518 pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD - no_errors LGALS12 HGNC ENSG00000133317 97 0 0 42 25 37.3134 RTN3 0 genome.wustl.edu 37 11 63525656 63525656 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 63525656 63525656 A - DEL RTN3 ENST00000377819 human ensembl 74_37 +1 known frame_shift_del c.3082 p.K1030fs 1.000 pfscan_Reticulon pfam_Reticulon,pfscan_Reticulon - no_errors RTN3 HGNC ENSG00000133318 52 0 0 33 7 17.5 RPS6KA4 0 genome.wustl.edu 37 11 64132922 64132922 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 64132922 64132922 C - DEL RPS6KA4 ENST00000334205 human ensembl 74_37 +1 known frame_shift_del c.1056 p.R354fs 0.995 pfam_Pkinase_C,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom - no_errors RPS6KA4 HGNC ENSG00000162302 56 0 0 32 5 13.5135 PYGM 0 genome.wustl.edu 37 11 64520597 64520597 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 64520597 64520597 G - DEL PYGM ENST00000164139 human ensembl 74_37 -1 known frame_shift_del c.1466 p.P489fs 1.000 pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas - no_errors PYGM HGNC ENSG00000068976 480 0 0 285 119 29.4554 SLC25A45 0 genome.wustl.edu 37 11 65144465 65144465 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 65144465 65144465 G - DEL SLC25A45 ENST00000398802 human ensembl 74_37 -1 known frame_shift_del c.422 p.P141fs 0.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A45 HGNC ENSG00000162241 72 0 0 33 23 41.0714 CTSW 0 genome.wustl.edu 37 11 65650873 65650873 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 65650873 65650873 G - DEL CTSW ENST00000307886 human ensembl 74_37 +1 known frame_shift_del c.998 p.A335fs 1.000 pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C - no_errors CTSW HGNC ENSG00000172543 160 0 0 94 56 37.3333 SF3B2 0 genome.wustl.edu 37 11 65836146 65836146 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 65836146 65836146 A - DEL SF3B2 ENST00000322535 human ensembl 74_37 +1 known frame_shift_del c.2618 p.K875fs 1.000 NULL pfam_DUF382,pfam_PSP,pfam_SAP_dom,smart_SAP_dom,smart_PSP,pfscan_SAP_dom - no_errors SF3B2 HGNC ENSG00000087365 94 0 0 42 19 31.1475 KLC2 0 genome.wustl.edu 37 11 66033664 66033664 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 66033664 66033664 C - DEL KLC2 ENST00000316924 human ensembl 74_37 +1 known frame_shift_del c.1703 p.Q570fs 0.984 NULL pfam_Rabaptin_Rab5-bd_dom,pfam_TPR_1,smart_TPR_repeat,prints_Kinesin_light,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors KLC2 HGNC ENSG00000174996 65 0 0 37 11 22.9167 ENSG00000245156 0 genome.wustl.edu 37 11 66039143 66039143 + RNA DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 66039143 66039143 A - DEL ENSG00000245156 ENST00000501708 human ensembl 74_37 -1 known rna NULL NULL 0.020 - - - no_errors RP11-867G23.3 Clone_based_vega_gene ENSG00000245156 13 0 0 4 4 50 TPP1 0 genome.wustl.edu 37 11 6636152 6636152 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 6636152 6636152 G - DEL TPP1 ENST00000299427 human ensembl 74_37 -1 known frame_shift_del c.1496 p.P499fs 0.998 superfamily_Peptidase_S8/S53_dom pfam_Peptidase_S53_propep,pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom,superfamily_Prot_inh_propept,smart_Peptidase_S53_propep - no_errors TPP1 HGNC ENSG00000166340 307 0 0 176 99 36 PC 0 genome.wustl.edu 37 11 66617432 66617432 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 66617432 66617432 C - DEL PC ENST00000393958 human ensembl 74_37 -1 known frame_shift_del c.2874 p.F959fs 0.230 pfam_Carboxylase_cons_dom,pirsf_Pyruv_COase,tigrfam_Pyruv_COase pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_Carboxylase_cons_dom,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_PYR_CT,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pirsf_Pyruv_COase,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_PYR_CT,pfscan_Biotin_lipoyl,tigrfam_Pyruv_COase - no_errors PC HGNC ENSG00000173599 87 0 0 50 35 41.1765 LRFN4 0 genome.wustl.edu 37 11 66627324 66627324 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 66627324 66627324 G - DEL LRFN4 ENST00000309602 human ensembl 74_37 +1 known frame_shift_del c.1566 p.G524fs 0.998 NULL pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRFN4 HGNC ENSG00000173621 28 0 0 18 11 37.931 C2CD3 0 genome.wustl.edu 37 11 73829364 73829364 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 73829364 73829364 T - DEL C2CD3 ENST00000334126 human ensembl 74_37 -1 known frame_shift_del c.1429 p.I477fs 0.966 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom - no_errors C2CD3 HGNC ENSG00000168014 111 0 0 35 25 41.6667 POLD3 0 genome.wustl.edu 37 11 74336575 74336575 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 74336575 74336575 A - DEL POLD3 ENST00000263681 human ensembl 74_37 +1 known frame_shift_del c.856 p.A288fs 0.999 pfam_DNA_polymerase_subunit_Cdc27 pfam_DNA_polymerase_subunit_Cdc27 - no_errors POLD3 HGNC ENSG00000077514 46 0 0 33 15 31.25 USP35 0 genome.wustl.edu 37 11 77920856 77920856 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 77920856 77920856 C - DEL USP35 ENST00000529308 human ensembl 74_37 +1 known frame_shift_del c.1955 p.T655fs 0.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67 - no_errors USP35 HGNC ENSG00000118369 36 0 0 21 11 34.375 ENSG00000254420 0 genome.wustl.edu 37 11 78154811 78154812 + RNA DEL AA AA - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 78154811 78154812 AA - DEL ENSG00000254420 ENST00000534168 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.006 - - - no_errors RP11-452H21.1 Clone_based_vega_gene ENSG00000254420 52 0 0 23 21 47.7273 OR10A6 0 genome.wustl.edu 37 11 7949596 7949596 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 7949596 7949596 A - DEL OR10A6 ENST00000309838 human ensembl 74_37 -1 known frame_shift_del c.614 p.L205fs 0.982 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10A6 HGNC ENSG00000175393 75 0 0 49 8 14.0351 ST5 0 genome.wustl.edu 37 11 8751798 8751798 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 8751798 8751798 C - DEL ST5 ENST00000313726 human ensembl 74_37 -1 known frame_shift_del c.1039 p.E347fs 1.000 NULL pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors ST5 HGNC ENSG00000166444 105 0 0 124 8 6.06061 SWAP70 0 genome.wustl.edu 37 11 9771475 9771476 + Frame_Shift_Del DEL AG AG - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 9771475 9771476 AG - DEL SWAP70 ENST00000318950 human ensembl 74_37 +1 known frame_shift_del c.1716_1717 p.K576fs 0.738:0.782 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_EF_hand_dom,pfscan_Pleckstrin_homology - no_errors SWAP70 HGNC ENSG00000133789 66 0 0 50 14 21.875 CNTN5 0 genome.wustl.edu 37 11 99715605 99715605 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 11 99715605 99715605 T - DEL CNTN5 ENST00000279463 human ensembl 74_37 +1 known frame_shift_del c.299 p.F101fs 1.000 pfam_Ig_I-set,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN5 HGNC ENSG00000149972 65 0 0 44 12 21.4286 KLRK1 0 genome.wustl.edu 37 12 10532376 10532376 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 10532376 10532376 A - DEL KLRK1 ENST00000240618 human ensembl 74_37 -1 known frame_shift_del c.164 p.F55fs 0.002 pfam_Herpes_UL45-like pfam_C-type_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII - no_errors KLRK1 HGNC ENSG00000213809 57 0 0 25 9 26.4706 BTBD11 0 genome.wustl.edu 37 12 107937778 107937778 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 107937778 107937778 C - DEL BTBD11 ENST00000280758 human ensembl 74_37 +1 known frame_shift_del c.1352 p.L453fs 1.000 NULL pfam_Ankyrin_rpt,pfam_BTB_POZ,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,superfamily_Histone-fold,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like - no_errors BTBD11 HGNC ENSG00000151136 46 0 0 34 23 40.3509 MED13L 0 genome.wustl.edu 37 12 116457653 116457653 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 116457653 116457653 T - DEL MED13L ENST00000281928 human ensembl 74_37 -1 known frame_shift_del c.750 p.E251fs 0.998 pfam_Mediator_Med13_N_met/fun pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun - no_errors MED13L HGNC ENSG00000123066 101 0 0 35 19 35.1852 ETV6 0 genome.wustl.edu 37 12 11803022 11803022 + RNA DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 11803022 11803022 A - DEL ETV6 ENST00000541426 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors ETV6 HGNC ENSG00000139083 113 0 0 84 39 31.7073 PEBP1 0 genome.wustl.edu 37 12 118582700 118582701 + RNA INS - - C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 118582700 118582701 - C INS PEBP1 ENST00000542939 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors PEBP1 HGNC ENSG00000089220 22 0 0 15 3 16.6667 DYNLL1 0 genome.wustl.edu 37 12 120935792 120935792 + RNA DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 120935792 120935792 C - DEL DYNLL1 ENST00000552316 human ensembl 74_37 +1 putative rna NULL NULL 0.001 - - - no_errors DYNLL1 HGNC ENSG00000088986 12 0 0 5 5 50 RNF10 0 genome.wustl.edu 37 12 121014514 121014514 + RNA DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 121014514 121014514 T - DEL RNF10 ENST00000535470 human ensembl 74_37 +1 known rna NULL NULL 0.011 - - - no_errors RNF10 HGNC ENSG00000022840 106 1 0.934579 54 18 25 LRRC43 0 genome.wustl.edu 37 12 122685346 122685346 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 122685346 122685346 C - DEL LRRC43 ENST00000339777 human ensembl 74_37 +1 known frame_shift_del c.1674 p.I561fs 0.997 NULL NULL - no_errors LRRC43 HGNC ENSG00000158113 90 0 0 46 23 33.3333 KNTC1 0 genome.wustl.edu 37 12 123052858 123052858 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 123052858 123052858 T - DEL KNTC1 ENST00000333479 human ensembl 74_37 +1 known frame_shift_del c.1655 p.L554fs 1.000 NULL pfam_RZZ-complex_KNTC1/ROD_C,superfamily_Quino_amine_DH_bsu,superfamily_WD40_repeat_dom,superfamily_PAH - no_errors KNTC1 HGNC ENSG00000184445 180 1 0.552486 107 29 21.3235 ARL6IP4 0 genome.wustl.edu 37 12 123467067 123467068 + Frame_Shift_Del DEL AC AC - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 AC AC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 123467067 123467068 AC - DEL ARL6IP4 ENST00000315580 human ensembl 74_37 +1 known frame_shift_del c.1008_1009 p.H337fs 0.844:0.998 pfam_Nucl_RNA-splicing_assoc_SR-25 pfam_Nucl_RNA-splicing_assoc_SR-25 - no_errors ARL6IP4 HGNC ENSG00000182196 59 0 0 35 20 36.3636 C12orf65 0 genome.wustl.edu 37 12 123741526 123741526 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 123741526 123741526 A - DEL C12orf65 ENST00000253233 human ensembl 74_37 +1 known frame_shift_del c.449 p.K152fs 0.997 NULL pfam_Pep_chain_release_fac_I_II - no_errors C12orf65 HGNC ENSG00000130921 49 0 0 40 6 13.0435 SNRNP35 0 genome.wustl.edu 37 12 123950525 123950525 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 123950525 123950525 A - DEL SNRNP35 ENST00000412157 human ensembl 74_37 +1 known frame_shift_del c.453 p.K153fs 0.028 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SNRNP35 HGNC ENSG00000184209 140 0 0 109 46 29.6774 CCDC92 0 genome.wustl.edu 37 12 124421800 124421800 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 124421800 124421800 G - DEL CCDC92 ENST00000238156 human ensembl 74_37 -1 known frame_shift_del c.801 p.I268fs 1.000 NULL NULL - no_errors CCDC92 HGNC ENSG00000119242 89 0 0 53 5 8.62069 DDX51 0 genome.wustl.edu 37 12 132624667 132624668 + Frame_Shift_Ins INS - - G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 132624667 132624668 - G INS DDX51 ENST00000397333 human ensembl 74_37 -1 known frame_shift_ins c.1751_1750 p.Q584fs 1.000:1.000 pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX51 HGNC ENSG00000185163 137 0 0 108 19 14.9606 PLEKHA5 0 genome.wustl.edu 37 12 19460408 19460408 + RNA DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 19460408 19460408 A - DEL PLEKHA5 ENST00000510738 human ensembl 74_37 +1 known rna NULL NULL 0.931 - - - no_errors PLEKHA5 HGNC ENSG00000052126 36 0 0 18 19 51.3514 RECQL 0 genome.wustl.edu 37 12 21644547 21644547 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 21644547 21644547 T - DEL RECQL ENST00000421138 human ensembl 74_37 -1 known frame_shift_del c.120 p.V41fs 0.001 NULL pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_RQC_domain,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors RECQL HGNC ENSG00000004700 59 0 0 20 12 37.5 ITPR2 0 genome.wustl.edu 37 12 26568292 26568292 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 26568292 26568292 A - DEL ITPR2 ENST00000381340 human ensembl 74_37 -1 known frame_shift_del c.7250 p.L2417fs 1.000 pfam_Ion_trans_dom pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR2 HGNC ENSG00000123104 127 1 0.78125 74 38 33.9286 ENSG00000257042 0 genome.wustl.edu 37 12 28122537 28122537 + RNA DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 28122537 28122537 A - DEL ENSG00000257042 ENST00000538113 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-993B23.3 Clone_based_vega_gene ENSG00000257042 18 0 0 13 9 40.9091 TULP3 0 genome.wustl.edu 37 12 3040387 3040387 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 3040387 3040387 A - DEL TULP3 ENST00000448120 human ensembl 74_37 +1 known frame_shift_del c.677 p.E228fs 1.000 pfam_Tubby_C,superfamily_Tubby_C-like pfam_Tubby_C,superfamily_Tubby_C-like,prints_Tubby_C,prints_Tubby_N - no_errors TULP3 HGNC ENSG00000078246 74 0 0 31 8 20.5128 CAPRIN2 0 genome.wustl.edu 37 12 30881696 30881696 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 30881696 30881696 T - DEL CAPRIN2 ENST00000251071 human ensembl 74_37 -1 known frame_shift_del c.1668 p.K556fs 0.010 NULL pfam_Caprin-1_C,pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors CAPRIN2 HGNC ENSG00000110888 163 0 0 113 10 8.13008 KIF21A 0 genome.wustl.edu 37 12 39720130 39720131 + Frame_Shift_Ins INS - - A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 39720130 39720131 - A INS KIF21A ENST00000395670 human ensembl 74_37 -1 known frame_shift_ins c.3337_3336 p.V1112fs 0.035:0.242 NULL pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_P-loop_NTPase,superfamily_WD40_repeat_dom,superfamily_Prefoldin,superfamily_ARM-type_fold,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom - no_errors KIF21A HGNC ENSG00000139116 38 0 0 9 6 40 NDUFA9 0 genome.wustl.edu 37 12 4794302 4794303 + Frame_Shift_Del DEL AA AA - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 4794302 4794303 AA - DEL NDUFA9 ENST00000540688 human ensembl 74_37 +1 putative frame_shift_del c.51_52 p.N21fs 0.000:0.000 NULL NULL - no_errors NDUFA9 HGNC ENSG00000139180 18 0 0 1 4 80 GALNT8 0 genome.wustl.edu 37 12 4829850 4829850 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 4829850 4829850 T - DEL GALNT8 ENST00000252318 human ensembl 74_37 +1 known frame_shift_del c.7 p.W4fs 0.000 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT8 HGNC ENSG00000130035 104 0 0 44 25 36.2319 WNT1 0 genome.wustl.edu 37 12 49374348 49374348 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 49374348 49374348 G - DEL WNT1 ENST00000293549 human ensembl 74_37 +1 known frame_shift_del c.500 p.G169fs 1.000 pfam_Wnt,smart_Wnt,prints_Wnt pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt1 - no_errors WNT1 HGNC ENSG00000125084 20 0 0 25 8 24.2424 ENSG00000257913 0 genome.wustl.edu 37 12 49412461 49412461 + RNA DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 49412461 49412461 G - DEL ENSG00000257913 ENST00000547395 human ensembl 74_37 +1 known rna NULL NULL 0.377 - - - no_errors RP11-386G11.5 Clone_based_vega_gene ENSG00000257913 109 0 0 76 48 38.7097 KMT2D 0 genome.wustl.edu 37 12 49434492 49434492 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 49434492 49434492 G - DEL KMT2D ENST00000301067 human ensembl 74_37 -1 known frame_shift_del c.7061 p.P2354fs 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2D HGNC ENSG00000167548 62 0 0 35 10 22.2222 POU6F1 0 genome.wustl.edu 37 12 51589812 51589812 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 51589812 51589812 G - DEL POU6F1 ENST00000333640 human ensembl 74_37 -1 known frame_shift_del c.190 p.L64fs 1.000 NULL pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU6F1 HGNC ENSG00000184271 19 0 0 31 2 6.06061 GPR84 0 genome.wustl.edu 37 12 54757553 54757553 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 54757553 54757553 A - DEL GPR84 ENST00000267015 human ensembl 74_37 -1 known frame_shift_del c.83 p.V28fs 0.003 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR84 HGNC ENSG00000139572 53 0 0 40 6 13.0435 OR9K2 0 genome.wustl.edu 37 12 55524393 55524393 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 55524393 55524393 T - DEL OR9K2 ENST00000305377 human ensembl 74_37 +1 known frame_shift_del c.841 p.F282fs 0.585 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR9K2 HGNC ENSG00000170605 200 0 0 73 37 33.6364 IKZF4 0 genome.wustl.edu 37 12 56418877 56418877 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 56418877 56418877 C - DEL IKZF4 ENST00000262032 human ensembl 74_37 +1 known frame_shift_del c.221 p.P75fs 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors IKZF4 HGNC ENSG00000123411 10 0 0 7 6 46.1538 STAT2 0 genome.wustl.edu 37 12 56744034 56744035 + RNA DEL AA AA - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 56744034 56744035 AA - DEL STAT2 ENST00000557252 human ensembl 74_37 -1 known rna NULL NULL 0.040:0.013 - - - no_errors STAT2 HGNC ENSG00000170581 58 0 0 38 13 25.4902 MYO1A 0 genome.wustl.edu 37 12 57422573 57422573 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 57422573 57422573 T - DEL MYO1A ENST00000300119 human ensembl 74_37 -1 known frame_shift_del c.3098 p.K1033fs 1.000 pfam_Myosin_tail_2 pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS - no_errors MYO1A HGNC ENSG00000166866 137 0 0 64 40 38.4615 MBD6 0 genome.wustl.edu 37 12 57919294 57919295 + Frame_Shift_Ins INS - - G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 57919294 57919295 - G INS MBD6 ENST00000355673 human ensembl 74_37 +1 known frame_shift_ins c.543_544 p.L183fs 1.000:1.000 NULL superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd - no_errors MBD6 HGNC ENSG00000166987 224 0 0 96 40 29.4118 MBD6 0 genome.wustl.edu 37 12 57921401 57921401 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 57921401 57921401 C - DEL MBD6 ENST00000355673 human ensembl 74_37 +1 known frame_shift_del c.2194 p.Q734fs 1.000 NULL superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd - no_errors MBD6 HGNC ENSG00000166987 223 0 0 116 57 32.948 VWF 0 genome.wustl.edu 37 12 6153464 6153464 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 6153464 6153464 G - DEL VWF ENST00000261405 human ensembl 74_37 -1 known frame_shift_del c.2435 p.P812fs 0.703 pirsf_VWF,pfam_TIL_dom,superfamily_TIL_dom pirsf_VWF,pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C - no_errors VWF HGNC ENSG00000110799 63 0 0 47 10 17.5439 TMBIM4 0 genome.wustl.edu 37 12 66531937 66531937 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 66531937 66531937 A - DEL TMBIM4 ENST00000358230 human ensembl 74_37 -1 known frame_shift_del c.520 p.Y174fs 0.028 pfam_Bax_inhibitor_1-related pfam_Bax_inhibitor_1-related - no_errors TMBIM4 HGNC ENSG00000155957 39 0 0 35 10 22.2222 CHD4 0 genome.wustl.edu 37 12 6701672 6701672 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 6701672 6701672 T - DEL CHD4 ENST00000309577 human ensembl 74_37 -1 known frame_shift_del c.2835 p.K945fs 1.000 pfam_SNF2_N,superfamily_P-loop_NTPase pfam_CHD_C2,pfam_DUF1086,pfam_SNF2_N,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,superfamily_Homeodomain-like,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD4 HGNC ENSG00000111642 149 0 0 68 34 33.3333 NUP107 0 genome.wustl.edu 37 12 69126366 69126366 + RNA DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 69126366 69126366 A - DEL NUP107 ENST00000401003 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors NUP107 HGNC ENSG00000111581 19 0 0 5 6 54.5455 ZFC3H1 0 genome.wustl.edu 37 12 72038781 72038781 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 72038781 72038781 T - DEL ZFC3H1 ENST00000378743 human ensembl 74_37 -1 known frame_shift_del c.1155 p.K385fs 1.000 NULL pfam_Putative_zinc-finger_domain,smart_HAT,pfscan_TPR-contain_dom - no_errors ZFC3H1 HGNC ENSG00000133858 49 0 0 21 8 27.5862 C1RL 0 genome.wustl.edu 37 12 7249400 7249400 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 7249400 7249400 G - DEL C1RL ENST00000266542 human ensembl 74_37 -1 known frame_shift_del c.1051 p.L351fs 0.908 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_CUB_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Peptidase_S1,pfscan_CUB_dom,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors C1RL HGNC ENSG00000139178 85 0 0 73 7 8.75 E2F7 0 genome.wustl.edu 37 12 77449827 77449827 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 12 77449827 77449827 T - DEL E2F7 ENST00000322886 human ensembl 74_37 -1 known frame_shift_del c.177 p.K59fs 0.976 NULL pfam_E2F_TDP - no_errors E2F7 HGNC ENSG00000165891 124 0 0 72 41 36.2832 ARHGEF7 0 genome.wustl.edu 37 13 111767934 111767934 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 13 111767934 111767934 A - DEL ARHGEF7 ENST00000375741 human ensembl 74_37 +1 known frame_shift_del c.61 p.T23fs 1.000 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_DH-domain,pfam_SH3_2,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_CH-domain,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain - no_errors ARHGEF7 HGNC ENSG00000102606 26 0 0 45 16 26.2295 UPF3A 0 genome.wustl.edu 37 13 115057211 115057211 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 13 115057211 115057211 A - DEL UPF3A ENST00000375299 human ensembl 74_37 +1 known frame_shift_del c.790 p.E267fs 0.943 NULL pfam_Nonsense_mediated_decay_UPF3 - no_errors UPF3A HGNC ENSG00000169062 29 0 0 9 8 47.0588 LATS2 0 genome.wustl.edu 37 13 21563349 21563349 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 13 21563349 21563349 G - DEL LATS2 ENST00000382592 human ensembl 74_37 -1 known frame_shift_del c.570 p.Y191fs 0.661 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom - no_errors LATS2 HGNC ENSG00000150457 143 0 0 93 23 19.8276 ATP12A 0 genome.wustl.edu 37 13 25262564 25262564 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 13 25262564 25262564 G - DEL ATP12A ENST00000218548 human ensembl 74_37 +1 known frame_shift_del c.336 p.F115fs 1.000 pfam_ATPase_P-typ_cation-transptr_N,smart_ATPase_P-typ_cation-transptr_N,tigrfam_ATPase_P-typ_Na/K_IIC pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP12A HGNC ENSG00000075673 519 0 0 290 168 36.6812 ATP8A2 0 genome.wustl.edu 37 13 26436484 26436484 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 13 26436484 26436484 T - DEL ATP8A2 ENST00000381655 human ensembl 74_37 +1 known frame_shift_del c.3121 p.F1042fs 1.000 tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP8A2 HGNC ENSG00000132932 85 0 0 48 16 25 PDX1 0 genome.wustl.edu 37 13 28498713 28498713 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 13 28498713 28498713 C - DEL PDX1 ENST00000381033 human ensembl 74_37 +1 known frame_shift_del c.727 p.G245fs 0.739 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_Homeobox_antennapedia - no_errors PDX1 HGNC ENSG00000139515 10 0 0 12 3 20 PDS5B 0 genome.wustl.edu 37 13 33344580 33344580 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 13 33344580 33344580 A - DEL PDS5B ENST00000315596 human ensembl 74_37 +1 known frame_shift_del c.3946 p.K1318fs 1.000 NULL superfamily_ARM-type_fold - no_errors PDS5B HGNC ENSG00000083642 55 0 0 33 23 41.0714 PDS5B 0 genome.wustl.edu 37 13 33344580 33344581 + Frame_Shift_Del DEL AA AA - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 13 33344580 33344581 AA - DEL PDS5B ENST00000315596 human ensembl 74_37 +1 known frame_shift_del c.3946_3947 p.K1318fs 1.000:1.000 NULL superfamily_ARM-type_fold - no_errors PDS5B HGNC ENSG00000083642 54 0 0 43 12 21.8182 KL 0 genome.wustl.edu 37 13 33635594 33635594 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 13 33635594 33635594 A - DEL KL ENST00000380099 human ensembl 74_37 +1 known frame_shift_del c.2378 p.K795fs 0.994 pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 - no_errors KL HGNC ENSG00000133116 62 0 0 19 10 34.4828 SPG20 0 genome.wustl.edu 37 13 36909272 36909272 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 13 36909272 36909272 A - DEL SPG20 ENST00000355182 human ensembl 74_37 -1 known frame_shift_del c.696 p.F232fs 1.000 NULL pfam_Senescence/spartin,pfam_MIT,smart_MIT - no_errors SPG20 HGNC ENSG00000133104 129 0 0 72 9 11.1111 EBPL 0 genome.wustl.edu 37 13 50235209 50235209 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 13 50235209 50235209 A - DEL EBPL ENST00000242827 human ensembl 74_37 -1 known frame_shift_del c.516 p.F172fs 0.997 pfam_EBP pfam_EBP - no_errors EBPL HGNC ENSG00000123179 59 0 0 37 33 47.1429 DLEU2 0 genome.wustl.edu 37 13 50623343 50623343 + RNA DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 13 50623343 50623343 T - DEL DLEU2 ENST00000421758 human ensembl 74_37 -1 known rna NULL NULL 0.005 - - - no_errors DLEU2 HGNC ENSG00000231607 24 0 0 6 4 40 VPS36 0 genome.wustl.edu 37 13 52990249 52990249 + RNA DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 13 52990249 52990249 A - DEL VPS36 ENST00000462289 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors VPS36 HGNC ENSG00000136100 71 0 0 22 16 42.1053 DIAPH3 0 genome.wustl.edu 37 13 60582734 60582734 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 13 60582734 60582734 T - DEL DIAPH3 ENST00000400324 human ensembl 74_37 -1 known frame_shift_del c.958 p.I320fs 0.329 pfam_FH3_dom,superfamily_ARM-type_fold pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_Drf_DAD,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors DIAPH3 HGNC ENSG00000139734 148 0 0 68 29 29.8969 DACH1 0 genome.wustl.edu 37 13 72204774 72204775 + Frame_Shift_Ins INS - - T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 13 72204774 72204775 - T INS DACH1 ENST00000359684 human ensembl 74_37 -1 known frame_shift_ins c.1046_1045 p.I349fs 1.000:1.000 NULL pfam_Transform_Ski,superfamily_DNA-bd_dom_put - no_errors DACH1 HGNC ENSG00000165659 230 0 0 96 37 27.8195 TBC1D4 0 genome.wustl.edu 37 13 75898394 75898394 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 13 75898394 75898394 G - DEL TBC1D4 ENST00000377636 human ensembl 74_37 -1 known frame_shift_del c.2177 p.P726fs 1.000 NULL pfam_Rab-GTPase-TBC_dom,pfam_DUF3350,pfam_PTB/PI_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTB/PI_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTB/PI_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D4 HGNC ENSG00000136111 96 0 0 39 20 33.8983 LMO7 0 genome.wustl.edu 37 13 76432182 76432183 + RNA INS - - A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 13 76432182 76432183 - A INS LMO7 ENST00000605961 human ensembl 74_37 +1 known rna NULL NULL 0.669:0.209 - - - no_errors LMO7 HGNC ENSG00000136153 19 0 0 9 11 55 ABCC4 0 genome.wustl.edu 37 13 95696016 95696016 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 13 95696016 95696016 T - DEL ABCC4 ENST00000376887 human ensembl 74_37 -1 known frame_shift_del c.3655 p.I1219fs 1.000 superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_CysFib_conduc_TM - no_errors ABCC4 HGNC ENSG00000125257 83 0 0 46 21 31.3433 ENSG00000258851 0 genome.wustl.edu 37 14 104028197 104028197 + RNA DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 14 104028197 104028197 A - DEL ENSG00000258851 ENST00000556332 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors RP11-894P9.2 Clone_based_vega_gene ENSG00000258851 38 0 0 19 6 24 PPP1R13B 0 genome.wustl.edu 37 14 104208418 104208418 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 14 104208418 104208418 G - DEL PPP1R13B ENST00000202556 human ensembl 74_37 -1 known frame_shift_del c.1531 p.Q511fs 0.045 NULL pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SH3_domain,prints_SH3_domain - no_errors PPP1R13B HGNC ENSG00000088808 165 0 0 156 11 6.58683 INF2 0 genome.wustl.edu 37 14 105174185 105174185 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 14 105174185 105174185 C - DEL INF2 ENST00000392634 human ensembl 74_37 +1 known frame_shift_del c.1581 p.V530fs 0.011 NULL pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_WH2_dom,superfamily_ARM-type_fold,smart_FH2_Formin,pfscan_WH2_dom - no_errors INF2 HGNC ENSG00000203485 23 0 0 18 13 41.9355 INF2 0 genome.wustl.edu 37 14 105174896 105174896 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 14 105174896 105174896 C - DEL INF2 ENST00000392634 human ensembl 74_37 +1 known frame_shift_del c.1859 p.R622fs 0.008 pfam_FH2_Formin,smart_FH2_Formin pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_WH2_dom,superfamily_ARM-type_fold,smart_FH2_Formin,pfscan_WH2_dom - no_errors INF2 HGNC ENSG00000203485 63 0 0 35 20 36.3636 ENSG00000258908 0 genome.wustl.edu 37 14 20943125 20943125 + RNA DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 14 20943125 20943125 T - DEL ENSG00000258908 ENST00000554678 human ensembl 74_37 -1 known rna NULL NULL 0.004 - - - no_errors RP11-203M5.8 Clone_based_vega_gene ENSG00000258908 89 0 0 34 19 35.8491 CDH24 0 genome.wustl.edu 37 14 23517514 23517514 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 14 23517514 23517514 G - DEL CDH24 ENST00000267383 human ensembl 74_37 -1 known frame_shift_del c.2135 p.P712fs 0.000 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH24 HGNC ENSG00000139880 107 0 0 63 43 40.566 BCL2L2 0 genome.wustl.edu 37 14 23778156 23778157 + Frame_Shift_Ins INS - - T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 14 23778156 23778157 - T INS BCL2L2 ENST00000250405 human ensembl 74_37 +1 known frame_shift_ins c.564_565 p.A190fs 1.000:1.000 NULL pfam_Blc2_fam,pfam_Bcl2_BH4,smart_Bcl2_BH4,pfscan_Bcl2-like,pfscan_Bcl2_BH4,prints_Apop_reg_BclW,prints_Blc2_fam - no_errors BCL2L2 HGNC ENSG00000129473 84 0 0 32 20 38.4615 ARHGAP5 0 genome.wustl.edu 37 14 32562545 32562545 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 14 32562545 32562545 T - DEL ARHGAP5 ENST00000345122 human ensembl 74_37 +1 known frame_shift_del c.2670 p.F892fs 0.999 NULL pfam_RhoGAP_dom,pfam_FF_domain,pfam_Small_GTPase,superfamily_Rho_GTPase_activation_prot,superfamily_P-loop_NTPase,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom,prints_Small_GTPase - no_errors ARHGAP5 HGNC ENSG00000100852 90 0 0 32 15 31.9149 SNX6 0 genome.wustl.edu 37 14 35074876 35074876 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 14 35074876 35074876 T - DEL SNX6 ENST00000362031 human ensembl 74_37 -1 known frame_shift_del c.354 p.K118fs 1.000 pfam_Phox,superfamily_Phox,pirsf_Snx5_Snx6,pfscan_Phox pfam_Phox,pfam_Vps5_C,pfam_BAR_dom,superfamily_Phox,pirsf_Snx5_Snx6,pfscan_Phox - no_errors SNX6 HGNC ENSG00000129515 49 0 0 21 10 32.2581 CFL2 0 genome.wustl.edu 37 14 35182699 35182701 + In_Frame_Del DEL AGA AGA - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 14 35182699 35182701 AGA - DEL CFL2 ENST00000298159 human ensembl 74_37 -1 known in_frame_del c.72_70 p.S24in_frame_del 1.000:1.000:1.000 pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin,prints_ADF/Cofilin/Destrin pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin,prints_ADF/Cofilin/Destrin - no_errors CFL2 HGNC ENSG00000165410 65 0 0 20 13 39.3939 MBIP 0 genome.wustl.edu 37 14 36770037 36770038 + RNA DEL AA AA - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 14 36770037 36770038 AA - DEL MBIP ENST00000604154 human ensembl 74_37 -1 putative rna NULL NULL 0.241:0.349 - - - no_errors MBIP HGNC ENSG00000151332 9 0 0 8 3 27.2727 DPPA3P2 0 genome.wustl.edu 37 14 36841115 36841115 + RNA DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 14 36841115 36841115 T - DEL DPPA3P2 ENST00000557188 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors DPPA3P2 HGNC ENSG00000188831 167 0 0 81 10 10.989 CTAGE5 0 genome.wustl.edu 37 14 39819363 39819363 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 14 39819363 39819363 C - DEL CTAGE5 ENST00000396158 human ensembl 74_37 +1 known frame_shift_del c.2325 p.P777fs 0.940 NULL NULL - no_errors CTAGE5 HGNC ENSG00000150527 176 0 0 55 34 38.2022 FANCM 0 genome.wustl.edu 37 14 45636290 45636291 + Frame_Shift_Del DEL CA CA - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 14 45636290 45636291 CA - DEL FANCM ENST00000267430 human ensembl 74_37 +1 known frame_shift_del c.1926_1927 p.H644fs 1.000:0.998 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Restrct_endonuc-II-like,superfamily_RuvA_2-like,smart_Helicase_ATP-bd,smart_Helicase_C,smart_ERCC4_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors FANCM HGNC ENSG00000187790 121 0 0 55 15 21.4286 MIS18BP1 0 genome.wustl.edu 37 14 45716019 45716019 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 14 45716019 45716019 T - DEL MIS18BP1 ENST00000310806 human ensembl 74_37 -1 known frame_shift_del c.471 p.K157fs 0.001 NULL pfam_SANTA,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors MIS18BP1 HGNC ENSG00000129534 111 0 0 41 18 30.5085 SOS2 0 genome.wustl.edu 37 14 50626743 50626743 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 14 50626743 50626743 T - DEL SOS2 ENST00000216373 human ensembl 74_37 -1 known frame_shift_del c.1258 p.M420fs 1.000 NULL pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Histone_core_D,superfamily_Ras_GEF_dom,superfamily_Histone-fold,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors SOS2 HGNC ENSG00000100485 127 0 0 89 6 6.31579 CDKL1 0 genome.wustl.edu 37 14 50809704 50809704 + RNA DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 14 50809704 50809704 C - DEL CDKL1 ENST00000356146 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors CDKL1 HGNC ENSG00000100490 22 0 0 19 5 20.8333 NIN 0 genome.wustl.edu 37 14 51273538 51273539 + Splice_Site INS - - A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 14 51273538 51273539 - A INS NIN ENST00000245441 human ensembl 74_37 -1 known splice_site_ins c.184-3_184-2 e2-2 0.997:0.854 - - - no_errors NIN HGNC ENSG00000100503 31 0 0 17 7 29.1667 FERMT2 0 genome.wustl.edu 37 14 53360082 53360082 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 14 53360082 53360082 T - DEL FERMT2 ENST00000343279 human ensembl 74_37 -1 known frame_shift_del c.455 p.K152fs 1.000 pfam_FERM_N,smart_Band_41_domain pfam_FERM_central,pfam_Pleckstrin_homology,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors FERMT2 HGNC ENSG00000073712 112 0 0 45 25 35.7143 FBXO34 0 genome.wustl.edu 37 14 55819058 55819058 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 14 55819058 55819058 C - DEL FBXO34 ENST00000313833 human ensembl 74_37 +1 known frame_shift_del c.1950 p.K652fs 1.000 NULL superfamily_F-box_dom,pfscan_F-box_dom - no_errors FBXO34 HGNC ENSG00000178974 110 0 0 58 19 24.6753 DHRS7 0 genome.wustl.edu 37 14 60622738 60622739 + Frame_Shift_Ins INS - - T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 14 60622738 60622739 - T INS DHRS7 ENST00000216500 human ensembl 74_37 -1 known frame_shift_ins c.266_265 p.R89fs 1.000:0.993 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors DHRS7 HGNC ENSG00000100612 128 0 0 66 34 34 C14orf39 0 genome.wustl.edu 37 14 60923644 60923644 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 14 60923644 60923644 G - DEL C14orf39 ENST00000321731 human ensembl 74_37 -1 known frame_shift_del c.1349 p.P450fs 0.000 NULL NULL - no_errors C14orf39 HGNC ENSG00000179008 235 0 0 129 38 22.7545 SNAPC1 0 genome.wustl.edu 37 14 62242910 62242911 + Frame_Shift_Ins INS - - T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 14 62242910 62242911 - T INS SNAPC1 ENST00000216294 human ensembl 74_37 +1 known frame_shift_ins c.632_633 p.D214fs 1.000:0.961 NULL pfam_SNAPc_SNAP43 - no_errors SNAPC1 HGNC ENSG00000023608 65 0 0 28 11 28.2051 ENSG00000258891 0 genome.wustl.edu 37 14 74363249 74363249 + RNA DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 14 74363249 74363249 T - DEL ENSG00000258891 ENST00000554009 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors RP5-1021I20.5 Clone_based_vega_gene ENSG00000258891 71 0 0 42 9 17.6471 VSX2 0 genome.wustl.edu 37 14 74726415 74726415 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 14 74726415 74726415 C - DEL VSX2 ENST00000261980 human ensembl 74_37 +1 known frame_shift_del c.690 p.L232fs 1.000 NULL pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_OAR_dom,pfscan_Homeobox_dom - no_errors VSX2 HGNC ENSG00000119614 110 0 0 63 32 33.6842 VRTN 0 genome.wustl.edu 37 14 74824462 74824463 + Frame_Shift_Ins INS - - G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 14 74824462 74824463 - G INS VRTN ENST00000256362 human ensembl 74_37 +1 known frame_shift_ins c.976_977 p.V329fs 0.998:0.994 NULL pfam_Transposase_8 - no_errors VRTN HGNC ENSG00000133980 130 0 0 83 41 33.0645 MLH3 0 genome.wustl.edu 37 14 75515058 75515058 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 14 75515058 75515058 T - DEL MLH3 ENST00000355774 human ensembl 74_37 -1 known frame_shift_del c.1301 p.N434fs 0.002 NULL pfam_MutL_C,pfam_DNA_mismatch_repair_C,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_WW_dom,smart_MutL_C - no_errors MLH3 HGNC ENSG00000119684 124 1 0.8 52 23 30.6667 ANGEL1 0 genome.wustl.edu 37 14 77275933 77275933 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 14 77275933 77275933 G - DEL ANGEL1 ENST00000251089 human ensembl 74_37 -1 known frame_shift_del c.118 p.Q40fs 1.000 NULL pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase - no_errors ANGEL1 HGNC ENSG00000013523 101 0 0 44 26 37.1429 ZC3H14 0 genome.wustl.edu 37 14 89044473 89044473 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 14 89044473 89044473 A - DEL ZC3H14 ENST00000251038 human ensembl 74_37 +1 known frame_shift_del c.1268 p.N425fs 0.998 NULL smart_Znf_CCCH - no_errors ZC3H14 HGNC ENSG00000100722 90 0 0 42 14 25 NRDE2 0 genome.wustl.edu 37 14 90755464 90755464 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 14 90755464 90755464 T - DEL NRDE2 ENST00000354366 human ensembl 74_37 -1 known frame_shift_del c.2255 p.N752fs 1.000 NULL pfam_NRDE-2 - no_errors NRDE2 HGNC ENSG00000119720 194 0 0 157 15 8.72093 ATG2B 0 genome.wustl.edu 37 14 96788614 96788615 + RNA DEL AA AA - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 14 96788614 96788615 AA - DEL ATG2B ENST00000488421 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors ATG2B HGNC ENSG00000066739 68 0 0 18 23 56.0976 DNM1P46 0 genome.wustl.edu 37 15 100330968 100330969 + RNA DEL AC AC - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 AC AC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 15 100330968 100330969 AC - DEL DNM1P46 ENST00000341853 human ensembl 74_37 -1 known rna NULL NULL 0.008:0.009 - - - no_errors DNM1P46 HGNC ENSG00000182397 9 0 0 4 2 33.3333 LINS 0 genome.wustl.edu 37 15 101114004 101114004 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 15 101114004 101114004 T - DEL LINS ENST00000314742 human ensembl 74_37 -1 known frame_shift_del c.1074 p.K358fs 0.001 NULL NULL - no_errors LINS HGNC ENSG00000140471 177 0 0 54 49 47.5728 HERC2P2 0 genome.wustl.edu 37 15 23285312 23285313 + RNA INS - - G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 15 23285312 23285313 - G INS HERC2P2 ENST00000558398 human ensembl 74_37 -1 known rna NULL NULL 1.000:1.000 - - - no_errors HERC2P2 HGNC ENSG00000140181 84 0 0 71 5 6.57895 ATP10A 0 genome.wustl.edu 37 15 25953420 25953420 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 15 25953420 25953420 T - DEL ATP10A ENST00000356865 human ensembl 74_37 -1 known frame_shift_del c.2372 p.K791fs 1.000 superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP10A HGNC ENSG00000206190 121 0 0 62 39 38.6139 SRP14 0 genome.wustl.edu 37 15 40328596 40328597 + In_Frame_Ins INS - - TGC TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 15 40328596 40328597 - TGC INS SRP14 ENST00000267884 human ensembl 74_37 -1 known in_frame_ins c.349_348 p.116in_frame_insA 0.057:0.058 prints_Antifreeze_1 pfam_Signal_recog_particle_SRP14,superfamily_Signal_recog_particle_SRP9/14,prints_Antifreeze_1 - no_errors SRP14 HGNC ENSG00000140319 86 0 0 70 9 11.3924 C15orf52 0 genome.wustl.edu 37 15 40631782 40631782 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 15 40631782 40631782 C - DEL C15orf52 ENST00000559313 human ensembl 74_37 -1 known frame_shift_del c.294 p.M99fs 0.991 NULL NULL - no_errors C15orf52 HGNC ENSG00000188549 129 0 0 61 33 35.1064 DISP2 0 genome.wustl.edu 37 15 40660921 40660921 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 15 40660921 40660921 T - DEL DISP2 ENST00000267889 human ensembl 74_37 +1 known frame_shift_del c.2608 p.F871fs 0.994 NULL pfscan_SSD - no_errors DISP2 HGNC ENSG00000140323 46 0 0 44 21 32.3077 GANC 0 genome.wustl.edu 37 15 42600423 42600425 + In_Frame_Del DEL CTT CTT - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 15 42600423 42600425 CTT - DEL GANC ENST00000318010 human ensembl 74_37 +1 known in_frame_del c.629_631 p.S212in_frame_del 1.000:0.232:0.035 superfamily_Gal_mutarotase_SF_dom pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom - no_errors GANC HGNC ENSG00000214013 169 0 0 89 62 41.0596 ZNF106 0 genome.wustl.edu 37 15 42742957 42742957 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 15 42742957 42742957 A - DEL ZNF106 ENST00000263805 human ensembl 74_37 -1 known frame_shift_del c.1444 p.S482fs 0.139 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_Znf_C2H2-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors ZNF106 HGNC ENSG00000103994 251 1 0.396825 146 16 9.87654 PPIP5K1 0 genome.wustl.edu 37 15 43827486 43827486 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 15 43827486 43827486 C - DEL PPIP5K1 ENST00000420765 human ensembl 74_37 -1 known frame_shift_del c.3688 p.E1230fs 0.000 NULL pfam_His_Pase_superF_clade-2,superfamily_Cys_alpha_HP_mot_SF - no_errors PPIP5K1 HGNC ENSG00000168781 174 0 0 82 53 39.2593 HYPK 0 genome.wustl.edu 37 15 44094053 44094053 + RNA DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 15 44094053 44094053 T - DEL HYPK ENST00000497142 human ensembl 74_37 +1 known rna NULL NULL 0.011 - - - no_errors HYPK HGNC ENSG00000242028 41 0 0 22 8 26.6667 EIF3J 0 genome.wustl.edu 37 15 44843099 44843099 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 15 44843099 44843099 A - DEL EIF3J ENST00000261868 human ensembl 74_37 +1 known frame_shift_del c.173 p.E61fs 1.000 pfam_eIF3j pfam_eIF3j - no_errors EIF3J HGNC ENSG00000104131 105 0 0 79 26 24.7619 B2M 0 genome.wustl.edu 37 15 45007833 45007834 + Frame_Shift_Ins INS - - A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 15 45007833 45007834 - A INS B2M ENST00000544417 human ensembl 74_37 +1 known frame_shift_ins c.280_281 p.D96fs 0.000:0.000 pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors B2M HGNC ENSG00000166710 142 0 0 51 38 42.6966 USP8 0 genome.wustl.edu 37 15 50763891 50763892 + Frame_Shift_Ins INS - - G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 15 50763891 50763892 - G INS USP8 ENST00000307179 human ensembl 74_37 +1 known frame_shift_ins c.748_749 p.N252fs 1.000:1.000 pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,pfscan_Rhodanese-like_dom pfam_Peptidase_C19/C67,pfam_USP8_dimer,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,superfamily_WW_dom,pfscan_Rhodanese-like_dom,pfscan_Peptidase_C19/C67 - no_errors USP8 HGNC ENSG00000138592 147 0 0 51 35 40.6977 PIGB 0 genome.wustl.edu 37 15 55621922 55621922 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 15 55621922 55621922 T - DEL PIGB ENST00000164305 human ensembl 74_37 +1 known frame_shift_del c.523 p.C177fs 1.000 pfam_GPI_mannosylTrfase pfam_GPI_mannosylTrfase - no_errors PIGB HGNC ENSG00000069943 146 0 0 60 35 36.8421 PRTG 0 genome.wustl.edu 37 15 55912360 55912361 + Frame_Shift_Ins INS - - A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 15 55912360 55912361 - A INS PRTG ENST00000389286 human ensembl 74_37 -1 known frame_shift_ins c.3303_3302 p.S1102fs 1.000:1.000 NULL pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors PRTG HGNC ENSG00000166450 145 0 0 78 21 21.2121 ENSG00000259941 0 genome.wustl.edu 37 15 56686825 56686825 + RNA DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 15 56686825 56686825 T - DEL ENSG00000259941 ENST00000564401 human ensembl 74_37 -1 known rna NULL NULL 0.008 - - - no_errors RP11-48G14.2 Clone_based_vega_gene ENSG00000259941 18 0 0 9 7 43.75 TLN2 0 genome.wustl.edu 37 15 63076122 63076123 + Frame_Shift_Del DEL CA CA - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 15 63076122 63076123 CA - DEL TLN2 ENST00000472902 human ensembl 74_37 +1 putative frame_shift_del c.948_949 p.L320fs 0.004:0.000 NULL pfam_Vinculin-bd_dom,superfamily_Vinculin/catenin - no_errors TLN2 HGNC ENSG00000171914 80 0 0 59 15 20.2703 FBXL22 0 genome.wustl.edu 37 15 63889658 63889658 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 15 63889658 63889658 T - DEL FBXL22 ENST00000360587 human ensembl 74_37 +1 known frame_shift_del c.67 p.F23fs 1.000 superfamily_F-box_dom superfamily_F-box_dom - no_errors FBXL22 HGNC ENSG00000197361 85 0 0 65 9 12.1622 CSNK1G1 0 genome.wustl.edu 37 15 64506164 64506165 + Frame_Shift_Ins INS - - T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 15 64506164 64506165 - T INS CSNK1G1 ENST00000303052 human ensembl 74_37 -1 known frame_shift_ins c.604_603 p.H201fs 1.000:1.000 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_Casein_kinase-1_gamma_C,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 CSNK1G1 HGNC ENSG00000169118 176 0 0 84 32 27.5862 TRIP4 0 genome.wustl.edu 37 15 64686218 64686218 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 15 64686218 64686218 A - DEL TRIP4 ENST00000261884 human ensembl 74_37 +1 known frame_shift_del c.175 p.G61fs 0.978 NULL pfam_ASCH_domain,pfam_Znf_C2HC5,superfamily_PUA-like_domain - no_errors TRIP4 HGNC ENSG00000103671 59 0 0 18 16 47.0588 SLC24A1 0 genome.wustl.edu 37 15 65917248 65917248 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 15 65917248 65917248 A - DEL SLC24A1 ENST00000261892 human ensembl 74_37 +1 known frame_shift_del c.830 p.N279fs 0.001 tigrfam_K-dep_Na/Ca-exchanger pfam_NaCa_Exmemb,tigrfam_K-dep_Na/Ca-exchanger,tigrfam_K/Na/Ca-exchanger - no_errors SLC24A1 HGNC ENSG00000074621 176 0 0 86 61 41.4966 IQCH 0 genome.wustl.edu 37 15 67681234 67681234 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 15 67681234 67681234 A - DEL IQCH ENST00000335894 human ensembl 74_37 +1 known frame_shift_del c.1522 p.I510fs 0.579 NULL superfamily_P-loop_NTPase,pfscan_IQ_motif_EF-hand-BS - no_errors IQCH HGNC ENSG00000103599 128 1 0.775194 55 25 31.25 UACA 0 genome.wustl.edu 37 15 70961076 70961076 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 15 70961076 70961076 T - DEL UACA ENST00000322954 human ensembl 74_37 -1 known frame_shift_del c.1947 p.K649fs 0.012 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Prefoldin,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_T_SNARE_dom,prints_Ankyrin_rpt - no_errors UACA HGNC ENSG00000137831 64 0 0 32 17 34.6939 PML 0 genome.wustl.edu 37 15 74328248 74328248 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 15 74328248 74328248 C - DEL PML ENST00000268059 human ensembl 74_37 +1 known frame_shift_del c.2446 p.I818fs 0.009 NULL pfam_DUF3583,pfam_Znf_B-box,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors PML HGNC ENSG00000140464 350 0 0 198 103 34.2193 STRA6 0 genome.wustl.edu 37 15 74494643 74494643 + RNA DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 15 74494643 74494643 A - DEL STRA6 ENST00000573456 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors STRA6 HGNC ENSG00000137868 28 0 0 17 5 22.7273 MESDC2 0 genome.wustl.edu 37 15 81271633 81271633 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 15 81271633 81271633 T - DEL MESDC2 ENST00000261758 human ensembl 74_37 -1 known frame_shift_del c.632 p.K211fs 1.000 pfam_Mesoderm_development_cand-2 pfam_Mesoderm_development_cand-2 - no_errors MESDC2 HGNC ENSG00000117899 71 0 0 54 28 34.1463 AKAP13 0 genome.wustl.edu 37 15 86122437 86122437 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 15 86122437 86122437 G - DEL AKAP13 ENST00000361243 human ensembl 74_37 +1 known frame_shift_del c.1138 p.E381fs 0.005 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors AKAP13 HGNC ENSG00000170776 107 0 0 55 36 39.5604 AKAP13 0 genome.wustl.edu 37 15 86287017 86287017 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 15 86287017 86287017 A - DEL AKAP13 ENST00000361243 human ensembl 74_37 +1 known frame_shift_del c.8365 p.K2791fs 0.995 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors AKAP13 HGNC ENSG00000170776 98 0 0 62 32 34.0426 TICRR 0 genome.wustl.edu 37 15 90146028 90146028 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 15 90146028 90146028 A - DEL TICRR ENST00000268138 human ensembl 74_37 +1 known frame_shift_del c.2569 p.N858fs 1.000 NULL NULL - no_errors TICRR HGNC ENSG00000140534 18 0 0 9 7 43.75 SLCO3A1 0 genome.wustl.edu 37 15 92706482 92706483 + RNA DEL CA CA - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 15 92706482 92706483 CA - DEL SLCO3A1 ENST00000555549 human ensembl 74_37 +1 known rna NULL NULL 0.144:0.004 - - - no_errors SLCO3A1 HGNC ENSG00000176463 17 0 0 17 9 34.6154 CHD2 0 genome.wustl.edu 37 15 93480819 93480819 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 15 93480819 93480819 A - DEL CHD2 ENST00000420239 human ensembl 74_37 +1 known frame_shift_del c.515 p.V175fs 1.000 NULL pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow - no_errors CHD2 HGNC ENSG00000173575 44 0 0 50 20 28.5714 CACNA1H 0 genome.wustl.edu 37 16 1270496 1270496 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 1270496 1270496 C - DEL CACNA1H ENST00000348261 human ensembl 74_37 +1 known frame_shift_del c.6564 p.C2191fs 0.999 NULL pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_PKD_2 - no_errors CACNA1H HGNC ENSG00000196557 80 0 0 55 32 36.7816 MYH11 0 genome.wustl.edu 37 16 15797783 15797783 + RNA DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 15797783 15797783 T - DEL MYH11 ENST00000573908 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors MYH11 HGNC ENSG00000133392 98 0 0 37 24 39.3443 CRAMP1L 0 genome.wustl.edu 37 16 1709953 1709953 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 1709953 1709953 C - DEL CRAMP1L ENST00000293925 human ensembl 74_37 +1 known frame_shift_del c.2302 p.P769fs 0.999 NULL superfamily_Homeodomain-like,smart_SANT/Myb - no_errors CRAMP1L HGNC ENSG00000007545 52 0 0 49 6 10.9091 MAPK8IP3 0 genome.wustl.edu 37 16 1793366 1793366 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 1793366 1793366 C - DEL MAPK8IP3 ENST00000250894 human ensembl 74_37 +1 known frame_shift_del c.633 p.L213fs 1.000 NULL pfam_JNK/Rab-associated_protein-1_N,superfamily_WD40_repeat_dom - no_errors MAPK8IP3 HGNC ENSG00000138834 106 0 0 45 15 25 TMC5 0 genome.wustl.edu 37 16 19452014 19452015 + Frame_Shift_Ins INS - - T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 19452014 19452015 - T INS TMC5 ENST00000396229 human ensembl 74_37 +1 known frame_shift_ins c.654_655 p.G220fs 0.000:0.000 NULL pfam_TMC - no_errors TMC5 HGNC ENSG00000103534 108 0 0 59 11 15.7143 CASKIN1 0 genome.wustl.edu 37 16 2229782 2229782 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 2229782 2229782 G - DEL CASKIN1 ENST00000343516 human ensembl 74_37 -1 known frame_shift_del c.3587 p.P1196fs 0.964 NULL pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_SH3_domain,prints_Ankyrin_rpt - no_errors CASKIN1 HGNC ENSG00000167971 14 0 0 10 8 44.4444 GTF3C1 0 genome.wustl.edu 37 16 27475972 27475972 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 27475972 27475972 G - DEL GTF3C1 ENST00000356183 human ensembl 74_37 -1 known frame_shift_del c.5541 p.E1848fs 0.000 NULL pfam_TFIIIC_Bblock-bd - no_errors GTF3C1 HGNC ENSG00000077235 124 0 0 57 25 30.4878 ATXN2L 0 genome.wustl.edu 37 16 28838262 28838262 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 28838262 28838262 G - DEL ATXN2L ENST00000395547 human ensembl 74_37 +1 known frame_shift_del c.696 p.G234fs 0.677 NULL pfam_LsmAD_domain,pfam_Ataxin-2_C,superfamily_LSM_dom - no_errors ATXN2L HGNC ENSG00000168488 75 0 0 35 10 22.2222 SH2B1 0 genome.wustl.edu 37 16 28883208 28883208 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 28883208 28883208 C - DEL SH2B1 ENST00000322610 human ensembl 74_37 +1 known frame_shift_del c.1417 p.R475fs 1.000 NULL pfam_Phe_ZIP,pfam_Pleckstrin_homology,pfam_SH2,superfamily_Phe_ZIP,smart_Pleckstrin_homology,smart_SH2,pfscan_SH2,prints_SH2 - no_errors SH2B1 HGNC ENSG00000178188 140 0 0 91 28 23.5294 PRRT2 0 genome.wustl.edu 37 16 29825015 29825016 + Frame_Shift_Ins INS - - C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 29825015 29825016 - C INS PRRT2 ENST00000567659 human ensembl 74_37 +1 known frame_shift_ins c.640_641 p.R217fs 1.000:1.000 NULL pfam_CD225/Dispanin_fam - no_errors PRRT2 HGNC ENSG00000167371 27 0 0 12 5 29.4118 ITFG3 0 genome.wustl.edu 37 16 304591 304591 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 304591 304591 T - DEL ITFG3 ENST00000301678 human ensembl 74_37 +1 known frame_shift_del c.179 p.F61fs 0.991 superfamily_Quinonprotein_ADH-like_supfam superfamily_Quinonprotein_ADH-like_supfam - no_errors ITFG3 HGNC ENSG00000167930 332 0 0 205 102 33.2248 CLDN9 0 genome.wustl.edu 37 16 3063895 3063895 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 3063895 3063895 G - DEL CLDN9 ENST00000445369 human ensembl 74_37 +1 known frame_shift_del c.532 p.L180fs 0.976 pfam_PMP22/EMP/MP20/Claudin,prints_Claudin pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin9 - no_errors CLDN9 HGNC ENSG00000213937 67 0 0 50 35 41.1765 PHKG2 0 genome.wustl.edu 37 16 30768017 30768017 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 30768017 30768017 C - DEL PHKG2 ENST00000563588 human ensembl 74_37 +1 known frame_shift_del c.908 p.R305fs 0.756 superfamily_Kinase-like_dom,prints_Phosph_kin_gamma 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,prints_Phosph_kin_gamma,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PHKG2 HGNC ENSG00000156873 151 0 0 77 22 22.2222 TIGD7 0 genome.wustl.edu 37 16 3350471 3350472 + Frame_Shift_Ins INS - - T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 3350471 3350472 - T INS TIGD7 ENST00000268674 human ensembl 74_37 -1 known frame_shift_ins c.144_143 p.N48fs 0.995:0.999 pfam_HTH_Psq,superfamily_Homeodomain-like,pfscan_HTH_Psq pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq - no_errors TIGD7 HGNC ENSG00000140993 113 1 0.877193 77 16 17.2043 C16orf90 0 genome.wustl.edu 37 16 3543946 3543946 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 3543946 3543946 G - DEL C16orf90 ENST00000437192 human ensembl 74_37 -1 known frame_shift_del c.442 p.Q148fs 1.000 NULL NULL - no_errors C16orf90 HGNC ENSG00000215131 27 0 0 8 7 46.6667 AXIN1 0 genome.wustl.edu 37 16 396787 396787 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 396787 396787 G - DEL AXIN1 ENST00000262320 human ensembl 74_37 -1 known frame_shift_del c.239 p.P80fs 1.000 superfamily_Regulat_G_prot_signal_superfam pfam_DIX,pfam_RGS_dom,pfam_Axin_b-cat-bd,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_DIX,pfscan_DIX,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors AXIN1 HGNC ENSG00000103126 58 0 0 31 4 11.4286 VASN 0 genome.wustl.edu 37 16 4432529 4432529 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 4432529 4432529 G - DEL VASN ENST00000304735 human ensembl 74_37 +1 known frame_shift_del c.1651 p.E552fs 1.000 pfscan_Fibronectin_type3 pfam_Leu-rich_rpt,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors VASN HGNC ENSG00000168140 19 0 0 16 10 38.4615 VPS35 0 genome.wustl.edu 37 16 46695735 46695735 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 46695735 46695735 T - DEL VPS35 ENST00000299138 human ensembl 74_37 -1 known frame_shift_del c.2106 p.A703fs 0.998 pfam_VPS35,superfamily_ARM-type_fold pfam_VPS35,superfamily_ARM-type_fold - no_errors VPS35 HGNC ENSG00000069329 142 0 0 63 20 24.0964 ANKS3 0 genome.wustl.edu 37 16 4747357 4747358 + Frame_Shift_Ins INS - - G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 4747357 4747358 - G INS ANKS3 ENST00000304283 human ensembl 74_37 -1 known frame_shift_ins c.1871_1870 p.L624fs 0.966:0.735 NULL pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,prints_Ankyrin_rpt - no_errors ANKS3 HGNC ENSG00000168096 108 0 0 64 33 34.0206 NOD2 0 genome.wustl.edu 37 16 50745331 50745331 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 50745331 50745331 G - DEL NOD2 ENST00000300589 human ensembl 74_37 +1 known frame_shift_del c.1509 p.S506fs 0.001 NULL pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD - no_errors NOD2 HGNC ENSG00000167207 175 0 0 112 29 20.5674 TOX3 0 genome.wustl.edu 37 16 52478236 52478236 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 52478236 52478236 T - DEL TOX3 ENST00000219746 human ensembl 74_37 -1 known frame_shift_del c.939 p.E314fs 0.928 pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors TOX3 HGNC ENSG00000103460 16 0 0 16 7 30.4348 RPGRIP1L 0 genome.wustl.edu 37 16 53691536 53691536 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 53691536 53691536 T - DEL RPGRIP1L ENST00000379925 human ensembl 74_37 -1 known frame_shift_del c.1410 p.E471fs 0.963 NULL pfam_DUF3250,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors RPGRIP1L HGNC ENSG00000103494 21 0 0 8 6 42.8571 RSPRY1 0 genome.wustl.edu 37 16 57272952 57272952 + RNA DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 57272952 57272952 A - DEL RSPRY1 ENST00000563073 human ensembl 74_37 +1 known rna NULL NULL 0.140 - - - no_errors RSPRY1 HGNC ENSG00000159579 21 0 0 12 7 36.8421 SLC38A7 0 genome.wustl.edu 37 16 58705111 58705111 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 58705111 58705111 C - DEL SLC38A7 ENST00000219320 human ensembl 74_37 -1 known frame_shift_del c.1069 p.V357fs 0.001 pfam_AA_transpt_TM pfam_AA_transpt_TM,pfam_Tryptophan/tyrosine_permease - no_errors SLC38A7 HGNC ENSG00000103042 64 0 0 54 16 22.8571 CTCF 0 genome.wustl.edu 37 16 67645339 67645339 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 67645339 67645339 A - DEL CTCF ENST00000264010 human ensembl 74_37 +1 known frame_shift_del c.604 p.T204fs 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CTCF HGNC ENSG00000102974 93 0 0 57 34 37.3626 ZFP90 0 genome.wustl.edu 37 16 68597471 68597471 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 68597471 68597471 A - DEL ZFP90 ENST00000398253 human ensembl 74_37 +1 known frame_shift_del c.781 p.T262fs 0.942 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 ZFP90 HGNC ENSG00000184939 174 0 0 146 13 8.1761 MTSS1L 0 genome.wustl.edu 37 16 70698147 70698147 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 70698147 70698147 G - DEL MTSS1L ENST00000338779 human ensembl 74_37 -1 known frame_shift_del c.1677 p.G560fs 0.001 NULL pfam_IRSp53/MIM_homology_IMD - no_errors MTSS1L HGNC ENSG00000132613 12 0 0 31 10 24.3902 HYDIN 0 genome.wustl.edu 37 16 71007853 71007854 + Frame_Shift_Ins INS - - GA TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 71007853 71007854 - GA INS HYDIN ENST00000393567 human ensembl 74_37 -1 putative frame_shift_ins c.5108_5107 p.R1703fs 0.000:0.000 NULL superfamily_P-loop_NTPase,superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 159 0 0 137 9 6.16438 MARVELD3 0 genome.wustl.edu 37 16 71668442 71668442 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 71668442 71668442 G - DEL MARVELD3 ENST00000268485 human ensembl 74_37 +1 known frame_shift_del c.942 p.Y317fs 0.000 NULL NULL - no_errors MARVELD3 HGNC ENSG00000140832 63 0 0 73 9 10.9756 WDR90 0 genome.wustl.edu 37 16 716929 716929 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 716929 716929 T - DEL WDR90 ENST00000315764 human ensembl 74_37 +1 known frame_shift_del c.682 p.F229fs 0.010 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR90 HGNC ENSG00000161996 32 0 0 25 10 28.5714 ZFHX3 0 genome.wustl.edu 37 16 72821960 72821960 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 72821960 72821960 G - DEL ZFHX3 ENST00000268489 human ensembl 74_37 -1 known frame_shift_del c.10215 p.A3407fs 0.977 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX3 HGNC ENSG00000140836 66 0 0 37 18 32.7273 PLCG2 0 genome.wustl.edu 37 16 81942124 81942125 + Frame_Shift_Ins INS - - G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 81942124 81942125 - G INS PLCG2 ENST00000359376 human ensembl 74_37 +1 known frame_shift_ins c.1661_1662 p.K557fs 0.856:0.303 pfam_SH2,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_SH2,pirsf_PLC-gamma,pfscan_SH2 pfam_PLipase_C_PInositol-sp_X_dom,pfam_SH2,pfam_PLipase_C_Pinositol-sp_Y,pfam_SH3_domain,pfam_C2_dom,pfam_PLipase_C_EF-hand-like,pfam_SH3_2,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_SH2,smart_SH3_domain,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pirsf_PLC-gamma,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C,prints_SH2,prints_SH3_domain - no_errors PLCG2 HGNC ENSG00000197943 49 0 0 34 17 33.3333 MLYCD 0 genome.wustl.edu 37 16 83941844 83941844 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 83941844 83941844 T - DEL MLYCD ENST00000262430 human ensembl 74_37 +1 known frame_shift_del c.755 p.L253fs 0.772 pfam_Malonyl_CoA_deC pfam_Malonyl_CoA_deC - no_errors MLYCD HGNC ENSG00000103150 92 0 0 77 21 21.4286 ZDHHC7 0 genome.wustl.edu 37 16 85010045 85010045 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 85010045 85010045 C - DEL ZDHHC7 ENST00000344861 human ensembl 74_37 -1 known frame_shift_del c.942 p.S317fs 0.001 NULL pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC7 HGNC ENSG00000153786 101 0 0 92 8 8 GSE1 0 genome.wustl.edu 37 16 85682289 85682290 + Frame_Shift_Ins INS - - CC TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 85682289 85682290 - CC INS GSE1 ENST00000253458 human ensembl 74_37 +1 known frame_shift_ins c.358_359 p.V123fs 1.000:0.999 pfam_GSE-like pfam_GSE-like - no_errors GSE1 HGNC ENSG00000131149 115 0 0 102 79 43.6464 ZCCHC14 0 genome.wustl.edu 37 16 87453429 87453429 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 87453429 87453429 A - DEL ZCCHC14 ENST00000268616 human ensembl 74_37 -1 known frame_shift_del c.594 p.L199fs 1.000 superfamily_Phox pfam_SAM_type1,pfam_Znf_CCHC,superfamily_Phox,superfamily_SAM/pointed,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC14 HGNC ENSG00000140948 68 0 0 58 10 14.7059 ZC3H18 0 genome.wustl.edu 37 16 88691141 88691141 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 88691141 88691141 C - DEL ZC3H18 ENST00000301011 human ensembl 74_37 +1 known frame_shift_del c.2030 p.R680fs 0.568 NULL smart_Znf_CCCH - no_errors ZC3H18 HGNC ENSG00000158545 32 0 0 22 19 46.3415 TUBB8P7 0 genome.wustl.edu 37 16 90160865 90160865 + RNA DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 16 90160865 90160865 C - DEL TUBB8P7 ENST00000564451 human ensembl 74_37 +1 known rna NULL NULL 0.161 - - - no_errors TUBB8P7 HGNC ENSG00000261812 33 0 0 48 12 20 ENSG00000205325 0 genome.wustl.edu 37 17 14673543 14673543 + RNA DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 14673543 14673543 T - DEL ENSG00000205325 ENST00000379640 human ensembl 74_37 -1 known rna NULL NULL 0.005 - - - no_errors AC005863.1 Clone_based_vega_gene ENSG00000205325 60 0 0 24 8 25 SCARF1 0 genome.wustl.edu 37 17 1538678 1538678 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 1538678 1538678 C - DEL SCARF1 ENST00000263071 human ensembl 74_37 -1 known frame_shift_del c.1867 p.A623fs 0.179 NULL pfam_EGF_laminin,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom - no_errors SCARF1 HGNC ENSG00000074660 73 0 0 36 30 45.4545 NCOR1 0 genome.wustl.edu 37 17 16029445 16029446 + Frame_Shift_Ins INS - - T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 16029445 16029446 - T INS NCOR1 ENST00000268712 human ensembl 74_37 -1 known frame_shift_ins c.1585_1584 p.E528fs 1.000:1.000 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR1 HGNC ENSG00000141027 26 0 0 9 4 30.7692 TNFRSF13B 0 genome.wustl.edu 37 17 16843700 16843700 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 16843700 16843700 C - DEL TNFRSF13B ENST00000261652 human ensembl 74_37 -1 known frame_shift_del c.571 p.D191fs 0.043 NULL pfam_TACI_Cys-rich-dom,prints_TNFR_13B - no_errors TNFRSF13B HGNC ENSG00000240505 93 0 0 72 29 28.7129 FLCN 0 genome.wustl.edu 37 17 17119709 17119709 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 17119709 17119709 G - DEL FLCN ENST00000285071 human ensembl 74_37 -1 known frame_shift_del c.1285 p.H429fs 1.000 NULL pfam_Folliculin - no_errors FLCN HGNC ENSG00000154803 29 0 0 33 11 25 ENSG00000262920 0 genome.wustl.edu 37 17 171283 171283 + RNA DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 171283 171283 C - DEL ENSG00000262920 ENST00000570501 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-1260E13.1 Clone_based_vega_gene ENSG00000262920 13 0 0 18 6 25 NT5M 0 genome.wustl.edu 37 17 17250189 17250190 + Frame_Shift_Ins INS - - C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 17250189 17250190 - C INS NT5M ENST00000389022 human ensembl 74_37 +1 known frame_shift_ins c.615_616 p.R207fs 0.998:1.000 pfam_5'(3')-deoxyribonucleotidase,superfamily_HAD-like_dom pfam_5'(3')-deoxyribonucleotidase,superfamily_HAD-like_dom - no_errors NT5M HGNC ENSG00000205309 67 0 0 48 9 15.7895 SMG6 0 genome.wustl.edu 37 17 1964760 1964760 + RNA DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 1964760 1964760 G - DEL SMG6 ENST00000570756 human ensembl 74_37 -1 known rna NULL NULL 0.027 - - - no_errors SMG6 HGNC ENSG00000070366 12 0 0 2 8 80 FOXN1 0 genome.wustl.edu 37 17 26851000 26851000 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 26851000 26851000 C - DEL FOXN1 ENST00000226247 human ensembl 74_37 +1 known frame_shift_del c.13 p.P6fs 0.459 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXN1 HGNC ENSG00000109101 49 0 0 23 5 17.8571 CPD 0 genome.wustl.edu 37 17 28772928 28772930 + In_Frame_Del DEL CTC CTC - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 28772928 28772930 CTC - DEL CPD ENST00000225719 human ensembl 74_37 +1 known in_frame_del c.2763_2765 p.S924in_frame_del 0.809:0.976:0.981 NULL pfam_Peptidase_M14,superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPD HGNC ENSG00000108582 103 0 0 39 24 38.0952 ENSG00000266535 0 genome.wustl.edu 37 17 31439098 31439101 + RNA DEL AGAG AGAG - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 AGAG AGAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 31439098 31439101 AGAG - DEL ENSG00000266535 ENST00000584688 human ensembl 74_37 +1 known rna NULL NULL 0.563:0.970:0.975:0.999 - - - no_errors RP11-40A13.1 Clone_based_vega_gene ENSG00000266535 28 0 0 16 6 27.2727 LIG3 0 genome.wustl.edu 37 17 33310486 33310486 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 33310486 33310486 A - DEL LIG3 ENST00000378526 human ensembl 74_37 +1 known frame_shift_del c.462 p.I157fs 1.000 pfam_Znf_PARP,pfscan_Znf_PARP pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_Znf_PARP,pfam_DNA_ligase_ATP-dep_C,superfamily_NA-bd_OB-fold,superfamily_BRCT_dom,superfamily_DNA_ligase_ATP-dep_N,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_Znf_PARP,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep - no_errors LIG3 HGNC ENSG00000005156 49 0 0 37 16 30.1887 SLFN12 0 genome.wustl.edu 37 17 33749492 33749493 + Frame_Shift_Ins INS - - A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 33749492 33749493 - A INS SLFN12 ENST00000304905 human ensembl 74_37 -1 known frame_shift_ins c.556_555 p.D185fs 0.030:0.080 NULL pfam_ATPase_AAA-4 - no_errors SLFN12 HGNC ENSG00000172123 100 1 0.990099 40 22 35.4839 ITGAE 0 genome.wustl.edu 37 17 3655036 3655036 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 3655036 3655036 G - DEL ITGAE ENST00000263087 human ensembl 74_37 -1 known frame_shift_del c.1801 p.L601fs 1.000 smart_Int_alpha_beta-p pfam_Integrin_alpha-2,pfam_VWF_A,pfam_Integrin_alpha_C_CS,smart_VWF_A,smart_Int_alpha_beta-p,prints_Integrin_alpha,pfscan_VWF_A - no_errors ITGAE HGNC ENSG00000083457 101 0 0 77 16 17.2043 SRCIN1 0 genome.wustl.edu 37 17 36707421 36707421 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 36707421 36707421 G - DEL SRCIN1 ENST00000264659 human ensembl 74_37 -1 known frame_shift_del c.2932 p.R978fs 1.000 NULL pfam_AIP3_C - no_errors SRCIN1 HGNC ENSG00000017373 30 0 0 19 12 38.7097 MED24 0 genome.wustl.edu 37 17 38182445 38182446 + Frame_Shift_Del DEL AG AG - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 38182445 38182446 AG - DEL MED24 ENST00000394128 human ensembl 74_37 -1 known frame_shift_del c.1949_1948 p.L650fs 0.996:0.901 pfam_Mediator_Med24_N pfam_Mediator_Med24_N - no_errors MED24 HGNC ENSG00000008838 140 0 0 64 38 37.2549 THRA 0 genome.wustl.edu 37 17 38243082 38243083 + Frame_Shift_Ins INS - - A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 38243082 38243083 - A INS THRA ENST00000264637 human ensembl 74_37 +1 known frame_shift_ins c.699_700 p.L235fs 1.000:1.000 superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_ThyrH_rcpt,prints_Str_hrmn_rcpt pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_ThyrH_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors THRA HGNC ENSG00000126351 106 0 0 95 8 7.76699 KRT23 0 genome.wustl.edu 37 17 39092691 39092692 + Frame_Shift_Ins INS - - G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 39092691 39092692 - G INS KRT23 ENST00000209718 human ensembl 74_37 -1 known frame_shift_ins c.165_164 p.G56fs 0.000:0.000 NULL pfam_IF,prints_Keratin_I - no_errors KRT23 HGNC ENSG00000108244 146 0 0 59 43 42.1569 FKBP10 0 genome.wustl.edu 37 17 39975558 39975559 + Frame_Shift_Ins INS - - C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 39975558 39975559 - C INS FKBP10 ENST00000321562 human ensembl 74_37 +1 known frame_shift_ins c.824_825 p.G278fs 0.298:0.062 NULL pfam_PPIase_FKBP_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_PPIase_FKBP_dom - no_errors FKBP10 HGNC ENSG00000141756 124 0 0 90 42 31.8182 KCNH4 0 genome.wustl.edu 37 17 40312113 40312113 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 40312113 40312113 G - DEL KCNH4 ENST00000264661 human ensembl 74_37 -1 known frame_shift_del c.2999 p.P1000fs 0.000 NULL pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold_3,pfam_PAS_fold,pfam_PAS_4,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH4 HGNC ENSG00000089558 49 0 0 42 29 40.8451 STAT5B 0 genome.wustl.edu 37 17 40370235 40370236 + Frame_Shift_Ins INS - - G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 40370235 40370236 - G INS STAT5B ENST00000293328 human ensembl 74_37 -1 known frame_shift_ins c.1103_1102 p.Q368fs 1.000:1.000 pfam_STAT_TF_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2 - no_errors STAT5B HGNC ENSG00000173757 75 0 0 58 38 39.5833 STAT5A 0 genome.wustl.edu 37 17 40453399 40453399 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 40453399 40453399 C - DEL STAT5A ENST00000345506 human ensembl 74_37 +1 known frame_shift_del c.1096 p.Q368fs 1.000 pfam_STAT_TF_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2 - no_errors STAT5A HGNC ENSG00000126561 128 0 0 129 34 20.8589 PLEKHH3 0 genome.wustl.edu 37 17 40825491 40825491 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 40825491 40825491 C - DEL PLEKHH3 ENST00000591022 human ensembl 74_37 -1 known frame_shift_del c.574 p.V192fs 0.002 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_MyTH4_dom,pfam_FERM_central,pfam_Ras-assoc,superfamily_FERM_central,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology - no_errors PLEKHH3 HGNC ENSG00000068137 82 0 0 35 27 43.5484 WNK4 0 genome.wustl.edu 37 17 40939870 40939870 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 40939870 40939870 G - DEL WNK4 ENST00000246914 human ensembl 74_37 +1 known frame_shift_del c.1816 p.V608fs 0.004 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors WNK4 HGNC ENSG00000126562 93 0 0 83 7 7.77778 MAP3K14-AS1 0 genome.wustl.edu 37 17 43339305 43339305 + RNA DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 43339305 43339305 C - DEL MAP3K14-AS1 ENST00000585780 human ensembl 74_37 +1 known rna NULL NULL 0.010 - - - no_errors MAP3K14-AS1 HGNC ENSG00000267278 19 0 0 8 9 52.9412 EFCAB13 0 genome.wustl.edu 37 17 45471395 45471395 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 45471395 45471395 A - DEL EFCAB13 ENST00000331493 human ensembl 74_37 +1 known frame_shift_del c.1731 p.V580fs 0.000 NULL NULL - no_errors EFCAB13 HGNC ENSG00000178852 75 0 0 27 26 49.0566 NFE2L1 0 genome.wustl.edu 37 17 46128959 46128959 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 46128959 46128959 C - DEL NFE2L1 ENST00000362042 human ensembl 74_37 +1 known frame_shift_del c.479 p.P162fs 1.000 NULL pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors NFE2L1 HGNC ENSG00000082641 115 0 0 71 34 32.381 XYLT2 0 genome.wustl.edu 37 17 48433967 48433967 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 48433967 48433967 C - DEL XYLT2 ENST00000017003 human ensembl 74_37 +1 known frame_shift_del c.1578 p.G529fs 1.000 pfam_XylT pfam_XylT,pfam_Glyco_trans_14 - no_errors XYLT2 HGNC ENSG00000015532 119 0 0 56 52 48.1481 ANKRD40 0 genome.wustl.edu 37 17 48777221 48777223 + In_Frame_Del DEL TCA TCA - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 TCA TCA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 48777221 48777223 TCA - DEL ANKRD40 ENST00000285243 human ensembl 74_37 -1 known in_frame_del c.317_315 p.D106in_frame_del 0.003:0.003:0.001 superfamily_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD40 HGNC ENSG00000154945 42 0 0 29 12 29.2683 RNF43 0 genome.wustl.edu 37 17 56435161 56435161 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 56435161 56435161 C - DEL RNF43 ENST00000407977 human ensembl 74_37 -1 known frame_shift_del c.1976 p.G659fs 0.900 NULL pfam_Znf_C3HC4_RING-type,superfamily_PAS,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF43 HGNC ENSG00000108375 185 1 0.537634 66 125 65.445 PPM1D 0 genome.wustl.edu 37 17 58740439 58740439 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 58740439 58740439 T - DEL PPM1D ENST00000305921 human ensembl 74_37 +1 known frame_shift_del c.1344 p.L450fs 0.970 NULL pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom - no_errors PPM1D HGNC ENSG00000170836 110 0 0 52 32 38.0952 MED13 0 genome.wustl.edu 37 17 60111269 60111269 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 60111269 60111269 T - DEL MED13 ENST00000397786 human ensembl 74_37 -1 known frame_shift_del c.693 p.K231fs 1.000 pfam_Mediator_Med13_N_met/fun pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun - no_errors MED13 HGNC ENSG00000108510 91 0 0 40 15 27.2727 METTL2A 0 genome.wustl.edu 37 17 60522297 60522298 + Frame_Shift_Ins INS - - A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 60522297 60522298 - A INS METTL2A ENST00000311506 human ensembl 74_37 +1 known frame_shift_ins c.909_910 p.G305fs 1.000:1.000 pirsf_MeTrfase pfam_Methyltransf_12,pfam_Methyltransf_11,pfam_UbiE/COQ5_MeTrFase,pirsf_MeTrfase - no_errors METTL2A HGNC ENSG00000087995 47 0 0 31 17 35.4167 ACE 0 genome.wustl.edu 37 17 61571754 61571754 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 61571754 61571754 C - DEL ACE ENST00000290866 human ensembl 74_37 +1 known frame_shift_del c.3303 p.P1103fs 0.895 pfam_Peptidase_M2,prints_Peptidase_M2 pfam_Peptidase_M2,prints_Peptidase_M2 - no_errors ACE HGNC ENSG00000159640 71 0 0 21 16 43.2432 DDX42 0 genome.wustl.edu 37 17 61886281 61886281 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 61886281 61886281 G - DEL DDX42 ENST00000389924 human ensembl 74_37 +1 known frame_shift_del c.1125 p.A377fs 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd 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 DDX42 HGNC ENSG00000198231 133 0 0 44 27 38.0282 AXIN2 0 genome.wustl.edu 37 17 63533939 63533940 + Frame_Shift_Del DEL CT CT - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 63533939 63533940 CT - DEL AXIN2 ENST00000307078 human ensembl 74_37 -1 known frame_shift_del c.1215_1214 p.E405fs 1.000:1.000 NULL pfam_DIX,pfam_RGS_dom,pfam_Axin_b-cat-bd,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_DIX,pfscan_DIX,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors AXIN2 HGNC ENSG00000168646 9 0 0 13 8 38.0952 ABCA6 0 genome.wustl.edu 37 17 67125767 67125767 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 67125767 67125767 A - DEL ABCA6 ENST00000284425 human ensembl 74_37 -1 known frame_shift_del c.917 p.L306fs 1.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA6 HGNC ENSG00000154262 139 1 0.714286 31 36 53.7313 ABCA10 0 genome.wustl.edu 37 17 67190626 67190626 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 67190626 67190626 A - DEL ABCA10 ENST00000269081 human ensembl 74_37 -1 known frame_shift_del c.1245 p.F415fs 0.954 superfamily_P-loop_NTPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA10 HGNC ENSG00000154263 75 0 0 35 17 32.6923 SLC16A11 0 genome.wustl.edu 37 17 6945482 6945482 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 6945482 6945482 C - DEL SLC16A11 ENST00000308009 human ensembl 74_37 -1 known frame_shift_del c.1019 p.G340fs 0.191 superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A11 HGNC ENSG00000174326 12 0 0 7 3 30 SOX9 0 genome.wustl.edu 37 17 70117712 70117714 + In_Frame_Del DEL GAA GAA - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 GAA GAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 70117712 70117714 GAA - DEL SOX9 ENST00000245479 human ensembl 74_37 +1 known in_frame_del c.180_182 p.K62in_frame_del 1.000:1.000:1.000 pfam_Sox_N pfam_Sox_N,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX9 HGNC ENSG00000125398 23 0 0 12 7 36.8421 ZBTB4 0 genome.wustl.edu 37 17 7370109 7370110 + Frame_Shift_Ins INS - - G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 7370109 7370110 - G INS ZBTB4 ENST00000311403 human ensembl 74_37 -1 known frame_shift_ins c.12_11 p.A5fs 0.997:1.000 superfamily_BTB/POZ_fold pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB4 HGNC ENSG00000174282 8 0 0 11 3 21.4286 FOXJ1 0 genome.wustl.edu 37 17 74133832 74133833 + Frame_Shift_Ins INS - - G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 74133832 74133833 - G INS FOXJ1 ENST00000322957 human ensembl 74_37 -1 known frame_shift_ins c.868_867 p.S289fs 1.000:1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,prints_TF_fork_head,pfscan_TF_fork_head - no_errors FOXJ1 HGNC ENSG00000129654 42 0 0 26 12 31.5789 FXR2 0 genome.wustl.edu 37 17 7496122 7496122 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 7496122 7496122 G - DEL FXR2 ENST00000250113 human ensembl 74_37 -1 known frame_shift_del c.1619 p.P540fs 1.000 NULL pfam_Frag_X_MRP_fam,pfam_KH_dom_type_1,pfam_Agenet-like_dom,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors FXR2 HGNC ENSG00000129245 69 0 0 48 24 33.3333 WRAP53 0 genome.wustl.edu 37 17 7604749 7604749 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 7604749 7604749 G - DEL WRAP53 ENST00000498311 human ensembl 74_37 +1 known frame_shift_del c.736 p.V247fs 0.011 NULL superfamily_WD40_repeat_dom - no_errors WRAP53 HGNC ENSG00000141499 117 0 0 62 34 35.4167 DNAH2 0 genome.wustl.edu 37 17 7640418 7640418 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 7640418 7640418 T - DEL DNAH2 ENST00000389173 human ensembl 74_37 +1 known frame_shift_del c.1012 p.L339fs 1.000 pfam_Dynein_heavy_dom-1 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH2 HGNC ENSG00000183914 122 0 0 55 30 35.2941 CBX2 0 genome.wustl.edu 37 17 77755692 77755692 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 77755692 77755692 G - DEL CBX2 ENST00000269399 human ensembl 74_37 +1 known frame_shift_del c.380 p.W129fs 0.000 NULL pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow,prints_Chromo_dom_subgr - no_errors CBX2 HGNC ENSG00000173894 141 0 0 67 37 35.5769 CBX8 0 genome.wustl.edu 37 17 77768648 77768648 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 77768648 77768648 C - DEL CBX8 ENST00000269385 human ensembl 74_37 -1 known frame_shift_del c.956 p.G319fs 0.000 NULL pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow - no_errors CBX8 HGNC ENSG00000141570 30 0 0 16 10 38.4615 CHD3 0 genome.wustl.edu 37 17 7798765 7798765 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 7798765 7798765 C - DEL CHD3 ENST00000330494 human ensembl 74_37 +1 known frame_shift_del c.1612 p.R540fs 0.007 superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD3 HGNC ENSG00000170004 154 0 0 129 16 11.0345 CCDC40 0 genome.wustl.edu 37 17 78022482 78022483 + Frame_Shift_Del DEL AG AG - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 78022482 78022483 AG - DEL CCDC40 ENST00000397545 human ensembl 74_37 +1 known frame_shift_del c.777_778 p.R261fs 0.000:0.001 NULL pfam_E3_ubiquit_lig_BRE1 - no_errors CCDC40 HGNC ENSG00000141519 52 0 0 52 8 13.3333 CCDC137 0 genome.wustl.edu 37 17 79639138 79639138 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 79639138 79639138 C - DEL CCDC137 ENST00000329214 human ensembl 74_37 +1 known frame_shift_del c.613 p.P206fs 1.000 NULL NULL - no_errors CCDC137 HGNC ENSG00000185298 56 0 0 45 23 33.8235 LRRC45 0 genome.wustl.edu 37 17 79985564 79985564 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 79985564 79985564 G - DEL LRRC45 ENST00000306688 human ensembl 74_37 +1 known frame_shift_del c.848 p.R283fs 0.047 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC45 HGNC ENSG00000169683 28 0 0 20 11 35.4839 CCDC57 0 genome.wustl.edu 37 17 80059474 80059474 + RNA DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 80059474 80059474 C - DEL CCDC57 ENST00000584717 human ensembl 74_37 -1 putative rna NULL NULL 0.003 - - - no_errors CCDC57 HGNC ENSG00000176155 56 0 0 36 31 46.2687 RANGRF 0 genome.wustl.edu 37 17 8192722 8192722 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 8192722 8192722 A - DEL RANGRF ENST00000226105 human ensembl 74_37 +1 known frame_shift_del c.341 p.N115fs 1.000 pfam_Mog1,superfamily_Mog1/PsbP_a/b/a-sand pfam_Mog1,superfamily_Mog1/PsbP_a/b/a-sand - no_errors RANGRF HGNC ENSG00000108961 66 0 0 21 19 47.5 ARHGEF15 0 genome.wustl.edu 37 17 8224297 8224298 + Frame_Shift_Ins INS - - C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 8224297 8224298 - C INS ARHGEF15 ENST00000361926 human ensembl 74_37 +1 known frame_shift_ins c.2512_2513 p.P841fs 0.000:0.001 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF15 HGNC ENSG00000198844 115 0 0 76 20 20.8333 CCDC42 0 genome.wustl.edu 37 17 8633476 8633476 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 17 8633476 8633476 T - DEL CCDC42 ENST00000293845 human ensembl 74_37 -1 known frame_shift_del c.923 p.K308fs 0.999 NULL NULL - no_errors CCDC42 HGNC ENSG00000161973 51 0 0 31 21 40.3846 CEP76 0 genome.wustl.edu 37 18 12699829 12699829 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 18 12699829 12699829 T - DEL CEP76 ENST00000262127 human ensembl 74_37 -1 known frame_shift_del c.295 p.T99fs 1.000 NULL superfamily_C2_dom - no_errors CEP76 HGNC ENSG00000101624 10 0 0 9 4 30.7692 RBBP8 0 genome.wustl.edu 37 18 20572853 20572853 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 18 20572853 20572853 A - DEL RBBP8 ENST00000327155 human ensembl 74_37 +1 known frame_shift_del c.1063 p.K357fs 0.002 NULL pfam_CtIP_N,pfam_DNA-repair_Sae2/CtIP - no_errors RBBP8 HGNC ENSG00000101773 109 0 0 61 17 21.7949 ENSG00000263698 0 genome.wustl.edu 37 18 28711868 28711868 + RNA DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 18 28711868 28711868 T - DEL ENSG00000263698 ENST00000582307 human ensembl 74_37 +1 known rna NULL NULL 0.072 - - - no_errors RP11-408H20.3 Clone_based_vega_gene ENSG00000263698 21 0 0 10 3 23.0769 ENSG00000252258 0 genome.wustl.edu 37 18 3025533 3025533 + RNA DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 18 3025533 3025533 A - DEL ENSG00000252258 ENST00000516449 human ensembl 74_37 -1 novel rna NULL NULL 0.000 - - - no_errors SNORA70 RFAM ENSG00000252258 38 0 0 14 14 50 KLHL14 0 genome.wustl.edu 37 18 30349862 30349862 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 18 30349862 30349862 G - DEL KLHL14 ENST00000359358 human ensembl 74_37 -1 known frame_shift_del c.693 p.V232fs 0.982 pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL14 HGNC ENSG00000197705 61 0 0 50 23 31.5068 CCDC178 0 genome.wustl.edu 37 18 30913143 30913143 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 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 47 0 0 11 17 60.7143 FHOD3 0 genome.wustl.edu 37 18 34205516 34205516 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 18 34205516 34205516 C - DEL FHOD3 ENST00000257209 human ensembl 74_37 +1 known frame_shift_del c.1000 p.S336fs 0.999 superfamily_ARM-type_fold pfam_FH2_Formin,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors FHOD3 HGNC ENSG00000134775 115 0 0 42 42 50 ZBTB7C 0 genome.wustl.edu 37 18 45567075 45567076 + Frame_Shift_Ins INS - - C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 18 45567075 45567076 - C INS ZBTB7C ENST00000332053 human ensembl 74_37 -1 known frame_shift_ins c.404_403 p.E135fs 1.000:0.994 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 ZBTB7C HGNC ENSG00000184828 49 0 0 23 7 23.3333 LMAN1 0 genome.wustl.edu 37 18 57013194 57013194 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 18 57013194 57013194 T - DEL LMAN1 ENST00000251047 human ensembl 74_37 -1 known frame_shift_del c.912 p.E305fs 0.898 superfamily_HMG_box_dom pfam_Lectin_leg,superfamily_ConA-like_lec_gl_sf,superfamily_HMG_box_dom - no_errors LMAN1 HGNC ENSG00000074695 113 1 0.877193 34 57 62.6374 SERPINB12 0 genome.wustl.edu 37 18 61228376 61228376 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 18 61228376 61228376 A - DEL SERPINB12 ENST00000269491 human ensembl 74_37 +1 known frame_shift_del c.443 p.N150fs 0.009 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINB12 HGNC ENSG00000166634 119 0 0 52 19 26.7606 ADNP2 0 genome.wustl.edu 37 18 77894261 77894261 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 18 77894261 77894261 C - DEL ADNP2 ENST00000262198 human ensembl 74_37 +1 known frame_shift_del c.965 p.P324fs 0.000 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ADNP2 HGNC ENSG00000101544 110 0 0 70 52 42.623 RAVER1 0 genome.wustl.edu 37 19 10433397 10433397 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 10433397 10433397 G - DEL RAVER1 ENST00000293677 human ensembl 74_37 -1 known frame_shift_del c.1148 p.P383fs 0.994 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RAVER1 HGNC ENSG00000161847 11 0 0 8 4 33.3333 TYK2 0 genome.wustl.edu 37 19 10476274 10476274 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 10476274 10476274 C - DEL TYK2 ENST00000264818 human ensembl 74_37 -1 known frame_shift_del c.930 p.P312fs 0.000 pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_Prot_kinase_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_TYK2_N - no_errors TYK2 HGNC ENSG00000105397 92 0 0 67 27 28.7234 ELAVL3 0 genome.wustl.edu 37 19 11577604 11577605 + Frame_Shift_Ins INS - - C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 11577604 11577605 - C INS ELAVL3 ENST00000359227 human ensembl 74_37 -1 known frame_shift_ins c.48_47 p.A18fs 1.000:1.000 NULL pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF - no_errors ELAVL3 HGNC ENSG00000196361 37 0 0 37 8 17.7778 ZNF878 0 genome.wustl.edu 37 19 12155504 12155504 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 12155504 12155504 A - DEL ZNF878 ENST00000602107 human ensembl 74_37 -1 known frame_shift_del c.853 p.S285fs 0.007 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 ZNF878 HGNC ENSG00000257446 105 0 0 78 8 9.30233 C19orf26 0 genome.wustl.edu 37 19 1229343 1229343 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 1229343 1229343 C - DEL C19orf26 ENST00000382477 human ensembl 74_37 -1 known frame_shift_del c.2013 p.C672fs 0.006 NULL NULL - no_errors C19orf26 HGNC ENSG00000099625 8 0 0 8 4 33.3333 MIDN 0 genome.wustl.edu 37 19 1254338 1254338 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 1254338 1254338 C - DEL MIDN ENST00000300952 human ensembl 74_37 +1 known frame_shift_del c.557 p.V188fs 0.027 NULL pfam_Ubiquitin_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup - no_errors MIDN HGNC ENSG00000167470 11 0 0 10 5 33.3333 MRI1 0 genome.wustl.edu 37 19 13882968 13882968 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 13882968 13882968 C - DEL MRI1 ENST00000040663 human ensembl 74_37 +1 known frame_shift_del c.983 p.H330fs 1.000 pfam_IF-2B-related,tigrfam_IF-2BI_MTNA,tigrfam_Initiation_fac_2B_a/b/d pfam_IF-2B-related,tigrfam_IF-2BI_MTNA,tigrfam_Initiation_fac_2B_a/b/d - no_errors MRI1 HGNC ENSG00000037757 125 0 0 59 30 33.7079 MIR27A 0 genome.wustl.edu 37 19 13947256 13947256 + RNA DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 13947256 13947256 G - DEL MIR27A ENST00000385073 human ensembl 74_37 -1 known rna NULL NULL 0.760 - - - no_errors MIR27A HGNC ENSG00000207808 21 0 0 15 6 28.5714 C19orf57 0 genome.wustl.edu 37 19 14000445 14000445 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 14000445 14000445 G - DEL C19orf57 ENST00000454313 human ensembl 74_37 -1 known frame_shift_del c.1224 p.G409fs 0.000 NULL NULL - no_errors C19orf57 HGNC ENSG00000132016 63 0 0 49 7 12.5 CC2D1A 0 genome.wustl.edu 37 19 14038730 14038730 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 14038730 14038730 G - DEL CC2D1A ENST00000318003 human ensembl 74_37 +1 known frame_shift_del c.2341 p.R783fs 0.999 superfamily_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_DM14,smart_C2_dom - no_errors CC2D1A HGNC ENSG00000132024 247 0 0 145 42 22.4599 DAZAP1 0 genome.wustl.edu 37 19 1430254 1430254 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 1430254 1430254 C - DEL DAZAP1 ENST00000233078 human ensembl 74_37 +1 known frame_shift_del c.764 p.P257fs 0.998 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors DAZAP1 HGNC ENSG00000071626 36 0 0 21 9 30 APC2 0 genome.wustl.edu 37 19 1468912 1468912 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 1468912 1468912 C - DEL APC2 ENST00000233607 human ensembl 74_37 +1 known frame_shift_del c.5612 p.S1873fs 0.997 pfam_APC_basic_dom pfam_APC_basic_dom,pfam_APC_dom,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_SAMP,superfamily_ARM-type_fold,superfamily_Prefoldin,smart_Armadillo - no_errors APC2 HGNC ENSG00000115266 9 0 0 9 3 25 OR10H4 0 genome.wustl.edu 37 19 16059877 16059877 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 16059877 16059877 C - DEL OR10H4 ENST00000322107 human ensembl 74_37 +1 known frame_shift_del c.60 p.Q22fs 0.041 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10H4 HGNC ENSG00000176231 333 0 0 118 62 34.4444 GTPBP3 0 genome.wustl.edu 37 19 17448716 17448716 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 17448716 17448716 C - DEL GTPBP3 ENST00000600610 human ensembl 74_37 +1 known frame_shift_del c.87 p.T32fs 0.002 NULL NULL - no_errors GTPBP3 HGNC ENSG00000130299 19 0 0 8 6 42.8571 CRTC1 0 genome.wustl.edu 37 19 18887993 18887993 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 18887993 18887993 C - DEL CRTC1 ENST00000338797 human ensembl 74_37 +1 known frame_shift_del c.1754 p.S588fs 1.000 NULL NULL - no_errors CRTC1 HGNC ENSG00000105662 129 0 0 81 53 39.5522 BTBD2 0 genome.wustl.edu 37 19 1986508 1986508 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 1986508 1986508 G - DEL BTBD2 ENST00000255608 human ensembl 74_37 -1 known frame_shift_del c.1557 p.E520fs 0.024 pfam_PHR pfam_PHR,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors BTBD2 HGNC ENSG00000133243 85 0 0 79 15 15.9574 ZNF506 0 genome.wustl.edu 37 19 19906351 19906351 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 19906351 19906351 T - DEL ZNF506 ENST00000443905 human ensembl 74_37 -1 known frame_shift_del c.345 p.G116fs 0.861 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF506 HGNC ENSG00000081665 75 0 0 73 7 8.75 ZNF737 0 genome.wustl.edu 37 19 20728495 20728496 + Frame_Shift_Ins INS - - T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 20728495 20728496 - T INS ZNF737 ENST00000427401 human ensembl 74_37 -1 known frame_shift_ins c.514_513 p.P171fs 0.010:0.008 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF737 HGNC ENSG00000237440 33 0 0 21 11 34.375 ENSG00000266156 0 genome.wustl.edu 37 19 20988370 20988370 + RNA DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 20988370 20988370 T - DEL ENSG00000266156 ENST00000582722 human ensembl 74_37 +1 novel rna NULL NULL 0.001 - - - no_errors AC010329.1 Clone_based_ensembl_gene ENSG00000266156 27 0 0 9 10 52.6316 SLC39A3 0 genome.wustl.edu 37 19 2737117 2737118 + Frame_Shift_Del DEL AG AG - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 2737117 2737118 AG - DEL SLC39A3 ENST00000269740 human ensembl 74_37 -1 known frame_shift_del c.139_138 p.C47fs 1.000:1.000 pfam_ZIP pfam_ZIP - no_errors SLC39A3 HGNC ENSG00000141873 71 0 0 53 18 25.3521 RGS9BP 0 genome.wustl.edu 37 19 33167776 33167776 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 33167776 33167776 G - DEL RGS9BP ENST00000334176 human ensembl 74_37 +1 known frame_shift_del c.607 p.G205fs 0.000 NULL NULL - no_errors RGS9BP HGNC ENSG00000186326 15 0 0 24 16 40 KMT2B 0 genome.wustl.edu 37 19 36210763 36210764 + Frame_Shift_Ins INS - - C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 36210763 36210764 - C INS KMT2B ENST00000222270 human ensembl 74_37 +1 known frame_shift_ins c.514_515 p.K176fs 0.976:0.976 pirsf_MeTrfase_trithorax pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors KMT2B Uniprot_gn ENSG00000272333 173 1 0.574713 96 59 38.0645 KMT2B 0 genome.wustl.edu 37 19 36214728 36214728 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 36214728 36214728 G - DEL KMT2B ENST00000222270 human ensembl 74_37 +1 known frame_shift_del c.3154 p.R1055fs 1.000 pirsf_MeTrfase_trithorax pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors KMT2B Uniprot_gn ENSG00000272333 21 0 0 18 7 28 ARHGAP33 0 genome.wustl.edu 37 19 36268609 36268610 + Frame_Shift_Ins INS - - G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 36268609 36268610 - G INS ARHGAP33 ENST00000007510 human ensembl 74_37 +1 known frame_shift_ins c.69_70 p.P25fs 0.530:0.997 NULL pfam_RhoGAP_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Phox,smart_SH3_domain,smart_RhoGAP_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors ARHGAP33 HGNC ENSG00000004777 26 0 0 15 13 46.4286 KIRREL2 0 genome.wustl.edu 37 19 36357214 36357214 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 36357214 36357214 C - DEL KIRREL2 ENST00000360202 human ensembl 74_37 +1 known frame_shift_del c.1947 p.C652fs 0.003 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors KIRREL2 HGNC ENSG00000126259 152 1 0.653595 111 93 45.5882 ZNF382 0 genome.wustl.edu 37 19 37118176 37118176 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 37118176 37118176 G - DEL ZNF382 ENST00000292928 human ensembl 74_37 +1 known frame_shift_del c.1377 p.E461fs 0.909 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 ZNF382 HGNC ENSG00000161298 66 0 0 86 22 20.3704 ZNF345 0 genome.wustl.edu 37 19 37368503 37368504 + Frame_Shift_Del DEL AT AT - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 AT AT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 37368503 37368504 AT - DEL ZNF345 ENST00000420450 human ensembl 74_37 +1 known frame_shift_del c.771_772 p.I259fs 0.118:0.124 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF345 HGNC ENSG00000251247 96 0 0 21 32 60.3774 MATK 0 genome.wustl.edu 37 19 3778509 3778509 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 3778509 3778509 T - DEL MATK ENST00000395045 human ensembl 74_37 -1 known frame_shift_del c.1285 p.M429fs 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 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,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 - no_errors MATK HGNC ENSG00000007264 38 0 0 36 10 21.7391 SPRED3 0 genome.wustl.edu 37 19 38881062 38881062 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 38881062 38881062 G - DEL SPRED3 ENST00000338502 human ensembl 74_37 +1 known frame_shift_del c.120 p.A43fs 1.000 smart_WH1/EVH1,pfscan_WH1/EVH1 pfam_Sprouty,pfam_WH1/EVH1,smart_WH1/EVH1,pfscan_WH1/EVH1 - no_errors SPRED3 HGNC ENSG00000188766 19 0 0 15 15 50 SPRED3 0 genome.wustl.edu 37 19 38882864 38882866 + In_Frame_Del DEL CCT CCT - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 CCT CCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 38882864 38882866 CCT - DEL SPRED3 ENST00000338502 human ensembl 74_37 +1 known in_frame_del c.359_361 p.S124in_frame_del 1.000:0.995:0.997 NULL pfam_Sprouty,pfam_WH1/EVH1,smart_WH1/EVH1,pfscan_WH1/EVH1 - no_errors SPRED3 HGNC ENSG00000188766 32 0 0 31 3 8.82353 RYR1 0 genome.wustl.edu 37 19 38996554 38996554 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 38996554 38996554 A - DEL RYR1 ENST00000359596 human ensembl 74_37 +1 known frame_shift_del c.8509 p.T2839fs 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 69 0 0 101 7 6.48148 ZFP36 0 genome.wustl.edu 37 19 39899071 39899071 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 39899071 39899071 C - DEL ZFP36 ENST00000597629 human ensembl 74_37 +1 known frame_shift_del c.731 p.L246fs 0.866 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZFP36 HGNC ENSG00000128016 104 0 0 120 35 22.5806 FBL 0 genome.wustl.edu 37 19 40325193 40325193 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 40325193 40325193 G - DEL FBL ENST00000221801 human ensembl 74_37 -1 known frame_shift_del c.951 p.K318fs 1.000 NULL pfam_Fibrillarin,pirsf_Fibrillarin,prints_Fibrillarin - no_errors FBL HGNC ENSG00000105202 172 0 0 170 47 21.659 TTC9B 0 genome.wustl.edu 37 19 40723198 40723198 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 40723198 40723198 C - DEL TTC9B ENST00000311308 human ensembl 74_37 -1 known frame_shift_del c.506 p.G169fs 1.000 pfscan_TPR-contain_dom pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC9B HGNC ENSG00000174521 55 0 0 25 28 52.8302 SIRT6 0 genome.wustl.edu 37 19 4180893 4180893 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 4180893 4180893 G - DEL SIRT6 ENST00000337491 human ensembl 74_37 -1 known frame_shift_del c.80 p.P27fs 0.998 NULL pfam_Sirtuin,pfscan_Ssirtuin_cat_dom - no_errors SIRT6 HGNC ENSG00000077463 59 0 0 46 11 19.2982 CD79A 0 genome.wustl.edu 37 19 42383610 42383610 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 42383610 42383610 C - DEL CD79A ENST00000221972 human ensembl 74_37 +1 known frame_shift_del c.385 p.R131fs 0.007 NULL pfam_Ig_V-set,pfam_Ig_I-set,pfam_Phos_immunorcpt_sig_ITAM,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Phos_immunorcpt_sig_ITAM,pfscan_Phos_immunorcpt_sig_ITAM,pfscan_Ig-like_dom - no_errors CD79A HGNC ENSG00000105369 15 0 0 19 6 24 ZNF428 0 genome.wustl.edu 37 19 44111874 44111875 + In_Frame_Ins INS - - TCC TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 44111874 44111875 - TCC INS ZNF428 ENST00000300811 human ensembl 74_37 -1 known in_frame_ins c.462_461 p.158in_frame_insE 0.000:0.006 NULL pfscan_Znf_C2H2 - no_errors ZNF428 HGNC ENSG00000131116 32 0 0 46 12 20.6897 ZNF234 0 genome.wustl.edu 37 19 44654608 44654608 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 44654608 44654608 A - DEL ZNF234 ENST00000426739 human ensembl 74_37 +1 known frame_shift_del c.185 p.K64fs 0.000 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 ZNF234 HGNC ENSG00000263002 12 0 0 6 8 57.1429 ZNF180 0 genome.wustl.edu 37 19 44982338 44982338 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 44982338 44982338 T - DEL ZNF180 ENST00000221327 human ensembl 74_37 -1 known frame_shift_del c.360 p.D121fs 0.021 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 ZNF180 HGNC ENSG00000167384 70 0 0 35 19 35.1852 APOC1 0 genome.wustl.edu 37 19 45419666 45419666 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 45419666 45419666 A - DEL APOC1 ENST00000592885 human ensembl 74_37 +1 novel frame_shift_del c.278 p.T96fs 0.005 NULL pfam_ApoC-I - no_errors APOC1 HGNC ENSG00000130208 26 0 0 24 10 29.4118 ERCC2 0 genome.wustl.edu 37 19 45855886 45855886 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 45855886 45855886 C - DEL ERCC2 ENST00000391945 human ensembl 74_37 -1 known frame_shift_del c.1924 p.D642fs 1.000 superfamily_P-loop_NTPase,smart_ATP-dep_Helicase_C,prints_XPGD_DNA_repair,tigrfam_DNA_helicase_DNA-repair_Rad3 pfam_DUF1227,pfam_DEAD_2,superfamily_P-loop_NTPase,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,prints_XPGD_DNA_repair,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 - no_errors ERCC2 HGNC ENSG00000104884 59 0 0 61 46 42.9907 PPP1R13L 0 genome.wustl.edu 37 19 45899436 45899436 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 45899436 45899436 C - DEL PPP1R13L ENST00000360957 human ensembl 74_37 -1 known frame_shift_del c.893 p.G298fs 0.140 NULL pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SH3_domain,prints_SH3_domain - no_errors PPP1R13L HGNC ENSG00000104881 29 0 0 8 12 60 TICAM1 0 genome.wustl.edu 37 19 4816465 4816465 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 4816465 4816465 G - DEL TICAM1 ENST00000248244 human ensembl 74_37 -1 known frame_shift_del c.1925 p.P642fs 0.003 pirsf_TICAM1 superfamily_TIR_dom,pirsf_TICAM1 - no_errors TICAM1 HGNC ENSG00000127666 41 0 0 32 9 21.9512 FAM83E 0 genome.wustl.edu 37 19 49107038 49107038 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 49107038 49107038 G - DEL FAM83E ENST00000263266 human ensembl 74_37 -1 known frame_shift_del c.889 p.Q297fs 0.001 NULL pfam_DUF1669,superfamily_Acyl_CoA_acyltransferase - no_errors FAM83E HGNC ENSG00000105523 34 0 0 44 11 20 BAX 0 genome.wustl.edu 37 19 49458971 49458971 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 49458971 49458971 G - DEL BAX ENST00000293288 human ensembl 74_37 +1 known frame_shift_del c.114 p.E41fs 0.588 NULL pfam_Blc2_fam,pfscan_Bcl2-like,prints_Blc2_fam - no_errors BAX HGNC ENSG00000087088 100 0 0 67 59 46.8254 SNRNP70 0 genome.wustl.edu 37 19 49611078 49611083 + Splice_Site DEL GGGACC GGGACC - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 GGGACC GGGACC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 49611078 49611083 GGGACC - DEL SNRNP70 ENST00000221448 human ensembl 74_37 +1 known splice_site_del c.666-1_666-1 e9-1 1.000:1.000:1.000:1.000:1.000:1.000 - - - no_errors SNRNP70 HGNC ENSG00000104852 17 0 0 21 7 25 SCAF1 0 genome.wustl.edu 37 19 50158042 50158042 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 50158042 50158042 C - DEL SCAF1 ENST00000360565 human ensembl 74_37 +1 known frame_shift_del c.3533 p.T1181fs 0.934 NULL NULL - no_errors SCAF1 HGNC ENSG00000126461 86 0 0 27 73 73 SHANK1 0 genome.wustl.edu 37 19 51220109 51220109 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 51220109 51220109 C - DEL SHANK1 ENST00000391814 human ensembl 74_37 -1 known frame_shift_del c.68 p.G23fs 0.997 NULL pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SH3_2,pfam_SAM_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SH3_domain,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain - no_errors SHANK1 HGNC ENSG00000161681 17 0 0 16 13 44.8276 SIGLEC9 0 genome.wustl.edu 37 19 51633196 51633196 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 51633196 51633196 C - DEL SIGLEC9 ENST00000250360 human ensembl 74_37 +1 known frame_shift_del c.1252 p.P419fs 0.019 NULL pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like_dom - no_errors SIGLEC9 HGNC ENSG00000129450 158 0 0 74 73 49.6599 SIGLEC17P 0 genome.wustl.edu 37 19 51671447 51671447 + RNA DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 51671447 51671447 C - DEL SIGLEC17P ENST00000341811 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors SIGLEC17P HGNC ENSG00000171101 57 0 0 111 49 30.625 PTPRS 0 genome.wustl.edu 37 19 5222731 5222731 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 5222731 5222731 G - DEL PTPRS ENST00000372412 human ensembl 74_37 -1 known frame_shift_del c.3075 p.V1026fs 0.579 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom - no_errors PTPRS HGNC ENSG00000105426 46 0 0 26 3 10.3448 PTPRS 0 genome.wustl.edu 37 19 5244243 5244243 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 5244243 5244243 G - DEL PTPRS ENST00000372412 human ensembl 74_37 -1 known frame_shift_del c.1242 p.S415fs 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom - no_errors PTPRS HGNC ENSG00000105426 72 0 0 45 25 35.7143 ZNF613 0 genome.wustl.edu 37 19 52447817 52447818 + Frame_Shift_Ins INS - - G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 52447817 52447818 - G INS ZNF613 ENST00000293471 human ensembl 74_37 +1 known frame_shift_ins c.681_682 p.E228fs 0.955:1.000 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 ZNF613 HGNC ENSG00000176024 214 0 0 240 54 18.3673 LOC101928780 0 genome.wustl.edu 37 19 54627848 54627848 + RNA DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 54627848 54627848 C - DEL LOC101928780 ENST00000452097 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AC012314.8 Clone_based_vega_gene ENSG00000237017 143 0 0 123 32 20.6452 LOC101928780 0 genome.wustl.edu 37 19 54628061 54628061 + RNA DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 54628061 54628061 C - DEL LOC101928780 ENST00000452097 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AC012314.8 Clone_based_vega_gene ENSG00000237017 65 0 0 64 19 22.8916 PPP1R12C 0 genome.wustl.edu 37 19 55607456 55607456 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 55607456 55607456 G - DEL PPP1R12C ENST00000263433 human ensembl 74_37 -1 known frame_shift_del c.1116 p.I373fs 0.157 pirsf_Pase-1_reg_su_12A/B/C_euk pirsf_Pase-1_reg_su_12A/B/C_euk,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors PPP1R12C HGNC ENSG00000125503 140 0 0 107 44 29.1391 U2AF2 0 genome.wustl.edu 37 19 56171887 56171887 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 56171887 56171887 C - DEL U2AF2 ENST00000308924 human ensembl 74_37 +1 known frame_shift_del c.236 p.R81fs 1.000 tigrfam_U2AF_lg pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_U2AF_lg - no_errors U2AF2 HGNC ENSG00000063244 42 0 0 49 11 18.3333 EPN1 0 genome.wustl.edu 37 19 56203184 56203184 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 56203184 56203184 G - DEL EPN1 ENST00000411543 human ensembl 74_37 +1 known frame_shift_del c.1085 p.G364fs 1.000 NULL pfam_Epsin_dom_N,pfam_ANTH_dom,superfamily_ENTH_VHS,smart_Epsin-like_N,smart_Ubiquitin-int_motif,pfscan_Epsin-like_N,pfscan_Ubiquitin-int_motif - no_errors EPN1 HGNC ENSG00000063245 145 0 0 145 23 13.6905 ZNF814 0 genome.wustl.edu 37 19 58384582 58384583 + Frame_Shift_Ins INS - - A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 58384582 58384583 - A INS ZNF814 ENST00000435989 human ensembl 74_37 -1 known frame_shift_ins c.2176_2175 p.R725fs 0.215:0.342 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 ZNF814 HGNC ENSG00000204514 31 0 0 29 7 19.4444 ZSCAN1 0 genome.wustl.edu 37 19 58565357 58565357 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 58565357 58565357 T - DEL ZSCAN1 ENST00000282326 human ensembl 74_37 +1 known frame_shift_del c.1165 p.F389fs 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN1 HGNC ENSG00000152467 29 0 0 31 9 22.5 FGF22 0 genome.wustl.edu 37 19 643528 643528 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 643528 643528 G - DEL FGF22 ENST00000215530 human ensembl 74_37 +1 known frame_shift_del c.437 p.150fs 0.001 pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam - no_errors FGF22 HGNC ENSG00000070388 25 0 0 9 14 60.8696 TIMM44 0 genome.wustl.edu 37 19 8002975 8002975 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 8002975 8002975 T - DEL TIMM44 ENST00000270538 human ensembl 74_37 -1 known frame_shift_del c.249 p.K83fs 0.998 pirsf_Tim44,tigrfam_Tim44 pfam_Tim44-like_dom,smart_Tim44-like_dom,pirsf_Tim44,tigrfam_Tim44 - no_errors TIMM44 HGNC ENSG00000104980 239 0 0 113 26 18.705 FBN3 0 genome.wustl.edu 37 19 8196625 8196625 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 19 8196625 8196625 C - DEL FBN3 ENST00000270509 human ensembl 74_37 -1 known frame_shift_del c.1803 p.L602fs 0.999 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN3 HGNC ENSG00000142449 43 0 0 32 13 28.8889 GRHL1 0 genome.wustl.edu 37 2 10140799 10140800 + Frame_Shift_Ins INS - - G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 10140799 10140800 - G INS GRHL1 ENST00000324907 human ensembl 74_37 +1 known frame_shift_ins c.1821_1822 p.S609fs 0.000:0.991 NULL pfam_CP2 - no_errors GRHL1 HGNC ENSG00000134317 217 0 0 184 18 8.91089 IL1R2 0 genome.wustl.edu 37 2 102644749 102644749 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 102644749 102644749 G - DEL IL1R2 ENST00000332549 human ensembl 74_37 +1 known frame_shift_del c.1092 p.G366fs 0.985 prints_IL-1_rcpt_II-typ pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom,prints_IL-1_rcpt_II-typ,prints_IL-1_rcpt_I/II-typ - no_errors IL1R2 HGNC ENSG00000115590 128 0 0 75 33 30.5556 ATP6V1C2 0 genome.wustl.edu 37 2 10912688 10912688 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 10912688 10912688 A - DEL ATP6V1C2 ENST00000272238 human ensembl 74_37 +1 known frame_shift_del c.590 p.T199fs 1.000 pfam_ATPase_V1-cplx_csu pfam_ATPase_V1-cplx_csu - no_errors ATP6V1C2 HGNC ENSG00000143882 471 0 0 459 34 6.89655 RANBP2 0 genome.wustl.edu 37 2 109389413 109389413 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 109389413 109389413 T - DEL RANBP2 ENST00000283195 human ensembl 74_37 +1 known frame_shift_del c.8203 p.C2737fs 0.997 pfam_IR1-M pfam_Ran_bind_dom,pfam_Znf_RanBP2,pfam_IR1-M,pfam_Cyclophilin-like_PPIase_dom,pfam_TPR_1,superfamily_Cyclophilin-like_PPIase_dom,smart_TPR_repeat,smart_Ran_bind_dom,smart_Znf_RanBP2,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RanBP2,pfscan_Cyclophilin-like_PPIase_dom,pfscan_Ran_bind_dom,prints_Cyclophilin-like_PPIase_dom - no_errors RANBP2 HGNC ENSG00000153201 33 0 0 15 4 21.0526 SEPT10 0 genome.wustl.edu 37 2 110301828 110301828 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 110301828 110301828 T - DEL SEPT10 ENST00000356688 human ensembl 74_37 -1 putative frame_shift_del c.1506 p.K502fs 0.004 NULL pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase - no_errors SEPT10 HGNC ENSG00000186522 58 0 0 17 9 34.6154 NPHP1 0 genome.wustl.edu 37 2 110926098 110926098 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 110926098 110926098 T - DEL NPHP1 ENST00000316534 human ensembl 74_37 -1 known frame_shift_del c.555 p.K185fs 0.398 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors NPHP1 HGNC ENSG00000144061 133 0 0 48 24 33.3333 CHCHD5 0 genome.wustl.edu 37 2 113346506 113346507 + RNA INS - - C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 113346506 113346507 - C INS CHCHD5 ENST00000469030 human ensembl 74_37 +1 known rna NULL NULL 0.001:0.000 - - - no_errors CHCHD5 HGNC ENSG00000125611 33 0 0 24 3 11.1111 PAX8 0 genome.wustl.edu 37 2 113993122 113993122 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 113993122 113993122 G - DEL PAX8 ENST00000429538 human ensembl 74_37 -1 known frame_shift_del c.936 p.E313fs 0.996 NULL pfam_Paired_dom,pfam_Pax2_C,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX8 HGNC ENSG00000125618 53 0 0 44 23 34.3284 CYP27C1 0 genome.wustl.edu 37 2 127944877 127944877 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 127944877 127944877 G - DEL CYP27C1 ENST00000335247 human ensembl 74_37 -1 known frame_shift_del c.1089 p.I364fs 0.995 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP27C1 HGNC ENSG00000186684 104 0 0 68 18 20.9302 CYP27C1 0 genome.wustl.edu 37 2 127944879 127944880 + Frame_Shift_Ins INS - - C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 127944879 127944880 - C INS CYP27C1 ENST00000335247 human ensembl 74_37 -1 known frame_shift_ins c.1087_1086 p.P362fs 0.228:0.196 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP27C1 HGNC ENSG00000186684 97 0 0 57 27 32.1429 ERCC3 0 genome.wustl.edu 37 2 128030506 128030506 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 128030506 128030506 C - DEL ERCC3 ENST00000285398 human ensembl 74_37 -1 known frame_shift_del c.1762 p.E588fs 1.000 pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C,tigrfam_Helicase_Ercc3 pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_Helicase_Ercc3,tigrfam_Helicase_Ercc3 - no_errors ERCC3 HGNC ENSG00000163161 94 0 0 43 17 28.3333 IWS1 0 genome.wustl.edu 37 2 128238676 128238676 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 128238676 128238676 T - DEL IWS1 ENST00000295321 human ensembl 74_37 -1 known frame_shift_del c.2404 p.S802fs 1.000 NULL pfam_TFIIS_N,superfamily_TFIIS_N - no_errors IWS1 HGNC ENSG00000163166 115 0 0 68 29 29.8969 NXPH2 0 genome.wustl.edu 37 2 139428706 139428707 + Frame_Shift_Ins INS - - T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 139428706 139428707 - T INS NXPH2 ENST00000272641 human ensembl 74_37 -1 known frame_shift_ins c.581_580 p.T194fs 1.000:1.000 pfam_NXPH/NXPE,pirsf_Neurexophilin pfam_NXPH/NXPE,pirsf_Neurexophilin - no_errors NXPH2 HGNC ENSG00000144227 44 0 0 23 12 34.2857 ACVR2A 0 genome.wustl.edu 37 2 148683686 148683686 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 148683686 148683686 A - DEL ACVR2A ENST00000241416 human ensembl 74_37 +1 known frame_shift_del c.1303 p.K437fs 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,prints_TGFB_receptor - no_errors ACVR2A HGNC ENSG00000121989 141 0 0 26 39 60 RIF1 0 genome.wustl.edu 37 2 152320541 152320541 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 152320541 152320541 A - DEL RIF1 ENST00000243326 human ensembl 74_37 +1 known frame_shift_del c.4507 p.K1505fs 0.001 NULL pfam_Rif1_N,superfamily_ARM-type_fold - no_errors RIF1 HGNC ENSG00000080345 104 0 0 63 28 30.7692 KCNJ3 0 genome.wustl.edu 37 2 155711558 155711559 + Frame_Shift_Ins INS - - A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 155711558 155711559 - A INS KCNJ3 ENST00000295101 human ensembl 74_37 +1 known frame_shift_ins c.1239_1240 p.L415fs 0.994:1.000 pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir3.1 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir3.1,prints_K_chnl_inward-rec_Kir - no_errors KCNJ3 HGNC ENSG00000162989 155 0 0 75 41 35.3448 NR4A2 0 genome.wustl.edu 37 2 157186374 157186374 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 157186374 157186374 G - DEL NR4A2 ENST00000539077 human ensembl 74_37 -1 known frame_shift_del c.358 p.Q120fs 1.000 prints_NURR_rcpt pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_NURR_rcpt,prints_Nuc_orph_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt - no_errors NR4A2 HGNC ENSG00000153234 102 0 0 82 12 12.766 GCG 0 genome.wustl.edu 37 2 163003894 163003895 + Frame_Shift_Ins INS - - A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 163003894 163003895 - A INS GCG ENST00000375497 human ensembl 74_37 -1 known frame_shift_ins c.223_222 p.V74fs 1.000:1.000 pfam_Glucagon_GIP_secretin_VIP,smart_Glucagon_GIP_secretin_VIP,prints_Glucagon_GIP_secretin_VIP pfam_Glucagon_GIP_secretin_VIP,smart_Glucagon_GIP_secretin_VIP,prints_Glucagon_GIP_secretin_VIP - no_errors GCG HGNC ENSG00000115263 226 0 0 133 37 21.7647 PXDN 0 genome.wustl.edu 37 2 1652960 1652960 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 1652960 1652960 G - DEL PXDN ENST00000252804 human ensembl 74_37 -1 known frame_shift_del c.2592 p.N865fs 1.000 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom - no_errors PXDN HGNC ENSG00000130508 36 0 0 40 13 24.5283 COBLL1 0 genome.wustl.edu 37 2 165551296 165551296 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 165551296 165551296 A - DEL COBLL1 ENST00000194871 human ensembl 74_37 -1 known frame_shift_del c.2921 p.L974fs 0.972 NULL pfam_Cordon-bleu_ubiquitin_domain,pfscan_WH2_dom - no_errors COBLL1 HGNC ENSG00000082438 52 0 0 14 35 71.4286 SCN3A 0 genome.wustl.edu 37 2 165984441 165984441 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 165984441 165984441 A - DEL SCN3A ENST00000283254 human ensembl 74_37 -1 known frame_shift_del c.3093 p.F1031fs 0.978 pfam_Na_trans_assoc pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN3A HGNC ENSG00000153253 111 0 0 34 21 38.1818 SCN9A 0 genome.wustl.edu 37 2 167168247 167168247 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 167168247 167168247 G - DEL SCN9A ENST00000303354 human ensembl 74_37 -1 known frame_shift_del c.20 p.P7fs 1.000 NULL pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN9A HGNC ENSG00000169432 81 0 0 45 27 37.5 NOSTRIN 0 genome.wustl.edu 37 2 169699563 169699563 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 169699563 169699563 A - DEL NOSTRIN ENST00000444448 human ensembl 74_37 +1 known frame_shift_del c.566 p.N191fs 1.000 NULL pfam_SH3_domain,pfam_SH3_2,pfam_FCH_dom,superfamily_SH3_domain,superfamily_HR1_rho-bd,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain,prints_SH3_domain - no_errors NOSTRIN HGNC ENSG00000163072 63 0 0 29 12 29.2683 LRP2 0 genome.wustl.edu 37 2 169997025 169997025 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 169997025 169997025 G - DEL LRP2 ENST00000263816 human ensembl 74_37 -1 known frame_shift_del c.13139 p.P4380fs 1.000 superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP2 HGNC ENSG00000081479 65 0 0 45 13 22.4138 MYO3B 0 genome.wustl.edu 37 2 171191923 171191924 + Frame_Shift_Ins INS - - A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 171191923 171191924 - A INS MYO3B ENST00000334231 human ensembl 74_37 +1 known frame_shift_ins c.805_806 p.W271fs 0.997:1.000 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_Myosin_head_motor_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_dom,prints_Myosin_head_motor_dom - no_errors MYO3B HGNC ENSG00000071909 36 0 0 12 3 20 SP5 0 genome.wustl.edu 37 2 171573060 171573060 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 171573060 171573060 C - DEL SP5 ENST00000375281 human ensembl 74_37 +1 known frame_shift_del c.343 p.A117fs 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SP5 HGNC ENSG00000204335 36 0 0 41 10 19.6078 KIAA1715 0 genome.wustl.edu 37 2 176856973 176856973 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 176856973 176856973 A - DEL KIAA1715 ENST00000544803 human ensembl 74_37 -1 known frame_shift_del c.243 p.F81fs 1.000 NULL pfam_DUF2296 - no_errors KIAA1715 HGNC ENSG00000144320 59 0 0 20 6 23.0769 RAD51AP2 0 genome.wustl.edu 37 2 17697088 17697088 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 17697088 17697088 A - DEL RAD51AP2 ENST00000399080 human ensembl 74_37 -1 known frame_shift_del c.2595 p.P866fs 0.000 NULL NULL - no_errors RAD51AP2 HGNC ENSG00000214842 22 0 0 13 4 23.5294 HOXD3 0 genome.wustl.edu 37 2 177033976 177033976 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 177033976 177033976 C - DEL HOXD3 ENST00000249440 human ensembl 74_37 +1 known frame_shift_del c.134 p.H47fs 0.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXD3 HGNC ENSG00000128652 175 1 0.568182 89 38 29.9213 HNRNPA3 0 genome.wustl.edu 37 2 178077589 178077589 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 178077589 178077589 G - DEL HNRNPA3 ENST00000392524 human ensembl 74_37 +1 known frame_shift_del c.62 p.E23fs 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPA3 HGNC ENSG00000170144 8 0 0 1 5 83.3333 TTN 0 genome.wustl.edu 37 2 179398170 179398170 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 179398170 179398170 G - DEL TTN ENST00000342992 human ensembl 74_37 -1 known frame_shift_del c.95468 p.P31823fs 0.013 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 73 0 0 38 29 43.2836 TTN-AS1 0 genome.wustl.edu 37 2 179497149 179497149 + RNA DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 179497149 179497149 A - DEL TTN-AS1 ENST00000589907 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors TTN-AS1 HGNC ENSG00000237298 13 0 0 14 9 39.1304 ZSWIM2 0 genome.wustl.edu 37 2 187693167 187693167 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 187693167 187693167 T - DEL ZSWIM2 ENST00000295131 human ensembl 74_37 -1 known frame_shift_del c.1446 p.K482fs 0.061 NULL pfam_Znf_SWIM,pfam_Znf_ZZ,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Znf_ZZ - no_errors ZSWIM2 HGNC ENSG00000163012 60 0 0 27 10 27.027 COQ10B 0 genome.wustl.edu 37 2 198318517 198318518 + RNA INS - - T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 198318517 198318518 - T INS COQ10B ENST00000488445 human ensembl 74_37 +1 known rna NULL NULL 0.004:0.002 - - - no_errors COQ10B HGNC ENSG00000115520 11 0 0 8 5 38.4615 MARS2 0 genome.wustl.edu 37 2 198570830 198570830 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 198570830 198570830 C - DEL MARS2 ENST00000282276 human ensembl 74_37 +1 known frame_shift_del c.701 p.E236fs 0.356 pfam_Methionyl/Leucyl_tRNA_Synth,tigrfam_Met-tRNA_synth pfam_Methionyl/Leucyl_tRNA_Synth,pfam_aa-tRNA-synth_Ia,pfam_Cys-tRNA/MSH_ligase,superfamily_tRNAsynth_1a_anticodon-bd,prints_Met-tRNA_synth,tigrfam_Met-tRNA_synth - no_errors MARS2 HGNC ENSG00000247626 71 0 0 46 24 34.2857 BZW1 0 genome.wustl.edu 37 2 201685969 201685970 + Frame_Shift_Del DEL AG AG - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 201685969 201685970 AG - DEL BZW1 ENST00000409600 human ensembl 74_37 +1 known frame_shift_del c.1169_1170 p.S391fs 1.000:1.000 pfam_W2_domain,superfamily_ARM-type_fold,smart_W2_domain pfam_W2_domain,superfamily_ARM-type_fold,smart_W2_domain - no_errors BZW1 HGNC ENSG00000082153 105 0 0 63 30 32.2581 CASP10 0 genome.wustl.edu 37 2 202050593 202050593 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 202050593 202050593 G - DEL CASP10 ENST00000286186 human ensembl 74_37 +1 known frame_shift_del c.93 p.V33fs 0.107 pfam_DED,superfamily_DEATH-like_dom,smart_DED,pfscan_DED pfam_Pept_C14_caspase,pfam_DED,superfamily_DEATH-like_dom,smart_DED,smart_Pept_C14A_p45_core,prints_Pept_C14A_p45_core,pfscan_DED,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20 - no_errors CASP10 HGNC ENSG00000003400 95 0 0 48 20 29.4118 ALS2 0 genome.wustl.edu 37 2 202598175 202598175 + RNA DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 202598175 202598175 A - DEL ALS2 ENST00000494017 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors ALS2 HGNC ENSG00000003393 45 0 0 14 8 36.3636 BMPR2 0 genome.wustl.edu 37 2 203420130 203420130 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 203420130 203420130 A - DEL BMPR2 ENST00000374580 human ensembl 74_37 +1 known frame_shift_del c.1742 p.N583fs 1.000 NULL 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 95 0 0 52 35 40.2299 SDC1 0 genome.wustl.edu 37 2 20402089 20402090 + RNA INS - - C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 20402089 20402090 - C INS SDC1 ENST00000482879 human ensembl 74_37 -1 known rna NULL NULL 0.002:0.000 - - - no_errors SDC1 HGNC ENSG00000115884 29 0 0 30 7 18.9189 PARD3B 0 genome.wustl.edu 37 2 206166297 206166298 + Frame_Shift_Ins INS - - A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 206166297 206166298 - A INS PARD3B ENST00000406610 human ensembl 74_37 +1 known frame_shift_ins c.2502_2503 p.T836fs 0.617:0.996 NULL pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PARD3B HGNC ENSG00000116117 75 0 0 55 8 12.6984 ZDBF2 0 genome.wustl.edu 37 2 207172565 207172565 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 207172565 207172565 A - DEL ZDBF2 ENST00000374423 human ensembl 74_37 +1 known frame_shift_del c.3313 p.N1106fs 0.000 NULL pfam_Znf_DBF,smart_Znf_DBF - no_errors ZDBF2 HGNC ENSG00000204186 48 0 0 22 13 37.1429 HS1BP3 0 genome.wustl.edu 37 2 20840864 20840864 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 20840864 20840864 G - DEL HS1BP3 ENST00000304031 human ensembl 74_37 -1 known frame_shift_del c.275 p.P92fs 0.835 pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors HS1BP3 HGNC ENSG00000118960 317 0 0 159 29 15.4255 XRCC5 0 genome.wustl.edu 37 2 216992351 216992351 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 216992351 216992351 A - DEL XRCC5 ENST00000392132 human ensembl 74_37 +1 known frame_shift_del c.891 p.N298fs 1.000 pfam_Ku70/Ku80_beta-barrel_dom,superfamily_SPOC_like_C_dom pfam_Ku_N,pfam_Ku_PK_bind,pfam_Ku70/Ku80_beta-barrel_dom,pfam_Ku_C,superfamily_SPOC_like_C_dom,superfamily_Ku_PK_bind,smart_VWF_A,smart_Ku70/Ku80_beta-barrel_dom - no_errors XRCC5 HGNC ENSG00000079246 50 0 0 21 10 32.2581 IGFBP2 0 genome.wustl.edu 37 2 217525351 217525351 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 217525351 217525351 G - DEL IGFBP2 ENST00000233809 human ensembl 74_37 +1 known frame_shift_del c.514 p.G173fs 0.025 NULL pfam_Thyroglobulin_1,pfam_IGFBP-like,superfamily_Thyroglobulin_1,superfamily_Growth_fac_rcpt_N_dom,smart_IGFBP-like,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1,prints_IGFBP_1-6_chordata,prints_IGFBP-2 - no_errors IGFBP2 HGNC ENSG00000115457 43 0 0 38 14 26.9231 VIL1 0 genome.wustl.edu 37 2 219301231 219301231 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 219301231 219301231 C - DEL VIL1 ENST00000248444 human ensembl 74_37 +1 known frame_shift_del c.1853 p.R620fs 0.000 smart_Villin/Gelsolin pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin/Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Villin/Gelsolin - no_errors VIL1 HGNC ENSG00000127831 279 0 0 158 59 27.1889 SPEG 0 genome.wustl.edu 37 2 220337024 220337025 + Frame_Shift_Ins INS - - C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 220337024 220337025 - C INS SPEG ENST00000312358 human ensembl 74_37 +1 novel frame_shift_ins c.3911_3912 p.R1307fs 1.000:0.999 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,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 SPEG HGNC ENSG00000072195 72 0 0 57 16 21.9178 SPEG 0 genome.wustl.edu 37 2 220349122 220349122 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 220349122 220349122 C - DEL SPEG ENST00000312358 human ensembl 74_37 +1 novel frame_shift_del c.6937 p.R2315fs 0.003 NULL pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,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 SPEG HGNC ENSG00000072195 27 0 0 39 18 31.5789 KCNE4 0 genome.wustl.edu 37 2 223917787 223917787 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 223917787 223917787 G - DEL KCNE4 ENST00000281830 human ensembl 74_37 +1 known frame_shift_del c.392 p.E133fs 1.000 pfam_K_chnl_volt-dep_bsu_KCNE pfam_K_chnl_volt-dep_bsu_KCNE,prints_K_chnl_volt-dep_bsu_KCNE - no_errors KCNE4 HGNC ENSG00000152049 93 0 0 94 6 6 IRS1 0 genome.wustl.edu 37 2 227659841 227659841 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 227659841 227659841 G - DEL IRS1 ENST00000305123 human ensembl 74_37 -1 known frame_shift_del c.3614 p.P1205fs 0.000 NULL pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,prints_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1 - no_errors IRS1 HGNC ENSG00000169047 86 0 0 39 9 18.75 IRS1 0 genome.wustl.edu 37 2 227661395 227661396 + In_Frame_Ins INS - - TGC TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 227661395 227661396 - TGC INS IRS1 ENST00000305123 human ensembl 74_37 -1 known in_frame_ins c.2060_2059 p.687in_frame_insS 0.077:0.115 NULL pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,prints_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1 - no_errors IRS1 HGNC ENSG00000169047 128 0 0 75 31 29.2453 IRS1 0 genome.wustl.edu 37 2 227662195 227662195 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 227662195 227662195 G - DEL IRS1 ENST00000305123 human ensembl 74_37 -1 known frame_shift_del c.1260 p.S421fs 1.000 NULL pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,prints_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1 - no_errors IRS1 HGNC ENSG00000169047 137 0 0 117 59 33.5227 SP140 0 genome.wustl.edu 37 2 231159025 231159025 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 231159025 231159025 A - DEL SP140 ENST00000392045 human ensembl 74_37 +1 known frame_shift_del c.2008 p.K672fs 0.001 NULL pfam_Sp100,pfam_SAND_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom,pfscan_Bromodomain - no_errors SP140 HGNC ENSG00000079263 63 0 0 16 10 38.4615 UGT1A3 0 genome.wustl.edu 37 2 234638283 234638283 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 234638283 234638283 T - DEL UGT1A3 ENST00000482026 human ensembl 74_37 +1 known frame_shift_del c.511 p.L173fs 0.996 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT1A3 HGNC ENSG00000243135 293 0 0 135 64 32.1608 RBM44 0 genome.wustl.edu 37 2 238725799 238725800 + Frame_Shift_Ins INS - - T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 238725799 238725800 - T INS RBM44 ENST00000316997 human ensembl 74_37 +1 known frame_shift_ins c.240_241 p.S82fs 0.000:0.003 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM44 HGNC ENSG00000177483 95 0 0 58 28 32.5581 TRAF3IP1 0 genome.wustl.edu 37 2 239237830 239237830 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 239237830 239237830 G - DEL TRAF3IP1 ENST00000373327 human ensembl 74_37 +1 known frame_shift_del c.762 p.K257fs 0.019 NULL NULL - no_errors TRAF3IP1 HGNC ENSG00000204104 20 0 0 14 6 30 HDAC4 0 genome.wustl.edu 37 2 240002823 240002823 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 240002823 240002823 G - DEL HDAC4 ENST00000345617 human ensembl 74_37 -1 known frame_shift_del c.2703 p.M902fs 1.000 pfam_His_deacetylse_dom,pirsf_Histone_deAcase_II_euk pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pfam_Arb2_domain,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse - no_errors HDAC4 HGNC ENSG00000068024 38 0 0 28 11 28.2051 PDCD1 0 genome.wustl.edu 37 2 242795104 242795104 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 242795104 242795104 G - DEL PDCD1 ENST00000334409 human ensembl 74_37 -1 known frame_shift_del c.105 p.T36fs 0.990 pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors PDCD1 HGNC ENSG00000188389 11 0 0 9 3 25 ITSN2 0 genome.wustl.edu 37 2 24494710 24494710 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 24494710 24494710 T - DEL ITSN2 ENST00000355123 human ensembl 74_37 -1 known frame_shift_del c.2182 p.I728fs 0.998 NULL pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_dom,superfamily_DH-domain,superfamily_C2_dom,superfamily_SH3_domain,smart_EPS15_homology,smart_EF_hand_dom,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_dom,pfscan_EF_hand_dom,pfscan_EPS15_homology,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_p67phox - no_errors ITSN2 HGNC ENSG00000198399 122 0 0 41 20 32.7869 IFT172 0 genome.wustl.edu 37 2 27676932 27676932 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 27676932 27676932 C - DEL IFT172 ENST00000260570 human ensembl 74_37 -1 known frame_shift_del c.3628 p.A1210fs 0.994 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat - no_errors IFT172 HGNC ENSG00000138002 214 0 0 104 54 34.1772 C2orf71 0 genome.wustl.edu 37 2 29294038 29294038 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 29294038 29294038 G - DEL C2orf71 ENST00000331664 human ensembl 74_37 -1 known frame_shift_del c.3090 p.S1031fs 0.966 NULL NULL - no_errors C2orf71 HGNC ENSG00000179270 99 0 0 55 41 42.7083 TTC27 0 genome.wustl.edu 37 2 32859010 32859010 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 32859010 32859010 C - DEL TTC27 ENST00000317907 human ensembl 74_37 +1 known frame_shift_del c.334 p.P113fs 0.988 NULL pfam_TPR_2,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC27 HGNC ENSG00000018699 133 0 0 70 11 13.5802 OXER1 0 genome.wustl.edu 37 2 42991088 42991089 + Frame_Shift_Ins INS - - C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 42991088 42991089 - C INS OXER1 ENST00000378661 human ensembl 74_37 -1 known frame_shift_ins c.232_231 p.S77fs 0.000:0.001 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors OXER1 HGNC ENSG00000162881 54 0 0 33 18 35.2941 RHOQ 0 genome.wustl.edu 37 2 46808174 46808174 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 46808174 46808174 A - DEL RHOQ ENST00000238738 human ensembl 74_37 +1 known frame_shift_del c.570 p.R193fs 1.000 NULL 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 RHOQ HGNC ENSG00000119729 78 0 0 42 11 20.7547 LHCGR 0 genome.wustl.edu 37 2 48915172 48915172 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 48915172 48915172 A - DEL LHCGR ENST00000294954 human ensembl 74_37 -1 known frame_shift_del c.1764 p.F588fs 1.000 pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_LSH_rcpt,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn,prints_TSH_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors LHCGR HGNC ENSG00000138039 127 0 0 49 25 33.7838 PSME4 0 genome.wustl.edu 37 2 54093345 54093345 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 54093345 54093345 T - DEL PSME4 ENST00000404125 human ensembl 74_37 -1 known frame_shift_del c.5413 p.T1805fs 1.000 pfam_DUF3437,superfamily_ARM-type_fold pfam_DUF3437,superfamily_ARM-type_fold - no_errors PSME4 HGNC ENSG00000068878 149 0 0 57 5 8.06452 CCDC88A 0 genome.wustl.edu 37 2 55561621 55561622 + Frame_Shift_Ins INS - - T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 55561621 55561622 - T INS CCDC88A ENST00000436346 human ensembl 74_37 -1 known frame_shift_ins c.2336_2335 p.I779fs 1.000:1.000 superfamily_Prefoldin pfam_Hook-related_fam,superfamily_Prefoldin,superfamily_t-SNARE - no_errors CCDC88A HGNC ENSG00000115355 77 0 0 23 12 34.2857 CCDC88A 0 genome.wustl.edu 37 2 55561925 55561925 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 55561925 55561925 T - DEL CCDC88A ENST00000436346 human ensembl 74_37 -1 known frame_shift_del c.2032 p.T678fs 1.000 NULL pfam_Hook-related_fam,superfamily_Prefoldin,superfamily_t-SNARE - no_errors CCDC88A HGNC ENSG00000115355 35 0 0 18 9 33.3333 ENSG00000226605 0 genome.wustl.edu 37 2 63053199 63053199 + RNA DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 63053199 63053199 T - DEL ENSG00000226605 ENST00000452397 human ensembl 74_37 -1 known rna NULL NULL 0.047 - - - no_errors AC007098.1 Clone_based_vega_gene ENSG00000226605 44 0 0 19 8 29.6296 MEIS1 0 genome.wustl.edu 37 2 66798467 66798467 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 66798467 66798467 C - DEL MEIS1 ENST00000407092 human ensembl 74_37 +1 known frame_shift_del c.1204 p.H404fs 1.000 NULL pfam_Homeobox_dom,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors MEIS1 HGNC ENSG00000143995 19 0 0 20 4 16.6667 SNRNP27 0 genome.wustl.edu 37 2 70131463 70131463 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 70131463 70131463 T - DEL SNRNP27 ENST00000409116 human ensembl 74_37 +1 novel frame_shift_del c.426 p.S145fs 0.141 NULL pfam_DUF1777 - no_errors SNRNP27 HGNC ENSG00000124380 45 0 0 21 12 36.3636 ENSG00000228384 0 genome.wustl.edu 37 2 71221892 71221892 + RNA DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 71221892 71221892 C - DEL ENSG00000228384 ENST00000601923 human ensembl 74_37 +1 known rna NULL NULL 0.789 - - - no_errors AC007040.6 Clone_based_vega_gene ENSG00000228384 9 0 0 14 7 33.3333 MCEE 0 genome.wustl.edu 37 2 71337212 71337212 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 71337212 71337212 T - DEL MCEE ENST00000244217 human ensembl 74_37 -1 known frame_shift_del c.419 p.K140fs 1.000 pfam_Glyas_Fos-R_dOase_dom,tigrfam_MeMalonyl-CoA_epimerase pfam_Glyas_Fos-R_dOase_dom,tigrfam_MeMalonyl-CoA_epimerase - no_errors MCEE HGNC ENSG00000124370 54 0 0 30 7 18.9189 TPRKB 0 genome.wustl.edu 37 2 73957881 73957881 + RNA DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 73957881 73957881 A - DEL TPRKB ENST00000485758 human ensembl 74_37 -1 putative rna NULL NULL 0.004 - - - no_errors TPRKB HGNC ENSG00000144034 53 0 0 15 6 28.5714 DCTN1 0 genome.wustl.edu 37 2 74593377 74593377 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 74593377 74593377 G - DEL DCTN1 ENST00000361874 human ensembl 74_37 -1 known frame_shift_del c.2754 p.S919fs 0.997 superfamily_P-loop_NTPase pfam_Dynactin,pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_Polyketide_synth_docking,superfamily_P-loop_NTPase,pfscan_CAP-Gly_domain - no_errors DCTN1 HGNC ENSG00000204843 148 0 0 87 33 27.5 INO80B 0 genome.wustl.edu 37 2 74682585 74682586 + Frame_Shift_Ins INS - - A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 74682585 74682586 - A INS INO80B ENST00000452361 human ensembl 74_37 +1 known frame_shift_ins c.111_112 p.H39fs 1.000:1.000 NULL pfam_INO80B_C,pfam_Znf_HIT - no_errors INO80B HGNC ENSG00000115274 63 0 0 59 15 20.2703 DQX1 0 genome.wustl.edu 37 2 74751023 74751023 + RNA DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 74751023 74751023 T - DEL DQX1 ENST00000495597 human ensembl 74_37 -1 known rna NULL NULL 0.032 - - - no_errors DQX1 HGNC ENSG00000144045 16 0 0 9 6 40 HTRA2 0 genome.wustl.edu 37 2 74757472 74757473 + Frame_Shift_Ins INS - - G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 74757472 74757473 - G INS HTRA2 ENST00000258080 human ensembl 74_37 +1 known frame_shift_ins c.339_340 p.A115fs 0.441:0.979 NULL pfam_Peptidase_S1,pfam_PDZ,superfamily_Trypsin-like_Pept_dom,superfamily_PDZ,smart_PDZ,pfscan_PDZ,prints_Peptidase_S1C - no_errors HTRA2 HGNC ENSG00000115317 17 0 0 21 4 16 GCFC2 0 genome.wustl.edu 37 2 75897274 75897274 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 75897274 75897274 T - DEL GCFC2 ENST00000321027 human ensembl 74_37 -1 known frame_shift_del c.2093 p.K698fs 0.997 NULL pfam_GCFC_dom - no_errors GCFC2 HGNC ENSG00000005436 83 0 0 32 9 21.9512 GGCX 0 genome.wustl.edu 37 2 85786171 85786172 + Frame_Shift_Ins INS - - G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 85786171 85786172 - G INS GGCX ENST00000233838 human ensembl 74_37 -1 known frame_shift_ins c.242_241 p.Q81fs 1.000:1.000 pfam_VKG_COase,smart_HTTM pfam_VKG_COase,superfamily_RmlC_Cupin,smart_HTTM - no_errors GGCX HGNC ENSG00000115486 78 0 0 43 17 28.3333 KIDINS220 0 genome.wustl.edu 37 2 8919228 8919228 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 8919228 8919228 A - DEL KIDINS220 ENST00000256707 human ensembl 74_37 -1 known frame_shift_del c.2412 p.F804fs 1.000 pfam_KAP_NTPase pfam_KAP_NTPase,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KIDINS220 HGNC ENSG00000134313 135 0 0 76 37 32.7434 SEMA4C 0 genome.wustl.edu 37 2 97529759 97529759 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 97529759 97529759 G - DEL SEMA4C ENST00000305476 human ensembl 74_37 -1 known frame_shift_del c.1234 p.L412fs 1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA4C HGNC ENSG00000168758 56 0 0 37 21 36.2069 EIF5B 0 genome.wustl.edu 37 2 99977649 99977650 + Frame_Shift_Ins INS - - A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 2 99977649 99977650 - A INS EIF5B ENST00000289371 human ensembl 74_37 +1 known frame_shift_ins c.285_286 p.K98fs 0.928:0.998 NULL pfam_EF_GTP-bd_dom,pfam_TIF_IF2_dom3,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_B-barrel,superfamily_TIF_IF2_dom3,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom - no_errors EIF5B HGNC ENSG00000158417 79 0 0 44 5 10.2041 RRBP1 0 genome.wustl.edu 37 20 17640807 17640808 + Frame_Shift_Ins INS - - G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 20 17640807 17640808 - G INS RRBP1 ENST00000246043 human ensembl 74_37 -1 known frame_shift_ins c.346_345 p.I115fs 0.000:0.000 pfam_Rib_rcpt_KP pfam_Rib_rcpt_KP,superfamily_Ribosome_recyc_fac_dom - no_errors RRBP1 HGNC ENSG00000125844 33 0 0 35 11 23.913 PAX1 0 genome.wustl.edu 37 20 21690007 21690007 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 20 21690007 21690007 C - DEL PAX1 ENST00000398485 human ensembl 74_37 +1 known frame_shift_del c.1207 p.A406fs 1.000 NULL pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX1 HGNC ENSG00000125813 55 0 0 38 7 15.5556 HM13 0 genome.wustl.edu 37 20 30142485 30142488 + RNA DEL AAAA AAAA - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 AAAA AAAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 20 30142485 30142488 AAAA - DEL HM13 ENST00000474466 human ensembl 74_37 +1 known rna NULL NULL 0.172:0.159:0.155:0.142 - - - no_errors HM13 HGNC ENSG00000101294 31 0 0 21 11 34.375 FAM83C 0 genome.wustl.edu 37 20 33879731 33879731 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 20 33879731 33879731 G - DEL FAM83C ENST00000374408 human ensembl 74_37 -1 known frame_shift_del c.377 p.P126fs 1.000 pfam_DUF1669 pfam_DUF1669 - no_errors FAM83C HGNC ENSG00000125998 142 0 0 109 13 10.6557 GDF5 0 genome.wustl.edu 37 20 34025504 34025504 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 20 34025504 34025504 C - DEL GDF5 ENST00000374369 human ensembl 74_37 -1 known frame_shift_del c.205 p.A69fs 0.002 NULL pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C - no_errors GDF5 HGNC ENSG00000125965 41 0 0 19 8 29.6296 KIAA1755 0 genome.wustl.edu 37 20 36841830 36841830 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 20 36841830 36841830 C - DEL KIAA1755 ENST00000279024 human ensembl 74_37 -1 known frame_shift_del c.3217 p.V1073fs 0.000 NULL superfamily_CRAL-TRIO_dom - no_errors KIAA1755 HGNC ENSG00000149633 12 0 0 6 5 45.4545 FAM83D 0 genome.wustl.edu 37 20 37580943 37580943 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 20 37580943 37580943 C - DEL FAM83D ENST00000217429 human ensembl 74_37 +1 known frame_shift_del c.1628 p.H545fs 0.910 NULL pfam_DUF1669 - no_errors FAM83D HGNC ENSG00000101447 69 0 0 25 14 35.8974 PANK2 0 genome.wustl.edu 37 20 3893120 3893120 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 20 3893120 3893120 T - DEL PANK2 ENST00000316562 human ensembl 74_37 +1 known frame_shift_del c.1251 p.F419fs 0.827 pfam_Type_II_PanK,tigrfam_Type_II_PanK pfam_Type_II_PanK,tigrfam_Type_II_PanK - no_errors PANK2 HGNC ENSG00000125779 196 0 0 82 47 36.4341 WFDC10A 0 genome.wustl.edu 37 20 44258490 44258490 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 20 44258490 44258490 G - DEL WFDC10A ENST00000372643 human ensembl 74_37 +1 known frame_shift_del c.38 p.C13fs 0.194 NULL pfam_WAP-type_4-diS_core,superfamily_WAP-type_4-diS_core - no_errors WFDC10A HGNC ENSG00000180305 47 0 0 24 6 20 SNX21 0 genome.wustl.edu 37 20 44469004 44469004 + RNA DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 20 44469004 44469004 A - DEL SNX21 ENST00000465997 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SNX21 HGNC ENSG00000124104 38 0 0 26 4 13.3333 TP53RK 0 genome.wustl.edu 37 20 45315634 45315634 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 20 45315634 45315634 G - DEL TP53RK ENST00000372114 human ensembl 74_37 -1 known frame_shift_del c.520 p.L174fs 0.000 pfam_LipoPS_kinase,pfam_Prot_kinase_dom,pfam_RIO-like_kinase,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom,tigrfam_Bud32 pfam_LipoPS_kinase,pfam_Prot_kinase_dom,pfam_RIO-like_kinase,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom,tigrfam_Bud32 - no_errors TP53RK HGNC ENSG00000172315 174 0 0 61 34 35.7895 ZMYND8 0 genome.wustl.edu 37 20 45875071 45875072 + Frame_Shift_Ins INS - - T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 20 45875071 45875072 - T INS ZMYND8 ENST00000536340 human ensembl 74_37 -1 known frame_shift_ins c.1986_1985 p.P663fs 1.000:1.000 NULL pfam_DUF3544,pfam_Bromodomain,pfam_PWWP_dom,pfam_Znf_PHD-finger,pfam_Znf_MYND,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP_dom,pfscan_PWWP_dom,pfscan_Znf_MYND,pfscan_Znf_PHD-finger,pfscan_Bromodomain - no_errors ZMYND8 HGNC ENSG00000101040 218 1 0.456621 109 51 31.875 DDX27 0 genome.wustl.edu 37 20 47858504 47858504 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 20 47858504 47858504 A - DEL DDX27 ENST00000371764 human ensembl 74_37 +1 known frame_shift_del c.2065 p.K691fs 1.000 NULL 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 DDX27 HGNC ENSG00000124228 127 1 0.78125 51 30 37.037 SALL4 0 genome.wustl.edu 37 20 50400983 50400983 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 20 50400983 50400983 C - DEL SALL4 ENST00000217086 human ensembl 74_37 -1 known frame_shift_del c.2983 p.V995fs 0.001 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL4 HGNC ENSG00000101115 117 0 0 40 30 42.8571 SYCP2 0 genome.wustl.edu 37 20 58452519 58452519 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 20 58452519 58452519 T - DEL SYCP2 ENST00000357552 human ensembl 74_37 -1 known frame_shift_del c.3071 p.N1024fs 1.000 NULL NULL - no_errors SYCP2 HGNC ENSG00000196074 52 0 0 25 12 32.4324 LAMA5 0 genome.wustl.edu 37 20 60885779 60885780 + Frame_Shift_Ins INS - - G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 20 60885779 60885780 - G INS LAMA5 ENST00000252999 human ensembl 74_37 -1 known frame_shift_ins c.10388_10387 p.Q3463fs 0.000:0.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors LAMA5 HGNC ENSG00000130702 19 0 0 17 7 29.1667 DIDO1 0 genome.wustl.edu 37 20 61537402 61537402 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 20 61537402 61537402 T - DEL DIDO1 ENST00000266070 human ensembl 74_37 -1 known frame_shift_del c.1425 p.E476fs 0.986 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger - no_errors DIDO1 HGNC ENSG00000101191 146 1 0.680272 97 19 16.3793 COL20A1 0 genome.wustl.edu 37 20 61943276 61943277 + Frame_Shift_Ins INS - - C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 20 61943276 61943277 - C INS COL20A1 ENST00000326996 human ensembl 74_37 +1 known frame_shift_ins c.1672_1673 p.R561fs 0.000:0.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL20A1 HGNC ENSG00000101203 10 0 0 7 5 41.6667 RBM11 0 genome.wustl.edu 37 21 15599662 15599663 + RNA INS - - A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 21 15599662 15599663 - A INS RBM11 ENST00000468643 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors RBM11 HGNC ENSG00000185272 27 0 0 25 9 26.4706 BTG3 0 genome.wustl.edu 37 21 18981391 18981391 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 21 18981391 18981391 T - DEL BTG3 ENST00000339775 human ensembl 74_37 -1 known frame_shift_del c.72 p.E25fs 1.000 pfam_Anti_prolifrtn,smart_Anti_prolifrtn,prints_Anti_prolifrtn pfam_Anti_prolifrtn,smart_Anti_prolifrtn,prints_Anti_prolifrtn - no_errors BTG3 HGNC ENSG00000154640 85 0 0 36 28 43.75 APP 0 genome.wustl.edu 37 21 27394181 27394182 + In_Frame_Ins INS - - GTG TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 21 27394181 27394182 - GTG INS APP ENST00000346798 human ensembl 74_37 -1 known in_frame_ins c.840_839 p.281in_frame_insT 0.056:0.932 NULL pfam_Amyloid_glyco_heparin-bd,pfam_APP_amyloid_C,pfam_Amyloid_glyco_Abeta,pfam_Prot_inh_Kunz-m,superfamily_Amyloid_glyco_E2_domain,superfamily_Amyloid_glyco_heparin-bd,superfamily_Amyloid_glyco_Cu-bd,superfamily_Prot_inh_Kunz-m,smart_Amyloid_glyco_extra,smart_Prot_inh_Kunz-m,prints_Amyloid_glyco,prints_Amyloid_glyco_Abeta,prints_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m - no_errors APP HGNC ENSG00000142192 50 0 0 36 9 20 RWDD2B 0 genome.wustl.edu 37 21 30378685 30378685 + RNA DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 21 30378685 30378685 A - DEL RWDD2B ENST00000286777 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RWDD2B HGNC ENSG00000156253 25 0 0 6 8 57.1429 DOPEY2 0 genome.wustl.edu 37 21 37586451 37586452 + Frame_Shift_Ins INS - - T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 21 37586451 37586452 - T INS DOPEY2 ENST00000399151 human ensembl 74_37 +1 known frame_shift_ins c.977_978 p.E329fs 1.000:1.000 NULL pfam_Dopey_N - no_errors DOPEY2 HGNC ENSG00000142197 99 0 0 61 25 29.0698 TTC3 0 genome.wustl.edu 37 21 38524243 38524243 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 21 38524243 38524243 A - DEL TTC3 ENST00000354749 human ensembl 74_37 +1 known frame_shift_del c.2327 p.E779fs 1.000 NULL pfam_Znf_C3HC4_RING-type,superfamily_DEATH-like_dom,smart_TPR_repeat,smart_Znf_RING,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING - no_errors TTC3 HGNC ENSG00000182670 88 0 0 58 14 19.4444 DYRK1A 0 genome.wustl.edu 37 21 38853058 38853059 + Frame_Shift_Ins INS - - A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 21 38853058 38853059 - A INS DYRK1A ENST00000398960 human ensembl 74_37 +1 known frame_shift_ins c.446_447 p.N151fs 1.000:0.984 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors DYRK1A HGNC ENSG00000157540 85 0 0 55 24 30.3797 DSCAM 0 genome.wustl.edu 37 21 41514615 41514615 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 21 41514615 41514615 G - DEL DSCAM ENST00000400454 human ensembl 74_37 -1 known frame_shift_del c.3276 p.E1093fs 0.013 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DSCAM HGNC ENSG00000171587 203 0 0 117 31 20.9459 AIRE 0 genome.wustl.edu 37 21 45710773 45710773 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 21 45710773 45710773 G - DEL AIRE ENST00000355347 human ensembl 74_37 +1 known frame_shift_del c.84 p.G30fs 0.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors AIRE HGNC ENSG00000160224 125 1 0.793651 98 56 36.3636 PFKL 0 genome.wustl.edu 37 21 45744439 45744439 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 21 45744439 45744439 G - DEL PFKL ENST00000403390 human ensembl 74_37 +1 known frame_shift_del c.1857 p.G621fs 1.000 pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,tigrfam_6-phosphofructokinase_euk pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,prints_Phosphofructokinase,tigrfam_6-phosphofructokinase_euk - no_errors PFKL HGNC ENSG00000141959 114 0 0 72 53 42.4 UBE2G2 0 genome.wustl.edu 37 21 46191156 46191158 + RNA DEL AAA AAA - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 21 46191156 46191158 AAA - DEL UBE2G2 ENST00000477954 human ensembl 74_37 -1 known rna NULL NULL 0.001:0.000:0.000 - - - no_errors UBE2G2 HGNC ENSG00000184787 23 0 0 5 4 44.4444 PCNT 0 genome.wustl.edu 37 21 47836237 47836237 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 21 47836237 47836237 G - DEL PCNT ENST00000359568 human ensembl 74_37 +1 known frame_shift_del c.6405 p.G2137fs 0.000 NULL pfam_PACT_domain - no_errors PCNT HGNC ENSG00000160299 93 0 0 76 6 7.31707 CECR2 0 genome.wustl.edu 37 22 18028863 18028863 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 22 18028863 18028863 T - DEL CECR2 ENST00000400573 human ensembl 74_37 +1 novel frame_shift_del c.3820 p.L1275fs 0.998 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors CECR2 HGNC ENSG00000099954 123 0 0 91 43 32.0896 SMTN 0 genome.wustl.edu 37 22 31486953 31486953 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 22 31486953 31486953 C - DEL SMTN ENST00000347557 human ensembl 74_37 +1 known frame_shift_del c.944 p.A318fs 0.784 NULL pfam_Smoothelin,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors SMTN HGNC ENSG00000183963 124 0 0 67 31 31.6327 RFPL2 0 genome.wustl.edu 37 22 32589205 32589205 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 22 32589205 32589205 A - DEL RFPL2 ENST00000248980 human ensembl 74_37 -1 known frame_shift_del c.57 p.F19fs 0.003 NULL pfam_RDM_domain_RFPL,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin - no_errors RFPL2 HGNC ENSG00000128253 129 0 0 91 9 9 TIMP3 0 genome.wustl.edu 37 22 33255321 33255321 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 22 33255321 33255321 G - DEL TIMP3 ENST00000266085 human ensembl 74_37 +1 known frame_shift_del c.593 p.A199fs 1.000 superfamily_TIMP-like_OB-fold pfam_Prot_inh_TIMP,superfamily_TIMP-like_OB-fold,smart_Prot_inh_TIMP,pfscan_Netrin_domain - no_errors TIMP3 HGNC ENSG00000100234 47 0 0 36 12 25 TIMP3 0 genome.wustl.edu 37 22 33255323 33255324 + Frame_Shift_Ins INS - - C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 22 33255323 33255324 - C INS TIMP3 ENST00000266085 human ensembl 74_37 +1 known frame_shift_ins c.595_596 p.D202fs 1.000:0.990 NULL pfam_Prot_inh_TIMP,superfamily_TIMP-like_OB-fold,smart_Prot_inh_TIMP,pfscan_Netrin_domain - no_errors TIMP3 HGNC ENSG00000100234 46 0 0 29 16 35.5556 TNRC6B 0 genome.wustl.edu 37 22 40708591 40708591 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 22 40708591 40708591 G - DEL TNRC6B ENST00000454349 human ensembl 74_37 +1 known frame_shift_del c.4518 p.G1508fs 1.000 NULL pfam_Argonaute_hook_dom,superfamily_UBA-like - no_errors TNRC6B HGNC ENSG00000100354 192 1 0.518135 108 57 34.5455 ACO2 0 genome.wustl.edu 37 22 41920925 41920927 + In_Frame_Del DEL AAG AAG - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 AAG AAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 22 41920925 41920927 AAG - DEL ACO2 ENST00000216254 human ensembl 74_37 +1 known in_frame_del c.1558_1560 p.K521in_frame_del 1.000:1.000:1.000 superfamily_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase_mito-like pfam_Acoase/IPM_deHydtase_lsu_aba,pfam_AconitaseA/IPMdHydase_ssu_swvl,superfamily_Acoase/IPM_deHydtase_lsu_aba,superfamily_Aconitase/3IPM_dehydase_swvl,prints_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase_mito-like - no_errors ACO2 HGNC ENSG00000100412 113 0 0 87 38 30.4 SREBF2 0 genome.wustl.edu 37 22 42293125 42293125 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 22 42293125 42293125 C - DEL SREBF2 ENST00000361204 human ensembl 74_37 +1 known frame_shift_del c.2565 p.P857fs 0.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors SREBF2 HGNC ENSG00000198911 36 0 0 25 3 10.7143 FAM109B 0 genome.wustl.edu 37 22 42473376 42473377 + Frame_Shift_Ins INS - - G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 22 42473376 42473377 - G INS FAM109B ENST00000321753 human ensembl 74_37 +1 known frame_shift_ins c.79_80 p.P31fs 0.979:1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors FAM109B HGNC ENSG00000177096 149 0 0 119 9 7.03125 SAMM50 0 genome.wustl.edu 37 22 44392209 44392209 + RNA DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 22 44392209 44392209 T - DEL SAMM50 ENST00000493621 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SAMM50 HGNC ENSG00000100347 695 3 0.429799 419 205 32.8526 CELSR1 0 genome.wustl.edu 37 22 46931883 46931884 + Frame_Shift_Ins INS - - C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 22 46931883 46931884 - C INS CELSR1 ENST00000262738 human ensembl 74_37 -1 known frame_shift_ins c.1185_1184 p.A396fs 0.515:0.994 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR1 HGNC ENSG00000075275 49 0 0 29 11 27.5 ALG12 0 genome.wustl.edu 37 22 50302891 50302891 + Splice_Site DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 22 50302891 50302891 C - DEL ALG12 ENST00000330817 human ensembl 74_37 -1 known splice_site_del c.768+1 e5+1 0.997 - - - no_errors ALG12 HGNC ENSG00000182858 118 0 0 81 18 18.1818 SBF1 0 genome.wustl.edu 37 22 50898756 50898756 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 22 50898756 50898756 G - DEL SBF1 ENST00000380817 human ensembl 74_37 -1 known frame_shift_del c.3228 p.S1077fs 0.039 NULL 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 101 0 0 62 39 38.6139 ABI3BP 0 genome.wustl.edu 37 3 100497280 100497280 + RNA DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 100497280 100497280 A - DEL ABI3BP ENST00000469764 human ensembl 74_37 -1 known rna NULL NULL 0.026 - - - no_errors ABI3BP HGNC ENSG00000154175 23 0 0 16 5 23.8095 MYH15 0 genome.wustl.edu 37 3 108229398 108229398 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 108229398 108229398 A - DEL MYH15 ENST00000273353 human ensembl 74_37 -1 known frame_shift_del c.40 p.W14fs 0.000 NULL pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_Lambda_DNA-bd_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom - no_errors MYH15 HGNC ENSG00000144821 107 0 0 53 13 19.697 DPPA4 0 genome.wustl.edu 37 3 109049606 109049606 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 109049606 109049606 T - DEL DPPA4 ENST00000335658 human ensembl 74_37 -1 known frame_shift_del c.444 p.K148fs 0.000 NULL NULL - no_errors DPPA4 HGNC ENSG00000121570 90 0 0 54 17 23.9437 KIAA2018 0 genome.wustl.edu 37 3 113376978 113376979 + Frame_Shift_Del DEL CT CT - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 113376978 113376979 CT - DEL KIAA2018 ENST00000316407 human ensembl 74_37 -1 known frame_shift_del c.3551_3550 p.S1184fs 0.000:0.895 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors KIAA2018 HGNC ENSG00000176542 107 0 0 34 18 34.6154 ZDHHC23 0 genome.wustl.edu 37 3 113672641 113672641 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 113672641 113672641 A - DEL ZDHHC23 ENST00000478793 human ensembl 74_37 +1 known frame_shift_del c.256 p.V88fs 0.954 NULL pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC23 HGNC ENSG00000184307 182 1 0.546448 88 27 23.4783 ZBTB20 0 genome.wustl.edu 37 3 114058003 114058003 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 114058003 114058003 G - DEL ZBTB20 ENST00000474710 human ensembl 74_37 -1 known frame_shift_del c.2075 p.P692fs 0.678 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 86 0 0 52 38 42.2222 PARP14 0 genome.wustl.edu 37 3 122432364 122432366 + In_Frame_Del DEL AAG AAG - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 AAG AAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 122432364 122432366 AAG - DEL PARP14 ENST00000474629 human ensembl 74_37 +1 known in_frame_del c.3713_3715 p.E1240in_frame_del 1.000:0.997:1.000 smart_Macro_dom,pfscan_Macro_dom pfam_Macro_dom,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_WWE-dom,smart_Macro_dom,pfscan_Macro_dom,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP14 HGNC ENSG00000173193 72 0 0 39 6 13.3333 PDIA5 0 genome.wustl.edu 37 3 122880697 122880698 + RNA DEL TC TC - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 TC TC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 122880697 122880698 TC - DEL PDIA5 ENST00000467157 human ensembl 74_37 +1 known rna NULL NULL 0.001:0.000 - - - no_errors PDIA5 HGNC ENSG00000065485 33 0 0 20 15 42.8571 ADCY5 0 genome.wustl.edu 37 3 123167215 123167215 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 123167215 123167215 C - DEL ADCY5 ENST00000462833 human ensembl 74_37 -1 known frame_shift_del c.178 p.A60fs 0.997 NULL pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY5 HGNC ENSG00000173175 8 0 0 5 5 50 MYLK 0 genome.wustl.edu 37 3 123385183 123385184 + Frame_Shift_Ins INS - - G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 123385183 123385184 - G INS MYLK ENST00000360304 human ensembl 74_37 -1 known frame_shift_ins c.3714_3713 p.Q1239fs 0.988:1.000 pfam_Ig_I-set,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,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 MYLK HGNC ENSG00000065534 69 0 0 48 8 14.2857 FAM86JP 0 genome.wustl.edu 37 3 125648415 125648415 + RNA DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 125648415 125648415 A - DEL FAM86JP ENST00000467239 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors FAM86JP HGNC ENSG00000171084 50 0 0 31 11 26.1905 ENSG00000273455 0 genome.wustl.edu 37 3 135806703 135806703 + RNA DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 135806703 135806703 T - DEL ENSG00000273455 ENST00000608883 human ensembl 74_37 -1 known rna NULL NULL 0.004 - - - no_errors RP11-305O4.3 Clone_based_vega_gene ENSG00000273455 44 0 0 23 20 46.5116 CNTN6 0 genome.wustl.edu 37 3 1371501 1371501 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 1371501 1371501 A - DEL CNTN6 ENST00000350110 human ensembl 74_37 +1 known frame_shift_del c.1246 p.K418fs 0.992 pfam_Ig_I-set,smart_Ig_sub,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 88 0 0 34 18 34.6154 COPB2 0 genome.wustl.edu 37 3 139088326 139088326 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 139088326 139088326 T - DEL COPB2 ENST00000333188 human ensembl 74_37 -1 known frame_shift_del c.1266 p.K422fs 0.995 pirsf_COPB2,pfam_Coatomer_WD-assoc_reg,superfamily_WD40_repeat_dom pirsf_COPB2,pfam_Coatomer_WD-assoc_reg,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors COPB2 HGNC ENSG00000184432 58 0 0 23 11 32.3529 EIF2A 0 genome.wustl.edu 37 3 150289746 150289746 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 150289746 150289746 A - DEL EIF2A ENST00000460851 human ensembl 74_37 +1 known frame_shift_del c.813 p.N273fs 0.958 pfam_TIF_beta_prop-like,pirsf_TIF2A pfam_TIF_beta_prop-like,pirsf_TIF2A - no_errors EIF2A HGNC ENSG00000144895 45 0 0 27 11 28.9474 ANKRD28 0 genome.wustl.edu 37 3 15756165 15756166 + Splice_Site INS - - G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 15756165 15756166 - G INS ANKRD28 ENST00000383777 human ensembl 74_37 -1 known splice_site_ins c.1006-3_1006-2 e9-2 1.000:0.998 - - - no_errors ANKRD28 HGNC ENSG00000206560 18 0 0 16 6 27.2727 SHOX2 0 genome.wustl.edu 37 3 157823865 157823865 + RNA DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 157823865 157823865 T - DEL SHOX2 ENST00000554685 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors SHOX2 HGNC ENSG00000168779 53 0 0 24 13 35.1351 ARL14 0 genome.wustl.edu 37 3 160395474 160395474 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 160395474 160395474 A - DEL ARL14 ENST00000320767 human ensembl 74_37 +1 known frame_shift_del c.340 p.N115fs 0.000 pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_MIRO-like,pfam_Gprotein_alpha_su,pfam_Gtr1_RagA,pfam_SRP_receptor_beta_su,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,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_Gprotein_alpha_su,pfam_Gtr1_RagA,pfam_SRP_receptor_beta_su,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,smart_Small_GTPase_Rab_type,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors ARL14 HGNC ENSG00000179674 106 0 0 50 7 12.2807 OXNAD1 0 genome.wustl.edu 37 3 16343348 16343348 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 16343348 16343348 A - DEL OXNAD1 ENST00000544043 human ensembl 74_37 +1 known frame_shift_del c.702 p.N236fs 0.128 pfam_OxRdtase_FAD/NAD-bd,pfam_Fe_red_NAD-bd_6 pfam_OxRdtase_FAD/NAD-bd,pfam_Fe_red_NAD-bd_6,superfamily_Riboflavin_synthase-like_b-brl,prints_Phe_hydroxylase,prints_NADH-Cyt_B5_reductase - no_errors OXNAD1 HGNC ENSG00000154814 73 0 0 39 15 27.7778 B3GNT5 0 genome.wustl.edu 37 3 182987617 182987617 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 182987617 182987617 A - DEL B3GNT5 ENST00000326505 human ensembl 74_37 +1 known frame_shift_del c.31 p.K12fs 0.985 NULL pfam_Glyco_trans_31,superfamily_Luciferase-like_dom - no_errors B3GNT5 HGNC ENSG00000176597 140 0 0 99 11 10 CHRD 0 genome.wustl.edu 37 3 184100472 184100472 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 184100472 184100472 G - DEL CHRD ENST00000204604 human ensembl 74_37 +1 known frame_shift_del c.892 p.G299fs 0.999 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 152 0 0 94 20 17.5439 TMEM41A 0 genome.wustl.edu 37 3 185212517 185212518 + Frame_Shift_Ins INS - - A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 185212517 185212518 - A INS TMEM41A ENST00000421852 human ensembl 74_37 -1 known frame_shift_ins c.468_467 p.L158fs 0.999:1.000 pfam_SNARE_assoc pfam_SNARE_assoc - no_errors TMEM41A HGNC ENSG00000163900 165 1 0.60241 125 31 19.8718 DGKG 0 genome.wustl.edu 37 3 185975717 185975717 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 185975717 185975717 A - DEL DGKG ENST00000265022 human ensembl 74_37 -1 known frame_shift_del c.1436 p.F479fs 1.000 pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_EF_hand_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_EF_hand_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors DGKG HGNC ENSG00000058866 75 0 0 53 28 34.5679 LSG1 0 genome.wustl.edu 37 3 194362829 194362829 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 194362829 194362829 T - DEL LSG1 ENST00000265245 human ensembl 74_37 -1 known frame_shift_del c.1945 p.S649fs 1.000 NULL pfam_GTP_binding_domain,superfamily_P-loop_NTPase,prints_GTP_binding_domain - no_errors LSG1 HGNC ENSG00000041802 173 0 0 81 33 28.9474 XXYLT1 0 genome.wustl.edu 37 3 194790780 194790780 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 194790780 194790780 G - DEL XXYLT1 ENST00000310380 human ensembl 74_37 -1 known frame_shift_del c.846 p.E283fs 0.298 pfam_Glyco_trans_8 pfam_Glyco_trans_8 - no_errors XXYLT1 HGNC ENSG00000173950 112 0 0 42 25 37.3134 SLC51A 0 genome.wustl.edu 37 3 195955038 195955038 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 195955038 195955038 G - DEL SLC51A ENST00000296327 human ensembl 74_37 +1 known frame_shift_del c.415 p.K141fs 1.000 pfam_Ost-alpha pfam_Ost-alpha - no_errors SLC51A HGNC ENSG00000163959 295 0 0 221 12 5.15021 ENSG00000232783 0 genome.wustl.edu 37 3 197838274 197838276 + RNA DEL AAA AAA - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 197838274 197838276 AAA - DEL ENSG00000232783 ENST00000411596 human ensembl 74_37 +1 known rna NULL NULL 0.001:0.001:0.001 - - - no_errors AC073135.3 Clone_based_vega_gene ENSG00000232783 31 0 0 13 7 35 HMGB1P5 0 genome.wustl.edu 37 3 22424027 22424027 + RNA DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 22424027 22424027 A - DEL HMGB1P5 ENST00000451497 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors HMGB1P5 HGNC ENSG00000132967 36 0 0 32 8 20 STT3B 0 genome.wustl.edu 37 3 31574592 31574593 + Frame_Shift_Ins INS - - G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 31574592 31574593 - G INS STT3B ENST00000295770 human ensembl 74_37 +1 known frame_shift_ins c.102_103 p.P35fs 0.994:1.000 NULL pfam_Oligo_trans_STT3 - no_errors STT3B HGNC ENSG00000163527 13 0 0 8 4 33.3333 HSPD1P6 0 genome.wustl.edu 37 3 36810381 36810381 + RNA DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 36810381 36810381 T - DEL HSPD1P6 ENST00000424886 human ensembl 74_37 -1 known rna NULL NULL 0.040 - - - no_errors HSPD1P6 HGNC ENSG00000230067 10 0 0 5 4 44.4444 MYD88 0 genome.wustl.edu 37 3 38180225 38180226 + Frame_Shift_Ins INS - - C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 38180225 38180226 - C INS MYD88 ENST00000417037 human ensembl 74_37 +1 known frame_shift_ins c.73_74 p.V27fs 0.000:0.006 superfamily_DEATH-like_dom,pirsf_Myelin_different_resp_MyD88 pfam_TIR_dom,pfam_Death_domain,superfamily_DEATH-like_dom,superfamily_TIR_dom,smart_Death_domain,smart_TIR_dom,pirsf_Myelin_different_resp_MyD88,pfscan_Death_domain,pfscan_TIR_dom - no_errors MYD88 HGNC ENSG00000172936 49 0 0 46 16 25.8065 SCN11A 0 genome.wustl.edu 37 3 38949441 38949441 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 38949441 38949441 T - DEL SCN11A ENST00000302328 human ensembl 74_37 -1 known frame_shift_del c.1472 p.K491fs 0.352 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN11A HGNC ENSG00000168356 98 0 0 23 15 39.4737 NKTR 0 genome.wustl.edu 37 3 42679036 42679036 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 42679036 42679036 C - DEL NKTR ENST00000232978 human ensembl 74_37 +1 known frame_shift_del c.1840 p.P616fs 1.000 NULL pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors NKTR HGNC ENSG00000114857 236 0 0 144 47 24.6073 NKTR 0 genome.wustl.edu 37 3 42679764 42679764 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 42679764 42679764 A - DEL NKTR ENST00000232978 human ensembl 74_37 +1 known frame_shift_del c.2568 p.R859fs 0.071 NULL pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors NKTR HGNC ENSG00000114857 86 0 0 52 24 31.5789 CCR5 0 genome.wustl.edu 37 3 46414455 46414455 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 46414455 46414455 A - DEL CCR5 ENST00000292303 human ensembl 74_37 +1 known frame_shift_del c.62 p.I23fs 0.355 prints_Chemokine_rcpt,prints_Chemokine_CCR5 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_rcpt,prints_GPCR_Rhodpsn,prints_Chemokine_CCR5,prints_Chemokine_CCR1,prints_ATII_rcpt - no_errors CCR5 HGNC ENSG00000160791 221 0 0 101 45 30.8219 COL7A1 0 genome.wustl.edu 37 3 48612871 48612871 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 48612871 48612871 G - DEL COL7A1 ENST00000328333 human ensembl 74_37 -1 known frame_shift_del c.6081 p.P2029fs 0.981 pfam_Collagen pfam_Collagen,pfam_Fibronectin_type3,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL7A1 HGNC ENSG00000114270 36 0 0 25 6 19.3548 SLC26A6 0 genome.wustl.edu 37 3 48666129 48666129 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 48666129 48666129 C - DEL SLC26A6 ENST00000395550 human ensembl 74_37 -1 known frame_shift_del c.1618 p.V540fs 0.967 pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A6 HGNC ENSG00000225697 56 0 0 35 19 35.1852 USP19 0 genome.wustl.edu 37 3 49155555 49155556 + Splice_Site INS - - A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 49155555 49155556 - A INS USP19 ENST00000398888 human ensembl 74_37 -1 known splice_site_ins c.125-3_125-2 e2-2 0.785:0.775 - - - no_errors USP19 HGNC ENSG00000172046 11 0 0 12 4 25 AMT 0 genome.wustl.edu 37 3 49457336 49457336 + RNA DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 49457336 49457336 A - DEL AMT ENST00000480957 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors AMT HGNC ENSG00000145020 43 0 0 20 9 31.0345 DAG1 0 genome.wustl.edu 37 3 49547840 49547840 + RNA DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 49547840 49547840 T - DEL DAG1 ENST00000479935 human ensembl 74_37 +1 known rna NULL NULL 0.793 - - - no_errors DAG1 HGNC ENSG00000173402 23 0 0 17 6 26.087 SLC38A3 0 genome.wustl.edu 37 3 50251692 50251692 + RNA DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 50251692 50251692 G - DEL SLC38A3 ENST00000414604 human ensembl 74_37 +1 known rna NULL NULL 0.996 - - - no_errors SLC38A3 HGNC ENSG00000188338 56 0 0 48 5 9.43396 DOCK3 0 genome.wustl.edu 37 3 51417604 51417605 + Frame_Shift_Del DEL CC CC - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 CC CC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 51417604 51417605 CC - DEL DOCK3 ENST00000266037 human ensembl 74_37 +1 known frame_shift_del c.5549_5550 p.P1852fs 0.115:0.081 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK3 HGNC ENSG00000088538 52 0 0 40 21 34.4262 NEK4 0 genome.wustl.edu 37 3 52794938 52794938 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 52794938 52794938 T - DEL NEK4 ENST00000233027 human ensembl 74_37 -1 known frame_shift_del c.836 p.N279fs 0.409 superfamily_Kinase-like_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,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK4 HGNC ENSG00000114904 115 0 0 47 37 44.0476 APPL1 0 genome.wustl.edu 37 3 57271572 57271572 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 57271572 57271572 A - DEL APPL1 ENST00000288266 human ensembl 74_37 +1 known frame_shift_del c.206 p.K70fs 1.000 NULL pfam_PTB/PI_dom,smart_Pleckstrin_homology,smart_PTB/PI_dom,pfscan_Pleckstrin_homology,pfscan_PTB/PI_dom - no_errors APPL1 HGNC ENSG00000157500 26 0 0 9 4 30.7692 FLNB 0 genome.wustl.edu 37 3 58089788 58089788 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 58089788 58089788 G - DEL FLNB ENST00000295956 human ensembl 74_37 +1 known frame_shift_del c.1586 p.G531fs 1.000 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNB HGNC ENSG00000136068 80 0 0 61 23 27.381 ATXN7 0 genome.wustl.edu 37 3 63981832 63981832 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 63981832 63981832 C - DEL ATXN7 ENST00000398590 human ensembl 74_37 +1 known frame_shift_del c.2334 p.T781fs 0.705 NULL pfam_SCA7_dom - no_errors ATXN7 HGNC ENSG00000163635 114 0 0 43 26 37.6812 SSUH2 0 genome.wustl.edu 37 3 8667234 8667235 + Frame_Shift_Ins INS - - T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 8667234 8667235 - T INS SSUH2 ENST00000544814 human ensembl 74_37 -1 known frame_shift_ins c.867_866 p.N289fs 0.032:0.046 NULL superfamily_HSP_DnaJ_Cys-rich_dom - no_errors SSUH2 HGNC ENSG00000125046 64 0 0 30 12 28.5714 HTR1F 0 genome.wustl.edu 37 3 88040889 88040889 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 88040889 88040889 T - DEL HTR1F ENST00000319595 human ensembl 74_37 +1 known frame_shift_del c.990 p.L332fs 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_5HT1F_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors HTR1F HGNC ENSG00000179097 60 0 0 16 18 52.9412 NSUN3 0 genome.wustl.edu 37 3 93783344 93783345 + Frame_Shift_Ins INS - - A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 93783344 93783345 - A INS NSUN3 ENST00000314622 human ensembl 74_37 +1 known frame_shift_ins c.76_77 p.Q28fs 1.000:0.999 NULL pfam_Fmu/NOL1/Nop2p,prints_RCMT - no_errors NSUN3 HGNC ENSG00000178694 48 0 0 32 10 23.8095 COL8A1 0 genome.wustl.edu 37 3 99514822 99514822 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 99514822 99514822 A - DEL COL8A1 ENST00000261037 human ensembl 74_37 +1 known frame_shift_del c.2077 p.K694fs 1.000 pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q pfam_Collagen,pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors COL8A1 HGNC ENSG00000144810 89 0 0 62 15 19.4805 IL17RC 0 genome.wustl.edu 37 3 9958948 9958948 + RNA DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 3 9958948 9958948 G - DEL IL17RC ENST00000498214 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors IL17RC HGNC ENSG00000163702 18 0 0 9 6 40 CFI 0 genome.wustl.edu 37 4 110682806 110682807 + Frame_Shift_Del DEL AG AG - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 110682806 110682807 AG - DEL CFI ENST00000394634 human ensembl 74_37 -1 known frame_shift_del c.525_524 p.S175fs 0.000:0.000 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR pfam_Peptidase_S1,pfam_LDrepeatLR_classA_rpt,pfam_SRCR,superfamily_Trypsin-like_Pept_dom,superfamily_Srcr_rcpt-rel,superfamily_LDrepeatLR_classA_rpt,smart_FacI_MAC,smart_Srcr_rcpt-rel,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1,pfscan_LDrepeatLR_classA_rpt,pfscan_SRCR,pfscan_Peptidase_S1,prints_Peptidase_S1A,prints_LDrepeatLR_classA_rpt - no_errors CFI HGNC ENSG00000205403 118 0 0 62 27 30.3371 LARP7 0 genome.wustl.edu 37 4 113570754 113570754 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 113570754 113570754 A - DEL LARP7 ENST00000324052 human ensembl 74_37 +1 known frame_shift_del c.1206 p.T405fs 1.000 NULL pfam_RRM_3,pfam_Lupus_La_RNA-bd,pfam_RRM_dom,smart_Lupus_La_RNA-bd,smart_RRM_dom,pfscan_Lupus_La_RNA-bd,pfscan_RRM_dom,prints_Lupus_La - no_errors LARP7 HGNC ENSG00000174720 26 0 0 9 7 43.75 SCLT1 0 genome.wustl.edu 37 4 129869675 129869675 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 129869675 129869675 T - DEL SCLT1 ENST00000281142 human ensembl 74_37 -1 known frame_shift_del c.1269 p.A424fs 1.000 NULL NULL - no_errors SCLT1 HGNC ENSG00000151466 54 0 0 25 12 32.4324 ZNF330 0 genome.wustl.edu 37 4 142143532 142143532 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 142143532 142143532 A - DEL ZNF330 ENST00000262990 human ensembl 74_37 +1 known frame_shift_del c.7 p.K5fs 1.000 pfam_NOA36 pfam_NOA36 - no_errors ZNF330 HGNC ENSG00000109445 36 0 0 16 9 36 HHIP 0 genome.wustl.edu 37 4 145567955 145567956 + Frame_Shift_Ins INS - - C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 145567955 145567956 - C INS HHIP ENST00000296575 human ensembl 74_37 +1 known frame_shift_ins c.128_129 p.K46fs 1.000:1.000 pfam_Folate_rcpt-like pfam_Folate_rcpt-like,superfamily_Quinoprot_gluc/sorb_DH,smart_EG-like_dom,pfscan_EG-like_dom - no_errors HHIP HGNC ENSG00000164161 98 0 0 55 22 28.5714 SORBS2 0 genome.wustl.edu 37 4 186510856 186510856 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 186510856 186510856 T - DEL SORBS2 ENST00000284776 human ensembl 74_37 -1 known frame_shift_del c.3218 p.K1073fs 1.000 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_p67phox pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox - no_errors SORBS2 HGNC ENSG00000154556 138 0 0 80 48 37.5 GPR125 0 genome.wustl.edu 37 4 22415458 22415458 + RNA DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 22415458 22415458 A - DEL GPR125 ENST00000506155 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors GPR125 HGNC ENSG00000152990 20 0 0 19 6 24 RBPJ 0 genome.wustl.edu 37 4 26321499 26321499 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 26321499 26321499 G - DEL RBPJ ENST00000345843 human ensembl 74_37 +1 known frame_shift_del c.3 p.G3fs 0.000 NULL pfam_Beta-trefoil_DNA-bd_dom,pfam_LAG1_DNA-bd,pfam_IPT,superfamily_Beta-trefoil_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set - no_errors RBPJ HGNC ENSG00000168214 48 0 0 22 11 33.3333 GRK4 0 genome.wustl.edu 37 4 2986250 2986251 + Frame_Shift_Ins INS - - A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 2986250 2986251 - A INS GRK4 ENST00000398052 human ensembl 74_37 +1 known frame_shift_ins c.63_64 p.S23fs 0.978:0.983 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RGS_dom,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Regulat_G_prot_signal_superfam,pfscan_Prot_kinase_dom,prints_GPCR_kinase - no_errors GRK4 HGNC ENSG00000125388 61 0 0 51 9 15 RGS12 0 genome.wustl.edu 37 4 3432431 3432431 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 3432431 3432431 C - DEL RGS12 ENST00000344733 human ensembl 74_37 +1 known frame_shift_del c.3863 p.1292fs 0.000 NULL pfam_Raf-like_ras-bd,pfam_RGS_dom,pfam_PDZ,pfam_GoLoco_motif,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_PTB/PI_dom,smart_Regulat_G_prot_signal_superfam,smart_Raf-like_ras-bd,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_PDZ,pfscan_PTB/PI_dom,pfscan_Raf-like_ras-bd,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS12 HGNC ENSG00000159788 28 0 0 7 13 65 HGFAC 0 genome.wustl.edu 37 4 3450973 3450973 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 3450973 3450973 G - DEL HGFAC ENST00000382774 human ensembl 74_37 +1 known frame_shift_del c.1795 p.L602fs 0.999 pirsf_Coagulation_fac_XIIa/HGFA,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A pirsf_Coagulation_fac_XIIa/HGFA,pfam_Peptidase_S1,pfam_Kringle,pfam_FN_type2_col-bd,pfam_Fibronectin_type1,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,smart_EG-like_dom,smart_Fibronectin_type1,smart_Kringle,smart_Peptidase_S1,pfscan_EG-like_dom,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Kringle,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors HGFAC HGNC ENSG00000109758 118 0 0 102 7 6.42202 TLR10 0 genome.wustl.edu 37 4 38774956 38774956 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 38774956 38774956 T - DEL TLR10 ENST00000308973 human ensembl 74_37 -1 known frame_shift_del c.2256 p.A753fs 0.718 pirsf_Toll-like_receptor,pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR10 HGNC ENSG00000174123 83 0 0 38 10 20.8333 GUF1 0 genome.wustl.edu 37 4 44680574 44680574 + RNA DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 44680574 44680574 A - DEL GUF1 ENST00000506793 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors GUF1 HGNC ENSG00000151806 9 0 0 7 3 30 FRYL 0 genome.wustl.edu 37 4 48566025 48566025 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 48566025 48566025 G - DEL FRYL ENST00000358350 human ensembl 74_37 -1 known frame_shift_del c.3536 p.T1179fs 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FRYL HGNC ENSG00000075539 105 0 0 66 7 9.58904 AASDH 0 genome.wustl.edu 37 4 57244505 57244505 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 57244505 57244505 T - DEL AASDH ENST00000205214 human ensembl 74_37 -1 known frame_shift_del c.477 p.E160fs 0.802 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig,pfam_Acyl_carrier_prot-like,superfamily_Quinonprotein_ADH-like_supfam,superfamily_Acyl_carrier_prot-like,smart_PQQ_beta_propeller_repeat,pfscan_Acyl_carrier_prot-like - no_errors AASDH HGNC ENSG00000157426 46 0 0 21 19 47.5 C4orf26 0 genome.wustl.edu 37 4 76489680 76489681 + Frame_Shift_Del DEL AA AA - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 76489680 76489681 AA - DEL C4orf26 ENST00000435974 human ensembl 74_37 +1 putative frame_shift_del c.468_469 p.S159fs 0.001:0.000 NULL NULL - no_errors C4orf26 HGNC ENSG00000174792 108 0 0 73 28 27.7228 ANTXR2 0 genome.wustl.edu 37 4 80905990 80905990 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 80905990 80905990 C - DEL ANTXR2 ENST00000307333 human ensembl 74_37 -1 known frame_shift_del c.1069 p.A357fs 0.559 pirsf_Anthrax_toxin_rcpt pirsf_Anthrax_toxin_rcpt,pfam_Anthrax_toxin_rcpt_C,pfam_Anthrax_toxin_rcpt_extracel,pfam_VWF_A,superfamily_Ig_E-set,smart_VWF_A,pfscan_VWF_A - no_errors ANTXR2 HGNC ENSG00000163297 18 0 0 8 4 33.3333 HNRNPD 0 genome.wustl.edu 37 4 83276431 83276431 + RNA DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 83276431 83276431 A - DEL HNRNPD ENST00000508119 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors HNRNPD HGNC ENSG00000138668 23 0 0 9 5 35.7143 SEC31A 0 genome.wustl.edu 37 4 83763593 83763594 + Frame_Shift_Ins INS - - C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 83763593 83763594 - C INS SEC31A ENST00000432794 human ensembl 74_37 -1 known frame_shift_ins c.2668_2667 p.S889fs 0.852:0.901 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors SEC31A HGNC ENSG00000138674 25 0 0 11 6 35.2941 SEC31A 0 genome.wustl.edu 37 4 83785565 83785565 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 83785565 83785565 T - DEL SEC31A ENST00000432794 human ensembl 74_37 -1 known frame_shift_del c.1384 p.I462fs 0.985 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors SEC31A HGNC ENSG00000138674 77 0 0 38 16 29.6296 THAP9 0 genome.wustl.edu 37 4 83838351 83838351 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 83838351 83838351 T - DEL THAP9 ENST00000302236 human ensembl 74_37 +1 known frame_shift_del c.986 p.F330fs 0.878 NULL pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH - no_errors THAP9 HGNC ENSG00000168152 192 0 0 95 6 5.94059 CDS1 0 genome.wustl.edu 37 4 85525494 85525495 + Frame_Shift_Ins INS - - A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 85525494 85525495 - A INS CDS1 ENST00000295887 human ensembl 74_37 +1 known frame_shift_ins c.216_217 p.A74fs 1.000:1.000 pirsf_PC_Trfase_euk pfam_PC_trans,pirsf_PC_Trfase_euk - no_errors CDS1 HGNC ENSG00000163624 119 0 0 42 24 36.3636 WDFY3 0 genome.wustl.edu 37 4 85676453 85676453 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 85676453 85676453 A - DEL WDFY3 ENST00000295888 human ensembl 74_37 -1 known frame_shift_del c.5525 p.L1842fs 0.996 NULL pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl_sf,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY3 HGNC ENSG00000163625 93 0 0 48 14 22.5806 HERC5 0 genome.wustl.edu 37 4 89407334 89407334 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 89407334 89407334 T - DEL HERC5 ENST00000264350 human ensembl 74_37 +1 known frame_shift_del c.1806 p.F604fs 0.938 NULL pfam_HECT,pfam_Reg_chr_condens,superfamily_HECT,superfamily_RCC1/BLIP-II,superfamily_Haem_Oase-like_multi-hlx,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors HERC5 HGNC ENSG00000138646 156 1 0.636943 61 25 29.0698 UNC5C 0 genome.wustl.edu 37 4 96140294 96140294 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 4 96140294 96140294 G - DEL UNC5C ENST00000453304 human ensembl 74_37 -1 known frame_shift_del c.1471 p.Q491fs 0.999 NULL pfam_ZU5,pfam_Death_domain,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom - no_errors UNC5C HGNC ENSG00000182168 262 0 0 151 67 30.7339 DMXL1 0 genome.wustl.edu 37 5 118480239 118480239 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 118480239 118480239 A - DEL DMXL1 ENST00000539542 human ensembl 74_37 +1 known frame_shift_del c.2475 p.T827fs 1.000 superfamily_WD40_repeat_dom pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL1 HGNC ENSG00000172869 164 0 0 72 23 24.2105 ADAMTS19 0 genome.wustl.edu 37 5 129030453 129030454 + Frame_Shift_Ins INS - - A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 129030453 129030454 - A INS ADAMTS19 ENST00000274487 human ensembl 74_37 +1 known frame_shift_ins c.2841_2842 p.N948fs 1.000:1.000 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_PLAC,pfam_Pept_M10_metallopeptidase,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS19 HGNC ENSG00000145808 98 0 0 54 26 32.5 CLPTM1L 0 genome.wustl.edu 37 5 1331940 1331941 + In_Frame_Ins INS - - TCT TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 1331940 1331941 - TCT INS CLPTM1L ENST00000320895 human ensembl 74_37 -1 known in_frame_ins c.950_949 p.317in_frame_insK 1.000:1.000 pfam_CLPTM1 pfam_CLPTM1 - no_errors CLPTM1L HGNC ENSG00000049656 60 0 0 44 11 20 MATR3 0 genome.wustl.edu 37 5 138643543 138643545 + In_Frame_Del DEL AGG AGG - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 AGG AGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 138643543 138643545 AGG - DEL MATR3 ENST00000361059 human ensembl 74_37 +1 known in_frame_del c.439_441 p.R149in_frame_del 1.000:1.000:1.000 NULL smart_Znf_U1,smart_RRM_dom,pfscan_Znf_C2H2_matrin,pfscan_RRM_dom - no_errors MATR3 HGNC ENSG00000015479 86 0 0 40 18 31.0345 TMEM173 0 genome.wustl.edu 37 5 138857068 138857068 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 138857068 138857068 G - DEL TMEM173 ENST00000330794 human ensembl 74_37 -1 known frame_shift_del c.792 p.L265fs 0.110 NULL NULL - no_errors TMEM173 HGNC ENSG00000184584 119 0 0 53 29 35.3659 WDR55 0 genome.wustl.edu 37 5 140049102 140049102 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 140049102 140049102 A - DEL WDR55 ENST00000358337 human ensembl 74_37 +1 known frame_shift_del c.1015 p.K341fs 1.000 pirsf_WD_repeat_p55 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_WD_repeat_p55,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR55 HGNC ENSG00000120314 34 0 0 33 21 38.8889 PCDHB4 0 genome.wustl.edu 37 5 140502487 140502487 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 140502487 140502487 A - DEL PCDHB4 ENST00000194152 human ensembl 74_37 +1 known frame_shift_del c.907 p.K305fs 0.078 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB4 HGNC ENSG00000081818 191 0 0 154 25 13.9665 PCDHGB1 0 genome.wustl.edu 37 5 140730922 140730922 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 140730922 140730922 A - DEL PCDHGB1 ENST00000523390 human ensembl 74_37 +1 known frame_shift_del c.1095 p.V367fs 0.922 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB1 HGNC ENSG00000254221 29 0 0 15 9 37.5 PCDHGC5 0 genome.wustl.edu 37 5 140868884 140868884 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 140868884 140868884 G - DEL PCDHGC5 ENST00000252087 human ensembl 74_37 +1 known frame_shift_del c.77 p.V27fs 1.000 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGC5 HGNC ENSG00000240764 60 0 0 74 7 8.64198 TRIO 0 genome.wustl.edu 37 5 14387627 14387627 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 14387627 14387627 A - DEL TRIO ENST00000344204 human ensembl 74_37 +1 known frame_shift_del c.3651 p.K1219fs 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,superfamily_Capsid/spike_ssDNA_virus,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors TRIO HGNC ENSG00000038382 160 0 0 94 9 8.73786 RBM27 0 genome.wustl.edu 37 5 145647320 145647320 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 145647320 145647320 A - DEL RBM27 ENST00000265271 human ensembl 74_37 +1 known frame_shift_del c.2440 p.K816fs 1.000 NULL pfam_PWI_dom,pfam_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM27 HGNC ENSG00000091009 106 0 0 40 14 25.9259 TCERG1 0 genome.wustl.edu 37 5 145886723 145886723 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 145886723 145886723 A - DEL TCERG1 ENST00000296702 human ensembl 74_37 +1 known frame_shift_del c.2863 p.K957fs 1.000 pfam_FF_domain,superfamily_FF_domain,smart_FF_domain pfam_FF_domain,pfam_WW_dom,superfamily_FF_domain,superfamily_WW_dom,smart_WW_dom,smart_FF_domain,pfscan_WW_dom - no_errors TCERG1 HGNC ENSG00000113649 131 1 0.757576 50 35 41.1765 C5orf54 0 genome.wustl.edu 37 5 159822094 159822094 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 159822094 159822094 T - DEL C5orf54 ENST00000408953 human ensembl 74_37 -1 known frame_shift_del c.404 p.K135fs 1.000 NULL superfamily_RNaseH-like_dom - no_errors C5orf54 HGNC ENSG00000221886 123 0 0 68 6 8.10811 TENM2 0 genome.wustl.edu 37 5 167553862 167553862 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 167553862 167553862 C - DEL TENM2 ENST00000518659 human ensembl 74_37 +1 known frame_shift_del c.2313 p.R773fs 1.000 pfam_EGF_extracell,smart_EG-like_dom pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf,superfamily_Cytokine_IL1-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM2 HGNC ENSG00000145934 17 0 0 18 12 40 FOXI1 0 genome.wustl.edu 37 5 169533034 169533034 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 169533034 169533034 C - DEL FOXI1 ENST00000306268 human ensembl 74_37 +1 known frame_shift_del c.73 p.E27fs 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXI1 HGNC ENSG00000168269 51 0 0 29 16 35.5556 SH3PXD2B 0 genome.wustl.edu 37 5 171766334 171766334 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 171766334 171766334 T - DEL SH3PXD2B ENST00000311601 human ensembl 74_37 -1 known frame_shift_del c.1775 p.N592fs 1.000 NULL pfam_SH3_domain,pfam_SH3_2,pfam_Phox,pfam_SH3-like_bac-type,pfam_DUF1058,superfamily_Phox,superfamily_SH3_domain,smart_Phox,smart_SH3_domain,pfscan_Phox,pfscan_SH3_domain - no_errors SH3PXD2B HGNC ENSG00000174705 124 0 0 81 40 33.0579 GPRIN1 0 genome.wustl.edu 37 5 176026665 176026665 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 176026665 176026665 G - DEL GPRIN1 ENST00000303991 human ensembl 74_37 -1 known frame_shift_del c.171 p.R58fs 0.001 NULL NULL - no_errors GPRIN1 HGNC ENSG00000169258 157 0 0 91 21 18.75 FAM193B 0 genome.wustl.edu 37 5 176951522 176951522 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 176951522 176951522 G - DEL FAM193B ENST00000443375 human ensembl 74_37 -1 known frame_shift_del c.1861 p.R621fs 0.000 NULL NULL - no_errors FAM193B HGNC ENSG00000146067 53 0 0 23 11 32.3529 HNRNPH1 0 genome.wustl.edu 37 5 179044644 179044644 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 179044644 179044644 A - DEL HNRNPH1 ENST00000356731 human ensembl 74_37 -1 known frame_shift_del c.928 p.S310fs 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,pfam_Znf_CHHC,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPH1 HGNC ENSG00000169045 116 0 0 69 27 28.125 BTNL8 0 genome.wustl.edu 37 5 180374579 180374580 + Frame_Shift_Ins INS - - T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 180374579 180374580 - T INS BTNL8 ENST00000340184 human ensembl 74_37 +1 known frame_shift_ins c.741_742 p.G249fs 0.000:0.000 NULL pfam_SPRY_rcpt,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Ig-like_dom - no_errors BTNL8 HGNC ENSG00000113303 396 1 0.251889 159 92 36.6534 TRIM7 0 genome.wustl.edu 37 5 180630563 180630565 + In_Frame_Del DEL CTT CTT - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 180630563 180630565 CTT - DEL TRIM7 ENST00000274773 human ensembl 74_37 -1 known in_frame_del c.600_598 p.K200in_frame_del 1.000:1.000:1.000 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin,prints_Znf_B-box_chordata - no_errors TRIM7 HGNC ENSG00000146054 123 0 0 69 29 29.5918 CDH18 0 genome.wustl.edu 37 5 19473809 19473809 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 19473809 19473809 A - DEL CDH18 ENST00000274170 human ensembl 74_37 -1 known frame_shift_del c.1899 p.F633fs 1.000 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH18 HGNC ENSG00000145526 242 0 0 152 81 34.7639 PDZD2 0 genome.wustl.edu 37 5 31799656 31799657 + Frame_Shift_Ins INS - - G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 31799656 31799657 - G INS PDZD2 ENST00000282493 human ensembl 74_37 +1 known frame_shift_ins c.301_302 p.K104fs 1.000:1.000 superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD2 HGNC ENSG00000133401 140 0 0 98 14 12.5 SLC1A3 0 genome.wustl.edu 37 5 36679798 36679799 + Frame_Shift_Ins INS - - G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 36679798 36679799 - G INS SLC1A3 ENST00000265113 human ensembl 74_37 +1 known frame_shift_ins c.930_931 p.Q312fs 0.959:1.000 pfam_Na-dicarboxylate_symporter pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter - no_errors SLC1A3 HGNC ENSG00000079215 258 0 0 181 18 9.04523 NIPBL 0 genome.wustl.edu 37 5 36995693 36995693 + RNA DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 36995693 36995693 T - DEL NIPBL ENST00000503274 human ensembl 74_37 +1 known rna NULL NULL 0.879 - - - no_errors NIPBL HGNC ENSG00000164190 52 0 0 21 11 34.375 FYB 0 genome.wustl.edu 37 5 39203040 39203040 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 39203040 39203040 C - DEL FYB ENST00000540520 human ensembl 74_37 -1 known frame_shift_del c.53 p.G18fs 0.999 NULL pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain - no_errors FYB HGNC ENSG00000082074 119 0 0 51 20 28.169 GPX8 0 genome.wustl.edu 37 5 54460113 54460113 + RNA DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 54460113 54460113 T - DEL GPX8 ENST00000506123 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors GPX8 HGNC ENSG00000164294 16 0 0 9 5 35.7143 SLC38A9 0 genome.wustl.edu 37 5 54941671 54941671 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 54941671 54941671 A - DEL SLC38A9 ENST00000318672 human ensembl 74_37 -1 known frame_shift_del c.1113 p.F371fs 1.000 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC38A9 HGNC ENSG00000177058 60 0 0 39 15 27.7778 ERCC8 0 genome.wustl.edu 37 5 60187968 60187968 + RNA DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 60187968 60187968 T - DEL ERCC8 ENST00000462279 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ERCC8 HGNC ENSG00000049167 24 0 0 11 10 47.619 PPWD1 0 genome.wustl.edu 37 5 64865507 64865508 + Frame_Shift_Ins INS - - A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 64865507 64865508 - A INS PPWD1 ENST00000261308 human ensembl 74_37 +1 known frame_shift_ins c.348_349 p.I118fs 1.000:1.000 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_Cyclophilin-like_PPIase_dom,pfam_WD40_repeat,superfamily_Cyclophilin-like_PPIase_dom,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors PPWD1 HGNC ENSG00000113593 76 0 0 37 14 27.451 NSUN2 0 genome.wustl.edu 37 5 6620235 6620236 + Frame_Shift_Del DEL AT AT - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 AT AT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 6620235 6620236 AT - DEL NSUN2 ENST00000264670 human ensembl 74_37 -1 known frame_shift_del c.799_798 p.C267fs 0.996:0.001 pfam_Fmu/NOL1/Nop2p,prints_RCMT pfam_Fmu/NOL1/Nop2p,prints_RCMT,prints_RCMT_NCL1 - no_errors NSUN2 HGNC ENSG00000037474 111 0 0 58 31 34.8315 MAST4 0 genome.wustl.edu 37 5 66462833 66462833 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 66462833 66462833 G - DEL MAST4 ENST00000404260 human ensembl 74_37 +1 known frame_shift_del c.7835 p.E2615fs 1.000 NULL pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom - no_errors MAST4 HGNC ENSG00000069020 25 0 0 30 6 16.6667 CCDC125 0 genome.wustl.edu 37 5 68609711 68609712 + RNA INS - - A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 68609711 68609712 - A INS CCDC125 ENST00000513172 human ensembl 74_37 -1 known rna NULL NULL 0.004:0.001 - - - no_errors CCDC125 HGNC ENSG00000183323 91 0 0 34 26 43.3333 BDP1 0 genome.wustl.edu 37 5 70837318 70837319 + Frame_Shift_Ins INS - - A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 70837318 70837319 - A INS BDP1 ENST00000358731 human ensembl 74_37 +1 known frame_shift_ins c.6060_6061 p.S2021fs 0.016:0.028 NULL superfamily_Homeodomain-like,smart_SANT/Myb - no_errors BDP1 HGNC ENSG00000145734 130 0 0 42 20 32.2581 ZNF366 0 genome.wustl.edu 37 5 71743139 71743139 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 71743139 71743139 G - DEL ZNF366 ENST00000318442 human ensembl 74_37 -1 known frame_shift_del c.1630 p.L544fs 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF366 HGNC ENSG00000178175 125 0 0 57 25 30.4878 POLK 0 genome.wustl.edu 37 5 74893608 74893609 + Frame_Shift_Ins INS - - A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 74893608 74893609 - A INS POLK ENST00000241436 human ensembl 74_37 +1 known frame_shift_ins c.2522_2523 p.R843fs 0.987:0.992 NULL pfam_DNA_repair_prot_UmuC-like,pfam_DNA_pol_Y-fam_little_finger,pfam_PolY_HhH_motif,superfamily_DNA_pol_Y-fam_little_finger,smart_Znf_Rad18_put,pfscan_DNA_repair_prot_UmuC-like_N - no_errors POLK HGNC ENSG00000122008 100 0 0 32 18 36 TBCA 0 genome.wustl.edu 37 5 76989051 76989052 + Frame_Shift_Del DEL AA AA - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 76989051 76989052 AA - DEL TBCA ENST00000306388 human ensembl 74_37 -1 putative frame_shift_del c.286_285 p.S96fs 0.176:0.181 NULL pfam_CofA_tubulin-bd,superfamily_CofA_tubulin-bd - no_errors TBCA HGNC ENSG00000171530 30 0 0 8 6 42.8571 AP3B1 0 genome.wustl.edu 37 5 77334907 77334907 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 77334907 77334907 T - DEL AP3B1 ENST00000255194 human ensembl 74_37 -1 known frame_shift_del c.2769 p.K923fs 0.419 pirsf_AP3_beta pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_beta - no_errors AP3B1 HGNC ENSG00000132842 55 0 0 29 4 12.1212 CKMT2-AS1 0 genome.wustl.edu 37 5 80515512 80515513 + RNA INS - - T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 80515512 80515513 - T INS CKMT2-AS1 ENST00000503483 human ensembl 74_37 -1 known rna NULL NULL 0.002:0.000 - - - no_errors CKMT2-AS1 HGNC ENSG00000247572 41 0 0 30 7 18.9189 VCAN 0 genome.wustl.edu 37 5 82832816 82832816 + RNA DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 82832816 82832816 T - DEL VCAN ENST00000513016 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors VCAN HGNC ENSG00000038427 42 0 0 17 10 37.037 LYSMD3 0 genome.wustl.edu 37 5 89815219 89815219 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 5 89815219 89815219 T - DEL LYSMD3 ENST00000315948 human ensembl 74_37 -1 known frame_shift_del c.338 p.K113fs 0.999 NULL pfam_LysM_dom,smart_LysM_dom - no_errors LYSMD3 HGNC ENSG00000176018 93 0 0 35 19 35.1852 GRIK2 0 genome.wustl.edu 37 6 102503431 102503432 + Frame_Shift_Ins INS - - A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 102503431 102503432 - A INS GRIK2 ENST00000421544 human ensembl 74_37 +1 known frame_shift_ins c.2538_2539 p.N848fs 1.000:1.000 NULL pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK2 HGNC ENSG00000164418 151 0 0 103 11 9.64912 BEND3 0 genome.wustl.edu 37 6 107391602 107391602 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 107391602 107391602 C - DEL BEND3 ENST00000369042 human ensembl 74_37 -1 known frame_shift_del c.793 p.D265fs 1.000 pfam_BEN_domain pfam_BEN_domain - no_errors BEND3 HGNC ENSG00000178409 43 0 0 38 19 33.3333 TMEM14B 0 genome.wustl.edu 37 6 10756864 10756864 + RNA DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 10756864 10756864 A - DEL TMEM14B ENST00000486421 human ensembl 74_37 +1 known rna NULL NULL 0.005 - - - no_errors TMEM14B HGNC ENSG00000137210 13 0 0 5 3 37.5 SCML4 0 genome.wustl.edu 37 6 108076791 108076791 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 108076791 108076791 G - DEL SCML4 ENST00000369021 human ensembl 74_37 -1 known frame_shift_del c.53 p.P18fs 0.000 NULL pfam_DUF3588 - no_errors SCML4 HGNC ENSG00000146285 85 0 0 38 23 37.7049 NR2E1 0 genome.wustl.edu 37 6 108508598 108508599 + Frame_Shift_Ins INS - - A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 108508598 108508599 - A INS NR2E1 ENST00000368986 human ensembl 74_37 +1 known frame_shift_ins c.1089_1090 p.T365fs 1.000:1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt - no_errors NR2E1 HGNC ENSG00000112333 195 0 0 95 25 20.8333 REV3L 0 genome.wustl.edu 37 6 111688632 111688632 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 111688632 111688632 G - DEL REV3L ENST00000358835 human ensembl 74_37 -1 known frame_shift_del c.6359 p.P2120fs 1.000 superfamily_RNaseH-like_dom pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B - no_errors REV3L HGNC ENSG00000009413 230 0 0 90 42 31.8182 WISP3 0 genome.wustl.edu 37 6 112389434 112389435 + Frame_Shift_Del DEL AA AA - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 112389434 112389435 AA - DEL WISP3 ENST00000361714 human ensembl 74_37 +1 known frame_shift_del c.670_671 p.K226fs 1.000:1.000 superfamily_Thrombospondin_1_rpt,pirsf_IGFBP_CNN,pfscan_Thrombospondin_1_rpt pfam_IGFBP-like,pfam_Cys_knot,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_IGFBP-like,smart_Thrombospondin_1_rpt,smart_Cys_knot_C,pirsf_IGFBP_CNN,pfscan_Cys_knot_C,pfscan_Thrombospondin_1_rpt - no_errors WISP3 HGNC ENSG00000112761 49 0 0 23 10 30.303 MARCKS 0 genome.wustl.edu 37 6 114181210 114181211 + Frame_Shift_Del DEL AA AA - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 114181210 114181211 AA - DEL MARCKS ENST00000368635 human ensembl 74_37 +1 known frame_shift_del c.454_455 p.K155fs 1.000:1.000 pfam_MARCKS pfam_MARCKS,prints_MARCKS - no_errors MARCKS HGNC ENSG00000155130 28 0 0 11 8 42.1053 RNF217 0 genome.wustl.edu 37 6 125283913 125283913 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 125283913 125283913 C - DEL RNF217 ENST00000521654 human ensembl 74_37 +1 novel frame_shift_del c.223 p.P76fs 0.069 NULL pfam_Znf_C6HC,smart_Znf_C6HC - no_errors RNF217 HGNC ENSG00000146373 24 0 0 14 17 54.8387 IL20RA 0 genome.wustl.edu 37 6 137323176 137323176 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 137323176 137323176 G - DEL IL20RA ENST00000316649 human ensembl 74_37 -1 known frame_shift_del c.1181 p.P394fs 0.000 NULL pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3 - no_errors IL20RA HGNC ENSG00000016402 99 0 0 38 14 26.9231 SASH1 0 genome.wustl.edu 37 6 148865778 148865778 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 148865778 148865778 C - DEL SASH1 ENST00000367467 human ensembl 74_37 +1 known frame_shift_del c.3172 p.W1060fs 1.000 NULL pfam_rSAM/SH3_domain-containing,pfam_SAM_2,pfam_SAM_type1,pfam_SH3_2,superfamily_SAM/pointed,superfamily_SH3_domain,smart_SH3_domain,smart_SAM,pfscan_SAM - no_errors SASH1 HGNC ENSG00000111961 41 0 0 14 12 46.1538 SYNE1 0 genome.wustl.edu 37 6 152762390 152762391 + Frame_Shift_Ins INS - - T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 152762390 152762391 - T INS SYNE1 ENST00000265368 human ensembl 74_37 -1 known frame_shift_ins c.4024_4023 p.W1341fs 1.000:0.996 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 28 0 0 9 6 40 JARID2 0 genome.wustl.edu 37 6 15496635 15496636 + Frame_Shift_Ins INS - - G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 15496635 15496636 - G INS JARID2 ENST00000341776 human ensembl 74_37 +1 known frame_shift_ins c.1179_1180 p.A395fs 1.000:1.000 NULL pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_TF_JmjN,pfam_Znf_C5HC2,superfamily_ARID/BRIGHT_DNA-bd,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_ARID/BRIGHT_DNA-bd - no_errors JARID2 HGNC ENSG00000008083 152 0 0 140 30 17.6471 SCAF8 0 genome.wustl.edu 37 6 155145472 155145472 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 155145472 155145472 T - DEL SCAF8 ENST00000367186 human ensembl 74_37 +1 known frame_shift_del c.2229 p.L745fs 1.000 NULL pfam_RNA_pol_II-bd,pfam_RRM_dom,superfamily_ENTH_VHS,smart_CID_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SCAF8 HGNC ENSG00000213079 224 0 0 91 35 27.7778 SYNJ2 0 genome.wustl.edu 37 6 158508009 158508009 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 158508009 158508009 C - DEL SYNJ2 ENST00000355585 human ensembl 74_37 +1 known frame_shift_del c.3331 p.P1113fs 1.000 NULL pfam_Syja_N,pfam_DUF1866,pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc,pfscan_RRM_dom,pfscan_Syja_N - no_errors SYNJ2 HGNC ENSG00000078269 72 0 0 33 20 37.7358 OSTCP1 0 genome.wustl.edu 37 6 159262512 159262512 + RNA DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 159262512 159262512 A - DEL OSTCP1 ENST00000522287 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors OSTCP1 HGNC ENSG00000243775 8 0 0 2 3 60 WTAP 0 genome.wustl.edu 37 6 160157348 160157348 + RNA DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 160157348 160157348 T - DEL WTAP ENST00000494513 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors WTAP HGNC ENSG00000146457 71 0 0 33 7 17.5 MLLT4 0 genome.wustl.edu 37 6 168370555 168370556 + Frame_Shift_Ins INS - - A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 168370555 168370556 - A INS MLLT4 ENST00000366806 human ensembl 74_37 +1 known frame_shift_ins c.5415_5416 p.N1805fs 0.972:0.976 NULL pfam_Ras-assoc,pfam_Dil_domain,pfam_PDZ,pfam_FHA_dom,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_FHA_dom,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc - no_errors MLLT4 HGNC ENSG00000130396 44 0 0 18 8 30.7692 THBS2 0 genome.wustl.edu 37 6 169648522 169648523 + Frame_Shift_Del DEL CT CT - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 169648522 169648523 CT - DEL THBS2 ENST00000366787 human ensembl 74_37 -1 known frame_shift_del c.599_598 p.H201fs 0.953:0.970 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_Thrombospondin_C,pfam_Thrombospondin_1_rpt,pfam_VWF_C,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Thrombospondin_1_rpt,smart_Laminin_G,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C - no_errors THBS2 HGNC ENSG00000186340 233 0 0 148 79 34.8018 RBM24 0 genome.wustl.edu 37 6 17292449 17292450 + RNA DEL AA AA - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 17292449 17292450 AA - DEL RBM24 ENST00000508508 human ensembl 74_37 +1 known rna NULL NULL 0.915:0.719 - - - no_errors RBM24 HGNC ENSG00000112183 37 0 0 10 20 66.6667 SLC17A3 0 genome.wustl.edu 37 6 25861923 25861923 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 25861923 25861923 C - DEL SLC17A3 ENST00000397060 human ensembl 74_37 -1 known frame_shift_del c.554 p.G185fs 0.960 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A3 HGNC ENSG00000124564 123 0 0 69 14 16.8675 BTN2A2 0 genome.wustl.edu 37 6 26390383 26390383 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 26390383 26390383 A - DEL BTN2A2 ENST00000356709 human ensembl 74_37 +1 known frame_shift_del c.875 p.K294fs 0.000 NULL pfam_SPRY_rcpt,pfam_Ig_V-set,pfam_CD80_C2-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Ig-like_dom - no_errors BTN2A2 HGNC ENSG00000124508 89 0 0 32 25 43.8596 NKAPL 0 genome.wustl.edu 37 6 28227519 28227520 + Frame_Shift_Del DEL GA GA - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 GA GA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 28227519 28227520 GA - DEL NKAPL ENST00000343684 human ensembl 74_37 +1 known frame_shift_del c.370_371 p.R127fs 0.996:1.000 NULL pfam_DUF926 - no_errors NKAPL HGNC ENSG00000189134 178 1 0.558659 130 62 32.2917 GPX5 0 genome.wustl.edu 37 6 28502011 28502011 + RNA DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 28502011 28502011 A - DEL GPX5 ENST00000442674 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors GPX5 HGNC ENSG00000224586 22 0 0 11 8 42.1053 MAS1L 0 genome.wustl.edu 37 6 29455056 29455056 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 29455056 29455056 T - DEL MAS1L ENST00000377127 human ensembl 74_37 -1 known frame_shift_del c.624 p.K208fs 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors MAS1L HGNC ENSG00000204687 77 0 0 39 24 38.0952 GABBR1 0 genome.wustl.edu 37 6 29577143 29577144 + Frame_Shift_Ins INS - - G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 29577143 29577144 - G INS GABBR1 ENST00000377034 human ensembl 74_37 -1 known frame_shift_ins c.1722_1721 p.A575fs 0.997:1.000 superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Sushi_SCR_CCP,superfamily_Peripla_BP_I,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,prints_GPCR_3_GABA_rcpt_B,prints_GPCR_3_GABA_rcpt_B1,pfscan_Sushi_SCR_CCP,pfscan_GPCR_3_C - no_errors GABBR1 HGNC ENSG00000204681 61 0 0 52 6 10.3448 PPP1R11 0 genome.wustl.edu 37 6 30037057 30037057 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 30037057 30037057 C - DEL PPP1R11 ENST00000376772 human ensembl 74_37 +1 known frame_shift_del c.355 p.P120fs 1.000 NULL pfam_PPI_Ypi1 - no_errors PPP1R11 HGNC ENSG00000204619 127 0 0 118 9 7.08661 MDC1 0 genome.wustl.edu 37 6 30681463 30681463 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 30681463 30681463 T - DEL MDC1 ENST00000376406 human ensembl 74_37 -1 known frame_shift_del c.549 p.K183fs 0.166 NULL pfam_FHA_dom,superfamily_BRCT_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_BRCT_dom,pfscan_FHA_dom - no_errors MDC1 HGNC ENSG00000137337 61 0 0 25 18 41.8605 ABHD16A 0 genome.wustl.edu 37 6 31657478 31657478 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 31657478 31657478 C - DEL ABHD16A ENST00000395952 human ensembl 74_37 -1 known frame_shift_del c.961 p.V321fs 1.000 pfam_AB_hydrolase_1 pfam_AB_hydrolase_1 - no_errors ABHD16A HGNC ENSG00000204427 42 0 0 34 6 15 NELFE 0 genome.wustl.edu 37 6 31926206 31926206 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 31926206 31926206 G - DEL NELFE ENST00000375429 human ensembl 74_37 -1 known frame_shift_del c.18 p.G7fs 0.996 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors NELFE HGNC ENSG00000204356 119 1 0.833333 85 29 25.4386 TNXB 0 genome.wustl.edu 37 6 32057080 32057080 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 32057080 32057080 G - DEL TNXB ENST00000375247 human ensembl 74_37 -1 known frame_shift_del c.2435 p.P812fs 0.998 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC ENSG00000168477 33 0 0 15 13 46.4286 COL11A2 0 genome.wustl.edu 37 6 33152075 33152075 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 33152075 33152075 G - DEL COL11A2 ENST00000341947 human ensembl 74_37 -1 known frame_shift_del c.966 p.T323fs 0.989 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 75 0 0 41 21 33.871 VPS52 0 genome.wustl.edu 37 6 33219710 33219711 + Frame_Shift_Ins INS - - C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 33219710 33219711 - C INS VPS52 ENST00000445902 human ensembl 74_37 -1 known frame_shift_ins c.1833_1832 p.L612fs 0.981:1.000 NULL pfam_Vps52,pfam_Exocyst_Exoc1/SEC3 - no_errors VPS52 HGNC ENSG00000223501 74 0 0 45 26 36.6197 TAPBP 0 genome.wustl.edu 37 6 33272175 33272175 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 33272175 33272175 G - DEL TAPBP ENST00000426633 human ensembl 74_37 -1 known frame_shift_del c.1109 p.P370fs 0.060 pfam_Ig_C1-set,pfscan_Ig-like_dom pfam_Ig_C1-set,pfscan_Ig-like_dom,prints_Tapasin - no_errors TAPBP HGNC ENSG00000231925 78 0 0 59 35 37.234 FKBP5 0 genome.wustl.edu 37 6 35543652 35543655 + Frame_Shift_Del DEL CTGT CTGT - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 CTGT CTGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 35543652 35543655 CTGT - DEL FKBP5 ENST00000357266 human ensembl 74_37 -1 known frame_shift_del c.1334_1331 p.D444fs 0.000:0.000:0.000:0.000 NULL pfam_PPIase_FKBP_dom,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_PPIase_FKBP_dom - no_errors FKBP5 HGNC ENSG00000096060 343 0 0 197 18 8.37209 TBC1D22B 0 genome.wustl.edu 37 6 37250063 37250063 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 37250063 37250063 C - DEL TBC1D22B ENST00000373491 human ensembl 74_37 +1 known frame_shift_del c.524 p.P177fs 0.996 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D22B HGNC ENSG00000065491 82 0 0 53 21 28.3784 CCND3 0 genome.wustl.edu 37 6 42016369 42016369 + RNA DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 42016369 42016369 C - DEL CCND3 ENST00000511686 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors CCND3 HGNC ENSG00000112576 30 0 0 17 12 41.3793 CUL9 0 genome.wustl.edu 37 6 43192183 43192184 + Frame_Shift_Ins INS - - G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 43192183 43192184 - G INS CUL9 ENST00000252050 human ensembl 74_37 +1 known frame_shift_ins c.7554_7555 p.*2518fs 1.000:1.000 NULL pfam_Cullin_N,pfam_CPH_domain,pfam_Znf_C6HC,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,superfamily_UBA-like,smart_Cullin_neddylation_domain,smart_Znf_C6HC,pfscan_Znf_RING,pfscan_Cullin_homology - no_errors CUL9 HGNC ENSG00000112659 35 0 0 34 12 26.087 AARS2 0 genome.wustl.edu 37 6 44268860 44268860 + RNA DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 44268860 44268860 G - DEL AARS2 ENST00000491573 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AARS2 HGNC ENSG00000124608 55 0 0 37 17 31.4815 AARS2 0 genome.wustl.edu 37 6 44269193 44269193 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 44269193 44269193 C - DEL AARS2 ENST00000244571 human ensembl 74_37 -1 known frame_shift_del c.2607 p.T871fs 0.008 tigrfam_Ala-tRNA-lgiase_IIc pfam_Ala-tRNA-synth_IIc_N,pfam_tRNA_SAD,superfamily_Ala-tRNA-ligase_IIc_anticod-bd,superfamily_Thr/Ala-tRNA-synth_IIc_edit,smart_tRNA_SAD,prints_Ala-tRNA-lgiase_IIc,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-lgiase_IIc - no_errors AARS2 HGNC ENSG00000124608 167 0 0 138 42 23.3333 CDC5L 0 genome.wustl.edu 37 6 44371563 44371563 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 44371563 44371563 A - DEL CDC5L ENST00000371477 human ensembl 74_37 +1 known frame_shift_del c.557 p.R188fs 1.000 NULL pfam_DUF3351,pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors CDC5L HGNC ENSG00000096401 54 0 0 39 32 45.0704 BEND6 0 genome.wustl.edu 37 6 56846680 56846681 + Frame_Shift_Del DEL AG AG - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 56846680 56846681 AG - DEL BEND6 ENST00000370746 human ensembl 74_37 +1 known frame_shift_del c.72_73 p.E25fs 0.998:1.000 NULL pfam_BEN_domain - no_errors BEND6 HGNC ENSG00000151917 147 0 0 66 29 30.5263 LMBRD1 0 genome.wustl.edu 37 6 70500277 70500277 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 70500277 70500277 A - DEL LMBRD1 ENST00000370577 human ensembl 74_37 -1 known frame_shift_del c.157 p.S53fs 1.000 pfam_LMBR1-like_membr_prot pfam_LMBR1-like_membr_prot - no_errors LMBRD1 HGNC ENSG00000168216 70 0 0 28 8 22.2222 DDX43 0 genome.wustl.edu 37 6 74117732 74117732 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 74117732 74117732 A - DEL DDX43 ENST00000370336 human ensembl 74_37 +1 known frame_shift_del c.1087 p.G365fs 0.057 pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_KH_dom_type_1,superfamily_P-loop_NTPase,smart_KH_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_KH_dom_type_1,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX43 HGNC ENSG00000080007 96 0 0 33 25 43.1034 COL12A1 0 genome.wustl.edu 37 6 75851781 75851781 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 75851781 75851781 C - DEL COL12A1 ENST00000322507 human ensembl 74_37 -1 known frame_shift_del c.4924 p.E1642fs 0.276 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL12A1 HGNC ENSG00000111799 149 0 0 64 34 34.6939 MYO6 0 genome.wustl.edu 37 6 76599858 76599858 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 76599858 76599858 A - DEL MYO6 ENST00000369981 human ensembl 74_37 +1 known frame_shift_del c.2743 p.K917fs 1.000 NULL pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom - no_errors MYO6 HGNC ENSG00000196586 87 0 0 58 37 38.9474 DOPEY1 0 genome.wustl.edu 37 6 83877970 83877970 + RNA DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 83877970 83877970 T - DEL DOPEY1 ENST00000484282 human ensembl 74_37 +1 known rna NULL NULL 0.728 - - - no_errors DOPEY1 HGNC ENSG00000083097 13 0 0 3 4 57.1429 KIAA1009 0 genome.wustl.edu 37 6 84896233 84896233 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 84896233 84896233 A - DEL KIAA1009 ENST00000403245 human ensembl 74_37 -1 known frame_shift_del c.1218 p.F406fs 0.000 NULL NULL - no_errors KIAA1009 HGNC ENSG00000135315 163 1 0.609756 63 46 42.2018 SYNCRIP 0 genome.wustl.edu 37 6 86324832 86324832 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 86324832 86324832 C - DEL SYNCRIP ENST00000369622 human ensembl 74_37 -1 known frame_shift_del c.1514 p.G505fs 1.000 tigrfam_HnRNP_R/Q_splicing_fac pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac - no_errors SYNCRIP HGNC ENSG00000135316 129 0 0 107 25 18.9394 ZNF292 0 genome.wustl.edu 37 6 87970961 87970961 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 87970961 87970961 T - DEL ZNF292 ENST00000369577 human ensembl 74_37 +1 known frame_shift_del c.7614 p.N2538fs 0.220 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF292 HGNC ENSG00000188994 47 0 0 29 14 32.5581 ANKRD6 0 genome.wustl.edu 37 6 90340549 90340549 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 90340549 90340549 T - DEL ANKRD6 ENST00000339746 human ensembl 74_37 +1 known frame_shift_del c.2010 p.F672fs 0.996 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD6 HGNC ENSG00000135299 33 0 0 40 18 31.0345 CASP8AP2 0 genome.wustl.edu 37 6 90578753 90578754 + RNA INS - - A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 90578753 90578754 - A INS CASP8AP2 ENST00000237177 human ensembl 74_37 +1 known rna NULL NULL 1.000:0.997 - - - no_errors CASP8AP2 HGNC ENSG00000118412 23 0 0 6 6 50 PNISR 0 genome.wustl.edu 37 6 99849343 99849343 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 6 99849343 99849343 T - DEL PNISR ENST00000369239 human ensembl 74_37 -1 known frame_shift_del c.1491 p.E498fs 1.000 NULL NULL - no_errors PNISR HGNC ENSG00000132424 53 0 0 20 11 35.4839 MEPCE 0 genome.wustl.edu 37 7 100028068 100028068 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 100028068 100028068 G - DEL MEPCE ENST00000310512 human ensembl 74_37 +1 known frame_shift_del c.427 p.G145fs 0.496 NULL pfam_Bin3 - no_errors MEPCE HGNC ENSG00000146834 34 0 0 37 6 13.9535 PCOLCE-AS1 0 genome.wustl.edu 37 7 100187479 100187480 + RNA DEL GA GA - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 GA GA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 100187479 100187480 GA - DEL PCOLCE-AS1 ENST00000442166 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors PCOLCE-AS1 HGNC ENSG00000224729 29 0 0 29 5 14.7059 FBXO24 0 genome.wustl.edu 37 7 100187651 100187652 + Frame_Shift_Ins INS - - G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 100187651 100187652 - G INS FBXO24 ENST00000427939 human ensembl 74_37 +1 known frame_shift_ins c.205_206 p.K71fs 0.973:0.891 superfamily_F-box_dom pfam_F-box_dom,pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom,pfscan_Reg_chr_condens - no_errors FBXO24 HGNC ENSG00000106336 107 0 0 128 13 9.21986 FBXO24 0 genome.wustl.edu 37 7 100192729 100192729 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 100192729 100192729 G - DEL FBXO24 ENST00000427939 human ensembl 74_37 +1 known frame_shift_del c.1071 p.G359fs 1.000 superfamily_RCC1/BLIP-II pfam_F-box_dom,pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom,pfscan_Reg_chr_condens - no_errors FBXO24 HGNC ENSG00000106336 105 0 0 107 20 15.748 POP7 0 genome.wustl.edu 37 7 100304461 100304461 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 100304461 100304461 A - DEL POP7 ENST00000303151 human ensembl 74_37 +1 known frame_shift_del c.8 p.N4fs 0.995 pirsf_RNase_P/MRP_p20 pfam_DNA/RNA-bd_Alba-like,pirsf_RNase_P/MRP_p20 - no_errors POP7 HGNC ENSG00000172336 131 0 0 136 31 18.5629 SLC12A9 0 genome.wustl.edu 37 7 100424587 100424587 + RNA DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 100424587 100424587 G - DEL SLC12A9 ENST00000461016 human ensembl 74_37 +1 putative rna NULL NULL 0.006 - - - no_errors SLC12A9 HGNC ENSG00000146828 11 0 0 6 5 45.4545 TRIP6 0 genome.wustl.edu 37 7 100465746 100465746 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 100465746 100465746 G - DEL TRIP6 ENST00000200457 human ensembl 74_37 +1 known frame_shift_del c.254 p.G87fs 0.344 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors TRIP6 HGNC ENSG00000087077 126 0 0 79 15 15.9574 SH2B2 0 genome.wustl.edu 37 7 101957767 101957767 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 101957767 101957767 G - DEL SH2B2 ENST00000536178 human ensembl 74_37 +1 known frame_shift_del c.1411 p.R474fs 0.998 pfam_SH2,smart_SH2,pfscan_SH2 pfam_Phe_ZIP,pfam_Pleckstrin_homology,pfam_SH2,superfamily_Phe_ZIP,smart_Pleckstrin_homology,smart_SH2,pfscan_Pleckstrin_homology,pfscan_SH2,prints_SH2 - no_errors SH2B2 HGNC ENSG00000160999 31 0 0 52 9 14.7541 C7orf50 0 genome.wustl.edu 37 7 1037311 1037311 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 1037311 1037311 G - DEL C7orf50 ENST00000357429 human ensembl 74_37 -1 known frame_shift_del c.535 p.L179fs 0.001 NULL pfam_DUF2373 - no_errors C7orf50 HGNC ENSG00000146540 47 0 0 53 15 22.0588 BCAP29 0 genome.wustl.edu 37 7 107234540 107234540 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 107234540 107234540 T - DEL BCAP29 ENST00000379119 human ensembl 74_37 +1 known frame_shift_del c.334 p.W114fs 1.000 pfam_Bap31 pfam_Bap31 - no_errors BCAP29 HGNC ENSG00000075790 55 0 0 60 10 14.2857 PHF14 0 genome.wustl.edu 37 7 11022426 11022426 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 11022426 11022426 A - DEL PHF14 ENST00000403050 human ensembl 74_37 +1 known frame_shift_del c.540 p.K182fs 0.990 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF14 HGNC ENSG00000106443 63 0 0 94 13 12.1495 CAPZA2 0 genome.wustl.edu 37 7 116546325 116546326 + Frame_Shift_Ins INS - - A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 116546325 116546326 - A INS CAPZA2 ENST00000361183 human ensembl 74_37 +1 known frame_shift_ins c.435_436 p.I147fs 1.000:1.000 pfam_CapZ_alpha pfam_CapZ_alpha,prints_CapZ_alpha - no_errors CAPZA2 HGNC ENSG00000198898 60 0 0 38 9 19.1489 CFTR 0 genome.wustl.edu 37 7 117234990 117234990 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 117234990 117234990 T - DEL CFTR ENST00000003084 human ensembl 74_37 +1 known frame_shift_del c.2497 p.F834fs 1.000 superfamily_ABC1_TM_dom,tigrfam_cAMP_cl_channel pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_CysFib_conduc_TM,tigrfam_cAMP_cl_channel - no_errors CFTR HGNC ENSG00000001626 64 0 0 32 5 13.5135 CPED1 0 genome.wustl.edu 37 7 120911387 120911388 + Frame_Shift_Ins INS - - A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 120911387 120911388 - A INS CPED1 ENST00000310396 human ensembl 74_37 +1 known frame_shift_ins c.2771_2772 p.H927fs 1.000:1.000 NULL NULL - no_errors CPED1 HGNC ENSG00000106034 83 0 0 63 27 30 FEZF1 0 genome.wustl.edu 37 7 121943770 121943771 + Frame_Shift_Ins INS - - T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 121943770 121943771 - T INS FEZF1 ENST00000442488 human ensembl 74_37 -1 known frame_shift_ins c.722_721 p.I241fs 0.998:1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors FEZF1 HGNC ENSG00000128610 153 0 0 122 47 27.8107 WASL 0 genome.wustl.edu 37 7 123346380 123346380 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 123346380 123346380 T - DEL WASL ENST00000223023 human ensembl 74_37 -1 known frame_shift_del c.387 p.K129fs 1.000 pfam_WH1/EVH1,smart_WH1/EVH1,pfscan_WH1/EVH1 pfam_WH1/EVH1,pfam_CRIB_dom,pfam_WH2_dom,superfamily_WASP_C,smart_WH1/EVH1,smart_CRIB_dom,smart_WH2_dom,pfscan_CRIB_dom,pfscan_WH1/EVH1,pfscan_WH2_dom - no_errors WASL HGNC ENSG00000106299 39 0 0 37 7 15.9091 TNPO3 0 genome.wustl.edu 37 7 128610259 128610259 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 128610259 128610259 G - DEL TNPO3 ENST00000393245 human ensembl 74_37 -1 known frame_shift_del c.2643 p.Y882fs 0.805 NULL pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold - no_errors TNPO3 HGNC ENSG00000064419 216 1 0.460829 222 79 26.2458 TMEM140 0 genome.wustl.edu 37 7 134849483 134849483 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 134849483 134849483 C - DEL TMEM140 ENST00000275767 human ensembl 74_37 +1 known frame_shift_del c.290 p.Q99fs 0.001 NULL NULL - no_errors TMEM140 HGNC ENSG00000146859 105 0 0 92 26 22.0339 C7orf49 0 genome.wustl.edu 37 7 134851448 134851448 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 134851448 134851448 C - DEL C7orf49 ENST00000393114 human ensembl 74_37 -1 known frame_shift_del c.389 p.G130fs 0.000 NULL NULL - no_errors C7orf49 HGNC ENSG00000122783 127 0 0 116 25 17.7305 PTN 0 genome.wustl.edu 37 7 136938376 136938377 + Frame_Shift_Ins INS - - T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 136938376 136938377 - T INS PTN ENST00000348225 human ensembl 74_37 -1 known frame_shift_ins c.124_123 p.V41fs 1.000:1.000 pfam_PTN/MK_N_dom,superfamily_PTN/MK_diS pfam_PTN/MK_C_dom,pfam_PTN/MK_N_dom,superfamily_PTN/MK_diS,smart_Midkine_heparin-bd_GF,prints_Midkine_heparin-bd_GF - no_errors PTN HGNC ENSG00000105894 32 0 0 35 5 12.5 WEE2-AS1 0 genome.wustl.edu 37 7 141423729 141423729 + RNA DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 141423729 141423729 T - DEL WEE2-AS1 ENST00000459753 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors WEE2-AS1 HGNC ENSG00000228775 51 0 0 23 9 28.125 ZNF425 0 genome.wustl.edu 37 7 148809437 148809437 + RNA DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 148809437 148809437 T - DEL ZNF425 ENST00000484196 human ensembl 74_37 -1 known rna NULL NULL 0.013 - - - no_errors ZNF425 HGNC ENSG00000204947 146 0 0 134 41 23.4286 ZNF398 0 genome.wustl.edu 37 7 148875815 148875817 + In_Frame_Del DEL CTC CTC - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 148875815 148875817 CTC - DEL ZNF398 ENST00000540950 human ensembl 74_37 +1 known in_frame_del c.866_868 p.P291in_frame_del 0.007:0.000:0.013 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_DUF3669_Znf,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors ZNF398 HGNC ENSG00000197024 319 0 0 244 80 24.6914 ZNF398 0 genome.wustl.edu 37 7 148876153 148876153 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 148876153 148876153 C - DEL ZNF398 ENST00000540950 human ensembl 74_37 +1 known frame_shift_del c.1204 p.T404fs 0.819 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_DUF3669_Znf,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors ZNF398 HGNC ENSG00000197024 207 0 0 186 53 22.1757 ZNF282 0 genome.wustl.edu 37 7 148895829 148895829 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 148895829 148895829 G - DEL ZNF282 ENST00000262085 human ensembl 74_37 +1 known frame_shift_del c.570 p.E192fs 1.000 superfamily_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_DUF3669_Znf,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF282 HGNC ENSG00000170265 149 0 0 164 49 23.0047 SSPO 0 genome.wustl.edu 37 7 149508059 149508059 + RNA DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 149508059 149508059 C - DEL SSPO ENST00000378016 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SSPO HGNC ENSG00000197558 87 0 0 60 12 16.6667 NUB1 0 genome.wustl.edu 37 7 151046320 151046320 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 151046320 151046320 A - DEL NUB1 ENST00000568733 human ensembl 74_37 +1 known frame_shift_del c.351 p.D120fs 0.301 NULL pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors NUB1 HGNC ENSG00000013374 62 0 0 93 5 5.10204 NUB1 0 genome.wustl.edu 37 7 151064135 151064135 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 151064135 151064135 A - DEL NUB1 ENST00000568733 human ensembl 74_37 +1 known frame_shift_del c.983 p.K330fs 0.964 NULL pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors NUB1 HGNC ENSG00000013374 54 0 0 50 7 12.2807 NUDT1 0 genome.wustl.edu 37 7 2284328 2284330 + In_Frame_Del DEL AAG AAG - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 AAG AAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 2284328 2284330 AAG - DEL NUDT1 ENST00000343985 human ensembl 74_37 +1 known in_frame_del c.188_190 p.E64in_frame_del 0.993:0.976:0.968 pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,prints_Nudix_hydrolase pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,prints_OxG-triPHTase,prints_Nudix_hydrolase - no_errors NUDT1 HGNC ENSG00000106268 33 0 0 29 14 32.5581 CCDC126 0 genome.wustl.edu 37 7 23650855 23650855 + RNA DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 23650855 23650855 T - DEL CCDC126 ENST00000486109 human ensembl 74_37 +1 putative rna NULL NULL 0.020 - - - no_errors CCDC126 HGNC ENSG00000169193 34 0 0 16 9 36 EVX1-AS 0 genome.wustl.edu 37 7 27283201 27283202 + RNA DEL CT CT - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 27283201 27283202 CT - DEL EVX1-AS ENST00000519218 human ensembl 74_37 -1 known rna NULL NULL 0.018:0.028 - - - no_errors EVX1-AS HGNC ENSG00000253405 13 0 0 12 5 29.4118 CARD11 0 genome.wustl.edu 37 7 2968323 2968323 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 2968323 2968323 G - DEL CARD11 ENST00000396946 human ensembl 74_37 -1 known frame_shift_del c.1663 p.R555fs 0.080 NULL pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,superfamily_PDZ,pfscan_CARD - no_errors CARD11 HGNC ENSG00000198286 101 0 0 95 25 20.8333 DPY19L2P1 0 genome.wustl.edu 37 7 35130115 35130115 + RNA DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 35130115 35130115 A - DEL DPY19L2P1 ENST00000436258 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors DPY19L2P1 HGNC ENSG00000189212 22 0 0 11 4 26.6667 GLI3 0 genome.wustl.edu 37 7 42005573 42005573 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 42005573 42005573 G - DEL GLI3 ENST00000395925 human ensembl 74_37 -1 known frame_shift_del c.3098 p.P1033fs 0.131 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI3 HGNC ENSG00000106571 37 0 0 36 22 37.931 POLM 0 genome.wustl.edu 37 7 44120414 44120414 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 44120414 44120414 G - DEL POLM ENST00000242248 human ensembl 74_37 -1 known frame_shift_del c.290 p.P97fs 0.047 superfamily_BRCT_dom,pirsf_TdT/Mu,pfscan_BRCT_dom pfam_DNA_pol_lambd_fingers_domain,superfamily_DNA_pol_b-like_N,superfamily_DNA_pol_lambd_fingers_domain,superfamily_BRCT_dom,smart_DNA-dir_DNA_pol_X,pirsf_TdT/Mu,pfscan_BRCT_dom,prints_TdT/Mu,prints_DNA_pol_X,prints_DNA_pol_X_beta-like - no_errors POLM HGNC ENSG00000122678 133 0 0 147 38 20.5405 RADIL 0 genome.wustl.edu 37 7 4841484 4841484 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 4841484 4841484 G - DEL RADIL ENST00000399583 human ensembl 74_37 -1 known frame_shift_del c.2642 p.P881fs 0.001 NULL pfam_Dil_domain,pfam_Ras-assoc,pfam_PDZ,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc - no_errors RADIL HGNC ENSG00000157927 19 0 0 19 6 24 RADIL 0 genome.wustl.edu 37 7 4841575 4841575 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 4841575 4841575 G - DEL RADIL ENST00000399583 human ensembl 74_37 -1 known frame_shift_del c.2551 p.L851fs 0.000 NULL pfam_Dil_domain,pfam_Ras-assoc,pfam_PDZ,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc - no_errors RADIL HGNC ENSG00000157927 14 0 0 19 5 20.8333 FIGNL1 0 genome.wustl.edu 37 7 50514009 50514009 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 50514009 50514009 T - DEL FIGNL1 ENST00000356889 human ensembl 74_37 -1 known frame_shift_del c.977 p.K326fs 1.000 NULL pfam_ATPase_AAA_core,pfam_Vps4_C,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors FIGNL1 HGNC ENSG00000132436 83 0 0 63 11 14.8649 ZDHHC4 0 genome.wustl.edu 37 7 6621849 6621849 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 6621849 6621849 T - DEL ZDHHC4 ENST00000335965 human ensembl 74_37 +1 known frame_shift_del c.337 p.F115fs 0.001 NULL pfam_Znf_DHHC_palmitoyltrfase,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC4 HGNC ENSG00000136247 230 1 0.4329 152 34 18.2796 PRKAR1B 0 genome.wustl.edu 37 7 720281 720281 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 720281 720281 G - DEL PRKAR1B ENST00000360274 human ensembl 74_37 -1 known frame_shift_del c.260 p.P87fs 0.998 pirsf_cAMP_dep_PK_reg_su pfam_cNMP-bd_dom,pfam_cAMP_dep_PK_reg_su_I/II_a/b,superfamily_cNMP-bd-like,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,smart_cAMP_dep_PK_reg_su_I/II_a/b,smart_cNMP-bd_dom,pirsf_cAMP_dep_PK_reg_su,pfscan_cNMP-bd_dom,prints_cAMP/cGMP_kin - no_errors PRKAR1B HGNC ENSG00000188191 85 0 0 105 33 23.913 ELN 0 genome.wustl.edu 37 7 73461040 73461040 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 73461040 73461040 G - DEL ELN ENST00000358929 human ensembl 74_37 +1 known frame_shift_del c.586 p.G197fs 0.996 NULL prints_Tropoelastin - no_errors ELN HGNC ENSG00000049540 71 0 0 72 24 25 RHBDD2 0 genome.wustl.edu 37 7 75512837 75512837 + RNA DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 75512837 75512837 A - DEL RHBDD2 ENST00000467406 human ensembl 74_37 +1 putative rna NULL NULL 0.010 - - - no_errors RHBDD2 HGNC ENSG00000005486 12 0 0 4 12 75 TMEM60 0 genome.wustl.edu 37 7 77423301 77423301 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 77423301 77423301 A - DEL TMEM60 ENST00000257663 human ensembl 74_37 -1 known frame_shift_del c.390 p.F130fs 0.996 NULL pfam_TM_Fragile-X-F-assoc - no_errors TMEM60 HGNC ENSG00000135211 74 0 0 74 21 22.1053 ICA1 0 genome.wustl.edu 37 7 8198251 8198251 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 8198251 8198251 T - DEL ICA1 ENST00000422063 human ensembl 74_37 -1 known frame_shift_del c.611 p.N204fs 1.000 pfam_AH_dom,pfscan_AH_dom pfam_AH_dom,pfam_Islet_autoAg_Ica1_C,pfscan_AH_dom - no_errors ICA1 HGNC ENSG00000003147 71 0 0 43 15 25.8621 PCLO 0 genome.wustl.edu 37 7 82595608 82595608 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 82595608 82595608 T - DEL PCLO ENST00000333891 human ensembl 74_37 -1 known frame_shift_del c.3496 p.T1166fs 0.000 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 65 0 0 52 16 23.5294 RUNDC3B 0 genome.wustl.edu 37 7 87258157 87258157 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 87258157 87258157 G - DEL RUNDC3B ENST00000338056 human ensembl 74_37 +1 known frame_shift_del c.18 p.G8fs 1.000 NULL pfam_Run,smart_Run,pfscan_Run - no_errors RUNDC3B HGNC ENSG00000105784 9 0 0 17 5 22.7273 DBF4 0 genome.wustl.edu 37 7 87536669 87536670 + Frame_Shift_Ins INS - - A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 87536669 87536670 - A INS DBF4 ENST00000265728 human ensembl 74_37 +1 known frame_shift_ins c.1216_1217 p.L409fs 0.162:0.142 NULL pfam_Znf_DBF,superfamily_BRCT_dom,smart_Znf_DBF - no_errors DBF4 HGNC ENSG00000006634 89 0 0 91 28 23.5294 C7orf63 0 genome.wustl.edu 37 7 89929188 89929188 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 89929188 89929188 A - DEL C7orf63 ENST00000389297 human ensembl 74_37 +1 known frame_shift_del c.1865 p.K624fs 0.996 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors C7orf63 HGNC ENSG00000105792 29 0 0 23 4 14.8148 AKAP9 0 genome.wustl.edu 37 7 91603085 91603085 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 91603085 91603085 A - DEL AKAP9 ENST00000359028 human ensembl 74_37 +1 known frame_shift_del c.145 p.K51fs 1.000 NULL pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB - no_errors AKAP9 HGNC ENSG00000127914 49 0 0 57 14 19.7183 CASD1 0 genome.wustl.edu 37 7 94174999 94174999 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 94174999 94174999 A - DEL CASD1 ENST00000297273 human ensembl 74_37 +1 known frame_shift_del c.1619 p.A543fs 1.000 pfam_Cas1_AcylTrans_dom pfam_Cas1_AcylTrans_dom,superfamily_Cyclin-like - no_errors CASD1 HGNC ENSG00000127995 29 0 0 17 17 50 ZKSCAN1 0 genome.wustl.edu 37 7 99631140 99631140 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 99631140 99631140 A - DEL ZKSCAN1 ENST00000324306 human ensembl 74_37 +1 known frame_shift_del c.1012 p.T340fs 0.273 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZKSCAN1 HGNC ENSG00000106261 51 0 0 70 13 15.6627 COPS6 0 genome.wustl.edu 37 7 99688867 99688871 + Frame_Shift_Del DEL AACAC AACAC - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 AACAC AACAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 99688867 99688871 AACAC - DEL COPS6 ENST00000303904 human ensembl 74_37 +1 known frame_shift_del c.656_660 p.E219fs 1.000:1.000:1.000:1.000:1.000 NULL pfam_JAB_MPN_dom,smart_JAB_MPN_dom - no_errors COPS6 HGNC ENSG00000168090 310 0 0 358 59 14.1487 AP4M1 0 genome.wustl.edu 37 7 99704296 99704296 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 7 99704296 99704296 C - DEL AP4M1 ENST00000359593 human ensembl 74_37 +1 known frame_shift_del c.1153 p.P386fs 0.015 pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pirsf_Clathrin_mu,prints_Clathrin_mu,pfscan_Clathrin_mu_C - no_errors AP4M1 HGNC ENSG00000221838 129 0 0 93 30 24.3902 RGS22 0 genome.wustl.edu 37 8 100990178 100990178 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 8 100990178 100990178 T - DEL RGS22 ENST00000360863 human ensembl 74_37 -1 known frame_shift_del c.3486 p.K1162fs 0.010 NULL pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam - no_errors RGS22 HGNC ENSG00000132554 72 0 0 19 7 26.9231 DCAF13 0 genome.wustl.edu 37 8 104439487 104439487 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 8 104439487 104439487 T - DEL DCAF13 ENST00000519682 human ensembl 74_37 +1 putative frame_shift_del c.619 p.F209fs 0.001 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF13 HGNC ENSG00000164934 44 0 0 15 8 34.7826 RIMS2 0 genome.wustl.edu 37 8 104927779 104927779 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 8 104927779 104927779 A - DEL RIMS2 ENST00000406091 human ensembl 74_37 +1 known frame_shift_del c.1869 p.G626fs 0.009 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel - no_errors RIMS2 HGNC ENSG00000176406 75 0 0 31 8 20.5128 ENSG00000223697 0 genome.wustl.edu 37 8 133855257 133855257 + RNA DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 8 133855257 133855257 T - DEL ENSG00000223697 ENST00000608375 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AF230666.2 Clone_based_vega_gene ENSG00000223697 16 0 0 5 5 50 SLA 0 genome.wustl.edu 37 8 134063099 134063100 + Frame_Shift_Ins INS - - G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 8 134063099 134063100 - G INS SLA ENST00000427060 human ensembl 74_37 -1 known frame_shift_ins c.243_242 p.I82fs 0.056:0.999 superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_SH2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,pfscan_SH2,pfscan_SH3_domain,prints_SH2 - no_errors SLA HGNC ENSG00000155926 94 0 0 65 14 17.7215 PTK2 0 genome.wustl.edu 37 8 141754889 141754891 + RNA DEL AAA AAA - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 8 141754889 141754891 AAA - DEL PTK2 ENST00000518509 human ensembl 74_37 -1 known rna NULL NULL 0.003:0.004:0.005 - - - no_errors PTK2 HGNC ENSG00000169398 29 0 0 13 7 35 LYPD2 0 genome.wustl.edu 37 8 143832494 143832495 + Frame_Shift_Ins INS - - T TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 8 143832494 143832495 - T INS LYPD2 ENST00000359228 human ensembl 74_37 -1 known frame_shift_ins c.153_152 p.T52fs 0.999:1.000 pfam_LY6_UPAR,smart_LY6_UPA_recep-like pfam_LY6_UPAR,smart_LY6_UPA_recep-like - no_errors LYPD2 HGNC ENSG00000197353 155 0 0 133 59 30.7292 ENSG00000204791 0 genome.wustl.edu 37 8 145106384 145106384 + RNA DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 8 145106384 145106384 G - DEL ENSG00000204791 ENST00000528912 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors CTD-3065J16.6 Clone_based_vega_gene ENSG00000204791 21 0 0 26 4 13.3333 ENSG00000204791 0 genome.wustl.edu 37 8 145106391 145106392 + RNA INS - - C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 8 145106391 145106392 - C INS ENSG00000204791 ENST00000528912 human ensembl 74_37 +1 known rna NULL NULL 0.260:0.161 - - - no_errors CTD-3065J16.6 Clone_based_vega_gene ENSG00000204791 21 0 0 9 15 62.5 MICU3 0 genome.wustl.edu 37 8 16944491 16944491 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 8 16944491 16944491 A - DEL MICU3 ENST00000318063 human ensembl 74_37 +1 known frame_shift_del c.796 p.N268fs 1.000 NULL smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors MICU3 HGNC ENSG00000155970 33 0 0 15 6 28.5714 ARHGEF10 0 genome.wustl.edu 37 8 1871167 1871167 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 8 1871167 1871167 T - DEL ARHGEF10 ENST00000398564 human ensembl 74_37 +1 known frame_shift_del c.2256 p.L753fs 0.980 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF10 HGNC ENSG00000104728 102 0 0 24 11 31.4286 DMTN 0 genome.wustl.edu 37 8 21927823 21927823 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 8 21927823 21927823 C - DEL DMTN ENST00000265800 human ensembl 74_37 +1 known frame_shift_del c.582 p.P196fs 0.991 NULL pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin_headpiece,pfscan_Villin_headpiece - no_errors DMTN HGNC ENSG00000158856 85 0 0 51 26 33.7662 HR 0 genome.wustl.edu 37 8 21984903 21984903 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 8 21984903 21984903 C - DEL HR ENST00000381418 human ensembl 74_37 -1 known frame_shift_del c.1052 p.G351fs 0.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors HR HGNC ENSG00000168453 87 0 0 62 25 28.7356 BMP1 0 genome.wustl.edu 37 8 22054259 22054260 + Frame_Shift_Ins INS - - CC TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 8 22054259 22054260 - CC INS BMP1 ENST00000306385 human ensembl 74_37 +1 known frame_shift_ins c.1832_1833 p.N614fs 1.000:1.000 pirsf_BMP_1/tolloid-like,pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pirsf_BMP_1/tolloid-like,pfam_CUB_dom,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,smart_Peptidase_Metallo,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,prints_Peptidase_M12A,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors BMP1 HGNC ENSG00000168487 81 0 0 47 20 29.8507 BIN3 0 genome.wustl.edu 37 8 22487477 22487477 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 8 22487477 22487477 T - DEL BIN3 ENST00000276416 human ensembl 74_37 -1 known frame_shift_del c.338 p.K113fs 1.000 pfam_BAR_dom,pfam_Vps5_C,smart_BAR_dom,pfscan_BAR_dom pfam_BAR_dom,pfam_Vps5_C,smart_BAR_dom,pfscan_BAR_dom - no_errors BIN3 HGNC ENSG00000147439 21 0 0 10 6 37.5 ENTPD4 0 genome.wustl.edu 37 8 23292044 23292045 + RNA INS - - CA TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 8 23292044 23292045 - CA INS ENTPD4 ENST00000522913 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors ENTPD4 HGNC ENSG00000197217 31 0 0 26 6 18.75 ADAM28 0 genome.wustl.edu 37 8 24167472 24167473 + Frame_Shift_Ins INS - - A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 8 24167472 24167473 - A INS ADAM28 ENST00000265769 human ensembl 74_37 +1 known frame_shift_ins c.216_217 p.N74fs 1.000:1.000 pfam_Peptidase_M12B_N pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,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,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM28 HGNC ENSG00000042980 112 1 0.884956 44 18 29.0323 ADAMDEC1 0 genome.wustl.edu 37 8 24257686 24257686 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 8 24257686 24257686 A - DEL ADAMDEC1 ENST00000256412 human ensembl 74_37 +1 known frame_shift_del c.1015 p.K341fs 0.044 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B - no_errors ADAMDEC1 HGNC ENSG00000134028 20 0 0 11 5 31.25 TUBBP1 0 genome.wustl.edu 37 8 30209504 30209504 + RNA DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 8 30209504 30209504 A - DEL TUBBP1 ENST00000518096 human ensembl 74_37 +1 known rna NULL NULL 0.026 - - - no_errors TUBBP1 HGNC ENSG00000127589 52 0 0 44 21 32.3077 GOT1L1 0 genome.wustl.edu 37 8 37791834 37791834 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 8 37791834 37791834 T - DEL GOT1L1 ENST00000307599 human ensembl 74_37 -1 known frame_shift_del c.1243 p.T415fs 0.000 NULL pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase,prints_Asp_trans - no_errors GOT1L1 HGNC ENSG00000169154 104 0 0 43 35 44.8718 FBXO25 0 genome.wustl.edu 37 8 381399 381399 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 8 381399 381399 A - DEL FBXO25 ENST00000276326 human ensembl 74_37 +1 known frame_shift_del c.193 p.R67fs 1.000 NULL superfamily_F-box_dom - no_errors FBXO25 HGNC ENSG00000147364 99 0 0 49 14 22.2222 SOX17 0 genome.wustl.edu 37 8 55372287 55372288 + Frame_Shift_Ins INS - - C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 8 55372287 55372288 - C INS SOX17 ENST00000297316 human ensembl 74_37 +1 known frame_shift_ins c.977_978 p.G330fs 0.999:0.981 pfam_Sox_C_TAD pfam_Sox_C_TAD,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX17 HGNC ENSG00000164736 11 0 0 9 5 35.7143 SDCBP 0 genome.wustl.edu 37 8 59477589 59477589 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 8 59477589 59477589 A - DEL SDCBP ENST00000523483 human ensembl 74_37 +1 putative frame_shift_del c.60 p.M22fs 1.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SDCBP HGNC ENSG00000137575 47 0 0 15 4 21.0526 ANGPT2 0 genome.wustl.edu 37 8 6378798 6378798 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 8 6378798 6378798 T - DEL ANGPT2 ENST00000325203 human ensembl 74_37 -1 known frame_shift_del c.700 p.I234fs 0.004 NULL pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors ANGPT2 HGNC ENSG00000091879 105 0 0 29 14 32.5581 RRS1 0 genome.wustl.edu 37 8 67341501 67341501 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 8 67341501 67341501 C - DEL RRS1 ENST00000320270 human ensembl 74_37 +1 known frame_shift_del c.135 p.P47fs 1.000 pfam_Ribosom_reg pfam_Ribosom_reg - no_errors RRS1 HGNC ENSG00000179041 14 0 0 12 4 25 ARFGEF1 0 genome.wustl.edu 37 8 68128856 68128856 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 8 68128856 68128856 G - DEL ARFGEF1 ENST00000262215 human ensembl 74_37 -1 known frame_shift_del c.4655 p.P1552fs 0.000 NULL pfam_Sec7_dom,pfam_DUF1981_Sec7_assoc,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom - no_errors ARFGEF1 HGNC ENSG00000066777 85 0 0 42 18 30 SLCO5A1 0 genome.wustl.edu 37 8 70744246 70744246 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 8 70744246 70744246 G - DEL SLCO5A1 ENST00000260126 human ensembl 74_37 -1 known frame_shift_del c.663 p.Y222fs 0.127 pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO5A1 HGNC ENSG00000137571 57 0 0 32 15 31.9149 SLC10A5 0 genome.wustl.edu 37 8 82606649 82606650 + Frame_Shift_Ins INS - - A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 8 82606649 82606650 - A INS SLC10A5 ENST00000518568 human ensembl 74_37 -1 known frame_shift_ins c.559_558 p.L186fs 1.000:1.000 pfam_BilAc/Na_symport pfam_BilAc/Na_symport - no_errors SLC10A5 HGNC ENSG00000253598 119 0 0 60 30 33.3333 SLC26A7 0 genome.wustl.edu 37 8 92407491 92407491 + RNA DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 8 92407491 92407491 T - DEL SLC26A7 ENST00000520249 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SLC26A7 HGNC ENSG00000147606 29 0 0 11 5 31.25 SNORA72 0 genome.wustl.edu 37 8 99054837 99054837 + RNA DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 8 99054837 99054837 A - DEL SNORA72 ENST00000501016 human ensembl 74_37 +1 known rna NULL NULL 0.049 - - - no_errors KB-1208A12.3 Clone_based_vega_gene ENSG00000245970 74 0 0 20 26 56.5217 ABCA1 0 genome.wustl.edu 37 9 107588115 107588115 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 107588115 107588115 A - DEL ABCA1 ENST00000374736 human ensembl 74_37 -1 known frame_shift_del c.2391 p.F797fs 0.973 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA1 HGNC ENSG00000165029 105 0 0 112 12 9.67742 OR2K2 0 genome.wustl.edu 37 9 114089909 114089909 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 114089909 114089909 T - DEL OR2K2 ENST00000374428 human ensembl 74_37 -1 known frame_shift_del c.892 p.I298fs 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2K2 HGNC ENSG00000171133 98 0 0 40 16 28.5714 ASTN2 0 genome.wustl.edu 37 9 119495717 119495717 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 119495717 119495717 C - DEL ASTN2 ENST00000313400 human ensembl 74_37 -1 known frame_shift_del c.2482 p.V828fs 1.000 NULL pfam_MACPF,superfamily_Fibronectin_type3,smart_MACPF - no_errors ASTN2 HGNC ENSG00000148219 167 1 0.595238 121 34 21.9355 GAPVD1 0 genome.wustl.edu 37 9 128064303 128064303 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 128064303 128064303 T - DEL GAPVD1 ENST00000394105 human ensembl 74_37 +1 known frame_shift_del c.227 p.L77fs 1.000 NULL pfam_RasGAP,pfam_VPS9,superfamily_Rho_GTPase_activation_prot,smart_VPS9_subgr,pfscan_VPS9,pfscan_RasGAP - no_errors GAPVD1 HGNC ENSG00000165219 108 0 0 48 24 33.3333 TOR2A 0 genome.wustl.edu 37 9 130496603 130496604 + Frame_Shift_Ins INS - - G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 130496603 130496604 - G INS TOR2A ENST00000373284 human ensembl 74_37 -1 known frame_shift_ins c.392_391 p.H131fs 0.185:0.198 pirsf_Torsin_subgr,pfam_Torsin,superfamily_P-loop_NTPase,smart_AAA+_ATPase pirsf_Torsin_subgr,pfam_Torsin,superfamily_P-loop_NTPase,smart_AAA+_ATPase,prints_ClpA/B - no_errors TOR2A HGNC ENSG00000160404 52 0 0 34 15 30.6122 TRUB2 0 genome.wustl.edu 37 9 131073317 131073317 + RNA DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 131073317 131073317 G - DEL TRUB2 ENST00000461180 human ensembl 74_37 -1 known rna NULL NULL 0.006 - - - no_errors TRUB2 HGNC ENSG00000167112 148 0 0 88 10 10.2041 ENSG00000236986 0 genome.wustl.edu 37 9 134008392 134008392 + RNA DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 134008392 134008392 T - DEL ENSG00000236986 ENST00000587264 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors RP11-544A12.4 Clone_based_vega_gene ENSG00000236986 35 0 0 12 10 45.4545 NUP214 0 genome.wustl.edu 37 9 134073007 134073008 + Frame_Shift_Ins INS - - CC TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 134073007 134073008 - CC INS NUP214 ENST00000451030 human ensembl 74_37 +1 known frame_shift_ins c.4129_4130 p.V1380fs 0.000:0.000 NULL smart_WD40_repeat - no_errors NUP214 HGNC ENSG00000126883 126 0 0 99 34 25.5639 TTF1 0 genome.wustl.edu 37 9 135277373 135277373 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 135277373 135277373 T - DEL TTF1 ENST00000334270 human ensembl 74_37 -1 known frame_shift_del c.836 p.K279fs 0.003 NULL superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors TTF1 HGNC ENSG00000125482 143 0 0 83 31 27.193 GTF3C4 0 genome.wustl.edu 37 9 135554691 135554691 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 135554691 135554691 A - DEL GTF3C4 ENST00000372146 human ensembl 74_37 +1 known frame_shift_del c.1685 p.K564fs 1.000 NULL superfamily_WD40_repeat_dom - no_errors GTF3C4 HGNC ENSG00000125484 155 0 0 92 29 23.9669 RPL7A 0 genome.wustl.edu 37 9 136216817 136216819 + In_Frame_Del DEL GAG GAG - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 136216817 136216819 GAG - DEL RPL7A ENST00000323345 human ensembl 74_37 +1 known in_frame_del c.325_327 p.E109in_frame_del 1.000:1.000:1.000 prints_Ribosomal_L7A/L8 pfam_Ribosomal_L7Ae/L30e/S12e/Gad45,prints_Ribosomal_L7A/L8,prints_Ribosomal_L7Ae/L8/Nhp2 - no_errors RPL7A HGNC ENSG00000148303 82 0 0 47 29 38.1579 LINC00094 0 genome.wustl.edu 37 9 136899776 136899776 + RNA DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 136899776 136899776 C - DEL LINC00094 ENST00000605164 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors LINC00094 HGNC ENSG00000235106 43 0 0 36 12 25 RXRA 0 genome.wustl.edu 37 9 137300039 137300040 + Frame_Shift_Ins INS - - C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 137300039 137300040 - C INS RXRA ENST00000481739 human ensembl 74_37 +1 known frame_shift_ins c.324_325 p.L110fs 1.000:1.000 pfam_Nuc_recep-AF1 pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Nuc_recep-AF1,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoid-X_rcpt/HNF4,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_COUP_TF,prints_Retinoic_acid_rcpt - no_errors RXRA HGNC ENSG00000186350 52 0 0 30 9 23.0769 PPP1R26 0 genome.wustl.edu 37 9 138378661 138378661 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 138378661 138378661 C - DEL PPP1R26 ENST00000356818 human ensembl 74_37 +1 known frame_shift_del c.2305 p.S771fs 0.000 NULL NULL - no_errors PPP1R26 HGNC ENSG00000196422 30 0 0 19 13 40.625 LHX3 0 genome.wustl.edu 37 9 139090598 139090598 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 139090598 139090598 C - DEL LHX3 ENST00000371746 human ensembl 74_37 -1 known frame_shift_del c.690 p.Q231fs 0.110 superfamily_Homeodomain-like pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom - no_errors LHX3 HGNC ENSG00000107187 54 0 0 27 16 37.2093 SEC16A 0 genome.wustl.edu 37 9 139370379 139370379 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 139370379 139370379 A - DEL SEC16A ENST00000313050 human ensembl 74_37 -1 known frame_shift_del c.1689 p.F563fs 1.000 NULL NULL - no_errors SEC16A HGNC ENSG00000148396 35 0 0 19 10 34.4828 PNPLA7 0 genome.wustl.edu 37 9 140356679 140356679 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 140356679 140356679 G - DEL PNPLA7 ENST00000406427 human ensembl 74_37 -1 known frame_shift_del c.3597 p.I1200fs 1.000 superfamily_Acyl_Trfase/lysoPLipase pfam_cNMP-bd_dom,pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors PNPLA7 HGNC ENSG00000130653 83 0 0 60 19 24.0506 CNTLN 0 genome.wustl.edu 37 9 17484353 17484353 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 17484353 17484353 A - DEL CNTLN ENST00000380647 human ensembl 74_37 +1 known frame_shift_del c.3916 p.M1308fs 0.999 NULL superfamily_Prefoldin - no_errors CNTLN HGNC ENSG00000044459 134 0 0 97 49 33.5616 ADAMTSL1 0 genome.wustl.edu 37 9 18680350 18680350 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 18680350 18680350 G - DEL ADAMTSL1 ENST00000327883 human ensembl 74_37 +1 known frame_shift_del c.1177 p.G395fs 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,pfam_ADAM_spacer1,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_Thrombospondin_1_rpt - no_errors ADAMTSL1 HGNC ENSG00000178031 68 0 0 45 13 22.4138 MLLT3 0 genome.wustl.edu 37 9 20622295 20622295 + RNA DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 20622295 20622295 C - DEL MLLT3 ENST00000475957 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors MLLT3 HGNC ENSG00000171843 16 0 0 10 13 56.5217 TOPORS 0 genome.wustl.edu 37 9 32542262 32542262 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 32542262 32542262 T - DEL TOPORS ENST00000360538 human ensembl 74_37 -1 known frame_shift_del c.2261 p.N754fs 0.794 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors TOPORS HGNC ENSG00000197579 154 1 0.645161 62 36 36.7347 PIGO 0 genome.wustl.edu 37 9 35091415 35091416 + Frame_Shift_Del DEL CA CA - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 35091415 35091416 CA - DEL PIGO ENST00000341666 human ensembl 74_37 -1 known frame_shift_del c.2469_2468 p.V823fs 1.000:1.000 NULL pfam_Phosphodiest/P_Trfase,pfam_Metalloenzyme,pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors PIGO HGNC ENSG00000165282 61 0 0 37 23 38.3333 FAM214B 0 genome.wustl.edu 37 9 35108148 35108148 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 35108148 35108148 C - DEL FAM214B ENST00000322813 human ensembl 74_37 -1 known frame_shift_del c.124 p.A42fs 0.584 NULL NULL - no_errors FAM214B HGNC ENSG00000005238 26 0 0 17 11 39.2857 ATP8B5P 0 genome.wustl.edu 37 9 35450411 35450411 + RNA DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 35450411 35450411 T - DEL ATP8B5P ENST00000430846 human ensembl 74_37 +1 known rna NULL NULL 0.812 - - - no_errors ATP8B5P HGNC ENSG00000179766 10 0 0 4 3 42.8571 TESK1 0 genome.wustl.edu 37 9 35606842 35606843 + Frame_Shift_Ins INS - - G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 35606842 35606843 - G INS TESK1 ENST00000336395 human ensembl 74_37 +1 known frame_shift_ins c.399_400 p.T135fs 1.000:1.000 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,prints_Ser-Thr/Tyr_kinase_cat_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,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TESK1 HGNC ENSG00000107140 79 0 0 65 18 21.6867 GBA2 0 genome.wustl.edu 37 9 35741459 35741459 + RNA DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 35741459 35741459 T - DEL GBA2 ENST00000485259 human ensembl 74_37 -1 known rna NULL NULL 0.125 - - - no_errors GBA2 HGNC ENSG00000070610 9 0 0 3 5 62.5 RECK 0 genome.wustl.edu 37 9 36112461 36112461 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 36112461 36112461 A - DEL RECK ENST00000377966 human ensembl 74_37 +1 known frame_shift_del c.2048 p.N685fs 0.002 NULL pfam_Kazal_dom,superfamily_Prot_inh_PMP,smart_Kazal_dom - no_errors RECK HGNC ENSG00000122707 54 0 0 46 12 20.6897 RNF38 0 genome.wustl.edu 37 9 36353240 36353240 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 36353240 36353240 G - DEL RNF38 ENST00000259605 human ensembl 74_37 -1 known frame_shift_del c.998 p.P333fs 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF38 HGNC ENSG00000137075 84 0 0 48 16 25 KIAA2026 0 genome.wustl.edu 37 9 5968162 5968162 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 5968162 5968162 T - DEL KIAA2026 ENST00000399933 human ensembl 74_37 -1 novel frame_shift_del c.2069 p.K690fs 1.000 NULL superfamily_Bromodomain - no_errors KIAA2026 HGNC ENSG00000183354 18 0 0 8 7 46.6667 TMEM2 0 genome.wustl.edu 37 9 74347430 74347430 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 74347430 74347430 G - DEL TMEM2 ENST00000377044 human ensembl 74_37 -1 known frame_shift_del c.1400 p.P467fs 1.000 superfamily_Pectin_lyase_fold/virulence pfam_G8_domain,superfamily_Pectin_lyase_fold/virulence - no_errors TMEM2 HGNC ENSG00000135048 72 0 0 28 12 30 ZNF484 0 genome.wustl.edu 37 9 95609940 95609940 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 95609940 95609940 T - DEL ZNF484 ENST00000395506 human ensembl 74_37 -1 known frame_shift_del c.1135 p.I379fs 0.002 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 ZNF484 HGNC ENSG00000127081 70 0 0 39 6 13.3333 PHF2 0 genome.wustl.edu 37 9 96422612 96422612 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 9 96422612 96422612 A - DEL PHF2 ENST00000359246 human ensembl 74_37 +1 known frame_shift_del c.1468 p.K492fs 1.000 NULL pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger - no_errors PHF2 HGNC ENSG00000197724 22 0 0 12 2 14.2857 GPRASP2 0 genome.wustl.edu 37 X 101970978 101970978 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 101970978 101970978 A - DEL GPRASP2 ENST00000332262 human ensembl 74_37 +1 known frame_shift_del c.1181 p.E396fs 0.990 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold - no_errors GPRASP2 HGNC ENSG00000158301 131 0 0 76 43 36.1345 NRK 0 genome.wustl.edu 37 X 105150563 105150564 + Frame_Shift_Ins INS - - A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 105150563 105150564 - A INS NRK ENST00000428173 human ensembl 74_37 +1 known frame_shift_ins c.1002_1003 p.R336fs 0.964:0.999 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Citron,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom - no_errors NRK HGNC ENSG00000123572 14 0 0 9 4 30.7692 CLDN2 0 genome.wustl.edu 37 X 106171828 106171828 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 106171828 106171828 T - DEL CLDN2 ENST00000336803 human ensembl 74_37 +1 known frame_shift_del c.370 p.F125fs 0.942 pfam_PMP22/EMP/MP20/Claudin,prints_Claudin pfam_PMP22/EMP/MP20/Claudin,prints_Claudin2,prints_Claudin,prints_Claudin14 - no_errors CLDN2 HGNC ENSG00000165376 181 0 0 60 24 28.5714 GUCY2F 0 genome.wustl.edu 37 X 108708521 108708521 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 108708521 108708521 G - DEL GUCY2F ENST00000218006 human ensembl 74_37 -1 known frame_shift_del c.882 p.Y295fs 0.930 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Haem_no_assoc-bd,superfamily_Peripla_BP_I,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase - no_errors GUCY2F HGNC ENSG00000101890 243 0 0 85 62 42.1769 AMMECR1 0 genome.wustl.edu 37 X 109561079 109561080 + Frame_Shift_Ins INS - - G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 109561079 109561080 - G INS AMMECR1 ENST00000262844 human ensembl 74_37 -1 known frame_shift_ins c.221_220 p.Q74fs 0.998:0.997 NULL pfam_AMMECR1_domain,superfamily_AMMECR1_domain,pfscan_AMMECR1_domain,tigrfam_AMMECR1 - no_errors AMMECR1 HGNC ENSG00000101935 20 0 0 9 2 18.1818 MIR4329 0 genome.wustl.edu 37 X 112023978 112023978 + RNA DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 112023978 112023978 A - DEL MIR4329 ENST00000582643 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors MIR4329 HGNC ENSG00000263351 15 0 0 9 6 40 MIR1277 0 genome.wustl.edu 37 X 117520366 117520367 + RNA DEL AT AT - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 AT AT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 117520366 117520367 AT - DEL MIR1277 ENST00000408536 human ensembl 74_37 +1 known rna NULL NULL 0.986:0.997 - - - no_errors MIR1277 HGNC ENSG00000221463 87 0 0 29 17 36.9565 DOCK11 0 genome.wustl.edu 37 X 117732047 117732047 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 117732047 117732047 A - DEL DOCK11 ENST00000276202 human ensembl 74_37 +1 known frame_shift_del c.2440 p.S815fs 0.999 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK11 HGNC ENSG00000147251 162 0 0 56 15 21.1268 SEPT6 0 genome.wustl.edu 37 X 118753946 118753947 + RNA INS - - G TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 118753946 118753947 - G INS SEPT6 ENST00000467310 human ensembl 74_37 -1 known rna NULL NULL 0.999:0.994 - - - no_errors SEPT6 HGNC ENSG00000125354 25 0 0 24 19 44.186 LAMP2 0 genome.wustl.edu 37 X 119575705 119575705 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 119575705 119575705 G - DEL LAMP2 ENST00000434600 human ensembl 74_37 -1 known frame_shift_del c.973 p.L325fs 0.006 pfam_Lysosome-assoc_membr_glycop,prints_Lysosome-assoc_membr_glycop pfam_Lysosome-assoc_membr_glycop,prints_Lysosome-assoc_membr_glycop - no_errors LAMP2 HGNC ENSG00000005893 113 0 0 66 11 14.2857 BCORL1 0 genome.wustl.edu 37 X 129190010 129190011 + Frame_Shift_Ins INS - - C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 129190010 129190011 - C INS BCORL1 ENST00000303743 human ensembl 74_37 +1 known frame_shift_ins c.5257_5258 p.G1756fs 0.001:0.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors BCORL1 HGNC ENSG00000085185 126 0 0 81 22 21.3592 DDX26B 0 genome.wustl.edu 37 X 134680317 134680317 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 134680317 134680317 T - DEL DDX26B ENST00000370752 human ensembl 74_37 +1 known frame_shift_del c.352 p.L120fs 1.000 pfscan_VWF_A pfscan_VWF_A - no_errors DDX26B HGNC ENSG00000165359 61 0 0 15 5 25 CD99L2 0 genome.wustl.edu 37 X 149937447 149937447 + RNA DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 149937447 149937447 G - DEL CD99L2 ENST00000346693 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CD99L2 HGNC ENSG00000102181 89 0 0 77 17 18.0851 HMGB3 0 genome.wustl.edu 37 X 150156357 150156358 + In_Frame_Ins INS - - GAG TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 150156357 150156358 - GAG INS HMGB3 ENST00000325307 human ensembl 74_37 +1 known in_frame_ins c.573_574 p.195in_frame_insE 0.023:0.987 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors HMGB3 HGNC ENSG00000029993 97 0 0 47 8 14.5455 GPR50 0 genome.wustl.edu 37 X 150345219 150345219 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 150345219 150345219 C - DEL GPR50 ENST00000218316 human ensembl 74_37 +1 known frame_shift_del c.26 p.Y11fs 0.085 prints_Mel_rcpt_1X pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Mel_rcpt_1X,prints_GPCR_Rhodpsn,prints_Melatonin_rcpt,prints_NPY_rcpt - no_errors GPR50 HGNC ENSG00000102195 169 0 0 115 37 24.3421 ASMTL 0 genome.wustl.edu 37 X 1522202 1522202 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 1522202 1522202 C - DEL ASMTL ENST00000381317 human ensembl 74_37 -1 known frame_shift_del c.1826 p.G609fs 0.003 NULL pfam_Maf,pfam_O_MeTrfase_2,tigrfam_Maf - no_errors ASMTL HGNC ENSG00000169093 84 0 0 43 14 24.5614 SRPK3 0 genome.wustl.edu 37 X 153050207 153050208 + Frame_Shift_Ins INS - - A TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 153050207 153050208 - A INS SRPK3 ENST00000370101 human ensembl 74_37 +1 known frame_shift_ins c.1251_1252 p.H418fs 1.000:1.000 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_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,pfscan_Prot_kinase_dom - no_errors SRPK3 HGNC ENSG00000184343 112 0 0 90 43 32.3308 AVPR2 0 genome.wustl.edu 37 X 153171693 153171693 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 153171693 153171693 G - DEL AVPR2 ENST00000337474 human ensembl 74_37 +1 known frame_shift_del c.733 p.R247fs 0.003 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Vprsn_rcpt_V2 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Vprsn_rcpt_V2,prints_Vasoprsn_rcpt,prints_GPCR_Rhodpsn - no_errors AVPR2 HGNC ENSG00000126895 105 0 0 47 32 40.5063 FLNA 0 genome.wustl.edu 37 X 153594579 153594580 + Frame_Shift_Ins INS - - C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 153594579 153594580 - C INS FLNA ENST00000369850 human ensembl 74_37 -1 known frame_shift_ins c.1242_1241 p.E415fs 0.005:0.994 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNA HGNC ENSG00000196924 124 0 0 89 27 23.2759 FIGF 0 genome.wustl.edu 37 X 15364159 15364159 + RNA DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 15364159 15364159 T - DEL FIGF ENST00000488351 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors FIGF HGNC ENSG00000165197 80 0 0 52 31 37.3494 PLXNA3 0 genome.wustl.edu 37 X 153688565 153688565 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 153688565 153688565 G - DEL PLXNA3 ENST00000369682 human ensembl 74_37 +1 known frame_shift_del c.42 p.A17fs 0.006 pfscan_Semap_dom pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA3 HGNC ENSG00000130827 122 1 0.813008 59 20 25.3165 DKC1 0 genome.wustl.edu 37 X 153994771 153994771 + RNA DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 153994771 153994771 A - DEL DKC1 ENST00000473552 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors DKC1 HGNC ENSG00000130826 14 0 0 6 8 57.1429 ACE2 0 genome.wustl.edu 37 X 15584646 15584646 + RNA DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 15584646 15584646 A - DEL ACE2 ENST00000473851 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ACE2 HGNC ENSG00000130234 52 0 0 51 11 17.7419 CTPS2 0 genome.wustl.edu 37 X 16609020 16609021 + RNA DEL AA AA - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 16609020 16609021 AA - DEL CTPS2 ENST00000483053 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors CTPS2 HGNC ENSG00000047230 70 0 0 17 23 57.5 REPS2 0 genome.wustl.edu 37 X 17165605 17165605 + RNA DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 17165605 17165605 C - DEL REPS2 ENST00000469714 human ensembl 74_37 +1 known rna NULL NULL 0.910 - - - no_errors REPS2 HGNC ENSG00000169891 245 0 0 125 64 33.8624 SH3KBP1 0 genome.wustl.edu 37 X 19560215 19560215 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 19560215 19560215 G - DEL SH3KBP1 ENST00000397821 human ensembl 74_37 -1 known frame_shift_del c.1720 p.L574fs 0.002 NULL pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_p67phox,prints_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SH3KBP1 HGNC ENSG00000147010 89 0 0 78 24 23.5294 FAM47C 0 genome.wustl.edu 37 X 37028265 37028265 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 37028265 37028265 C - DEL FAM47C ENST00000358047 human ensembl 74_37 +1 known frame_shift_del c.1782 p.P596fs 0.005 NULL NULL - no_errors FAM47C HGNC ENSG00000198173 254 0 0 168 33 16.4179 MED14 0 genome.wustl.edu 37 X 40588606 40588607 + RNA DEL AA AA - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 40588606 40588607 AA - DEL MED14 ENST00000463072 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors MED14 HGNC ENSG00000180182 53 0 0 18 15 45.4545 SLC9A7 0 genome.wustl.edu 37 X 46529070 46529070 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 46529070 46529070 A - DEL SLC9A7 ENST00000328306 human ensembl 74_37 -1 known frame_shift_del c.765 p.F255fs 1.000 pfam_Cation/H_exchanger,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_Na/H_exchanger_6,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A7 HGNC ENSG00000065923 76 0 0 33 12 26.6667 ARAF 0 genome.wustl.edu 37 X 47426415 47426415 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 47426415 47426415 C - DEL ARAF ENST00000377045 human ensembl 74_37 +1 known frame_shift_del c.758 p.R255fs 0.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd - no_errors ARAF HGNC ENSG00000078061 67 0 0 33 17 34 WDR13 0 genome.wustl.edu 37 X 48457035 48457036 + RNA DEL CC CC - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 CC CC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 48457035 48457036 CC - DEL WDR13 ENST00000479279 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors WDR13 HGNC ENSG00000101940 18 0 0 21 8 27.5862 WDR13 0 genome.wustl.edu 37 X 48457490 48457491 + RNA DEL AC AC - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 AC AC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 48457490 48457491 AC - DEL WDR13 ENST00000492715 human ensembl 74_37 +1 known rna NULL NULL 0.001:0.000 - - - no_errors WDR13 HGNC ENSG00000101940 10 0 0 7 4 36.3636 VSIG4 0 genome.wustl.edu 37 X 65253607 65253607 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 65253607 65253607 A - DEL VSIG4 ENST00000374737 human ensembl 74_37 -1 known frame_shift_del c.121 p.C41fs 0.866 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors VSIG4 HGNC ENSG00000155659 126 0 0 84 17 16.8317 HEPH 0 genome.wustl.edu 37 X 65409636 65409636 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 65409636 65409636 T - DEL HEPH ENST00000519389 human ensembl 74_37 +1 known frame_shift_del c.1081 p.F362fs 1.000 superfamily_Cupredoxin pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Cupredoxin - no_errors HEPH HGNC ENSG00000089472 79 0 0 44 27 38.0282 PJA1 0 genome.wustl.edu 37 X 68382257 68382257 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 68382257 68382257 A - DEL PJA1 ENST00000361478 human ensembl 74_37 -1 known frame_shift_del c.825 p.F275fs 0.996 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors PJA1 HGNC ENSG00000181191 130 1 0.763359 56 26 31.7073 FAM155B 0 genome.wustl.edu 37 X 68725612 68725613 + Frame_Shift_Ins INS - - C TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 68725612 68725613 - C INS FAM155B ENST00000252338 human ensembl 74_37 +1 known frame_shift_ins c.487_488 p.L166fs 0.069:0.029 NULL NULL - no_errors FAM155B HGNC ENSG00000130054 68 0 0 51 26 33.7662 P2RY4 0 genome.wustl.edu 37 X 69478418 69478418 + Frame_Shift_Del DEL G G - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 69478418 69478418 G - DEL P2RY4 ENST00000374519 human ensembl 74_37 -1 known frame_shift_del c.1057 p.Q353fs 0.000 prints_P2Y4_rcpt,prints_P2Y2_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_P2Y4_rcpt,prints_GPCR_Rhodpsn,prints_P2Y2_rcpt - no_errors P2RY4 HGNC ENSG00000186912 129 0 0 82 10 10.8696 IL2RG 0 genome.wustl.edu 37 X 70330449 70330449 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 70330449 70330449 T - DEL IL2RG ENST00000374202 human ensembl 74_37 -1 known frame_shift_del c.359 p.K120fs 0.000 pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3 pfam_IL-6_rcpt_alpha-bd,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL2RG HGNC ENSG00000147168 108 0 0 53 19 26.3889 ZMYM3 0 genome.wustl.edu 37 X 70472854 70472854 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 70472854 70472854 C - DEL ZMYM3 ENST00000373988 human ensembl 74_37 -1 known frame_shift_del c.252 p.L85fs 1.000 NULL pfam_Znf_MYM,pfam_DUF3504,smart_TRASH_dom - no_errors ZMYM3 HGNC ENSG00000147130 61 0 0 36 13 26.5306 TAF1 0 genome.wustl.edu 37 X 70603000 70603000 + Frame_Shift_Del DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 70603000 70603000 A - DEL TAF1 ENST00000449580 human ensembl 74_37 +1 known frame_shift_del c.1930 p.K646fs 1.000 pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591 pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1 HGNC ENSG00000147133 63 0 0 41 14 25.4545 XIST 0 genome.wustl.edu 37 X 73071762 73071762 + RNA DEL A A - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 73071762 73071762 A - DEL XIST ENST00000429829 human ensembl 74_37 -1 known rna NULL NULL 0.649 - - - no_errors XIST HGNC ENSG00000229807 108 1 0.917431 57 34 37.3626 CYSLTR1 0 genome.wustl.edu 37 X 77528573 77528573 + Frame_Shift_Del DEL T T - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 77528573 77528573 T - DEL CYSLTR1 ENST00000373304 human ensembl 74_37 -1 known frame_shift_del c.671 p.N224fs 0.947 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srv,prints_CLT1_recept,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srv,prints_Cyst_leuk_rcpt,prints_CLT1_recept,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors CYSLTR1 HGNC ENSG00000173198 74 0 0 29 14 32.5581 HMGN5 0 genome.wustl.edu 37 X 80377176 80377177 + RNA DEL AA AA - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 80377176 80377177 AA - DEL HMGN5 ENST00000491275 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors HMGN5 HGNC ENSG00000198157 16 0 0 3 8 72.7273 POU3F4 0 genome.wustl.edu 37 X 82763837 82763837 + Frame_Shift_Del DEL C C - TCGA-BR-8487-01A-11D-2394-08 TCGA-BR-8487-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e5646c1a-3759-4bcb-8c91-1198d88b3544 cc00b160-fcfd-4ea2-9f61-a4aa9bc5b8c0 X 82763837 82763837 C - DEL POU3F4 ENST00000373200 human ensembl 74_37 +1 known frame_shift_del c.505 p.P170fs 0.862 pirsf_Transcription_factor_POU pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pirsf_Transcription_factor_POU,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU3F4 HGNC ENSG00000196767 24 0 0 21 12 36.3636