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 VCAM1 0 genome.wustl.edu 37 1 101186193 101186193 + Missense_Mutation SNP A A G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 1 101186193 101186193 A G SNP VCAM1 ENST00000294728 human ensembl 74_37 +1 known missense c.226 p.T76A 0.860 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_C2-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom,prints_VCAM-1,prints_ICAM_VCAM_N - no_errors VCAM1 HGNC ENSG00000162692 82 0 0 46 31 40.2597 LRIF1 0 genome.wustl.edu 37 1 111494604 111494604 + Missense_Mutation SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 1 111494604 111494604 G A SNP LRIF1 ENST00000369763 human ensembl 74_37 -1 known missense c.902 p.T301M 0.851 NULL NULL - no_errors LRIF1 HGNC ENSG00000121931 72 0 0 42 22 34.375 CHIAP2 0 genome.wustl.edu 37 1 111826726 111826726 + RNA SNP G G T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 1 111826726 111826726 G T SNP CHIAP2 ENST00000369743 human ensembl 74_37 +1 known rna NULL NULL 0.061 - - - no_errors CHIAP2 HGNC ENSG00000203878 22 0 0 14 3 17.6471 MOV10 0 genome.wustl.edu 37 1 113237103 113237103 + Missense_Mutation SNP A A G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 1 113237103 113237103 A G SNP MOV10 ENST00000357443 human ensembl 74_37 +1 known missense c.1324 p.T442A 1.000 NULL superfamily_P-loop_NTPase - no_errors MOV10 HGNC ENSG00000155363 43 0 0 32 9 21.9512 PPM1J 0 genome.wustl.edu 37 1 113253964 113253964 + Missense_Mutation SNP G G T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 1 113253964 113253964 G T SNP PPM1J ENST00000309276 human ensembl 74_37 -1 known missense c.970 p.L324I 1.000 superfamily_PP2C-like_dom,smart_PP2C-like_dom pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom - no_errors PPM1J HGNC ENSG00000155367 12 0 0 13 4 23.5294 PRAMEF2 0 genome.wustl.edu 37 1 12920127 12920127 + Splice_Site SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 1 12920127 12920127 G A SNP PRAMEF2 ENST00000240189 human ensembl 74_37 +1 known splice_site c.866+1 e2+1 0.094 - - - no_errors PRAMEF2 HGNC ENSG00000120952 146 0 0 101 40 28.3688 OTUD7B 0 genome.wustl.edu 37 1 149916793 149916793 + Missense_Mutation SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 1 149916793 149916793 C T SNP OTUD7B ENST00000369135 human ensembl 74_37 -1 known missense c.1495 p.A499T 1.000 NULL pfam_OTU,superfamily_UBA-like,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20 - no_errors OTUD7B HGNC ENSG00000163113 126 0 0 71 53 42.7419 MIR554 0 genome.wustl.edu 37 1 151518351 151518351 + RNA SNP T T C TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 1 151518351 151518351 T C SNP MIR554 ENST00000384874 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors MIR554 HGNC ENSG00000207606 36 0 0 16 6 27.2727 TCHH 0 genome.wustl.edu 37 1 152082434 152082434 + Nonsense_Mutation SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 1 152082434 152082434 G A SNP TCHH ENST00000368804 human ensembl 74_37 -1 known nonsense c.3259 p.Q1087* 0.003 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors TCHH HGNC ENSG00000159450 95 0 0 57 26 31.3253 HRNR 0 genome.wustl.edu 37 1 152188549 152188549 + Silent SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 1 152188549 152188549 G A SNP HRNR ENST00000368801 human ensembl 74_37 -1 known silent c.5556 p.S1852 0.001 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors HRNR HGNC ENSG00000197915 278 0 0 250 46 15.5405 KCNN3 0 genome.wustl.edu 37 1 154698452 154698452 + Missense_Mutation SNP T T A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 1 154698452 154698452 T A SNP KCNN3 ENST00000271915 human ensembl 74_37 -1 novel missense c.1641 p.E547D 1.000 superfamily_CaM-bd_dom pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_2pore_dom_K_chnl_dom,superfamily_CaM-bd_dom,prints_K_chnl_Ca-activ_SK - no_errors KCNN3 HGNC ENSG00000143603 33 0 0 17 12 41.3793 THBS3 0 genome.wustl.edu 37 1 155168382 155168382 + Missense_Mutation SNP C C A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 1 155168382 155168382 C A SNP THBS3 ENST00000368378 human ensembl 74_37 -1 known missense c.1892 p.G631V 1.000 pfam_Thrombospondin_3-like_rpt pfam_Thrombospondin_C,pfam_Thbs/COMP_coiled-coil,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors THBS3 HGNC ENSG00000169231 72 0 0 61 35 36.4583 HCN3 0 genome.wustl.edu 37 1 155255714 155255714 + Missense_Mutation SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 1 155255714 155255714 G A SNP HCN3 ENST00000368358 human ensembl 74_37 +1 known missense c.1436 p.G479D 1.000 pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom pfam_Ion_trans_N,pfam_Ion_trans_dom,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG - no_errors HCN3 HGNC ENSG00000143630 43 0 0 24 22 47.8261 HCN3 0 genome.wustl.edu 37 1 155257084 155257084 + Missense_Mutation SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 1 155257084 155257084 G A SNP HCN3 ENST00000368358 human ensembl 74_37 +1 known missense c.1598 p.R533H 1.000 superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom pfam_Ion_trans_N,pfam_Ion_trans_dom,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG - no_errors HCN3 HGNC ENSG00000143630 53 0 0 47 31 39.7436 FCRL4 0 genome.wustl.edu 37 1 157557696 157557696 + Missense_Mutation SNP T T C TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 1 157557696 157557696 T C SNP FCRL4 ENST00000271532 human ensembl 74_37 -1 known missense c.521 p.N174S 0.000 smart_Ig_sub,smart_Ig_sub2 pfam_Immunoglobulin,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCRL4 HGNC ENSG00000163518 28 0 0 19 9 32.1429 CELA2B 0 genome.wustl.edu 37 1 15813917 15813917 + Silent SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 1 15813917 15813917 C T SNP CELA2B ENST00000375910 human ensembl 74_37 +1 known silent c.777 p.N259 0.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors CELA2B HGNC ENSG00000215704 137 0 0 89 36 28.8 OR10T2 0 genome.wustl.edu 37 1 158368769 158368769 + Missense_Mutation SNP A A G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 1 158368769 158368769 A G SNP OR10T2 ENST00000334438 human ensembl 74_37 -1 known missense c.488 p.L163P 0.134 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10T2 HGNC ENSG00000186306 87 0 0 78 23 22.7723 DARC 0 genome.wustl.edu 37 1 159176186 159176186 + Silent SNP G G T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 1 159176186 159176186 G T SNP DARC ENST00000368121 human ensembl 74_37 +1 known silent c.963 p.L321 0.005 NULL prints_Duffy_chemokine_rcpt - no_errors DARC HGNC ENSG00000213088 282 0 0 155 118 43.2234 RSC1A1 0 genome.wustl.edu 37 1 15986909 15986909 + Silent SNP A A G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 1 15986909 15986909 A G SNP RSC1A1 ENST00000345034 human ensembl 74_37 +1 known silent c.546 p.K182 0.000 NULL superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors RSC1A1 HGNC ENSG00000215695 69 0 0 50 20 28.5714 CDK11A 0 genome.wustl.edu 37 1 1638926 1638926 + Silent SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 1 1638926 1638926 G A SNP CDK11A ENST00000404249 human ensembl 74_37 -1 known silent c.1167 p.G389 0.986 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 CDK11A HGNC ENSG00000008128 29 0 0 12 9 42.8571 CROCCP2 0 genome.wustl.edu 37 1 16945566 16945566 + RNA SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 1 16945566 16945566 C T SNP CROCCP2 ENST00000412962 human ensembl 74_37 -1 known rna NULL NULL 0.977 - - - no_errors CROCCP2 HGNC ENSG00000215908 279 0 0 253 34 11.8467 FMO4 0 genome.wustl.edu 37 1 171310826 171310826 + Missense_Mutation SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 1 171310826 171310826 G A SNP FMO4 ENST00000367749 human ensembl 74_37 +1 known missense c.1525 p.A509T 0.009 pfam_Flavin_mOase-like,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase_4,prints_Flavin_mOase_1,prints_Flavin_mOase_3 pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_4,prints_Flavin_mOase_1,prints_Flavin_mOase_3 - no_errors FMO4 HGNC ENSG00000076258 41 0 0 39 4 9.30233 TNN 0 genome.wustl.edu 37 1 175067511 175067511 + Missense_Mutation SNP G G C TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 1 175067511 175067511 G C SNP TNN ENST00000239462 human ensembl 74_37 +1 known missense c.1899 p.E633D 0.997 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_Fibronectin_type3 - no_errors TNN HGNC ENSG00000120332 134 0 0 66 46 41.0714 CACNA1E 0 genome.wustl.edu 37 1 181680124 181680124 + Nonsense_Mutation SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 1 181680124 181680124 C T SNP CACNA1E ENST00000367573 human ensembl 74_37 +1 known nonsense c.1090 p.R364* 1.000 prints_VDCCAlpha1 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 85 0 0 58 34 36.9565 PRG4 0 genome.wustl.edu 37 1 186276875 186276875 + Missense_Mutation SNP A A G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 1 186276875 186276875 A G SNP PRG4 ENST00000445192 human ensembl 74_37 +1 known missense c.2024 p.N675S 0.000 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 78 0 0 49 20 28.9855 PTPRC 0 genome.wustl.edu 37 1 198711490 198711490 + Silent SNP A A G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 1 198711490 198711490 A G SNP PTPRC ENST00000442510 human ensembl 74_37 +1 known silent c.2691 p.Q897 1.000 pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Leukocyte_common_ag,pfam_PTP_recept_N,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,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 - no_errors PTPRC HGNC ENSG00000081237 95 0 0 106 10 8.62069 FMOD 0 genome.wustl.edu 37 1 203316677 203316677 + Missense_Mutation SNP C C A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 1 203316677 203316677 C A SNP FMOD ENST00000354955 human ensembl 74_37 -1 known missense c.722 p.G241V 0.033 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 FMOD HGNC ENSG00000122176 131 1 0.757576 86 51 37.2263 GOLT1A 0 genome.wustl.edu 37 1 204168355 204168355 + Missense_Mutation SNP C C A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 1 204168355 204168355 C A SNP GOLT1A ENST00000308302 human ensembl 74_37 -1 known missense c.328 p.G110C 0.999 NULL pfam_Vesicle_transpt_Got1/SFT2 - no_errors GOLT1A HGNC ENSG00000174567 8 0 0 8 5 38.4615 LRRN2 0 genome.wustl.edu 37 1 204588803 204588803 + Silent SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 1 204588803 204588803 C T SNP LRRN2 ENST00000367175 human ensembl 74_37 -1 known silent c.318 p.S106 0.000 pfam_Leu-rich_rpt,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 98 0 0 53 32 37.6471 TMCC2 0 genome.wustl.edu 37 1 205241213 205241213 + Silent SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 1 205241213 205241213 C T SNP TMCC2 ENST00000358024 human ensembl 74_37 +1 known silent c.2091 p.S697 0.995 pfam_Predicted_TM_coiled-coil_2 pfam_Predicted_TM_coiled-coil_2,superfamily_t-SNARE - no_errors TMCC2 HGNC ENSG00000133069 93 0 0 53 20 27.3973 SLC41A1 0 genome.wustl.edu 37 1 205760599 205760599 + RNA SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 1 205760599 205760599 G A SNP SLC41A1 ENST00000468057 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors SLC41A1 HGNC ENSG00000133065 30 0 0 14 7 33.3333 CR1 0 genome.wustl.edu 37 1 207787753 207787753 + Nonsense_Mutation SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 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 73 0 0 59 10 14.4928 CR1 0 genome.wustl.edu 37 1 207787831 207787831 + Nonsense_Mutation SNP G G T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 1 207787831 207787831 G T SNP CR1 ENST00000367049 human ensembl 74_37 +1 known nonsense c.6658 p.E2220* 1.000 superfamily_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 81 0 0 67 9 11.8421 CENPF 0 genome.wustl.edu 37 1 214832209 214832209 + Silent SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 1 214832209 214832209 G A SNP CENPF ENST00000366955 human ensembl 74_37 +1 known silent c.8979 p.P2993 0.003 pfam_CenpF/LEK1_Rb-prot-bd pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_CenpF/LEK1_Rb-prot-bd - no_errors CENPF HGNC ENSG00000117724 125 1 0.793651 70 44 38.5965 USH2A 0 genome.wustl.edu 37 1 215916618 215916618 + Missense_Mutation SNP T T G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 1 215916618 215916618 T G SNP USH2A ENST00000366943 human ensembl 74_37 -1 known missense c.11449 p.T3817P 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 83 0 0 65 36 35.6436 USH2A 0 genome.wustl.edu 37 1 216595572 216595572 + Missense_Mutation SNP A A C TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 1 216595572 216595572 A C SNP USH2A ENST00000366943 human ensembl 74_37 -1 known missense c.107 p.L36R 0.677 NULL 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 93 0 0 80 5 5.88235 LEFTY2 0 genome.wustl.edu 37 1 226125285 226125285 + Silent SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 1 226125285 226125285 C T SNP LEFTY2 ENST00000366820 human ensembl 74_37 -1 known silent c.957 p.S319 0.282 smart_TGF-b_C,pirsf_LRDF,prints_LRDF pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C,pirsf_LRDF,prints_LRDF - no_errors LEFTY2 HGNC ENSG00000143768 43 0 0 23 8 25.8065 ADCK3 0 genome.wustl.edu 37 1 227174190 227174190 + Missense_Mutation SNP C C A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 1 227174190 227174190 C A SNP ADCK3 ENST00000366777 human ensembl 74_37 +1 known missense c.1696 p.L566M 1.000 NULL pfam_UbiB_dom,superfamily_Kinase-like_dom - no_errors ADCK3 HGNC ENSG00000163050 81 0 0 60 9 13.0435 JMJD4 0 genome.wustl.edu 37 1 227920624 227920624 + Silent SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 1 227920624 227920624 G A SNP JMJD4 ENST00000366758 human ensembl 74_37 -1 known silent c.1065 p.S355 0.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors JMJD4 HGNC ENSG00000081692 43 0 0 30 14 31.8182 LYST 0 genome.wustl.edu 37 1 235914579 235914579 + Missense_Mutation SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 1 235914579 235914579 G A SNP LYST ENST00000389793 human ensembl 74_37 -1 known missense c.7711 p.L2571F 0.763 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 114 0 0 85 42 33.0709 E2F2 0 genome.wustl.edu 37 1 23836471 23836471 + Silent SNP T T C TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 1 23836471 23836471 T C SNP E2F2 ENST00000361729 human ensembl 74_37 -1 known silent c.1215 p.P405 0.062 NULL pfam_E2F_TDP - no_errors E2F2 HGNC ENSG00000007968 21 0 0 16 8 33.3333 TCEB3 0 genome.wustl.edu 37 1 24083515 24083515 + Silent SNP T T C TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 1 24083515 24083515 T C SNP TCEB3 ENST00000418390 human ensembl 74_37 +1 known silent c.2235 p.P745 0.000 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 180 0 0 113 70 38.2514 GALE 0 genome.wustl.edu 37 1 24125170 24125170 + Missense_Mutation SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 1 24125170 24125170 G A SNP GALE ENST00000374497 human ensembl 74_37 -1 known missense c.172 p.R58C 0.848 pfam_Epimerase_deHydtase,pfam_3Beta_OHSteriod_DH/Estase,pfam_dTDP_dehydrorham_reduct,pfam_Polysac_CapD-like,pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,tigrfam_GalE pfam_Epimerase_deHydtase,pfam_3Beta_OHSteriod_DH/Estase,pfam_dTDP_dehydrorham_reduct,pfam_Polysac_CapD-like,pfam_DH_sc/Rdtase_SDR,pfam_Male_sterile_NAD-bd,pfam_PKS_KR,prints_Nuc_sugar_epim,tigrfam_GalE - no_errors GALE HGNC ENSG00000117308 36 0 0 12 9 42.8571 MYOM3 0 genome.wustl.edu 37 1 24408528 24408528 + Missense_Mutation SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 1 24408528 24408528 G A SNP MYOM3 ENST00000330966 human ensembl 74_37 -1 known missense c.2246 p.A749V 0.423 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYOM3 HGNC ENSG00000142661 19 0 0 14 12 46.1538 OR2L3 0 genome.wustl.edu 37 1 248224181 248224181 + Silent SNP C C A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 1 248224181 248224181 C A SNP OR2L3 ENST00000359959 human ensembl 74_37 +1 known silent c.198 p.S66 0.006 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 OR2L3 HGNC ENSG00000198128 316 0 0 209 117 35.8896 OR2L13 0 genome.wustl.edu 37 1 248263381 248263381 + Missense_Mutation SNP A A G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 1 248263381 248263381 A G SNP OR2L13 ENST00000358120 human ensembl 74_37 +1 known missense c.704 p.K235R 1.000 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 OR2L13 HGNC ENSG00000196071 87 0 0 53 42 44.2105 MMEL1 0 genome.wustl.edu 37 1 2526293 2526293 + Nonsense_Mutation SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 1 2526293 2526293 G A SNP MMEL1 ENST00000378412 human ensembl 74_37 -1 known nonsense c.1624 p.Q542* 1.000 NULL pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors MMEL1 HGNC ENSG00000142606 33 0 0 26 18 40.9091 PDIK1L 0 genome.wustl.edu 37 1 26448694 26448694 + Missense_Mutation SNP G G T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 1 26448694 26448694 G T SNP PDIK1L ENST00000374269 human ensembl 74_37 +1 known missense c.652 p.A218S 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 PDIK1L HGNC ENSG00000175087 81 0 0 58 43 42.5743 CEP85 0 genome.wustl.edu 37 1 26582097 26582097 + Missense_Mutation SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 1 26582097 26582097 G A SNP CEP85 ENST00000252992 human ensembl 74_37 +1 known missense c.644 p.S215N 0.319 NULL NULL - no_errors CEP85 HGNC ENSG00000130695 100 0 0 60 40 40 ADC 0 genome.wustl.edu 37 1 33585749 33585749 + Missense_Mutation SNP T T C TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 1 33585749 33585749 T C SNP ADC ENST00000373441 human ensembl 74_37 +1 known missense c.1409 p.V470A 1.000 NULL 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 ADC HGNC ENSG00000142920 39 0 0 31 9 22.5 PHC2 0 genome.wustl.edu 37 1 33841025 33841025 + Missense_Mutation SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 1 33841025 33841025 C T SNP PHC2 ENST00000419414 human ensembl 74_37 -1 known missense c.116 p.R39H 0.984 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM,pfscan_Znf_FCS - no_errors PHC2 HGNC ENSG00000134686 41 0 0 27 13 32.5 CSMD2 0 genome.wustl.edu 37 1 34006749 34006749 + Silent SNP T T C TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 1 34006749 34006749 T C SNP CSMD2 ENST00000373381 human ensembl 74_37 -1 known silent c.9438 p.G3146 0.133 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD2 HGNC ENSG00000121904 111 0 0 67 37 35.5769 CSMD2 0 genome.wustl.edu 37 1 34071015 34071015 + Missense_Mutation SNP C C A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 1 34071015 34071015 C A SNP CSMD2 ENST00000373381 human ensembl 74_37 -1 known missense c.6399 p.R2133S 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD2 HGNC ENSG00000121904 50 0 0 45 4 8.16327 TP73 0 genome.wustl.edu 37 1 3638707 3638707 + Silent SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 1 3638707 3638707 G A SNP TP73 ENST00000378295 human ensembl 74_37 +1 known silent c.552 p.A184 0.049 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_SAM_2,superfamily_p53-like_TF_DNA-bd,superfamily_SAM/pointed,superfamily_p53_tetrameristn,smart_SAM,prints_p53_tumour_suppressor - no_errors TP73 HGNC ENSG00000078900 48 0 0 42 18 30 ZC3H12A 0 genome.wustl.edu 37 1 37948856 37948856 + Missense_Mutation SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 1 37948856 37948856 G A SNP ZC3H12A ENST00000373087 human ensembl 74_37 +1 known missense c.1444 p.A482T 0.001 NULL pfam_RNase_Zc3h12 - no_errors ZC3H12A HGNC ENSG00000163874 48 0 0 44 26 37.1429 BMP8B 0 genome.wustl.edu 37 1 40230378 40230378 + Missense_Mutation SNP G G T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 1 40230378 40230378 G T SNP BMP8B ENST00000372827 human ensembl 74_37 -1 known missense c.785 p.P262H 0.633 prints_Inhibin_asu pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C,prints_Inhibin_asu - no_errors BMP8B HGNC ENSG00000116985 36 0 0 35 9 20.4545 B4GALT2 0 genome.wustl.edu 37 1 44447544 44447544 + Missense_Mutation SNP A A G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 1 44447544 44447544 A G SNP B4GALT2 ENST00000309519 human ensembl 74_37 +1 known missense c.584 p.H195R 1.000 pfam_Galactosyl_T_C pfam_Galactosyl_T_C,prints_Galactosyl_T - no_errors B4GALT2 HGNC ENSG00000117411 47 0 0 27 14 34.1463 ZSWIM5 0 genome.wustl.edu 37 1 45671791 45671791 + Missense_Mutation SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 1 45671791 45671791 C T SNP ZSWIM5 ENST00000359600 human ensembl 74_37 -1 known missense c.232 p.A78T 1.000 NULL pfscan_Znf_SWIM - no_errors ZSWIM5 HGNC ENSG00000162415 8 0 0 4 8 66.6667 EFCAB14 0 genome.wustl.edu 37 1 47149030 47149030 + Silent SNP T T C TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 1 47149030 47149030 T C SNP EFCAB14 ENST00000371933 human ensembl 74_37 -1 known silent c.1254 p.P418 0.000 NULL pfscan_EF_hand_dom - no_errors EFCAB14 HGNC ENSG00000159658 83 0 0 46 31 40.2597 FGGY 0 genome.wustl.edu 37 1 59811947 59811947 + Nonsense_Mutation SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 1 59811947 59811947 G A SNP FGGY ENST00000303721 human ensembl 74_37 +1 known nonsense c.342 p.W114* 1.000 pfam_Carb_kinase_FGGY_N,tigrfam_Carb_kinase_FGGY-rel pfam_Carb_kinase_FGGY_C,pfam_Carb_kinase_FGGY_N,tigrfam_Carb_kinase_FGGY-rel - no_errors FGGY HGNC ENSG00000172456 62 0 0 54 13 19.403 CHD5 0 genome.wustl.edu 37 1 6203990 6203990 + Nonsense_Mutation SNP C C A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 1 6203990 6203990 C A SNP CHD5 ENST00000262450 human ensembl 74_37 -1 known nonsense c.1936 p.E646* 1.000 superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_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_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 CHD5 HGNC ENSG00000116254 80 0 0 43 32 42.6667 KANK4 0 genome.wustl.edu 37 1 62718875 62718875 + Missense_Mutation SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 1 62718875 62718875 C T SNP KANK4 ENST00000371153 human ensembl 74_37 -1 known missense c.2546 p.C849Y 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom 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 63 0 0 46 21 31.3433 RERE 0 genome.wustl.edu 37 1 8424823 8424823 + Missense_Mutation SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 1 8424823 8424823 C T SNP RERE ENST00000337907 human ensembl 74_37 -1 known missense c.1523 p.R508H 1.000 pfam_Znf_GATA,smart_Znf_GATA 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 21 0 0 23 11 32.3529 TTLL7 0 genome.wustl.edu 37 1 84373183 84373183 + Missense_Mutation SNP G G T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 1 84373183 84373183 G T SNP TTLL7 ENST00000260505 human ensembl 74_37 -1 known missense c.1948 p.H650N 0.188 NULL pfam_TTL/TTLL_fam - no_errors TTLL7 HGNC ENSG00000137941 105 1 0.943396 62 38 38 MCOLN2 0 genome.wustl.edu 37 1 85424271 85424271 + Missense_Mutation SNP T T G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 1 85424271 85424271 T G SNP MCOLN2 ENST00000370608 human ensembl 74_37 -1 known missense c.352 p.S118R 1.000 NULL pfam_PKD1_2_channel - no_errors MCOLN2 HGNC ENSG00000153898 87 0 0 81 35 30.1724 GBP2 0 genome.wustl.edu 37 1 89586917 89586917 + Missense_Mutation SNP T T C TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 1 89586917 89586917 T C SNP GBP2 ENST00000370466 human ensembl 74_37 -1 known missense c.227 p.K76R 1.000 pfam_Guanylate-bd_N,superfamily_P-loop_NTPase pfam_Guanylate-bd_C,pfam_Guanylate-bd_N,superfamily_Guanylate-bd_C,superfamily_P-loop_NTPase - no_errors GBP2 HGNC ENSG00000162645 147 0 0 75 43 36.4407 GLMN 0 genome.wustl.edu 37 1 92754658 92754658 + Missense_Mutation SNP T T C TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 1 92754658 92754658 T C SNP GLMN ENST00000370360 human ensembl 74_37 -1 known missense c.445 p.T149A 0.974 pfam_YAP-bd/Alf4/glomulin pfam_YAP-bd/Alf4/glomulin - no_errors GLMN HGNC ENSG00000174842 82 0 0 55 43 43.8776 COX15 0 genome.wustl.edu 37 10 101473179 101473179 + Missense_Mutation SNP T T G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 10 101473179 101473179 T G SNP COX15 ENST00000370483 human ensembl 74_37 -1 known missense c.1159 p.N387H 0.005 NULL pfam_HemeA_syn,superfamily_Trypsin-like_Pept_dom - no_errors COX15 HGNC ENSG00000014919 44 0 0 29 16 35.5556 DNMBP 0 genome.wustl.edu 37 10 101731839 101731839 + Missense_Mutation SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 10 101731839 101731839 G A SNP DNMBP ENST00000342239 human ensembl 74_37 -1 known missense c.43 p.P15S 1.000 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_BAR_dom,pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_BAR_dom,pfscan_BAR_dom,pfscan_SH3_domain,pfscan_DH-domain,prints_p67phox,prints_Spectrin_alpha_SH3 - no_errors DNMBP HGNC ENSG00000107554 116 1 0.854701 103 6 5.50459 SCD 0 genome.wustl.edu 37 10 102120550 102120550 + Missense_Mutation SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 10 102120550 102120550 C T SNP SCD ENST00000370355 human ensembl 74_37 +1 known missense c.940 p.R314C 1.000 NULL pfam_Fatty_acid_desaturase-1,prints_Fatty_acid_desaturase-1_core - no_errors SCD HGNC ENSG00000099194 103 0 0 65 41 38.6792 SFXN2 0 genome.wustl.edu 37 10 104489523 104489523 + Missense_Mutation SNP T T C TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 10 104489523 104489523 T C SNP SFXN2 ENST00000369893 human ensembl 74_37 +1 known missense c.551 p.V184A 1.000 pfam_Mtc,tigrfam_Mtc pfam_Mtc,tigrfam_Mtc - no_errors SFXN2 HGNC ENSG00000156398 57 0 0 30 19 38.7755 PDCD11 0 genome.wustl.edu 37 10 105174906 105174906 + Missense_Mutation SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 10 105174906 105174906 C T SNP PDCD11 ENST00000369797 human ensembl 74_37 +1 known missense c.1516 p.R506W 1.000 pfam_Rbsml_prot_S1_RNA-bd_dom,superfamily_NA-bd_OB-fold,smart_RNA-binding_domain_S1,pfscan_Rbsml_prot_S1_RNA-bd_dom pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_Suf,superfamily_NA-bd_OB-fold,smart_RNA-binding_domain_S1,smart_HAT,pfscan_TPR-contain_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom,prints_Ribosomal_S1 - no_errors PDCD11 HGNC ENSG00000148843 43 0 0 20 9 31.0345 COL17A1 0 genome.wustl.edu 37 10 105823514 105823514 + Missense_Mutation SNP A A G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 10 105823514 105823514 A G SNP COL17A1 ENST00000353479 human ensembl 74_37 -1 known missense c.829 p.S277P 0.998 NULL pfam_Collagen - no_errors COL17A1 HGNC ENSG00000065618 37 0 0 37 5 11.9048 TCF7L2 0 genome.wustl.edu 37 10 114925501 114925501 + Missense_Mutation SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 10 114925501 114925501 G A SNP TCF7L2 ENST00000355995 human ensembl 74_37 +1 known missense c.1630 p.A544T 1.000 NULL 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 51 0 0 34 17 33.3333 GFRA1 0 genome.wustl.edu 37 10 118030461 118030461 + Missense_Mutation SNP C C A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 10 118030461 118030461 C A SNP GFRA1 ENST00000355422 human ensembl 74_37 -1 known missense c.207 p.K69N 1.000 pfam_GDNF/GAS1,smart_GDNF/GAS1,pirsf_Glial_neurotroph_fac_rcpt_a1/2,prints_GDNF_rcpt_A1 pfam_GDNF/GAS1,smart_GDNF/GAS1,pirsf_Glial_neurotroph_fac_rcpt_a1/2,prints_GDNF_rcpt,prints_GDNF_rcpt_A1 - no_errors GFRA1 HGNC ENSG00000151892 28 0 0 41 11 21.1538 PRLHR 0 genome.wustl.edu 37 10 120353797 120353797 + Silent SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 10 120353797 120353797 G A SNP PRLHR ENST00000239032 human ensembl 74_37 -1 known silent c.960 p.C320 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_Prolrel_pep_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors PRLHR HGNC ENSG00000119973 52 0 0 25 19 43.1818 UPF2 0 genome.wustl.edu 37 10 12070793 12070793 + Missense_Mutation SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 10 12070793 12070793 G A SNP UPF2 ENST00000356352 human ensembl 74_37 -1 known missense c.1096 p.H366Y 1.000 pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold pfam_MIF4G-like_typ-3,pfam_Up-fram_suppressor-2,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 - no_errors UPF2 HGNC ENSG00000151461 71 0 0 45 24 34.7826 SFXN4 0 genome.wustl.edu 37 10 120925115 120925115 + Silent SNP T T G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 10 120925115 120925115 T G SNP SFXN4 ENST00000355697 human ensembl 74_37 -1 known silent c.45 p.L15 0.000 NULL pfam_Mtc - no_errors SFXN4 HGNC ENSG00000183605 20 0 0 15 9 37.5 TACC2 0 genome.wustl.edu 37 10 123844834 123844834 + Missense_Mutation SNP A A C TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 10 123844834 123844834 A C SNP TACC2 ENST00000334433 human ensembl 74_37 +1 known missense c.2819 p.K940T 0.007 NULL pfam_TACC - no_errors TACC2 HGNC ENSG00000138162 80 0 0 49 39 44.3182 TACC2 0 genome.wustl.edu 37 10 123903103 123903103 + Missense_Mutation SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 10 123903103 123903103 G A SNP TACC2 ENST00000334433 human ensembl 74_37 +1 known missense c.5716 p.A1906T 0.028 NULL pfam_TACC - no_errors TACC2 HGNC ENSG00000138162 82 0 0 75 5 6.25 CAMK1D 0 genome.wustl.edu 37 10 12803039 12803039 + Missense_Mutation SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 10 12803039 12803039 C T SNP CAMK1D ENST00000378847 human ensembl 74_37 +1 known missense c.392 p.A131V 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CAMK1D HGNC ENSG00000183049 52 0 0 41 14 25.4545 DOCK1 0 genome.wustl.edu 37 10 129172450 129172450 + Missense_Mutation SNP A A C TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 10 129172450 129172450 A C SNP DOCK1 ENST00000280333 human ensembl 74_37 +1 known missense c.3584 p.N1195T 0.960 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 49 0 0 26 20 43.4783 MKI67 0 genome.wustl.edu 37 10 129905499 129905499 + Silent SNP G G C TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 10 129905499 129905499 G C SNP MKI67 ENST00000368654 human ensembl 74_37 -1 known silent c.4605 p.G1535 0.000 pfam_K167R pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors MKI67 HGNC ENSG00000148773 278 0 0 196 112 36.3636 MKI67 0 genome.wustl.edu 37 10 129905503 129905503 + Missense_Mutation SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 10 129905503 129905503 G A SNP MKI67 ENST00000368654 human ensembl 74_37 -1 known missense c.4601 p.A1534V 0.000 pfam_K167R pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors MKI67 HGNC ENSG00000148773 278 0 0 199 107 34.9673 DPYSL4 0 genome.wustl.edu 37 10 134014458 134014458 + Missense_Mutation SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 10 134014458 134014458 C T SNP DPYSL4 ENST00000338492 human ensembl 74_37 +1 known missense c.1081 p.R361C 1.000 pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors DPYSL4 HGNC ENSG00000151640 31 0 0 22 13 37.1429 NEBL 0 genome.wustl.edu 37 10 21074772 21074772 + Silent SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 10 21074772 21074772 G A SNP NEBL ENST00000377122 human ensembl 74_37 -1 known silent c.2949 p.N983 0.987 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_SH3_domain - no_errors NEBL HGNC ENSG00000078114 65 0 0 66 27 29.0323 ARMC4 0 genome.wustl.edu 37 10 28274045 28274045 + Missense_Mutation SNP C C G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 10 28274045 28274045 C G SNP ARMC4 ENST00000305242 human ensembl 74_37 -1 known missense c.478 p.D160H 0.090 NULL pfam_Armadillo,superfamily_ARM-type_fold,superfamily_GSKIP_dom,smart_Armadillo,pfscan_Armadillo - no_errors ARMC4 HGNC ENSG00000169126 25 0 0 11 10 47.619 ERCC6 0 genome.wustl.edu 37 10 50686483 50686483 + Nonsense_Mutation SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 10 50686483 50686483 G A SNP ERCC6 ENST00000355832 human ensembl 74_37 -1 known nonsense c.2203 p.R735* 1.000 pfam_SNF2_N,superfamily_P-loop_NTPase pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ERCC6 HGNC ENSG00000225830 144 0 0 96 56 36.8421 PCDH15 0 genome.wustl.edu 37 10 55581859 55581859 + Missense_Mutation SNP T T C TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 10 55581859 55581859 T C SNP PCDH15 ENST00000320301 human ensembl 74_37 -1 known missense c.5627 p.Q1876R 0.417 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 162 0 0 106 51 32.4841 PCDH15 0 genome.wustl.edu 37 10 55721625 55721625 + Missense_Mutation SNP T T C TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 10 55721625 55721625 T C SNP PCDH15 ENST00000320301 human ensembl 74_37 -1 known missense c.2896 p.R966G 0.957 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 63 0 0 56 28 33.3333 FAM208B 0 genome.wustl.edu 37 10 5789072 5789072 + Missense_Mutation SNP A A G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 10 5789072 5789072 A G SNP FAM208B ENST00000328090 human ensembl 74_37 +1 known missense c.3688 p.T1230A 0.000 NULL pfam_DUF3715,pfam_DUF3699 - no_errors FAM208B HGNC ENSG00000108021 90 0 0 77 44 36.3636 CTNNA3 0 genome.wustl.edu 37 10 68940246 68940246 + Silent SNP A A G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 10 68940246 68940246 A G SNP CTNNA3 ENST00000373744 human ensembl 74_37 -1 known silent c.876 p.T292 0.996 pfam_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA3 HGNC ENSG00000183230 71 0 0 60 15 20 ADAMTS14 0 genome.wustl.edu 37 10 72489928 72489928 + Missense_Mutation SNP A A G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 10 72489928 72489928 A G SNP ADAMTS14 ENST00000373208 human ensembl 74_37 +1 known missense c.1025 p.Q342R 1.000 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS14 HGNC ENSG00000138316 39 0 0 21 13 38.2353 TTC18 0 genome.wustl.edu 37 10 75113397 75113397 + Missense_Mutation SNP G G C TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 10 75113397 75113397 G C SNP TTC18 ENST00000310715 human ensembl 74_37 -1 known missense c.167 p.A56G 1.000 NULL smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC18 HGNC ENSG00000156042 51 0 0 38 23 37.7049 CNTN5 0 genome.wustl.edu 37 11 100211320 100211320 + Silent SNP T T G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 11 100211320 100211320 T G SNP CNTN5 ENST00000279463 human ensembl 74_37 +1 known silent c.2856 p.A952 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN5 HGNC ENSG00000149972 55 0 0 29 18 38.2979 MSANTD4 0 genome.wustl.edu 37 11 105880317 105880317 + Missense_Mutation SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 11 105880317 105880317 C T SNP MSANTD4 ENST00000301919 human ensembl 74_37 -1 known missense c.983 p.R328H 1.000 NULL NULL - no_errors MSANTD4 HGNC ENSG00000170903 105 0 0 85 14 14.1414 CTR9 0 genome.wustl.edu 37 11 10785739 10785739 + Silent SNP T T C TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 11 10785739 10785739 T C SNP CTR9 ENST00000361367 human ensembl 74_37 +1 known silent c.1275 p.T425 0.813 pfscan_TPR-contain_dom pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CTR9 HGNC ENSG00000198730 97 0 0 63 32 33.6842 KDELC2 0 genome.wustl.edu 37 11 108352801 108352801 + Missense_Mutation SNP A A C TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 11 108352801 108352801 A C SNP KDELC2 ENST00000323468 human ensembl 74_37 -1 known missense c.833 p.I278S 1.000 pfam_LipoPS_modifying,smart_LipoPS_modifying pfam_LipoPS_modifying,pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,smart_LipoPS_modifying,pfscan_Filamin/ABP280_repeat-like - no_errors KDELC2 HGNC ENSG00000178202 146 0 0 83 55 39.8551 CRYAB 0 genome.wustl.edu 37 11 111780943 111780943 + Silent SNP A A G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 11 111780943 111780943 A G SNP CRYAB ENST00000533971 human ensembl 74_37 -1 putative silent c.432 p.H144 0.000 NULL pfam_Alpha-crystallin_N,pfam_a-crystallin/Hsp20_dom,superfamily_HSP20-like_chaperone,prints_Alpha-crystallin/HSP - no_errors CRYAB HGNC ENSG00000109846 18 0 0 18 6 25 UBE4A 0 genome.wustl.edu 37 11 118244399 118244399 + Missense_Mutation SNP A A G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 11 118244399 118244399 A G SNP UBE4A ENST00000431736 human ensembl 74_37 +1 known missense c.1136 p.Q379R 1.000 pfam_Ub_conjug_fac_E4_core pfam_Ub_conjug_fac_E4_core,pfam_Ubox_domain,smart_Ubox_domain - no_errors UBE4A HGNC ENSG00000110344 43 0 0 42 9 17.6471 MCAM 0 genome.wustl.edu 37 11 119185613 119185613 + Silent SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 11 119185613 119185613 G A SNP MCAM ENST00000264036 human ensembl 74_37 -1 known silent c.330 p.D110 0.983 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Immunoglobulin,pfam_CD80_C2-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MCAM HGNC ENSG00000076706 47 0 0 23 18 43.9024 MICALCL 0 genome.wustl.edu 37 11 12315225 12315225 + Missense_Mutation SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 11 12315225 12315225 C T SNP MICALCL ENST00000256186 human ensembl 74_37 +1 known missense c.247 p.P83S 0.882 NULL pfam_DUF3585,smart_ProQ/FinO - no_errors MICALCL HGNC ENSG00000133808 175 0 0 114 72 38.7097 OR10G4 0 genome.wustl.edu 37 11 123887010 123887010 + Silent SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 11 123887010 123887010 C T SNP OR10G4 ENST00000320891 human ensembl 74_37 +1 known silent c.729 p.H243 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10G4 HGNC ENSG00000254737 78 0 0 45 20 30.7692 TRPM5 0 genome.wustl.edu 37 11 2438983 2438983 + Missense_Mutation SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 11 2438983 2438983 G A SNP TRPM5 ENST00000452833 human ensembl 74_37 -1 known missense c.989 p.T330M 0.993 NULL superfamily_Ankyrin_rpt-contain_dom - no_errors TRPM5 HGNC ENSG00000070985 20 0 0 7 9 56.25 CHST1 0 genome.wustl.edu 37 11 45671618 45671618 + Missense_Mutation SNP C C A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 11 45671618 45671618 C A SNP CHST1 ENST00000308064 human ensembl 74_37 -1 known missense c.856 p.G286C 1.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase - no_errors CHST1 HGNC ENSG00000175264 38 0 0 31 13 29.5455 HARBI1 0 genome.wustl.edu 37 11 46625165 46625165 + Missense_Mutation SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 11 46625165 46625165 G A SNP HARBI1 ENST00000326737 human ensembl 74_37 -1 known missense c.965 p.P322L 0.991 NULL pfam_Harbinger_derived_prot_plant - no_errors HARBI1 HGNC ENSG00000180423 66 0 0 46 24 34.2857 LRP4 0 genome.wustl.edu 37 11 46910972 46910972 + Silent SNP G G T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 11 46910972 46910972 G T SNP LRP4 ENST00000378623 human ensembl 74_37 -1 known silent c.2205 p.A735 1.000 superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom 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 91 0 0 50 39 43.8202 TRIM48 0 genome.wustl.edu 37 11 55035844 55035844 + Missense_Mutation SNP T T C TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 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 59 0 0 89 5 5.31915 UBQLN3 0 genome.wustl.edu 37 11 5528836 5528836 + Silent SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 11 5528836 5528836 C T SNP UBQLN3 ENST00000311659 human ensembl 74_37 -1 known silent c.1953 p.K651 0.999 pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,pfam_UBA/Ts_N,superfamily_UBA-like,superfamily_ARM-type_fold,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 UBQLN3 HGNC ENSG00000175520 84 0 0 36 26 41.9355 OR4C16 0 genome.wustl.edu 37 11 55340531 55340531 + Silent SNP A A C TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 11 55340531 55340531 A C SNP OR4C16 ENST00000314634 human ensembl 74_37 +1 known silent c.928 p.R310 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C16 HGNC ENSG00000181935 16 0 0 15 6 28.5714 OR5D18 0 genome.wustl.edu 37 11 55587286 55587286 + Missense_Mutation SNP T T C TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 11 55587286 55587286 T C SNP OR5D18 ENST00000333976 human ensembl 74_37 +1 known missense c.181 p.Y61H 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 OR5D18 HGNC ENSG00000186119 175 0 0 129 57 30.6452 SLC43A1 0 genome.wustl.edu 37 11 57258808 57258808 + Missense_Mutation SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 11 57258808 57258808 G A SNP SLC43A1 ENST00000278426 human ensembl 74_37 -1 known missense c.1082 p.A361V 0.999 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC43A1 HGNC ENSG00000149150 29 0 0 25 6 19.3548 INTS5 0 genome.wustl.edu 37 11 62416571 62416571 + Silent SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 11 62416571 62416571 G A SNP INTS5 ENST00000330574 human ensembl 74_37 -1 known silent c.981 p.G327 0.997 NULL NULL - no_errors INTS5 HGNC ENSG00000185085 70 0 0 75 6 7.40741 C11orf84 0 genome.wustl.edu 37 11 63585488 63585488 + Missense_Mutation SNP G G T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 11 63585488 63585488 G T SNP C11orf84 ENST00000294244 human ensembl 74_37 +1 known missense c.339 p.Q113H 1.000 NULL NULL - no_errors C11orf84 HGNC ENSG00000168005 60 0 0 22 11 33.3333 CDC42BPG 0 genome.wustl.edu 37 11 64606355 64606355 + Missense_Mutation SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 11 64606355 64606355 G A SNP CDC42BPG ENST00000342711 human ensembl 74_37 -1 known missense c.896 p.P299L 0.001 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_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 22 0 0 9 5 35.7143 MALAT1 0 genome.wustl.edu 37 11 65269106 65269106 + RNA SNP A A G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 11 65269106 65269106 A G SNP MALAT1 ENST00000534336 human ensembl 74_37 +1 known rna NULL NULL 0.972 - - - no_errors MALAT1 HGNC ENSG00000251562 87 0 0 58 36 38.2979 EHBP1L1 0 genome.wustl.edu 37 11 65349384 65349384 + Missense_Mutation SNP A A G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 11 65349384 65349384 A G SNP EHBP1L1 ENST00000309295 human ensembl 74_37 +1 known missense c.1241 p.E414G 0.140 NULL pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors EHBP1L1 HGNC ENSG00000173442 60 0 0 19 18 48.6486 PCNXL3 0 genome.wustl.edu 37 11 65386142 65386142 + Nonsense_Mutation SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 11 65386142 65386142 C T SNP PCNXL3 ENST00000355703 human ensembl 74_37 +1 known nonsense c.1309 p.R437* 0.988 NULL pfam_Pecanex - no_errors PCNXL3 HGNC ENSG00000197136 31 0 0 24 12 33.3333 RRP8 0 genome.wustl.edu 37 11 6622451 6622451 + Missense_Mutation SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 11 6622451 6622451 C T SNP RRP8 ENST00000254605 human ensembl 74_37 -1 known missense c.845 p.R282H 0.964 pfam_Methyltransferase-rel pfam_Methyltransferase-rel,pfam_Methyltransf_11 - no_errors RRP8 HGNC ENSG00000132275 17 0 0 12 12 50 RBM4B 0 genome.wustl.edu 37 11 66436473 66436473 + Silent SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 11 66436473 66436473 C T SNP RBM4B ENST00000310046 human ensembl 74_37 -1 known silent c.702 p.A234 0.142 NULL pfam_RRM_dom,pfam_Znf_CCHC,smart_RRM_dom,smart_Znf_CCHC,pfscan_Znf_CCHC,pfscan_RRM_dom - no_errors RBM4B HGNC ENSG00000173914 52 0 0 33 16 32.6531 TBX10 0 genome.wustl.edu 37 11 67400514 67400514 + Missense_Mutation SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 11 67400514 67400514 G A SNP TBX10 ENST00000335385 human ensembl 74_37 -1 known missense c.610 p.R204C 0.953 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 TBX10 HGNC ENSG00000167800 185 0 0 179 56 23.8298 ALDH3B1 0 genome.wustl.edu 37 11 67789015 67789015 + Silent SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 11 67789015 67789015 C T SNP ALDH3B1 ENST00000007633 human ensembl 74_37 +1 known silent c.621 p.T207 0.872 pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH_NAD(P) pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH_NAD(P) - no_errors ALDH3B1 HGNC ENSG00000006534 150 0 0 84 44 34.375 NUMA1 0 genome.wustl.edu 37 11 71733444 71733444 + Missense_Mutation SNP G G T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 11 71733444 71733444 G T SNP NUMA1 ENST00000393695 human ensembl 74_37 -1 known missense c.313 p.H105N 0.999 NULL superfamily_Prefoldin - no_errors NUMA1 HGNC ENSG00000137497 122 0 0 79 43 35.2459 FOLR2 0 genome.wustl.edu 37 11 71932697 71932697 + Missense_Mutation SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 11 71932697 71932697 C T SNP FOLR2 ENST00000298223 human ensembl 74_37 +1 known missense c.659 p.A220V 0.991 NULL pfam_Folate_rcpt-like - no_errors FOLR2 HGNC ENSG00000165457 61 0 0 40 29 42.029 CLPB 0 genome.wustl.edu 37 11 72006671 72006671 + Missense_Mutation SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 11 72006671 72006671 C T SNP CLPB ENST00000294053 human ensembl 74_37 -1 known missense c.1441 p.G481R 1.000 pfam_ATPase_AAA-2,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,pfam_Sigma_54_int,superfamily_P-loop_NTPase,smart_AAA+_ATPase 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 32 0 0 12 6 33.3333 MYO7A 0 genome.wustl.edu 37 11 76905421 76905421 + Missense_Mutation SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 11 76905421 76905421 C T SNP MYO7A ENST00000409709 human ensembl 74_37 +1 known missense c.4175 p.A1392V 1.000 superfamily_FERM_central,smart_Band_41_domain,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 18 0 0 16 11 40.7407 ANKRD42 0 genome.wustl.edu 37 11 82951953 82951953 + Missense_Mutation SNP A A C TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 11 82951953 82951953 A C SNP ANKRD42 ENST00000393392 human ensembl 74_37 +1 known missense c.1088 p.D363A 0.986 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 ANKRD42 HGNC ENSG00000137494 72 0 0 68 21 23.5955 TYR 0 genome.wustl.edu 37 11 89028414 89028414 + Silent SNP C C A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 11 89028414 89028414 C A SNP TYR ENST00000263321 human ensembl 74_37 +1 known silent c.1470 p.A490 0.000 NULL pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase - no_errors TYR HGNC ENSG00000077498 41 0 0 18 11 37.931 FAT3 0 genome.wustl.edu 37 11 92086551 92086551 + Missense_Mutation SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 11 92086551 92086551 C T SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known missense c.1273 p.R425W 0.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 46 0 0 18 9 33.3333 GNPTAB 0 genome.wustl.edu 37 12 102154925 102154925 + Missense_Mutation SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 12 102154925 102154925 C T SNP GNPTAB ENST00000299314 human ensembl 74_37 -1 known missense c.3115 p.E1039K 0.998 pfscan_EF_hand_dom pfam_DMAP1-bd,pfam_Notch_dom,pfam_DUF3184,superfamily_Notch_dom,smart_Notch_dom,pfscan_EF_hand_dom,pfscan_Notch_dom - no_errors GNPTAB HGNC ENSG00000111670 41 0 0 33 21 38.8889 STAB2 0 genome.wustl.edu 37 12 104123939 104123939 + Missense_Mutation SNP A A G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 12 104123939 104123939 A G SNP STAB2 ENST00000388887 human ensembl 74_37 +1 known missense c.5128 p.I1710V 0.338 pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pfscan_FAS1_domain pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_FAS1_domain,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB2 HGNC ENSG00000136011 128 0 0 93 61 39.6104 BTBD11 0 genome.wustl.edu 37 12 108013807 108013807 + Missense_Mutation SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 12 108013807 108013807 G A SNP BTBD11 ENST00000280758 human ensembl 74_37 +1 known missense c.2497 p.A833T 0.994 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 27 0 0 14 9 39.1304 TAS2R7 0 genome.wustl.edu 37 12 10954759 10954759 + Silent SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 12 10954759 10954759 G A SNP TAS2R7 ENST00000240687 human ensembl 74_37 -1 known silent c.411 p.C137 0.000 pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors TAS2R7 HGNC ENSG00000121377 41 0 0 23 15 39.4737 MYO1H 0 genome.wustl.edu 37 12 109845646 109845646 + Silent SNP A A G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 12 109845646 109845646 A G SNP MYO1H ENST00000431443 human ensembl 74_37 +1 known silent c.1035 p.A345 0.001 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS - no_errors MYO1H HGNC ENSG00000174527 71 0 0 39 22 36.0656 MVK 0 genome.wustl.edu 37 12 110023886 110023886 + Missense_Mutation SNP T T A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 12 110023886 110023886 T A SNP MVK ENST00000228510 human ensembl 74_37 +1 known missense c.587 p.I196N 1.000 pfam_GHMP_kinase_N_dom,superfamily_Ribosomal_S5_D2-typ_fold,prints_Mevalonate/galactokinase,tigrfam_Mev_gal_kin pfam_GHMP_kinase_N_dom,pfam_GHMP_kinase_C_dom,superfamily_Ribosomal_S5_D2-typ_fold,prints_Mevalonate/galactokinase,prints_Galkinase,tigrfam_Mev_gal_kin - no_errors MVK HGNC ENSG00000110921 38 0 0 21 18 46.1538 DDX54 0 genome.wustl.edu 37 12 113617081 113617081 + Missense_Mutation SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 12 113617081 113617081 C T SNP DDX54 ENST00000314045 human ensembl 74_37 -1 known missense c.431 p.S144N 1.000 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_DBP10CT,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 DDX54 HGNC ENSG00000123064 30 0 0 16 7 30.4348 PRB1 0 genome.wustl.edu 37 12 11506168 11506168 + Missense_Mutation SNP T T C TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 12 11506168 11506168 T C SNP PRB1 ENST00000500254 human ensembl 74_37 -1 known missense c.470 p.N157S 0.003 NULL NULL - no_errors PRB1 HGNC ENSG00000251655 177 0 0 145 48 24.8705 KDM2B 0 genome.wustl.edu 37 12 121970842 121970842 + Missense_Mutation SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 12 121970842 121970842 G A SNP KDM2B ENST00000377071 human ensembl 74_37 -1 known missense c.800 p.T267M 1.000 pfam_JmjC_dom,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 61 0 0 37 31 45.5882 PITPNM2 0 genome.wustl.edu 37 12 123489928 123489928 + Missense_Mutation SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 12 123489928 123489928 C T SNP PITPNM2 ENST00000320201 human ensembl 74_37 -1 known missense c.811 p.V271I 0.000 NULL pfam_PI_transfer,pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD,prints_PI_transfer - no_errors PITPNM2 HGNC ENSG00000090975 94 0 0 60 34 36.1702 DNAH10 0 genome.wustl.edu 37 12 124371810 124371810 + Missense_Mutation SNP A A G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 12 124371810 124371810 A G SNP DNAH10 ENST00000409039 human ensembl 74_37 +1 known missense c.8591 p.H2864R 1.000 superfamily_P-loop_NTPase 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 27 0 0 16 14 46.6667 ATF7IP 0 genome.wustl.edu 37 12 14628902 14628902 + Missense_Mutation SNP G G T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 12 14628902 14628902 G T SNP ATF7IP ENST00000261168 human ensembl 74_37 +1 known missense c.2941 p.D981Y 1.000 NULL superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors ATF7IP HGNC ENSG00000171681 45 0 0 35 19 35.1852 SLCO1B3 0 genome.wustl.edu 37 12 21033817 21033817 + Missense_Mutation SNP G G C TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 12 21033817 21033817 G C SNP SLCO1B3 ENST00000553473 human ensembl 74_37 +1 known missense c.1360 p.V454L 0.414 pfam_OA_transporter,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 SLCO1B3 HGNC ENSG00000111700 105 0 0 58 36 38.2979 KRAS 0 genome.wustl.edu 37 12 25398281 25398281 + Missense_Mutation SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 12 25398281 25398281 C T SNP KRAS ENST00000256078 human ensembl 74_37 -1 known missense c.38 p.G13D 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 KRAS HGNC ENSG00000133703 27 0 0 14 6 30 TMTC1 0 genome.wustl.edu 37 12 29669328 29669328 + Missense_Mutation SNP T T C TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 12 29669328 29669328 T C SNP TMTC1 ENST00000256062 human ensembl 74_37 -1 known missense c.1937 p.Y646C 1.000 smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_1,pfam_TPR_2,pfam_DUF1736,pfam_PIK-rel_kinase_FAT,pfam_TPR-3,smart_HAT,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TMTC1 HGNC ENSG00000133687 79 0 0 75 25 25 CNTN1 0 genome.wustl.edu 37 12 41419075 41419075 + Missense_Mutation SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 12 41419075 41419075 G A SNP CNTN1 ENST00000347616 human ensembl 74_37 +1 known missense c.2647 p.A883T 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN1 HGNC ENSG00000018236 272 1 0.3663 197 35 15.0862 SENP1 0 genome.wustl.edu 37 12 48440804 48440804 + Missense_Mutation SNP T T G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 12 48440804 48440804 T G SNP SENP1 ENST00000004980 human ensembl 74_37 -1 known missense c.1733 p.E578A 1.000 pfam_Peptidase_C48,pfscan_Peptidase_C48 pfam_Peptidase_C48,pfscan_Peptidase_C48 - no_errors SENP1 HGNC ENSG00000079387 67 0 0 39 32 45.0704 KCNA6 0 genome.wustl.edu 37 12 4920572 4920572 + Silent SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 12 4920572 4920572 C T SNP KCNA6 ENST00000280684 human ensembl 74_37 +1 known silent c.1365 p.P455 0.000 pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl,prints_K_chnl_volt-dep_Kv pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.6,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA6 HGNC ENSG00000151079 84 0 0 43 22 33.8462 CACNB3 0 genome.wustl.edu 37 12 49220203 49220203 + Silent SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 12 49220203 49220203 C T SNP CACNB3 ENST00000301050 human ensembl 74_37 +1 known silent c.796 p.L266 1.000 pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,smart_GK/Ca_channel_bsu,prints_VDCC_L_bsu pfam_GK/Ca_channel_bsu,pfam_VDCC_L_bsu,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_GK/Ca_channel_bsu,prints_VDCC_L_bsu,prints_VDCC_L_b3su - no_errors CACNB3 HGNC ENSG00000167535 59 0 0 84 5 5.61798 KMT2D 0 genome.wustl.edu 37 12 49427944 49427944 + Missense_Mutation SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 12 49427944 49427944 G A SNP KMT2D ENST00000301067 human ensembl 74_37 -1 known missense c.10646 p.A3549V 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 92 0 0 70 16 18.6047 GALNT6 0 genome.wustl.edu 37 12 51773084 51773084 + Missense_Mutation SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 12 51773084 51773084 C T SNP GALNT6 ENST00000356317 human ensembl 74_37 -1 known missense c.482 p.R161Q 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 GALNT6 HGNC ENSG00000139629 40 0 0 19 5 20.8333 KRT6A 0 genome.wustl.edu 37 12 52885323 52885323 + Silent SNP C C A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 12 52885323 52885323 C A SNP KRT6A ENST00000330722 human ensembl 74_37 -1 known silent c.738 p.V246 0.948 pfam_IF,prints_Keratin_II pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT6A HGNC ENSG00000205420 98 0 0 47 23 32.8571 KRT78 0 genome.wustl.edu 37 12 53233614 53233614 + Missense_Mutation SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 12 53233614 53233614 C T SNP KRT78 ENST00000304620 human ensembl 74_37 -1 known missense c.1202 p.S401N 0.972 pfam_IF,superfamily_Prefoldin pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT78 HGNC ENSG00000170423 80 0 0 45 44 49.4382 ZNF740 0 genome.wustl.edu 37 12 53581418 53581418 + RNA SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 12 53581418 53581418 C T SNP ZNF740 ENST00000551514 human ensembl 74_37 +1 putative rna NULL NULL 0.015 - - - no_errors ZNF740 HGNC ENSG00000139651 15 0 0 4 4 50 TIMELESS 0 genome.wustl.edu 37 12 56818681 56818681 + Missense_Mutation SNP A A G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 12 56818681 56818681 A G SNP TIMELESS ENST00000553532 human ensembl 74_37 -1 known missense c.1733 p.M578T 0.000 NULL pfam_TIMELESS_C,pfam_Timeless - no_errors TIMELESS HGNC ENSG00000111602 77 0 0 45 27 37.5 LRP1 0 genome.wustl.edu 37 12 57579622 57579622 + Missense_Mutation SNP A A G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 12 57579622 57579622 A G SNP LRP1 ENST00000243077 human ensembl 74_37 +1 known missense c.6772 p.S2258G 1.000 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 42 0 0 20 18 47.3684 NCAPD2 0 genome.wustl.edu 37 12 6631158 6631158 + Missense_Mutation SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 12 6631158 6631158 G A SNP NCAPD2 ENST00000315579 human ensembl 74_37 +1 known missense c.1909 p.A637T 1.000 superfamily_ARM-type_fold,pirsf_Condensin_cplx_su1 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_Condensin_cplx_su1 - no_errors NCAPD2 HGNC ENSG00000010292 82 0 0 60 37 38.1443 BEST3 0 genome.wustl.edu 37 12 70049234 70049234 + Missense_Mutation SNP T T G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 12 70049234 70049234 T G SNP BEST3 ENST00000330891 human ensembl 74_37 -1 known missense c.1460 p.Q487P 0.988 NULL pfam_Bestrophin/UPF0187 - no_errors BEST3 HGNC ENSG00000127325 131 0 0 125 8 6.01504 CLSTN3 0 genome.wustl.edu 37 12 7286179 7286179 + Silent SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 12 7286179 7286179 C T SNP CLSTN3 ENST00000266546 human ensembl 74_37 +1 known silent c.198 p.C66 0.990 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CLSTN3 HGNC ENSG00000139182 54 0 0 26 24 48 KCNC2 0 genome.wustl.edu 37 12 75601370 75601370 + Missense_Mutation SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 12 75601370 75601370 G A SNP KCNC2 ENST00000549446 human ensembl 74_37 -1 known missense c.394 p.P132S 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,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_Kv - no_errors KCNC2 HGNC ENSG00000166006 20 0 0 17 10 37.037 ALX1 0 genome.wustl.edu 37 12 85674056 85674056 + Missense_Mutation SNP A A G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 12 85674056 85674056 A G SNP ALX1 ENST00000316824 human ensembl 74_37 +1 known missense c.17 p.E6G 1.000 NULL pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_OAR_dom,pfscan_Homeobox_dom - no_errors ALX1 HGNC ENSG00000180318 83 0 0 81 6 6.89655 CLEC4D 0 genome.wustl.edu 37 12 8673741 8673741 + Silent SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 12 8673741 8673741 C T SNP CLEC4D ENST00000299665 human ensembl 74_37 +1 known silent c.522 p.P174 0.096 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII - no_errors CLEC4D HGNC ENSG00000166527 71 0 0 50 23 31.5068 CCDC41 0 genome.wustl.edu 37 12 94769791 94769791 + Silent SNP A A G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 12 94769791 94769791 A G SNP CCDC41 ENST00000339839 human ensembl 74_37 -1 known silent c.804 p.A268 1.000 NULL NULL - no_errors CCDC41 HGNC ENSG00000173588 17 0 0 4 13 76.4706 APAF1 0 genome.wustl.edu 37 12 99121028 99121028 + Silent SNP C C A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 12 99121028 99121028 C A SNP APAF1 ENST00000551964 human ensembl 74_37 +1 known silent c.3534 p.G1178 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Apoptotic_pept-activating_1,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_NB-ARC,pfam_CARD,superfamily_WD40_repeat_dom,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pirsf_Apoptotic_pept-activating_1,pfscan_CARD,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Disease_R,prints_G-protein_beta_WD-40_rep - no_errors APAF1 HGNC ENSG00000120868 119 0 0 52 25 32.4675 TMTC4 0 genome.wustl.edu 37 13 101278337 101278337 + Missense_Mutation SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 13 101278337 101278337 C T SNP TMTC4 ENST00000342624 human ensembl 74_37 -1 known missense c.1574 p.R525Q 1.000 pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_1,pfam_DUF1736,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TMTC4 HGNC ENSG00000125247 75 0 0 68 22 24.4444 PDX1 0 genome.wustl.edu 37 13 28498612 28498612 + Missense_Mutation SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 13 28498612 28498612 G A SNP PDX1 ENST00000381033 human ensembl 74_37 +1 known missense c.626 p.R209H 0.997 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_Homeobox_antennapedia - no_errors PDX1 HGNC ENSG00000139515 19 0 0 16 14 46.6667 NBEA 0 genome.wustl.edu 37 13 36006531 36006531 + Splice_Site SNP G G C TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 13 36006531 36006531 G C SNP NBEA ENST00000310336 human ensembl 74_37 +1 known splice_site c.6304+1 e39+1 1.000 - - - no_errors NBEA HGNC ENSG00000172915 27 0 0 53 4 7.01754 ELF1 0 genome.wustl.edu 37 13 41533046 41533046 + Missense_Mutation SNP A A G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 13 41533046 41533046 A G SNP ELF1 ENST00000239882 human ensembl 74_37 -1 known missense c.179 p.M60T 1.000 pfam_TF_Elf_N pfam_TF_Elf_N,pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ELF1 HGNC ENSG00000120690 109 0 0 118 55 31.7919 MTRF1 0 genome.wustl.edu 37 13 41797467 41797467 + Silent SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 13 41797467 41797467 C T SNP MTRF1 ENST00000430347 human ensembl 74_37 -1 known silent c.1188 p.E396 1.000 pfam_Pep_chain_release_fac_I_II pfam_Pep_chain_release_fac_I_II,pfam_PCRF,smart_PCRF - no_errors MTRF1 HGNC ENSG00000120662 151 0 0 143 85 37.2807 SPERT 0 genome.wustl.edu 37 13 46287863 46287863 + Missense_Mutation SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 13 46287863 46287863 G A SNP SPERT ENST00000310521 human ensembl 74_37 +1 known missense c.703 p.A235T 0.000 NULL NULL - no_errors SPERT HGNC ENSG00000174015 18 0 0 26 12 31.5789 KPNA3 0 genome.wustl.edu 37 13 50296149 50296149 + Missense_Mutation SNP A A G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 13 50296149 50296149 A G SNP KPNA3 ENST00000261667 human ensembl 74_37 -1 known missense c.668 p.V223A 1.000 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 KPNA3 HGNC ENSG00000102753 76 0 0 93 26 21.8487 SERPINE3 0 genome.wustl.edu 37 13 51922396 51922396 + Missense_Mutation SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 13 51922396 51922396 C T SNP SERPINE3 ENST00000521255 human ensembl 74_37 +1 known missense c.748 p.P250S 1.000 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINE3 HGNC ENSG00000253309 19 0 0 9 9 50 PCDH17 0 genome.wustl.edu 37 13 58206969 58206969 + Missense_Mutation SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 13 58206969 58206969 C T SNP PCDH17 ENST00000377918 human ensembl 74_37 +1 known missense c.289 p.R97C 1.000 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH17 HGNC ENSG00000118946 32 0 0 23 12 34.2857 EDNRB 0 genome.wustl.edu 37 13 78492678 78492678 + Missense_Mutation SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 13 78492678 78492678 C T SNP EDNRB ENST00000334286 human ensembl 74_37 -1 known missense c.31 p.A11T 0.288 prints_ETB_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ETB_rcpt,prints_Endthln_rcpt,prints_GPCR_Rhodpsn,prints_Bombsn_rcpt - no_errors EDNRB HGNC ENSG00000136160 31 0 0 36 5 12.1951 EDNRB 0 genome.wustl.edu 37 13 78493632 78493632 + Missense_Mutation SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 13 78493632 78493632 G A SNP EDNRB ENST00000377211 human ensembl 74_37 -1 putative missense c.119 p.A40V 0.992 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ETB_rcpt,prints_Endthln_rcpt,prints_GPCR_Rhodpsn,prints_Bombsn_rcpt - no_errors EDNRB HGNC ENSG00000136160 33 0 0 33 9 21.4286 DOCK9 0 genome.wustl.edu 37 13 99505739 99505739 + Missense_Mutation SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 13 99505739 99505739 C T SNP DOCK9 ENST00000339416 human ensembl 74_37 -1 known missense c.3872 p.R1291H 1.000 superfamily_ARM-type_fold pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK9 HGNC ENSG00000088387 207 0 0 233 77 24.8387 UBAC2 0 genome.wustl.edu 37 13 99966475 99966475 + Splice_Site SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 13 99966475 99966475 G A SNP UBAC2 ENST00000376440 human ensembl 74_37 +1 known splice_site c.408+1 e3+1 1.000 - - - no_errors UBAC2 HGNC ENSG00000134882 106 0 0 149 8 5.09554 ADSSL1 0 genome.wustl.edu 37 14 105208323 105208323 + Missense_Mutation SNP C C A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 14 105208323 105208323 C A SNP ADSSL1 ENST00000332972 human ensembl 74_37 +1 known missense c.1061 p.P354H 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 ADSSL1 HGNC ENSG00000185100 71 0 0 57 41 41.8367 OR4Q3 0 genome.wustl.edu 37 14 20215981 20215981 + Missense_Mutation SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 14 20215981 20215981 G A SNP OR4Q3 ENST00000331723 human ensembl 74_37 +1 known missense c.395 p.R132H 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 OR4Q3 HGNC ENSG00000182652 155 0 0 116 19 14.0741 OR4M1 0 genome.wustl.edu 37 14 20248625 20248625 + Silent SNP C C A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 14 20248625 20248625 C A SNP OR4M1 ENST00000315957 human ensembl 74_37 +1 known silent c.144 p.T48 0.472 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 OR4M1 HGNC ENSG00000176299 583 1 0.171233 455 87 16.0517 OR4L1 0 genome.wustl.edu 37 14 20529031 20529031 + Silent SNP A A T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 14 20529031 20529031 A T SNP OR4L1 ENST00000315683 human ensembl 74_37 +1 known silent c.828 p.T276 0.981 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR4L1 HGNC ENSG00000176246 99 0 0 63 51 44.7368 ANG 0 genome.wustl.edu 37 14 21162101 21162101 + Silent SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 14 21162101 21162101 C T SNP ANG ENST00000336811 human ensembl 74_37 +1 known silent c.378 p.N126 0.000 pfam_RNaseA_domain,superfamily_RNaseA_domain,smart_RNaseA_domain,prints_RNaseA pfam_RNaseA_domain,superfamily_RNaseA_domain,smart_RNaseA_domain,prints_RNaseA - no_errors ANG HGNC ENSG00000214274 115 0 0 55 40 42.1053 RNASE1 0 genome.wustl.edu 37 14 21270141 21270141 + Silent SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 14 21270141 21270141 C T SNP RNASE1 ENST00000340900 human ensembl 74_37 -1 known silent c.87 p.K29 0.077 superfamily_RNaseA_domain,smart_RNaseA_domain pfam_RNaseA_domain,superfamily_RNaseA_domain,smart_RNaseA_domain,prints_RNaseA - no_errors RNASE1 HGNC ENSG00000129538 31 0 0 15 14 48.2759 CDH24 0 genome.wustl.edu 37 14 23517497 23517497 + Missense_Mutation SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 14 23517497 23517497 C T SNP CDH24 ENST00000267383 human ensembl 74_37 -1 known missense c.2152 p.A718T 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 21 0 0 11 6 35.2941 BCL2L2 0 genome.wustl.edu 37 14 23777209 23777209 + Missense_Mutation SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 14 23777209 23777209 G A SNP BCL2L2 ENST00000250405 human ensembl 74_37 +1 known missense c.233 p.R78H 1.000 pfam_Blc2_fam,pfscan_Bcl2-like,prints_Apop_reg_BclW 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 49 0 0 43 4 8.51064 PCK2 0 genome.wustl.edu 37 14 24572069 24572069 + Missense_Mutation SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 14 24572069 24572069 G A SNP PCK2 ENST00000216780 human ensembl 74_37 +1 known missense c.1342 p.A448T 1.000 pfam_PEP_carboxykinase_GTP,pirsf_PEP_carboxykinase_GTP pfam_PEP_carboxykinase_GTP,superfamily_PEP_carboxykinase_N,pirsf_PEP_carboxykinase_GTP - no_errors PCK2 HGNC ENSG00000100889 108 0 0 59 32 35.1648 TGM1 0 genome.wustl.edu 37 14 24727798 24727798 + Missense_Mutation SNP T T C TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 14 24727798 24727798 T C SNP TGM1 ENST00000206765 human ensembl 74_37 -1 known missense c.1241 p.D414G 1.000 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 TGM1 HGNC ENSG00000092295 62 0 0 37 28 43.0769 SCFD1 0 genome.wustl.edu 37 14 31188570 31188570 + Missense_Mutation SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 14 31188570 31188570 C T SNP SCFD1 ENST00000458591 human ensembl 74_37 +1 known missense c.1723 p.R575W 0.965 pfam_Sec1-like,superfamily_Sec1-like pfam_Sec1-like,superfamily_Sec1-like - no_errors SCFD1 HGNC ENSG00000092108 83 0 0 64 39 37.8641 AKAP6 0 genome.wustl.edu 37 14 33015700 33015700 + Missense_Mutation SNP T T C TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 14 33015700 33015700 T C SNP AKAP6 ENST00000280979 human ensembl 74_37 +1 known missense c.1841 p.V614A 0.002 NULL smart_Spectrin/alpha-actinin - no_errors AKAP6 HGNC ENSG00000151320 99 0 0 62 46 42.5926 SEC23A 0 genome.wustl.edu 37 14 39514489 39514489 + Missense_Mutation SNP A A G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 14 39514489 39514489 A G SNP SEC23A ENST00000307712 human ensembl 74_37 -1 known missense c.1777 p.F593L 1.000 pfam_Sec23/24_helical_dom,superfamily_Sec23/24_helical_dom 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 SEC23A HGNC ENSG00000100934 47 0 0 56 3 5.08475 TBPL2 0 genome.wustl.edu 37 14 55900349 55900349 + Missense_Mutation SNP T T C TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 14 55900349 55900349 T C SNP TBPL2 ENST00000247219 human ensembl 74_37 -1 known missense c.787 p.S263G 1.000 pfam_TBP,prints_TBP pfam_TBP,prints_TBP - no_errors TBPL2 HGNC ENSG00000182521 96 0 0 73 58 44.2748 C14orf105 0 genome.wustl.edu 37 14 57938138 57938138 + Missense_Mutation SNP G G C TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 14 57938138 57938138 G C SNP C14orf105 ENST00000216445 human ensembl 74_37 -1 known missense c.826 p.R276G 0.014 NULL NULL - no_errors C14orf105 HGNC ENSG00000100557 71 0 0 44 17 27.8689 WDR89 0 genome.wustl.edu 37 14 64065892 64065892 + Missense_Mutation SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 14 64065892 64065892 G A SNP WDR89 ENST00000267522 human ensembl 74_37 -1 known missense c.769 p.R257C 0.090 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR89 HGNC ENSG00000140006 135 0 0 85 56 39.7163 ACTN1 0 genome.wustl.edu 37 14 69358881 69358881 + Silent SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 14 69358881 69358881 C T SNP ACTN1 ENST00000394419 human ensembl 74_37 -1 known silent c.975 p.P325 0.916 pfam_Spectrin_repeat pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors ACTN1 HGNC ENSG00000072110 53 0 0 61 7 10.2941 VRTN 0 genome.wustl.edu 37 14 74824119 74824119 + Silent SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 14 74824119 74824119 C T SNP VRTN ENST00000256362 human ensembl 74_37 +1 known silent c.633 p.C211 0.010 NULL pfam_Transposase_8 - no_errors VRTN HGNC ENSG00000133980 59 0 0 18 21 53.8462 NRXN3 0 genome.wustl.edu 37 14 80319917 80319917 + Missense_Mutation SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 14 80319917 80319917 G A SNP NRXN3 ENST00000554738 human ensembl 74_37 +1 known missense c.4105 p.A1369T 1.000 NULL pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN3 HGNC ENSG00000021645 161 0 0 103 90 46.6321 PSMC1 0 genome.wustl.edu 37 14 90735804 90735804 + Missense_Mutation SNP G G C TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 14 90735804 90735804 G C SNP PSMC1 ENST00000261303 human ensembl 74_37 +1 known missense c.945 p.Q315H 1.000 pfam_ATPase_AAA_core,pfam_ATPase_AAA-2,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_26S_Psome_P45 pfam_ATPase_AAA_core,pfam_ATPase_AAA-2,pfam_DUF815,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_26S_Psome_P45 - no_errors PSMC1 HGNC ENSG00000100764 105 0 0 61 39 39 ASB2 0 genome.wustl.edu 37 14 94413763 94413763 + Silent SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 14 94413763 94413763 G A SNP ASB2 ENST00000315988 human ensembl 74_37 -1 known silent c.840 p.A280 0.882 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt 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 ASB2 HGNC ENSG00000100628 53 0 0 44 29 39.726 MAGEL2 0 genome.wustl.edu 37 15 23890722 23890722 + Missense_Mutation SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 15 23890722 23890722 G A SNP MAGEL2 ENST00000532292 human ensembl 74_37 -1 known missense c.359 p.A120V 0.613 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEL2 HGNC ENSG00000254585 22 0 0 6 4 40 NPAP1 0 genome.wustl.edu 37 15 24923624 24923624 + Missense_Mutation SNP A A C TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 15 24923624 24923624 A C SNP NPAP1 ENST00000329468 human ensembl 74_37 +1 known missense c.2610 p.Q870H 0.000 NULL NULL - no_errors NPAP1 HGNC ENSG00000185823 117 0 0 47 41 46.5909 OTUD7A 0 genome.wustl.edu 37 15 31776530 31776530 + Missense_Mutation SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 15 31776530 31776530 G A SNP OTUD7A ENST00000382902 human ensembl 74_37 -1 known missense c.1769 p.P590L 1.000 NULL pfam_OTU,superfamily_UBA-like,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20 - no_errors OTUD7A HGNC ENSG00000169918 10 0 0 2 5 71.4286 FMN1 0 genome.wustl.edu 37 15 33358802 33358802 + Silent SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 15 33358802 33358802 C T SNP FMN1 ENST00000334528 human ensembl 74_37 -1 known silent c.1284 p.K428 1.000 NULL pfam_FH2_Formin,smart_FH2_Formin,prints_Formin_Cappuccino_subfam - no_errors FMN1 HGNC ENSG00000248905 44 0 0 25 11 30.5556 CSNK1A1P1 0 genome.wustl.edu 37 15 37109995 37109995 + RNA SNP A A C TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 15 37109995 37109995 A C SNP CSNK1A1P1 ENST00000430593 human ensembl 74_37 -1 known rna NULL NULL 0.985 - - - no_errors CSNK1A1P1 HGNC ENSG00000223518 46 0 0 33 16 32.6531 TGM5 0 genome.wustl.edu 37 15 43545709 43545709 + Missense_Mutation SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 15 43545709 43545709 C T SNP TGM5 ENST00000220420 human ensembl 74_37 -1 known missense c.679 p.A227T 1.000 NULL pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM5 HGNC ENSG00000104055 44 0 0 35 10 22.2222 RNF111 0 genome.wustl.edu 37 15 59359012 59359012 + Silent SNP T T C TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 15 59359012 59359012 T C SNP RNF111 ENST00000434298 human ensembl 74_37 +1 known silent c.1416 p.P472 0.994 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF111 HGNC ENSG00000157450 92 0 0 47 44 48.3516 RNF111 0 genome.wustl.edu 37 15 59373146 59373146 + Missense_Mutation SNP A A G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 15 59373146 59373146 A G SNP RNF111 ENST00000434298 human ensembl 74_37 +1 known missense c.1960 p.T654A 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF111 HGNC ENSG00000157450 123 0 0 72 50 40.9836 HERC1 0 genome.wustl.edu 37 15 63904497 63904497 + Missense_Mutation SNP T T C TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 15 63904497 63904497 T C SNP HERC1 ENST00000443617 human ensembl 74_37 -1 known missense c.14353 p.N4785D 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT 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 42 0 0 25 12 32.4324 FAM96A 0 genome.wustl.edu 37 15 64373351 64373351 + Splice_Site SNP C C A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 15 64373351 64373351 C A SNP FAM96A ENST00000300030 human ensembl 74_37 -1 known splice_site c.290-1 e3-1 1.000 - - - no_errors FAM96A HGNC ENSG00000166797 57 0 0 43 24 35.8209 CYP11A1 0 genome.wustl.edu 37 15 74640300 74640300 + Silent SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 15 74640300 74640300 G A SNP CYP11A1 ENST00000268053 human ensembl 74_37 -1 known silent c.366 p.L122 0.003 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_mitochondrial,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP11A1 HGNC ENSG00000140459 52 0 0 32 14 30.4348 LOC645752 0 genome.wustl.edu 37 15 78219129 78219129 + RNA SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 15 78219129 78219129 C T SNP LOC645752 ENST00000567226 human ensembl 74_37 -1 known rna NULL NULL 0.990 - - - no_errors RP11-114H24.2 Clone_based_vega_gene ENSG00000260776 56 0 0 43 15 25.8621 AP3B2 0 genome.wustl.edu 37 15 83333197 83333197 + Missense_Mutation SNP C C A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 15 83333197 83333197 C A SNP AP3B2 ENST00000261722 human ensembl 74_37 -1 known missense c.2126 p.S709I 1.000 pirsf_AP3_beta pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,pirsf_AP3_beta - no_errors AP3B2 HGNC ENSG00000103723 38 0 0 16 26 61.9048 BLM 0 genome.wustl.edu 37 15 91295092 91295092 + Missense_Mutation SNP A A G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 15 91295092 91295092 A G SNP BLM ENST00000355112 human ensembl 74_37 +1 known missense c.875 p.D292G 0.001 NULL pfam_RQC_domain,pfam_BDHCT,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_HRDC_dom,superfamily_P-loop_NTPase,superfamily_HRDC-like,smart_Helicase_ATP-bd,smart_Helicase_C,smart_RQC_domain,smart_HRDC_dom,pfscan_HRDC_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors BLM HGNC ENSG00000197299 73 0 0 71 7 8.97436 TELO2 0 genome.wustl.edu 37 16 1556268 1556268 + Silent SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 16 1556268 1556268 C T SNP TELO2 ENST00000262319 human ensembl 74_37 +1 known silent c.2064 p.S688 0.716 NULL pfam_Telomere_length_regulation_dom,superfamily_ARM-type_fold - no_errors TELO2 HGNC ENSG00000100726 39 0 0 20 13 39.3939 ITPRIPL2 0 genome.wustl.edu 37 16 19127146 19127146 + Missense_Mutation SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 16 19127146 19127146 G A SNP ITPRIPL2 ENST00000381440 human ensembl 74_37 +1 known missense c.1363 p.V455I 0.908 NULL NULL - no_errors ITPRIPL2 HGNC ENSG00000205730 81 0 0 35 24 40.678 PKD1 0 genome.wustl.edu 37 16 2158763 2158763 + Silent SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 16 2158763 2158763 C T SNP PKD1 ENST00000262304 human ensembl 74_37 -1 known silent c.6405 p.A2135 0.888 superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_PKD_dom,tigrfam_Polycystin_cat 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 10 0 0 1 3 75 PLK1 0 genome.wustl.edu 37 16 23695383 23695383 + Missense_Mutation SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 16 23695383 23695383 C T SNP PLK1 ENST00000300093 human ensembl 74_37 +1 known missense c.1009 p.R337W 1.000 NULL pfam_Prot_kinase_dom,pfam_POLO_box_duplicated_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_POLO_box_duplicated_dom,pfscan_Prot_kinase_dom - no_errors PLK1 HGNC ENSG00000166851 142 0 0 94 33 25.9843 AQP8 0 genome.wustl.edu 37 16 25228660 25228660 + Missense_Mutation SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 16 25228660 25228660 G A SNP AQP8 ENST00000219660 human ensembl 74_37 +1 known missense c.154 p.G52R 1.000 pfam_MIP,superfamily_Aquaporin-like,prints_MIP pfam_MIP,superfamily_Aquaporin-like,prints_Aquaporin_8,prints_MIP - no_errors AQP8 HGNC ENSG00000103375 142 0 0 148 8 5.12821 KIAA0556 0 genome.wustl.edu 37 16 27709693 27709693 + Missense_Mutation SNP A A C TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 16 27709693 27709693 A C SNP KIAA0556 ENST00000261588 human ensembl 74_37 +1 known missense c.985 p.T329P 0.013 NULL superfamily_Thaumatin - no_errors KIAA0556 HGNC ENSG00000047578 127 0 0 118 7 5.6 TAOK2 0 genome.wustl.edu 37 16 29997132 29997132 + Missense_Mutation SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 16 29997132 29997132 C T SNP TAOK2 ENST00000308893 human ensembl 74_37 +1 known missense c.1942 p.R648C 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 TAOK2 HGNC ENSG00000149930 23 0 0 12 11 47.8261 ZNF768 0 genome.wustl.edu 37 16 30536832 30536832 + Missense_Mutation SNP A A G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 16 30536832 30536832 A G SNP ZNF768 ENST00000380412 human ensembl 74_37 -1 known missense c.629 p.L210P 0.668 NULL pfam_Znf_C2H2,pfam_RNA_pol_II_repeat_euk,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF768 HGNC ENSG00000169957 89 0 0 57 42 42.4242 PHKG2 0 genome.wustl.edu 37 16 30768297 30768297 + Missense_Mutation SNP A A G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 16 30768297 30768297 A G SNP PHKG2 ENST00000563588 human ensembl 74_37 +1 known missense c.1100 p.Q367R 1.000 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 88 0 0 56 43 43.4343 ZSCAN10 0 genome.wustl.edu 37 16 3142748 3142748 + Missense_Mutation SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 16 3142748 3142748 C T SNP ZSCAN10 ENST00000252463 human ensembl 74_37 -1 known missense c.26 p.R9Q 0.867 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN10 HGNC ENSG00000130182 17 0 0 10 10 50 ZNF205 0 genome.wustl.edu 37 16 3170075 3170075 + Missense_Mutation SNP G G T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 16 3170075 3170075 G T SNP ZNF205 ENST00000219091 human ensembl 74_37 +1 known missense c.1414 p.G472C 0.965 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 ZNF205 HGNC ENSG00000122386 60 0 0 41 28 40.5797 ENSG00000261711 0 genome.wustl.edu 37 16 34713688 34713688 + RNA SNP T T A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 16 34713688 34713688 T A SNP ENSG00000261711 ENST00000564452 human ensembl 74_37 -1 known rna NULL NULL 0.004 - - - no_errors RP11-80F22.9 Clone_based_vega_gene ENSG00000261711 20 0 0 20 6 23.0769 ABCC11 0 genome.wustl.edu 37 16 48239399 48239399 + Missense_Mutation SNP A A G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 16 48239399 48239399 A G SNP ABCC11 ENST00000356608 human ensembl 74_37 -1 known missense c.1730 p.V577A 1.000 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,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 ABCC11 HGNC ENSG00000121270 89 0 0 46 23 33.3333 ADCY7 0 genome.wustl.edu 37 16 50326687 50326687 + Missense_Mutation SNP T T C TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 16 50326687 50326687 T C SNP ADCY7 ENST00000254235 human ensembl 74_37 +1 known missense c.638 p.V213A 0.004 NULL pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY7 HGNC ENSG00000121281 69 0 0 47 6 11.3208 IRX3 0 genome.wustl.edu 37 16 54318975 54318975 + Missense_Mutation SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 16 54318975 54318975 G A SNP IRX3 ENST00000329734 human ensembl 74_37 -1 known missense c.818 p.A273V 0.002 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom - no_errors IRX3 HGNC ENSG00000177508 10 0 0 9 4 30.7692 LPCAT2 0 genome.wustl.edu 37 16 55583231 55583231 + Silent SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 16 55583231 55583231 C T SNP LPCAT2 ENST00000262134 human ensembl 74_37 +1 known silent c.978 p.C326 1.000 NULL pfam_EF_hand_dom,pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin - no_errors LPCAT2 HGNC ENSG00000087253 90 0 0 86 12 12.2449 LPCAT2 0 genome.wustl.edu 37 16 55584911 55584911 + Missense_Mutation SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 16 55584911 55584911 C T SNP LPCAT2 ENST00000262134 human ensembl 74_37 +1 known missense c.1112 p.A371V 1.000 NULL pfam_EF_hand_dom,pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin - no_errors LPCAT2 HGNC ENSG00000087253 78 0 0 42 26 38.2353 CES1 0 genome.wustl.edu 37 16 55850858 55850858 + Missense_Mutation SNP T T A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 16 55850858 55850858 T A SNP CES1 ENST00000360526 human ensembl 74_37 -1 known missense c.923 p.D308V 0.058 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CES1 HGNC ENSG00000198848 183 0 0 138 63 31.3433 CAPN15 0 genome.wustl.edu 37 16 603483 603483 + Missense_Mutation SNP G G T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 16 603483 603483 G T SNP CAPN15 ENST00000219611 human ensembl 74_37 +1 known missense c.3228 p.E1076D 1.000 NULL pfam_Peptidase_C2_calpain_cat,pfam_Znf_RanBP2,smart_Znf_RanBP2,smart_Peptidase_C2_calpain_cat,pfscan_Znf_RanBP2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN15 HGNC ENSG00000103326 25 0 0 15 10 40 CDH8 0 genome.wustl.edu 37 16 61935209 61935209 + Missense_Mutation SNP A A G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 16 61935209 61935209 A G SNP CDH8 ENST00000577390 human ensembl 74_37 -1 known missense c.421 p.W141R 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH8 HGNC ENSG00000150394 86 0 0 49 24 32.8767 PSKH1 0 genome.wustl.edu 37 16 67942865 67942865 + Silent SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 16 67942865 67942865 G A SNP PSKH1 ENST00000291041 human ensembl 74_37 +1 known silent c.213 p.T71 0.931 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 PSKH1 HGNC ENSG00000159792 29 0 0 16 11 40.7407 SLC12A4 0 genome.wustl.edu 37 16 67986246 67986246 + Missense_Mutation SNP A A G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 16 67986246 67986246 A G SNP SLC12A4 ENST00000422611 human ensembl 74_37 -1 known missense c.764 p.V255A 0.909 pfam_AA-permease/SLC12A_dom,tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,pfam_K/Cl_cotranspt_1/3,prints_KCL_cotranspt,prints_K/Cl_cotranspt1,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A4 HGNC ENSG00000124067 109 0 0 76 46 37.7049 PLA2G15 0 genome.wustl.edu 37 16 68293549 68293549 + Missense_Mutation SNP C C A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 16 68293549 68293549 C A SNP PLA2G15 ENST00000219345 human ensembl 74_37 +1 known missense c.1228 p.L410I 0.989 NULL pfam_LACT/PDAT_acylTrfase - no_errors PLA2G15 HGNC ENSG00000103066 48 0 0 22 22 50 DDX19A 0 genome.wustl.edu 37 16 70395364 70395364 + Silent SNP C C A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 16 70395364 70395364 C A SNP DDX19A ENST00000302243 human ensembl 74_37 +1 known silent c.337 p.R113 1.000 smart_Helicase_ATP-bd,pfscan_RNA_helicase_DEAD_Q_motif 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 DDX19A HGNC ENSG00000168872 73 0 0 61 30 32.967 ENSG00000262528 0 genome.wustl.edu 37 16 705158 705158 + RNA SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 16 705158 705158 C T SNP ENSG00000262528 ENST00000573609 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors LA16c-349E10.1 Clone_based_vega_gene ENSG00000262528 48 0 0 22 21 48.8372 HYDIN 0 genome.wustl.edu 37 16 70843797 70843797 + Silent SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 16 70843797 70843797 C T SNP HYDIN ENST00000393567 human ensembl 74_37 -1 putative silent c.14772 p.T4924 0.001 NULL superfamily_P-loop_NTPase,superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 417 0 0 259 158 37.8897 TAT 0 genome.wustl.edu 37 16 71610203 71610203 + Missense_Mutation SNP G G T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 16 71610203 71610203 G T SNP TAT ENST00000355962 human ensembl 74_37 -1 known missense c.116 p.A39D 1.000 pfam_Tyr_aminoTrfase_ubiquitination,superfamily_PyrdxlP-dep_Trfase,pirsf_Tyrosine_transaminase pfam_Aminotransferase_I/II,pfam_Tyr_aminoTrfase_ubiquitination,pfam_ArAA_b-elim_lyase/Thr_aldolase,pfam_Aminotrans_V/Cys_dSase,pfam_DegT/StrS_aminotransferase,superfamily_PyrdxlP-dep_Trfase,pirsf_Tyrosine_transaminase,tigrfam_Tyrosine_aminoTrfase,tigrfam_TyrNic_aminoTrfase - no_errors TAT HGNC ENSG00000198650 70 0 0 49 32 39.5062 ZNF821 0 genome.wustl.edu 37 16 71894307 71894307 + Missense_Mutation SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 16 71894307 71894307 G A SNP ZNF821 ENST00000425432 human ensembl 74_37 -1 known missense c.853 p.R285W 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF821 HGNC ENSG00000102984 45 0 0 26 21 44.6809 MLKL 0 genome.wustl.edu 37 16 74729294 74729294 + Missense_Mutation SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 16 74729294 74729294 C T SNP MLKL ENST00000308807 human ensembl 74_37 -1 known missense c.362 p.R121H 0.000 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 108 0 0 51 48 48.4848 WDR59 0 genome.wustl.edu 37 16 74908279 74908279 + Missense_Mutation SNP T T C TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 16 74908279 74908279 T C SNP WDR59 ENST00000262144 human ensembl 74_37 -1 known missense c.2753 p.K918R 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_UBQ-conjugating_enzyme/RWD,smart_WD40_repeat,smart_RWD-domain,pfscan_RWD-domain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR59 HGNC ENSG00000103091 41 0 0 22 14 38.8889 ADAMTS18 0 genome.wustl.edu 37 16 77328919 77328919 + Silent SNP T T G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 16 77328919 77328919 T G SNP ADAMTS18 ENST00000282849 human ensembl 74_37 -1 known silent c.2907 p.A969 0.013 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt 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 40 0 0 37 22 37.2881 GSE1 0 genome.wustl.edu 37 16 85688453 85688453 + Missense_Mutation SNP A A G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 16 85688453 85688453 A G SNP GSE1 ENST00000253458 human ensembl 74_37 +1 known missense c.653 p.Y218C 1.000 NULL pfam_GSE-like - no_errors GSE1 HGNC ENSG00000131149 24 0 0 12 8 40 FBXO31 0 genome.wustl.edu 37 16 87367837 87367837 + Missense_Mutation SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 16 87367837 87367837 C T SNP FBXO31 ENST00000311635 human ensembl 74_37 -1 known missense c.1052 p.R351Q 1.000 NULL pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom - no_errors FBXO31 HGNC ENSG00000103264 55 0 0 39 18 31.5789 CTU2 0 genome.wustl.edu 37 16 88781126 88781126 + Missense_Mutation SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 16 88781126 88781126 G A SNP CTU2 ENST00000567949 human ensembl 74_37 +1 known missense c.1546 p.G516S 0.001 NULL pfam_Thiouridylase_cyt_su2 - no_errors CTU2 HGNC ENSG00000174177 11 0 0 10 4 28.5714 GRIN2A 0 genome.wustl.edu 37 16 9934585 9934585 + Missense_Mutation SNP A A C TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 16 9934585 9934585 A C SNP GRIN2A ENST00000330684 human ensembl 74_37 -1 known missense c.1570 p.F524V 1.000 pfam_SBP_bac_3,smart_Iontro_glu_rcpt 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 GRIN2A HGNC ENSG00000183454 85 0 0 70 12 14.6341 WDR81 0 genome.wustl.edu 37 17 1634162 1634162 + Missense_Mutation SNP A A G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 17 1634162 1634162 A G SNP WDR81 ENST00000409644 human ensembl 74_37 +1 known missense c.3889 p.S1297G 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 40 0 0 35 16 31.3725 FLCN 0 genome.wustl.edu 37 17 17131329 17131329 + Missense_Mutation SNP C C A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 17 17131329 17131329 C A SNP FLCN ENST00000285071 human ensembl 74_37 -1 known missense c.123 p.Q41H 1.000 NULL pfam_Folliculin - no_errors FLCN HGNC ENSG00000154803 31 0 0 27 11 28.9474 LRRC48 0 genome.wustl.edu 37 17 17898358 17898358 + Missense_Mutation SNP A A G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 17 17898358 17898358 A G SNP LRRC48 ENST00000313838 human ensembl 74_37 +1 known missense c.757 p.M253V 1.000 NULL NULL - no_errors LRRC48 HGNC ENSG00000171962 59 0 0 56 4 6.66667 DRG2 0 genome.wustl.edu 37 17 18005286 18005286 + Nonsense_Mutation SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 17 18005286 18005286 C T SNP DRG2 ENST00000225729 human ensembl 74_37 +1 known nonsense c.781 p.R261* 0.469 superfamily_P-loop_NTPase pfam_TGS,pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,superfamily_P-loop_NTPase,superfamily_TGS-like,prints_GTP_binding_domain,tigrfam_Small_GTP-bd_dom - no_errors DRG2 HGNC ENSG00000108591 14 0 0 15 4 21.0526 FBXW10 0 genome.wustl.edu 37 17 18653319 18653319 + Missense_Mutation SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 17 18653319 18653319 C T SNP FBXW10 ENST00000308799 human ensembl 74_37 +1 known missense c.955 p.P319S 0.113 superfamily_F-box_dom 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 FBXW10 HGNC ENSG00000171931 102 0 0 115 18 13.5338 USP22 0 genome.wustl.edu 37 17 20907606 20907606 + Missense_Mutation SNP T T G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 17 20907606 20907606 T G SNP USP22 ENST00000261497 human ensembl 74_37 -1 known missense c.1444 p.S482R 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP22 HGNC ENSG00000124422 86 0 0 37 23 38.3333 MAP2K3 0 genome.wustl.edu 37 17 21208376 21208376 + Missense_Mutation SNP A A C TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 17 21208376 21208376 A C SNP MAP2K3 ENST00000342679 human ensembl 74_37 +1 known missense c.710 p.N237T 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 MAP2K3 HGNC ENSG00000034152 194 0 0 133 23 14.7436 SMG6 0 genome.wustl.edu 37 17 2200545 2200545 + Missense_Mutation SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 17 2200545 2200545 G A SNP SMG6 ENST00000263073 human ensembl 74_37 -1 known missense c.2143 p.R715C 1.000 pfam_EST1 pfam_EST1,smart_PIN_dom - no_errors SMG6 HGNC ENSG00000070366 87 0 0 46 36 43.9024 KSR1 0 genome.wustl.edu 37 17 25909717 25909717 + Missense_Mutation SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 17 25909717 25909717 G A SNP KSR1 ENST00000319524 human ensembl 74_37 +1 known missense c.566 p.R189Q 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors KSR1 HGNC ENSG00000141068 38 0 0 10 8 44.4444 SLC13A2 0 genome.wustl.edu 37 17 26821457 26821457 + Missense_Mutation SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 17 26821457 26821457 C T SNP SLC13A2 ENST00000444914 human ensembl 74_37 +1 known missense c.1382 p.T461M 0.034 pfam_Na/sul_symport pfam_Na/sul_symport,pfam_Cit_transptr-like_dom - no_errors SLC13A2 HGNC ENSG00000007216 94 0 0 60 33 35.4839 TAOK1 0 genome.wustl.edu 37 17 27869581 27869581 + Silent SNP T T C TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 17 27869581 27869581 T C SNP TAOK1 ENST00000261716 human ensembl 74_37 +1 known silent c.2547 p.I849 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Homeodomain-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TAOK1 HGNC ENSG00000160551 110 0 0 93 26 21.8487 MYO1D 0 genome.wustl.edu 37 17 31087632 31087632 + Missense_Mutation SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 17 31087632 31087632 C T SNP MYO1D ENST00000318217 human ensembl 74_37 -1 known missense c.1049 p.R350H 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom 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 MYO1D HGNC ENSG00000176658 82 0 0 53 26 32.9114 TMEM98 0 genome.wustl.edu 37 17 31260227 31260227 + Missense_Mutation SNP A A G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 17 31260227 31260227 A G SNP TMEM98 ENST00000394642 human ensembl 74_37 +1 known missense c.167 p.Q56R 1.000 NULL NULL - no_errors TMEM98 HGNC ENSG00000006042 87 0 0 50 20 28.5714 SLFN11 0 genome.wustl.edu 37 17 33679651 33679651 + Silent SNP A A G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 17 33679651 33679651 A G SNP SLFN11 ENST00000308377 human ensembl 74_37 -1 known silent c.2430 p.A810 0.998 superfamily_P-loop_NTPase pfam_ATPase_AAA-4,pfam_DUF2075,superfamily_P-loop_NTPase - no_errors SLFN11 HGNC ENSG00000172716 65 0 0 44 16 26.6667 MYO19 0 genome.wustl.edu 37 17 34862834 34862834 + Missense_Mutation SNP A A G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 17 34862834 34862834 A G SNP MYO19 ENST00000431794 human ensembl 74_37 -1 known missense c.1612 p.Y538H 0.767 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO19 HGNC ENSG00000141140 18 0 0 6 6 50 LHX1 0 genome.wustl.edu 37 17 35298059 35298059 + Missense_Mutation SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 17 35298059 35298059 C T SNP LHX1 ENST00000254457 human ensembl 74_37 +1 known missense c.550 p.R184C 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom - no_errors LHX1 HGNC ENSG00000132130 19 0 0 15 7 31.8182 HNF1B 0 genome.wustl.edu 37 17 36047354 36047354 + Missense_Mutation SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 17 36047354 36047354 G A SNP HNF1B ENST00000560016 human ensembl 74_37 -1 novel missense c.1576 p.R526C 0.222 NULL pfam_HNF1b_C,pfam_HNF-1_N,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_HNF1_dimer_dom,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors HNF1B HGNC ENSG00000108753 73 0 0 44 23 34.3284 CWC25 0 genome.wustl.edu 37 17 36958376 36958376 + Missense_Mutation SNP A A G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 17 36958376 36958376 A G SNP CWC25 ENST00000225428 human ensembl 74_37 -1 known missense c.1247 p.V416A 0.095 NULL pfam_CWC25,pfam_CIR_N_dom - no_errors CWC25 HGNC ENSG00000108296 48 0 0 24 13 35.1351 KRT39 0 genome.wustl.edu 37 17 39123064 39123064 + Silent SNP T T C TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 17 39123064 39123064 T C SNP KRT39 ENST00000355612 human ensembl 74_37 -1 known silent c.45 p.P15 0.012 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT39 HGNC ENSG00000196859 208 0 0 130 57 30.4813 DNAJC7 0 genome.wustl.edu 37 17 40152526 40152526 + Missense_Mutation SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 17 40152526 40152526 G A SNP DNAJC7 ENST00000457167 human ensembl 74_37 -1 known missense c.140 p.A47V 1.000 pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_1,pfam_TPR_2,pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_TPR_repeat,smart_DnaJ_domain,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJC7 HGNC ENSG00000168259 65 0 0 55 27 32.9268 MEOX1 0 genome.wustl.edu 37 17 41719304 41719304 + Missense_Mutation SNP A A C TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 17 41719304 41719304 A C SNP MEOX1 ENST00000318579 human ensembl 74_37 -1 known missense c.739 p.S247A 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors MEOX1 HGNC ENSG00000005102 97 0 0 73 28 27.7228 SOST 0 genome.wustl.edu 37 17 41835990 41835990 + Silent SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 17 41835990 41835990 G A SNP SOST ENST00000301691 human ensembl 74_37 -1 known silent c.120 p.L40 0.412 pfam_Sclerostin/SOSTDC1 pfam_Sclerostin/SOSTDC1,pfam_DAN,smart_Cys_knot_C - no_errors SOST HGNC ENSG00000167941 45 0 0 27 17 38.6364 SLC4A1 0 genome.wustl.edu 37 17 42328633 42328633 + Missense_Mutation SNP A A G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 17 42328633 42328633 A G SNP SLC4A1 ENST00000262418 human ensembl 74_37 -1 known missense c.2549 p.V850A 1.000 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 39 0 0 24 6 20 GPATCH8 0 genome.wustl.edu 37 17 42483368 42483368 + Missense_Mutation SNP A A G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 17 42483368 42483368 A G SNP GPATCH8 ENST00000591680 human ensembl 74_37 -1 known missense c.544 p.S182P 1.000 NULL pfam_G_patch_dom,pfam_Znf_C2H2_jaz,smart_G_patch_dom,pfscan_Znf_C2H2,pfscan_G_patch_dom - no_errors GPATCH8 HGNC ENSG00000186566 66 0 0 44 40 47.619 VMO1 0 genome.wustl.edu 37 17 4689224 4689224 + Missense_Mutation SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 17 4689224 4689224 C T SNP VMO1 ENST00000441199 human ensembl 74_37 -1 known missense c.319 p.A107T 0.000 NULL pfam_VOMI,superfamily_VOMI - no_errors VMO1 HGNC ENSG00000182853 411 0 0 208 171 45.1187 SGCA 0 genome.wustl.edu 37 17 48245314 48245314 + Missense_Mutation SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 17 48245314 48245314 G A SNP SGCA ENST00000262018 human ensembl 74_37 +1 known missense c.319 p.A107T 0.999 pfam_Sarcoglycan_2,superfamily_Cadherin-like,smart_Cadg pfam_Sarcoglycan_2,superfamily_Cadherin-like,smart_Cadg - no_errors SGCA HGNC ENSG00000108823 135 0 0 90 62 40.7895 ENO3 0 genome.wustl.edu 37 17 4858519 4858519 + Silent SNP C C A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 17 4858519 4858519 C A SNP ENO3 ENST00000323997 human ensembl 74_37 +1 known silent c.594 p.A198 0.995 pfam_Enolase_C,pirsf_Enolase,tigrfam_Enolase pfam_Enolase_C,pfam_Enolase_N,pfam_MeAsp_NH4-lyase_C,pirsf_Enolase,prints_Enolase,tigrfam_Enolase - no_errors ENO3 HGNC ENSG00000108515 83 0 0 32 22 40.7407 SPATA20 0 genome.wustl.edu 37 17 48631632 48631632 + Missense_Mutation SNP A A G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 17 48631632 48631632 A G SNP SPATA20 ENST00000006658 human ensembl 74_37 +1 known missense c.1978 p.S660G 1.000 NULL pfam_DUF255,pfam_AGE/RnBP,superfamily_6-hairpin_glycosidase-like,superfamily_Thioredoxin-like_fold - no_errors SPATA20 HGNC ENSG00000006282 47 0 0 21 14 40 CACNA1G 0 genome.wustl.edu 37 17 48678110 48678110 + Silent SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 17 48678110 48678110 G A SNP CACNA1G ENST00000359106 human ensembl 74_37 +1 known silent c.3714 p.A1238 0.006 NULL pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1 - no_errors CACNA1G HGNC ENSG00000006283 30 0 0 25 13 34.2105 CAMTA2 0 genome.wustl.edu 37 17 4889533 4889533 + Silent SNP G G T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 17 4889533 4889533 G T SNP CAMTA2 ENST00000414043 human ensembl 74_37 -1 known silent c.54 p.P18 1.000 NULL pfam_CG-1_dom,pfam_IPT,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS - no_errors CAMTA2 HGNC ENSG00000108509 18 0 0 10 9 47.3684 MPO 0 genome.wustl.edu 37 17 56355248 56355248 + Missense_Mutation SNP G G T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 17 56355248 56355248 G T SNP MPO ENST00000340482 human ensembl 74_37 -1 known missense c.1240 p.L414M 0.463 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 MPO HGNC ENSG00000005381 61 0 0 29 21 42 DDX42 0 genome.wustl.edu 37 17 61889307 61889307 + Missense_Mutation SNP A A G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 17 61889307 61889307 A G SNP DDX42 ENST00000389924 human ensembl 74_37 +1 known missense c.1414 p.T472A 1.000 superfamily_P-loop_NTPase,smart_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 296 0 0 169 97 36.4662 FAM64A 0 genome.wustl.edu 37 17 6348605 6348605 + Missense_Mutation SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 17 6348605 6348605 G A SNP FAM64A ENST00000250056 human ensembl 74_37 +1 known missense c.175 p.V59I 0.949 pfam_DUF1466 pfam_DUF1466 - no_errors FAM64A HGNC ENSG00000129195 39 0 0 20 12 37.5 BPTF 0 genome.wustl.edu 37 17 65944394 65944394 + Missense_Mutation SNP T T C TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 17 65944394 65944394 T C SNP BPTF ENST00000321892 human ensembl 74_37 +1 known missense c.8276 p.L2759P 0.998 superfamily_Adenylate_cyclase-assoc_CAP_N pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BPTF HGNC ENSG00000171634 49 0 0 53 11 17.1875 OTOP3 0 genome.wustl.edu 37 17 72943232 72943232 + Missense_Mutation SNP G G T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 17 72943232 72943232 G T SNP OTOP3 ENST00000328801 human ensembl 74_37 +1 known missense c.1282 p.G428C 0.997 pfam_Otopetrin pfam_Otopetrin - no_errors OTOP3 HGNC ENSG00000182938 55 0 0 24 22 47.8261 ITGB4 0 genome.wustl.edu 37 17 73748363 73748363 + Missense_Mutation SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 17 73748363 73748363 G A SNP ITGB4 ENST00000200181 human ensembl 74_37 +1 known missense c.3902 p.R1301H 0.909 pirsf_Integrin_bsu-4,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pirsf_Integrin_bsu-4,pfam_Integrin_bsu_N,pfam_Fibronectin_type3,pfam_Calx_beta,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Fibronectin_type3,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,smart_Calx_beta,smart_Fibronectin_type3,prints_Integrin_bsu,pfscan_Fibronectin_type3 - no_errors ITGB4 HGNC ENSG00000132470 94 0 0 66 34 34 ITGB4 0 genome.wustl.edu 37 17 73750720 73750720 + Missense_Mutation SNP T T C TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 17 73750720 73750720 T C SNP ITGB4 ENST00000200181 human ensembl 74_37 +1 known missense c.4382 p.M1461T 1.000 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 37 0 0 43 4 8.51064 TRIM65 0 genome.wustl.edu 37 17 73888350 73888350 + Nonsense_Mutation SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 17 73888350 73888350 G A SNP TRIM65 ENST00000269383 human ensembl 74_37 -1 known nonsense c.742 p.Q248* 1.000 NULL 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_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM65 HGNC ENSG00000141569 19 0 0 8 12 60 EXOC7 0 genome.wustl.edu 37 17 74097459 74097459 + Splice_Site SNP T T C TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 17 74097459 74097459 T C SNP EXOC7 ENST00000335146 human ensembl 74_37 -1 known splice_site c.312-2 e4-2 1.000 - - - no_errors EXOC7 HGNC ENSG00000182473 72 0 0 48 21 30.4348 TBC1D16 0 genome.wustl.edu 37 17 77922698 77922698 + Missense_Mutation SNP T T C TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 17 77922698 77922698 T C SNP TBC1D16 ENST00000310924 human ensembl 74_37 -1 known missense c.1514 p.E505G 1.000 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 TBC1D16 HGNC ENSG00000167291 68 0 0 48 28 36.8421 RNF213 0 genome.wustl.edu 37 17 78321528 78321528 + Silent SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 17 78321528 78321528 C T SNP RNF213 ENST00000582970 human ensembl 74_37 +1 known silent c.9393 p.L3131 0.003 superfamily_P-loop_NTPase superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 72 0 0 48 32 40 ALYREF 0 genome.wustl.edu 37 17 79846240 79846240 + Silent SNP A A G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 17 79846240 79846240 A G SNP ALYREF ENST00000505490 human ensembl 74_37 -1 known silent c.657 p.G219 0.562 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors ALYREF HGNC ENSG00000183684 31 0 0 24 2 7.69231 OGFOD3 0 genome.wustl.edu 37 17 80369341 80369341 + Missense_Mutation SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 17 80369341 80369341 G A SNP OGFOD3 ENST00000329197 human ensembl 74_37 -1 known missense c.370 p.R124W 0.000 smart_Pro_4_hyd_alph smart_Pro_4_hyd_alph - no_errors OGFOD3 HGNC ENSG00000181396 50 0 0 27 19 41.3043 HEXDC 0 genome.wustl.edu 37 17 80398968 80398968 + Missense_Mutation SNP C C A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 17 80398968 80398968 C A SNP HEXDC ENST00000337014 human ensembl 74_37 +1 known missense c.1078 p.P360T 0.000 NULL pfam_Glyco_hydro_20_cat-core,superfamily_Glycoside_hydrolase_SF - no_errors HEXDC HGNC ENSG00000169660 133 0 0 90 74 45.122 MYH10 0 genome.wustl.edu 37 17 8383818 8383818 + Missense_Mutation SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 17 8383818 8383818 G A SNP MYH10 ENST00000396239 human ensembl 74_37 -1 known missense c.5260 p.R1754C 1.000 pfam_Myosin_tail 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 25 0 0 19 13 40.625 PIK3R6 0 genome.wustl.edu 37 17 8707380 8707380 + Missense_Mutation SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 17 8707380 8707380 C T SNP PIK3R6 ENST00000311434 human ensembl 74_37 -1 known missense c.2084 p.R695H 0.459 pfam_PI3K_1B_gamma_p101_su pfam_PI3K_1B_gamma_p101_su - no_errors PIK3R6 HGNC ENSG00000174083 39 0 0 20 10 33.3333 RCVRN 0 genome.wustl.edu 37 17 9801318 9801318 + RNA SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 17 9801318 9801318 C T SNP RCVRN ENST00000570909 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors RCVRN HGNC ENSG00000109047 29 0 0 24 12 33.3333 SEH1L 0 genome.wustl.edu 37 18 12955468 12955468 + Missense_Mutation SNP A A G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 18 12955468 12955468 A G SNP SEH1L ENST00000399892 human ensembl 74_37 +1 known missense c.169 p.S57G 1.000 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,prints_G-protein_beta_WD-40_rep - no_errors SEH1L HGNC ENSG00000085415 106 1 0.934579 120 7 5.51181 LDLRAD4 0 genome.wustl.edu 37 18 13621221 13621221 + Missense_Mutation SNP T T C TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 18 13621221 13621221 T C SNP LDLRAD4 ENST00000359446 human ensembl 74_37 +1 known missense c.287 p.F96S 1.000 NULL pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt - no_errors LDLRAD4 HGNC ENSG00000168675 62 0 0 40 25 38.4615 CHST9 0 genome.wustl.edu 37 18 24496988 24496988 + Silent SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 18 24496988 24496988 G A SNP CHST9 ENST00000284224 human ensembl 74_37 -1 known silent c.567 p.Y189 0.013 NULL pfam_Sulfotransferase - no_errors CHST9 HGNC ENSG00000154080 127 0 0 81 50 38.1679 DSC2 0 genome.wustl.edu 37 18 28654723 28654723 + Missense_Mutation SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 18 28654723 28654723 C T SNP DSC2 ENST00000280904 human ensembl 74_37 -1 known missense c.1814 p.G605D 0.947 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin,prints_Desmosomal_cadherin - no_errors DSC2 HGNC ENSG00000134755 71 0 0 54 27 33.3333 LPIN2 0 genome.wustl.edu 37 18 2925364 2925364 + Missense_Mutation SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 18 2925364 2925364 G A SNP LPIN2 ENST00000261596 human ensembl 74_37 -1 known missense c.1796 p.P599L 0.030 NULL pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,smart_LNS2 - no_errors LPIN2 HGNC ENSG00000101577 67 0 0 43 25 36.7647 TRAPPC8 0 genome.wustl.edu 37 18 29410772 29410772 + Silent SNP A A G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 18 29410772 29410772 A G SNP TRAPPC8 ENST00000283351 human ensembl 74_37 -1 known silent c.4254 p.F1418 1.000 NULL NULL - no_errors TRAPPC8 HGNC ENSG00000153339 47 0 0 29 25 46.2963 ASXL3 0 genome.wustl.edu 37 18 31319536 31319536 + Missense_Mutation SNP C C A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 18 31319536 31319536 C A SNP ASXL3 ENST00000269197 human ensembl 74_37 +1 known missense c.2168 p.P723H 1.000 NULL superfamily_Znf_FYVE_PHD - no_errors ASXL3 HGNC ENSG00000141431 335 0 0 189 96 33.6842 MOCOS 0 genome.wustl.edu 37 18 33800060 33800060 + Missense_Mutation SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 18 33800060 33800060 C T SNP MOCOS ENST00000261326 human ensembl 74_37 +1 known missense c.1840 p.R614W 1.000 pfam_MOSC_N,superfamily_Pyrv_Knase-like_insert_dom 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 96 0 0 56 36 39.1304 PSTPIP2 0 genome.wustl.edu 37 18 43585486 43585486 + Missense_Mutation SNP T T C TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 18 43585486 43585486 T C SNP PSTPIP2 ENST00000409746 human ensembl 74_37 -1 known missense c.366 p.I122M 0.038 NULL pfam_FCH_dom,smart_FCH_dom,pfscan_FCH_dom - no_errors PSTPIP2 HGNC ENSG00000152229 30 0 0 24 7 22.5806 CTIF 0 genome.wustl.edu 37 18 46385794 46385794 + Missense_Mutation SNP T T G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 18 46385794 46385794 T G SNP CTIF ENST00000382998 human ensembl 74_37 +1 known missense c.1667 p.M556R 1.000 pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 - no_errors CTIF HGNC ENSG00000134030 60 0 0 35 17 32.6923 MAPK4 0 genome.wustl.edu 37 18 48190611 48190611 + Silent SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 18 48190611 48190611 C T SNP MAPK4 ENST00000400384 human ensembl 74_37 +1 known silent c.283 p.L95 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,prints_MAPK_ERK3/4 - no_errors MAPK4 HGNC ENSG00000141639 55 0 0 42 19 31.1475 ALPK2 0 genome.wustl.edu 37 18 56247010 56247010 + Missense_Mutation SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 18 56247010 56247010 G A SNP ALPK2 ENST00000361673 human ensembl 74_37 -1 known missense c.998 p.S333F 1.000 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 134 0 0 109 19 14.8438 CCBE1 0 genome.wustl.edu 37 18 57103367 57103367 + Missense_Mutation SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 18 57103367 57103367 G A SNP CCBE1 ENST00000439986 human ensembl 74_37 -1 known missense c.994 p.P332S 1.000 pfam_Collagen pfam_Collagen,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom - no_errors CCBE1 HGNC ENSG00000183287 103 0 0 55 32 36.7816 CDH20 0 genome.wustl.edu 37 18 59157845 59157845 + Missense_Mutation SNP T T C TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 18 59157845 59157845 T C SNP CDH20 ENST00000262717 human ensembl 74_37 +1 known missense c.59 p.L20S 1.000 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH20 HGNC ENSG00000101542 119 0 0 94 48 33.8028 CDH20 0 genome.wustl.edu 37 18 59221588 59221588 + Missense_Mutation SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 18 59221588 59221588 C T SNP CDH20 ENST00000262717 human ensembl 74_37 +1 known missense c.2066 p.A689V 1.000 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH20 HGNC ENSG00000101542 40 0 0 26 17 39.5349 CDH20 0 genome.wustl.edu 37 18 59221697 59221697 + Silent SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 18 59221697 59221697 C T SNP CDH20 ENST00000262717 human ensembl 74_37 +1 known silent c.2175 p.Y725 1.000 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH20 HGNC ENSG00000101542 21 0 0 11 7 38.8889 CTDP1 0 genome.wustl.edu 37 18 77477859 77477859 + Missense_Mutation SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 18 77477859 77477859 G A SNP CTDP1 ENST00000299543 human ensembl 74_37 +1 known missense c.2260 p.A754T 0.000 pfam_FCP1_C pfam_FCP1_C,pfam_NIF,superfamily_HAD-like_dom,superfamily_BRCT_dom,superfamily_Single_hybrid_motif,smart_NIF,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_NIF,tigrfam_FCP1_euk - no_errors CTDP1 HGNC ENSG00000060069 42 0 0 24 19 44.186 PTPRM 0 genome.wustl.edu 37 18 8076526 8076526 + Missense_Mutation SNP A A C TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 18 8076526 8076526 A C SNP PTPRM ENST00000400060 human ensembl 74_37 +1 known missense c.1515 p.E505D 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Immunoglobulin,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 PTPRM HGNC ENSG00000173482 66 0 0 40 15 27.2727 RAB12 0 genome.wustl.edu 37 18 8633208 8633208 + Silent SNP A A G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 18 8633208 8633208 A G SNP RAB12 ENST00000329286 human ensembl 74_37 +1 known silent c.309 p.R103 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_Gtr1_RagA,pfam_SRP_receptor_beta_su,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,pfam_Gtr1_RagA,pfam_SRP_receptor_beta_su,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 RAB12 HGNC ENSG00000206418 101 0 0 109 7 6.03448 TYK2 0 genome.wustl.edu 37 19 10463629 10463629 + Missense_Mutation SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 19 10463629 10463629 C T SNP TYK2 ENST00000264818 human ensembl 74_37 -1 known missense c.3173 p.R1058H 0.996 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,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_Prot_kinase_dom 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 25 0 0 19 16 45.7143 SBNO2 0 genome.wustl.edu 37 19 1119609 1119609 + Missense_Mutation SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 19 1119609 1119609 G A SNP SBNO2 ENST00000361757 human ensembl 74_37 -1 known missense c.1279 p.P427S 1.000 superfamily_P-loop_NTPase superfamily_P-loop_NTPase - no_errors SBNO2 HGNC ENSG00000064932 13 0 0 4 4 50 KANK2 0 genome.wustl.edu 37 19 11304155 11304155 + Missense_Mutation SNP G G T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 19 11304155 11304155 G T SNP KANK2 ENST00000432929 human ensembl 74_37 -1 known missense c.601 p.Q201K 1.000 NULL pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KANK2 HGNC ENSG00000197256 31 0 0 8 11 57.8947 RGL3 0 genome.wustl.edu 37 19 11508219 11508219 + Missense_Mutation SNP T T G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 19 11508219 11508219 T G SNP RGL3 ENST00000393423 human ensembl 74_37 -1 known missense c.1819 p.S607R 0.001 NULL 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 24 0 0 14 11 44 ZNF442 0 genome.wustl.edu 37 19 12460790 12460790 + Missense_Mutation SNP T T A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 19 12460790 12460790 T A SNP ZNF442 ENST00000242804 human ensembl 74_37 -1 known missense c.1609 p.I537F 0.042 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 ZNF442 HGNC ENSG00000198342 80 0 0 46 29 38.6667 C19orf57 0 genome.wustl.edu 37 19 14000035 14000035 + Missense_Mutation SNP A A G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 19 14000035 14000035 A G SNP C19orf57 ENST00000454313 human ensembl 74_37 -1 known missense c.1634 p.L545P 0.786 NULL NULL - no_errors C19orf57 HGNC ENSG00000132016 23 0 0 17 10 37.037 OR7C1 0 genome.wustl.edu 37 19 14910600 14910600 + Missense_Mutation SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 19 14910600 14910600 C T SNP OR7C1 ENST00000248073 human ensembl 74_37 -1 known missense c.349 p.V117M 0.002 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 OR7C1 HGNC ENSG00000127530 90 0 0 59 30 33.7079 ANO8 0 genome.wustl.edu 37 19 17438659 17438659 + Missense_Mutation SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 19 17438659 17438659 C T SNP ANO8 ENST00000159087 human ensembl 74_37 -1 known missense c.2257 p.V753M 1.000 pfam_Anoctamin pfam_Anoctamin - no_errors ANO8 HGNC ENSG00000074855 53 0 0 33 25 43.1034 UNC13A 0 genome.wustl.edu 37 19 17759368 17759368 + Missense_Mutation SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 19 17759368 17759368 G A SNP UNC13A ENST00000428389 human ensembl 74_37 -1 known missense c.1952 p.T651M 0.998 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_Munc13_subgr_dom-2,pfam_C2_dom,pfam_Ca-dep_secretion_activator,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13A HGNC ENSG00000130477 45 0 0 30 17 36.1702 JSRP1 0 genome.wustl.edu 37 19 2255302 2255302 + Silent SNP T T A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 19 2255302 2255302 T A SNP JSRP1 ENST00000300961 human ensembl 74_37 -1 known silent c.12 p.T4 0.079 NULL NULL - no_errors JSRP1 HGNC ENSG00000167476 13 0 0 10 7 41.1765 WDR88 0 genome.wustl.edu 37 19 33647411 33647411 + Silent SNP T T C TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 19 33647411 33647411 T C SNP WDR88 ENST00000355868 human ensembl 74_37 +1 known silent c.960 p.H320 0.992 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom 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 80 0 0 50 35 41.1765 FZR1 0 genome.wustl.edu 37 19 3527034 3527034 + Nonsense_Mutation SNP C C G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 19 3527034 3527034 C G SNP FZR1 ENST00000395095 human ensembl 74_37 +1 known nonsense c.444 p.Y148* 0.999 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors FZR1 HGNC ENSG00000105325 67 0 0 53 8 13.1148 SBSN 0 genome.wustl.edu 37 19 36018750 36018750 + Missense_Mutation SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 19 36018750 36018750 G A SNP SBSN ENST00000452271 human ensembl 74_37 -1 novel missense c.434 p.A145V 0.277 NULL NULL - no_errors SBSN HGNC ENSG00000189001 96 0 0 59 40 40.404 WDR62 0 genome.wustl.edu 37 19 36594075 36594075 + Missense_Mutation SNP G G T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 19 36594075 36594075 G T SNP WDR62 ENST00000401500 human ensembl 74_37 +1 known missense c.3480 p.K1160N 0.005 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR62 HGNC ENSG00000075702 46 0 0 20 15 42.8571 ZNF461 0 genome.wustl.edu 37 19 37130098 37130098 + Missense_Mutation SNP T T A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 19 37130098 37130098 T A SNP ZNF461 ENST00000588268 human ensembl 74_37 -1 known missense c.1149 p.K383N 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 ZNF461 HGNC ENSG00000197808 100 0 0 86 15 14.8515 ZNF568 0 genome.wustl.edu 37 19 37440970 37440970 + Silent SNP T T G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 19 37440970 37440970 T G SNP ZNF568 ENST00000333987 human ensembl 74_37 +1 known silent c.915 p.P305 0.084 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 ZNF568 HGNC ENSG00000198453 58 0 0 35 16 31.3725 RYR1 0 genome.wustl.edu 37 19 39038982 39038982 + Missense_Mutation SNP G G T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 19 39038982 39038982 G T SNP RYR1 ENST00000359596 human ensembl 74_37 +1 known missense c.12204 p.K4068N 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 101 0 0 46 28 37.8378 ECH1 0 genome.wustl.edu 37 19 39322070 39322070 + Missense_Mutation SNP G G T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 19 39322070 39322070 G T SNP ECH1 ENST00000221418 human ensembl 74_37 -1 known missense c.139 p.L47I 0.000 NULL pfam_Crotonase_core_superfam - no_errors ECH1 HGNC ENSG00000104823 52 0 0 23 23 50 NFKBIB 0 genome.wustl.edu 37 19 39398268 39398268 + Missense_Mutation SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 19 39398268 39398268 G A SNP NFKBIB ENST00000313582 human ensembl 74_37 +1 known missense c.938 p.S313N 0.997 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 NFKBIB HGNC ENSG00000104825 18 0 0 8 3 27.2727 C19orf47 0 genome.wustl.edu 37 19 40828262 40828262 + Missense_Mutation SNP G G T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 19 40828262 40828262 G T SNP C19orf47 ENST00000582783 human ensembl 74_37 -1 known missense c.796 p.L266M 1.000 NULL superfamily_SAM/pointed - no_errors C19orf47 HGNC ENSG00000160392 17 0 0 6 9 60 SYMPK 0 genome.wustl.edu 37 19 46351244 46351244 + Missense_Mutation SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 19 46351244 46351244 G A SNP SYMPK ENST00000245934 human ensembl 74_37 -1 known missense c.442 p.R148W 0.949 pfam_DUF3453,superfamily_ARM-type_fold pfam_DUF3453,pfam_Symplekin_C,superfamily_ARM-type_fold - no_errors SYMPK HGNC ENSG00000125755 31 0 0 20 11 35.4839 PGLYRP1 0 genome.wustl.edu 37 19 46522617 46522617 + Missense_Mutation SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 19 46522617 46522617 G A SNP PGLYRP1 ENST00000008938 human ensembl 74_37 -1 known missense c.470 p.A157V 0.000 pfam_Amidase_domain,superfamily_Amidase_domain,smart_PGRP_domain_met/bac,smart_Amidase_domain,pirsf_Peptidoglycan_recognition pfam_Amidase_domain,superfamily_Amidase_domain,smart_PGRP_domain_met/bac,smart_Amidase_domain,pirsf_Peptidoglycan_recognition - no_errors PGLYRP1 HGNC ENSG00000008438 22 0 0 24 15 38.4615 PNMAL2 0 genome.wustl.edu 37 19 46998154 46998154 + Missense_Mutation SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 19 46998154 46998154 G A SNP PNMAL2 ENST00000599531 human ensembl 74_37 -1 known missense c.569 p.A190V 0.000 NULL NULL - no_errors PNMAL2 HGNC ENSG00000204851 43 0 0 34 20 37.037 CCDC114 0 genome.wustl.edu 37 19 48807230 48807230 + Missense_Mutation SNP A A G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 19 48807230 48807230 A G SNP CCDC114 ENST00000315396 human ensembl 74_37 -1 known missense c.722 p.L241P 0.038 NULL NULL - no_errors CCDC114 HGNC ENSG00000105479 57 0 0 38 23 37.7049 TRPM4 0 genome.wustl.edu 37 19 49674945 49674945 + Silent SNP T T C TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 19 49674945 49674945 T C SNP TRPM4 ENST00000252826 human ensembl 74_37 +1 known silent c.969 p.S323 0.228 NULL pfam_Ion_trans_dom - no_errors TRPM4 HGNC ENSG00000130529 41 0 0 27 5 15.625 PTOV1 0 genome.wustl.edu 37 19 50363375 50363375 + Missense_Mutation SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 19 50363375 50363375 C T SNP PTOV1 ENST00000391842 human ensembl 74_37 +1 known missense c.1174 p.R392C 0.998 pfam_Mediator_Med25 pfam_Mediator_Med25 - no_errors PTOV1 HGNC ENSG00000104960 45 0 0 30 25 45.4545 NUP62 0 genome.wustl.edu 37 19 50412513 50412513 + Silent SNP T T C TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 19 50412513 50412513 T C SNP NUP62 ENST00000352066 human ensembl 74_37 -1 known silent c.552 p.A184 0.000 NULL pfam_Nucleoporin_NSP1_C - no_errors NUP62 HGNC ENSG00000213024 45 0 0 25 18 41.8605 NR1H2 0 genome.wustl.edu 37 19 50882025 50882025 + Missense_Mutation SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 19 50882025 50882025 G A SNP NR1H2 ENST00000253727 human ensembl 74_37 +1 known missense c.719 p.R240H 1.000 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,pfscan_Znf_hrmn_rcpt,prints_Liver_X_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Ecdystd_rcpt,prints_ThyrH_rcpt - no_errors NR1H2 HGNC ENSG00000131408 53 0 0 28 35 55.5556 FAM71E1 0 genome.wustl.edu 37 19 50970986 50970986 + Missense_Mutation SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 19 50970986 50970986 G A SNP FAM71E1 ENST00000600100 human ensembl 74_37 -1 known missense c.640 p.R214W 0.977 pfam_DUF3699 pfam_DUF3699 - no_errors FAM71E1 HGNC ENSG00000142530 10 0 0 3 3 50 SHANK1 0 genome.wustl.edu 37 19 51165362 51165362 + Nonsense_Mutation SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 19 51165362 51165362 G A SNP SHANK1 ENST00000391814 human ensembl 74_37 -1 known nonsense c.6370 p.R2124* 1.000 pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM 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 31 0 0 16 13 44.8276 SHANK1 0 genome.wustl.edu 37 19 51190039 51190039 + Missense_Mutation SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 19 51190039 51190039 C T SNP SHANK1 ENST00000391814 human ensembl 74_37 -1 known missense c.2444 p.S815N 1.000 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 22 0 0 18 10 35.7143 SHANK1 0 genome.wustl.edu 37 19 51191203 51191203 + Missense_Mutation SNP A A G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 19 51191203 51191203 A G SNP SHANK1 ENST00000391814 human ensembl 74_37 -1 known missense c.2285 p.M762T 1.000 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 40 0 0 31 15 32.6087 PTPRS 0 genome.wustl.edu 37 19 5286136 5286136 + Missense_Mutation SNP C C A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 19 5286136 5286136 C A SNP PTPRS ENST00000372412 human ensembl 74_37 -1 known missense c.16 p.G6C 0.735 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 28 0 0 13 11 45.8333 NLRP12 0 genome.wustl.edu 37 19 54314476 54314476 + Missense_Mutation SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 19 54314476 54314476 C T SNP NLRP12 ENST00000324134 human ensembl 74_37 -1 known missense c.437 p.R146H 0.176 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 NLRP12 HGNC ENSG00000142405 116 1 0.854701 89 13 12.7451 GP6 0 genome.wustl.edu 37 19 55530055 55530055 + Missense_Mutation SNP A A G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 19 55530055 55530055 A G SNP GP6 ENST00000310373 human ensembl 74_37 -1 known missense c.689 p.L230P 0.000 NULL smart_Ig_sub,smart_Ig_sub2 - no_errors GP6 HGNC ENSG00000088053 90 0 0 75 36 32.4324 BRSK1 0 genome.wustl.edu 37 19 55812988 55812988 + Missense_Mutation SNP A A G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 19 55812988 55812988 A G SNP BRSK1 ENST00000590333 human ensembl 74_37 +1 known missense c.835 p.R279G 0.029 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 BRSK1 HGNC ENSG00000160469 18 0 0 14 6 30 GTF2F1 0 genome.wustl.edu 37 19 6381412 6381412 + Missense_Mutation SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 19 6381412 6381412 C T SNP GTF2F1 ENST00000394456 human ensembl 74_37 -1 known missense c.976 p.E326K 1.000 pfam_TFIIF-alpha pfam_TFIIF-alpha,superfamily_TFIIF_interaction - no_errors GTF2F1 HGNC ENSG00000125651 22 0 0 15 8 34.7826 ARHGEF18 0 genome.wustl.edu 37 19 7518449 7518449 + Missense_Mutation SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 19 7518449 7518449 G A SNP ARHGEF18 ENST00000359920 human ensembl 74_37 +1 known missense c.1388 p.G463D 1.000 superfamily_DH-domain pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF18 HGNC ENSG00000104880 72 0 0 51 34 40 MCOLN1 0 genome.wustl.edu 37 19 7598461 7598461 + Missense_Mutation SNP A A G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 19 7598461 7598461 A G SNP MCOLN1 ENST00000264079 human ensembl 74_37 +1 known missense c.1628 p.Q543R 1.000 NULL pfam_PKD1_2_channel,superfamily_Glycoside_hydrolase_SF - no_errors MCOLN1 HGNC ENSG00000090674 22 0 0 12 9 42.8571 CLEC4M 0 genome.wustl.edu 37 19 7830511 7830511 + Missense_Mutation SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 19 7830511 7830511 C T SNP CLEC4M ENST00000359059 human ensembl 74_37 +1 known missense c.139 p.L47F 0.000 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII - no_errors CLEC4M HGNC ENSG00000104938 71 0 0 63 7 10 TIMM44 0 genome.wustl.edu 37 19 7998751 7998751 + Silent SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 19 7998751 7998751 G A SNP TIMM44 ENST00000270538 human ensembl 74_37 -1 known silent c.681 p.N227 0.898 pirsf_Tim44,tigrfam_Tim44 pfam_Tim44-like_dom,smart_Tim44-like_dom,pirsf_Tim44,tigrfam_Tim44 - no_errors TIMM44 HGNC ENSG00000104980 62 0 0 41 20 32.7869 FBN3 0 genome.wustl.edu 37 19 8176624 8176624 + Missense_Mutation SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 19 8176624 8176624 C T SNP FBN3 ENST00000270509 human ensembl 74_37 -1 known missense c.3992 p.R1331Q 0.716 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 35 0 0 22 11 33.3333 ZNF699 0 genome.wustl.edu 37 19 9406969 9406969 + Missense_Mutation SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 19 9406969 9406969 C T SNP ZNF699 ENST00000308650 human ensembl 74_37 -1 known missense c.1111 p.A371T 0.215 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 ZNF699 HGNC ENSG00000196110 65 0 0 37 24 39.3443 CHST10 0 genome.wustl.edu 37 2 101010201 101010201 + Missense_Mutation SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 2 101010201 101010201 C T SNP CHST10 ENST00000542617 human ensembl 74_37 -1 known missense c.721 p.E241K 1.000 pfam_Sulfotransferase,superfamily_P-loop_NTPase pfam_Sulfotransferase,superfamily_P-loop_NTPase - no_errors CHST10 HGNC ENSG00000115526 68 0 0 43 38 46.9136 TBC1D8 0 genome.wustl.edu 37 2 101656720 101656720 + Missense_Mutation SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 2 101656720 101656720 G A SNP TBC1D8 ENST00000409318 human ensembl 74_37 -1 known missense c.1000 p.R334W 0.607 pfam_GRAM,smart_GRAM pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D8 HGNC ENSG00000204634 77 0 0 47 29 38.1579 RANBP2 0 genome.wustl.edu 37 2 109400209 109400209 + Missense_Mutation SNP T T C TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 2 109400209 109400209 T C SNP RANBP2 ENST00000283195 human ensembl 74_37 +1 known missense c.9527 p.L3176P 1.000 pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom 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 92 0 0 58 46 44.2308 SEPT10 0 genome.wustl.edu 37 2 110332309 110332309 + Missense_Mutation SNP A A G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 2 110332309 110332309 A G SNP SEPT10 ENST00000397712 human ensembl 74_37 -1 known missense c.449 p.F150S 1.000 pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase,pirsf_Septin pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase,pirsf_Septin - no_errors SEPT10 HGNC ENSG00000186522 77 0 0 43 30 41.0959 GREB1 0 genome.wustl.edu 37 2 11755363 11755363 + Missense_Mutation SNP A A G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 2 11755363 11755363 A G SNP GREB1 ENST00000234142 human ensembl 74_37 +1 known missense c.3269 p.D1090G 1.000 NULL superfamily_P-loop_NTPase - no_errors GREB1 HGNC ENSG00000196208 30 0 0 24 4 14.2857 MAP3K2 0 genome.wustl.edu 37 2 128065338 128065338 + Silent SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 2 128065338 128065338 C T SNP MAP3K2 ENST00000344908 human ensembl 74_37 -1 known silent c.1677 p.P559 0.194 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_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 - no_errors MAP3K2 HGNC ENSG00000169967 24 0 0 10 9 47.3684 WDR33 0 genome.wustl.edu 37 2 128477098 128477098 + Missense_Mutation SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 2 128477098 128477098 C T SNP WDR33 ENST00000322313 human ensembl 74_37 -1 known missense c.2501 p.R834Q 0.976 NULL pfam_WD40_repeat,pfam_Collagen,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR33 HGNC ENSG00000136709 42 0 0 24 12 33.3333 POTEF 0 genome.wustl.edu 37 2 130832662 130832662 + Missense_Mutation SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 2 130832662 130832662 G A SNP POTEF ENST00000357462 human ensembl 74_37 -1 known missense c.2383 p.R795C 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 133 0 0 91 52 36.3636 PLEKHB2 0 genome.wustl.edu 37 2 131890528 131890528 + Silent SNP T T C TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 2 131890528 131890528 T C SNP PLEKHB2 ENST00000303908 human ensembl 74_37 +1 known silent c.387 p.P129 0.133 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHB2 HGNC ENSG00000115762 69 0 0 46 24 34.2857 GPR39 0 genome.wustl.edu 37 2 133174707 133174707 + Missense_Mutation SNP T T C TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 2 133174707 133174707 T C SNP GPR39 ENST00000329321 human ensembl 74_37 +1 known missense c.92 p.I31T 1.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR39 HGNC ENSG00000183840 80 0 0 42 19 31.1475 PRPF40A 0 genome.wustl.edu 37 2 153533090 153533090 + Missense_Mutation SNP G G C TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 2 153533090 153533090 G C SNP PRPF40A ENST00000410080 human ensembl 74_37 -1 known missense c.860 p.P287R 1.000 NULL pfam_FF_domain,pfam_WW_dom,superfamily_FF_domain,superfamily_WW_dom,smart_WW_dom,smart_FF_domain,pfscan_WW_dom,prints_Antifreeze_1 - no_errors PRPF40A HGNC ENSG00000196504 14 0 0 3 2 40 PXDN 0 genome.wustl.edu 37 2 1647304 1647304 + Missense_Mutation SNP G G C TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 2 1647304 1647304 G C SNP PXDN ENST00000252804 human ensembl 74_37 -1 known missense c.3788 p.T1263S 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 49 0 0 33 18 35.2941 SCN2A 0 genome.wustl.edu 37 2 166246213 166246213 + Missense_Mutation SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 2 166246213 166246213 C T SNP SCN2A ENST00000283256 human ensembl 74_37 +1 known missense c.5897 p.T1966M 1.000 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 70 0 0 60 28 31.8182 XIRP2 0 genome.wustl.edu 37 2 168108385 168108385 + Missense_Mutation SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 2 168108385 168108385 G A SNP XIRP2 ENST00000295237 human ensembl 74_37 +1 known missense c.10483 p.G3495R 1.000 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP2 HGNC ENSG00000163092 90 0 0 63 32 33.6842 MYO3B 0 genome.wustl.edu 37 2 171242744 171242744 + Missense_Mutation SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 2 171242744 171242744 G A SNP MYO3B ENST00000334231 human ensembl 74_37 +1 known missense c.1363 p.A455T 0.998 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_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 33 0 0 32 15 31.9149 DCAF17 0 genome.wustl.edu 37 2 172337802 172337802 + RNA SNP T T A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 2 172337802 172337802 T A SNP DCAF17 ENST00000468592 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors DCAF17 HGNC ENSG00000115827 14 0 0 7 6 46.1538 DYNC1I2 0 genome.wustl.edu 37 2 172546719 172546719 + Silent SNP G G T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 2 172546719 172546719 G T SNP DYNC1I2 ENST00000397119 human ensembl 74_37 +1 known silent c.54 p.L18 1.000 NULL pfam_Dynein_IC_1/2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DYNC1I2 HGNC ENSG00000077380 14 0 0 12 10 45.4545 SLC25A12 0 genome.wustl.edu 37 2 172650186 172650186 + Missense_Mutation SNP A A T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 2 172650186 172650186 A T SNP SLC25A12 ENST00000422440 human ensembl 74_37 -1 known missense c.1397 p.V466D 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A12 HGNC ENSG00000115840 70 0 0 47 31 39.7436 GEN1 0 genome.wustl.edu 37 2 17962826 17962826 + Missense_Mutation SNP A A G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 2 17962826 17962826 A G SNP GEN1 ENST00000317402 human ensembl 74_37 +1 known missense c.2347 p.M783V 0.000 NULL pfam_XPG-I_dom,pfam_XPG_DNA_repair_N,superfamily_5-3_exonuclease_C,smart_XPG_DNA_repair_N,smart_XPG-I_dom,smart_HhH2,prints_XPG/Rad2 - no_errors GEN1 HGNC ENSG00000178295 94 0 0 51 42 45.1613 MSTN 0 genome.wustl.edu 37 2 190925074 190925074 + Missense_Mutation SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 2 190925074 190925074 G A SNP MSTN ENST00000260950 human ensembl 74_37 -1 known missense c.461 p.A154V 1.000 pfam_TGF-b_N pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C - no_errors MSTN HGNC ENSG00000138379 89 0 0 46 37 44.5783 KCTD18 0 genome.wustl.edu 37 2 201355178 201355178 + Missense_Mutation SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 2 201355178 201355178 G A SNP KCTD18 ENST00000359878 human ensembl 74_37 -1 known missense c.926 p.A309V 0.000 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold - no_errors KCTD18 HGNC ENSG00000155729 42 0 0 19 10 34.4828 CASP8 0 genome.wustl.edu 37 2 202149988 202149988 + Nonsense_Mutation SNP G G T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 2 202149988 202149988 G T SNP CASP8 ENST00000358485 human ensembl 74_37 +1 known nonsense c.1429 p.G477* 1.000 pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pfscan_Pept_C14_p10,prints_Pept_C14A_p45_core 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 86 0 0 39 24 38.0952 NRP2 0 genome.wustl.edu 37 2 206641015 206641015 + Missense_Mutation SNP C C A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 2 206641015 206641015 C A SNP NRP2 ENST00000272849 human ensembl 74_37 +1 known missense c.2486 p.P829H 1.000 pirsf_Neuropilin,pfam_Neuropilin1_C pirsf_Neuropilin,pfam_CUB_dom,pfam_Coagulation_fac_5/8-C_type_dom,pfam_Neuropilin1_C,pfam_MAM_dom,superfamily_Galactose-bd-like,superfamily_CUB_dom,superfamily_ConA-like_lec_gl_sf,smart_CUB_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_MAM_dom,prints_MAM_dom,pfscan_CUB_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_MAM_dom - no_errors NRP2 HGNC ENSG00000118257 59 0 0 41 21 33.871 ZDBF2 0 genome.wustl.edu 37 2 207174987 207174987 + Missense_Mutation SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 2 207174987 207174987 C T SNP ZDBF2 ENST00000374423 human ensembl 74_37 +1 known missense c.5735 p.A1912V 0.997 NULL pfam_Znf_DBF,smart_Znf_DBF - no_errors ZDBF2 HGNC ENSG00000204186 96 0 0 63 47 42.7273 METTL21A 0 genome.wustl.edu 37 2 208477826 208477826 + Missense_Mutation SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 2 208477826 208477826 C T SNP METTL21A ENST00000406927 human ensembl 74_37 -1 known missense c.601 p.E201K 0.215 NULL pfam_Nicotinamide_N-MeTfrase-like,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Small_mtfrase_dom - no_errors METTL21A HGNC ENSG00000144401 127 0 0 139 17 10.8974 UNC80 0 genome.wustl.edu 37 2 210650864 210650864 + Silent SNP A A T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 2 210650864 210650864 A T SNP UNC80 ENST00000439458 human ensembl 74_37 +1 known silent c.675 p.G225 1.000 NULL NULL - no_errors UNC80 HGNC ENSG00000144406 58 0 0 70 7 9.09091 ERBB4 0 genome.wustl.edu 37 2 212285296 212285296 + Missense_Mutation SNP T T C TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 2 212285296 212285296 T C SNP ERBB4 ENST00000342788 human ensembl 74_37 -1 known missense c.3005 p.K1002R 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,superfamily_Kinase-like_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 ERBB4 HGNC ENSG00000178568 53 0 0 46 4 8 BARD1 0 genome.wustl.edu 37 2 215645475 215645475 + Missense_Mutation SNP T T C TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 2 215645475 215645475 T C SNP BARD1 ENST00000260947 human ensembl 74_37 -1 known missense c.1123 p.T375A 0.004 NULL pfam_Ankyrin_rpt,pfam_BRCT_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_BRCT_dom,smart_Ankyrin_rpt,smart_BRCT_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BRCT_dom,pfscan_Znf_RING,prints_Ankyrin_rpt - no_errors BARD1 HGNC ENSG00000138376 92 0 0 58 39 40.2062 MARCH4 0 genome.wustl.edu 37 2 217234942 217234942 + Missense_Mutation SNP G G C TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 2 217234942 217234942 G C SNP MARCH4 ENST00000273067 human ensembl 74_37 -1 known missense c.42 p.C14W 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH - no_errors MARCH4 HGNC ENSG00000144583 12 0 0 9 8 47.0588 TMEM198 0 genome.wustl.edu 37 2 220414535 220414535 + Nonsense_Mutation SNP G G T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 2 220414535 220414535 G T SNP TMEM198 ENST00000344458 human ensembl 74_37 +1 known nonsense c.1042 p.G348* 0.748 NULL NULL - no_errors TMEM198 HGNC ENSG00000188760 57 0 0 37 24 39.3443 TRIP12 0 genome.wustl.edu 37 2 230652352 230652352 + Missense_Mutation SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 2 230652352 230652352 G A SNP TRIP12 ENST00000283943 human ensembl 74_37 -1 known missense c.4639 p.R1547W 1.000 NULL pfam_HECT,superfamily_HECT,superfamily_ARM-type_fold,smart_HECT,pfscan_HECT,pfscan_WWE-dom - no_errors TRIP12 HGNC ENSG00000153827 35 0 0 32 19 37.2549 ACKR3 0 genome.wustl.edu 37 2 237489246 237489246 + Silent SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 2 237489246 237489246 G A SNP ACKR3 ENST00000272928 human ensembl 74_37 +1 known silent c.138 p.T46 0.997 prints_GPCR_Rhodpsn 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 27 0 0 22 14 38.8889 PER2 0 genome.wustl.edu 37 2 239159277 239159277 + Missense_Mutation SNP T T C TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 2 239159277 239159277 T C SNP PER2 ENST00000254657 human ensembl 74_37 -1 known missense c.3382 p.I1128V 0.989 pfam_Period_circadian-like_C pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,superfamily_PAS,smart_PAS,pfscan_PAS - no_errors PER2 HGNC ENSG00000132326 67 0 0 34 8 19.0476 KIF1A 0 genome.wustl.edu 37 2 241700703 241700703 + Missense_Mutation SNP C C A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 2 241700703 241700703 C A SNP KIF1A ENST00000498729 human ensembl 74_37 -1 known missense c.2208 p.W736C 1.000 NULL pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1A HGNC ENSG00000130294 84 0 0 62 35 36.0825 KIF1A 0 genome.wustl.edu 37 2 241726673 241726673 + Missense_Mutation SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 2 241726673 241726673 C T SNP KIF1A ENST00000498729 human ensembl 74_37 -1 known missense c.424 p.V142M 1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1A HGNC ENSG00000130294 46 0 0 19 21 52.5 DPYSL5 0 genome.wustl.edu 37 2 27157527 27157527 + Missense_Mutation SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 2 27157527 27157527 C T SNP DPYSL5 ENST00000288699 human ensembl 74_37 +1 known missense c.872 p.A291V 0.999 pfam_Amidohydro_1,tigrfam_Hydantoinase/dihydroPyrase pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors DPYSL5 HGNC ENSG00000157851 213 0 0 114 95 45.4545 WDR43 0 genome.wustl.edu 37 2 29135551 29135551 + Missense_Mutation SNP T T G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 2 29135551 29135551 T G SNP WDR43 ENST00000407426 human ensembl 74_37 +1 known missense c.581 p.V194G 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_SSU_processome_Utp12,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR43 HGNC ENSG00000163811 78 0 0 37 32 46.3768 C2orf71 0 genome.wustl.edu 37 2 29293519 29293519 + Silent SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 2 29293519 29293519 C T SNP C2orf71 ENST00000331664 human ensembl 74_37 -1 known silent c.3609 p.P1203 0.000 NULL NULL - no_errors C2orf71 HGNC ENSG00000179270 36 0 0 24 18 42.8571 CEBPZ 0 genome.wustl.edu 37 2 37455474 37455474 + Missense_Mutation SNP T T C TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 2 37455474 37455474 T C SNP CEBPZ ENST00000234170 human ensembl 74_37 -1 known missense c.862 p.T288A 1.000 NULL pfam_CCAAT-binding_factor,superfamily_ARM-type_fold - no_errors CEBPZ HGNC ENSG00000115816 52 0 0 48 4 7.69231 SRSF7 0 genome.wustl.edu 37 2 38977264 38977264 + Missense_Mutation SNP T T C TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 2 38977264 38977264 T C SNP SRSF7 ENST00000313117 human ensembl 74_37 -1 known missense c.101 p.Y34C 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,superfamily_Znf_CCHC,smart_RRM_dom,pfscan_Znf_CCHC,pfscan_RRM_dom - no_errors SRSF7 HGNC ENSG00000115875 83 0 0 66 40 37.7358 THUMPD2 0 genome.wustl.edu 37 2 39996850 39996850 + Missense_Mutation SNP C C A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 2 39996850 39996850 C A SNP THUMPD2 ENST00000505747 human ensembl 74_37 -1 known missense c.672 p.Q224H 1.000 pfam_THUMP,smart_THUMP,pfscan_THUMP pfam_RNA_methylase_dom,pfam_Methyltransf_11,pfam_THUMP,pfam_Small_mtfrase_dom,pfam_UbiE/COQ5_MeTrFase,smart_THUMP,pfscan_THUMP - no_errors THUMPD2 HGNC ENSG00000138050 99 0 0 51 31 37.8049 PKDCC 0 genome.wustl.edu 37 2 42275917 42275917 + Missense_Mutation SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 2 42275917 42275917 C T SNP PKDCC ENST00000294964 human ensembl 74_37 +1 known missense c.578 p.A193V 1.000 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,pfscan_Prot_kinase_dom - no_errors PKDCC HGNC ENSG00000162878 8 0 0 3 5 62.5 PKDCC 0 genome.wustl.edu 37 2 42284800 42284800 + Missense_Mutation SNP A A G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 2 42284800 42284800 A G SNP PKDCC ENST00000294964 human ensembl 74_37 +1 known missense c.1454 p.K485R 1.000 pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,pfscan_Prot_kinase_dom - no_errors PKDCC HGNC ENSG00000162878 47 0 0 20 17 45.9459 EML6 0 genome.wustl.edu 37 2 55130609 55130609 + Missense_Mutation SNP T T C TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 2 55130609 55130609 T C SNP EML6 ENST00000356458 human ensembl 74_37 +1 novel missense c.3379 p.Y1127H 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,pfam_HELP,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML6 HGNC ENSG00000214595 13 0 0 13 8 38.0952 PAPOLG 0 genome.wustl.edu 37 2 61022147 61022147 + Missense_Mutation SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 2 61022147 61022147 C T SNP PAPOLG ENST00000238714 human ensembl 74_37 +1 known missense c.2104 p.R702C 1.000 NULL 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 75 0 0 56 30 34.8837 XPO1 0 genome.wustl.edu 37 2 61721063 61721063 + Missense_Mutation SNP G G T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 2 61721063 61721063 G T SNP XPO1 ENST00000401558 human ensembl 74_37 -1 known missense c.1211 p.P404H 1.000 superfamily_ARM-type_fold pfam_CRM1_C_dom,pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors XPO1 HGNC ENSG00000082898 320 1 0.311526 207 106 33.8658 PELI1 0 genome.wustl.edu 37 2 64327600 64327600 + Missense_Mutation SNP A A G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 2 64327600 64327600 A G SNP PELI1 ENST00000358912 human ensembl 74_37 -1 known missense c.235 p.Y79H 0.997 pfam_Pellino_fam pfam_Pellino_fam - no_errors PELI1 HGNC ENSG00000197329 119 0 0 76 52 40.625 MPHOSPH10 0 genome.wustl.edu 37 2 71377061 71377061 + Silent SNP A A G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 2 71377061 71377061 A G SNP MPHOSPH10 ENST00000244230 human ensembl 74_37 +1 known silent c.1962 p.V654 0.141 pfam_Mpp10,pirsf_snoRNP_Mpp10 pfam_Mpp10,pirsf_snoRNP_Mpp10 - no_errors MPHOSPH10 HGNC ENSG00000124383 61 0 0 42 37 46.8354 ALMS1 0 genome.wustl.edu 37 2 73678505 73678505 + Silent SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 2 73678505 73678505 C T SNP ALMS1 ENST00000264448 human ensembl 74_37 +1 known silent c.4848 p.S1616 0.000 NULL NULL - no_errors ALMS1 HGNC ENSG00000116127 118 0 0 47 51 52.0408 LOXL3 0 genome.wustl.edu 37 2 74776634 74776634 + Missense_Mutation SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 2 74776634 74776634 G A SNP LOXL3 ENST00000264094 human ensembl 74_37 -1 known missense c.554 p.T185M 0.989 pfam_SRCR,smart_Srcr_rcpt-rel,pfscan_SRCR pfam_Lysyl_oxidase,pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_Lysyl_oxidase,prints_SRCR - no_errors LOXL3 HGNC ENSG00000115318 16 0 0 8 8 50 KCMF1 0 genome.wustl.edu 37 2 85280273 85280273 + Missense_Mutation SNP T T C TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 2 85280273 85280273 T C SNP KCMF1 ENST00000409785 human ensembl 74_37 +1 known missense c.887 p.L296S 1.000 NULL 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 27 0 0 17 6 26.087 POLR1A 0 genome.wustl.edu 37 2 86315957 86315957 + Missense_Mutation SNP C C A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 2 86315957 86315957 C A SNP POLR1A ENST00000263857 human ensembl 74_37 -1 known missense c.577 p.A193S 0.233 pfam_RNA_pol_Rpb1_1 pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_Rpb1_1,smart_RNA_pol_N - no_errors POLR1A HGNC ENSG00000068654 74 0 0 40 43 51.8072 ARID5A 0 genome.wustl.edu 37 2 97217702 97217702 + Silent SNP A A C TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 2 97217702 97217702 A C SNP ARID5A ENST00000357485 human ensembl 74_37 +1 known silent c.1437 p.A479 0.004 NULL pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID5A HGNC ENSG00000196843 13 0 0 7 4 36.3636 BTBD3 0 genome.wustl.edu 37 20 11898985 11898985 + Missense_Mutation SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 20 11898985 11898985 C T SNP BTBD3 ENST00000378226 human ensembl 74_37 +1 known missense c.62 p.T21M 1.000 NULL pfam_PHR,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors BTBD3 HGNC ENSG00000132640 288 0 0 303 121 28.5377 DTD1 0 genome.wustl.edu 37 20 18608856 18608856 + Silent SNP T T C TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 20 18608856 18608856 T C SNP DTD1 ENST00000377452 human ensembl 74_37 +1 known silent c.456 p.T152 0.002 NULL pfam_DTyrtRNA_deacyls,superfamily_DTD-like_dom,tigrfam_DTyrtRNA_deacyls - no_errors DTD1 HGNC ENSG00000125821 45 0 0 40 7 14.8936 GZF1 0 genome.wustl.edu 37 20 23345800 23345800 + Silent SNP T T C TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 20 23345800 23345800 T C SNP GZF1 ENST00000338121 human ensembl 74_37 +1 known silent c.780 p.C260 0.000 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 GZF1 HGNC ENSG00000125812 88 0 0 90 5 5.26316 NCOR1P1 0 genome.wustl.edu 37 20 26084304 26084304 + RNA SNP G G T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 20 26084304 26084304 G T SNP NCOR1P1 ENST00000478176 human ensembl 74_37 -1 known rna NULL NULL 0.994 - - - no_errors NCOR1P1 HGNC ENSG00000240108 54 0 0 67 13 16.25 TPX2 0 genome.wustl.edu 37 20 30345300 30345300 + Silent SNP T T G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 20 30345300 30345300 T G SNP TPX2 ENST00000340513 human ensembl 74_37 +1 known silent c.21 p.S7 0.959 pfam_Aurora-A-bd pfam_TPX2_central_dom,pfam_Aurora-A-bd,pfam_TPX2_dom_C - no_errors TPX2 HGNC ENSG00000088325 79 0 0 103 20 16.2602 MYLK2 0 genome.wustl.edu 37 20 30411335 30411335 + Silent SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 20 30411335 30411335 C T SNP MYLK2 ENST00000375985 human ensembl 74_37 +1 known silent c.828 p.T276 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 MYLK2 HGNC ENSG00000101306 103 0 0 104 38 26.7606 SAMHD1 0 genome.wustl.edu 37 20 35521337 35521337 + Nonstop_Mutation SNP A A C TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 20 35521337 35521337 A C SNP SAMHD1 ENST00000262878 human ensembl 74_37 -1 known nonstop c.1879 p.*627G 0.009 NULL pfam_HD_domain,pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,smart_HD/PDEase_dom,pfscan_SAM - no_errors SAMHD1 HGNC ENSG00000101347 122 0 0 111 34 23.4483 SIGLEC1 0 genome.wustl.edu 37 20 3686656 3686656 + Silent SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 20 3686656 3686656 C T SNP SIGLEC1 ENST00000344754 human ensembl 74_37 -1 known silent c.441 p.P147 0.000 pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIGLEC1 HGNC ENSG00000088827 67 0 0 59 17 22.3684 ADRA1D 0 genome.wustl.edu 37 20 4202221 4202221 + Silent SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 20 4202221 4202221 G A SNP ADRA1D ENST00000379453 human ensembl 74_37 -1 known silent c.1668 p.C556 1.000 prints_ADRA1D_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_ADRA1D_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam,pfscan_GPCR_Rhodpsn_7TM - no_errors ADRA1D HGNC ENSG00000171873 26 0 0 34 20 37.037 SERINC3 0 genome.wustl.edu 37 20 43142670 43142670 + Silent SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 20 43142670 43142670 G A SNP SERINC3 ENST00000255175 human ensembl 74_37 -1 known silent c.51 p.L17 0.989 pfam_TMS_TDE pfam_TMS_TDE - no_errors SERINC3 HGNC ENSG00000132824 97 0 0 76 40 34.4828 SYS1 0 genome.wustl.edu 37 20 43995615 43995615 + Missense_Mutation SNP T T G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 20 43995615 43995615 T G SNP SYS1 ENST00000243918 human ensembl 74_37 +1 known missense c.331 p.S111A 1.000 pfam_Integral_membrane_SYS1-rel,pirsf_Integral_membrane_SYS1 pfam_Integral_membrane_SYS1-rel,pirsf_Integral_membrane_SYS1 - no_errors SYS1 HGNC ENSG00000204070 95 0 0 123 8 6.10687 ZSWIM3 0 genome.wustl.edu 37 20 44486535 44486535 + Missense_Mutation SNP A A C TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 20 44486535 44486535 A C SNP ZSWIM3 ENST00000255152 human ensembl 74_37 +1 known missense c.71 p.N24T 1.000 NULL pfam_Znf_SWIM,pfam_MULE_transposase_dom,pfam_Transposase,smart_Znf_PMZ,pfscan_Znf_SWIM - no_errors ZSWIM3 HGNC ENSG00000132801 143 1 0.694444 164 57 25.7919 EYA2 0 genome.wustl.edu 37 20 45702826 45702826 + Missense_Mutation SNP G G T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 20 45702826 45702826 G T SNP EYA2 ENST00000327619 human ensembl 74_37 +1 known missense c.513 p.Q171H 1.000 NULL pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA - no_errors EYA2 HGNC ENSG00000064655 76 0 0 74 20 21.2766 PREX1 0 genome.wustl.edu 37 20 47262549 47262549 + Missense_Mutation SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 20 47262549 47262549 C T SNP PREX1 ENST00000371941 human ensembl 74_37 -1 known missense c.3352 p.A1118T 0.010 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 42 0 0 30 12 28.5714 ARFGEF2 0 genome.wustl.edu 37 20 47589799 47589799 + Missense_Mutation SNP A A C TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 20 47589799 47589799 A C SNP ARFGEF2 ENST00000371917 human ensembl 74_37 +1 known missense c.1643 p.E548A 1.000 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 ARFGEF2 HGNC ENSG00000124198 48 0 0 77 7 8.33333 PTGIS 0 genome.wustl.edu 37 20 48166644 48166644 + Missense_Mutation SNP A A G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 20 48166644 48166644 A G SNP PTGIS ENST00000244043 human ensembl 74_37 -1 known missense c.157 p.F53L 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I - no_errors PTGIS HGNC ENSG00000124212 64 0 0 49 16 24.6154 FAM65C 0 genome.wustl.edu 37 20 49225479 49225479 + Silent SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 20 49225479 49225479 G A SNP FAM65C ENST00000535356 human ensembl 74_37 -1 known silent c.654 p.Y218 0.992 NULL superfamily_ARM-type_fold,superfamily_Chemokine_IL8-like_dom - no_errors FAM65C HGNC ENSG00000042062 8 0 0 10 9 47.3684 PFDN4 0 genome.wustl.edu 37 20 52830939 52830939 + Missense_Mutation SNP A A C TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 20 52830939 52830939 A C SNP PFDN4 ENST00000441080 human ensembl 74_37 +1 known missense c.74 p.K25T 1.000 pfam_PFD_beta-like,superfamily_Prefoldin,pirsf_PFDN4 pfam_PFD_beta-like,superfamily_Prefoldin,pirsf_PFDN4 - no_errors PFDN4 HGNC ENSG00000101132 28 0 0 29 7 19.4444 CASS4 0 genome.wustl.edu 37 20 55027197 55027197 + Missense_Mutation SNP C C A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 20 55027197 55027197 C A SNP CASS4 ENST00000360314 human ensembl 74_37 +1 known missense c.965 p.P322H 0.001 NULL pfam_Serine_rich,pfam_CAS_DUF3513,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors CASS4 HGNC ENSG00000087589 91 0 0 97 17 14.9123 STX16-NPEPL1 0 genome.wustl.edu 37 20 57243094 57243094 + Missense_Mutation SNP C C A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 20 57243094 57243094 C A SNP STX16-NPEPL1 ENST00000530122 human ensembl 74_37 +1 known missense c.304 p.L102I 1.000 pfam_Syntaxin_N,superfamily_t-SNARE pfam_T_SNARE_dom,pfam_Syntaxin_N,superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors STX16-NPEPL1 HGNC ENSG00000254995 100 0 0 136 28 17.0732 CHGB 0 genome.wustl.edu 37 20 5904215 5904215 + Silent SNP T T C TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 20 5904215 5904215 T C SNP CHGB ENST00000378961 human ensembl 74_37 +1 known silent c.1425 p.G475 0.090 pfam_Granin pfam_Granin,prints_Chromogranin_AB - no_errors CHGB HGNC ENSG00000089199 102 0 0 136 9 6.2069 ZBTB46 0 genome.wustl.edu 37 20 62407094 62407094 + Missense_Mutation SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 20 62407094 62407094 C T SNP ZBTB46 ENST00000245663 human ensembl 74_37 -1 known missense c.1159 p.V387M 0.999 NULL pfam_BTB_POZ,pfam_DUF3342,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB46 HGNC ENSG00000130584 48 0 0 47 17 26.5625 OPRL1 0 genome.wustl.edu 37 20 62730104 62730104 + Silent SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 20 62730104 62730104 C T SNP OPRL1 ENST00000336866 human ensembl 74_37 +1 known silent c.1065 p.D355 0.960 prints_X_opioid_rcpt 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_X_opioid_rcpt,prints_GPCR_Rhodpsn,prints_Opioid_rcpt,prints_Somatstn_rcpt,prints_Neuropept_B/W_rcpt,prints_NPY_rcpt - no_errors OPRL1 HGNC ENSG00000125510 50 0 0 43 19 30.6452 TPTE 0 genome.wustl.edu 37 21 10951287 10951287 + Missense_Mutation SNP A A C TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 21 10951287 10951287 A C SNP TPTE ENST00000361285 human ensembl 74_37 -1 known missense c.425 p.L142R 0.963 pfam_Ion_trans_dom pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Ion_trans_dom,superfamily_C2_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TPTE HGNC ENSG00000166157 134 0 0 159 10 5.91716 ADAMTS5 0 genome.wustl.edu 37 21 28338331 28338331 + Missense_Mutation SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 21 28338331 28338331 C T SNP ADAMTS5 ENST00000284987 human ensembl 74_37 -1 known missense c.380 p.R127Q 1.000 pfam_Peptidase_M12B_N pfam_ADAM_spacer1,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS5,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS5 HGNC ENSG00000154736 31 0 0 23 13 36.1111 LTN1 0 genome.wustl.edu 37 21 30316746 30316746 + Missense_Mutation SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 21 30316746 30316746 C T SNP LTN1 ENST00000389194 human ensembl 74_37 -1 known missense c.4079 p.G1360D 1.000 NULL pfam_Znf_C3HC4_RING-type,superfamily_ARM-type_fold,smart_Znf_RING-CH,pfscan_Znf_RING - no_errors LTN1 HGNC ENSG00000198862 112 0 0 101 19 15.8333 KRTAP19-5 0 genome.wustl.edu 37 21 31874258 31874258 + Missense_Mutation SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 21 31874258 31874258 C T SNP KRTAP19-5 ENST00000334151 human ensembl 74_37 -1 known missense c.151 p.G51R 0.129 pfam_KRTAP_type6/8/16/19/20 pfam_KRTAP_type6/8/16/19/20 - no_errors KRTAP19-5 HGNC ENSG00000186977 155 0 0 71 50 41.3223 DOPEY2 0 genome.wustl.edu 37 21 37605234 37605234 + Missense_Mutation SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 21 37605234 37605234 C T SNP DOPEY2 ENST00000399151 human ensembl 74_37 +1 known missense c.2483 p.A828V 0.998 NULL pfam_Dopey_N - no_errors DOPEY2 HGNC ENSG00000142197 116 0 0 63 44 41.1215 MORC3 0 genome.wustl.edu 37 21 37710204 37710204 + Silent SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 21 37710204 37710204 G A SNP MORC3 ENST00000400485 human ensembl 74_37 +1 known silent c.420 p.A140 0.980 superfamily_HATPase_ATP-bd pfam_Znf_CW,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,pfscan_Znf_CW - no_errors MORC3 HGNC ENSG00000159256 95 0 0 65 48 42.4779 ADARB1 0 genome.wustl.edu 37 21 46595860 46595860 + Missense_Mutation SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 21 46595860 46595860 G A SNP ADARB1 ENST00000360697 human ensembl 74_37 +1 known missense c.244 p.A82T 1.000 pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom 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 146 0 0 97 48 33.1034 CDC45 0 genome.wustl.edu 37 22 19495010 19495010 + Missense_Mutation SNP A A G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 22 19495010 19495010 A G SNP CDC45 ENST00000437685 human ensembl 74_37 +1 known missense c.1022 p.K341R 1.000 pfam_CDC45 pfam_CDC45 - no_errors CDC45 HGNC ENSG00000093009 55 0 0 55 36 39.5604 COMT 0 genome.wustl.edu 37 22 19951793 19951793 + Missense_Mutation SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 22 19951793 19951793 C T SNP COMT ENST00000361682 human ensembl 74_37 +1 known missense c.586 p.R196W 0.899 pfam_O-MeTrfase_3,pirsf_Catechol_O-MeTrfase_euk pfam_O-MeTrfase_3,pirsf_Catechol_O-MeTrfase_euk - no_errors COMT HGNC ENSG00000093010 54 0 0 36 25 40.9836 TRMT2A 0 genome.wustl.edu 37 22 20103762 20103762 + Missense_Mutation SNP A A G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 22 20103762 20103762 A G SNP TRMT2A ENST00000252136 human ensembl 74_37 -1 known missense c.398 p.L133P 0.978 pfscan_RRM_dom pfam_U5_MeTrfase,pfam_PCMT,pfam_Small_mtfrase_dom,pfam_RNA_methylase_dom,pfam_RNA_MeTrfase_RsmD,pfam_Methyltransf_11,pfam_tRNA_(Gua-N-7)_MeTrfase,pfam_UbiE/COQ5_MeTrFase,pfscan_RRM_dom - no_errors TRMT2A HGNC ENSG00000099899 37 0 0 18 16 47.0588 HIC2 0 genome.wustl.edu 37 22 21800714 21800714 + Silent SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 22 21800714 21800714 C T SNP HIC2 ENST00000407464 human ensembl 74_37 +1 known silent c.1530 p.C510 0.987 smart_Znf_C2H2-like,pfscan_Znf_C2H2 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 HIC2 HGNC ENSG00000169635 42 0 0 20 25 55.5556 HSCB 0 genome.wustl.edu 37 22 29141880 29141880 + Missense_Mutation SNP A A G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 22 29141880 29141880 A G SNP HSCB ENST00000216027 human ensembl 74_37 +1 known missense c.452 p.E151G 0.998 superfamily_HscB_oligo_C,tigrfam_HscB pfam_HscB_oligo_C,pfam_DnaJ_domain,superfamily_DnaJ_domain,superfamily_HscB_oligo_C,tigrfam_HscB - no_errors HSCB HGNC ENSG00000100209 99 0 0 53 35 39.7727 NEFH 0 genome.wustl.edu 37 22 29885456 29885456 + Missense_Mutation SNP G G T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 22 29885456 29885456 G T SNP NEFH ENST00000310624 human ensembl 74_37 +1 known missense c.1827 p.K609N 0.995 pfam_DUF1388 pfam_IF,pfam_DUF1388 - no_errors NEFH HGNC ENSG00000100285 177 0 0 96 57 37.2549 CABP7 0 genome.wustl.edu 37 22 30125551 30125551 + Missense_Mutation SNP T T C TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 22 30125551 30125551 T C SNP CABP7 ENST00000216144 human ensembl 74_37 +1 known missense c.641 p.M214T 1.000 NULL pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors CABP7 HGNC ENSG00000100314 44 0 0 33 16 32.6531 TBC1D10A 0 genome.wustl.edu 37 22 30695501 30695501 + Missense_Mutation SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 22 30695501 30695501 G A SNP TBC1D10A ENST00000215790 human ensembl 74_37 -1 known missense c.349 p.R117W 1.000 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 TBC1D10A HGNC ENSG00000099992 47 0 0 29 24 45.283 MCM5 0 genome.wustl.edu 37 22 35812348 35812348 + Missense_Mutation SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 22 35812348 35812348 G A SNP MCM5 ENST00000216122 human ensembl 74_37 +1 known missense c.1364 p.R455H 1.000 pfam_MCM_DNA-dep_ATPase,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase pfam_MCM_DNA-dep_ATPase,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM5,prints_MCM_DNA-dep_ATPase - no_errors MCM5 HGNC ENSG00000100297 115 0 0 62 40 39.2157 FOXRED2 0 genome.wustl.edu 37 22 36902271 36902271 + Missense_Mutation SNP T T C TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 22 36902271 36902271 T C SNP FOXRED2 ENST00000216187 human ensembl 74_37 -1 known missense c.199 p.S67G 1.000 pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD - no_errors FOXRED2 HGNC ENSG00000100350 31 0 0 16 7 30.4348 GRAP2 0 genome.wustl.edu 37 22 40366977 40366977 + Silent SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 22 40366977 40366977 C T SNP GRAP2 ENST00000344138 human ensembl 74_37 +1 known silent c.882 p.S294 0.005 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain pfam_SH3_domain,pfam_SH2,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,pfscan_SH2,pfscan_SH3_domain,prints_SH2,prints_SH3_domain - no_errors GRAP2 HGNC ENSG00000100351 35 0 0 23 21 47.7273 TOB2 0 genome.wustl.edu 37 22 41832689 41832689 + Missense_Mutation SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 22 41832689 41832689 G A SNP TOB2 ENST00000327492 human ensembl 74_37 -1 known missense c.661 p.R221C 0.998 NULL pfam_Anti_prolifrtn,pfam_Ataxin-2_C,smart_Anti_prolifrtn,prints_Anti_prolifrtn - no_errors TOB2 HGNC ENSG00000183864 21 0 0 8 12 60 PMM1 0 genome.wustl.edu 37 22 41973879 41973879 + Missense_Mutation SNP T T C TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 22 41973879 41973879 T C SNP PMM1 ENST00000216259 human ensembl 74_37 -1 known missense c.599 p.Y200C 1.000 pfam_PMM,pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IIB pfam_PMM,pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IIB - no_errors PMM1 HGNC ENSG00000100417 60 0 0 31 25 44.6429 SERHL 0 genome.wustl.edu 37 22 42896655 42896655 + RNA SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 22 42896655 42896655 G A SNP SERHL ENST00000359906 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors SERHL HGNC ENSG00000172250 23 0 0 22 9 29.0323 PNPLA5 0 genome.wustl.edu 37 22 44277498 44277498 + Missense_Mutation SNP A A G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 22 44277498 44277498 A G SNP PNPLA5 ENST00000216177 human ensembl 74_37 -1 known missense c.1139 p.L380P 0.008 NULL pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase - no_errors PNPLA5 HGNC ENSG00000100341 21 0 0 14 9 39.1304 ARHGAP8 0 genome.wustl.edu 37 22 45182488 45182488 + Splice_Site SNP T T C TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 22 45182488 45182488 T C SNP ARHGAP8 ENST00000517296 human ensembl 74_37 +1 known splice_site c.841+2 e8+2 0.838 - - - no_errors ARHGAP8 HGNC ENSG00000241484 24 0 0 15 5 25 SENP7 0 genome.wustl.edu 37 3 101136515 101136515 + Missense_Mutation SNP A A G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 3 101136515 101136515 A G SNP SENP7 ENST00000394095 human ensembl 74_37 -1 known missense c.404 p.L135S 1.000 NULL pfam_Peptidase_C48,pfscan_Peptidase_C48 - no_errors SENP7 HGNC ENSG00000138468 150 0 0 114 19 14.2857 ATP2B2 0 genome.wustl.edu 37 3 10370646 10370646 + Missense_Mutation SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 3 10370646 10370646 G A SNP ATP2B2 ENST00000352432 human ensembl 74_37 -1 known missense c.3584 p.A1195V 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 66 0 0 44 29 39.726 DRD3 0 genome.wustl.edu 37 3 113847734 113847734 + Silent SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 3 113847734 113847734 G A SNP DRD3 ENST00000383673 human ensembl 74_37 -1 known silent c.1032 p.P344 0.428 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Dopamine_D3_rcpt,prints_GPCR_Rhodpsn,prints_Dopamine_rcpt - no_errors DRD3 HGNC ENSG00000151577 190 0 0 90 65 41.9355 KLF15 0 genome.wustl.edu 37 3 126070902 126070902 + Silent SNP G G T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 3 126070902 126070902 G T SNP KLF15 ENST00000296233 human ensembl 74_37 -1 known silent c.864 p.A288 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF15 HGNC ENSG00000163884 8 0 0 5 4 44.4444 MKRN2 0 genome.wustl.edu 37 3 12611711 12611711 + Silent SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 3 12611711 12611711 C T SNP MKRN2 ENST00000170447 human ensembl 74_37 +1 known silent c.297 p.P99 0.969 NULL pfam_Znf_CCCH,smart_Znf_CCCH,smart_Znf_RING,pfscan_Znf_RING - no_errors MKRN2 HGNC ENSG00000075975 36 0 0 40 3 6.97674 PLXNA1 0 genome.wustl.edu 37 3 126710241 126710241 + Silent SNP T T C TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 3 126710241 126710241 T C SNP PLXNA1 ENST00000393409 human ensembl 74_37 +1 known silent c.1209 p.D403 0.974 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 PLXNA1 HGNC ENSG00000114554 36 0 0 15 9 37.5 NMNAT3 0 genome.wustl.edu 37 3 139280118 139280118 + Missense_Mutation SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 3 139280118 139280118 C T SNP NMNAT3 ENST00000296202 human ensembl 74_37 -1 known missense c.493 p.V165M 1.000 pfam_Cyt_trans-like,tigrfam_NAMN_adtrnsfrase pfam_Cyt_trans-like,tigrfam_NAMN_adtrnsfrase - no_errors NMNAT3 HGNC ENSG00000163864 45 0 0 20 14 41.1765 HPS3 0 genome.wustl.edu 37 3 148872996 148872996 + Missense_Mutation SNP A A C TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 3 148872996 148872996 A C SNP HPS3 ENST00000296051 human ensembl 74_37 +1 known missense c.1503 p.K501N 1.000 pirsf_HPS3 pirsf_HPS3 - no_errors HPS3 HGNC ENSG00000163755 56 0 0 36 20 35.7143 KCNAB1 0 genome.wustl.edu 37 3 155838663 155838663 + Missense_Mutation SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 3 155838663 155838663 G A SNP KCNAB1 ENST00000490337 human ensembl 74_37 +1 known missense c.263 p.G88D 1.000 superfamily_NADP_OxRdtase_dom pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_K_chnl_volt-dep_bsu_KCNAB-rel,prints_K_chnl_volt-dep_bsu_KCNAB1,prints_K_chnl_volt-dep_bsu_KCNAB3,tigrfam_K_chnl_volt-dep_bsu_KCNAB - no_errors KCNAB1 HGNC ENSG00000169282 36 0 0 33 3 8.33333 SLC7A14 0 genome.wustl.edu 37 3 170244644 170244644 + Missense_Mutation SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 3 170244644 170244644 G A SNP SLC7A14 ENST00000231706 human ensembl 74_37 -1 known missense c.82 p.R28C 1.000 NULL pfam_AA-permease/SLC12A_dom - no_errors SLC7A14 HGNC ENSG00000013293 23 0 0 23 16 41.0256 CCDC39 0 genome.wustl.edu 37 3 180365986 180365986 + Missense_Mutation SNP T T G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 3 180365986 180365986 T G SNP CCDC39 ENST00000442201 human ensembl 74_37 -1 known missense c.1329 p.E443D 1.000 NULL superfamily_Prefoldin,superfamily_tRNA-bd_arm - no_errors CCDC39 HGNC ENSG00000145075 39 0 0 25 12 32.4324 MCCC1 0 genome.wustl.edu 37 3 182790190 182790190 + Missense_Mutation SNP G G T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 3 182790190 182790190 G T SNP MCCC1 ENST00000265594 human ensembl 74_37 -1 known missense c.455 p.P152H 1.000 pfam_CarbamoylP_synth_lsu_N,superfamily_PreATP-grasp_dom,pfscan_Biotin_carboxylation_dom pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_carboxylate-amine,pfam_ATP-grasp_RimK-type,pfam_ATP-grasp_DUF201-type,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_Biotin_lipoyl - no_errors MCCC1 HGNC ENSG00000078070 48 0 0 32 29 47.541 ALG3 0 genome.wustl.edu 37 3 183963113 183963113 + Missense_Mutation SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 3 183963113 183963113 C T SNP ALG3 ENST00000397676 human ensembl 74_37 -1 known missense c.478 p.A160T 1.000 pfam_Glycosyltransferase_ALG3 pfam_Glycosyltransferase_ALG3 - no_errors ALG3 HGNC ENSG00000214160 37 0 0 23 6 20.6897 EIF4G1 0 genome.wustl.edu 37 3 184045694 184045694 + Missense_Mutation SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 3 184045694 184045694 C T SNP EIF4G1 ENST00000352767 human ensembl 74_37 +1 known missense c.3878 p.T1293M 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 EIF4G1 HGNC ENSG00000114867 69 0 0 28 18 39.1304 ATP13A3 0 genome.wustl.edu 37 3 194147839 194147839 + Silent SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 3 194147839 194147839 C T SNP ATP13A3 ENST00000256031 human ensembl 74_37 -1 known silent c.3090 p.Q1030 0.993 tigrfam_ATPase_P-typ_Cation_typ_V pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_Cation_typ_V,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,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 ATP13A3 HGNC ENSG00000133657 56 0 0 39 15 27.7778 MUC4 0 genome.wustl.edu 37 3 195510030 195510030 + Silent SNP C C G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 3 195510030 195510030 C G SNP MUC4 ENST00000463781 human ensembl 74_37 -1 known silent c.8421 p.S2807 0.690 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 47 0 0 33 5 13.1579 MFI2 0 genome.wustl.edu 37 3 196736658 196736658 + Silent SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 3 196736658 196736658 G A SNP MFI2 ENST00000296350 human ensembl 74_37 -1 known silent c.1356 p.Y452 1.000 pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin,prints_Transferrin_fam - no_errors MFI2 HGNC ENSG00000163975 49 0 0 37 26 41.2698 CNTN4 0 genome.wustl.edu 37 3 3095601 3095601 + Silent SNP A A G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 3 3095601 3095601 A G SNP CNTN4 ENST00000397461 human ensembl 74_37 +1 known silent c.2922 p.P974 0.977 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 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 CNTN4 HGNC ENSG00000144619 66 0 0 45 29 39.1892 GPD1L 0 genome.wustl.edu 37 3 32181769 32181769 + Missense_Mutation SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 3 32181769 32181769 G A SNP GPD1L ENST00000282541 human ensembl 74_37 +1 known missense c.416 p.R139H 0.984 pfam_G3P_DH_NAD-dep_N,pirsf_G3P_DH_NAD-dep,tigrfam_G3P_DH_NAD-dep_euk pfam_G3P_DH_NAD-dep_C,pfam_G3P_DH_NAD-dep_N,superfamily_6-PGluconate_DH_C-like,pirsf_G3P_DH_NAD-dep,prints_G3P_DH_NAD-dep,tigrfam_G3P_DH_NAD-dep_euk - no_errors GPD1L HGNC ENSG00000152642 134 0 0 70 56 44.4444 CHL1 0 genome.wustl.edu 37 3 419520 419520 + Missense_Mutation SNP A A G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 3 419520 419520 A G SNP CHL1 ENST00000256509 human ensembl 74_37 +1 known missense c.1771 p.N591D 0.680 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom 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 CHL1 HGNC ENSG00000134121 78 0 0 62 28 31.1111 CCR2 0 genome.wustl.edu 37 3 46399019 46399019 + Missense_Mutation SNP A A G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 3 46399019 46399019 A G SNP CCR2 ENST00000292301 human ensembl 74_37 +1 known missense c.1 p.M1V 0.015 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CCR2 - no_errors CCR2 HGNC ENSG00000121807 105 0 0 109 17 13.4921 P4HTM 0 genome.wustl.edu 37 3 49040002 49040002 + Missense_Mutation SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 3 49040002 49040002 G A SNP P4HTM ENST00000343546 human ensembl 74_37 +1 known missense c.697 p.A233T 0.995 smart_Pro_4_hyd_alph pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors P4HTM HGNC ENSG00000178467 145 0 0 82 41 33.3333 AMIGO3 0 genome.wustl.edu 37 3 49755859 49755859 + Missense_Mutation SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 3 49755859 49755859 G A SNP AMIGO3 ENST00000320431 human ensembl 74_37 -1 known missense c.1040 p.A347V 0.184 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors AMIGO3 HGNC ENSG00000176020 17 0 0 16 5 23.8095 TLR9 0 genome.wustl.edu 37 3 52255367 52255367 + Missense_Mutation SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 3 52255367 52255367 G A SNP TLR9 ENST00000597542 human ensembl 74_37 -1 known missense c.3037 p.R1013C 1.000 pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom pfam_Leu-rich_rpt,pfam_TIR_dom,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR9 HGNC ENSG00000239732 31 0 0 21 16 43.2432 GLYCTK 0 genome.wustl.edu 37 3 52325846 52325846 + Missense_Mutation SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 3 52325846 52325846 C T SNP GLYCTK ENST00000436784 human ensembl 74_37 +1 known missense c.613 p.R205C 0.181 NULL pfam_MOFRL - no_errors GLYCTK HGNC ENSG00000168237 52 0 0 29 23 44.2308 NISCH 0 genome.wustl.edu 37 3 52525384 52525384 + Missense_Mutation SNP G G T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 3 52525384 52525384 G T SNP NISCH ENST00000345716 human ensembl 74_37 +1 known missense c.3759 p.Q1253H 1.000 NULL pfam_Phox,pfam_Leu-rich_rpt,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors NISCH HGNC ENSG00000010322 42 0 0 21 15 41.6667 WNT5A 0 genome.wustl.edu 37 3 55508438 55508438 + Missense_Mutation SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 3 55508438 55508438 C T SNP WNT5A ENST00000264634 human ensembl 74_37 -1 known missense c.611 p.R204H 1.000 pfam_Wnt,smart_Wnt pfam_Wnt,smart_Wnt,prints_Wnt - no_errors WNT5A HGNC ENSG00000114251 10 0 0 7 5 41.6667 ACOX2 0 genome.wustl.edu 37 3 58516335 58516335 + Missense_Mutation SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 3 58516335 58516335 C T SNP ACOX2 ENST00000302819 human ensembl 74_37 -1 known missense c.850 p.G284S 0.743 pirsf_Acyl-CoA_oxidase pfam_Acyl-CoA_oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCo_DH/oxidase_C,superfamily_AcylCoA_DH/oxidase_NM_dom,pirsf_Acyl-CoA_oxidase - no_errors ACOX2 HGNC ENSG00000168306 45 0 0 25 6 19.3548 PTPRG 0 genome.wustl.edu 37 3 62204651 62204651 + Missense_Mutation SNP A A G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 3 62204651 62204651 A G SNP PTPRG ENST00000474889 human ensembl 74_37 +1 known missense c.2282 p.Y761C 1.000 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 135 0 0 80 51 38.9313 SYNPR 0 genome.wustl.edu 37 3 63542315 63542315 + Silent SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 3 63542315 63542315 C T SNP SYNPR ENST00000478300 human ensembl 74_37 +1 known silent c.306 p.F102 0.943 pfam_Marvel,prints_Synaptophysin/porin pfam_Marvel,prints_Synaptophysin/porin - no_errors SYNPR HGNC ENSG00000163630 40 0 0 24 16 40 ATXN7 0 genome.wustl.edu 37 3 63981263 63981263 + Missense_Mutation SNP T T C TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 3 63981263 63981263 T C SNP ATXN7 ENST00000398590 human ensembl 74_37 +1 known missense c.1765 p.C589R 0.009 NULL pfam_SCA7_dom - no_errors ATXN7 HGNC ENSG00000163635 85 0 0 57 35 38.0435 FOXP1 0 genome.wustl.edu 37 3 71027093 71027093 + Missense_Mutation SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 3 71027093 71027093 C T SNP FOXP1 ENST00000318789 human ensembl 74_37 -1 known missense c.1234 p.A412T 0.991 NULL pfam_TF_fork_head,smart_TF_fork_head,prints_TF_fork_head,pfscan_TF_fork_head - no_errors FOXP1 HGNC ENSG00000114861 103 1 0.961538 67 34 33.6634 FOXP1 0 genome.wustl.edu 37 3 71247410 71247410 + Silent SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 3 71247410 71247410 C T SNP FOXP1 ENST00000318789 human ensembl 74_37 -1 known silent c.123 p.T41 0.119 NULL pfam_TF_fork_head,smart_TF_fork_head,prints_TF_fork_head,pfscan_TF_fork_head - no_errors FOXP1 HGNC ENSG00000114861 55 0 0 30 34 53.125 NSUN3 0 genome.wustl.edu 37 3 93803180 93803180 + Missense_Mutation SNP G G C TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 3 93803180 93803180 G C SNP NSUN3 ENST00000314622 human ensembl 74_37 +1 known missense c.352 p.A118P 1.000 pfam_Fmu/NOL1/Nop2p pfam_Fmu/NOL1/Nop2p,prints_RCMT - no_errors NSUN3 HGNC ENSG00000178694 76 0 0 57 25 30.4878 IL17RE 0 genome.wustl.edu 37 3 9944618 9944618 + Missense_Mutation SNP T T C TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 3 9944618 9944618 T C SNP IL17RE ENST00000421412 human ensembl 74_37 +1 known missense c.101 p.M34T 1.000 NULL pfam_SEFIR - no_errors IL17RE HGNC ENSG00000163701 45 0 0 39 24 38.0952 NPNT 0 genome.wustl.edu 37 4 106819158 106819158 + Missense_Mutation SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 4 106819158 106819158 C T SNP NPNT ENST00000379987 human ensembl 74_37 +1 known missense c.172 p.P58S 1.000 NULL pfam_MAM_dom,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_TIL_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_MAM_dom,pfscan_EG-like_dom,pfscan_MAM_dom - no_errors NPNT HGNC ENSG00000168743 25 0 0 28 11 28.2051 PAPSS1 0 genome.wustl.edu 37 4 108603286 108603286 + Missense_Mutation SNP A A G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 4 108603286 108603286 A G SNP PAPSS1 ENST00000265174 human ensembl 74_37 -1 known missense c.554 p.F185S 1.000 pfam_APS_kinase,superfamily_P-loop_NTPase,tigrfam_APS_kinase pfam_Sulfurylase_cat_dom,pfam_APS_kinase,superfamily_PUA-like_domain,superfamily_P-loop_NTPase,tigrfam_Sulphate_adenylyltransferase,tigrfam_APS_kinase - no_errors PAPSS1 HGNC ENSG00000138801 87 0 0 46 35 43.2099 BBS7 0 genome.wustl.edu 37 4 122756413 122756413 + Missense_Mutation SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 4 122756413 122756413 C T SNP BBS7 ENST00000264499 human ensembl 74_37 -1 known missense c.1397 p.G466D 1.000 pirsf_Bardet-Biedl_syndrome_7_prot superfamily_WD40_repeat_dom,pirsf_Bardet-Biedl_syndrome_7_prot - no_errors BBS7 HGNC ENSG00000138686 72 0 0 39 29 42.6471 FAT4 0 genome.wustl.edu 37 4 126239199 126239199 + Missense_Mutation SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 4 126239199 126239199 G A SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.1633 p.A545T 0.991 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_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 37 0 0 40 4 9.09091 FAT4 0 genome.wustl.edu 37 4 126370559 126370559 + Silent SNP T T G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 4 126370559 126370559 T G SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known silent c.8388 p.T2796 0.876 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_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 136 0 0 81 48 37.2093 FAT4 0 genome.wustl.edu 37 4 126411350 126411350 + Missense_Mutation SNP C C A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 4 126411350 126411350 C A SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.13373 p.T4458K 0.998 smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 72 0 0 34 22 39.2857 RAB28 0 genome.wustl.edu 37 4 13371528 13371528 + Missense_Mutation SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 4 13371528 13371528 G A SNP RAB28 ENST00000288723 human ensembl 74_37 -1 known missense c.635 p.T212I 0.908 NULL 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 RAB28 HGNC ENSG00000157869 87 0 0 57 23 28.75 INPP4B 0 genome.wustl.edu 37 4 143003205 143003205 + Missense_Mutation SNP C C A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 4 143003205 143003205 C A SNP INPP4B ENST00000509777 human ensembl 74_37 -1 known missense c.2621 p.R874L 1.000 NULL superfamily_C2_dom - no_errors INPP4B HGNC ENSG00000109452 65 0 0 33 20 37.7358 LRBA 0 genome.wustl.edu 37 4 151773180 151773180 + Missense_Mutation SNP A A G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 4 151773180 151773180 A G SNP LRBA ENST00000357115 human ensembl 74_37 -1 known missense c.3682 p.C1228R 0.000 NULL pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom - no_errors LRBA HGNC ENSG00000198589 86 0 0 54 35 39.3258 KIAA0922 0 genome.wustl.edu 37 4 154519772 154519772 + Silent SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 4 154519772 154519772 C T SNP KIAA0922 ENST00000409959 human ensembl 74_37 +1 known silent c.2154 p.G718 0.000 NULL pfam_DUF3651_TMEM131 - no_errors KIAA0922 HGNC ENSG00000121210 73 0 0 47 28 37.3333 GUCY1A3 0 genome.wustl.edu 37 4 156631766 156631766 + Missense_Mutation SNP A A G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 4 156631766 156631766 A G SNP GUCY1A3 ENST00000296518 human ensembl 74_37 +1 known missense c.449 p.N150S 1.000 pfam_Heme_NO-bd,superfamily_NO_sig/Golgi_transp_ligand-bd pfam_A/G_cyclase,pfam_Haem_no_assoc-bd,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors GUCY1A3 HGNC ENSG00000164116 71 0 0 48 21 30.4348 CTSO 0 genome.wustl.edu 37 4 156849508 156849508 + Missense_Mutation SNP T T G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 4 156849508 156849508 T G SNP CTSO ENST00000433477 human ensembl 74_37 -1 known missense c.911 p.K304T 1.000 pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C - no_errors CTSO HGNC ENSG00000256043 69 0 0 76 4 5 TMEM129 0 genome.wustl.edu 37 4 1720065 1720065 + Missense_Mutation SNP A A G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 4 1720065 1720065 A G SNP TMEM129 ENST00000382936 human ensembl 74_37 -1 known missense c.494 p.I165T 1.000 pfam_Tmpp129 pfam_Tmpp129 - no_errors TMEM129 HGNC ENSG00000168936 31 0 0 19 9 32.1429 LETM1 0 genome.wustl.edu 37 4 1817414 1817414 + Missense_Mutation SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 4 1817414 1817414 C T SNP LETM1 ENST00000302787 human ensembl 74_37 -1 known missense c.2047 p.V683I 0.998 pfscan_EF_hand_dom pfam_LETM1,pfscan_EF_hand_dom - no_errors LETM1 HGNC ENSG00000168924 52 0 0 37 16 30.1887 ENPP6 0 genome.wustl.edu 37 4 185038092 185038092 + Missense_Mutation SNP A A G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 4 185038092 185038092 A G SNP ENPP6 ENST00000296741 human ensembl 74_37 -1 known missense c.772 p.Y258H 0.858 pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors ENPP6 HGNC ENSG00000164303 48 0 0 37 4 9.7561 TRIML2 0 genome.wustl.edu 37 4 189013038 189013038 + Missense_Mutation SNP A A C TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 4 189013038 189013038 A C SNP TRIML2 ENST00000512729 human ensembl 74_37 -1 known missense c.653 p.L218R 0.995 superfamily_ConA-like_lec_gl_sf,smart_PRY,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin - no_errors TRIML2 HGNC ENSG00000179046 93 0 0 48 23 32.3944 PPARGC1A 0 genome.wustl.edu 37 4 23814436 23814436 + Silent SNP G G C TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 4 23814436 23814436 G C SNP PPARGC1A ENST00000264867 human ensembl 74_37 -1 known silent c.1953 p.R651 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors PPARGC1A HGNC ENSG00000109819 141 0 0 82 52 38.806 FAM193A 0 genome.wustl.edu 37 4 2701621 2701621 + Missense_Mutation SNP T T C TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 4 2701621 2701621 T C SNP FAM193A ENST00000324666 human ensembl 74_37 +1 known missense c.2849 p.M950T 1.000 NULL NULL - no_errors FAM193A HGNC ENSG00000125386 180 0 0 136 10 6.84932 HTT 0 genome.wustl.edu 37 4 3158802 3158802 + Missense_Mutation SNP C C A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 4 3158802 3158802 C A SNP HTT ENST00000355072 human ensembl 74_37 +1 known missense c.3629 p.S1210Y 1.000 NULL pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin - no_errors HTT HGNC ENSG00000197386 78 0 0 43 20 31.746 ARAP2 0 genome.wustl.edu 37 4 36115863 36115863 + Missense_Mutation SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 4 36115863 36115863 G A SNP ARAP2 ENST00000303965 human ensembl 74_37 -1 known missense c.4085 p.A1362V 1.000 pfam_Ras-assoc,pfscan_Ras-assoc 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 84 0 0 61 28 31.4607 ABCA11P 0 genome.wustl.edu 37 4 419744 419744 + RNA SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 4 419744 419744 G A SNP ABCA11P ENST00000451020 human ensembl 74_37 -1 known rna NULL NULL 0.202 - - - no_errors ABCA11P HGNC ENSG00000251595 47 0 0 36 24 40 CORIN 0 genome.wustl.edu 37 4 47746539 47746539 + Missense_Mutation SNP G G T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 4 47746539 47746539 G T SNP CORIN ENST00000273857 human ensembl 74_37 -1 known missense c.679 p.L227M 1.000 pirsf_Peptidase_S1A_corin,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom pirsf_Peptidase_S1A_corin,pfam_Peptidase_S1,pfam_LDrepeatLR_classA_rpt,pfam_Frizzled_dom,superfamily_Trypsin-like_Pept_dom,superfamily_Frizzled_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_Frizzled_dom,smart_LDrepeatLR_classA_rpt,smart_Srcr_rcpt-rel,smart_Peptidase_S1,prints_LDrepeatLR_classA_rpt,prints_Peptidase_S1A,pfscan_Frizzled_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1 - no_errors CORIN HGNC ENSG00000145244 221 0 0 134 94 41.2281 KIAA1211 0 genome.wustl.edu 37 4 57181919 57181919 + Silent SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 4 57181919 57181919 C T SNP KIAA1211 ENST00000504228 human ensembl 74_37 +1 known silent c.2251 p.L751 0.000 NULL NULL - no_errors KIAA1211 HGNC ENSG00000109265 52 0 0 41 29 41.4286 TMPRSS11F 0 genome.wustl.edu 37 4 68925166 68925166 + Missense_Mutation SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 4 68925166 68925166 G A SNP TMPRSS11F ENST00000356291 human ensembl 74_37 -1 known missense c.1036 p.R346W 1.000 pirsf_Pept_S1A_HAT/DESC1,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pirsf_Pept_S1A_HAT/DESC1,pfam_Peptidase_S1,pfam_SEA_dom,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_SEA_dom,pfscan_Peptidase_S1 - no_errors TMPRSS11F HGNC ENSG00000198092 45 0 0 25 21 45.6522 TADA2B 0 genome.wustl.edu 37 4 7056720 7056720 + Missense_Mutation SNP T T C TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 4 7056720 7056720 T C SNP TADA2B ENST00000310074 human ensembl 74_37 +1 known missense c.1202 p.L401P 0.996 superfamily_Homeodomain-like,pirsf_Transcriptional_adaptor_2 pfam_SANT/Myb,pfam_Znf_ZZ,superfamily_Homeodomain-like,smart_Znf_ZZ,smart_SANT/Myb,pirsf_Transcriptional_adaptor_2,pfscan_Znf_ZZ,pfscan_Myb-like_dom - no_errors TADA2B HGNC ENSG00000173011 64 0 0 36 22 37.931 GC 0 genome.wustl.edu 37 4 72649747 72649747 + Missense_Mutation SNP A A C TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 4 72649747 72649747 A C SNP GC ENST00000504199 human ensembl 74_37 -1 putative missense c.46 p.S16A 0.000 NULL 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 49 0 0 33 20 37.7358 AFM 0 genome.wustl.edu 37 4 74364932 74364932 + Missense_Mutation SNP T T C TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 4 74364932 74364932 T C SNP AFM ENST00000226355 human ensembl 74_37 +1 known missense c.1391 p.L464P 0.006 pirsf_Serum_albumin/AFP,pfam_Serum_albumin_N,superfamily_Serum_albumin-like,smart_Serum_albumin_N pirsf_Serum_albumin/AFP,pfam_Serum_albumin_N,superfamily_Serum_albumin-like,smart_Serum_albumin_N,prints_ALB/AFP/VDB,prints_Alpha-fetoprotein - no_errors AFM HGNC ENSG00000079557 63 0 0 36 14 28 EREG 0 genome.wustl.edu 37 4 75246852 75246852 + Silent SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 4 75246852 75246852 C T SNP EREG ENST00000244869 human ensembl 74_37 +1 known silent c.276 p.C92 1.000 pfscan_EG-like_dom pfscan_EG-like_dom - no_errors EREG HGNC ENSG00000124882 84 0 0 56 35 38.4615 HELQ 0 genome.wustl.edu 37 4 84374977 84374977 + Missense_Mutation SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 4 84374977 84374977 G A SNP HELQ ENST00000295488 human ensembl 74_37 -1 known missense c.419 p.A140V 0.000 NULL 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 229 0 0 123 69 35.9375 CTNND2 0 genome.wustl.edu 37 5 11346569 11346569 + Missense_Mutation SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 5 11346569 11346569 G A SNP CTNND2 ENST00000304623 human ensembl 74_37 -1 known missense c.1543 p.P515S 1.000 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors CTNND2 HGNC ENSG00000169862 65 0 0 46 21 31.3433 GDF9 0 genome.wustl.edu 37 5 132197386 132197386 + Silent SNP T T C TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 5 132197386 132197386 T C SNP GDF9 ENST00000296875 human ensembl 74_37 -1 known silent c.1260 p.V420 0.005 pfam_TGF-b_C,smart_TGF-b_C pfam_TGF-b_C,smart_TGF-b_C - no_errors GDF9 HGNC ENSG00000164404 93 0 0 53 32 37.6471 KIF20A 0 genome.wustl.edu 37 5 137518981 137518981 + Missense_Mutation SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 5 137518981 137518981 C T SNP KIF20A ENST00000394894 human ensembl 74_37 +1 known missense c.956 p.P319L 0.363 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 KIF20A HGNC ENSG00000112984 55 0 0 45 18 28.5714 DNAH5 0 genome.wustl.edu 37 5 13766090 13766090 + Missense_Mutation SNP A A C TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 5 13766090 13766090 A C SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known missense c.10096 p.L3366V 0.110 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 124 0 0 121 8 6.20155 PCDHA3 0 genome.wustl.edu 37 5 140181171 140181171 + Missense_Mutation SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 5 140181171 140181171 C T SNP PCDHA3 ENST00000522353 human ensembl 74_37 +1 known missense c.389 p.A130V 0.045 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 137 0 0 82 38 31.6667 PCDHB8 0 genome.wustl.edu 37 5 140559946 140559946 + Silent SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 5 140559946 140559946 C T SNP PCDHB8 ENST00000239444 human ensembl 74_37 +1 known silent c.2331 p.G777 0.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB8 HGNC ENSG00000120322 73 0 0 48 19 28.3582 PCDHB11 0 genome.wustl.edu 37 5 140581381 140581381 + Silent SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 5 140581381 140581381 G A SNP PCDHB11 ENST00000354757 human ensembl 74_37 +1 known silent c.2034 p.P678 0.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHB11 HGNC ENSG00000197479 83 0 0 50 29 36.7089 PCDHGA2 0 genome.wustl.edu 37 5 140719048 140719048 + Silent SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 5 140719048 140719048 C T SNP PCDHGA2 ENST00000394576 human ensembl 74_37 +1 known silent c.510 p.Y170 0.002 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 PCDHGA2 HGNC ENSG00000081853 117 0 0 73 49 40.1639 TCOF1 0 genome.wustl.edu 37 5 149769545 149769545 + Missense_Mutation SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 5 149769545 149769545 C T SNP TCOF1 ENST00000451292 human ensembl 74_37 +1 known missense c.3253 p.R1085W 0.001 NULL pfam_TCS_treacle,smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_Treacle-like_TCS - no_errors TCOF1 HGNC ENSG00000070814 23 0 0 17 7 29.1667 DCTN4 0 genome.wustl.edu 37 5 150095168 150095168 + Silent SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 5 150095168 150095168 G A SNP DCTN4 ENST00000446090 human ensembl 74_37 -1 known silent c.1149 p.Y383 0.861 pfam_Dynactin_p62 pfam_Dynactin_p62 - no_errors DCTN4 HGNC ENSG00000132912 46 0 0 33 16 32.6531 GALNT10 0 genome.wustl.edu 37 5 153760082 153760082 + Missense_Mutation SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 5 153760082 153760082 G A SNP GALNT10 ENST00000297107 human ensembl 74_37 +1 known missense c.829 p.E277K 0.999 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 GALNT10 HGNC ENSG00000164574 141 1 0.704225 88 50 36.2319 SPDL1 0 genome.wustl.edu 37 5 169031164 169031164 + Missense_Mutation SNP T T C TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 5 169031164 169031164 T C SNP SPDL1 ENST00000265295 human ensembl 74_37 +1 known missense c.1771 p.Y591H 0.520 NULL NULL - no_errors SPDL1 HGNC ENSG00000040275 98 0 0 60 47 43.9252 CDHR2 0 genome.wustl.edu 37 5 176017621 176017621 + Nonsense_Mutation SNP G G T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 5 176017621 176017621 G T SNP CDHR2 ENST00000261944 human ensembl 74_37 +1 known nonsense c.3472 p.G1158* 0.293 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDHR2 HGNC ENSG00000074276 91 0 0 71 4 5.33333 PROP1 0 genome.wustl.edu 37 5 177419842 177419842 + Silent SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 5 177419842 177419842 G A SNP PROP1 ENST00000308304 human ensembl 74_37 -1 known silent c.549 p.G183 0.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif - no_errors PROP1 HGNC ENSG00000175325 17 0 0 8 10 55.5556 SQSTM1 0 genome.wustl.edu 37 5 179250912 179250912 + Missense_Mutation SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 5 179250912 179250912 G A SNP SQSTM1 ENST00000389805 human ensembl 74_37 +1 known missense c.356 p.R119H 0.000 NULL pfam_Znf_ZZ,pfam_OPR_PB1,superfamily_UBA-like,smart_OPR_PB1,smart_Znf_ZZ,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_ZZ - no_errors SQSTM1 HGNC ENSG00000161011 32 0 0 31 15 32.6087 FLT4 0 genome.wustl.edu 37 5 180046728 180046728 + Missense_Mutation SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 5 180046728 180046728 C T SNP FLT4 ENST00000261937 human ensembl 74_37 -1 known missense c.2584 p.A862T 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_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 56 0 0 42 32 43.2432 CDH12 0 genome.wustl.edu 37 5 21802491 21802491 + Missense_Mutation SNP T T G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 5 21802491 21802491 T G SNP CDH12 ENST00000382254 human ensembl 74_37 -1 known missense c.1041 p.K347N 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH12 HGNC ENSG00000154162 81 0 0 71 7 8.97436 CDH10 0 genome.wustl.edu 37 5 24509890 24509890 + Silent SNP T T C TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 5 24509890 24509890 T C SNP CDH10 ENST00000264463 human ensembl 74_37 -1 known silent c.1041 p.K347 0.994 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors CDH10 HGNC ENSG00000040731 64 0 0 43 16 27.1186 PDZD2 0 genome.wustl.edu 37 5 32074648 32074648 + Missense_Mutation SNP A A G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 5 32074648 32074648 A G SNP PDZD2 ENST00000282493 human ensembl 74_37 +1 known missense c.3436 p.T1146A 0.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD2 HGNC ENSG00000133401 33 0 0 26 10 27.7778 PDZD2 0 genome.wustl.edu 37 5 32098700 32098700 + Silent SNP T T C TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 5 32098700 32098700 T C SNP PDZD2 ENST00000282493 human ensembl 74_37 +1 known silent c.8178 p.G2726 0.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD2 HGNC ENSG00000133401 32 0 0 26 17 39.5349 SPEF2 0 genome.wustl.edu 37 5 35641550 35641550 + Missense_Mutation SNP T T G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 5 35641550 35641550 T G SNP SPEF2 ENST00000356031 human ensembl 74_37 +1 known missense c.179 p.L60R 1.000 pfam_DUF1042,superfamily_CH-domain,pfscan_CH-domain pfam_DUF1042,pfam_Adenylate_kin,pfam_HATC_dom_C,superfamily_P-loop_NTPase,superfamily_CH-domain,pfscan_CH-domain - no_errors SPEF2 HGNC ENSG00000152582 77 0 0 85 16 15.8416 SPEF2 0 genome.wustl.edu 37 5 35793420 35793420 + Missense_Mutation SNP A A G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 5 35793420 35793420 A G SNP SPEF2 ENST00000356031 human ensembl 74_37 +1 known missense c.4714 p.I1572V 0.536 NULL pfam_DUF1042,pfam_Adenylate_kin,pfam_HATC_dom_C,superfamily_P-loop_NTPase,superfamily_CH-domain,pfscan_CH-domain - no_errors SPEF2 HGNC ENSG00000152582 64 0 0 56 6 9.67742 NUP155 0 genome.wustl.edu 37 5 37299658 37299658 + Missense_Mutation SNP A A T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 5 37299658 37299658 A T SNP NUP155 ENST00000231498 human ensembl 74_37 -1 known missense c.3574 p.F1192I 1.000 pfam_Nucleoporin_Nup133/Nup155_C pfam_Nucleoporin_Nup133/Nup155_C,pfam_Nucleoporin_Nup133/Nup155_N,superfamily_WD40_repeat_dom - no_errors NUP155 HGNC ENSG00000113569 89 0 0 47 35 42.6829 HCN1 0 genome.wustl.edu 37 5 45396642 45396642 + Silent SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 5 45396642 45396642 G A SNP HCN1 ENST00000303230 human ensembl 74_37 -1 known silent c.1182 p.T394 0.000 prints_K_chnl_volt-dep_EAG/ELK/ERG 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 40 0 0 19 13 40.625 ADAMTS16 0 genome.wustl.edu 37 5 5303392 5303392 + Missense_Mutation SNP G G T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 5 5303392 5303392 G T SNP ADAMTS16 ENST00000274181 human ensembl 74_37 +1 known missense c.2801 p.G934V 0.999 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS16 HGNC ENSG00000145536 11 0 0 7 5 41.6667 SKIV2L2 0 genome.wustl.edu 37 5 54674186 54674186 + Missense_Mutation SNP A A G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 5 54674186 54674186 A G SNP SKIV2L2 ENST00000230640 human ensembl 74_37 +1 known missense c.1855 p.N619D 1.000 pirsf_RNA_helicase_ATP-dep_SK12/DOB1 pfam_DSH_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pirsf_RNA_helicase_ATP-dep_SK12/DOB1,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SKIV2L2 HGNC ENSG00000039123 47 0 0 42 25 37.3134 MAP3K1 0 genome.wustl.edu 37 5 56181765 56181765 + Missense_Mutation SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 5 56181765 56181765 C T SNP MAP3K1 ENST00000399503 human ensembl 74_37 +1 novel missense c.3989 p.S1330L 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,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_dom - no_errors MAP3K1 HGNC ENSG00000095015 50 0 0 36 13 26.5306 RGS7BP 0 genome.wustl.edu 37 5 63871704 63871704 + Silent SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 5 63871704 63871704 C T SNP RGS7BP ENST00000334025 human ensembl 74_37 +1 known silent c.436 p.L146 1.000 NULL NULL - no_errors RGS7BP HGNC ENSG00000186479 94 0 0 58 19 24.6753 NLN 0 genome.wustl.edu 37 5 65105422 65105422 + Silent SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 5 65105422 65105422 G A SNP NLN ENST00000380985 human ensembl 74_37 +1 known silent c.1608 p.V536 0.998 pfam_Pept_M3A_M3B pfam_Pept_M3A_M3B - no_errors NLN HGNC ENSG00000123213 104 0 0 69 49 41.5254 NLN 0 genome.wustl.edu 37 5 65105492 65105492 + Missense_Mutation SNP C C A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 5 65105492 65105492 C A SNP NLN ENST00000380985 human ensembl 74_37 +1 known missense c.1678 p.L560I 1.000 pfam_Pept_M3A_M3B pfam_Pept_M3A_M3B - no_errors NLN HGNC ENSG00000123213 68 0 0 47 28 37.3333 VCAN 0 genome.wustl.edu 37 5 82816658 82816658 + Missense_Mutation SNP A A G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 5 82816658 82816658 A G SNP VCAN ENST00000265077 human ensembl 74_37 +1 known missense c.2533 p.S845G 0.244 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 139 0 0 123 7 5.38462 SEC63 0 genome.wustl.edu 37 6 108214708 108214708 + Missense_Mutation SNP T T A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 6 108214708 108214708 T A SNP SEC63 ENST00000369002 human ensembl 74_37 -1 known missense c.1652 p.Q551L 1.000 superfamily_ARM-type_fold,smart_Sec63-dom pfam_Sec63-dom,pfam_DnaJ_domain,superfamily_DnaJ_domain,superfamily_ARM-type_fold,smart_DnaJ_domain,smart_Sec63-dom,prints_DnaJ_domain,pfscan_DnaJ_domain - no_errors SEC63 HGNC ENSG00000025796 108 0 0 123 7 5.38462 MAN1A1 0 genome.wustl.edu 37 6 119670101 119670101 + Silent SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 6 119670101 119670101 G A SNP MAN1A1 ENST00000368468 human ensembl 74_37 -1 known silent c.130 p.L44 1.000 NULL pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 - no_errors MAN1A1 HGNC ENSG00000111885 19 0 0 4 5 55.5556 PHACTR1 0 genome.wustl.edu 37 6 13283733 13283733 + Missense_Mutation SNP A A G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 6 13283733 13283733 A G SNP PHACTR1 ENST00000379335 human ensembl 74_37 +1 known missense c.281 p.D94G 1.000 NULL pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat - no_errors PHACTR1 HGNC ENSG00000112137 91 0 0 61 25 29.0698 TAAR1 0 genome.wustl.edu 37 6 132966361 132966361 + Missense_Mutation SNP A A G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 6 132966361 132966361 A G SNP TAAR1 ENST00000275216 human ensembl 74_37 -1 known missense c.782 p.L261P 0.998 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn,prints_TAAR1,prints_TAAR_fam,pfscan_GPCR_Rhodpsn_7TM - no_errors TAAR1 HGNC ENSG00000146399 130 1 0.763359 83 42 33.6 TXLNB 0 genome.wustl.edu 37 6 139563701 139563701 + Missense_Mutation SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 6 139563701 139563701 G A SNP TXLNB ENST00000358430 human ensembl 74_37 -1 known missense c.2017 p.R673C 0.016 NULL pfam_Taxilin_fam - no_errors TXLNB HGNC ENSG00000164440 36 0 0 31 22 41.5094 SHPRH 0 genome.wustl.edu 37 6 146240594 146240594 + Missense_Mutation SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 6 146240594 146240594 G A SNP SHPRH ENST00000367503 human ensembl 74_37 -1 known missense c.4054 p.R1352C 1.000 superfamily_P-loop_NTPase pfam_SNF2_N,pfam_Histone_H1/H5_H15,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,superfamily_WW_dom,smart_Helicase_ATP-bd,smart_Histone_H1/H5_H15,smart_Znf_PHD,smart_Znf_RING,smart_Helicase_C,pfscan_Znf_RING,pfscan_Helicase_C - no_errors SHPRH HGNC ENSG00000146414 91 0 0 68 42 38.1818 TAB2 0 genome.wustl.edu 37 6 149700256 149700256 + Missense_Mutation SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 6 149700256 149700256 G A SNP TAB2 ENST00000286332 human ensembl 74_37 +1 known missense c.1205 p.R402Q 1.000 NULL pfam_CUE,pfam_Znf_RanBP2,smart_CUE,smart_Znf_RanBP2,pfscan_CUE,pfscan_Znf_RanBP2 - no_errors TAB2 HGNC ENSG00000055208 63 0 0 29 25 46.2963 LATS1 0 genome.wustl.edu 37 6 149983013 149983013 + Missense_Mutation SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 6 149983013 149983013 C T SNP LATS1 ENST00000253339 human ensembl 74_37 -1 known missense c.3245 p.R1082K 1.000 pfam_Pkinase_C pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_UBA/Ts_N,superfamily_Kinase-like_dom,superfamily_UBA-like,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 LATS1 HGNC ENSG00000131023 101 0 0 59 28 32.1839 CAP2 0 genome.wustl.edu 37 6 17507473 17507473 + Missense_Mutation SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 6 17507473 17507473 G A SNP CAP2 ENST00000229922 human ensembl 74_37 +1 known missense c.374 p.R125Q 1.000 pfam_Adenylate_cyclase-assoc_CAP_N,superfamily_Adenylate_cyclase-assoc_CAP_N pfam_Adenylate_cyclase-assoc_CAP_N,pfam_Adenylate_cyclase-assoc_CAP_C,superfamily_Adenylate_cyclase-assoc_CAP_N,superfamily_Adenylate_cyclase-assoc_CAP_C,smart_CARP_motif - no_errors CAP2 HGNC ENSG00000112186 81 0 0 33 35 51.4706 SLC17A1 0 genome.wustl.edu 37 6 25813374 25813374 + Silent SNP T T C TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 6 25813374 25813374 T C SNP SLC17A1 ENST00000244527 human ensembl 74_37 -1 known silent c.684 p.P228 0.319 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Pi_cotranspt pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Pi_cotranspt - no_errors SLC17A1 HGNC ENSG00000124568 87 0 0 72 9 11.1111 HLA-B 0 genome.wustl.edu 37 6 31324898 31324898 + Missense_Mutation SNP A A G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 6 31324898 31324898 A G SNP HLA-B ENST00000412585 human ensembl 74_37 -1 known missense c.38 p.L13P 0.005 NULL pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a - no_errors HLA-B HGNC ENSG00000234745 16 0 0 6 12 66.6667 VARS 0 genome.wustl.edu 37 6 31760167 31760167 + Splice_Site SNP A A G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 6 31760167 31760167 A G SNP VARS ENST00000375663 human ensembl 74_37 -1 known splice_site c.786+2 e4+2 0.996 - - - no_errors VARS HGNC ENSG00000204394 83 0 0 34 30 46.875 HSPA1L 0 genome.wustl.edu 37 6 31779676 31779676 + Missense_Mutation SNP T T C TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 6 31779676 31779676 T C SNP HSPA1L ENST00000375654 human ensembl 74_37 -1 known missense c.74 p.H25R 1.000 pfam_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA1L HGNC ENSG00000204390 77 0 0 49 28 36.3636 PRRT1 0 genome.wustl.edu 37 6 32117114 32117114 + Missense_Mutation SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 6 32117114 32117114 C T SNP PRRT1 ENST00000211413 human ensembl 74_37 -1 known missense c.806 p.R269Q 1.000 pfam_CD225/Dispanin_fam pfam_CD225/Dispanin_fam - no_errors PRRT1 HGNC ENSG00000204314 20 0 0 12 6 33.3333 USP49 0 genome.wustl.edu 37 6 41767603 41767603 + Silent SNP T T C TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 6 41767603 41767603 T C SNP USP49 ENST00000373009 human ensembl 74_37 -1 known silent c.1635 p.L545 1.000 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 121 0 0 77 40 34.188 TTBK1 0 genome.wustl.edu 37 6 43252030 43252030 + Silent SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 6 43252030 43252030 G A SNP TTBK1 ENST00000259750 human ensembl 74_37 +1 known silent c.3552 p.L1184 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 - no_errors TTBK1 HGNC ENSG00000146216 14 0 0 11 6 35.2941 ICK 0 genome.wustl.edu 37 6 52869977 52869977 + Silent SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 6 52869977 52869977 G A SNP ICK ENST00000350082 human ensembl 74_37 -1 known silent c.1869 p.D623 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 ICK HGNC ENSG00000112144 96 0 0 59 50 45.8716 F13A1 0 genome.wustl.edu 37 6 6196106 6196106 + Missense_Mutation SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 6 6196106 6196106 C T SNP F13A1 ENST00000264870 human ensembl 74_37 -1 known missense c.1229 p.C410Y 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 24 0 0 16 8 33.3333 BAI3 0 genome.wustl.edu 37 6 70070837 70070837 + Silent SNP T T C TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 6 70070837 70070837 T C SNP BAI3 ENST00000370598 human ensembl 74_37 +1 known silent c.3672 p.D1224 0.624 NULL pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like - no_errors BAI3 HGNC ENSG00000135298 72 0 0 40 23 36.5079 CD109 0 genome.wustl.edu 37 6 74472143 74472143 + Silent SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 6 74472143 74472143 G A SNP CD109 ENST00000287097 human ensembl 74_37 +1 known silent c.795 p.T265 0.352 NULL 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 - no_errors CD109 HGNC ENSG00000156535 43 0 0 27 26 49.0566 COL12A1 0 genome.wustl.edu 37 6 75855832 75855832 + Missense_Mutation SNP T T C TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 6 75855832 75855832 T C SNP COL12A1 ENST00000322507 human ensembl 74_37 -1 known missense c.4546 p.T1516A 0.004 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 53 0 0 63 6 8.69565 IBTK 0 genome.wustl.edu 37 6 82950021 82950021 + Silent SNP G G T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 6 82950021 82950021 G T SNP IBTK ENST00000306270 human ensembl 74_37 -1 known silent c.183 p.S61 0.730 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Reg_chr_condens,pfam_BTB_POZ,pfam_Ankyrin_rpt,superfamily_RCC1/BLIP-II,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like,pfscan_Reg_chr_condens - no_errors IBTK HGNC ENSG00000005700 91 0 0 46 35 43.2099 SNAP91 0 genome.wustl.edu 37 6 84302947 84302947 + Silent SNP T T G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 6 84302947 84302947 T G SNP SNAP91 ENST00000369694 human ensembl 74_37 -1 known silent c.1728 p.A576 0.989 NULL pfam_ANTH_dom,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N - no_errors SNAP91 HGNC ENSG00000065609 14 0 0 12 6 33.3333 CASP8AP2 0 genome.wustl.edu 37 6 90577062 90577062 + RNA SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 6 90577062 90577062 C T SNP CASP8AP2 ENST00000237177 human ensembl 74_37 +1 known rna NULL NULL 0.995 - - - no_errors CASP8AP2 HGNC ENSG00000118412 51 0 0 37 25 40.3226 PNISR 0 genome.wustl.edu 37 6 99857075 99857075 + Missense_Mutation SNP G G T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 6 99857075 99857075 G T SNP PNISR ENST00000369239 human ensembl 74_37 -1 known missense c.647 p.P216H 1.000 NULL NULL - no_errors PNISR HGNC ENSG00000132424 31 0 0 28 7 20 PCOLCE-AS1 0 genome.wustl.edu 37 7 100200207 100200207 + RNA SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 7 100200207 100200207 G A SNP PCOLCE-AS1 ENST00000442166 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors PCOLCE-AS1 HGNC ENSG00000224729 41 0 0 22 14 38.8889 LRRN3 0 genome.wustl.edu 37 7 110762919 110762919 + Silent SNP C C A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 7 110762919 110762919 C A SNP LRRN3 ENST00000308478 human ensembl 74_37 +1 known silent c.91 p.R31 0.879 pfam_LRR-contain_N,smart_LRR-contain_N 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 138 0 0 68 5 6.84932 FOXP2 0 genome.wustl.edu 37 7 114269985 114269985 + Silent SNP A A G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 7 114269985 114269985 A G SNP FOXP2 ENST00000408937 human ensembl 74_37 +1 known silent c.597 p.Q199 0.894 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXP2 HGNC ENSG00000128573 43 0 0 33 11 25 SPAM1 0 genome.wustl.edu 37 7 123594028 123594028 + Missense_Mutation SNP T T C TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 7 123594028 123594028 T C SNP SPAM1 ENST00000340011 human ensembl 74_37 +1 known missense c.404 p.M135T 0.595 pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase,prints_Hyaluronidase - no_errors SPAM1 HGNC ENSG00000106304 134 0 0 81 51 38.6364 OPN1SW 0 genome.wustl.edu 37 7 128415565 128415565 + Missense_Mutation SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 7 128415565 128415565 C T SNP OPN1SW ENST00000249389 human ensembl 74_37 -1 known missense c.280 p.A94T 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Opsin_blue,prints_GPCR_Rhodpsn,prints_Opsin - no_errors OPN1SW HGNC ENSG00000128617 217 0 0 99 70 41.4201 FLNC 0 genome.wustl.edu 37 7 128489424 128489424 + Missense_Mutation SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 7 128489424 128489424 C T SNP FLNC ENST00000325888 human ensembl 74_37 +1 known missense c.4991 p.T1664M 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 FLNC HGNC ENSG00000128591 31 0 0 17 12 41.3793 MEST 0 genome.wustl.edu 37 7 130144785 130144785 + Missense_Mutation SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 7 130144785 130144785 C T SNP MEST ENST00000223215 human ensembl 74_37 +1 known missense c.896 p.T299M 1.000 pfam_AB_hydrolase_1 pfam_AB_hydrolase_1,pfam_DUF1057,prints_Epox_hydrolase-like - no_errors MEST HGNC ENSG00000106484 73 0 0 47 25 34.7222 TAS2R60 0 genome.wustl.edu 37 7 143141266 143141266 + Missense_Mutation SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 7 143141266 143141266 G A SNP TAS2R60 ENST00000332690 human ensembl 74_37 +1 known missense c.721 p.A241T 0.265 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R60 HGNC ENSG00000185899 106 0 0 84 23 21.4953 CNTNAP2 0 genome.wustl.edu 37 7 146536934 146536934 + Silent SNP C C A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 7 146536934 146536934 C A SNP CNTNAP2 ENST00000361727 human ensembl 74_37 +1 known silent c.340 p.R114 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_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 62 0 0 30 20 40 HTR5A 0 genome.wustl.edu 37 7 154875885 154875885 + Missense_Mutation SNP G G T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 7 154875885 154875885 G T SNP HTR5A ENST00000287907 human ensembl 74_37 +1 known missense c.762 p.Q254H 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_5HT5A_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT5A_rcpt,prints_5HT_rcpt - no_errors HTR5A HGNC ENSG00000157219 25 0 0 26 7 21.2121 SNX13 0 genome.wustl.edu 37 7 17873707 17873707 + Missense_Mutation SNP G G T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 7 17873707 17873707 G T SNP SNX13 ENST00000428135 human ensembl 74_37 -1 known missense c.1565 p.P522H 1.000 NULL pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_Phox,pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_Phox,superfamily_Cyt_c_oxidase_su5A/6,smart_PX_assoc_Snx13,smart_Regulat_G_prot_signal_superfam,smart_Phox,pfscan_Phox,pfscan_Phox_assoc,pfscan_Regulat_G_prot_signal_superfam - no_errors SNX13 HGNC ENSG00000071189 19 0 0 13 8 38.0952 RAPGEF5 0 genome.wustl.edu 37 7 22184666 22184666 + Missense_Mutation SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 7 22184666 22184666 C T SNP RAPGEF5 ENST00000344041 human ensembl 74_37 -1 known missense c.1723 p.A575T 0.999 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 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 RAPGEF5 HGNC ENSG00000136237 41 0 0 24 13 35.1351 EVX1 0 genome.wustl.edu 37 7 27282961 27282961 + Silent SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 7 27282961 27282961 C T SNP EVX1 ENST00000496902 human ensembl 74_37 +1 known silent c.312 p.L104 0.067 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors EVX1 HGNC ENSG00000106038 8 0 0 3 4 57.1429 ZNRF2 0 genome.wustl.edu 37 7 30395357 30395357 + Silent SNP T T C TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 7 30395357 30395357 T C SNP ZNRF2 ENST00000323037 human ensembl 74_37 +1 known silent c.579 p.S193 0.997 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors ZNRF2 HGNC ENSG00000180233 60 0 0 53 9 14.5161 NPC1L1 0 genome.wustl.edu 37 7 44555476 44555476 + Missense_Mutation SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 7 44555476 44555476 C T SNP NPC1L1 ENST00000289547 human ensembl 74_37 -1 known missense c.3803 p.R1268H 1.000 pfam_Patched pfam_Patched,pfscan_SSD - no_errors NPC1L1 HGNC ENSG00000015520 49 0 0 30 14 31.8182 TNS3 0 genome.wustl.edu 37 7 47467961 47467961 + Missense_Mutation SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 7 47467961 47467961 C T SNP TNS3 ENST00000311160 human ensembl 74_37 -1 known missense c.338 p.R113H 1.000 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 80 0 0 53 30 36.1446 FGL2 0 genome.wustl.edu 37 7 76828797 76828797 + Missense_Mutation SNP T T C TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 7 76828797 76828797 T C SNP FGL2 ENST00000248598 human ensembl 74_37 -1 known missense c.314 p.D105G 0.949 NULL pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors FGL2 HGNC ENSG00000127951 88 0 0 54 45 45.4545 PCLO 0 genome.wustl.edu 37 7 82544043 82544043 + Missense_Mutation SNP A A C TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 7 82544043 82544043 A C SNP PCLO ENST00000333891 human ensembl 74_37 -1 known missense c.13259 p.F4420C 1.000 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 36 0 0 24 12 33.3333 PCLO 0 genome.wustl.edu 37 7 82580251 82580251 + Missense_Mutation SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 7 82580251 82580251 C T SNP PCLO ENST00000333891 human ensembl 74_37 -1 known missense c.9653 p.R3218H 0.998 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 79 0 0 43 28 39.4366 STEAP2 0 genome.wustl.edu 37 7 89856641 89856641 + Silent SNP T T C TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 7 89856641 89856641 T C SNP STEAP2 ENST00000287908 human ensembl 74_37 +1 known silent c.849 p.Y283 0.914 pfam_Fe3_Rdtase_TM_dom pfam_Fe3_Rdtase_TM_dom - no_errors STEAP2 HGNC ENSG00000157214 98 0 0 55 36 39.5604 AKAP9 0 genome.wustl.edu 37 7 91712572 91712572 + Missense_Mutation SNP T T C TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 7 91712572 91712572 T C SNP AKAP9 ENST00000359028 human ensembl 74_37 +1 known missense c.8285 p.L2762S 0.001 NULL pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB - no_errors AKAP9 HGNC ENSG00000127914 86 0 0 52 49 48.5149 COL1A2 0 genome.wustl.edu 37 7 94056940 94056940 + Missense_Mutation SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 7 94056940 94056940 G A SNP COL1A2 ENST00000297268 human ensembl 74_37 +1 known missense c.3269 p.G1090D 1.000 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fib_collagen_C - no_errors COL1A2 HGNC ENSG00000164692 91 0 0 45 32 41.5584 SHFM1 0 genome.wustl.edu 37 7 96339088 96339088 + RNA SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 7 96339088 96339088 C T SNP SHFM1 ENST00000466986 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors SHFM1 HGNC ENSG00000127922 101 0 0 58 40 40.8163 DLX6 0 genome.wustl.edu 37 7 96639211 96639211 + Missense_Mutation SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 7 96639211 96639211 C T SNP DLX6 ENST00000518156 human ensembl 74_37 +1 known missense c.734 p.S245L 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa - no_errors DLX6 HGNC ENSG00000006377 27 0 0 16 12 42.8571 TRRAP 0 genome.wustl.edu 37 7 98567799 98567799 + Missense_Mutation SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 7 98567799 98567799 C T SNP TRRAP ENST00000359863 human ensembl 74_37 +1 known missense c.7556 p.P2519L 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 68 0 0 30 20 40 RP1L1 0 genome.wustl.edu 37 8 10480562 10480562 + Silent SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 8 10480562 10480562 G A SNP RP1L1 ENST00000382483 human ensembl 74_37 -1 known silent c.150 p.R50 1.000 smart_Doublecortin_dom,pfscan_Doublecortin_dom pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1L1 HGNC ENSG00000183638 34 0 0 20 10 33.3333 CSMD3 0 genome.wustl.edu 37 8 113318350 113318350 + Nonsense_Mutation SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 8 113318350 113318350 G A SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known nonsense c.7957 p.R2653* 0.914 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 97 0 0 63 37 37 EXT1 0 genome.wustl.edu 37 8 118831966 118831966 + Missense_Mutation SNP C C A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 8 118831966 118831966 C A SNP EXT1 ENST00000378204 human ensembl 74_37 -1 known missense c.1485 p.Q495H 1.000 pfam_HexNAc_Trfase_a pfam_HexNAc_Trfase_a,pfam_Exostosin - no_errors EXT1 HGNC ENSG00000182197 86 0 0 77 8 9.41176 NOV 0 genome.wustl.edu 37 8 120430440 120430440 + Silent SNP T T C TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 8 120430440 120430440 T C SNP NOV ENST00000259526 human ensembl 74_37 +1 known silent c.453 p.P151 0.000 pfam_VWF_C,smart_VWF_C,pirsf_IGFBP_CNN,pfscan_VWF_C pfam_IGFBP-like,pfam_Cys_knot,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 NOV HGNC ENSG00000136999 87 0 0 94 16 14.5455 TRAPPC9 0 genome.wustl.edu 37 8 141321405 141321405 + Missense_Mutation SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 8 141321405 141321405 C T SNP TRAPPC9 ENST00000389328 human ensembl 74_37 -1 known missense c.1858 p.A620T 0.997 NULL pfam_TRAPP_II_complex_Trs120 - no_errors TRAPPC9 HGNC ENSG00000167632 48 0 0 26 15 36.5854 TSNARE1 0 genome.wustl.edu 37 8 143427155 143427155 + Missense_Mutation SNP C C A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 8 143427155 143427155 C A SNP TSNARE1 ENST00000307180 human ensembl 74_37 -1 known missense c.187 p.G63C 0.858 NULL pfam_T_SNARE_dom,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors TSNARE1 HGNC ENSG00000171045 37 0 0 26 7 21.2121 BAI1 0 genome.wustl.edu 37 8 143558823 143558823 + Missense_Mutation SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 8 143558823 143558823 C T SNP BAI1 ENST00000323289 human ensembl 74_37 +1 known missense c.1300 p.R434C 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_GPCR_2_secretin-like,pfam_Thrombospondin_1_rpt,pfam_DUF3497,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like - no_errors BAI1 HGNC ENSG00000181790 30 0 0 22 7 24.1379 MROH6 0 genome.wustl.edu 37 8 144652165 144652165 + Missense_Mutation SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 8 144652165 144652165 C T SNP MROH6 ENST00000398882 human ensembl 74_37 -1 known missense c.1114 p.A372T 0.048 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MROH6 HGNC ENSG00000204839 20 0 0 20 13 39.3939 NRBP2 0 genome.wustl.edu 37 8 144919329 144919329 + Missense_Mutation SNP A A G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 8 144919329 144919329 A G SNP NRBP2 ENST00000327830 human ensembl 74_37 -1 known missense c.416 p.L139P 1.000 NULL superfamily_Kinase-like_dom - no_errors NRBP2 HGNC ENSG00000185189 30 0 0 13 16 55.1724 PRKDC 0 genome.wustl.edu 37 8 48848299 48848299 + Silent SNP A A G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 8 48848299 48848299 A G SNP PRKDC ENST00000314191 human ensembl 74_37 -1 known silent c.1440 p.S480 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 101 0 0 90 5 5.26316 XKR4 0 genome.wustl.edu 37 8 56015465 56015465 + Silent SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 8 56015465 56015465 C T SNP XKR4 ENST00000327381 human ensembl 74_37 +1 known silent c.417 p.R139 1.000 pfam_Transport_prot_XK pfam_Transport_prot_XK - no_errors XKR4 HGNC ENSG00000206579 22 0 0 29 15 34.0909 VCPIP1 0 genome.wustl.edu 37 8 67577294 67577294 + Missense_Mutation SNP A A C TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 8 67577294 67577294 A C SNP VCPIP1 ENST00000310421 human ensembl 74_37 -1 known missense c.1900 p.F634V 1.000 NULL pfam_OTU,pfscan_OTU - no_errors VCPIP1 HGNC ENSG00000175073 168 0 0 123 74 37.5635 ARFGEF1 0 genome.wustl.edu 37 8 68111330 68111330 + Missense_Mutation SNP T T C TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 8 68111330 68111330 T C SNP ARFGEF1 ENST00000262215 human ensembl 74_37 -1 known missense c.5389 p.K1797E 1.000 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 103 0 0 68 45 39.823 C8orf34 0 genome.wustl.edu 37 8 69434189 69434189 + Silent SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 8 69434189 69434189 C T SNP C8orf34 ENST00000518698 human ensembl 74_37 +1 known silent c.921 p.G307 0.999 NULL superfamily_cAMP_dep_PK_reg_su_I/II_a/b - no_errors C8orf34 HGNC ENSG00000165084 73 0 0 48 36 42.8571 EYA1 0 genome.wustl.edu 37 8 72123448 72123448 + Silent SNP T T C TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 8 72123448 72123448 T C SNP EYA1 ENST00000340726 human ensembl 74_37 -1 known silent c.1641 p.R547 0.998 pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA - no_errors EYA1 HGNC ENSG00000104313 109 0 0 85 13 13.2653 ZNF704 0 genome.wustl.edu 37 8 81733851 81733851 + Splice_Site SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 8 81733851 81733851 C T SNP ZNF704 ENST00000327835 human ensembl 74_37 -1 known splice_site c.1-1 e1-1 1.000 - - - no_errors ZNF704 HGNC ENSG00000164684 104 0 0 70 42 37.5 RALYL 0 genome.wustl.edu 37 8 85774590 85774590 + Missense_Mutation SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 8 85774590 85774590 G A SNP RALYL ENST00000521268 human ensembl 74_37 +1 known missense c.473 p.R158H 1.000 pirsf_hnRNP_C_Raly pfam_RRM_dom,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom - no_errors RALYL HGNC ENSG00000184672 35 0 0 13 12 48 TNKS 0 genome.wustl.edu 37 8 9609294 9609294 + Missense_Mutation SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 8 9609294 9609294 C T SNP TNKS ENST00000310430 human ensembl 74_37 +1 known missense c.3008 p.A1003V 1.000 NULL pfam_Ankyrin_rpt,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_SAM_2,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_Poly(ADP-ribose)pol_cat_dom,prints_Ankyrin_rpt - no_errors TNKS HGNC ENSG00000173273 89 0 0 72 36 33.3333 OR13C9 0 genome.wustl.edu 37 9 107379859 107379859 + Missense_Mutation SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 9 107379859 107379859 C T SNP OR13C9 ENST00000259362 human ensembl 74_37 -1 known missense c.627 p.M209I 0.002 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 OR13C9 HGNC ENSG00000136839 92 0 0 68 39 36.4486 MUSK 0 genome.wustl.edu 37 9 113530131 113530131 + Missense_Mutation SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 9 113530131 113530131 G A SNP MUSK ENST00000374448 human ensembl 74_37 +1 known missense c.952 p.A318T 1.000 pfam_Frizzled_dom,superfamily_Frizzled_dom,pfscan_Frizzled_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Frizzled_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Frizzled_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MUSK HGNC ENSG00000030304 142 0 0 97 57 37.013 SUSD1 0 genome.wustl.edu 37 9 114905868 114905868 + Missense_Mutation SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 9 114905868 114905868 G A SNP SUSD1 ENST00000374264 human ensembl 74_37 -1 known missense c.409 p.H137Y 0.938 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP - no_errors SUSD1 HGNC ENSG00000106868 89 0 0 67 40 37.3832 RGS3 0 genome.wustl.edu 37 9 116353631 116353631 + Missense_Mutation SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 9 116353631 116353631 G A SNP RGS3 ENST00000350696 human ensembl 74_37 +1 known missense c.3034 p.V1012I 0.002 NULL pfam_RGS_dom,pfam_C2_dom,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_C2_dom,superfamily_PDZ,smart_C2_dom,smart_PDZ,smart_Regulat_G_prot_signal_superfam,pfscan_C2_dom,pfscan_PDZ,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS3 HGNC ENSG00000138835 61 0 0 58 9 13.4328 AKNA 0 genome.wustl.edu 37 9 117122197 117122197 + Missense_Mutation SNP A A T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 9 117122197 117122197 A T SNP AKNA ENST00000307564 human ensembl 74_37 -1 known missense c.2270 p.V757D 0.469 NULL pfam_TF_AT-hook - no_errors AKNA HGNC ENSG00000106948 64 0 0 34 26 43.3333 C9orf91 0 genome.wustl.edu 37 9 117379548 117379548 + Missense_Mutation SNP C C A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 9 117379548 117379548 C A SNP C9orf91 ENST00000374049 human ensembl 74_37 +1 known missense c.73 p.L25M 0.146 NULL NULL - no_errors C9orf91 HGNC ENSG00000157693 26 0 0 12 9 42.8571 TRIM32 0 genome.wustl.edu 37 9 119461306 119461306 + Missense_Mutation SNP C C A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 9 119461306 119461306 C A SNP TRIM32 ENST00000373983 human ensembl 74_37 +1 known missense c.1285 p.L429I 1.000 pfscan_NHL_repeat_subgr pfam_NHL_repeat,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_NHL_repeat_subgr,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM32 HGNC ENSG00000119401 258 0 0 148 90 37.8151 OR5C1 0 genome.wustl.edu 37 9 125551855 125551855 + Missense_Mutation SNP T T C TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 9 125551855 125551855 T C SNP OR5C1 ENST00000373680 human ensembl 74_37 +1 known missense c.644 p.V215A 0.007 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5C1 HGNC ENSG00000148215 49 0 0 33 13 28.2609 LMX1B 0 genome.wustl.edu 37 9 129455844 129455844 + Silent SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 9 129455844 129455844 C T SNP LMX1B ENST00000355497 human ensembl 74_37 +1 known silent c.783 p.R261 0.319 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom - no_errors LMX1B HGNC ENSG00000136944 29 0 0 23 12 34.2857 DNM1 0 genome.wustl.edu 37 9 130980885 130980885 + Missense_Mutation SNP A A G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 9 130980885 130980885 A G SNP DNM1 ENST00000372923 human ensembl 74_37 +1 known missense c.260 p.K87R 1.000 pfam_Dynamin_GTPase,superfamily_P-loop_NTPase,smart_Dynamin_GTPase pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,pfam_Pleckstrin_homology,superfamily_P-loop_NTPase,smart_Dynamin_GTPase,smart_Pleckstrin_homology,smart_GED,pfscan_Pleckstrin_homology,prints_Dynamin_SF - no_errors DNM1 HGNC ENSG00000106976 55 0 0 28 16 36.3636 TBC1D13 0 genome.wustl.edu 37 9 131570101 131570101 + Silent SNP C C A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 9 131570101 131570101 C A SNP TBC1D13 ENST00000372648 human ensembl 74_37 +1 known silent c.1146 p.P382 1.000 superfamily_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 TBC1D13 HGNC ENSG00000107021 100 0 0 64 38 37.2549 LAMC3 0 genome.wustl.edu 37 9 133901811 133901811 + Silent SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 9 133901811 133901811 C T SNP LAMC3 ENST00000361069 human ensembl 74_37 +1 known silent c.513 p.Y171 1.000 pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_B_type_IV,superfamily_Galactose-bd-like,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 LAMC3 HGNC ENSG00000050555 40 0 0 13 12 48 GTF3C5 0 genome.wustl.edu 37 9 135917576 135917576 + Missense_Mutation SNP C C A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 9 135917576 135917576 C A SNP GTF3C5 ENST00000372108 human ensembl 74_37 +1 known missense c.256 p.L86I 1.000 pfam_TF_IIIC_su-5 pfam_TF_IIIC_su-5 - no_errors GTF3C5 HGNC ENSG00000148308 58 0 0 59 4 6.34921 RXRA 0 genome.wustl.edu 37 9 137328407 137328407 + Missense_Mutation SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 9 137328407 137328407 C T SNP RXRA ENST00000481739 human ensembl 74_37 +1 known missense c.1336 p.P446S 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,prints_COUP_TF 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 102 0 0 62 30 32.6087 CAMSAP1 0 genome.wustl.edu 37 9 138703390 138703390 + Missense_Mutation SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 9 138703390 138703390 G A SNP CAMSAP1 ENST00000409386 human ensembl 74_37 -1 known missense c.4607 p.A1536V 0.999 pfam_CKK_domain,superfamily_PRC_barrel-like pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrel-like,superfamily_CH-domain - no_errors CAMSAP1 HGNC ENSG00000130559 23 0 0 14 5 26.3158 NOTCH1 0 genome.wustl.edu 37 9 139409854 139409854 + Splice_Site SNP T T C TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 9 139409854 139409854 T C SNP NOTCH1 ENST00000277541 human ensembl 74_37 -1 known splice_site c.1904-2 e12-2 1.000 - - - no_errors NOTCH1 HGNC ENSG00000148400 31 0 0 24 9 27.2727 C9orf172 0 genome.wustl.edu 37 9 139739752 139739752 + Missense_Mutation SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 9 139739752 139739752 G A SNP C9orf172 ENST00000436881 human ensembl 74_37 +1 known missense c.886 p.A296T 0.165 NULL NULL - no_errors C9orf172 HGNC ENSG00000232434 19 0 0 13 6 31.5789 CBWD1 0 genome.wustl.edu 37 9 163985 163985 + Silent SNP A A G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 9 163985 163985 A G SNP CBWD1 ENST00000356521 human ensembl 74_37 -1 known silent c.483 p.Y161 0.999 pfam_CobW/HypB/UreG_dom,superfamily_P-loop_NTPase pfam_CobW/HypB/UreG_dom,pfam_Cbl_biosynth_CobW-like_C,superfamily_P-loop_NTPase,superfamily_Cbl_biosynth_CobW-like_C - no_errors CBWD1 HGNC ENSG00000172785 115 0 0 137 16 10.4575 BNC2 0 genome.wustl.edu 37 9 16435990 16435990 + Silent SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 9 16435990 16435990 G A SNP BNC2 ENST00000380672 human ensembl 74_37 -1 known silent c.2202 p.G734 0.136 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BNC2 HGNC ENSG00000173068 68 0 0 44 35 44.3038 CNTLN 0 genome.wustl.edu 37 9 17226276 17226276 + Missense_Mutation SNP A A C TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 9 17226276 17226276 A C SNP CNTLN ENST00000380647 human ensembl 74_37 +1 known missense c.525 p.E175D 1.000 superfamily_Prefoldin superfamily_Prefoldin - no_errors CNTLN HGNC ENSG00000044459 29 0 0 21 10 32.2581 ACER2 0 genome.wustl.edu 37 9 19424786 19424786 + Silent SNP T T G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 9 19424786 19424786 T G SNP ACER2 ENST00000340967 human ensembl 74_37 +1 known silent c.312 p.A104 0.846 pfam_Ceramidase pfam_Ceramidase - no_errors ACER2 HGNC ENSG00000177076 119 0 0 55 44 44.4444 SLC24A2 0 genome.wustl.edu 37 9 19516258 19516258 + Nonsense_Mutation SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 9 19516258 19516258 G A SNP SLC24A2 ENST00000341998 human ensembl 74_37 -1 known nonsense c.1879 p.R627* 0.994 pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger - no_errors SLC24A2 HGNC ENSG00000155886 165 0 0 86 64 42.6667 IFT74 0 genome.wustl.edu 37 9 26984556 26984556 + Missense_Mutation SNP T T C TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 9 26984556 26984556 T C SNP IFT74 ENST00000380062 human ensembl 74_37 +1 known missense c.464 p.M155T 1.000 NULL NULL - no_errors IFT74 HGNC ENSG00000096872 101 0 0 75 27 26.4706 C9orf72 0 genome.wustl.edu 37 9 27566788 27566788 + Missense_Mutation SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 9 27566788 27566788 C T SNP C9orf72 ENST00000380003 human ensembl 74_37 -1 known missense c.331 p.G111R 1.000 NULL NULL - no_errors C9orf72 HGNC ENSG00000147894 70 0 0 48 32 40 TAF1L 0 genome.wustl.edu 37 9 32635575 32635575 + Missense_Mutation SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 9 32635575 32635575 C T SNP TAF1L ENST00000242310 human ensembl 74_37 -1 known missense c.3 p.M1I 0.032 pirsf_TAF1_animal 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 TAF1L HGNC ENSG00000122728 39 0 0 22 13 37.1429 PRSS3 0 genome.wustl.edu 37 9 33797910 33797910 + Missense_Mutation SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 9 33797910 33797910 G A SNP PRSS3 ENST00000361005 human ensembl 74_37 +1 known missense c.455 p.R152H 0.994 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 PRSS3 HGNC ENSG00000010438 146 0 0 78 52 40 PIGO 0 genome.wustl.edu 37 9 35091339 35091339 + Silent SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 9 35091339 35091339 G A SNP PIGO ENST00000341666 human ensembl 74_37 -1 known silent c.2545 p.L849 1.000 NULL pfam_Phosphodiest/P_Trfase,pfam_Metalloenzyme,pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors PIGO HGNC ENSG00000165282 68 0 0 32 21 39.6226 RUSC2 0 genome.wustl.edu 37 9 35558504 35558504 + Missense_Mutation SNP A A G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 9 35558504 35558504 A G SNP RUSC2 ENST00000361226 human ensembl 74_37 +1 known missense c.3281 p.Q1094R 1.000 pfam_Run,pfscan_Run pfam_Run,pfam_SH3_2,superfamily_SH3_domain,smart_Run,smart_SH3_domain,pfscan_Run,pfscan_SH3_domain - no_errors RUSC2 HGNC ENSG00000198853 239 0 0 148 73 33.0317 OR13J1 0 genome.wustl.edu 37 9 35869672 35869672 + Missense_Mutation SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 9 35869672 35869672 C T SNP OR13J1 ENST00000377981 human ensembl 74_37 -1 known missense c.727 p.A243T 0.033 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 OR13J1 HGNC ENSG00000168828 49 0 0 37 19 33.9286 RANBP6 0 genome.wustl.edu 37 9 6013657 6013657 + Missense_Mutation SNP A A C TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 9 6013657 6013657 A C SNP RANBP6 ENST00000259569 human ensembl 74_37 -1 known missense c.1951 p.L651V 1.000 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold - no_errors RANBP6 HGNC ENSG00000137040 165 0 0 126 7 5.26316 LOC100996870 0 genome.wustl.edu 37 9 66466226 66466226 + RNA SNP A A G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 9 66466226 66466226 A G SNP LOC100996870 ENST00000424345 human ensembl 74_37 +1 known rna NULL NULL 0.005 - - - no_errors RP11-262H14.1 Clone_based_vega_gene ENSG00000238113 39 0 0 30 5 14.2857 TMEM2 0 genome.wustl.edu 37 9 74360369 74360369 + Missense_Mutation SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 9 74360369 74360369 G A SNP TMEM2 ENST00000377044 human ensembl 74_37 -1 known missense c.599 p.A200V 1.000 pfam_G8_domain pfam_G8_domain,superfamily_Pectin_lyase_fold/virulence - no_errors TMEM2 HGNC ENSG00000135048 142 0 0 95 53 35.8108 GNAQ 0 genome.wustl.edu 37 9 80336240 80336240 + Silent SNP T T C TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 9 80336240 80336240 T C SNP GNAQ ENST00000286548 human ensembl 74_37 -1 known silent c.1079 p.*360 0.997 NULL 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_Q,prints_Fungi_Gprotein_alpha - no_errors GNAQ HGNC ENSG00000156052 65 0 0 16 15 48.3871 SPATA31D5P 0 genome.wustl.edu 37 9 84530473 84530473 + RNA SNP T T C TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 9 84530473 84530473 T C SNP SPATA31D5P ENST00000527857 human ensembl 74_37 +1 known rna NULL NULL 0.007 - - - no_errors SPATA31D5P HGNC ENSG00000240632 62 0 0 38 27 41.5385 PTPRD 0 genome.wustl.edu 37 9 8484205 8484205 + Silent SNP A A G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 9 8484205 8484205 A G SNP PTPRD ENST00000356435 human ensembl 74_37 -1 known silent c.3327 p.R1109 0.773 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,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRD HGNC ENSG00000153707 75 0 0 61 5 7.57576 PHF2 0 genome.wustl.edu 37 9 96428055 96428055 + Silent SNP T T C TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 9 96428055 96428055 T C SNP PHF2 ENST00000359246 human ensembl 74_37 +1 known silent c.2025 p.D675 0.929 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 205 0 0 150 25 14.2857 PTPDC1 0 genome.wustl.edu 37 9 96860859 96860859 + Nonsense_Mutation SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 9 96860859 96860859 C T SNP PTPDC1 ENST00000375360 human ensembl 74_37 +1 known nonsense c.1849 p.Q617* 1.000 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 - no_errors PTPDC1 HGNC ENSG00000158079 59 0 0 44 30 40.5405 DRP2 0 genome.wustl.edu 37 X 100511132 100511132 + Missense_Mutation SNP C C G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd X 100511132 100511132 C G SNP DRP2 ENST00000395209 human ensembl 74_37 +1 known missense c.2272 p.H758D 1.000 pirsf_Dystrophin-related_2 pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_Znf_ZZ,pfam_Spectrin_repeat,pfam_WW_dom,superfamily_WW_dom,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin-related_2,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors DRP2 HGNC ENSG00000102385 96 0 0 57 37 39.3617 WWC3 0 genome.wustl.edu 37 X 10106971 10106971 + Missense_Mutation SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd X 10106971 10106971 C T SNP WWC3 ENST00000380861 human ensembl 74_37 +1 known missense c.3079 p.R1027W 0.998 NULL superfamily_C2_dom - no_errors WWC3 HGNC ENSG00000047644 12 0 0 7 9 56.25 NXF4 0 genome.wustl.edu 37 X 101826168 101826168 + RNA SNP A A G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd X 101826168 101826168 A G SNP NXF4 ENST00000360035 human ensembl 74_37 +1 known rna NULL NULL 0.028 - - - no_errors NXF4 HGNC ENSG00000196970 32 0 0 12 11 47.8261 BHLHB9 0 genome.wustl.edu 37 X 102004719 102004719 + Missense_Mutation SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd X 102004719 102004719 C T SNP BHLHB9 ENST00000361229 human ensembl 74_37 +1 known missense c.796 p.R266C 0.001 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold - no_errors BHLHB9 HGNC ENSG00000198908 118 0 0 81 56 40.8759 GUCY2F 0 genome.wustl.edu 37 X 108718959 108718959 + Missense_Mutation SNP C C A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd X 108718959 108718959 C A SNP GUCY2F ENST00000218006 human ensembl 74_37 -1 known missense c.207 p.K69N 1.000 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 96 0 0 107 20 15.748 TRPC5 0 genome.wustl.edu 37 X 111155719 111155719 + Missense_Mutation SNP C C G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd X 111155719 111155719 C G SNP TRPC5 ENST00000262839 human ensembl 74_37 -1 known missense c.700 p.E234Q 1.000 pfam_TRP_dom,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 220 1 0.452489 133 73 35.4369 SLC25A5 0 genome.wustl.edu 37 X 118604463 118604463 + Silent SNP A A G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd X 118604463 118604463 A G SNP SLC25A5 ENST00000317881 human ensembl 74_37 +1 known silent c.726 p.S242 0.492 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,prints_Aden_trnslctor - no_errors SLC25A5 HGNC ENSG00000005022 87 0 0 67 4 5.6338 CUL4B 0 genome.wustl.edu 37 X 119669715 119669715 + Silent SNP T T C TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd X 119669715 119669715 T C SNP CUL4B ENST00000404115 human ensembl 74_37 -1 known silent c.2184 p.G728 0.998 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 CUL4B HGNC ENSG00000158290 156 0 0 100 77 43.5028 CT47B1 0 genome.wustl.edu 37 X 120009203 120009203 + Missense_Mutation SNP A A T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd X 120009203 120009203 A T SNP CT47B1 ENST00000371311 human ensembl 74_37 -1 known missense c.322 p.L108M 0.000 NULL NULL - no_errors CT47B1 HGNC ENSG00000236446 46 0 0 23 11 32.3529 TENM1 0 genome.wustl.edu 37 X 123517645 123517645 + Missense_Mutation SNP T T C TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd X 123517645 123517645 T C SNP TENM1 ENST00000422452 human ensembl 74_37 -1 known missense c.7136 p.H2379R 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 130 1 0.763359 74 31 29.5238 TENM1 0 genome.wustl.edu 37 X 123526074 123526074 + Missense_Mutation SNP C C A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd X 123526074 123526074 C A SNP TENM1 ENST00000422452 human ensembl 74_37 -1 known missense c.5516 p.W1839L 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 89 0 0 89 14 13.5922 UTP14A 0 genome.wustl.edu 37 X 129055391 129055391 + Missense_Mutation SNP C C G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd X 129055391 129055391 C G SNP UTP14A ENST00000394422 human ensembl 74_37 +1 known missense c.1176 p.D392E 0.004 pfam_SSU_processome_Utp14 pfam_SSU_processome_Utp14 - no_errors UTP14A HGNC ENSG00000156697 105 0 0 68 35 33.9806 IGSF1 0 genome.wustl.edu 37 X 130410940 130410940 + Missense_Mutation SNP T T C TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd X 130410940 130410940 T C SNP IGSF1 ENST00000370903 human ensembl 74_37 -1 known missense c.2596 p.S866G 1.000 smart_Ig_sub,pfscan_Ig-like_dom pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors IGSF1 HGNC ENSG00000147255 215 1 0.462963 119 67 36.0215 FRMD7 0 genome.wustl.edu 37 X 131216453 131216453 + Silent SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd X 131216453 131216453 C T SNP FRMD7 ENST00000298542 human ensembl 74_37 -1 known silent c.843 p.S281 0.016 pfam_FERM_PH-like_C,pfscan_FERM_domain pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM-adjacent,pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,prints_Band_41_fam,pfscan_FERM_domain - no_errors FRMD7 HGNC ENSG00000165694 386 0 0 241 128 34.6883 GPR112 0 genome.wustl.edu 37 X 135405357 135405357 + Missense_Mutation SNP T T C TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd X 135405357 135405357 T C SNP GPR112 ENST00000370652 human ensembl 74_37 +1 known missense c.491 p.L164P 0.001 pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin 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 210 0 0 184 19 9.35961 MAGEC1 0 genome.wustl.edu 37 X 140995628 140995628 + Missense_Mutation SNP C C A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd X 140995628 140995628 C A SNP MAGEC1 ENST00000285879 human ensembl 74_37 +1 known missense c.2438 p.P813H 0.014 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEC1 HGNC ENSG00000155495 250 0 0 137 84 38.009 PRRG3 0 genome.wustl.edu 37 X 150869254 150869254 + Nonsense_Mutation SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd X 150869254 150869254 C T SNP PRRG3 ENST00000370353 human ensembl 74_37 +1 known nonsense c.445 p.R149* 0.864 NULL pfam_GLA_domain,superfamily_GLA_domain,smart_GLA_domain,pfscan_GLA_domain,prints_GLA_domain - no_errors PRRG3 HGNC ENSG00000130032 51 0 0 28 14 33.3333 CNGA2 0 genome.wustl.edu 37 X 150912578 150912578 + Nonsense_Mutation SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd X 150912578 150912578 C T SNP CNGA2 ENST00000329903 human ensembl 74_37 +1 known nonsense c.1603 p.R535* 1.000 pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom pfam_Ion_trans_dom,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGA2 HGNC ENSG00000183862 198 0 0 111 64 36.5714 ATP2B3 0 genome.wustl.edu 37 X 152814984 152814984 + Silent SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd X 152814984 152814984 C T SNP ATP2B3 ENST00000263519 human ensembl 74_37 +1 known silent c.1368 p.R456 0.997 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Ca-transp_plasma,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 158 0 0 103 53 33.9744 DUSP9 0 genome.wustl.edu 37 X 152915040 152915040 + Missense_Mutation SNP T T G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd X 152915040 152915040 T G SNP DUSP9 ENST00000342782 human ensembl 74_37 +1 known missense c.727 p.F243V 1.000 pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pirsf_MKP,pfscan_Dual-sp_phosphatase_subgr_cat pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pirsf_MKP,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP - no_errors DUSP9 HGNC ENSG00000130829 187 0 0 154 28 15.3846 ASB11 0 genome.wustl.edu 37 X 15307687 15307687 + Silent SNP A A G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd X 15307687 15307687 A G SNP ASB11 ENST00000480796 human ensembl 74_37 -1 known silent c.594 p.T198 0.659 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_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,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C - no_errors ASB11 HGNC ENSG00000165192 225 2 0.881057 251 14 5.28302 HCFC1 0 genome.wustl.edu 37 X 153219666 153219666 + Missense_Mutation SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd X 153219666 153219666 G A SNP HCFC1 ENST00000310441 human ensembl 74_37 -1 known missense c.4184 p.A1395V 0.266 NULL pfam_Kelch_2,pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3 - no_errors HCFC1 HGNC ENSG00000172534 38 0 0 14 13 48.1481 EMD 0 genome.wustl.edu 37 X 153609454 153609454 + Missense_Mutation SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd X 153609454 153609454 G A SNP EMD ENST00000369842 human ensembl 74_37 +1 known missense c.662 p.R221H 0.462 NULL pfam_LEM_dom,superfamily_LEM/LEM-like_dom,smart_LEM_dom,pfscan_LEM_dom - no_errors EMD HGNC ENSG00000102119 58 0 0 37 20 35.0877 SH3KBP1 0 genome.wustl.edu 37 X 19626152 19626152 + Silent SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd X 19626152 19626152 G A SNP SH3KBP1 ENST00000397821 human ensembl 74_37 -1 known silent c.909 p.D303 0.010 pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain,prints_Spectrin_alpha_SH3 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 70 0 0 39 38 49.3506 YY2 0 genome.wustl.edu 37 X 21875159 21875159 + Missense_Mutation SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd X 21875159 21875159 C T SNP YY2 ENST00000429584 human ensembl 74_37 +1 known missense c.557 p.T186I 0.029 pirsf_TF_Yin_yang smart_Znf_C2H2-like,pirsf_TF_Yin_yang,pfscan_Znf_C2H2 - no_errors YY2 HGNC ENSG00000230797 239 0 0 128 106 45.2991 POLA1 0 genome.wustl.edu 37 X 24742543 24742543 + Missense_Mutation SNP A A G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd X 24742543 24742543 A G SNP POLA1 ENST00000379068 human ensembl 74_37 +1 known missense c.1292 p.Y431C 1.000 pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,tigrfam_DNA-dir_DNA_pol_B_pol2 pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_Znf_DNA-dir_DNA_pol_B_alpha,pfam_DNA_pol_a_cat_su_N,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 POLA1 HGNC ENSG00000101868 65 0 0 58 5 7.93651 ARSE 0 genome.wustl.edu 37 X 2878425 2878425 + Missense_Mutation SNP T T C TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd X 2878425 2878425 T C SNP ARSE ENST00000381134 human ensembl 74_37 -1 known missense c.17 p.H6R 0.000 NULL pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors ARSE HGNC ENSG00000157399 68 0 0 62 16 20.5128 CXorf22 0 genome.wustl.edu 37 X 35938122 35938122 + Missense_Mutation SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd X 35938122 35938122 G A SNP CXorf22 ENST00000297866 human ensembl 74_37 +1 known missense c.206 p.R69H 0.022 NULL superfamily_PapD-like - no_errors CXorf22 HGNC ENSG00000165164 34 0 0 13 15 53.5714 XK 0 genome.wustl.edu 37 X 37553709 37553709 + Missense_Mutation SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd X 37553709 37553709 C T SNP XK ENST00000378616 human ensembl 74_37 +1 known missense c.416 p.A139V 1.000 pfam_Transport_prot_XK pfam_Transport_prot_XK - no_errors XK HGNC ENSG00000047597 18 0 0 12 5 29.4118 DUSP21 0 genome.wustl.edu 37 X 44703932 44703932 + Missense_Mutation SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd X 44703932 44703932 G A SNP DUSP21 ENST00000339042 human ensembl 74_37 +1 known missense c.554 p.R185H 0.000 NULL 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_famB,prints_Atypical_DUSP - no_errors DUSP21 HGNC ENSG00000189037 75 0 0 40 20 33.3333 SLC9A7 0 genome.wustl.edu 37 X 46508175 46508175 + Missense_Mutation SNP A A C TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd X 46508175 46508175 A C SNP SLC9A7 ENST00000328306 human ensembl 74_37 -1 known missense c.1405 p.L469V 0.991 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 67 0 0 41 35 46.0526 ZNF41 0 genome.wustl.edu 37 X 47308161 47308161 + Silent SNP A A G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd X 47308161 47308161 A G SNP ZNF41 ENST00000397050 human ensembl 74_37 -1 known silent c.1038 p.F346 0.920 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 ZNF41 HGNC ENSG00000147124 113 0 0 71 33 31.7308 WDR13 0 genome.wustl.edu 37 X 48458724 48458724 + Missense_Mutation SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd X 48458724 48458724 G A SNP WDR13 ENST00000218056 human ensembl 74_37 +1 known missense c.541 p.A181T 1.000 pfam_WD40_repeat,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 WDR13 HGNC ENSG00000101940 57 0 0 24 27 52.9412 AKAP4 0 genome.wustl.edu 37 X 49957256 49957256 + Missense_Mutation SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd X 49957256 49957256 G A SNP AKAP4 ENST00000358526 human ensembl 74_37 -1 known missense c.2108 p.S703F 1.000 pfam_AKAP_110_C,smart_AKAP_110 pfam_AKAP_110_C,pfam_RII_binding_1,smart_AKAP_110 - no_errors AKAP4 HGNC ENSG00000147081 83 0 0 53 31 36.9048 AKAP4 0 genome.wustl.edu 37 X 49958092 49958092 + Missense_Mutation SNP C C A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd X 49958092 49958092 C A SNP AKAP4 ENST00000358526 human ensembl 74_37 -1 known missense c.1272 p.E424D 0.968 pfam_AKAP_110_C,smart_AKAP_110 pfam_AKAP_110_C,pfam_RII_binding_1,smart_AKAP_110 - no_errors AKAP4 HGNC ENSG00000147081 155 0 0 92 56 37.8378 XAGE3 0 genome.wustl.edu 37 X 52893814 52893814 + Missense_Mutation SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd X 52893814 52893814 C T SNP XAGE3 ENST00000346279 human ensembl 74_37 -1 known missense c.303 p.M101I 0.009 pfam_GAGE pfam_GAGE - no_errors XAGE3 HGNC ENSG00000171402 99 0 0 46 51 52.5773 GNL3L 0 genome.wustl.edu 37 X 54559016 54559016 + Missense_Mutation SNP A A G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd X 54559016 54559016 A G SNP GNL3L ENST00000336470 human ensembl 74_37 +1 known missense c.17 p.H6R 0.995 NULL pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,superfamily_P-loop_NTPase,prints_GTP_binding_domain - no_errors GNL3L HGNC ENSG00000130119 151 0 0 87 57 39.5833 AMER1 0 genome.wustl.edu 37 X 63411827 63411827 + Missense_Mutation SNP C C A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd X 63411827 63411827 C A SNP AMER1 ENST00000330258 human ensembl 74_37 -1 known missense c.1340 p.G447V 0.021 pfam_Uncharacterised_FAM123 pfam_Uncharacterised_FAM123 - no_errors AMER1 HGNC ENSG00000184675 52 0 0 39 24 38.0952 FOXO4 0 genome.wustl.edu 37 X 70320655 70320655 + Missense_Mutation SNP G G A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd X 70320655 70320655 G A SNP FOXO4 ENST00000374259 human ensembl 74_37 +1 known missense c.575 p.R192H 1.000 pfscan_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXO4 HGNC ENSG00000184481 16 0 0 9 9 50 ACRC 0 genome.wustl.edu 37 X 70824105 70824105 + Missense_Mutation SNP T T A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd X 70824105 70824105 T A SNP ACRC ENST00000373695 human ensembl 74_37 +1 known missense c.978 p.D326E 0.000 NULL pfam_SprT-like_domain,smart_SprT-like_domain - no_errors ACRC HGNC ENSG00000147174 232 0 0 132 91 40.8072 ACRC 0 genome.wustl.edu 37 X 70824111 70824111 + Missense_Mutation SNP T T G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd X 70824111 70824111 T G SNP ACRC ENST00000373695 human ensembl 74_37 +1 known missense c.984 p.N328K 0.000 NULL pfam_SprT-like_domain,smart_SprT-like_domain - no_errors ACRC HGNC ENSG00000147174 215 0 0 124 81 39.5122 XIST 0 genome.wustl.edu 37 X 73062930 73062930 + RNA SNP C C T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd X 73062930 73062930 C T SNP XIST ENST00000429829 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors XIST HGNC ENSG00000229807 55 0 0 34 27 44.2623 XIST 0 genome.wustl.edu 37 X 73071272 73071272 + RNA SNP G G T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd X 73071272 73071272 G T SNP XIST ENST00000429829 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors XIST HGNC ENSG00000229807 262 0 0 153 95 38.3065 KIAA2022 0 genome.wustl.edu 37 X 73959959 73959959 + Missense_Mutation SNP C C A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd X 73959959 73959959 C A SNP KIAA2022 ENST00000055682 human ensembl 74_37 -1 known missense c.4433 p.G1478V 1.000 NULL NULL - no_errors KIAA2022 HGNC ENSG00000050030 77 0 0 52 22 29.7297 P2RY10 0 genome.wustl.edu 37 X 78216820 78216820 + Missense_Mutation SNP T T C TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd X 78216820 78216820 T C SNP P2RY10 ENST00000171757 human ensembl 74_37 +1 known missense c.803 p.M268T 0.997 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors P2RY10 HGNC ENSG00000078589 162 0 0 154 9 5.52147 POU3F4 0 genome.wustl.edu 37 X 82764202 82764202 + Missense_Mutation SNP G G T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd X 82764202 82764202 G T SNP POU3F4 ENST00000373200 human ensembl 74_37 +1 known missense c.870 p.K290N 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pirsf_Transcription_factor_POU,pfscan_Homeobox_dom,prints_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 39 0 0 23 19 45.2381 KAL1 0 genome.wustl.edu 37 X 8555928 8555928 + Silent SNP A A C TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd X 8555928 8555928 A C SNP KAL1 ENST00000262648 human ensembl 74_37 -1 known silent c.633 p.S211 0.856 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_WAP-type_4-diS_core,superfamily_Fibronectin_type3,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,smart_Fibronectin_type3,pfscan_Fibronectin_type3,prints_WAP-type_4-diS_core - no_errors KAL1 HGNC ENSG00000011201 26 0 0 24 9 27.2727 KAL1 0 genome.wustl.edu 37 X 8555953 8555953 + Missense_Mutation SNP T T G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd X 8555953 8555953 T G SNP KAL1 ENST00000262648 human ensembl 74_37 -1 known missense c.608 p.K203T 0.592 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_WAP-type_4-diS_core,superfamily_Fibronectin_type3,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,smart_Fibronectin_type3,pfscan_Fibronectin_type3,prints_WAP-type_4-diS_core - no_errors KAL1 HGNC ENSG00000011201 27 0 0 30 8 21.0526 DACH2 0 genome.wustl.edu 37 X 85950100 85950100 + Silent SNP T T G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd X 85950100 85950100 T G SNP DACH2 ENST00000373125 human ensembl 74_37 +1 known silent c.849 p.A283 0.998 NULL pfam_Transform_Ski,superfamily_DNA-bd_dom_put - no_errors DACH2 HGNC ENSG00000126733 33 0 0 24 14 36.8421 TGIF2LX 0 genome.wustl.edu 37 X 89177518 89177518 + Missense_Mutation SNP A A C TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd X 89177518 89177518 A C SNP TGIF2LX ENST00000283891 human ensembl 74_37 +1 known missense c.434 p.K145T 0.000 NULL pfam_Homeobox_dom,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors TGIF2LX HGNC ENSG00000153779 67 0 0 34 36 51.4286 DIAPH2 0 genome.wustl.edu 37 X 96502819 96502819 + Missense_Mutation SNP A A C TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd X 96502819 96502819 A C SNP DIAPH2 ENST00000324765 human ensembl 74_37 +1 known missense c.2825 p.K942T 1.000 pfam_FH2_Formin,smart_FH2_Formin pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_Drf_DAD,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors DIAPH2 HGNC ENSG00000147202 121 0 0 127 10 7.29927 UBE4B 0 genome.wustl.edu 37 1 10177642 10177642 + Frame_Shift_Del DEL A A - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 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 35 0 0 42 18 30 BCL9 0 genome.wustl.edu 37 1 147087679 147087680 + Frame_Shift_Del DEL AC AC - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 AC AC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 1 147087679 147087680 AC - DEL BCL9 ENST00000234739 human ensembl 74_37 +1 known frame_shift_del c.637_638 p.T213fs 1.000:1.000 NULL pfam_BCL9_beta-catenin-bd_dom - no_errors BCL9 HGNC ENSG00000116128 85 0 0 46 21 31.3433 ASH1L 0 genome.wustl.edu 37 1 155308000 155308000 + Frame_Shift_Del DEL T T - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 1 155308000 155308000 T - DEL ASH1L ENST00000368346 human ensembl 74_37 -1 known frame_shift_del c.8698 p.T2900fs 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 147 0 0 90 36 28.5714 IGSF9 0 genome.wustl.edu 37 1 159900128 159900128 + Frame_Shift_Del DEL C C - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 1 159900128 159900128 C - DEL IGSF9 ENST00000368094 human ensembl 74_37 -1 known frame_shift_del c.1915 p.V639fs 0.999 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors IGSF9 HGNC ENSG00000085552 77 0 0 61 24 28.2353 SHCBP1L 0 genome.wustl.edu 37 1 182908681 182908681 + Frame_Shift_Del DEL A A - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 1 182908681 182908681 A - DEL SHCBP1L ENST00000367547 human ensembl 74_37 -1 known frame_shift_del c.778 p.Y260fs 1.000 NULL superfamily_Pectin_lyase_fold/virulence,smart_Carb-bd_sugar_hydrolysis-dom,smart_PbH1 - no_errors SHCBP1L HGNC ENSG00000157060 21 0 0 12 10 45.4545 CAMSAP2 0 genome.wustl.edu 37 1 200822407 200822407 + Frame_Shift_Del DEL A A - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 1 200822407 200822407 A - DEL CAMSAP2 ENST00000236925 human ensembl 74_37 +1 known frame_shift_del c.3640 p.T1215fs 1.000 NULL pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrel-like,superfamily_CH-domain - no_errors CAMSAP2 HGNC ENSG00000118200 143 0 0 125 56 30.9392 PFKFB2 0 genome.wustl.edu 37 1 207241005 207241006 + Frame_Shift_Ins INS - - G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 1 207241005 207241006 - G INS PFKFB2 ENST00000367080 human ensembl 74_37 +1 known frame_shift_ins c.794_795 p.K267fs 0.739:0.739 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,pfam_Chromatin_KTI12,superfamily_P-loop_NTPase,smart_His_Pase_superF_clade-1,pirsf_Bifunct_6PFK/fruc_bisP_Ptase,prints_6Pfruct_kin - no_errors PFKFB2 HGNC ENSG00000123836 121 0 0 105 18 14.6341 SPRTN 0 genome.wustl.edu 37 1 231488893 231488894 + Frame_Shift_Ins INS - - T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 1 231488893 231488894 - T INS SPRTN ENST00000295050 human ensembl 74_37 +1 known frame_shift_ins c.1256_1257 p.I422fs 0.000:0.000 NULL pfam_SprT-like_domain,smart_SprT-like_domain,smart_Znf_Rad18_put - no_errors SPRTN HGNC ENSG00000010072 90 0 0 62 18 22.5 GGPS1 0 genome.wustl.edu 37 1 235505913 235505913 + Frame_Shift_Del DEL A A - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 1 235505913 235505913 A - DEL GGPS1 ENST00000282841 human ensembl 74_37 +1 known frame_shift_del c.729 p.K245fs 1.000 pfam_Polyprenyl_synt,superfamily_Terpenoid_synth pfam_Polyprenyl_synt,superfamily_Terpenoid_synth - no_errors GGPS1 HGNC ENSG00000152904 63 0 0 46 33 41.7722 CHRM3 0 genome.wustl.edu 37 1 240072444 240072444 + Frame_Shift_Del DEL A A - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 1 240072444 240072444 A - DEL CHRM3 ENST00000255380 human ensembl 74_37 +1 known frame_shift_del c.1693 p.K567fs 1.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M3_rcpt,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn - no_errors CHRM3 HGNC ENSG00000133019 43 0 0 66 9 12 OR2W3 0 genome.wustl.edu 37 1 248059733 248059733 + Frame_Shift_Del DEL C C - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 1 248059733 248059733 C - DEL OR2W3 ENST00000360358 human ensembl 74_37 +1 known frame_shift_del c.845 p.L284fs 0.057 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 OR2W3 HGNC ENSG00000238243 59 0 0 43 13 23.2143 RAB42 0 genome.wustl.edu 37 1 28920547 28920547 + Frame_Shift_Del DEL G G - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 1 28920547 28920547 G - DEL RAB42 ENST00000373826 human ensembl 74_37 +1 known frame_shift_del c.236 p.G81fs 1.000 superfamily_P-loop_NTPase pfam_Small_GTPase,superfamily_P-loop_NTPase,smart_Small_GTPase_Rab_type,prints_Small_GTPase - no_errors RAB42 HGNC ENSG00000188060 26 0 0 39 5 11.3636 COL16A1 0 genome.wustl.edu 37 1 32119201 32119202 + Frame_Shift_Ins INS - - G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 1 32119201 32119202 - G INS COL16A1 ENST00000271069 human ensembl 74_37 -1 known frame_shift_ins c.4611_4610 p.G1538fs 1.000:1.000 pfam_Collagen pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL16A1 HGNC ENSG00000084636 46 0 0 22 8 26.6667 PRDM16 0 genome.wustl.edu 37 1 3328152 3328152 + Frame_Shift_Del DEL C C - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 1 3328152 3328152 C - DEL PRDM16 ENST00000270722 human ensembl 74_37 +1 known frame_shift_del c.1391 p.S466fs 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 71 0 0 44 24 35.2941 TIE1 0 genome.wustl.edu 37 1 43772910 43772910 + Frame_Shift_Del DEL C C - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 1 43772910 43772910 C - DEL TIE1 ENST00000372476 human ensembl 74_37 +1 known frame_shift_del c.738 p.P248fs 0.382 smart_EG-like_dom,pfscan_EG-like_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_EG-like_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TIE1 HGNC ENSG00000066056 31 0 0 50 15 23.0769 FGGY 0 genome.wustl.edu 37 1 59812016 59812017 + Frame_Shift_Ins INS - - G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 1 59812016 59812017 - G INS FGGY ENST00000303721 human ensembl 74_37 +1 known frame_shift_ins c.411_412 p.V139fs 0.394:0.997 pfam_Carb_kinase_FGGY_N,tigrfam_Carb_kinase_FGGY-rel pfam_Carb_kinase_FGGY_C,pfam_Carb_kinase_FGGY_N,tigrfam_Carb_kinase_FGGY-rel - no_errors FGGY HGNC ENSG00000172456 78 0 0 59 11 15.7143 RPL22 0 genome.wustl.edu 37 1 6257785 6257785 + Frame_Shift_Del DEL T T - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 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 32 0 0 28 22 44 ATG4C 0 genome.wustl.edu 37 1 63284744 63284744 + Frame_Shift_Del DEL A A - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 1 63284744 63284744 A - DEL ATG4C ENST00000317868 human ensembl 74_37 +1 known frame_shift_del c.463 p.K156fs 0.991 pfam_Peptidase_C54 pfam_Peptidase_C54 - no_errors ATG4C HGNC ENSG00000125703 99 0 0 76 27 26.2136 ENSG00000223231 0 genome.wustl.edu 37 1 84259638 84259638 + RNA DEL A A - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 1 84259638 84259638 A - DEL ENSG00000223231 ENST00000411299 human ensembl 74_37 +1 novel rna NULL NULL 0.062 - - - no_errors AL035706.1 Clone_based_ensembl_gene ENSG00000223231 9 0 0 3 3 50 CLCA4 0 genome.wustl.edu 37 1 87031503 87031504 + Frame_Shift_Ins INS - - A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 1 87031503 87031504 - A INS CLCA4 ENST00000370563 human ensembl 74_37 +1 known frame_shift_ins c.754_755 p.T254fs 0.001:0.000 pfam_Cl_channel_Ca,tigrfam_CaCC_prot pfam_Cl_channel_Ca,pfam_DUF1973,pfam_VWF_A,superfamily_Fibronectin_type3,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot - no_errors CLCA4 HGNC ENSG00000016602 58 0 0 34 19 35.8491 PKN2 0 genome.wustl.edu 37 1 89206848 89206848 + Frame_Shift_Del DEL A A - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 1 89206848 89206848 A - DEL PKN2 ENST00000370521 human ensembl 74_37 +1 known frame_shift_del c.226 p.S78fs 1.000 pfam_HR1_rho-bd,superfamily_HR1_rho-bd,smart_HR1_rho-bd 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_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom - no_errors PKN2 HGNC ENSG00000065243 55 0 0 32 16 33.3333 ARHGAP29 0 genome.wustl.edu 37 1 94668131 94668131 + Frame_Shift_Del DEL T T - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 1 94668131 94668131 T - DEL ARHGAP29 ENST00000260526 human ensembl 74_37 -1 known frame_shift_del c.1112 p.K371fs 1.000 NULL 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 99 0 0 85 42 33.0709 SORCS1 0 genome.wustl.edu 37 10 108536340 108536340 + Frame_Shift_Del DEL A A - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 10 108536340 108536340 A - DEL SORCS1 ENST00000344440 human ensembl 74_37 -1 known frame_shift_del c.837 p.H280fs 1.000 smart_VPS10 pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom - no_errors SORCS1 HGNC ENSG00000108018 121 0 0 86 24 21.8182 ADD3 0 genome.wustl.edu 37 10 111893350 111893350 + Frame_Shift_Del DEL A A - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 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 150 0 0 124 41 24.8485 IKZF5 0 genome.wustl.edu 37 10 124758127 124758127 + Frame_Shift_Del DEL T T - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 10 124758127 124758127 T - DEL IKZF5 ENST00000368886 human ensembl 74_37 -1 known frame_shift_del c.15 p.K5fs 0.996 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors IKZF5 HGNC ENSG00000095574 67 0 0 68 7 9.33333 C10orf137 0 genome.wustl.edu 37 10 127434314 127434314 + Frame_Shift_Del DEL A A - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 10 127434314 127434314 A - DEL C10orf137 ENST00000356792 human ensembl 74_37 +1 known frame_shift_del c.2629 p.S879fs 1.000 NULL NULL - no_errors C10orf137 HGNC ENSG00000107938 83 0 0 84 30 26.3158 LRRC27 0 genome.wustl.edu 37 10 134188696 134188696 + Frame_Shift_Del DEL T T - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 10 134188696 134188696 T - DEL LRRC27 ENST00000368613 human ensembl 74_37 +1 known frame_shift_del c.1543 p.F516fs 0.960 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC27 HGNC ENSG00000148814 43 0 0 31 16 34.0426 RUFY2 0 genome.wustl.edu 37 10 70156583 70156583 + Frame_Shift_Del DEL T T - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 10 70156583 70156583 T - DEL RUFY2 ENST00000388768 human ensembl 74_37 -1 known frame_shift_del c.457 p.M153fs 0.996 pfam_Run,smart_Run,pfscan_Run pfam_Run,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Run,smart_Znf_FYVE,pfscan_Run,pfscan_Znf_FYVE-rel - no_errors RUFY2 HGNC ENSG00000204130 82 0 0 83 5 5.68182 HTR7 0 genome.wustl.edu 37 10 92502287 92502288 + Splice_Site INS - - A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 10 92502287 92502288 - A INS HTR7 ENST00000336152 human ensembl 74_37 -1 known splice_site_ins c.1394-3_1394-2 e4-2 0.999:0.019 - - - no_errors HTR7 HGNC ENSG00000148680 40 0 0 55 5 8.33333 CWF19L2 0 genome.wustl.edu 37 11 107207381 107207381 + Frame_Shift_Del DEL A A - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 11 107207381 107207381 A - DEL CWF19L2 ENST00000282251 human ensembl 74_37 -1 known frame_shift_del c.2261 p.L754fs 1.000 pfam_Cwf19-like_C_dom-1,superfamily_HIT-like pfam_Cwf19-like_C_dom-1,pfam_Cwf19-like_C_dom-2,superfamily_HIT-like - no_errors CWF19L2 HGNC ENSG00000152404 21 0 0 12 6 33.3333 BCL9L 0 genome.wustl.edu 37 11 118769560 118769560 + Frame_Shift_Del DEL G G - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 11 118769560 118769560 G - DEL BCL9L ENST00000334801 human ensembl 74_37 -1 known frame_shift_del c.4064 p.P1355fs 1.000 NULL pfam_BCL9_beta-catenin-bd_dom - no_errors BCL9L HGNC ENSG00000186174 51 0 0 47 21 30.8824 SOX6 0 genome.wustl.edu 37 11 16119182 16119184 + In_Frame_Del DEL AGC AGC - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 AGC AGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 11 16119182 16119184 AGC - DEL SOX6 ENST00000352083 human ensembl 74_37 -1 known in_frame_del c.951_949 p.A317in_frame_del 1.000:1.000:1.000 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX6 HGNC ENSG00000110693 74 0 0 40 20 33.3333 KCNA4 0 genome.wustl.edu 37 11 30032940 30032940 + Frame_Shift_Del DEL C C - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 11 30032940 30032940 C - DEL KCNA4 ENST00000328224 human ensembl 74_37 -1 known frame_shift_del c.1286 p.G429fs 1.000 pfam_Ion_trans_dom pfam_K_chnl_volt-dep_Kv1.4_TID,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_Kv1.4,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA4 HGNC ENSG00000182255 76 0 0 61 20 24.6914 ARL14EP 0 genome.wustl.edu 37 11 30352754 30352754 + Frame_Shift_Del DEL A A - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 11 30352754 30352754 A - DEL ARL14EP ENST00000282032 human ensembl 74_37 +1 known frame_shift_del c.259 p.N89fs 1.000 NULL NULL - no_errors ARL14EP HGNC ENSG00000152219 101 0 0 93 43 31.6176 PAMR1 0 genome.wustl.edu 37 11 35513670 35513670 + Frame_Shift_Del DEL C C - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 11 35513670 35513670 C - DEL PAMR1 ENST00000278360 human ensembl 74_37 -1 known frame_shift_del c.302 p.G101fs 0.999 smart_EG-like_dom pfam_Peptidase_S1,pfam_CUB_dom,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_EG-like_dom,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1 - no_errors PAMR1 HGNC ENSG00000149090 360 0 0 269 121 31.0256 ART1 0 genome.wustl.edu 37 11 3681478 3681478 + Frame_Shift_Del DEL C C - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 11 3681478 3681478 C - DEL ART1 ENST00000250693 human ensembl 74_37 +1 known frame_shift_del c.729 p.F246fs 0.999 pfam_ART,prints_ART pfam_ART,prints_ART - no_errors ART1 HGNC ENSG00000129744 45 0 0 39 29 42.6471 LOC440040 0 genome.wustl.edu 37 11 49831959 49831959 + RNA DEL A A - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 11 49831959 49831959 A - DEL LOC440040 ENST00000527477 human ensembl 74_37 +1 known rna NULL NULL 0.803 - - - no_errors RP11-707M1.1 Clone_based_vega_gene ENSG00000205035 24 0 0 10 6 37.5 ROM1 0 genome.wustl.edu 37 11 62382265 62382265 + Frame_Shift_Del DEL C C - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 11 62382265 62382265 C - DEL ROM1 ENST00000278833 human ensembl 74_37 +1 known frame_shift_del c.1010 p.P338fs 0.647 NULL pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Peripherin/rom-1 - no_errors ROM1 HGNC ENSG00000149489 41 0 0 38 20 34.4828 MALAT1 0 genome.wustl.edu 37 11 65272638 65272639 + RNA INS - - T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 11 65272638 65272639 - T INS MALAT1 ENST00000534336 human ensembl 74_37 +1 known rna NULL NULL 1.000:1.000 - - - no_errors MALAT1 HGNC ENSG00000251562 50 0 0 45 11 19.6429 TUB 0 genome.wustl.edu 37 11 8118863 8118863 + Frame_Shift_Del DEL C C - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 11 8118863 8118863 C - DEL TUB ENST00000305253 human ensembl 74_37 +1 known frame_shift_del c.941 p.Q316fs 0.999 pfam_Tubby_C,superfamily_Tubby_C-like pfam_Tubby_C,superfamily_Tubby_C-like,prints_Tubby_N,prints_Tubby_C - no_errors TUB HGNC ENSG00000166402 93 0 0 64 25 28.0899 SYTL2 0 genome.wustl.edu 37 11 85437306 85437306 + Frame_Shift_Del DEL T T - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 11 85437306 85437306 T - DEL SYTL2 ENST00000359152 human ensembl 74_37 -1 known frame_shift_del c.1766 p.N589fs 0.028 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors SYTL2 HGNC ENSG00000137501 104 0 0 67 30 30.9278 TCHP 0 genome.wustl.edu 37 12 110344435 110344435 + Frame_Shift_Del DEL A A - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 12 110344435 110344435 A - DEL TCHP ENST00000312777 human ensembl 74_37 +1 known frame_shift_del c.515 p.K174fs 1.000 NULL NULL - no_errors TCHP HGNC ENSG00000139437 62 0 0 82 14 14.5833 SBNO1 0 genome.wustl.edu 37 12 123794283 123794283 + Frame_Shift_Del DEL T T - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 12 123794283 123794283 T - DEL SBNO1 ENST00000420886 human ensembl 74_37 -1 known frame_shift_del c.3416 p.N1139fs 1.000 NULL pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Prismane-like - no_errors SBNO1 HGNC ENSG00000139697 143 0 0 115 52 31.1377 IAPP 0 genome.wustl.edu 37 12 21531328 21531329 + Frame_Shift_Ins INS - - AG TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 12 21531328 21531329 - AG INS IAPP ENST00000240652 human ensembl 74_37 +1 known frame_shift_ins c.238_239 p.P83fs 0.296:0.305 NULL pfam_Procalcitonin/adrenomedullin,smart_Calcitonin_peptide-like,prints_Pro-islet_amyloid_polypep - no_errors IAPP HGNC ENSG00000121351 112 0 0 87 16 15.534 ABCC9 0 genome.wustl.edu 37 12 22068696 22068696 + Frame_Shift_Del DEL T T - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 12 22068696 22068696 T - DEL ABCC9 ENST00000261200 human ensembl 74_37 -1 known frame_shift_del c.722 p.K241fs 1.000 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,prints_Sulphorea_rcpt,prints_Sulphonylurea_rcpt-2 - no_errors ABCC9 HGNC ENSG00000069431 90 0 0 69 33 32.3529 HDAC7 0 genome.wustl.edu 37 12 48181527 48181527 + Frame_Shift_Del DEL G G - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 12 48181527 48181527 G - DEL HDAC7 ENST00000380610 human ensembl 74_37 -1 known frame_shift_del c.2472 p.M825fs 0.995 pfam_His_deacetylse_dom,pirsf_Histone_deAcase_II_euk pfam_His_deacetylse_dom,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse - no_errors HDAC7 HGNC ENSG00000061273 15 0 0 17 4 19.0476 TENC1 0 genome.wustl.edu 37 12 53452903 53452903 + Frame_Shift_Del DEL C C - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 12 53452903 53452903 C - DEL TENC1 ENST00000314276 human ensembl 74_37 +1 known frame_shift_del c.1508 p.P505fs 0.202 NULL pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH2,smart_PTB/PI_dom,pfscan_SH2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TENC1 HGNC ENSG00000111077 34 0 0 26 6 18.75 BEST3 0 genome.wustl.edu 37 12 70049361 70049362 + Frame_Shift_Ins INS - - G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 12 70049361 70049362 - G INS BEST3 ENST00000330891 human ensembl 74_37 -1 known frame_shift_ins c.1333_1332 p.R444fs 0.001:0.001 NULL pfam_Bestrophin/UPF0187 - no_errors BEST3 HGNC ENSG00000127325 66 0 0 51 26 33.7662 ATN1 0 genome.wustl.edu 37 12 7045189 7045189 + Frame_Shift_Del DEL C C - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 12 7045189 7045189 C - DEL ATN1 ENST00000356654 human ensembl 74_37 +1 known frame_shift_del c.759 p.P255fs 1.000 NULL pfam_Atrophin-like,prints_Atrophin-1 - no_errors ATN1 HGNC ENSG00000111676 42 0 0 20 16 44.4444 CEP290 0 genome.wustl.edu 37 12 88512305 88512305 + Frame_Shift_Del DEL T T - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 12 88512305 88512305 T - DEL CEP290 ENST00000309041 human ensembl 74_37 -1 known frame_shift_del c.1672 p.I558fs 0.983 NULL NULL - no_errors CEP290 HGNC ENSG00000198707 18 0 0 10 5 33.3333 PZP 0 genome.wustl.edu 37 12 9321561 9321565 + Frame_Shift_Del DEL ATCCC ATCCC - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 ATCCC ATCCC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 12 9321561 9321565 ATCCC - DEL PZP ENST00000261336 human ensembl 74_37 -1 known frame_shift_del c.2011_2007 p.M669fs 0.004:0.003:0.880:0.928:0.925 NULL pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_SV_autoAg,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd - no_errors PZP HGNC ENSG00000126838 71 0 0 52 11 17.4603 CCDC168 0 genome.wustl.edu 37 13 103381996 103381996 + Frame_Shift_Del DEL A A - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 13 103381996 103381996 A - DEL CCDC168 ENST00000322527 human ensembl 74_37 -1 known frame_shift_del c.7164 p.F2388fs 0.998 NULL NULL - no_errors CCDC168 HGNC ENSG00000175820 12 0 0 20 7 25.9259 COL4A2 0 genome.wustl.edu 37 13 111156324 111156324 + Frame_Shift_Del DEL C C - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 13 111156324 111156324 C - DEL COL4A2 ENST00000360467 human ensembl 74_37 +1 known frame_shift_del c.4269 p.G1426fs 0.956 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A2 HGNC ENSG00000134871 26 0 0 31 8 20.5128 TMCO3 0 genome.wustl.edu 37 13 114201627 114201628 + Frame_Shift_Ins INS - - C TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 13 114201627 114201628 - C INS TMCO3 ENST00000434316 human ensembl 74_37 +1 known frame_shift_ins c.1703_1704 p.T570fs 1.000:1.000 pfam_Cation/H_exchanger pfam_Cation/H_exchanger - no_errors TMCO3 HGNC ENSG00000150403 74 0 0 73 22 23.1579 UPF3A 0 genome.wustl.edu 37 13 115057211 115057211 + Frame_Shift_Del DEL A A - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 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 26 0 0 23 12 34.2857 RNF6 0 genome.wustl.edu 37 13 26788240 26788241 + Frame_Shift_Ins INS - - A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 13 26788240 26788241 - A INS RNF6 ENST00000346166 human ensembl 74_37 -1 known frame_shift_ins c.1779_1778 p.L593fs 0.999:1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF6 HGNC ENSG00000127870 125 0 0 166 32 16.1616 FRY 0 genome.wustl.edu 37 13 32821607 32821607 + Frame_Shift_Del DEL A A - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 13 32821607 32821607 A - DEL FRY ENST00000380250 human ensembl 74_37 +1 known frame_shift_del c.6976 p.T2327fs 0.999 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FRY HGNC ENSG00000073910 87 0 0 93 29 23.7705 RFC3 0 genome.wustl.edu 37 13 34398063 34398063 + Frame_Shift_Del DEL A A - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 13 34398063 34398063 A - DEL RFC3 ENST00000380071 human ensembl 74_37 +1 known frame_shift_del c.235 p.I82fs 1.000 pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,superfamily_DNA_pol3_clamp-load_cplx_C,smart_AAA+_ATPase - no_errors RFC3 HGNC ENSG00000133119 16 0 0 27 5 15.625 PCDH8 0 genome.wustl.edu 37 13 53422549 53422549 + Frame_Shift_Del DEL C C - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 13 53422549 53422549 C - DEL PCDH8 ENST00000377942 human ensembl 74_37 -1 known frame_shift_del c.23 p.G8fs 1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH8 HGNC ENSG00000136099 38 0 0 52 10 16.129 PCDH17 0 genome.wustl.edu 37 13 58208750 58208750 + Frame_Shift_Del DEL G G - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 13 58208750 58208750 G - DEL PCDH17 ENST00000377918 human ensembl 74_37 +1 known frame_shift_del c.2070 p.V692fs 0.977 pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH17 HGNC ENSG00000118946 89 0 0 98 19 16.2393 PLD4 0 genome.wustl.edu 37 14 105397187 105397187 + Frame_Shift_Del DEL A A - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 14 105397187 105397187 A - DEL PLD4 ENST00000392593 human ensembl 74_37 +1 known frame_shift_del c.826 p.T277fs 0.024 NULL pfam_PLipase_D/transphosphatidylase,smart_PLipase_D/transphosphatidylase,pfscan_PLipase_D/transphosphatidylase - no_errors PLD4 HGNC ENSG00000166428 134 0 0 142 10 6.57895 LRP10 0 genome.wustl.edu 37 14 23341527 23341529 + In_Frame_Del DEL CCT CCT - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 CCT CCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 14 23341527 23341529 CCT - DEL LRP10 ENST00000359591 human ensembl 74_37 +1 known in_frame_del c.15_17 p.L9in_frame_del 0.719:0.834:0.924 NULL pfam_LDrepeatLR_classA_rpt,pfam_CUB_dom,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 LRP10 HGNC ENSG00000197324 52 0 0 58 15 20.5479 CDH24 0 genome.wustl.edu 37 14 23523785 23523785 + Frame_Shift_Del DEL C C - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 14 23523785 23523785 C - DEL CDH24 ENST00000267383 human ensembl 74_37 -1 known frame_shift_del c.714 p.L239fs 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH24 HGNC ENSG00000139880 48 0 0 35 22 38.5965 INSM2 0 genome.wustl.edu 37 14 36005056 36005057 + Frame_Shift_Ins INS - - T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 14 36005056 36005057 - T INS INSM2 ENST00000307169 human ensembl 74_37 +1 known frame_shift_ins c.1598_1599 p.S536fs 1.000:0.624 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors INSM2 HGNC ENSG00000168348 40 0 0 24 16 40 KLHL28 0 genome.wustl.edu 37 14 45414534 45414534 + Frame_Shift_Del DEL A A - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 14 45414534 45414534 A - DEL KLHL28 ENST00000396128 human ensembl 74_37 -1 known frame_shift_del c.598 p.Y200fs 1.000 pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL28 HGNC ENSG00000179454 96 0 0 72 26 26.5306 SYNE2 0 genome.wustl.edu 37 14 64655326 64655326 + Frame_Shift_Del DEL A A - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 14 64655326 64655326 A - DEL SYNE2 ENST00000358025 human ensembl 74_37 +1 known frame_shift_del c.17771 p.N5926fs 1.000 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 91 0 0 75 23 23.4694 ELMSAN1 0 genome.wustl.edu 37 14 74186016 74186016 + Frame_Shift_Del DEL T T - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 14 74186016 74186016 T - DEL ELMSAN1 ENST00000286523 human ensembl 74_37 -1 known frame_shift_del c.3126 p.K1042fs 0.978 NULL pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom - no_errors ELMSAN1 HGNC ENSG00000156030 25 0 0 21 6 22.2222 FAM181A 0 genome.wustl.edu 37 14 94395475 94395475 + Frame_Shift_Del DEL C C - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 14 94395475 94395475 C - DEL FAM181A ENST00000267594 human ensembl 74_37 +1 known frame_shift_del c.1030 p.P345fs 0.984 NULL NULL - no_errors FAM181A HGNC ENSG00000140067 43 0 0 25 11 30.5556 SETD3 0 genome.wustl.edu 37 14 99871696 99871696 + Frame_Shift_Del DEL A A - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 14 99871696 99871696 A - DEL SETD3 ENST00000331768 human ensembl 74_37 -1 known frame_shift_del c.937 p.Y313fs 1.000 pfam_SET_dom pfam_Rubisco_LSMT_subst-bd,pfam_SET_dom,superfamily_Rubisco_LSMT_subst-bd - no_errors SETD3 HGNC ENSG00000183576 67 0 0 53 26 32.9114 SNHG14 0 genome.wustl.edu 37 15 25227196 25227196 + RNA DEL A A - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 15 25227196 25227196 A - DEL SNHG14 ENST00000459433 human ensembl 74_37 +1 known rna NULL NULL 0.486 - - - no_errors SNHG14 HGNC ENSG00000224078 275 0 0 231 15 6.09756 TMCO5A 0 genome.wustl.edu 37 15 38228551 38228551 + Frame_Shift_Del DEL A A - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 15 38228551 38228551 A - DEL TMCO5A ENST00000319669 human ensembl 74_37 +1 known frame_shift_del c.27 p.R11fs 1.000 NULL NULL - no_errors TMCO5A HGNC ENSG00000166069 138 0 0 97 33 25.3846 BUB1B 0 genome.wustl.edu 37 15 40477506 40477506 + Frame_Shift_Del DEL C C - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 15 40477506 40477506 C - DEL BUB1B ENST00000412359 human ensembl 74_37 +1 known frame_shift_del c.934 p.M314fs 1.000 NULL pfam_Mad3_BUB1_I,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Mad3_BUB1_I - no_errors BUB1B HGNC ENSG00000156970 148 0 0 122 36 22.7848 PLA2G4E 0 genome.wustl.edu 37 15 42302336 42302338 + In_Frame_Del DEL CCA CCA - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 CCA CCA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 15 42302336 42302338 CCA - DEL PLA2G4E ENST00000413860 human ensembl 74_37 -1 known in_frame_del c.110_108 p.G38in_frame_del 0.066:0.047:0.024 pfscan_C2_dom pfam_LysoPLipase_cat_dom,pfam_C2_dom,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_dom,smart_C2_dom,smart_LysoPLipase_cat_dom,pfscan_C2_dom,pfscan_LysoPLipase_cat_dom - no_errors PLA2G4E HGNC ENSG00000188089 18 0 0 17 8 32 ZNF106 0 genome.wustl.edu 37 15 42742957 42742957 + Frame_Shift_Del DEL A A - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 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 201 0 0 206 12 5.50459 TP53BP1 0 genome.wustl.edu 37 15 43748661 43748661 + Frame_Shift_Del DEL T T - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 15 43748661 43748661 T - DEL TP53BP1 ENST00000382044 human ensembl 74_37 -1 known frame_shift_del c.2145 p.E716fs 0.002 NULL pfam_53-BP1_Tudor,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom - no_errors TP53BP1 HGNC ENSG00000067369 140 0 0 108 41 27.5168 RNF111 0 genome.wustl.edu 37 15 59376343 59376343 + Frame_Shift_Del DEL C C - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 15 59376343 59376343 C - DEL RNF111 ENST00000434298 human ensembl 74_37 +1 known frame_shift_del c.2340 p.P782fs 0.993 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF111 HGNC ENSG00000157450 48 0 0 33 43 56.5789 NARG2 0 genome.wustl.edu 37 15 60758863 60758863 + Frame_Shift_Del DEL A A - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 15 60758863 60758863 A - DEL NARG2 ENST00000261520 human ensembl 74_37 -1 known frame_shift_del c.458 p.L153fs 0.993 NULL pfam_NARG2_C - no_errors NARG2 HGNC ENSG00000128915 78 0 0 53 22 29.3333 CHRNA5 0 genome.wustl.edu 37 15 78882366 78882366 + Frame_Shift_Del DEL T T - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 15 78882366 78882366 T - DEL CHRNA5 ENST00000299565 human ensembl 74_37 +1 known frame_shift_del c.633 p.F213fs 0.958 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 CHRNA5 HGNC ENSG00000169684 112 0 0 91 16 14.9533 LOC338963 0 genome.wustl.edu 37 15 83381756 83381756 + RNA DEL T T - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 15 83381756 83381756 T - DEL LOC338963 ENST00000440479 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors AC105339.1 Clone_based_vega_gene ENSG00000228141 9 0 0 6 3 33.3333 BLM 0 genome.wustl.edu 37 15 91304139 91304139 + Frame_Shift_Del DEL A A - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 15 91304139 91304139 A - DEL BLM ENST00000355112 human ensembl 74_37 +1 known frame_shift_del c.1536 p.N515fs 0.003 NULL pfam_RQC_domain,pfam_BDHCT,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_HRDC_dom,superfamily_P-loop_NTPase,superfamily_HRDC-like,smart_Helicase_ATP-bd,smart_Helicase_C,smart_RQC_domain,smart_HRDC_dom,pfscan_HRDC_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors BLM HGNC ENSG00000197299 81 0 0 71 27 27.551 INO80E 0 genome.wustl.edu 37 16 30016653 30016653 + Frame_Shift_Del DEL C C - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 16 30016653 30016653 C - DEL INO80E ENST00000563197 human ensembl 74_37 +1 known frame_shift_del c.625 p.T212fs 1.000 NULL NULL - no_errors INO80E HGNC ENSG00000169592 9 0 0 5 3 37.5 SLX4 0 genome.wustl.edu 37 16 3647657 3647657 + Frame_Shift_Del DEL G G - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 16 3647657 3647657 G - DEL SLX4 ENST00000294008 human ensembl 74_37 -1 known frame_shift_del c.1406 p.P469fs 0.852 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors SLX4 HGNC ENSG00000188827 112 0 0 83 23 21.6981 CHD9 0 genome.wustl.edu 37 16 53348351 53348351 + Frame_Shift_Del DEL A A - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 16 53348351 53348351 A - DEL CHD9 ENST00000398510 human ensembl 74_37 +1 known frame_shift_del c.7285 p.R2431fs 1.000 NULL pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,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 CHD9 HGNC ENSG00000177200 22 0 0 21 6 22.2222 ZNF319 0 genome.wustl.edu 37 16 58031628 58031628 + Frame_Shift_Del DEL G G - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 16 58031628 58031628 G - DEL ZNF319 ENST00000299237 human ensembl 74_37 -1 known frame_shift_del c.542 p.P181fs 0.002 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF319 HGNC ENSG00000166188 65 0 0 54 17 23.9437 ADAMTS18 0 genome.wustl.edu 37 16 77356311 77356311 + Frame_Shift_Del DEL A A - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 16 77356311 77356311 A - DEL ADAMTS18 ENST00000282849 human ensembl 74_37 -1 known frame_shift_del c.2085 p.F695fs 0.998 NULL 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 107 0 0 85 40 32 VPS9D1 0 genome.wustl.edu 37 16 89783208 89783208 + Frame_Shift_Del DEL G G - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 16 89783208 89783208 G - DEL VPS9D1 ENST00000389386 human ensembl 74_37 -1 known frame_shift_del c.198 p.D67fs 0.118 NULL pfam_VPS9,smart_VPS9_subgr,pfscan_VPS9 - no_errors VPS9D1 HGNC ENSG00000075399 18 0 0 17 4 19.0476 EPN2 0 genome.wustl.edu 37 17 19232950 19232950 + Frame_Shift_Del DEL A A - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 17 19232950 19232950 A - DEL EPN2 ENST00000314728 human ensembl 74_37 +1 known frame_shift_del c.1401 p.T470fs 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 EPN2 HGNC ENSG00000072134 88 0 0 65 36 35.6436 UBBP4 0 genome.wustl.edu 37 17 21731489 21731489 + Frame_Shift_Del DEL C C - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 17 21731489 21731489 C - DEL UBBP4 ENST00000578713 human ensembl 74_37 +1 putative frame_shift_del c.564 p.D191fs 1.000 pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup,prints_Ubiquitin - no_errors UBBP4 HGNC ENSG00000263563 77 0 0 62 21 25.3012 KSR1 0 genome.wustl.edu 37 17 25910016 25910016 + Frame_Shift_Del DEL C C - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 17 25910016 25910016 C - DEL KSR1 ENST00000319524 human ensembl 74_37 +1 known frame_shift_del c.865 p.P291fs 0.999 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors KSR1 HGNC ENSG00000141068 11 0 0 7 5 41.6667 CLUH 0 genome.wustl.edu 37 17 2601713 2601713 + Frame_Shift_Del DEL C C - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 17 2601713 2601713 C - DEL CLUH ENST00000435359 human ensembl 74_37 -1 known frame_shift_del c.1324 p.D442fs 1.000 NULL superfamily_GSKIP_dom - no_errors CLUH HGNC ENSG00000132361 33 0 0 27 5 15.625 RPL23A 0 genome.wustl.edu 37 17 27047808 27047810 + In_Frame_Del DEL AAG AAG - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 AAG AAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 17 27047808 27047810 AAG - DEL RPL23A ENST00000422514 human ensembl 74_37 +1 known in_frame_del c.109_111 p.K39in_frame_del 1.000:1.000:1.000 pfam_Ribosomal_L23/L25_N pfam_Ribosomal_L23/L25_N,pfam_Ribosomal_L25/23,superfamily_Ribosomal_L23/L15e_core_dom,tigrfam_Ribosomal_L23 - no_errors RPL23A HGNC ENSG00000198242 101 0 0 109 10 8.40336 NR1D1 0 genome.wustl.edu 37 17 38252308 38252309 + Frame_Shift_Del DEL TC TC - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 TC TC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 17 38252308 38252309 TC - DEL NR1D1 ENST00000246672 human ensembl 74_37 -1 known frame_shift_del c.637_636 p.K213fs 1.000:1.000 NULL 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_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors NR1D1 HGNC ENSG00000126368 61 0 0 56 7 11.1111 GGT6 0 genome.wustl.edu 37 17 4461879 4461879 + Frame_Shift_Del DEL G G - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 17 4461879 4461879 G - DEL GGT6 ENST00000574154 human ensembl 74_37 -1 known frame_shift_del c.913 p.Q305fs 1.000 NULL pfam_GGT_peptidase,prints_GGT_peptidase - no_errors GGT6 HGNC ENSG00000167741 9 0 0 12 2 14.2857 KIF1C 0 genome.wustl.edu 37 17 4927147 4927147 + Frame_Shift_Del DEL C C - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 17 4927147 4927147 C - DEL KIF1C ENST00000320785 human ensembl 74_37 +1 known frame_shift_del c.3013 p.P1006fs 0.994 NULL pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1C HGNC ENSG00000129250 33 0 0 28 9 24.3243 RNFT1 0 genome.wustl.edu 37 17 58033900 58033900 + Frame_Shift_Del DEL A A - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 17 58033900 58033900 A - DEL RNFT1 ENST00000305783 human ensembl 74_37 -1 known frame_shift_del c.1020 p.F340fs 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNFT1 HGNC ENSG00000189050 49 0 0 38 20 34.4828 MIR633 0 genome.wustl.edu 37 17 61021673 61021673 + RNA DEL A A - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 17 61021673 61021673 A - DEL MIR633 ENST00000384821 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors MIR633 HGNC ENSG00000207552 12 0 0 6 2 25 DNAH2 0 genome.wustl.edu 37 17 7646597 7646597 + Frame_Shift_Del DEL T T - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 17 7646597 7646597 T - DEL DNAH2 ENST00000082259 human ensembl 74_37 +1 known frame_shift_del c.2287 p.S766fs 0.000 NULL pfam_Dynein_heavy_dom-1 - no_errors DNAH2 HGNC ENSG00000183914 14 0 0 8 11 57.8947 ENGASE 0 genome.wustl.edu 37 17 77073557 77073557 + Frame_Shift_Del DEL T T - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 17 77073557 77073557 T - DEL ENGASE ENST00000579016 human ensembl 74_37 +1 known frame_shift_del c.192 p.S66fs 0.020 NULL pfam_Glyco_hydro_85,pfscan_BRCT_dom - no_errors ENGASE HGNC ENSG00000167280 59 0 0 44 24 35.2941 ENSG00000252258 0 genome.wustl.edu 37 18 3025533 3025533 + RNA DEL A A - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 18 3025533 3025533 A - DEL ENSG00000252258 ENST00000516449 human ensembl 74_37 -1 novel rna NULL NULL 0.000 - - - no_errors SNORA70 RFAM ENSG00000252258 21 0 0 18 4 18.1818 FHOD3 0 genome.wustl.edu 37 18 34205516 34205516 + Frame_Shift_Del DEL C C - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 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 41 0 0 34 8 19.0476 TGIF1 0 genome.wustl.edu 37 18 3457752 3457753 + Frame_Shift_Del DEL CT CT - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 18 3457752 3457753 CT - DEL TGIF1 ENST00000330513 human ensembl 74_37 +1 known frame_shift_del c.1020_1021 p.L342fs 1.000:1.000 NULL pfam_Homeobox_KN_domain,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors TGIF1 HGNC ENSG00000177426 125 0 0 104 31 22.963 MYO5B 0 genome.wustl.edu 37 18 47480799 47480800 + Frame_Shift_Ins INS - - G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 18 47480799 47480800 - G INS MYO5B ENST00000285039 human ensembl 74_37 -1 known frame_shift_ins c.1552_1551 p.K517fs 1.000:1.000 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 74 0 0 45 12 21.0526 LMAN1 0 genome.wustl.edu 37 18 57013194 57013194 + Frame_Shift_Del DEL T T - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 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 70 0 0 73 24 24.7423 ECSIT 0 genome.wustl.edu 37 19 11618821 11618821 + Frame_Shift_Del DEL G G - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 19 11618821 11618821 G - DEL ECSIT ENST00000270517 human ensembl 74_37 -1 known frame_shift_del c.781 p.Q261fs 0.504 pfam_ECSIT pfam_ECSIT - no_errors ECSIT HGNC ENSG00000130159 79 0 0 64 32 33.3333 ZNF506 0 genome.wustl.edu 37 19 19916883 19916883 + Frame_Shift_Del DEL T T - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 19 19916883 19916883 T - DEL ZNF506 ENST00000443905 human ensembl 74_37 -1 known frame_shift_del c.183 p.K61fs 0.125 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 ZNF506 HGNC ENSG00000081665 141 0 0 111 31 21.831 KMT2B 0 genome.wustl.edu 37 19 36223002 36223002 + Frame_Shift_Del DEL G G - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 19 36223002 36223002 G - DEL KMT2B ENST00000222270 human ensembl 74_37 +1 known frame_shift_del c.5631 p.G1879fs 0.997 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 16 0 0 4 4 50 PLEKHG2 0 genome.wustl.edu 37 19 39913905 39913906 + Frame_Shift_Ins INS - - T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 19 39913905 39913906 - T INS PLEKHG2 ENST00000409794 human ensembl 74_37 +1 known frame_shift_ins c.2211_2212 p.G737fs 0.004:0.008 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG2 HGNC ENSG00000090924 73 0 0 50 9 15.2542 EXOC3L2 0 genome.wustl.edu 37 19 45716496 45716496 + Frame_Shift_Del DEL G G - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 19 45716496 45716496 G - DEL EXOC3L2 ENST00000252482 human ensembl 74_37 -1 known frame_shift_del c.1061 p.P354fs 0.365 NULL pfam_Sec6,superfamily_Tet_transcr_reg_TetR-rel_C - no_errors EXOC3L2 HGNC ENSG00000130201 13 0 0 18 7 28 TEAD2 0 genome.wustl.edu 37 19 49850473 49850473 + Frame_Shift_Del DEL G G - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 19 49850473 49850473 G - DEL TEAD2 ENST00000311227 human ensembl 74_37 -1 known frame_shift_del c.883 p.H295fs 0.961 pfam_TEA/ATTS,pirsf_TEF pfam_TEA/ATTS,smart_TEA/ATTS,pirsf_TEF,pfscan_TEA/ATTS,prints_TEA/ATTS - no_errors TEAD2 HGNC ENSG00000074219 106 0 0 103 43 29.4521 KLK1 0 genome.wustl.edu 37 19 51323227 51323227 + Frame_Shift_Del DEL T T - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 19 51323227 51323227 T - DEL KLK1 ENST00000301420 human ensembl 74_37 -1 known frame_shift_del c.561 p.A188fs 0.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1 - no_errors KLK1 HGNC ENSG00000167748 52 0 0 31 12 27.907 ZIM3 0 genome.wustl.edu 37 19 57646555 57646555 + Frame_Shift_Del DEL T T - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 19 57646555 57646555 T - DEL ZIM3 ENST00000269834 human ensembl 74_37 -1 known frame_shift_del c.1150 p.I384fs 0.890 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 ZIM3 HGNC ENSG00000141946 138 0 0 95 44 31.6547 ZNF543 0 genome.wustl.edu 37 19 57839258 57839258 + Frame_Shift_Del DEL G G - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 19 57839258 57839258 G - DEL ZNF543 ENST00000321545 human ensembl 74_37 +1 known frame_shift_del c.428 p.K145fs 0.002 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 ZNF543 HGNC ENSG00000178229 80 0 0 52 9 14.7541 SLC20A1 0 genome.wustl.edu 37 2 113416440 113416441 + Frame_Shift_Ins INS - - A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 2 113416440 113416441 - A INS SLC20A1 ENST00000272542 human ensembl 74_37 +1 known frame_shift_ins c.817_818 p.N276fs 1.000:1.000 pfam_Phos_transporter pfam_Phos_transporter - no_errors SLC20A1 HGNC ENSG00000144136 112 0 0 106 29 21.4815 IL37 0 genome.wustl.edu 37 2 113671381 113671382 + Frame_Shift_Ins INS - - C TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 2 113671381 113671382 - C INS IL37 ENST00000263326 human ensembl 74_37 +1 known frame_shift_ins c.95_96 p.L34fs 0.000:0.000 NULL pfam_IL-1,superfamily_Cytokine_IL1-like,smart_IL-1,prints_IL-1,prints_IL-1RA/IL-36 - no_errors IL37 HGNC ENSG00000125571 98 0 0 77 18 18.9474 ACVR2A 0 genome.wustl.edu 37 2 148683686 148683686 + Frame_Shift_Del DEL A A - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 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 127 0 0 63 72 53.3333 ENSG00000237844 0 genome.wustl.edu 37 2 164606328 164606331 + RNA DEL TCCT TCCT - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 TCCT TCCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 2 164606328 164606331 TCCT - DEL ENSG00000237844 ENST00000429636 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000:0.000:0.000 - - - no_errors AC092684.1 Clone_based_vega_gene ENSG00000237844 16 0 0 9 2 18.1818 SCN3A 0 genome.wustl.edu 37 2 165997473 165997474 + Frame_Shift_Ins INS - - G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 2 165997473 165997474 - G INS SCN3A ENST00000283254 human ensembl 74_37 -1 known frame_shift_ins c.1707_1706 p.R570fs 1.000:1.000 pfam_DUF3451 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 36 0 0 48 11 18.6441 ITGA6 0 genome.wustl.edu 37 2 173368931 173368931 + Frame_Shift_Del DEL A A - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 2 173368931 173368931 A - DEL ITGA6 ENST00000264106 human ensembl 74_37 +1 known frame_shift_del c.3344 p.K1117fs 1.000 NULL pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA6 HGNC ENSG00000091409 33 0 0 26 9 25.7143 OSBPL6 0 genome.wustl.edu 37 2 179255915 179255915 + Frame_Shift_Del DEL C C - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 2 179255915 179255915 C - DEL OSBPL6 ENST00000315022 human ensembl 74_37 +1 known frame_shift_del c.2429 p.S812fs 1.000 pfam_Oxysterol-bd pfam_Oxysterol-bd,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL6 HGNC ENSG00000079156 103 0 0 80 26 24.5283 BMPR2 0 genome.wustl.edu 37 2 203420130 203420130 + Frame_Shift_Del DEL A A - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 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 104 0 0 50 59 54.1284 ZDBF2 0 genome.wustl.edu 37 2 207175826 207175826 + Frame_Shift_Del DEL A A - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 2 207175826 207175826 A - DEL ZDBF2 ENST00000374423 human ensembl 74_37 +1 known frame_shift_del c.6574 p.K2193fs 0.000 NULL pfam_Znf_DBF,smart_Znf_DBF - no_errors ZDBF2 HGNC ENSG00000204186 59 0 0 64 23 26.4368 ZNF142 0 genome.wustl.edu 37 2 219508084 219508084 + Frame_Shift_Del DEL C C - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 2 219508084 219508084 C - DEL ZNF142 ENST00000411696 human ensembl 74_37 -1 known frame_shift_del c.3155 p.G1052fs 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF142 HGNC ENSG00000115568 63 0 0 36 7 16.2791 GPR55 0 genome.wustl.edu 37 2 231774722 231774722 + Frame_Shift_Del DEL C C - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 2 231774722 231774722 C - DEL GPR55 ENST00000392039 human ensembl 74_37 -1 known frame_shift_del c.956 p.G319fs 0.047 NULL pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors GPR55 HGNC ENSG00000135898 88 0 0 58 24 29.2683 NCL 0 genome.wustl.edu 37 2 232327984 232327986 + In_Frame_Del DEL GGA GGA - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 GGA GGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 2 232327984 232327986 GGA - DEL NCL ENST00000322723 human ensembl 74_37 -1 known in_frame_del c.62_60 p.P21in_frame_del 0.812:0.819:0.722 NULL pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom - no_errors NCL HGNC ENSG00000115053 131 0 0 130 36 21.6867 ITSN2 0 genome.wustl.edu 37 2 24484599 24484599 + Frame_Shift_Del DEL T T - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 2 24484599 24484599 T - DEL ITSN2 ENST00000355123 human ensembl 74_37 -1 known frame_shift_del c.2368 p.T790fs 0.998 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain 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 51 0 0 33 10 23.2558 RPS27A 0 genome.wustl.edu 37 2 55462017 55462019 + In_Frame_Del DEL GAA GAA - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 GAA GAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 2 55462017 55462019 GAA - DEL RPS27A ENST00000272317 human ensembl 74_37 +1 known in_frame_del c.240_242 p.K83in_frame_del 0.998:1.000:1.000 NULL pfam_Ubiquitin_dom,pfam_Ribosomal_S27a,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup,prints_Ubiquitin - no_errors RPS27A HGNC ENSG00000143947 51 0 0 48 8 14.2857 EIF5B 0 genome.wustl.edu 37 2 99977965 99977965 + Frame_Shift_Del DEL A A - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 2 99977965 99977965 A - DEL EIF5B ENST00000289371 human ensembl 74_37 +1 known frame_shift_del c.601 p.N203fs 1.000 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 92 0 0 57 28 32.9412 NDUFAF5 0 genome.wustl.edu 37 20 13797842 13797842 + Frame_Shift_Del DEL A A - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 20 13797842 13797842 A - DEL NDUFAF5 ENST00000378106 human ensembl 74_37 +1 known frame_shift_del c.1024 p.K343fs 0.026 NULL pfam_Methyltransf_11,pfam_Methyltransf_12,pfam_UbiE/COQ5_MeTrFase,pfam_Put_SAM_MeTrfase - no_errors NDUFAF5 HGNC ENSG00000101247 196 0 0 229 60 20.7612 CD93 0 genome.wustl.edu 37 20 23066469 23066469 + Frame_Shift_Del DEL C C - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 20 23066469 23066469 C - DEL CD93 ENST00000246006 human ensembl 74_37 -1 known frame_shift_del c.361 p.E121fs 0.689 pirsf_CD93/CD141,pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pirsf_CD93/CD141,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_C-type_lectin,superfamily_C-type_lectin_fold,superfamily_MFS_dom_general_subst_transpt,smart_C-type_lectin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_C-type_lectin - no_errors CD93 HGNC ENSG00000125810 11 0 0 10 6 37.5 GINS1 0 genome.wustl.edu 37 20 25422397 25422397 + Frame_Shift_Del DEL A A - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 20 25422397 25422397 A - DEL GINS1 ENST00000262460 human ensembl 74_37 +1 known frame_shift_del c.507 p.N172fs 0.232 NULL NULL - no_errors GINS1 HGNC ENSG00000101003 66 0 0 94 13 12.1495 SUN5 0 genome.wustl.edu 37 20 31577498 31577498 + Frame_Shift_Del DEL T T - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 20 31577498 31577498 T - DEL SUN5 ENST00000356173 human ensembl 74_37 -1 known frame_shift_del c.541 p.M181fs 0.031 NULL pfam_Sad1_UNC_C,superfamily_Galactose-bd-like - no_errors SUN5 HGNC ENSG00000167098 44 0 0 63 23 26.7442 PTGIS 0 genome.wustl.edu 37 20 48127617 48127617 + Frame_Shift_Del DEL C C - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 20 48127617 48127617 C - DEL PTGIS ENST00000244043 human ensembl 74_37 -1 known frame_shift_del c.1306 p.A436fs 0.995 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 - no_errors PTGIS HGNC ENSG00000124212 26 0 0 41 15 26.7857 HRH3 0 genome.wustl.edu 37 20 60794811 60794813 + In_Frame_Del DEL GAA GAA - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 GAA GAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 20 60794811 60794813 GAA - DEL HRH3 ENST00000317393 human ensembl 74_37 -1 known in_frame_del c.216_214 p.F72in_frame_del 1.000:1.000:1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Histamine_H3_rcpt,prints_GPCR_Rhodpsn,prints_Musac_Ach_rcpt - no_errors HRH3 HGNC ENSG00000101180 38 0 0 49 8 14.0351 KRTAP25-1 0 genome.wustl.edu 37 21 31661779 31661780 + Frame_Shift_Ins INS - - AA TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 21 31661779 31661780 - AA INS KRTAP25-1 ENST00000416044 human ensembl 74_37 -1 known frame_shift_ins c.30_29 p.S12fs 0.000:0.000 NULL pfam_KRTAP_PMG - no_errors KRTAP25-1 HGNC ENSG00000232263 9 0 0 4 2 33.3333 BRWD1 0 genome.wustl.edu 37 21 40558989 40558989 + Frame_Shift_Del DEL A A - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 21 40558989 40558989 A - DEL BRWD1 ENST00000333229 human ensembl 74_37 -1 known frame_shift_del c.6926 p.L2309fs 0.001 NULL pfam_WD40_repeat,pfam_Bromodomain,superfamily_WD40_repeat_dom,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors BRWD1 HGNC ENSG00000185658 100 0 0 58 38 39.5833 PCNT 0 genome.wustl.edu 37 21 47858077 47858077 + Frame_Shift_Del DEL A A - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 21 47858077 47858077 A - DEL PCNT ENST00000359568 human ensembl 74_37 +1 known frame_shift_del c.9100 p.M3036fs 0.184 NULL pfam_PACT_domain - no_errors PCNT HGNC ENSG00000160299 36 0 0 30 9 23.0769 P2RX6 0 genome.wustl.edu 37 22 21377597 21377597 + Frame_Shift_Del DEL T T - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 22 21377597 21377597 T - DEL P2RX6 ENST00000413302 human ensembl 74_37 +1 known frame_shift_del c.672 p.F225fs 0.952 pfam_P2X_purnocptor,prints_P2X6_purnocptor,tigrfam_P2X_purnocptor pfam_P2X_purnocptor,prints_P2X6_purnocptor,prints_P2X_purnocptor,tigrfam_P2X_purnocptor - no_errors P2RX6 HGNC ENSG00000099957 132 0 0 82 22 21.1538 MMP11 0 genome.wustl.edu 37 22 24124456 24124456 + Frame_Shift_Del DEL C C - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 22 24124456 24124456 C - DEL MMP11 ENST00000215743 human ensembl 74_37 +1 known frame_shift_del c.1119 p.A375fs 0.965 pirsf_Pept_M10A_Metazoans,pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Hemopexin-like_repeat pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A - no_errors MMP11 HGNC ENSG00000099953 63 0 0 46 21 31.3433 NAGA 0 genome.wustl.edu 37 22 42458950 42458950 + Frame_Shift_Del DEL G G - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 22 42458950 42458950 G - DEL NAGA ENST00000396398 human ensembl 74_37 -1 known frame_shift_del c.838 p.L280fs 1.000 superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_27 pfam_Glyco_hydro_GHD,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_27 - no_errors NAGA HGNC ENSG00000198951 59 0 0 47 10 17.5439 SHANK3 0 genome.wustl.edu 37 22 51117521 51117521 + Frame_Shift_Del DEL G G - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 22 51117521 51117521 G - DEL SHANK3 ENST00000262795 human ensembl 74_37 +1 known frame_shift_del c.675 p.G227fs 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_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 14 0 0 5 4 44.4444 MORC1 0 genome.wustl.edu 37 3 108773613 108773613 + Frame_Shift_Del DEL C C - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 3 108773613 108773613 C - DEL MORC1 ENST00000232603 human ensembl 74_37 -1 known frame_shift_del c.1292 p.G431fs 1.000 NULL pfam_Znf_CW,superfamily_HATPase_ATP-bd,pfscan_Znf_CW - no_errors MORC1 HGNC ENSG00000114487 163 0 0 104 31 22.963 ZBTB20 0 genome.wustl.edu 37 3 114058003 114058003 + Frame_Shift_Del DEL G G - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 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 31 0 0 31 18 36.7347 PPP2R3A 0 genome.wustl.edu 37 3 135721164 135721164 + Frame_Shift_Del DEL A A - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 3 135721164 135721164 A - DEL PPP2R3A ENST00000264977 human ensembl 74_37 +1 known frame_shift_del c.824 p.T276fs 1.000 NULL pfscan_EF_hand_dom - no_errors PPP2R3A HGNC ENSG00000073711 60 0 0 49 20 28.9855 DZIP1L 0 genome.wustl.edu 37 3 137787113 137787113 + Frame_Shift_Del DEL G G - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 3 137787113 137787113 G - DEL DZIP1L ENST00000327532 human ensembl 74_37 -1 known frame_shift_del c.1712 p.P571fs 0.000 NULL pfscan_Znf_C2H2 - no_errors DZIP1L HGNC ENSG00000158163 42 0 0 32 10 23.8095 IGSF10 0 genome.wustl.edu 37 3 151164080 151164081 + Frame_Shift_Ins INS - - T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 3 151164080 151164081 - T INS IGSF10 ENST00000282466 human ensembl 74_37 -1 known frame_shift_ins c.3689_3688 p.S1230fs 0.000:0.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors IGSF10 HGNC ENSG00000152580 150 0 0 76 35 31.5315 IFT80 0 genome.wustl.edu 37 3 160156368 160156368 + Frame_Shift_Del DEL T T - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 3 160156368 160156368 T - DEL IFT80 ENST00000483754 human ensembl 74_37 -1 known frame_shift_del c.604 p.S202fs 0.000 NULL pfam_WD40_repeat,pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_WD40_repeat_dom,smart_Znf_RING,smart_WD40_repeat,pfscan_Znf_B-box,pfscan_Znf_RING,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors RP11-432B6.3 Clone_based_vega_gene ENSG00000248710 77 0 0 59 28 32.1839 SI 0 genome.wustl.edu 37 3 164758862 164758862 + Frame_Shift_Del DEL A A - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 3 164758862 164758862 A - DEL SI ENST00000264382 human ensembl 74_37 -1 known frame_shift_del c.2025 p.F675fs 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 119 0 0 101 38 27.3381 BCHE 0 genome.wustl.edu 37 3 165491219 165491219 + Frame_Shift_Del DEL T T - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 3 165491219 165491219 T - DEL BCHE ENST00000264381 human ensembl 74_37 -1 known frame_shift_del c.1760 p.N587fs 1.000 pfam_AChE_tetra pfam_CarbesteraseB,pfam_AChE_tetra,pfam_AB_hydrolase_3,prints_Cholinesterase - no_errors BCHE HGNC ENSG00000114200 37 0 0 29 15 34.0909 FETUB 0 genome.wustl.edu 37 3 186362544 186362544 + Frame_Shift_Del DEL A A - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 3 186362544 186362544 A - DEL FETUB ENST00000265029 human ensembl 74_37 +1 known frame_shift_del c.429 p.K146fs 0.854 NULL pfam_Prot_inh_cystat,smart_Prot_inh_cystat - no_errors FETUB HGNC ENSG00000090512 110 0 0 79 28 26.1682 MB21D2 0 genome.wustl.edu 37 3 192517004 192517004 + Frame_Shift_Del DEL T T - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 3 192517004 192517004 T - DEL MB21D2 ENST00000392452 human ensembl 74_37 -1 known frame_shift_del c.647 p.N216fs 1.000 NULL pfam_Mab-21_dom - no_errors MB21D2 HGNC ENSG00000180611 72 0 0 86 25 22.5225 ATP13A3 0 genome.wustl.edu 37 3 194167726 194167727 + Frame_Shift_Ins INS - - T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 3 194167726 194167727 - T INS ATP13A3 ENST00000256031 human ensembl 74_37 -1 known frame_shift_ins c.1427_1426 p.I476fs 0.048:0.016 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_ATPase_P-typ_Cation_typ_V,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,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 ATP13A3 HGNC ENSG00000133657 101 0 0 81 23 22.1154 SETD2 0 genome.wustl.edu 37 3 47143009 47143010 + Frame_Shift_Ins INS - - A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 3 47143009 47143010 - A INS SETD2 ENST00000409792 human ensembl 74_37 -1 known frame_shift_ins c.4954_4953 p.T1651fs 1.000:1.000 pfam_SET_dom,smart_SET_dom,pfscan_SET_dom pfam_SRI,pfam_SET_dom,pfam_WW_dom,superfamily_WW_dom,superfamily_Ferritin-like_SF,smart_AWS,smart_SET_dom,smart_Post-SET_dom,smart_WW_dom,pfscan_AWS,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_WW_dom - no_errors SETD2 HGNC ENSG00000181555 262 0 0 201 57 22.093 DOCK3 0 genome.wustl.edu 37 3 51413261 51413261 + Frame_Shift_Del DEL A A - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 3 51413261 51413261 A - DEL DOCK3 ENST00000266037 human ensembl 74_37 +1 known frame_shift_del c.5495 p.G1834fs 1.000 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 68 0 0 76 21 21.6495 TLR9 0 genome.wustl.edu 37 3 52257017 52257017 + Frame_Shift_Del DEL C C - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 3 52257017 52257017 C - DEL TLR9 ENST00000597542 human ensembl 74_37 -1 known frame_shift_del c.1387 p.E463fs 0.133 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_TIR_dom,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR9 HGNC ENSG00000239732 87 0 0 62 23 27.0588 TNNC1 0 genome.wustl.edu 37 3 52486500 52486501 + Frame_Shift_Ins INS - - T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 3 52486500 52486501 - T INS TNNC1 ENST00000232975 human ensembl 74_37 -1 known frame_shift_ins c.54_53 p.N18fs 1.000:1.000 NULL pfam_EF_hand_dom,smart_EF_hand_dom,prints_Recoverin,pfscan_EF_hand_dom - no_errors TNNC1 HGNC ENSG00000114854 28 0 0 26 10 27.7778 APPL1 0 genome.wustl.edu 37 3 57276921 57276921 + Frame_Shift_Del DEL A A - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 3 57276921 57276921 A - DEL APPL1 ENST00000288266 human ensembl 74_37 +1 known frame_shift_del c.453 p.R154fs 0.881 NULL pfam_PTB/PI_dom,smart_Pleckstrin_homology,smart_PTB/PI_dom,pfscan_Pleckstrin_homology,pfscan_PTB/PI_dom - no_errors APPL1 HGNC ENSG00000157500 56 0 0 56 14 20 MAGI1 0 genome.wustl.edu 37 3 65342221 65342221 + Frame_Shift_Del DEL G G - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 3 65342221 65342221 G - DEL MAGI1 ENST00000402939 human ensembl 74_37 -1 known frame_shift_del c.4221 p.E1408fs 0.063 NULL pfam_PDZ,pfam_WW_dom,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_PDZ,smart_GK/Ca_channel_bsu,smart_WW_dom,pfscan_PDZ,pfscan_WW_dom,pfscan_Guanylate_kin-like - no_errors MAGI1 HGNC ENSG00000151276 74 0 0 67 27 28.7234 ADH1A 0 genome.wustl.edu 37 4 100205902 100205903 + Frame_Shift_Ins INS - - T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 4 100205902 100205903 - T INS ADH1A ENST00000209668 human ensembl 74_37 -1 known frame_shift_ins c.318_317 p.N106fs 0.929:0.801 pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER pfam_ADH_GroES-like,pfam_ADH_C,superfamily_GroES-like,smart_PKS_ER - no_errors ADH1A HGNC ENSG00000187758 108 0 0 56 20 26.3158 NFKB1 0 genome.wustl.edu 37 4 103517339 103517339 + Frame_Shift_Del DEL A A - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 4 103517339 103517339 A - DEL NFKB1 ENST00000226574 human ensembl 74_37 +1 known frame_shift_del c.1345 p.S450fs 0.000 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 NFKB1 HGNC ENSG00000109320 120 0 0 94 30 24.1935 LARP1B 0 genome.wustl.edu 37 4 129127627 129127627 + Frame_Shift_Del DEL A A - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 4 129127627 129127627 A - DEL LARP1B ENST00000326639 human ensembl 74_37 +1 known frame_shift_del c.2354 p.K787fs 1.000 smart_DM15 pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,smart_DM15,pfscan_Lupus_La_RNA-bd - no_errors LARP1B HGNC ENSG00000138709 67 0 0 71 31 30.3922 CLGN 0 genome.wustl.edu 37 4 141313502 141313502 + Frame_Shift_Del DEL T T - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 4 141313502 141313502 T - DEL CLGN ENST00000325617 human ensembl 74_37 -1 known frame_shift_del c.1522 p.T508fs 0.000 NULL pfam_Calret/calnex,superfamily_ConA-like_lec_gl_sf,superfamily_Calreticulin/calnexin_P_dom,prints_Calret/calnex - no_errors CLGN HGNC ENSG00000153132 98 0 0 109 15 12.0968 CLCN3 0 genome.wustl.edu 37 4 170613460 170613460 + Frame_Shift_Del DEL A A - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 4 170613460 170613460 A - DEL CLCN3 ENST00000347613 human ensembl 74_37 +1 known frame_shift_del c.925 p.R311fs 1.000 pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,smart_CBS_dom,prints_Cl-channel_volt-gated,prints_Cl_channel-3 - no_errors CLCN3 HGNC ENSG00000109572 116 0 0 90 40 30.7692 GPM6A 0 genome.wustl.edu 37 4 176556153 176556155 + In_Frame_Del DEL CGG CGG - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 CGG CGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 4 176556153 176556155 CGG - DEL GPM6A ENST00000280187 human ensembl 74_37 -1 known in_frame_del c.740_738 p.CR246in_frame_delW 1.000:1.000:1.000 pfam_Myelin_PLP pfam_Myelin_PLP,smart_Myelin_PLP,prints_Myelin_PLP - no_errors GPM6A HGNC ENSG00000150625 54 0 0 44 15 25.4237 AGA 0 genome.wustl.edu 37 4 178354444 178354444 + Frame_Shift_Del DEL T T - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 4 178354444 178354444 T - DEL AGA ENST00000264595 human ensembl 74_37 -1 known frame_shift_del c.864 p.V289fs 1.000 pfam_Peptidase_T2 pfam_Peptidase_T2 - no_errors AGA HGNC ENSG00000038002 150 0 0 184 10 5.15464 ATP10D 0 genome.wustl.edu 37 4 47559698 47559698 + Frame_Shift_Del DEL G G - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 4 47559698 47559698 G - DEL ATP10D ENST00000273859 human ensembl 74_37 +1 known frame_shift_del c.1842 p.L617fs 0.439 superfamily_HAD-like_dom 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 ATP10D HGNC ENSG00000145246 59 0 0 45 20 30.7692 KIAA1211 0 genome.wustl.edu 37 4 57181941 57181941 + Frame_Shift_Del DEL C C - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 4 57181941 57181941 C - DEL KIAA1211 ENST00000504228 human ensembl 74_37 +1 known frame_shift_del c.2273 p.Q760fs 0.000 NULL NULL - no_errors KIAA1211 HGNC ENSG00000109265 49 0 0 48 8 14.2857 WDFY3 0 genome.wustl.edu 37 4 85716121 85716121 + Frame_Shift_Del DEL A A - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 4 85716121 85716121 A - DEL WDFY3 ENST00000295888 human ensembl 74_37 -1 known frame_shift_del c.3179 p.L1060fs 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 30 0 0 37 14 27.451 DMP1 0 genome.wustl.edu 37 4 88584031 88584031 + Frame_Shift_Del DEL C C - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 4 88584031 88584031 C - DEL DMP1 ENST00000339673 human ensembl 74_37 +1 known frame_shift_del c.1101 p.D369fs 0.993 pfam_DMP1 pfam_DMP1 - no_errors DMP1 HGNC ENSG00000152592 210 0 0 146 80 35.3982 ATOH1 0 genome.wustl.edu 37 4 94750382 94750382 + Frame_Shift_Del DEL G G - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 4 94750382 94750382 G - DEL ATOH1 ENST00000306011 human ensembl 74_37 +1 known frame_shift_del c.305 p.E104fs 0.113 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors ATOH1 HGNC ENSG00000172238 15 0 0 11 4 26.6667 SLCO6A1 0 genome.wustl.edu 37 5 101748695 101748695 + Frame_Shift_Del DEL T T - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 5 101748695 101748695 T - DEL SLCO6A1 ENST00000379807 human ensembl 74_37 -1 known frame_shift_del c.1625 p.K542fs 0.982 pfam_OA_transporter,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter - no_errors SLCO6A1 HGNC ENSG00000205359 9 0 0 7 4 36.3636 PPIP5K2 0 genome.wustl.edu 37 5 102537309 102537309 + Frame_Shift_Del DEL A A - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 5 102537309 102537309 A - DEL PPIP5K2 ENST00000358359 human ensembl 74_37 +1 known frame_shift_del c.3706 p.N1238fs 0.999 NULL pfam_His_Pase_superF_clade-2 - no_errors PPIP5K2 HGNC ENSG00000145725 46 0 0 38 17 30.9091 DNAH5 0 genome.wustl.edu 37 5 13701426 13701426 + Frame_Shift_Del DEL A A - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 5 13701426 13701426 A - DEL DNAH5 ENST00000265104 human ensembl 74_37 -1 known frame_shift_del c.13458 p.F4486fs 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,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 183 0 0 114 47 29.1925 PPP2R2B 0 genome.wustl.edu 37 5 145969652 145969652 + Frame_Shift_Del DEL C C - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 5 145969652 145969652 C - DEL PPP2R2B ENST00000394414 human ensembl 74_37 -1 known frame_shift_del c.1388 p.G463fs 1.000 superfamily_WD40_repeat_dom,pirsf_PP2A_PR55 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55 - no_errors PPP2R2B HGNC ENSG00000156475 133 0 0 117 31 20.9459 KIF4B 0 genome.wustl.edu 37 5 154395578 154395580 + In_Frame_Del DEL AAC AAC - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 AAC AAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 5 154395578 154395580 AAC - DEL KIF4B ENST00000435029 human ensembl 74_37 +1 known in_frame_del c.2159_2161 p.Q721in_frame_del 0.999:0.986:0.990 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF4B HGNC ENSG00000226650 122 0 0 90 27 23.0769 DRD1 0 genome.wustl.edu 37 5 174869692 174869692 + Frame_Shift_Del DEL G G - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 5 174869692 174869692 G - DEL DRD1 ENST00000393752 human ensembl 74_37 -1 known frame_shift_del c.411 p.K138fs 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ADR_fam pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Dopamine_D1_rcpt,prints_GPCR_Rhodpsn,prints_Dopamine_rcpt,prints_ADR_fam - no_errors DRD1 HGNC ENSG00000184845 125 0 0 79 32 28.8288 HNRNPAB 0 genome.wustl.edu 37 5 177633781 177633781 + Frame_Shift_Del DEL A A - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 5 177633781 177633781 A - DEL HNRNPAB ENST00000358344 human ensembl 74_37 +1 known frame_shift_del c.427 p.K144fs 1.000 pfscan_RRM_dom pfam_RRM_dom,pfam_CARG-binding_factor_N,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPAB HGNC ENSG00000197451 121 0 0 95 39 29.1045 TBCA 0 genome.wustl.edu 37 5 77004142 77004142 + Frame_Shift_Del DEL T T - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 5 77004142 77004142 T - DEL TBCA ENST00000380377 human ensembl 74_37 -1 known frame_shift_del c.84 p.E29fs 1.000 pfam_CofA_tubulin-bd,superfamily_CofA_tubulin-bd pfam_CofA_tubulin-bd,superfamily_CofA_tubulin-bd - no_errors TBCA HGNC ENSG00000171530 49 0 0 57 16 21.9178 FAM151B 0 genome.wustl.edu 37 5 79837571 79837571 + Frame_Shift_Del DEL A A - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 5 79837571 79837571 A - DEL FAM151B ENST00000282226 human ensembl 74_37 +1 known frame_shift_del c.751 p.K252fs 0.967 pfam_DUF2181 pfam_DUF2181 - no_errors FAM151B HGNC ENSG00000152380 40 0 0 28 15 34.8837 GPR98 0 genome.wustl.edu 37 5 89923350 89923350 + Frame_Shift_Del DEL T T - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 5 89923350 89923350 T - DEL GPR98 ENST00000405460 human ensembl 74_37 +1 known frame_shift_del c.995 p.P334fs 0.993 NULL pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC ENSG00000164199 115 0 0 85 51 37.5 WISP3 0 genome.wustl.edu 37 6 112389434 112389434 + Frame_Shift_Del DEL A A - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 6 112389434 112389434 A - DEL WISP3 ENST00000361714 human ensembl 74_37 +1 known frame_shift_del c.670 p.K226fs 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 48 0 0 32 25 43.8596 ECT2L 0 genome.wustl.edu 37 6 139135710 139135710 + Frame_Shift_Del DEL T T - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 6 139135710 139135710 T - DEL ECT2L ENST00000367682 human ensembl 74_37 +1 known frame_shift_del c.149 p.L52fs 0.260 NULL pfam_DH-domain,pfam_F-box_dom,superfamily_DH-domain,superfamily_F-box_dom,smart_DH-domain,pfscan_DH-domain - no_errors ECT2L HGNC ENSG00000203734 41 0 0 19 9 32.1429 FBXO30 0 genome.wustl.edu 37 6 146126435 146126435 + Frame_Shift_Del DEL T T - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 6 146126435 146126435 T - DEL FBXO30 ENST00000237281 human ensembl 74_37 -1 known frame_shift_del c.1107 p.V370fs 1.000 NULL pfam_F-box_dom,superfamily_F-box_dom,superfamily_TRAF-like,pfscan_F-box_dom,pfscan_Znf_TRAF - no_errors FBXO30 HGNC ENSG00000118496 180 0 0 109 48 30.5732 SYNE1 0 genome.wustl.edu 37 6 152552704 152552705 + Splice_Site INS - - A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 6 152552704 152552705 - A INS SYNE1 ENST00000265368 human ensembl 74_37 -1 known splice_site_ins c.20863-3_20863-2 e112-2 1.000:0.002 - - - no_errors SYNE1 HGNC ENSG00000131018 35 0 0 29 3 9.375 ARID1B 0 genome.wustl.edu 37 6 157405953 157405954 + Frame_Shift_Ins INS - - G TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 6 157405953 157405954 - G INS ARID1B ENST00000367148 human ensembl 74_37 +1 known frame_shift_ins c.2156_2157 p.P723fs 0.992:0.000 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 ARID1B HGNC ENSG00000049618 76 0 0 49 6 10.9091 QKI 0 genome.wustl.edu 37 6 163899920 163899920 + Frame_Shift_Del DEL A A - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 6 163899920 163899920 A - DEL QKI ENST00000361752 human ensembl 74_37 +1 known frame_shift_del c.394 p.K134fs 1.000 smart_KH_dom pfam_KH_dom_type_1,smart_KH_dom - no_errors QKI HGNC ENSG00000112531 143 0 0 102 31 23.3083 OR2J1 0 genome.wustl.edu 37 6 29068729 29068729 + Frame_Shift_Del DEL A A - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 6 29068729 29068729 A - DEL OR2J1 ENST00000377171 human ensembl 74_37 +1 known frame_shift_del c.10 p.N6fs 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR2J1 HGNC ENSG00000204702 49 0 0 22 23 51.1111 LINC00243 0 genome.wustl.edu 37 6 30781189 30781190 + RNA INS - - GT TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 6 30781189 30781190 - GT INS LINC00243 ENST00000399196 human ensembl 74_37 -1 known rna NULL NULL 0.002:0.000 - - - no_errors LINC00243 HGNC ENSG00000214894 9 0 0 7 2 22.2222 UNC5CL 0 genome.wustl.edu 37 6 41001794 41001795 + Frame_Shift_Ins INS - - C TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 6 41001794 41001795 - C INS UNC5CL ENST00000244565 human ensembl 74_37 -1 known frame_shift_ins c.512_511 p.A171fs 1.000:1.000 pfam_ZU5,smart_ZU5,pfscan_ZU5 pfam_ZU5,pfam_Death_domain,superfamily_DEATH-like_dom,smart_ZU5,smart_Death_domain,pfscan_Death_domain,pfscan_ZU5 - no_errors UNC5CL HGNC ENSG00000124602 26 0 0 22 6 21.4286 MRPL2 0 genome.wustl.edu 37 6 43022057 43022057 + Frame_Shift_Del DEL G G - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 6 43022057 43022057 G - DEL MRPL2 ENST00000388752 human ensembl 74_37 -1 known frame_shift_del c.873 p.M292fs 0.606 superfamily_Translation_prot_SH3-like pfam_Ribosomal_L2_C,pfam_Rbsml_prot_L2_RNA-bd_dom,superfamily_Translation_prot_SH3-like,superfamily_NA-bd_OB-fold - no_errors MRPL2 HGNC ENSG00000112651 84 0 0 56 16 22.2222 MUT 0 genome.wustl.edu 37 6 49427150 49427151 + Frame_Shift_Ins INS - - A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 6 49427150 49427151 - A INS MUT ENST00000274813 human ensembl 74_37 -1 known frame_shift_ins c.30_29 p.L10fs 0.000:0.001 NULL pfam_MeMalonylCoA_mutase_a/b_cat,pfam_Cobalamin-bd,superfamily_Cbl-dep_enz_cat,superfamily_Cobalamin-bd,tigrfam_MMCoA_mutase_a_cat,tigrfam_Acid_CoA_mut_C - no_errors MUT HGNC ENSG00000146085 69 0 0 54 16 22.8571 TTK 0 genome.wustl.edu 37 6 80751910 80751910 + Frame_Shift_Del DEL A A - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 6 80751910 80751910 A - DEL TTK ENST00000369798 human ensembl 74_37 +1 known frame_shift_del c.2565 p.K857fs 0.011 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 TTK HGNC ENSG00000112742 45 0 0 56 18 24.3243 CYB5R4 0 genome.wustl.edu 37 6 84634231 84634231 + Frame_Shift_Del DEL A A - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 6 84634231 84634231 A - DEL CYB5R4 ENST00000369681 human ensembl 74_37 +1 known frame_shift_del c.734 p.E248fs 0.868 superfamily_HSP20-like_chaperone,pfscan_CS_dom 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 64 0 0 52 26 33.3333 MDN1 0 genome.wustl.edu 37 6 90417112 90417115 + Frame_Shift_Del DEL CTCT CTCT - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 CTCT CTCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 6 90417112 90417115 CTCT - DEL MDN1 ENST00000369393 human ensembl 74_37 -1 known frame_shift_del c.7982_7979 p.E2660fs 1.000:1.000:0.992:0.996 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 79 0 0 44 16 26.6667 SRRT 0 genome.wustl.edu 37 7 100479332 100479332 + Frame_Shift_Del DEL G G - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 7 100479332 100479332 G - DEL SRRT ENST00000388793 human ensembl 74_37 +1 known frame_shift_del c.304 p.G104fs 1.000 NULL pfam_Arsenite-R_2,pfam_DUF3546 - no_errors SRRT HGNC ENSG00000087087 52 0 0 29 11 27.5 RNF148 0 genome.wustl.edu 37 7 122341965 122341966 + Frame_Shift_Ins INS - - A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 7 122341965 122341966 - A INS RNF148 ENST00000434824 human ensembl 74_37 -1 known frame_shift_ins c.840_839 p.H281fs 1.000:1.000 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF148 HGNC ENSG00000235631 112 0 0 74 23 23.7113 UBN2 0 genome.wustl.edu 37 7 138968642 138968642 + Frame_Shift_Del DEL C C - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 7 138968642 138968642 C - DEL UBN2 ENST00000473989 human ensembl 74_37 +1 known frame_shift_del c.2991 p.L999fs 0.981 NULL NULL - no_errors UBN2 HGNC ENSG00000157741 99 0 0 74 19 20.4301 TAS2R38 0 genome.wustl.edu 37 7 141673000 141673001 + Frame_Shift_Ins INS - - A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 7 141673000 141673001 - A INS TAS2R38 ENST00000547270 human ensembl 74_37 -1 known frame_shift_ins c.490_489 p.S163fs 0.000:0.000 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R38 HGNC ENSG00000257138 93 0 0 45 17 27.4194 ATG9B 0 genome.wustl.edu 37 7 150721484 150721484 + Frame_Shift_Del DEL C C - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 7 150721484 150721484 C - DEL ATG9B ENST00000377974 human ensembl 74_37 -1 known frame_shift_del c.27 p.R10fs 0.511 NULL pfam_Autophagy-rel_prot_9 - no_errors ATG9B HGNC ENSG00000181652 10 0 0 4 2 33.3333 SEPT7P2 0 genome.wustl.edu 37 7 45798706 45798706 + RNA DEL G G - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 7 45798706 45798706 G - DEL SEPT7P2 ENST00000428414 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors SEPT7P2 HGNC ENSG00000214765 141 0 0 121 38 23.8994 STAG3L4 0 genome.wustl.edu 37 7 66785165 66785166 + RNA INS - - A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 7 66785165 66785166 - A INS STAG3L4 ENST00000416602 human ensembl 74_37 +1 known rna NULL NULL 0.030:0.062 - - - no_errors STAG3L4 HGNC ENSG00000106610 45 0 0 44 11 20 ADAM28 0 genome.wustl.edu 37 8 24167473 24167473 + Frame_Shift_Del DEL A A - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 8 24167473 24167473 A - DEL ADAM28 ENST00000265769 human ensembl 74_37 +1 known frame_shift_del c.217 p.N75fs 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 55 0 0 66 14 17.5 MOS 0 genome.wustl.edu 37 8 57025892 57025893 + Frame_Shift_Ins INS - - T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 8 57025892 57025893 - T INS MOS ENST00000311923 human ensembl 74_37 -1 known frame_shift_ins c.650_649 p.I217fs 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_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 MOS HGNC ENSG00000172680 68 0 0 55 16 22.5352 KIAA1429 0 genome.wustl.edu 37 8 95531563 95531563 + Frame_Shift_Del DEL A A - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 8 95531563 95531563 A - DEL KIAA1429 ENST00000297591 human ensembl 74_37 -1 known frame_shift_del c.2163 p.F721fs 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors KIAA1429 HGNC ENSG00000164944 68 0 0 56 24 30 TEX10 0 genome.wustl.edu 37 9 103066107 103066108 + Frame_Shift_Ins INS - - C TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 9 103066107 103066108 - C INS TEX10 ENST00000374902 human ensembl 74_37 -1 known frame_shift_ins c.2483_2482 p.V828fs 0.191:0.137 NULL pfam_IPI1/TEX10,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors TEX10 HGNC ENSG00000136891 52 0 0 46 6 11.5385 SMC2 0 genome.wustl.edu 37 9 106885501 106885501 + Frame_Shift_Del DEL A A - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 9 106885501 106885501 A - DEL SMC2 ENST00000286398 human ensembl 74_37 +1 known frame_shift_del c.2245 p.T751fs 0.998 superfamily_P-loop_NTPase pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,smart_SMC_hinge - no_errors SMC2 HGNC ENSG00000136824 77 0 0 68 29 29.8969 C9orf114 0 genome.wustl.edu 37 9 131588302 131588302 + Frame_Shift_Del DEL T T - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 9 131588302 131588302 T - DEL C9orf114 ENST00000361256 human ensembl 74_37 -1 known frame_shift_del c.638 p.K213fs 1.000 pfam_Put_MeTrfase,superfamily_NA-bd_OB-fold pfam_Put_MeTrfase,superfamily_NA-bd_OB-fold - no_errors C9orf114 HGNC ENSG00000198917 76 0 0 56 33 37.0787 TUBB4B 0 genome.wustl.edu 37 9 140137961 140137963 + In_Frame_Del DEL GAG GAG - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 9 140137961 140137963 GAG - DEL TUBB4B ENST00000340384 human ensembl 74_37 +1 known in_frame_del c.1291_1293 p.E433in_frame_del 1.000:1.000:1.000 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_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin - no_errors TUBB4B HGNC ENSG00000188229 146 0 0 114 24 17.3913 ERMP1 0 genome.wustl.edu 37 9 5801292 5801292 + Frame_Shift_Del DEL T T - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 9 5801292 5801292 T - DEL ERMP1 ENST00000339450 human ensembl 74_37 -1 known frame_shift_del c.1951 p.T651fs 0.994 NULL pfam_Peptidase_M28,pfam_Peptidase_M20 - no_errors ERMP1 HGNC ENSG00000099219 65 0 0 59 17 22.3684 VPS13A 0 genome.wustl.edu 37 9 79955199 79955199 + Splice_Site DEL G G - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 9 79955199 79955199 G - DEL VPS13A ENST00000360280 human ensembl 74_37 +1 known splice_site_del c.6879+1 e49+1 1.000 - - - no_errors VPS13A HGNC ENSG00000197969 85 0 0 58 29 33.3333 TLE1 0 genome.wustl.edu 37 9 84225192 84225192 + Frame_Shift_Del DEL G G - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 9 84225192 84225192 G - DEL TLE1 ENST00000376499 human ensembl 74_37 -1 known frame_shift_del c.1274 p.P425fs 1.000 NULL 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 35 0 0 32 8 20 ZNF484 0 genome.wustl.edu 37 9 95609713 95609713 + Frame_Shift_Del DEL T T - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd 9 95609713 95609713 T - DEL ZNF484 ENST00000395506 human ensembl 74_37 -1 known frame_shift_del c.1362 p.K454fs 0.935 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 ZNF484 HGNC ENSG00000127081 67 0 0 36 16 30.7692 TMSB15B 0 genome.wustl.edu 37 X 103219168 103219169 + Frame_Shift_Ins INS - - A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd X 103219168 103219169 - A INS TMSB15B ENST00000419165 human ensembl 74_37 +1 known frame_shift_ins c.73_74 p.N27fs 1.000:1.000 pfam_Thymosin_b4,smart_Thymosin_b4,pirsf_Thymosin_b4_metazoa pfam_Thymosin_b4,smart_Thymosin_b4,pirsf_Thymosin_b4_metazoa - no_errors TMSB15B HGNC ENSG00000158427 126 0 0 69 29 29.5918 BCORL1 0 genome.wustl.edu 37 X 129147663 129147664 + Frame_Shift_Ins INS - - TCAG TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd X 129147663 129147664 - TCAG INS BCORL1 ENST00000303743 human ensembl 74_37 +1 known frame_shift_ins c.915_916 p.P307fs 0.013:0.035 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 32 0 0 22 6 21.4286 CCDC160 0 genome.wustl.edu 37 X 133378875 133378875 + Frame_Shift_Del DEL T T - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd X 133378875 133378875 T - DEL CCDC160 ENST00000370809 human ensembl 74_37 +1 known frame_shift_del c.45 p.F17fs 0.398 NULL NULL - no_errors CCDC160 HGNC ENSG00000203952 22 0 0 9 9 50 HCFC1 0 genome.wustl.edu 37 X 153229688 153229689 + Frame_Shift_Ins INS - - T TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd X 153229688 153229689 - T INS HCFC1 ENST00000310441 human ensembl 74_37 -1 known frame_shift_ins c.390_389 p.N130fs 0.523:0.999 NULL pfam_Kelch_2,pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3 - no_errors HCFC1 HGNC ENSG00000172534 136 0 0 112 7 5.88235 F8 0 genome.wustl.edu 37 X 154133263 154133263 + Frame_Shift_Del DEL G G - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd X 154133263 154133263 G - DEL F8 ENST00000360256 human ensembl 74_37 -1 known frame_shift_del c.5409 p.F1804fs 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 131 0 0 128 10 7.24638 POLA1 0 genome.wustl.edu 37 X 24830852 24830853 + Frame_Shift_Ins INS - - A TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd X 24830852 24830853 - A INS POLA1 ENST00000379068 human ensembl 74_37 +1 known frame_shift_ins c.3168_3169 p.K1059fs 1.000:1.000 pfam_DNA-dir_DNA_pol_B_multi_dom,tigrfam_DNA-dir_DNA_pol_B_pol2 pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_Znf_DNA-dir_DNA_pol_B_alpha,pfam_DNA_pol_a_cat_su_N,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 POLA1 HGNC ENSG00000101868 111 0 0 76 34 30.9091 CFP 0 genome.wustl.edu 37 X 47489004 47489004 + Frame_Shift_Del DEL C C - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd X 47489004 47489004 C - DEL CFP ENST00000247153 human ensembl 74_37 -1 known frame_shift_del c.146 p.G49fs 0.000 NULL pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors CFP HGNC ENSG00000126759 13 0 0 4 2 33.3333 XIST 0 genome.wustl.edu 37 X 73049071 73049071 + RNA DEL A A - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd X 73049071 73049071 A - DEL XIST ENST00000433732 human ensembl 74_37 -1 known rna NULL NULL 0.135 - - - no_errors XIST HGNC ENSG00000229807 43 0 0 15 11 42.3077 SHROOM2 0 genome.wustl.edu 37 X 9907303 9907303 + Frame_Shift_Del DEL C C - TCGA-BR-4280-01A-01D-1126-08 TCGA-BR-4280-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41b158f4-026e-4f40-9175-f3e5c0b1f8ce 3fea064a-3d4a-4a19-a445-de5e616a5edd X 9907303 9907303 C - DEL SHROOM2 ENST00000380913 human ensembl 74_37 +1 known frame_shift_del c.4208 p.K1405fs 1.000 pfam_ASD2 pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM2 HGNC ENSG00000146950 17 0 0 19 4 17.3913