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 FLG2 0 genome.wustl.edu 37 1 152325465 152325465 + Silent SNP G G A TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 1 152325465 152325465 G A SNP FLG2 ENST00000388718 human ensembl 74_37 -1 known silent c.4797 p.Y1599 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG2 HGNC ENSG00000143520 297 2 0.668896 146 33 18.4358 RASAL2 0 genome.wustl.edu 37 1 178426964 178426964 + Missense_Mutation SNP G G A TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 1 178426964 178426964 G A SNP RASAL2 ENST00000367649 human ensembl 74_37 +1 known missense c.2537 p.R846Q 1.000 pfam_DUF3498 pfam_DUF3498,pfam_RasGAP,pfam_Pleckstrin_homology,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,superfamily_PP1_inhibitor,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP - no_errors RASAL2 HGNC ENSG00000075391 94 0 0 55 14 20.2899 TACC2 0 genome.wustl.edu 37 10 123976316 123976316 + Missense_Mutation SNP G G A TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 10 123976316 123976316 G A SNP TACC2 ENST00000334433 human ensembl 74_37 +1 known missense c.7519 p.E2507K 1.000 NULL pfam_TACC - no_errors TACC2 HGNC ENSG00000138162 106 0 0 61 14 18.6667 DMBT1 0 genome.wustl.edu 37 10 124402642 124402642 + Missense_Mutation SNP G G A TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 10 124402642 124402642 G A SNP DMBT1 ENST00000338354 human ensembl 74_37 +1 known missense c.6970 p.V2324M 0.000 pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom pfam_SRCR,pfam_CUB_dom,pfam_ZP_dom,superfamily_Srcr_rcpt-rel,superfamily_CUB_dom,smart_Srcr_rcpt-rel,smart_CUB_dom,smart_ZP_dom,pfscan_CUB_dom,pfscan_SRCR,pfscan_ZP_dom,prints_SRCR - no_errors DMBT1 HGNC ENSG00000187908 117 0 0 55 10 15.3846 GRID1 0 genome.wustl.edu 37 10 88123850 88123850 + Missense_Mutation SNP G G A TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 10 88123850 88123850 G A SNP GRID1 ENST00000327946 human ensembl 74_37 -1 known missense c.83 p.A28V 1.000 superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRID1 HGNC ENSG00000182771 57 0 0 34 4 10.5263 DCDC1 0 genome.wustl.edu 37 11 31115643 31115643 + Missense_Mutation SNP G G A TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 11 31115643 31115643 G A SNP DCDC1 ENST00000597505 human ensembl 74_37 -1 putative missense c.2072 p.A691V 0.000 superfamily_Ricin_B_lectin pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Doublecortin_dom,pfscan_Doublecortin_dom,pfscan_Ricin_B_lectin - no_errors DCDC1 HGNC ENSG00000170959 95 0 0 75 16 17.5824 OR5L1 0 genome.wustl.edu 37 11 55579431 55579431 + Silent SNP T T C TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 11 55579431 55579431 T C SNP OR5L1 ENST00000333973 human ensembl 74_37 +1 known silent c.489 p.A163 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5L1 HGNC ENSG00000186117 218 0 0 126 34 21.25 RSF1 0 genome.wustl.edu 37 11 77386245 77386245 + Missense_Mutation SNP G G A TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 11 77386245 77386245 G A SNP RSF1 ENST00000308488 human ensembl 74_37 -1 known missense c.3398 p.P1133L 0.981 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors RSF1 HGNC ENSG00000048649 51 0 0 31 8 20.5128 TPCN1 0 genome.wustl.edu 37 12 113730792 113730792 + Missense_Mutation SNP G G A TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 12 113730792 113730792 G A SNP TPCN1 ENST00000541517 human ensembl 74_37 +1 known missense c.2383 p.V795I 0.001 NULL pfam_Ion_trans_dom - no_errors TPCN1 HGNC ENSG00000186815 63 0 0 40 11 21.5686 KCNA1 0 genome.wustl.edu 37 12 5021267 5021267 + Silent SNP C C T TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 12 5021267 5021267 C T SNP KCNA1 ENST00000382545 human ensembl 74_37 +1 known silent c.723 p.F241 1.000 pfam_Ion_trans_dom,prints_K_chnl pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv1.1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv1.3 - no_errors KCNA1 HGNC ENSG00000111262 90 0 0 44 12 21.4286 PEX5 0 genome.wustl.edu 37 12 7361645 7361645 + Missense_Mutation SNP G G A TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 12 7361645 7361645 G A SNP PEX5 ENST00000434354 human ensembl 74_37 +1 known missense c.1484 p.R495Q 0.819 pfscan_TPR-contain_dom pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors PEX5 HGNC ENSG00000139197 116 0 0 49 19 27.9412 PLXNC1 0 genome.wustl.edu 37 12 94654549 94654549 + Missense_Mutation SNP G G A TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 12 94654549 94654549 G A SNP PLXNC1 ENST00000258526 human ensembl 74_37 +1 known missense c.3383 p.R1128H 1.000 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Plexin_repeat,pfam_IPT,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Plexin-like_fold,superfamily_Ig_E-set,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNC1 HGNC ENSG00000136040 63 0 0 49 9 15.5172 NBEA 0 genome.wustl.edu 37 13 36241608 36241608 + Silent SNP C C T TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 13 36241608 36241608 C T SNP NBEA ENST00000310336 human ensembl 74_37 +1 known silent c.8499 p.S2833 0.907 superfamily_WD40_repeat_dom 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,pfscan_WD40_repeat_dom - no_errors NBEA HGNC ENSG00000172915 164 0 0 122 25 17.0068 MYCBP2 0 genome.wustl.edu 37 13 77780921 77780921 + Silent SNP C C T TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 13 77780921 77780921 C T SNP MYCBP2 ENST00000407578 human ensembl 74_37 -1 known silent c.3456 p.A1152 0.118 superfamily_ARM-type_fold pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_RCC1/BLIP-II,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors MYCBP2 HGNC ENSG00000005810 39 0 0 29 7 19.4444 AHNAK2 0 genome.wustl.edu 37 14 105418481 105418481 + Missense_Mutation SNP C C T TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 14 105418481 105418481 C T SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known missense c.3307 p.V1103I 0.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 238 0 0 117 33 22 ATG14 0 genome.wustl.edu 37 14 55864146 55864146 + Silent SNP G G A TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 14 55864146 55864146 G A SNP ATG14 ENST00000247178 human ensembl 74_37 -1 known silent c.228 p.I76 0.923 NULL pfam_UV_resistance/autophagy_Atg14 - no_errors ATG14 HGNC ENSG00000126775 49 0 0 33 10 23.2558 NDN 0 genome.wustl.edu 37 15 23931922 23931922 + Missense_Mutation SNP G G C TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 15 23931922 23931922 G C SNP NDN ENST00000331837 human ensembl 74_37 -1 known missense c.443 p.A148G 0.698 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors NDN HGNC ENSG00000182636 32 0 0 32 4 11.1111 UNC45A 0 genome.wustl.edu 37 15 91491480 91491480 + Silent SNP G G A TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 15 91491480 91491480 G A SNP UNC45A ENST00000418476 human ensembl 74_37 +1 known silent c.1704 p.A568 0.990 superfamily_ARM-type_fold pfam_UNC-45/Ring3,superfamily_ARM-type_fold,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors UNC45A HGNC ENSG00000140553 100 1 0.990099 53 14 20.8955 HS3ST2 0 genome.wustl.edu 37 16 22926408 22926408 + Missense_Mutation SNP G G A TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 16 22926408 22926408 G A SNP HS3ST2 ENST00000261374 human ensembl 74_37 +1 known missense c.629 p.R210H 0.908 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors HS3ST2 HGNC ENSG00000122254 118 0 0 92 15 14.0187 SALL1 0 genome.wustl.edu 37 16 51174297 51174297 + Silent SNP G G A TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 16 51174297 51174297 G A SNP SALL1 ENST00000251020 human ensembl 74_37 -1 known silent c.1836 p.A612 0.013 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL1 HGNC ENSG00000103449 41 0 0 17 5 22.7273 CDH1 0 genome.wustl.edu 37 16 68842699 68842699 + Missense_Mutation SNP G G A TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 16 68842699 68842699 G A SNP CDH1 ENST00000261769 human ensembl 74_37 +1 known missense c.635 p.G212E 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH1 HGNC ENSG00000039068 73 0 0 39 8 17.0213 VAT1L 0 genome.wustl.edu 37 16 77918562 77918562 + Missense_Mutation SNP G G A TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 16 77918562 77918562 G A SNP VAT1L ENST00000302536 human ensembl 74_37 +1 known missense c.940 p.A314T 1.000 smart_PKS_ER pfam_ADH_GroES-like,pfam_ADH_C,superfamily_GroES-like,smart_PKS_ER - no_errors VAT1L HGNC ENSG00000171724 31 0 0 10 6 37.5 DNAH9 0 genome.wustl.edu 37 17 11651040 11651040 + Silent SNP G G A TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 17 11651040 11651040 G A SNP DNAH9 ENST00000262442 human ensembl 74_37 +1 known silent c.6567 p.E2189 0.973 pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH9 HGNC ENSG00000007174 60 0 0 37 8 17.7778 LOC440416 0 genome.wustl.edu 37 17 20805576 20805576 + RNA SNP C C T TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 17 20805576 20805576 C T SNP LOC440416 ENST00000577537 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-344E13.3 Clone_based_vega_gene ENSG00000233098 151 0 0 87 16 15.534 MYO1D 0 genome.wustl.edu 37 17 30932222 30932222 + Missense_Mutation SNP A A G TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 17 30932222 30932222 A G SNP MYO1D ENST00000318217 human ensembl 74_37 -1 known missense c.2747 p.L916P 1.000 pfam_Myosin_tail_2 pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO1D HGNC ENSG00000176658 66 0 0 33 12 26.6667 KRT16 0 genome.wustl.edu 37 17 39767374 39767374 + Missense_Mutation SNP C C T TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 17 39767374 39767374 C T SNP KRT16 ENST00000301653 human ensembl 74_37 -1 known missense c.880 p.E294K 0.998 pfam_IF,superfamily_Prefoldin pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT16 HGNC ENSG00000186832 143 0 0 80 16 16.6667 KRT16 0 genome.wustl.edu 37 17 39767456 39767456 + Silent SNP G G A TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 17 39767456 39767456 G A SNP KRT16 ENST00000301653 human ensembl 74_37 -1 known silent c.798 p.T266 0.002 pfam_IF,superfamily_Prefoldin pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT16 HGNC ENSG00000186832 74 0 0 36 6 14.2857 GP1BA 0 genome.wustl.edu 37 17 4835962 4835962 + Missense_Mutation SNP G G T TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 17 4835962 4835962 G T SNP GP1BA ENST00000329125 human ensembl 74_37 +1 known missense c.63 p.E21D 0.002 pfam_LRR-contain_N,smart_LRR-contain_N pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors GP1BA HGNC ENSG00000185245 153 0 0 87 17 16.3462 TANC2 0 genome.wustl.edu 37 17 61498701 61498701 + Missense_Mutation SNP C C G TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 17 61498701 61498701 C G SNP TANC2 ENST00000424789 human ensembl 74_37 +1 known missense c.5358 p.S1786R 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TANC2 HGNC ENSG00000170921 103 1 0.961538 49 12 19.6721 RGS9 0 genome.wustl.edu 37 17 63221358 63221358 + Missense_Mutation SNP G G A TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 17 63221358 63221358 G A SNP RGS9 ENST00000262406 human ensembl 74_37 +1 known missense c.1646 p.R549H 0.000 NULL pfam_RGS_dom,pfam_G-protein_gamma-like_dom,pfam_DEP_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_G-protein_gamma-like_dom,smart_DEP_dom,smart_G-protein_gamma-like_dom,smart_Regulat_G_prot_signal_superfam,pfscan_DEP_dom,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS9 HGNC ENSG00000108370 58 0 0 43 11 20.3704 MALT1 0 genome.wustl.edu 37 18 56376642 56376642 + Nonsense_Mutation SNP C C T TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 18 56376642 56376642 C T SNP MALT1 ENST00000348428 human ensembl 74_37 +1 known nonsense c.682 p.Q228* 1.000 pfscan_Ig-like_dom pfam_Pept_C14_caspase,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_DEATH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Pept_C14_ICE_p20,pfscan_Ig-like_dom - no_errors MALT1 HGNC ENSG00000172175 99 0 0 52 10 16.129 RLN3 0 genome.wustl.edu 37 19 14139122 14139122 + Missense_Mutation SNP G G A TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 19 14139122 14139122 G A SNP RLN3 ENST00000431365 human ensembl 74_37 +1 known missense c.106 p.G36S 1.000 pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like,prints_Insulin_family pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like,prints_Insulin_family - no_errors RLN3 HGNC ENSG00000171136 63 0 0 26 5 16.129 KMT2B 0 genome.wustl.edu 37 19 36221615 36221615 + Missense_Mutation SNP C C T TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 19 36221615 36221615 C T SNP KMT2B ENST00000222270 human ensembl 74_37 +1 known missense c.5284 p.R1762C 1.000 pirsf_MeTrfase_trithorax,pfam_FYrich_N,smart_FYrich_N 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 87 0 0 46 11 19.2982 PSG8 0 genome.wustl.edu 37 19 43262204 43262204 + Missense_Mutation SNP C C T TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 19 43262204 43262204 C T SNP PSG8 ENST00000306511 human ensembl 74_37 -1 known missense c.659 p.R220Q 0.004 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors PSG8 HGNC ENSG00000124467 345 0 0 192 47 19.6653 CRX 0 genome.wustl.edu 37 19 48343048 48343048 + Missense_Mutation SNP G G A TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 19 48343048 48343048 G A SNP CRX ENST00000221996 human ensembl 74_37 +1 known missense c.724 p.V242M 0.465 pfam_Otx_TF_C pfam_Homeobox_dom,pfam_Otx_TF_C,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors CRX HGNC ENSG00000105392 101 1 0.980392 73 12 14.1176 LILRA6 0 genome.wustl.edu 37 19 54745496 54745496 + Missense_Mutation SNP C C T TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 19 54745496 54745496 C T SNP LILRA6 ENST00000270464 human ensembl 74_37 -1 known missense c.614 p.R205Q 0.036 NULL smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LILRA6 HGNC ENSG00000244482 121 0 0 65 10 13.3333 AURKC 0 genome.wustl.edu 37 19 57743416 57743416 + Silent SNP C C T TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 19 57743416 57743416 C T SNP AURKC ENST00000302804 human ensembl 74_37 +1 known silent c.120 p.V40 0.543 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 AURKC HGNC ENSG00000105146 48 0 0 28 9 24.3243 RAPGEF4 0 genome.wustl.edu 37 2 173679118 173679118 + Missense_Mutation SNP C C T TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 2 173679118 173679118 C T SNP RAPGEF4 ENST00000397081 human ensembl 74_37 +1 known missense c.409 p.R137C 1.000 pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom pfam_RasGRF_CDC25,pfam_cNMP-bd_dom,pfam_DEP_dom,pfam_Ras-like_Gua-exchang_fac_N,pfam_Ras-assoc,superfamily_Ras_GEF_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_DEP_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_DEP_dom,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_cAMP/cGMP_kin - no_errors RAPGEF4 HGNC ENSG00000091428 89 0 0 36 17 32.0755 TTN 0 genome.wustl.edu 37 2 179429737 179429737 + Missense_Mutation SNP G G A TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 2 179429737 179429737 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.73418 p.T24473M 0.209 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 126 0 0 63 23 26.7442 ANKRD44 0 genome.wustl.edu 37 2 197878392 197878392 + Silent SNP C C T TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 2 197878392 197878392 C T SNP ANKRD44 ENST00000328737 human ensembl 74_37 -1 known silent c.1692 p.S564 0.008 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD44 HGNC ENSG00000065413 211 0 0 172 29 14.4279 NDUFA10 0 genome.wustl.edu 37 2 240921615 240921615 + Missense_Mutation SNP G G A TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 2 240921615 240921615 G A SNP NDUFA10 ENST00000404554 human ensembl 74_37 -1 novel missense c.1021 p.R341W 0.000 pirsf_NADH_UbQ_OxRdtase_42KD_su pfam_Deoxynucleoside_kinase,superfamily_P-loop_NTPase,pirsf_NADH_UbQ_OxRdtase_42KD_su - no_errors NDUFA10 HGNC ENSG00000130414 86 0 0 51 13 20.3125 LTBP1 0 genome.wustl.edu 37 2 33572560 33572560 + Missense_Mutation SNP G G A TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 2 33572560 33572560 G A SNP LTBP1 ENST00000354476 human ensembl 74_37 +1 known missense c.3986 p.R1329H 1.000 smart_EGF-like_Ca-bd_dom,smart_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,pfscan_EG-like_dom - no_errors LTBP1 HGNC ENSG00000049323 71 0 0 52 9 14.7541 LHCGR 0 genome.wustl.edu 37 2 48915521 48915521 + Missense_Mutation SNP A A G TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 2 48915521 48915521 A G SNP LHCGR ENST00000294954 human ensembl 74_37 -1 known missense c.1415 p.I472T 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_LSH_rcpt,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn,prints_TSH_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors LHCGR HGNC ENSG00000138039 88 0 0 54 18 25 LRRTM1 0 genome.wustl.edu 37 2 80529646 80529646 + Missense_Mutation SNP C C A TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 2 80529646 80529646 C A SNP LRRTM1 ENST00000295057 human ensembl 74_37 -1 known missense c.1299 p.M433I 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRTM1 HGNC ENSG00000162951 53 0 0 24 8 25 CTNNA2 0 genome.wustl.edu 37 2 80835315 80835315 + Missense_Mutation SNP G G T TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 2 80835315 80835315 G T SNP CTNNA2 ENST00000361291 human ensembl 74_37 +1 known missense c.2404 p.D802Y 1.000 pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Vinculin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA2 HGNC ENSG00000066032 64 0 0 71 13 15.4762 TTLL9 0 genome.wustl.edu 37 20 30521649 30521649 + Missense_Mutation SNP C C T TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 20 30521649 30521649 C T SNP TTLL9 ENST00000375934 human ensembl 74_37 +1 known missense c.698 p.T233I 1.000 NULL pfam_TTL/TTLL_fam - no_errors TTLL9 HGNC ENSG00000131044 37 0 0 25 6 19.3548 PDE9A 0 genome.wustl.edu 37 21 44151921 44151921 + Missense_Mutation SNP G G T TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 21 44151921 44151921 G T SNP PDE9A ENST00000291539 human ensembl 74_37 +1 known missense c.304 p.A102S 0.002 NULL pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE9A HGNC ENSG00000160191 101 0 0 47 12 20.339 AGPAT3 0 genome.wustl.edu 37 21 45390580 45390580 + Missense_Mutation SNP G G A TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 21 45390580 45390580 G A SNP AGPAT3 ENST00000291572 human ensembl 74_37 +1 known missense c.557 p.R186H 0.951 pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase - no_errors AGPAT3 HGNC ENSG00000160216 33 0 0 35 11 23.913 COL6A2 0 genome.wustl.edu 37 21 47549137 47549137 + Missense_Mutation SNP C C T TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 21 47549137 47549137 C T SNP COL6A2 ENST00000357838 human ensembl 74_37 +1 known missense c.2489 p.P830L 0.973 NULL pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A2 HGNC ENSG00000142173 56 0 0 38 7 15.5556 C3orf20 0 genome.wustl.edu 37 3 14731512 14731512 + Missense_Mutation SNP G G A TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 3 14731512 14731512 G A SNP C3orf20 ENST00000253697 human ensembl 74_37 +1 known missense c.634 p.A212T 0.000 NULL NULL - no_errors C3orf20 HGNC ENSG00000131379 104 0 0 50 11 18.0328 KLHL24 0 genome.wustl.edu 37 3 183368716 183368716 + Missense_Mutation SNP C C T TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 3 183368716 183368716 C T SNP KLHL24 ENST00000242810 human ensembl 74_37 +1 known missense c.572 p.A191V 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 KLHL24 HGNC ENSG00000114796 104 0 0 75 16 17.5824 ECE2 0 genome.wustl.edu 37 3 184005662 184005662 + Missense_Mutation SNP C C T TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 3 184005662 184005662 C T SNP ECE2 ENST00000402825 human ensembl 74_37 +1 known missense c.1655 p.T552M 1.000 pfam_Peptidase_M13_N pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,pfam_Methyltransf_11,prints_Peptidase_M13_C - no_errors ECE2 HGNC ENSG00000145194 82 0 0 62 11 15.0685 CTNNB1 0 genome.wustl.edu 37 3 41277254 41277254 + Missense_Mutation SNP G G A TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 3 41277254 41277254 G A SNP CTNNB1 ENST00000349496 human ensembl 74_37 +1 known missense c.1723 p.G575R 1.000 superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,prints_Beta-catenin - no_errors CTNNB1 HGNC ENSG00000168036 99 0 0 78 13 14.2857 NBEAL2 0 genome.wustl.edu 37 3 47049627 47049627 + Missense_Mutation SNP G G A TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 3 47049627 47049627 G A SNP NBEAL2 ENST00000450053 human ensembl 74_37 +1 known missense c.7670 p.S2557N 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NBEAL2 HGNC ENSG00000160796 46 0 0 20 3 13.0435 RHOA 0 genome.wustl.edu 37 3 49412898 49412898 + Missense_Mutation SNP T T C TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 3 49412898 49412898 T C SNP RHOA ENST00000418115 human ensembl 74_37 -1 known missense c.125 p.Y42C 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,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,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RHOA HGNC ENSG00000067560 99 0 0 44 34 43.5897 LRIG1 0 genome.wustl.edu 37 3 66457882 66457882 + Silent SNP G G A TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 3 66457882 66457882 G A SNP LRIG1 ENST00000273261 human ensembl 74_37 -1 known silent c.969 p.D323 0.006 smart_Leu-rich_rpt_typical-subtyp pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Cys-rich_flank_reg_C,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRIG1 HGNC ENSG00000144749 42 0 0 21 4 16 TACR3 0 genome.wustl.edu 37 4 104640553 104640553 + Missense_Mutation SNP C C T TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 4 104640553 104640553 C T SNP TACR3 ENST00000304883 human ensembl 74_37 -1 known missense c.280 p.V94M 0.014 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NK3_rcpt,prints_Neurokn_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_NK1_rcpt - no_errors TACR3 HGNC ENSG00000169836 60 0 0 30 9 23.0769 PCDH10 0 genome.wustl.edu 37 4 134072680 134072680 + Missense_Mutation SNP G G A TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 4 134072680 134072680 G A SNP PCDH10 ENST00000264360 human ensembl 74_37 +1 known missense c.1385 p.R462H 1.000 superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH10 HGNC ENSG00000138650 70 0 0 37 11 22.9167 FSTL5 0 genome.wustl.edu 37 4 162577523 162577523 + Missense_Mutation SNP C C T TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 4 162577523 162577523 C T SNP FSTL5 ENST00000306100 human ensembl 74_37 -1 known missense c.851 p.R284K 0.994 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Kazal_dom,pfam_Ig_V-set,smart_Kazal_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_hand_dom,pfscan_Ig-like_dom - no_errors FSTL5 HGNC ENSG00000168843 37 0 0 36 2 5.26316 EVC2 0 genome.wustl.edu 37 4 5642365 5642365 + Missense_Mutation SNP C C T TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 4 5642365 5642365 C T SNP EVC2 ENST00000344408 human ensembl 74_37 -1 known missense c.1346 p.R449Q 1.000 pfam_Limbin pfam_Limbin - no_errors EVC2 HGNC ENSG00000173040 275 2 0.722022 133 31 18.9024 PRKG2 0 genome.wustl.edu 37 4 82125924 82125924 + Missense_Mutation SNP G G A TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 4 82125924 82125924 G A SNP PRKG2 ENST00000264399 human ensembl 74_37 -1 known missense c.278 p.P93L 0.050 pirsf_cGMP-dependent_protein_kinase pfam_Prot_kinase_dom,pfam_cNMP-bd_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_cGMP-dependent_protein_kinase,pfscan_cNMP-bd_dom,pfscan_Prot_kinase_dom,prints_cGMP_dep_kinase,prints_cAMP/cGMP_kin - no_errors PRKG2 HGNC ENSG00000138669 130 0 0 79 13 14.1304 DMXL1 0 genome.wustl.edu 37 5 118469231 118469231 + Missense_Mutation SNP G G A TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 5 118469231 118469231 G A SNP DMXL1 ENST00000539542 human ensembl 74_37 +1 known missense c.1612 p.D538N 1.000 superfamily_WD40_repeat_dom pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL1 HGNC ENSG00000172869 108 0 0 68 17 20 FSTL4 0 genome.wustl.edu 37 5 132535203 132535203 + Missense_Mutation SNP C C T TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 5 132535203 132535203 C T SNP FSTL4 ENST00000265342 human ensembl 74_37 -1 known missense c.2113 p.A705T 0.255 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Kazal_dom,smart_Kazal_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_hand_dom,pfscan_Ig-like_dom - no_errors FSTL4 HGNC ENSG00000053108 48 0 0 23 11 32.3529 DNAH5 0 genome.wustl.edu 37 5 13776589 13776589 + Missense_Mutation SNP A A G TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 5 13776589 13776589 A G SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known missense c.9332 p.I3111T 1.000 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 173 1 0.574713 123 25 16.8919 PCDHA3 0 genome.wustl.edu 37 5 140182827 140182827 + Missense_Mutation SNP C C T TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 5 140182827 140182827 C T SNP PCDHA3 ENST00000522353 human ensembl 74_37 +1 known missense c.2045 p.A682V 0.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA3 HGNC ENSG00000255408 74 0 0 31 7 18.4211 PCDHAC1 0 genome.wustl.edu 37 5 140307641 140307641 + Silent SNP G G A TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 5 140307641 140307641 G A SNP PCDHAC1 ENST00000253807 human ensembl 74_37 +1 known silent c.1164 p.T388 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHAC1 HGNC ENSG00000248383 48 0 0 28 7 20 FAT2 0 genome.wustl.edu 37 5 150928895 150928895 + Missense_Mutation SNP G G A TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 5 150928895 150928895 G A SNP FAT2 ENST00000261800 human ensembl 74_37 -1 known missense c.4750 p.R1584W 0.996 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT2 HGNC ENSG00000086570 27 0 0 16 4 20 GCM2 0 genome.wustl.edu 37 6 10876693 10876693 + Silent SNP G G A TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 6 10876693 10876693 G A SNP GCM2 ENST00000379491 human ensembl 74_37 -1 known silent c.441 p.N147 0.387 pfam_Tscrpt_reg_GCM_motif,superfamily_Tscrpt_reg_GCM_motif,pfscan_Tscrpt_reg_GCM_motif pfam_Tscrpt_reg_GCM_motif,superfamily_Tscrpt_reg_GCM_motif,pfscan_Tscrpt_reg_GCM_motif - no_errors GCM2 HGNC ENSG00000124827 56 0 0 57 8 12.3077 THEMIS 0 genome.wustl.edu 37 6 128134866 128134866 + Missense_Mutation SNP A A G TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 6 128134866 128134866 A G SNP THEMIS ENST00000543064 human ensembl 74_37 -1 known missense c.920 p.I307T 1.000 NULL NULL - no_errors THEMIS HGNC ENSG00000172673 109 1 0.909091 61 13 17.5676 GRM1 0 genome.wustl.edu 37 6 146755675 146755675 + Missense_Mutation SNP G G A TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 6 146755675 146755675 G A SNP GRM1 ENST00000282753 human ensembl 74_37 +1 known missense c.3328 p.V1110M 0.836 NULL pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3_mtglu_rcpt_1,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_5 - no_errors GRM1 HGNC ENSG00000152822 80 0 0 56 13 18.8406 RABL5 0 genome.wustl.edu 37 7 100959744 100959744 + Missense_Mutation SNP G G A TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 7 100959744 100959744 G A SNP RABL5 ENST00000315322 human ensembl 74_37 -1 known missense c.286 p.R96W 1.000 pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_MIRO-like,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase - no_errors RABL5 HGNC ENSG00000128581 128 0 0 68 12 15 KCNV1 0 genome.wustl.edu 37 8 110986297 110986297 + Silent SNP C C T TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 8 110986297 110986297 C T SNP KCNV1 ENST00000297404 human ensembl 74_37 -1 known silent c.321 p.S107 0.595 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv4 pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv8,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv4 - no_errors KCNV1 HGNC ENSG00000164794 19 0 0 9 4 30.7692 CSMD3 0 genome.wustl.edu 37 8 113564865 113564865 + Missense_Mutation SNP C C T TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 8 113564865 113564865 C T SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.4319 p.R1440H 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 53 0 0 32 7 17.9487 NEFL 0 genome.wustl.edu 37 8 24811294 24811294 + RNA SNP G G A TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 8 24811294 24811294 G A SNP NEFL ENST00000221169 human ensembl 74_37 -1 known rna NULL NULL 0.181 - - - no_errors NEFL HGNC ENSG00000104725 26 0 0 17 4 19.0476 YTHDF3 0 genome.wustl.edu 37 8 64098993 64098993 + Nonsense_Mutation SNP C C T TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 8 64098993 64098993 C T SNP YTHDF3 ENST00000539294 human ensembl 74_37 +1 known nonsense c.421 p.Q141* 1.000 NULL pfam_YTH_domain,pfscan_YTH_domain - no_errors YTHDF3 HGNC ENSG00000185728 76 0 0 52 4 7.14286 TNC 0 genome.wustl.edu 37 9 117849383 117849383 + Silent SNP G G A TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 9 117849383 117849383 G A SNP TNC ENST00000350763 human ensembl 74_37 -1 known silent c.627 p.D209 0.174 pfam_EGF_extracell,smart_EG-like_dom pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNC HGNC ENSG00000041982 79 0 0 34 7 17.0732 ZNF79 0 genome.wustl.edu 37 9 130206310 130206310 + Missense_Mutation SNP T T C TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 9 130206310 130206310 T C SNP ZNF79 ENST00000342483 human ensembl 74_37 +1 known missense c.331 p.W111R 0.683 NULL pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF79 HGNC ENSG00000196152 88 0 0 63 15 19.2308 FREM1 0 genome.wustl.edu 37 9 14770699 14770699 + Missense_Mutation SNP C C T TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 9 14770699 14770699 C T SNP FREM1 ENST00000380881 human ensembl 74_37 -1 known missense c.4966 p.V1656M 0.009 NULL pfam_C-type_lectin,pfam_Calx_beta,superfamily_C-type_lectin_fold,superfamily_Cadherin-like,smart_C-type_lectin,pfscan_C-type_lectin - no_errors FREM1 HGNC ENSG00000164946 42 0 0 29 4 12.1212 AMOT 0 genome.wustl.edu 37 X 112035098 112035098 + Nonsense_Mutation SNP G G A TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 X 112035098 112035098 G A SNP AMOT ENST00000371959 human ensembl 74_37 -1 known nonsense c.1888 p.R630* 0.789 pfam_Angiomotin_C pfam_Angiomotin_C,superfamily_Prefoldin,prints_Angiomotin - no_errors AMOT HGNC ENSG00000126016 160 0 0 95 12 11.215 THOC2 0 genome.wustl.edu 37 X 122755146 122755146 + Missense_Mutation SNP C C G TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 X 122755146 122755146 C G SNP THOC2 ENST00000245838 human ensembl 74_37 -1 known missense c.4078 p.E1360Q 1.000 NULL pfam_THO_THOC2_C,pfam_THO_THOC2_N - no_errors THOC2 HGNC ENSG00000125676 179 0 0 117 20 14.5985 DCAF12L2 0 genome.wustl.edu 37 X 125299117 125299117 + Missense_Mutation SNP T T C TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 X 125299117 125299117 T C SNP DCAF12L2 ENST00000360028 human ensembl 74_37 -1 known missense c.791 p.K264R 0.584 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 DCAF12L2 HGNC ENSG00000198354 47 0 0 33 11 25 GPR101 0 genome.wustl.edu 37 X 136113194 136113194 + Missense_Mutation SNP C C T TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 X 136113194 136113194 C T SNP GPR101 ENST00000298110 human ensembl 74_37 -1 known missense c.640 p.V214M 0.990 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR101 HGNC ENSG00000165370 114 0 0 51 11 17.7419 PLXNB3 0 genome.wustl.edu 37 X 153043007 153043007 + Missense_Mutation SNP G G A TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 X 153043007 153043007 G A SNP PLXNB3 ENST00000538966 human ensembl 74_37 +1 known missense c.5194 p.D1732N 1.000 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Plexin_repeat,pfam_Semap_dom,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 PLXNB3 HGNC ENSG00000198753 103 0 0 51 21 29.1667 MECP2 0 genome.wustl.edu 37 X 153297980 153297980 + Missense_Mutation SNP G G C TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 X 153297980 153297980 G C SNP MECP2 ENST00000303391 human ensembl 74_37 -1 known missense c.55 p.Q19E 1.000 pirsf_Me_CpG-bd_MeCP2 pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,superfamily_Ig_E-set,smart_Methyl_CpG_DNA-bd,pirsf_Me_CpG-bd_MeCP2,pfscan_Methyl_CpG_DNA-bd - no_errors MECP2 HGNC ENSG00000169057 152 0 0 70 17 19.5402 SNORA36A 0 genome.wustl.edu 37 X 153996856 153996856 + RNA SNP T T A TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 X 153996856 153996856 T A SNP SNORA36A ENST00000384221 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors SNORA36A HGNC ENSG00000206948 133 0 0 90 15 14.2857 AKAP4 0 genome.wustl.edu 37 X 49958235 49958235 + Missense_Mutation SNP C C T TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 X 49958235 49958235 C T SNP AKAP4 ENST00000358526 human ensembl 74_37 -1 known missense c.1129 p.E377K 0.986 pfam_AKAP_110_C,smart_AKAP_110 pfam_AKAP_110_C,pfam_RII_binding_1,smart_AKAP_110 - no_errors AKAP4 HGNC ENSG00000147081 57 0 0 40 10 20 TRO 0 genome.wustl.edu 37 X 54956240 54956240 + Missense_Mutation SNP G G T TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 X 54956240 54956240 G T SNP TRO ENST00000173898 human ensembl 74_37 +1 known missense c.3083 p.G1028V 0.002 NULL pfam_MAGE,pfscan_MAGE - no_errors TRO HGNC ENSG00000067445 69 0 0 41 6 12.766 XIST 0 genome.wustl.edu 37 X 73064258 73064258 + RNA SNP G G A TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 X 73064258 73064258 G A SNP XIST ENST00000429829 human ensembl 74_37 -1 known rna NULL NULL 0.011 - - - no_errors XIST HGNC ENSG00000229807 77 0 0 38 5 11.6279 ARID1A 0 genome.wustl.edu 37 1 27106497 27106498 + Frame_Shift_Ins INS - - C TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 1 27106497 27106498 - C INS ARID1A ENST00000324856 human ensembl 74_37 +1 known frame_shift_ins c.6108_6109 p.Q2036fs 1.000:1.000 pfam_DUF3518 pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ENSG00000117713 123 0 0 62 15 19.4805 PPM1D 0 genome.wustl.edu 37 17 58740623 58740624 + Frame_Shift_Ins INS - - A TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 17 58740623 58740624 - A INS PPM1D ENST00000305921 human ensembl 74_37 +1 known frame_shift_ins c.1528_1529 p.N512fs 1.000:0.997 NULL pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom - no_errors PPM1D HGNC ENSG00000170836 132 0 0 92 11 10.6796