Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_Position End_Position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_File Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID chromosome_name start stop reference variant type gene_name transcript_name transcript_species transcript_source transcript_version strand transcript_status trv_type c_position amino_acid_change ucsc_cons domain all_domains deletion_substructures transcript_error default_gene_name gene_name_source ensembl_gene_id tier title header normal_ref_reads normal_var_reads normal_VAF tumor_ref_reads tumor_var_reads tumor_VAF SLC6A17 0 genome.wustl.edu 37 1 110737326 110737326 + Silent SNP C C T TCGA-FP-7998-01A-11D-2201-08 TCGA-FP-7998-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 172c9864-c26d-4e9b-947a-e8ce761e996d 1c38848b-b948-49d7-8c2f-bfdcbcddd43f 1 110737326 110737326 C T SNP SLC6A17 ENST00000331565 human ensembl 74_37 +1 known silent c.1425 p.I475 0.994 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan - no_errors SLC6A17 HGNC ENSG00000197106 67 0 0 97 8 7.61905 ATP8B2 0 genome.wustl.edu 37 1 154316667 154316667 + Missense_Mutation SNP G G C TCGA-FP-7998-01A-11D-2201-08 TCGA-FP-7998-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 172c9864-c26d-4e9b-947a-e8ce761e996d 1c38848b-b948-49d7-8c2f-bfdcbcddd43f 1 154316667 154316667 G C SNP ATP8B2 ENST00000368489 human ensembl 74_37 +1 known missense c.2071 p.E691Q 0.998 superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP8B2 HGNC ENSG00000143515 41 0 0 59 7 10.6061 PEX19 0 genome.wustl.edu 37 1 160252825 160252825 + Silent SNP C C T TCGA-FP-7998-01A-11D-2201-08 TCGA-FP-7998-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 172c9864-c26d-4e9b-947a-e8ce761e996d 1c38848b-b948-49d7-8c2f-bfdcbcddd43f 1 160252825 160252825 C T SNP PEX19 ENST00000368072 human ensembl 74_37 -1 known silent c.255 p.A85 0.455 pfam_Pex19 pfam_Pex19 - no_errors PEX19 HGNC ENSG00000162735 53 0 0 61 8 11.5942 UBR4 0 genome.wustl.edu 37 1 19454159 19454159 + Silent SNP G G A TCGA-FP-7998-01A-11D-2201-08 TCGA-FP-7998-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 172c9864-c26d-4e9b-947a-e8ce761e996d 1c38848b-b948-49d7-8c2f-bfdcbcddd43f 1 19454159 19454159 G A SNP UBR4 ENST00000375267 human ensembl 74_37 -1 known silent c.9186 p.F3062 1.000 superfamily_ARM-type_fold superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR4 HGNC ENSG00000127481 88 0 0 93 6 6.06061 DNAH14 0 genome.wustl.edu 37 1 225152313 225152313 + Splice_Site SNP T T C TCGA-FP-7998-01A-11D-2201-08 TCGA-FP-7998-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 172c9864-c26d-4e9b-947a-e8ce761e996d 1c38848b-b948-49d7-8c2f-bfdcbcddd43f 1 225152313 225152313 T C SNP DNAH14 ENST00000430092 human ensembl 74_37 +1 known splice_site c.498+2 e4+2 1.000 - - - no_errors DNAH14 HGNC ENSG00000185842 58 0 0 25 4 13.7931 SRSF4 0 genome.wustl.edu 37 1 29475721 29475721 + Missense_Mutation SNP C C T TCGA-FP-7998-01A-11D-2201-08 TCGA-FP-7998-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 172c9864-c26d-4e9b-947a-e8ce761e996d 1c38848b-b948-49d7-8c2f-bfdcbcddd43f 1 29475721 29475721 C T SNP SRSF4 ENST00000373795 human ensembl 74_37 -1 known missense c.686 p.R229Q 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SRSF4 HGNC ENSG00000116350 22 0 0 34 3 8.10811 NCDN 0 genome.wustl.edu 37 1 36023804 36023804 + Missense_Mutation SNP G G A TCGA-FP-7998-01A-11D-2201-08 TCGA-FP-7998-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 172c9864-c26d-4e9b-947a-e8ce761e996d 1c38848b-b948-49d7-8c2f-bfdcbcddd43f 1 36023804 36023804 G A SNP NCDN ENST00000356090 human ensembl 74_37 +1 known missense c.13 p.D5N 1.000 NULL NULL - no_errors NCDN HGNC ENSG00000020129 238 0 0 229 33 12.5954 NT5C1A 0 genome.wustl.edu 37 1 40131295 40131295 + Missense_Mutation SNP G G A TCGA-FP-7998-01A-11D-2201-08 TCGA-FP-7998-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 172c9864-c26d-4e9b-947a-e8ce761e996d 1c38848b-b948-49d7-8c2f-bfdcbcddd43f 1 40131295 40131295 G A SNP NT5C1A ENST00000235628 human ensembl 74_37 -1 known missense c.331 p.R111W 1.000 pfam_5-nucleotidase pfam_5-nucleotidase - no_errors NT5C1A HGNC ENSG00000116981 49 0 0 43 4 8.51064 CTR9 0 genome.wustl.edu 37 11 10777233 10777233 + Silent SNP G G A TCGA-FP-7998-01A-11D-2201-08 TCGA-FP-7998-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 172c9864-c26d-4e9b-947a-e8ce761e996d 1c38848b-b948-49d7-8c2f-bfdcbcddd43f 11 10777233 10777233 G A SNP CTR9 ENST00000361367 human ensembl 74_37 +1 known silent c.393 p.L131 0.998 pfscan_TPR-contain_dom pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CTR9 HGNC ENSG00000198730 73 0 0 46 3 6.12245 MUC5B 0 genome.wustl.edu 37 11 1267649 1267649 + Missense_Mutation SNP C C T TCGA-FP-7998-01A-11D-2201-08 TCGA-FP-7998-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 172c9864-c26d-4e9b-947a-e8ce761e996d 1c38848b-b948-49d7-8c2f-bfdcbcddd43f 11 1267649 1267649 C T SNP MUC5B ENST00000447027 human ensembl 74_37 +1 known missense c.9548 p.T3183M 0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 97 0 0 103 10 8.84956 ABCC8 0 genome.wustl.edu 37 11 17415246 17415246 + Missense_Mutation SNP C C T TCGA-FP-7998-01A-11D-2201-08 TCGA-FP-7998-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 172c9864-c26d-4e9b-947a-e8ce761e996d 1c38848b-b948-49d7-8c2f-bfdcbcddd43f 11 17415246 17415246 C T SNP ABCC8 ENST00000302539 human ensembl 74_37 -1 known missense c.4609 p.A1537T 1.000 superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,prints_Sulphorea_rcpt,prints_Surea_rcpt-1,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC8 HGNC ENSG00000006071 174 0 0 197 13 6.19048 ZNF215 0 genome.wustl.edu 37 11 6953858 6953858 + Missense_Mutation SNP A A G TCGA-FP-7998-01A-11D-2201-08 TCGA-FP-7998-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 172c9864-c26d-4e9b-947a-e8ce761e996d 1c38848b-b948-49d7-8c2f-bfdcbcddd43f 11 6953858 6953858 A G SNP ZNF215 ENST00000278319 human ensembl 74_37 +1 known missense c.355 p.M119V 0.926 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF215 HGNC ENSG00000149054 63 0 0 27 2 6.89655 PHOX2A 0 genome.wustl.edu 37 11 71952253 71952253 + Missense_Mutation SNP C C T TCGA-FP-7998-01A-11D-2201-08 TCGA-FP-7998-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 172c9864-c26d-4e9b-947a-e8ce761e996d 1c38848b-b948-49d7-8c2f-bfdcbcddd43f 11 71952253 71952253 C T SNP PHOX2A ENST00000298231 human ensembl 74_37 -1 known missense c.298 p.A100T 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors PHOX2A HGNC ENSG00000165462 36 0 0 51 4 7.27273 PRB3 0 genome.wustl.edu 37 12 11420936 11420936 + Missense_Mutation SNP G G A TCGA-FP-7998-01A-11D-2201-08 TCGA-FP-7998-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 172c9864-c26d-4e9b-947a-e8ce761e996d 1c38848b-b948-49d7-8c2f-bfdcbcddd43f 12 11420936 11420936 G A SNP PRB3 ENST00000381842 human ensembl 74_37 -1 known missense c.247 p.P83S 0.193 NULL NULL - no_errors PRB3 HGNC ENSG00000197870 326 1 0.30581 351 28 7.38786 CIT 0 genome.wustl.edu 37 12 120190007 120190007 + Missense_Mutation SNP G G C TCGA-FP-7998-01A-11D-2201-08 TCGA-FP-7998-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 172c9864-c26d-4e9b-947a-e8ce761e996d 1c38848b-b948-49d7-8c2f-bfdcbcddd43f 12 120190007 120190007 G C SNP CIT ENST00000261833 human ensembl 74_37 -1 known missense c.2626 p.L876V 1.000 pirsf_Citron_Rho-interacting_kinase pfam_Citron,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pirsf_Citron_Rho-interacting_kinase,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors CIT HGNC ENSG00000122966 16 0 0 27 4 12.9032 SP7 0 genome.wustl.edu 37 12 53722327 53722327 + Missense_Mutation SNP C C T TCGA-FP-7998-01A-11D-2201-08 TCGA-FP-7998-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 172c9864-c26d-4e9b-947a-e8ce761e996d 1c38848b-b948-49d7-8c2f-bfdcbcddd43f 12 53722327 53722327 C T SNP SP7 ENST00000303846 human ensembl 74_37 -1 known missense c.899 p.G300D 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SP7 HGNC ENSG00000170374 42 0 0 28 3 9.67742 MMP19 0 genome.wustl.edu 37 12 56231058 56231058 + Nonsense_Mutation SNP G G T TCGA-FP-7998-01A-11D-2201-08 TCGA-FP-7998-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 172c9864-c26d-4e9b-947a-e8ce761e996d 1c38848b-b948-49d7-8c2f-bfdcbcddd43f 12 56231058 56231058 G T SNP MMP19 ENST00000322569 human ensembl 74_37 -1 known nonsense c.1289 p.S430* 0.950 pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Hemopexin-like_repeat,pirsf_Pept_M10A_Metazoans pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,pirsf_Pept_M10A_Metazoans,prints_Pept_M10A - no_errors MMP19 HGNC ENSG00000123342 150 0 0 158 25 13.6612 SUOX 0 genome.wustl.edu 37 12 56397880 56397880 + Missense_Mutation SNP G G T TCGA-FP-7998-01A-11D-2201-08 TCGA-FP-7998-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 172c9864-c26d-4e9b-947a-e8ce761e996d 1c38848b-b948-49d7-8c2f-bfdcbcddd43f 12 56397880 56397880 G T SNP SUOX ENST00000266971 human ensembl 74_37 +1 known missense c.707 p.G236V 1.000 pfam_OxRdtase_Mopterin-bd_dom,superfamily_OxRdtase_Mopterin-bd_dom pfam_OxRdtase_Mopterin-bd_dom,pfam_MoCF_OxRdtse_dimer,pfam_Cyt_B5-like_heme/steroid-bd,superfamily_OxRdtase_Mopterin-bd_dom,superfamily_Ig_E-set,superfamily_Cyt_B5-like_heme/steroid-bd,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Mopterin_OxRdtase_euk,prints_Cyt_B5-like_heme/steroid-bd - no_errors SUOX HGNC ENSG00000139531 74 0 0 62 22 26.1905 NINJ2 0 genome.wustl.edu 37 12 675332 675332 + Missense_Mutation SNP C C T TCGA-FP-7998-01A-11D-2201-08 TCGA-FP-7998-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 172c9864-c26d-4e9b-947a-e8ce761e996d 1c38848b-b948-49d7-8c2f-bfdcbcddd43f 12 675332 675332 C T SNP NINJ2 ENST00000305108 human ensembl 74_37 -1 known missense c.184 p.D62N 0.008 NULL pfam_Ninjurin - no_errors NINJ2 HGNC ENSG00000171840 29 0 0 10 3 23.0769 MYF5 0 genome.wustl.edu 37 12 81111120 81111120 + Missense_Mutation SNP G G A TCGA-FP-7998-01A-11D-2201-08 TCGA-FP-7998-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 172c9864-c26d-4e9b-947a-e8ce761e996d 1c38848b-b948-49d7-8c2f-bfdcbcddd43f 12 81111120 81111120 G A SNP MYF5 ENST00000228644 human ensembl 74_37 +1 known missense c.278 p.R93Q 1.000 pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom pfam_Basic,pfam_Myf5,pfam_bHLH_dom,superfamily_bHLH_dom,smart_Basic,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MYF5 HGNC ENSG00000111049 25 0 0 40 4 9.09091 IKBIP 0 genome.wustl.edu 37 12 99020374 99020374 + Silent SNP C C T TCGA-FP-7998-01A-11D-2201-08 TCGA-FP-7998-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 172c9864-c26d-4e9b-947a-e8ce761e996d 1c38848b-b948-49d7-8c2f-bfdcbcddd43f 12 99020374 99020374 C T SNP IKBIP ENST00000299157 human ensembl 74_37 -1 known silent c.468 p.T156 0.538 NULL NULL - no_errors IKBIP HGNC ENSG00000166130 73 0 0 38 5 11.6279 FLT1 0 genome.wustl.edu 37 13 28903858 28903858 + Silent SNP G G T TCGA-FP-7998-01A-11D-2201-08 TCGA-FP-7998-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 172c9864-c26d-4e9b-947a-e8ce761e996d 1c38848b-b948-49d7-8c2f-bfdcbcddd43f 13 28903858 28903858 G T SNP FLT1 ENST00000282397 human ensembl 74_37 -1 known silent c.2601 p.A867 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_Ig_I-set,pfam_Prot_kinase_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_VEGFR1_rcpt - no_errors FLT1 HGNC ENSG00000102755 19 0 0 17 4 19.0476 KLHL1 0 genome.wustl.edu 37 13 70549922 70549922 + Silent SNP G G T TCGA-FP-7998-01A-11D-2201-08 TCGA-FP-7998-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 172c9864-c26d-4e9b-947a-e8ce761e996d 1c38848b-b948-49d7-8c2f-bfdcbcddd43f 13 70549922 70549922 G T SNP KLHL1 ENST00000377844 human ensembl 74_37 -1 known silent c.510 p.T170 0.129 NULL pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHL1 HGNC ENSG00000150361 52 0 0 34 4 10.5263 AHNAK2 0 genome.wustl.edu 37 14 105413048 105413048 + Missense_Mutation SNP G G A TCGA-FP-7998-01A-11D-2201-08 TCGA-FP-7998-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 172c9864-c26d-4e9b-947a-e8ce761e996d 1c38848b-b948-49d7-8c2f-bfdcbcddd43f 14 105413048 105413048 G A SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known missense c.8740 p.P2914S 0.280 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 202 0 0 147 26 15.0289 DHRS4 0 genome.wustl.edu 37 14 24424379 24424379 + Nonsense_Mutation SNP C C A TCGA-FP-7998-01A-11D-2201-08 TCGA-FP-7998-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 172c9864-c26d-4e9b-947a-e8ce761e996d 1c38848b-b948-49d7-8c2f-bfdcbcddd43f 14 24424379 24424379 C A SNP DHRS4 ENST00000313250 human ensembl 74_37 +1 known nonsense c.264 p.C88* 1.000 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DHB_DH,prints_DH_sc/Rdtase_SDR,prints_ADH_insect - no_errors DHRS4 HGNC ENSG00000157326 41 0 0 36 3 7.69231 FSCB 0 genome.wustl.edu 37 14 44973958 44973958 + Missense_Mutation SNP G G T TCGA-FP-7998-01A-11D-2201-08 TCGA-FP-7998-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 172c9864-c26d-4e9b-947a-e8ce761e996d 1c38848b-b948-49d7-8c2f-bfdcbcddd43f 14 44973958 44973958 G T SNP FSCB ENST00000340446 human ensembl 74_37 -1 known missense c.2233 p.Q745K 0.000 NULL NULL - no_errors FSCB HGNC ENSG00000189139 38 0 0 28 3 9.67742 RPL10L 0 genome.wustl.edu 37 14 47120763 47120763 + Missense_Mutation SNP C C A TCGA-FP-7998-01A-11D-2201-08 TCGA-FP-7998-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 172c9864-c26d-4e9b-947a-e8ce761e996d 1c38848b-b948-49d7-8c2f-bfdcbcddd43f 14 47120763 47120763 C A SNP RPL10L ENST00000298283 human ensembl 74_37 -1 known missense c.177 p.Q59H 1.000 pfam_Ribosomal_L10e/L16,superfamily_Ribosomal_L10e/L16,pirsf_Ribosomal_L10e,tigrfam_Ribosomal_L10e pfam_Ribosomal_L10e/L16,superfamily_Ribosomal_L10e/L16,pirsf_Ribosomal_L10e,tigrfam_Ribosomal_L10e - no_errors RPL10L HGNC ENSG00000165496 57 0 0 69 6 8 BCL11B 0 genome.wustl.edu 37 14 99723808 99723808 + Missense_Mutation SNP C C A TCGA-FP-7998-01A-11D-2201-08 TCGA-FP-7998-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 172c9864-c26d-4e9b-947a-e8ce761e996d 1c38848b-b948-49d7-8c2f-bfdcbcddd43f 14 99723808 99723808 C A SNP BCL11B ENST00000357195 human ensembl 74_37 -1 known missense c.427 p.G143W 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BCL11B HGNC ENSG00000127152 192 1 0.518135 172 18 9.47368 PLK1 0 genome.wustl.edu 37 16 23691501 23691501 + Nonsense_Mutation SNP C C T TCGA-FP-7998-01A-11D-2201-08 TCGA-FP-7998-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 172c9864-c26d-4e9b-947a-e8ce761e996d 1c38848b-b948-49d7-8c2f-bfdcbcddd43f 16 23691501 23691501 C T SNP PLK1 ENST00000300093 human ensembl 74_37 +1 known nonsense c.505 p.R169* 0.678 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_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 94 0 0 81 12 12.9032 ZNF785 0 genome.wustl.edu 37 16 30594148 30594148 + Silent SNP G G A TCGA-FP-7998-01A-11D-2201-08 TCGA-FP-7998-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 172c9864-c26d-4e9b-947a-e8ce761e996d 1c38848b-b948-49d7-8c2f-bfdcbcddd43f 16 30594148 30594148 G A SNP ZNF785 ENST00000395216 human ensembl 74_37 -1 known silent c.951 p.C317 0.256 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 ZNF785 HGNC ENSG00000197162 50 0 0 56 4 6.66667 ZNF423 0 genome.wustl.edu 37 16 49669967 49669967 + Silent SNP C C T TCGA-FP-7998-01A-11D-2201-08 TCGA-FP-7998-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 172c9864-c26d-4e9b-947a-e8ce761e996d 1c38848b-b948-49d7-8c2f-bfdcbcddd43f 16 49669967 49669967 C T SNP ZNF423 ENST00000262383 human ensembl 74_37 -1 known silent c.3096 p.T1032 0.981 smart_Znf_C2H2-like pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF423 HGNC ENSG00000102935 38 0 0 35 6 14.6341 SETD6 0 genome.wustl.edu 37 16 58550528 58550528 + Missense_Mutation SNP G G A TCGA-FP-7998-01A-11D-2201-08 TCGA-FP-7998-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 172c9864-c26d-4e9b-947a-e8ce761e996d 1c38848b-b948-49d7-8c2f-bfdcbcddd43f 16 58550528 58550528 G A SNP SETD6 ENST00000219315 human ensembl 74_37 +1 known missense c.623 p.R208H 1.000 pfam_SET_dom,pirsf_RuBisCo-cyt_methylase pfam_SET_dom,pfam_Rubisco_LSMT_subst-bd,superfamily_Rubisco_LSMT_subst-bd,pirsf_RuBisCo-cyt_methylase - no_errors SETD6 HGNC ENSG00000103037 34 0 0 40 6 13.0435 CDH16 0 genome.wustl.edu 37 16 66948198 66948198 + Missense_Mutation SNP A A G TCGA-FP-7998-01A-11D-2201-08 TCGA-FP-7998-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 172c9864-c26d-4e9b-947a-e8ce761e996d 1c38848b-b948-49d7-8c2f-bfdcbcddd43f 16 66948198 66948198 A G SNP CDH16 ENST00000299752 human ensembl 74_37 -1 known missense c.701 p.I234T 0.997 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH16 HGNC ENSG00000166589 61 0 0 60 16 21.0526 WDR81 0 genome.wustl.edu 37 17 1635975 1635975 + Missense_Mutation SNP C C T TCGA-FP-7998-01A-11D-2201-08 TCGA-FP-7998-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 172c9864-c26d-4e9b-947a-e8ce761e996d 1c38848b-b948-49d7-8c2f-bfdcbcddd43f 17 1635975 1635975 C T SNP WDR81 ENST00000409644 human ensembl 74_37 +1 known missense c.4339 p.P1447S 0.002 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 24 0 0 28 4 12.5 MRM1 0 genome.wustl.edu 37 17 34958746 34958746 + Silent SNP C C T TCGA-FP-7998-01A-11D-2201-08 TCGA-FP-7998-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 172c9864-c26d-4e9b-947a-e8ce761e996d 1c38848b-b948-49d7-8c2f-bfdcbcddd43f 17 34958746 34958746 C T SNP MRM1 ENST00000250156 human ensembl 74_37 +1 known silent c.507 p.L169 1.000 pfam_SpoU_MeTrfase,tigrfam_rRNA_MeTrfase_TrmH pfam_SpoU_MeTrfase,pfam_SpoU_subst-bd,smart_SpoU_subst-bd,tigrfam_rRNA_MeTrfase_TrmH - no_errors MRM1 HGNC ENSG00000129282 39 0 0 42 10 19.2308 CHRNE 0 genome.wustl.edu 37 17 4805383 4805383 + Splice_Site SNP C C G TCGA-FP-7998-01A-11D-2201-08 TCGA-FP-7998-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 172c9864-c26d-4e9b-947a-e8ce761e996d 1c38848b-b948-49d7-8c2f-bfdcbcddd43f 17 4805383 4805383 C G SNP CHRNE ENST00000293780 human ensembl 74_37 -1 known splice_site c.345-1 e5-1 1.000 - - - no_errors CHRNE HGNC ENSG00000108556 24 0 0 25 4 13.7931 UTP18 0 genome.wustl.edu 37 17 49346248 49346248 + Missense_Mutation SNP G G A TCGA-FP-7998-01A-11D-2201-08 TCGA-FP-7998-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 172c9864-c26d-4e9b-947a-e8ce761e996d 1c38848b-b948-49d7-8c2f-bfdcbcddd43f 17 49346248 49346248 G A SNP UTP18 ENST00000225298 human ensembl 74_37 +1 known missense c.605 p.R202Q 0.939 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors UTP18 HGNC ENSG00000011260 60 0 0 34 4 10.5263 NLRP1 0 genome.wustl.edu 37 17 5442796 5442796 + Missense_Mutation SNP C C T TCGA-FP-7998-01A-11D-2201-08 TCGA-FP-7998-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 172c9864-c26d-4e9b-947a-e8ce761e996d 1c38848b-b948-49d7-8c2f-bfdcbcddd43f 17 5442796 5442796 C T SNP NLRP1 ENST00000572272 human ensembl 74_37 -1 known missense c.2809 p.V937I 0.000 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_CARD,pfam_DAPIN,pfam_Leu-rich_rpt,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD,pfscan_DAPIN,prints_Disease_R - no_errors NLRP1 HGNC ENSG00000091592 51 0 0 45 12 21.0526 KDM6B 0 genome.wustl.edu 37 17 7752759 7752759 + Silent SNP C C T TCGA-FP-7998-01A-11D-2201-08 TCGA-FP-7998-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 172c9864-c26d-4e9b-947a-e8ce761e996d 1c38848b-b948-49d7-8c2f-bfdcbcddd43f 17 7752759 7752759 C T SNP KDM6B ENST00000254846 human ensembl 74_37 +1 known silent c.3153 p.A1051 0.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM6B HGNC ENSG00000132510 19 0 0 34 2 5.55556 CDH7 0 genome.wustl.edu 37 18 63477064 63477064 + Missense_Mutation SNP G G A TCGA-FP-7998-01A-11D-2201-08 TCGA-FP-7998-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 172c9864-c26d-4e9b-947a-e8ce761e996d 1c38848b-b948-49d7-8c2f-bfdcbcddd43f 18 63477064 63477064 G A SNP CDH7 ENST00000323011 human ensembl 74_37 +1 known missense c.335 p.R112H 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 CDH7 HGNC ENSG00000081138 48 0 0 48 9 15.7895 GRIN2D 0 genome.wustl.edu 37 19 48908092 48908092 + Silent SNP C C T TCGA-FP-7998-01A-11D-2201-08 TCGA-FP-7998-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 172c9864-c26d-4e9b-947a-e8ce761e996d 1c38848b-b948-49d7-8c2f-bfdcbcddd43f 19 48908092 48908092 C T SNP GRIN2D ENST00000263269 human ensembl 74_37 +1 known silent c.567 p.A189 0.008 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2D HGNC ENSG00000105464 296 0 0 290 24 7.64331 MCOLN1 0 genome.wustl.edu 37 19 7593841 7593841 + Silent SNP C C T TCGA-FP-7998-01A-11D-2201-08 TCGA-FP-7998-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 172c9864-c26d-4e9b-947a-e8ce761e996d 1c38848b-b948-49d7-8c2f-bfdcbcddd43f 19 7593841 7593841 C T SNP MCOLN1 ENST00000264079 human ensembl 74_37 +1 known silent c.1119 p.I373 0.264 NULL pfam_PKD1_2_channel,superfamily_Glycoside_hydrolase_SF - no_errors MCOLN1 HGNC ENSG00000090674 89 0 0 94 10 9.61538 MLPH 0 genome.wustl.edu 37 2 238427238 238427238 + Missense_Mutation SNP G G T TCGA-FP-7998-01A-11D-2201-08 TCGA-FP-7998-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 172c9864-c26d-4e9b-947a-e8ce761e996d 1c38848b-b948-49d7-8c2f-bfdcbcddd43f 2 238427238 238427238 G T SNP MLPH ENST00000264605 human ensembl 74_37 +1 known missense c.502 p.D168Y 0.348 NULL pfam_Myrip/Melanophilin,superfamily_Znf_FYVE_PHD,pfscan_Znf_FYVE-typ - no_errors MLPH HGNC ENSG00000115648 26 0 0 26 2 7.14286 ANXA4 0 genome.wustl.edu 37 2 70052627 70052627 + Missense_Mutation SNP C C A TCGA-FP-7998-01A-11D-2201-08 TCGA-FP-7998-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 172c9864-c26d-4e9b-947a-e8ce761e996d 1c38848b-b948-49d7-8c2f-bfdcbcddd43f 2 70052627 70052627 C A SNP ANXA4 ENST00000394295 human ensembl 74_37 +1 known missense c.946 p.L316I 1.000 pfam_Annexin_repeat,smart_Annexin_repeat,prints_Annexin pfam_Annexin_repeat,smart_Annexin_repeat,prints_Annexin,prints_AnnexinIV,prints_AnnexinV - no_errors ANXA4 HGNC ENSG00000196975 69 0 0 24 2 7.69231 BFSP1 0 genome.wustl.edu 37 20 17475310 17475310 + Silent SNP C C A TCGA-FP-7998-01A-11D-2201-08 TCGA-FP-7998-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 172c9864-c26d-4e9b-947a-e8ce761e996d 1c38848b-b948-49d7-8c2f-bfdcbcddd43f 20 17475310 17475310 C A SNP BFSP1 ENST00000377873 human ensembl 74_37 -1 known silent c.1407 p.R469 0.958 NULL pfam_IF,superfamily_Prefoldin - no_errors BFSP1 HGNC ENSG00000125864 41 0 0 51 16 23.8806 YWHAB 0 genome.wustl.edu 37 20 43530312 43530312 + Silent SNP C C T TCGA-FP-7998-01A-11D-2201-08 TCGA-FP-7998-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 172c9864-c26d-4e9b-947a-e8ce761e996d 1c38848b-b948-49d7-8c2f-bfdcbcddd43f 20 43530312 43530312 C T SNP YWHAB ENST00000353703 human ensembl 74_37 +1 known silent c.138 p.L46 1.000 pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3 pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3 - no_errors YWHAB HGNC ENSG00000166913 58 0 0 56 5 8.19672 TRMT6 0 genome.wustl.edu 37 20 5922593 5922593 + RNA SNP G G A TCGA-FP-7998-01A-11D-2201-08 TCGA-FP-7998-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 172c9864-c26d-4e9b-947a-e8ce761e996d 1c38848b-b948-49d7-8c2f-bfdcbcddd43f 20 5922593 5922593 G A SNP TRMT6 ENST00000466974 human ensembl 74_37 -1 known rna NULL NULL 0.674 - - - no_errors TRMT6 HGNC ENSG00000089195 155 0 0 158 39 19.797 MYO18B 0 genome.wustl.edu 37 22 26222459 26222459 + Missense_Mutation SNP A A T TCGA-FP-7998-01A-11D-2201-08 TCGA-FP-7998-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 172c9864-c26d-4e9b-947a-e8ce761e996d 1c38848b-b948-49d7-8c2f-bfdcbcddd43f 22 26222459 26222459 A T SNP MYO18B ENST00000335473 human ensembl 74_37 +1 known missense c.2779 p.I927F 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,superfamily_tRNA-bd_arm,superfamily_Ribosomal_zn-bd,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO18B HGNC ENSG00000133454 127 0 0 124 23 15.6463 KALRN 0 genome.wustl.edu 37 3 124174132 124174132 + Missense_Mutation SNP C C G TCGA-FP-7998-01A-11D-2201-08 TCGA-FP-7998-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 172c9864-c26d-4e9b-947a-e8ce761e996d 1c38848b-b948-49d7-8c2f-bfdcbcddd43f 3 124174132 124174132 C G SNP KALRN ENST00000360013 human ensembl 74_37 +1 known missense c.3655 p.H1219D 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Fibronectin_type3,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors KALRN HGNC ENSG00000160145 88 0 0 69 5 6.75676 ALDH1L1 0 genome.wustl.edu 37 3 125826018 125826018 + Missense_Mutation SNP C C T TCGA-FP-7998-01A-11D-2201-08 TCGA-FP-7998-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 172c9864-c26d-4e9b-947a-e8ce761e996d 1c38848b-b948-49d7-8c2f-bfdcbcddd43f 3 125826018 125826018 C T SNP ALDH1L1 ENST00000393434 human ensembl 74_37 -1 known missense c.2419 p.G807R 1.000 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,pirsf_10_FTHF_DH pfam_Aldehyde_DH_dom,pfam_Formyl_transf_N,pfam_Formyl_trans_C,pfam_Acyl_carrier_prot-like,superfamily_Ald_DH/histidinol_DH,superfamily_Formyl_transf_N,superfamily_Formyl_transferase_C-like,superfamily_Acyl_carrier_prot-like,pirsf_10_FTHF_DH,pfscan_Acyl_carrier_prot-like - no_errors ALDH1L1 HGNC ENSG00000144908 153 0 0 142 17 10.6918 BCHE 0 genome.wustl.edu 37 3 165548173 165548173 + Missense_Mutation SNP G G C TCGA-FP-7998-01A-11D-2201-08 TCGA-FP-7998-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 172c9864-c26d-4e9b-947a-e8ce761e996d 1c38848b-b948-49d7-8c2f-bfdcbcddd43f 3 165548173 165548173 G C SNP BCHE ENST00000264381 human ensembl 74_37 -1 known missense c.649 p.P217A 1.000 pfam_CarbesteraseB,pfam_AB_hydrolase_3 pfam_CarbesteraseB,pfam_AChE_tetra,pfam_AB_hydrolase_3,prints_Cholinesterase - no_errors BCHE HGNC ENSG00000114200 67 0 0 55 5 8.33333 PIK3CA 0 genome.wustl.edu 37 3 178936082 178936082 + Missense_Mutation SNP G G A TCGA-FP-7998-01A-11D-2201-08 TCGA-FP-7998-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 172c9864-c26d-4e9b-947a-e8ce761e996d 1c38848b-b948-49d7-8c2f-bfdcbcddd43f 3 178936082 178936082 G A SNP PIK3CA ENST00000263967 human ensembl 74_37 +1 known missense c.1624 p.E542K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 43 0 0 12 3 20 LRRN1 0 genome.wustl.edu 37 3 3887403 3887403 + Missense_Mutation SNP C C T TCGA-FP-7998-01A-11D-2201-08 TCGA-FP-7998-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 172c9864-c26d-4e9b-947a-e8ce761e996d 1c38848b-b948-49d7-8c2f-bfdcbcddd43f 3 3887403 3887403 C T SNP LRRN1 ENST00000319331 human ensembl 74_37 +1 known missense c.1078 p.L360F 0.998 NULL pfam_Ig_I-set,pfam_Leu-rich_rpt,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_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRRN1 HGNC ENSG00000175928 77 0 0 62 10 13.8889 CSPG5 0 genome.wustl.edu 37 3 47610613 47610613 + Missense_Mutation SNP G G A TCGA-FP-7998-01A-11D-2201-08 TCGA-FP-7998-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 172c9864-c26d-4e9b-947a-e8ce761e996d 1c38848b-b948-49d7-8c2f-bfdcbcddd43f 3 47610613 47610613 G A SNP CSPG5 ENST00000383738 human ensembl 74_37 -1 known missense c.1487 p.T496I 0.987 pfam_Neural_ProG_Cyt pfam_Chon_Sulph_att,pfam_Neural_ProG_Cyt - no_errors CSPG5 HGNC ENSG00000114646 20 0 0 12 3 20 ZNF717 0 genome.wustl.edu 37 3 75790798 75790798 + Silent SNP G G A TCGA-FP-7998-01A-11D-2201-08 TCGA-FP-7998-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 172c9864-c26d-4e9b-947a-e8ce761e996d 1c38848b-b948-49d7-8c2f-bfdcbcddd43f 3 75790798 75790798 G A SNP ZNF717 ENST00000422325 human ensembl 74_37 -1 known silent c.147 p.D49 0.981 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF717 HGNC ENSG00000227124 8 0 0 27 7 20.5882 PPP3CA 0 genome.wustl.edu 37 4 102117123 102117123 + Nonsense_Mutation SNP G G C TCGA-FP-7998-01A-11D-2201-08 TCGA-FP-7998-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 172c9864-c26d-4e9b-947a-e8ce761e996d 1c38848b-b948-49d7-8c2f-bfdcbcddd43f 4 102117123 102117123 G C SNP PPP3CA ENST00000394854 human ensembl 74_37 -1 known nonsense c.209 p.S70* 0.998 smart_Ser/Thr-sp_prot-phosphatase pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPP3CA HGNC ENSG00000138814 80 0 0 59 6 9.23077 PCDH18 0 genome.wustl.edu 37 4 138451632 138451632 + Missense_Mutation SNP T T G TCGA-FP-7998-01A-11D-2201-08 TCGA-FP-7998-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 172c9864-c26d-4e9b-947a-e8ce761e996d 1c38848b-b948-49d7-8c2f-bfdcbcddd43f 4 138451632 138451632 T G SNP PCDH18 ENST00000344876 human ensembl 74_37 -1 known missense c.1611 p.E537D 0.997 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH18 HGNC ENSG00000189184 101 0 0 69 18 20.6897 FSTL5 0 genome.wustl.edu 37 4 162307248 162307248 + Missense_Mutation SNP T T C TCGA-FP-7998-01A-11D-2201-08 TCGA-FP-7998-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 172c9864-c26d-4e9b-947a-e8ce761e996d 1c38848b-b948-49d7-8c2f-bfdcbcddd43f 4 162307248 162307248 T C SNP FSTL5 ENST00000306100 human ensembl 74_37 -1 known missense c.2195 p.D732G 1.000 NULL pfam_Ig_I-set,pfam_Kazal_dom,pfam_Ig_V-set,smart_Kazal_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_hand_dom,pfscan_Ig-like_dom - no_errors FSTL5 HGNC ENSG00000168843 44 0 0 27 3 10 AFF4 0 genome.wustl.edu 37 5 132227941 132227941 + Missense_Mutation SNP G G A TCGA-FP-7998-01A-11D-2201-08 TCGA-FP-7998-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 172c9864-c26d-4e9b-947a-e8ce761e996d 1c38848b-b948-49d7-8c2f-bfdcbcddd43f 5 132227941 132227941 G A SNP AFF4 ENST00000265343 human ensembl 74_37 -1 known missense c.2552 p.T851M 0.562 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF4 HGNC ENSG00000072364 105 0 0 75 11 12.7907 KIAA1191 0 genome.wustl.edu 37 5 175774949 175774949 + Silent SNP C C T TCGA-FP-7998-01A-11D-2201-08 TCGA-FP-7998-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 172c9864-c26d-4e9b-947a-e8ce761e996d 1c38848b-b948-49d7-8c2f-bfdcbcddd43f 5 175774949 175774949 C T SNP KIAA1191 ENST00000298569 human ensembl 74_37 -1 known silent c.684 p.P228 0.027 NULL NULL - no_errors KIAA1191 HGNC ENSG00000122203 118 1 0.840336 93 6 6.06061 CDH12 0 genome.wustl.edu 37 5 21751951 21751951 + Missense_Mutation SNP T T G TCGA-FP-7998-01A-11D-2201-08 TCGA-FP-7998-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 172c9864-c26d-4e9b-947a-e8ce761e996d 1c38848b-b948-49d7-8c2f-bfdcbcddd43f 5 21751951 21751951 T G SNP CDH12 ENST00000382254 human ensembl 74_37 -1 known missense c.2280 p.E760D 0.265 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH12 HGNC ENSG00000154162 69 0 0 63 5 7.35294 VCAN 0 genome.wustl.edu 37 5 82836373 82836373 + Silent SNP C C T TCGA-FP-7998-01A-11D-2201-08 TCGA-FP-7998-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 172c9864-c26d-4e9b-947a-e8ce761e996d 1c38848b-b948-49d7-8c2f-bfdcbcddd43f 5 82836373 82836373 C T SNP VCAN ENST00000265077 human ensembl 74_37 +1 known silent c.7551 p.D2517 0.246 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 33 0 0 40 4 9.09091 MEF2C 0 genome.wustl.edu 37 5 88047821 88047821 + Missense_Mutation SNP G G T TCGA-FP-7998-01A-11D-2201-08 TCGA-FP-7998-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 172c9864-c26d-4e9b-947a-e8ce761e996d 1c38848b-b948-49d7-8c2f-bfdcbcddd43f 5 88047821 88047821 G T SNP MEF2C ENST00000437473 human ensembl 74_37 -1 known missense c.442 p.P148T 1.000 pfam_HJURP_C pfam_TF_MADSbox,pfam_HJURP_C,superfamily_TF_MADSbox,smart_TF_MADSbox,prints_TF_MADSbox,pfscan_TF_MADSbox - no_errors MEF2C HGNC ENSG00000081189 64 0 0 53 8 13.1148 RPF2 0 genome.wustl.edu 37 6 111329288 111329288 + Silent SNP C C T TCGA-FP-7998-01A-11D-2201-08 TCGA-FP-7998-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 172c9864-c26d-4e9b-947a-e8ce761e996d 1c38848b-b948-49d7-8c2f-bfdcbcddd43f 6 111329288 111329288 C T SNP RPF2 ENST00000441448 human ensembl 74_37 +1 known silent c.441 p.G147 0.986 pfam_Brix,superfamily_Anticodon-bd,smart_Brix,pfscan_Brix pfam_Brix,superfamily_Anticodon-bd,smart_Brix,pfscan_Brix - no_errors RPF2 HGNC ENSG00000197498 92 0 0 45 3 6.25 HDAC2 0 genome.wustl.edu 37 6 114267310 114267310 + Missense_Mutation SNP G G A TCGA-FP-7998-01A-11D-2201-08 TCGA-FP-7998-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 172c9864-c26d-4e9b-947a-e8ce761e996d 1c38848b-b948-49d7-8c2f-bfdcbcddd43f 6 114267310 114267310 G A SNP HDAC2 ENST00000398283 human ensembl 74_37 -1 known missense c.1126 p.H376Y 1.000 pfam_His_deacetylse_dom pfam_His_deacetylse_dom,prints_His_deacetylse_1,prints_His_deacetylse - no_errors HDAC2 HGNC ENSG00000196591 74 0 0 38 2 5 QKI 0 genome.wustl.edu 37 6 163836228 163836228 + Missense_Mutation SNP G G A TCGA-FP-7998-01A-11D-2201-08 TCGA-FP-7998-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 172c9864-c26d-4e9b-947a-e8ce761e996d 1c38848b-b948-49d7-8c2f-bfdcbcddd43f 6 163836228 163836228 G A SNP QKI ENST00000361752 human ensembl 74_37 +1 known missense c.3 p.M1I 1.000 NULL pfam_KH_dom_type_1,smart_KH_dom - no_errors QKI HGNC ENSG00000112531 26 0 0 28 6 17.6471 PDE10A 0 genome.wustl.edu 37 6 165808679 165808679 + Missense_Mutation SNP C C T TCGA-FP-7998-01A-11D-2201-08 TCGA-FP-7998-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 172c9864-c26d-4e9b-947a-e8ce761e996d 1c38848b-b948-49d7-8c2f-bfdcbcddd43f 6 165808679 165808679 C T SNP PDE10A ENST00000539869 human ensembl 74_37 -1 known missense c.1496 p.G499E 1.000 NULL pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE10A HGNC ENSG00000112541 22 0 0 21 10 32.2581 PRL 0 genome.wustl.edu 37 6 22294695 22294695 + Silent SNP G G A TCGA-FP-7998-01A-11D-2201-08 TCGA-FP-7998-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 172c9864-c26d-4e9b-947a-e8ce761e996d 1c38848b-b948-49d7-8c2f-bfdcbcddd43f 6 22294695 22294695 G A SNP PRL ENST00000306482 human ensembl 74_37 -1 known silent c.147 p.R49 0.010 pfam_Somatotropin,superfamily_4_helix_cytokine-like_core pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin - no_errors PRL HGNC ENSG00000172179 74 0 0 81 14 14.7368 TFAP2D 0 genome.wustl.edu 37 6 50682949 50682949 + Missense_Mutation SNP G G A TCGA-FP-7998-01A-11D-2201-08 TCGA-FP-7998-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 172c9864-c26d-4e9b-947a-e8ce761e996d 1c38848b-b948-49d7-8c2f-bfdcbcddd43f 6 50682949 50682949 G A SNP TFAP2D ENST00000008391 human ensembl 74_37 +1 known missense c.160 p.E54K 1.000 NULL pfam_TF_AP2_C,prints_TF_AP2_C - no_errors TFAP2D HGNC ENSG00000008197 159 0 0 202 24 10.6195 COL19A1 0 genome.wustl.edu 37 6 70637880 70637880 + Missense_Mutation SNP C C T TCGA-FP-7998-01A-11D-2201-08 TCGA-FP-7998-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 172c9864-c26d-4e9b-947a-e8ce761e996d 1c38848b-b948-49d7-8c2f-bfdcbcddd43f 6 70637880 70637880 C T SNP COL19A1 ENST00000322773 human ensembl 74_37 +1 known missense c.346 p.R116W 0.994 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL19A1 HGNC ENSG00000082293 57 0 0 33 14 29.7872 FKBP9L 0 genome.wustl.edu 37 7 55750350 55750350 + RNA SNP C C T TCGA-FP-7998-01A-11D-2201-08 TCGA-FP-7998-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 172c9864-c26d-4e9b-947a-e8ce761e996d 1c38848b-b948-49d7-8c2f-bfdcbcddd43f 7 55750350 55750350 C T SNP FKBP9L ENST00000455909 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors FKBP9L HGNC ENSG00000176826 21 0 0 24 3 11.1111 ZNF804B 0 genome.wustl.edu 37 7 88963200 88963200 + Missense_Mutation SNP A A C TCGA-FP-7998-01A-11D-2201-08 TCGA-FP-7998-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 172c9864-c26d-4e9b-947a-e8ce761e996d 1c38848b-b948-49d7-8c2f-bfdcbcddd43f 7 88963200 88963200 A C SNP ZNF804B ENST00000333190 human ensembl 74_37 +1 known missense c.904 p.I302L 0.035 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804B HGNC ENSG00000182348 39 0 0 22 4 15.3846 LMTK2 0 genome.wustl.edu 37 7 97821450 97821450 + Missense_Mutation SNP A A G TCGA-FP-7998-01A-11D-2201-08 TCGA-FP-7998-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 172c9864-c26d-4e9b-947a-e8ce761e996d 1c38848b-b948-49d7-8c2f-bfdcbcddd43f 7 97821450 97821450 A G SNP LMTK2 ENST00000297293 human ensembl 74_37 +1 known missense c.1673 p.K558R 0.999 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 LMTK2 HGNC ENSG00000164715 63 0 0 49 6 10.9091 ANK1 0 genome.wustl.edu 37 8 41550270 41550270 + Nonsense_Mutation SNP G G A TCGA-FP-7998-01A-11D-2201-08 TCGA-FP-7998-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 172c9864-c26d-4e9b-947a-e8ce761e996d 1c38848b-b948-49d7-8c2f-bfdcbcddd43f 8 41550270 41550270 G A SNP ANK1 ENST00000396942 human ensembl 74_37 -1 known nonsense c.3754 p.R1252* 0.998 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK1 HGNC ENSG00000029534 275 0 0 264 19 6.71378 GAPVD1 0 genome.wustl.edu 37 9 128092357 128092357 + Missense_Mutation SNP G G A TCGA-FP-7998-01A-11D-2201-08 TCGA-FP-7998-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 172c9864-c26d-4e9b-947a-e8ce761e996d 1c38848b-b948-49d7-8c2f-bfdcbcddd43f 9 128092357 128092357 G A SNP GAPVD1 ENST00000394105 human ensembl 74_37 +1 known missense c.2033 p.G678D 1.000 NULL pfam_RasGAP,pfam_VPS9,superfamily_Rho_GTPase_activation_prot,smart_VPS9_subgr,pfscan_VPS9,pfscan_RasGAP - no_errors GAPVD1 HGNC ENSG00000165219 150 0 0 111 13 10.4839 DDX31 0 genome.wustl.edu 37 9 135535140 135535140 + Silent SNP C C T TCGA-FP-7998-01A-11D-2201-08 TCGA-FP-7998-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 172c9864-c26d-4e9b-947a-e8ce761e996d 1c38848b-b948-49d7-8c2f-bfdcbcddd43f 9 135535140 135535140 C T SNP DDX31 ENST00000372159 human ensembl 74_37 -1 known silent c.795 p.L265 0.999 pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX31 HGNC ENSG00000125485 40 0 0 23 2 8 QSOX2 0 genome.wustl.edu 37 9 139113777 139113777 + Missense_Mutation SNP T T A TCGA-FP-7998-01A-11D-2201-08 TCGA-FP-7998-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 172c9864-c26d-4e9b-947a-e8ce761e996d 1c38848b-b948-49d7-8c2f-bfdcbcddd43f 9 139113777 139113777 T A SNP QSOX2 ENST00000358701 human ensembl 74_37 -1 known missense c.686 p.D229V 1.000 NULL pfam_ERV/ALR_sulphydryl_oxidase,pfam_Thioredoxin_domain,superfamily_ERV/ALR_sulphydryl_oxidase,superfamily_Thioredoxin-like_fold - no_errors QSOX2 HGNC ENSG00000165661 88 0 0 80 12 13.0435 MLLT3 0 genome.wustl.edu 37 9 20414343 20414343 + Silent SNP A A G TCGA-FP-7998-01A-11D-2201-08 TCGA-FP-7998-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 172c9864-c26d-4e9b-947a-e8ce761e996d 1c38848b-b948-49d7-8c2f-bfdcbcddd43f 9 20414343 20414343 A G SNP MLLT3 ENST00000380338 human ensembl 74_37 -1 known silent c.501 p.S167 0.998 NULL pfam_YEATS,pfscan_YEATS - no_errors MLLT3 HGNC ENSG00000171843 21 0 0 17 3 15 PTPRD 0 genome.wustl.edu 37 9 8485824 8485824 + Missense_Mutation SNP G G A TCGA-FP-7998-01A-11D-2201-08 TCGA-FP-7998-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 172c9864-c26d-4e9b-947a-e8ce761e996d 1c38848b-b948-49d7-8c2f-bfdcbcddd43f 9 8485824 8485824 G A SNP PTPRD ENST00000356435 human ensembl 74_37 -1 known missense c.2993 p.T998M 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,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 33 0 0 25 5 16.6667 MT-RNR2 0 genome.wustl.edu 37 MT 1888 1888 + RNA SNP G G A TCGA-FP-7998-01A-11D-2201-08 TCGA-FP-7998-10A-01D-2201-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 172c9864-c26d-4e9b-947a-e8ce761e996d 1c38848b-b948-49d7-8c2f-bfdcbcddd43f MT 1888 1888 G A SNP MT-RNR2 ENST00000387347 human ensembl 74_37 +1 known rna NULL NULL NULL - - - no_errors MT-RNR2 HGNC ENSG00000210082 11 0 0 2 2 50 IRS4 0 genome.wustl.edu 37 X 107977194 107977194 + Missense_Mutation SNP C C A TCGA-FP-7998-01A-11D-2201-08 TCGA-FP-7998-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 172c9864-c26d-4e9b-947a-e8ce761e996d 1c38848b-b948-49d7-8c2f-bfdcbcddd43f X 107977194 107977194 C A SNP IRS4 ENST00000372129 human ensembl 74_37 -1 known missense c.2381 p.R794I 0.000 NULL pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1 - no_errors IRS4 HGNC ENSG00000133124 82 0 0 69 10 12.6582 MAMLD1 0 genome.wustl.edu 37 X 149639635 149639635 + Missense_Mutation SNP A A T TCGA-FP-7998-01A-11D-2201-08 TCGA-FP-7998-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 172c9864-c26d-4e9b-947a-e8ce761e996d 1c38848b-b948-49d7-8c2f-bfdcbcddd43f X 149639635 149639635 A T SNP MAMLD1 ENST00000432680 human ensembl 74_37 +1 known missense c.1715 p.Q572L 0.996 NULL NULL - no_errors MAMLD1 HGNC ENSG00000013619 37 0 0 51 4 7.27273 AMER1 0 genome.wustl.edu 37 X 63412939 63412939 + Silent SNP T T C TCGA-FP-7998-01A-11D-2201-08 TCGA-FP-7998-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 172c9864-c26d-4e9b-947a-e8ce761e996d 1c38848b-b948-49d7-8c2f-bfdcbcddd43f X 63412939 63412939 T C SNP AMER1 ENST00000330258 human ensembl 74_37 -1 known silent c.228 p.G76 0.996 NULL pfam_Uncharacterised_FAM123 - no_errors AMER1 HGNC ENSG00000184675 34 0 0 46 3 6.12245 CPXCR1 0 genome.wustl.edu 37 X 88008872 88008872 + Missense_Mutation SNP C C A TCGA-FP-7998-01A-11D-2201-08 TCGA-FP-7998-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 172c9864-c26d-4e9b-947a-e8ce761e996d 1c38848b-b948-49d7-8c2f-bfdcbcddd43f X 88008872 88008872 C A SNP CPXCR1 ENST00000276127 human ensembl 74_37 +1 known missense c.457 p.L153I 0.008 NULL pfscan_Znf_C2H2 - no_errors CPXCR1 HGNC ENSG00000147183 25 0 0 12 5 29.4118 AMBRA1 0 genome.wustl.edu 37 11 46568609 46568609 + RNA DEL A A - TCGA-FP-7998-01A-11D-2201-08 TCGA-FP-7998-10A-01D-2201-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 172c9864-c26d-4e9b-947a-e8ce761e996d 1c38848b-b948-49d7-8c2f-bfdcbcddd43f 11 46568609 46568609 A - DEL AMBRA1 ENST00000524783 human ensembl 74_37 -1 known rna NULL NULL 0.881 - - - no_errors AMBRA1 HGNC ENSG00000110497 30 0 0 11 3 21.4286 MNS1 0 genome.wustl.edu 37 15 56736723 56736723 + Frame_Shift_Del DEL T T - TCGA-FP-7998-01A-11D-2201-08 TCGA-FP-7998-10A-01D-2201-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 172c9864-c26d-4e9b-947a-e8ce761e996d 1c38848b-b948-49d7-8c2f-bfdcbcddd43f 15 56736723 56736723 T - DEL MNS1 ENST00000260453 human ensembl 74_37 -1 known frame_shift_del c.605 p.K202fs 1.000 NULL NULL - no_errors MNS1 HGNC ENSG00000138587 49 0 0 28 4 12.5 SRCAP 0 genome.wustl.edu 37 16 30736371 30736371 + Frame_Shift_Del DEL C C - TCGA-FP-7998-01A-11D-2201-08 TCGA-FP-7998-10A-01D-2201-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 172c9864-c26d-4e9b-947a-e8ce761e996d 1c38848b-b948-49d7-8c2f-bfdcbcddd43f 16 30736371 30736371 C - DEL SRCAP ENST00000262518 human ensembl 74_37 +1 known frame_shift_del c.5626 p.P1878fs 1.000 NULL pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like - no_errors SRCAP HGNC ENSG00000080603 174 1 0.571429 179 28 13.5266 BCL6B 0 genome.wustl.edu 37 17 6928019 6928020 + In_Frame_Ins INS - - CAG TCGA-FP-7998-01A-11D-2201-08 TCGA-FP-7998-10A-01D-2201-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 172c9864-c26d-4e9b-947a-e8ce761e996d 1c38848b-b948-49d7-8c2f-bfdcbcddd43f 17 6928019 6928020 - CAG INS BCL6B ENST00000293805 human ensembl 74_37 +1 known in_frame_ins c.701_702 p.238in_frame_insS 0.939:0.528 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 BCL6B HGNC ENSG00000161940 24 0 0 27 4 12.9032