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 ABCB1 0 genome.wustl.edu 37 7 87150159 87150159 + Missense_Mutation SNP C C T TCGA-VQ-A8E7-01B-11D-A410-08 TCGA-VQ-A8E7-10B-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eafa019f-744e-4aae-9a03-529379a7d7f1 c4b3b43a-a766-4a0f-b4e5-9d2e7a8c3867 7 87150159 87150159 C T SNP ABCB1 ENST00000265724 human ensembl 74_37 -1 known missense c.2719 p.V907I 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB1 HGNC ENSG00000085563 tier1 - - 99 0 0.00 51 44 46.32 ACE2 0 genome.wustl.edu 37 X 15607559 15607559 + Missense_Mutation SNP A A G TCGA-VQ-A8E7-01B-11D-A410-08 TCGA-VQ-A8E7-10B-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eafa019f-744e-4aae-9a03-529379a7d7f1 c4b3b43a-a766-4a0f-b4e5-9d2e7a8c3867 X 15607559 15607559 A G SNP ACE2 ENST00000252519 human ensembl 74_37 -1 known missense c.604 p.Y202H 1.000 pfam_Peptidase_M2 pfam_Peptidase_M2,prints_Peptidase_M2 - no_errors ACE2 HGNC ENSG00000130234 tier1 - - 127 0 0.00 29 66 69.47 ANXA4 0 genome.wustl.edu 37 2 70039831 70039831 + Missense_Mutation SNP A A G TCGA-VQ-A8E7-01B-11D-A410-08 TCGA-VQ-A8E7-10B-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eafa019f-744e-4aae-9a03-529379a7d7f1 c4b3b43a-a766-4a0f-b4e5-9d2e7a8c3867 2 70039831 70039831 A G SNP ANXA4 ENST00000394295 human ensembl 74_37 +1 known missense c.524 p.Q175R 1.000 pfam_Annexin_repeat,prints_AnnexinV pfam_Annexin_repeat,smart_Annexin_repeat,prints_Annexin,prints_AnnexinIV,prints_AnnexinV - no_errors ANXA4 HGNC ENSG00000196975 tier1 - - 68 0 0.00 46 5 9.80 ART3 0 genome.wustl.edu 37 4 77033594 77033594 + Silent SNP C C A TCGA-VQ-A8E7-01B-11D-A410-08 TCGA-VQ-A8E7-10B-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eafa019f-744e-4aae-9a03-529379a7d7f1 c4b3b43a-a766-4a0f-b4e5-9d2e7a8c3867 4 77033594 77033594 C A SNP ART3 ENST00000355810 human ensembl 74_37 +1 known silent c.1092 p.G364 0.518 NULL pfam_ART,prints_ART - no_errors ART3 HGNC ENSG00000156219 tier1 - - 86 0 0.00 36 17 31.48 ASTN2 0 genome.wustl.edu 37 9 119858381 119858381 + Silent SNP G G A TCGA-VQ-A8E7-01B-11D-A410-08 TCGA-VQ-A8E7-10B-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eafa019f-744e-4aae-9a03-529379a7d7f1 c4b3b43a-a766-4a0f-b4e5-9d2e7a8c3867 9 119858381 119858381 G A SNP ASTN2 ENST00000313400 human ensembl 74_37 -1 known silent c.1218 p.D406 0.209 NULL pfam_MACPF,superfamily_Fibronectin_type3,smart_MACPF - no_errors ASTN2 HGNC ENSG00000148219 tier1 - - 59 0 0.00 54 15 21.74 BIRC7 0 genome.wustl.edu 37 20 61869319 61869319 + Silent SNP C C T TCGA-VQ-A8E7-01B-11D-A410-08 TCGA-VQ-A8E7-10B-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eafa019f-744e-4aae-9a03-529379a7d7f1 c4b3b43a-a766-4a0f-b4e5-9d2e7a8c3867 20 61869319 61869319 C T SNP BIRC7 ENST00000217169 human ensembl 74_37 +1 known silent c.414 p.D138 0.728 pfam_BIR,smart_BIR,pfscan_BIR pfam_BIR,smart_BIR,smart_Znf_RING,pfscan_BIR,pfscan_Znf_RING - no_errors BIRC7 HGNC ENSG00000101197 tier1 - - 39 0 0.00 20 5 20.00 C12orf77 0 genome.wustl.edu 37 12 25148833 25148833 + Silent SNP C C T TCGA-VQ-A8E7-01B-11D-A410-08 TCGA-VQ-A8E7-10B-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eafa019f-744e-4aae-9a03-529379a7d7f1 c4b3b43a-a766-4a0f-b4e5-9d2e7a8c3867 12 25148833 25148833 C T SNP C12orf77 ENST00000549828 human ensembl 74_37 -1 known silent c.315 p.T105 0.004 NULL NULL - no_errors C12orf77 HGNC ENSG00000226397 tier1 - - 45 0 0.00 31 18 36.73 C17orf62 0 genome.wustl.edu 37 17 80401813 80401813 + Silent SNP C C T TCGA-VQ-A8E7-01B-11D-A410-08 TCGA-VQ-A8E7-10B-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eafa019f-744e-4aae-9a03-529379a7d7f1 c4b3b43a-a766-4a0f-b4e5-9d2e7a8c3867 17 80401813 80401813 C T SNP C17orf62 ENST00000336995 human ensembl 74_37 -1 known silent c.186 p.E62 0.000 NULL NULL - no_errors C17orf62 HGNC ENSG00000178927 tier1 - - 184 0 0.00 119 8 6.30 C1orf21 0 genome.wustl.edu 37 1 184567568 184567568 + Silent SNP C C T TCGA-VQ-A8E7-01B-11D-A410-08 TCGA-VQ-A8E7-10B-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eafa019f-744e-4aae-9a03-529379a7d7f1 c4b3b43a-a766-4a0f-b4e5-9d2e7a8c3867 1 184567568 184567568 C T SNP C1orf21 ENST00000235307 human ensembl 74_37 +1 known silent c.300 p.F100 1.000 NULL NULL - no_errors C1orf21 HGNC ENSG00000116667 tier1 - - 49 0 0.00 32 24 42.86 C6orf118 0 genome.wustl.edu 37 6 165693553 165693553 + Missense_Mutation SNP C C A TCGA-VQ-A8E7-01B-11D-A410-08 TCGA-VQ-A8E7-10B-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eafa019f-744e-4aae-9a03-529379a7d7f1 c4b3b43a-a766-4a0f-b4e5-9d2e7a8c3867 6 165693553 165693553 C A SNP C6orf118 ENST00000230301 human ensembl 74_37 -1 known missense c.1403 p.R468I 0.000 NULL superfamily_Ribonuclease/ribotoxin - no_errors C6orf118 HGNC ENSG00000112539 tier1 - - 60 0 0.00 35 15 30.00 CDH11 0 genome.wustl.edu 37 16 65016025 65016025 + Missense_Mutation SNP T T G TCGA-VQ-A8E7-01B-11D-A410-08 TCGA-VQ-A8E7-10B-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eafa019f-744e-4aae-9a03-529379a7d7f1 c4b3b43a-a766-4a0f-b4e5-9d2e7a8c3867 16 65016025 65016025 T G SNP CDH11 ENST00000268603 human ensembl 74_37 -1 known missense c.1179 p.Q393H 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH11 HGNC ENSG00000140937 tier1 - - 115 0 0.00 69 32 31.68 CDH4 0 genome.wustl.edu 37 20 60511941 60511941 + Silent SNP C C T TCGA-VQ-A8E7-01B-11D-A410-08 TCGA-VQ-A8E7-10B-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eafa019f-744e-4aae-9a03-529379a7d7f1 c4b3b43a-a766-4a0f-b4e5-9d2e7a8c3867 20 60511941 60511941 C T SNP CDH4 ENST00000360469 human ensembl 74_37 +1 known silent c.2691 p.N897 1.000 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin - no_errors CDH4 HGNC ENSG00000179242 tier1 - - 50 0 0.00 35 14 28.57 CDK11B 0 genome.wustl.edu 37 1 1572130 1572130 + Missense_Mutation SNP C C T TCGA-VQ-A8E7-01B-11D-A410-08 TCGA-VQ-A8E7-10B-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eafa019f-744e-4aae-9a03-529379a7d7f1 c4b3b43a-a766-4a0f-b4e5-9d2e7a8c3867 1 1572130 1572130 C T SNP CDK11B ENST00000407249 human ensembl 74_37 -1 known missense c.1840 p.V614M 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CDK11B HGNC ENSG00000248333 tier1 - - 63 0 0.00 30 19 38.78 CNPY4 0 genome.wustl.edu 37 7 99722151 99722151 + Missense_Mutation SNP G G C TCGA-VQ-A8E7-01B-11D-A410-08 TCGA-VQ-A8E7-10B-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eafa019f-744e-4aae-9a03-529379a7d7f1 c4b3b43a-a766-4a0f-b4e5-9d2e7a8c3867 7 99722151 99722151 G C SNP CNPY4 ENST00000262932 human ensembl 74_37 +1 known missense c.480 p.L160F 1.000 pfam_DUF3456 pfam_DUF3456 - no_errors CNPY4 HGNC ENSG00000166997 tier1 - - 96 0 0.00 76 5 6.17 CNTNAP2 0 genome.wustl.edu 37 7 147183119 147183119 + Missense_Mutation SNP C C T TCGA-VQ-A8E7-01B-11D-A410-08 TCGA-VQ-A8E7-10B-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eafa019f-744e-4aae-9a03-529379a7d7f1 c4b3b43a-a766-4a0f-b4e5-9d2e7a8c3867 7 147183119 147183119 C T SNP CNTNAP2 ENST00000361727 human ensembl 74_37 +1 known missense c.1763 p.A588V 1.000 pfam_EG-like_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP2 HGNC ENSG00000174469 tier1 - - 74 0 0.00 68 32 31.68 CSPG4 0 genome.wustl.edu 37 15 75969101 75969101 + Missense_Mutation SNP C C T TCGA-VQ-A8E7-01B-11D-A410-08 TCGA-VQ-A8E7-10B-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eafa019f-744e-4aae-9a03-529379a7d7f1 c4b3b43a-a766-4a0f-b4e5-9d2e7a8c3867 15 75969101 75969101 C T SNP CSPG4 ENST00000308508 human ensembl 74_37 -1 known missense c.5759 p.S1920N 0.990 NULL pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G - no_errors CSPG4 HGNC ENSG00000173546 tier1 - - 83 0 0.00 26 19 42.22 DIDO1 0 genome.wustl.edu 37 20 61512754 61512754 + Silent SNP G G A TCGA-VQ-A8E7-01B-11D-A410-08 TCGA-VQ-A8E7-10B-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eafa019f-744e-4aae-9a03-529379a7d7f1 c4b3b43a-a766-4a0f-b4e5-9d2e7a8c3867 20 61512754 61512754 G A SNP DIDO1 ENST00000266070 human ensembl 74_37 -1 known silent c.4554 p.D1518 0.902 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger - no_errors DIDO1 HGNC ENSG00000101191 tier1 - - 107 0 0.00 49 30 37.97 DLD 0 genome.wustl.edu 37 7 107557304 107557304 + Missense_Mutation SNP G G A TCGA-VQ-A8E7-01B-11D-A410-08 TCGA-VQ-A8E7-10B-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eafa019f-744e-4aae-9a03-529379a7d7f1 c4b3b43a-a766-4a0f-b4e5-9d2e7a8c3867 7 107557304 107557304 G A SNP DLD ENST00000205402 human ensembl 74_37 +1 known missense c.941 p.G314D 1.000 pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_FAD_pyr_nucl-diS_OxRdtase,tigrfam_Lipoamide_DH pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_nucl-diS_OxRdtase_dimer,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_FAD_bind_dom,pfam_GIDA-rel,superfamily_FAD/NAD-linked_Rdtase_dimer,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase,prints_Pyridine_nuc-diS_OxRdtase_2,tigrfam_Lipoamide_DH - no_errors DLD HGNC ENSG00000091140 tier1 - - 163 0 0.00 77 87 53.05 DNAH8 0 genome.wustl.edu 37 6 38749121 38749121 + Missense_Mutation SNP G G A TCGA-VQ-A8E7-01B-11D-A410-08 TCGA-VQ-A8E7-10B-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eafa019f-744e-4aae-9a03-529379a7d7f1 c4b3b43a-a766-4a0f-b4e5-9d2e7a8c3867 6 38749121 38749121 G A SNP DNAH8 ENST00000359357 human ensembl 74_37 +1 known missense c.1580 p.R527Q 1.000 pfam_Dynein_heavy_dom-1 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH8 HGNC ENSG00000124721 tier1 - - 85 0 0.00 80 5 5.88 DRD4 0 genome.wustl.edu 37 11 640543 640543 + Silent SNP C C T TCGA-VQ-A8E7-01B-11D-A410-08 TCGA-VQ-A8E7-10B-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eafa019f-744e-4aae-9a03-529379a7d7f1 c4b3b43a-a766-4a0f-b4e5-9d2e7a8c3867 11 640543 640543 C T SNP DRD4 ENST00000176183 human ensembl 74_37 +1 known silent c.1200 p.Y400 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Dopamine_D4_rcpt,prints_Dopamine_rcpt - no_errors DRD4 HGNC ENSG00000069696 tier1 - - 103 0 0.00 37 28 43.08 DSG1 0 genome.wustl.edu 37 18 28906573 28906573 + Silent SNP A A T TCGA-VQ-A8E7-01B-11D-A410-08 TCGA-VQ-A8E7-10B-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eafa019f-744e-4aae-9a03-529379a7d7f1 c4b3b43a-a766-4a0f-b4e5-9d2e7a8c3867 18 28906573 28906573 A T SNP DSG1 ENST00000257192 human ensembl 74_37 +1 known silent c.78 p.R26 0.972 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Desmoglein,prints_Cadherin,prints_Desmosomal_cadherin - no_errors DSG1 HGNC ENSG00000134760 tier1 - - 68 0 0.00 53 8 13.11 DTX1 0 genome.wustl.edu 37 12 113532693 113532693 + Missense_Mutation SNP C C T TCGA-VQ-A8E7-01B-11D-A410-08 TCGA-VQ-A8E7-10B-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eafa019f-744e-4aae-9a03-529379a7d7f1 c4b3b43a-a766-4a0f-b4e5-9d2e7a8c3867 12 113532693 113532693 C T SNP DTX1 ENST00000257600 human ensembl 74_37 +1 known missense c.1327 p.R443C 1.000 smart_Znf_RING,pfscan_Znf_RING pfam_WWE-dom,smart_WWE-dom_subgr,smart_Znf_RING,pfscan_WWE-dom,pfscan_Znf_RING - no_errors DTX1 HGNC ENSG00000135144 55 0 0.00 56 4 6.67 ENSG00000221060 0 genome.wustl.edu 37 14 70270922 70270922 + RNA DEL T T - TCGA-VQ-A8E7-01B-11D-A410-08 TCGA-VQ-A8E7-10B-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eafa019f-744e-4aae-9a03-529379a7d7f1 c4b3b43a-a766-4a0f-b4e5-9d2e7a8c3867 14 70270922 70270922 T - DEL ENSG00000221060 ENST00000408133 human ensembl 74_37 -1 novel rna NULL NULL 0.003 - - - no_errors SNORA11 RFAM ENSG00000221060 tier1 10 0 0.00 10 4 28.57 ENSG00000226145 0 genome.wustl.edu 37 17 16722184 16722184 + RNA DEL G G - TCGA-VQ-A8E7-01B-11D-A410-08 TCGA-VQ-A8E7-10B-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eafa019f-744e-4aae-9a03-529379a7d7f1 c4b3b43a-a766-4a0f-b4e5-9d2e7a8c3867 17 16722184 16722184 G - DEL ENSG00000226145 ENST00000417510 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AC022596.6 Clone_based_vega_gene ENSG00000226145 tier1 26 0 0.00 7 2 22.22 ENSG00000258027 0 genome.wustl.edu 37 14 20085535 20085535 + RNA SNP A A T TCGA-VQ-A8E7-01B-11D-A410-08 TCGA-VQ-A8E7-10B-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eafa019f-744e-4aae-9a03-529379a7d7f1 c4b3b43a-a766-4a0f-b4e5-9d2e7a8c3867 14 20085535 20085535 A T SNP ENSG00000258027 ENST00000548217 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-597A11.1 Clone_based_vega_gene ENSG00000258027 tier1 - - 36 0 0.00 26 4 13.33 EPHX4 0 genome.wustl.edu 37 1 92511121 92511122 + Frame_Shift_Ins INS - - G TCGA-VQ-A8E7-01B-11D-A410-08 TCGA-VQ-A8E7-10B-01D-A413-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eafa019f-744e-4aae-9a03-529379a7d7f1 c4b3b43a-a766-4a0f-b4e5-9d2e7a8c3867 1 92511121 92511122 - G INS EPHX4 ENST00000370383 human ensembl 74_37 +1 known frame_shift_ins c.508_509 p.M173fs 1.000:1.000 pfam_AB_hydrolase_1,prints_Epox_hydrolase-like,prints_AB_hydrolase_1 pfam_AB_hydrolase_1,prints_Epox_hydrolase-like,prints_AB_hydrolase_1 - no_errors EPHX4 HGNC ENSG00000172031 tier1 219 0 0.00 158 49 23.67 ERBB4 0 genome.wustl.edu 37 2 212426722 212426722 + Missense_Mutation SNP A A C TCGA-VQ-A8E7-01B-11D-A410-08 TCGA-VQ-A8E7-10B-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eafa019f-744e-4aae-9a03-529379a7d7f1 c4b3b43a-a766-4a0f-b4e5-9d2e7a8c3867 2 212426722 212426722 A C SNP ERBB4 ENST00000342788 human ensembl 74_37 -1 known missense c.2393 p.L798R 0.999 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ERBB4 HGNC ENSG00000178568 tier1 - - 95 0 0.00 22 52 70.27 FAT2 0 genome.wustl.edu 37 5 150945611 150945611 + Missense_Mutation SNP C C T TCGA-VQ-A8E7-01B-11D-A410-08 TCGA-VQ-A8E7-10B-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eafa019f-744e-4aae-9a03-529379a7d7f1 c4b3b43a-a766-4a0f-b4e5-9d2e7a8c3867 5 150945611 150945611 C T SNP FAT2 ENST00000261800 human ensembl 74_37 -1 known missense c.2882 p.R961Q 0.000 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 tier1 - - 34 0 0.00 12 10 45.45 FBP2 0 genome.wustl.edu 37 9 97321300 97321300 + Nonsense_Mutation SNP G G A TCGA-VQ-A8E7-01B-11D-A410-08 TCGA-VQ-A8E7-10B-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eafa019f-744e-4aae-9a03-529379a7d7f1 c4b3b43a-a766-4a0f-b4e5-9d2e7a8c3867 9 97321300 97321300 G A SNP FBP2 ENST00000375337 human ensembl 74_37 -1 known nonsense c.940 p.R314* 1.000 pfam_FBPase_class-1/SBPase,prints_FBPtase,prints_SBPase pfam_FBPase_class-1/SBPase,pfam_Inositol_monophosphatase,prints_FBPtase,prints_SBPase - no_errors FBP2 HGNC ENSG00000130957 tier1 - - 76 0 0.00 56 46 45.10 FGF13 0 genome.wustl.edu 37 X 137717629 137717629 + Missense_Mutation SNP T T G TCGA-VQ-A8E7-01B-11D-A410-08 TCGA-VQ-A8E7-10B-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eafa019f-744e-4aae-9a03-529379a7d7f1 c4b3b43a-a766-4a0f-b4e5-9d2e7a8c3867 X 137717629 137717629 T G SNP FGF13 ENST00000370603 human ensembl 74_37 -1 known missense c.620 p.K207T 1.000 superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam,prints_Fibroblast_GF_fam - no_errors FGF13 HGNC ENSG00000129682 tier1 - - 70 0 0.00 51 11 17.74 FHOD3 0 genome.wustl.edu 37 18 34320665 34320665 + Missense_Mutation SNP A A G TCGA-VQ-A8E7-01B-11D-A410-08 TCGA-VQ-A8E7-10B-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eafa019f-744e-4aae-9a03-529379a7d7f1 c4b3b43a-a766-4a0f-b4e5-9d2e7a8c3867 18 34320665 34320665 A G SNP FHOD3 ENST00000257209 human ensembl 74_37 +1 known missense c.3098 p.Q1033R 1.000 pfam_FH2_Formin,smart_FH2_Formin pfam_FH2_Formin,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors FHOD3 HGNC ENSG00000134775 tier1 - - 44 0 0.00 23 11 32.35 GRIA1 0 genome.wustl.edu 37 5 152873616 152873616 + Missense_Mutation SNP A A G TCGA-VQ-A8E7-01B-11D-A410-08 TCGA-VQ-A8E7-10B-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eafa019f-744e-4aae-9a03-529379a7d7f1 c4b3b43a-a766-4a0f-b4e5-9d2e7a8c3867 5 152873616 152873616 A G SNP GRIA1 ENST00000448073 human ensembl 74_37 +1 known missense c.241 p.T81A 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIA1 HGNC ENSG00000155511 tier1 - - 113 0 0.00 55 20 26.67 HCN1 0 genome.wustl.edu 37 5 45396611 45396611 + Missense_Mutation SNP G G A TCGA-VQ-A8E7-01B-11D-A410-08 TCGA-VQ-A8E7-10B-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eafa019f-744e-4aae-9a03-529379a7d7f1 c4b3b43a-a766-4a0f-b4e5-9d2e7a8c3867 5 45396611 45396611 G A SNP HCN1 ENST00000303230 human ensembl 74_37 -1 known missense c.1213 p.R405W 0.924 superfamily_cNMP-bd-like pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG - no_errors HCN1 HGNC ENSG00000164588 tier1 - - 32 0 0.00 20 9 31.03 HSPA4L 0 genome.wustl.edu 37 4 128751797 128751797 + Frame_Shift_Del DEL A A - TCGA-VQ-A8E7-01B-11D-A410-08 TCGA-VQ-A8E7-10B-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eafa019f-744e-4aae-9a03-529379a7d7f1 c4b3b43a-a766-4a0f-b4e5-9d2e7a8c3867 4 128751797 128751797 A - DEL HSPA4L ENST00000439123 human ensembl 74_37 +1 known frame_shift_del c.2264 p.R756fs 1.000 NULL pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA4L HGNC ENSG00000164070 tier1 41 0 0.00 26 12 31.58 IL16 0 genome.wustl.edu 37 15 81592162 81592164 + In_Frame_Del DEL CCT CCT - TCGA-VQ-A8E7-01B-11D-A410-08 TCGA-VQ-A8E7-10B-01D-A413-08 CCT CCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eafa019f-744e-4aae-9a03-529379a7d7f1 c4b3b43a-a766-4a0f-b4e5-9d2e7a8c3867 15 81592162 81592164 CCT - DEL IL16 ENST00000302987 human ensembl 74_37 +1 known in_frame_del c.2495_2497 p.S836in_frame_del 0.001:0.004:0.009 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,prints_IL-16 - no_errors IL16 HGNC ENSG00000172349 tier1 36 0 0.00 21 3 12.50 INSR 0 genome.wustl.edu 37 19 7184578 7184578 + Silent SNP G G T TCGA-VQ-A8E7-01B-11D-A410-08 TCGA-VQ-A8E7-10B-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eafa019f-744e-4aae-9a03-529379a7d7f1 c4b3b43a-a766-4a0f-b4e5-9d2e7a8c3867 19 7184578 7184578 G T SNP INSR ENST00000302850 human ensembl 74_37 -1 known silent c.723 p.G241 1.000 pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Furin-like_Cys-rich_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom - no_errors INSR HGNC ENSG00000171105 tier1 - - 29 0 0.00 14 24 63.16 IRAK3 0 genome.wustl.edu 37 12 66603948 66603948 + Missense_Mutation SNP G G C TCGA-VQ-A8E7-01B-11D-A410-08 TCGA-VQ-A8E7-10B-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eafa019f-744e-4aae-9a03-529379a7d7f1 c4b3b43a-a766-4a0f-b4e5-9d2e7a8c3867 12 66603948 66603948 G C SNP IRAK3 ENST00000261233 human ensembl 74_37 +1 known missense c.403 p.D135H 0.887 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death_domain,superfamily_Kinase-like_dom,superfamily_DEATH-like_dom,smart_Death_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Death_domain,pfscan_Prot_kinase_dom - no_errors IRAK3 HGNC ENSG00000090376 tier1 - - 75 0 0.00 44 13 22.81 KCNG1 0 genome.wustl.edu 37 20 49620786 49620786 + Missense_Mutation SNP G G T TCGA-VQ-A8E7-01B-11D-A410-08 TCGA-VQ-A8E7-10B-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eafa019f-744e-4aae-9a03-529379a7d7f1 c4b3b43a-a766-4a0f-b4e5-9d2e7a8c3867 20 49620786 49620786 G T SNP KCNG1 ENST00000371571 human ensembl 74_37 -1 known missense c.1332 p.S444R 1.000 pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCNG1 HGNC ENSG00000026559 tier1 - - 106 0 0.00 55 23 29.49 KDELC1 0 genome.wustl.edu 37 13 103446078 103446078 + Missense_Mutation SNP G G A TCGA-VQ-A8E7-01B-11D-A410-08 TCGA-VQ-A8E7-10B-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eafa019f-744e-4aae-9a03-529379a7d7f1 c4b3b43a-a766-4a0f-b4e5-9d2e7a8c3867 13 103446078 103446078 G A SNP KDELC1 ENST00000376004 human ensembl 74_37 -1 known missense c.467 p.T156I 0.073 pfam_LipoPS_modifying pfam_LipoPS_modifying,pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,smart_LipoPS_modifying,pfscan_Filamin/ABP280_repeat-like - no_errors KDELC1 HGNC ENSG00000134901 tier1 - - 156 0 0.00 77 79 50.64 KIAA1551 0 genome.wustl.edu 37 12 32138853 32138853 + Missense_Mutation SNP T T C TCGA-VQ-A8E7-01B-11D-A410-08 TCGA-VQ-A8E7-10B-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eafa019f-744e-4aae-9a03-529379a7d7f1 c4b3b43a-a766-4a0f-b4e5-9d2e7a8c3867 12 32138853 32138853 T C SNP KIAA1551 ENST00000312561 human ensembl 74_37 +1 known missense c.4964 p.V1655A 0.000 NULL NULL - no_errors KIAA1551 HGNC ENSG00000174718 tier1 - - 61 0 0.00 54 23 29.87 KIF11 0 genome.wustl.edu 37 10 94372845 94372845 + Silent SNP G G A TCGA-VQ-A8E7-01B-11D-A410-08 TCGA-VQ-A8E7-10B-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eafa019f-744e-4aae-9a03-529379a7d7f1 c4b3b43a-a766-4a0f-b4e5-9d2e7a8c3867 10 94372845 94372845 G A SNP KIF11 ENST00000260731 human ensembl 74_37 +1 known silent c.747 p.T249 0.547 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF11 HGNC ENSG00000138160 tier1 - - 38 0 0.00 21 6 22.22 KLK8 0 genome.wustl.edu 37 19 51499358 51499358 + Missense_Mutation SNP C C T TCGA-VQ-A8E7-01B-11D-A410-08 TCGA-VQ-A8E7-10B-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eafa019f-744e-4aae-9a03-529379a7d7f1 c4b3b43a-a766-4a0f-b4e5-9d2e7a8c3867 19 51499358 51499358 C T SNP KLK8 ENST00000391806 human ensembl 74_37 -1 known missense c.875 p.R292H 1.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors KLK8 HGNC ENSG00000129455 tier1 - - 232 0 0.00 155 75 32.61 LIG4 0 genome.wustl.edu 37 13 108861460 108861460 + Missense_Mutation SNP A A T TCGA-VQ-A8E7-01B-11D-A410-08 TCGA-VQ-A8E7-10B-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eafa019f-744e-4aae-9a03-529379a7d7f1 c4b3b43a-a766-4a0f-b4e5-9d2e7a8c3867 13 108861460 108861460 A T SNP LIG4 ENST00000356922 human ensembl 74_37 -1 known missense c.2157 p.D719E 1.000 pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_DNA_ligase_IV,pfam_BRCT_dom,pfam_DNA_ligase_ATP-dep_C,superfamily_NA-bd_OB-fold,superfamily_BRCT_dom,superfamily_DNA_ligase_ATP-dep_N,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep - no_errors LIG4 HGNC ENSG00000174405 tier1 - - 105 0 0.00 84 15 15.15 LRRC15 0 genome.wustl.edu 37 3 194080742 194080742 + Missense_Mutation SNP C C T TCGA-VQ-A8E7-01B-11D-A410-08 TCGA-VQ-A8E7-10B-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eafa019f-744e-4aae-9a03-529379a7d7f1 c4b3b43a-a766-4a0f-b4e5-9d2e7a8c3867 3 194080742 194080742 C T SNP LRRC15 ENST00000439944 human ensembl 74_37 -1 known missense c.1049 p.R350Q 0.988 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRRC15 HGNC ENSG00000172061 tier1 - - 33 0 0.00 24 13 35.14 LRRC52 0 genome.wustl.edu 37 1 165532959 165532959 + Silent SNP G G A TCGA-VQ-A8E7-01B-11D-A410-08 TCGA-VQ-A8E7-10B-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eafa019f-744e-4aae-9a03-529379a7d7f1 c4b3b43a-a766-4a0f-b4e5-9d2e7a8c3867 1 165532959 165532959 G A SNP LRRC52 ENST00000294818 human ensembl 74_37 +1 known silent c.840 p.S280 0.579 NULL pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC52 HGNC ENSG00000162763 tier1 - - 61 0 0.00 40 18 31.03 MALAT1 0 genome.wustl.edu 37 11 65270090 65270091 + RNA INS - - T TCGA-VQ-A8E7-01B-11D-A410-08 TCGA-VQ-A8E7-10B-01D-A413-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eafa019f-744e-4aae-9a03-529379a7d7f1 c4b3b43a-a766-4a0f-b4e5-9d2e7a8c3867 11 65270090 65270091 - T INS MALAT1 ENST00000534336 human ensembl 74_37 +1 known rna NULL NULL 0.929:0.911 - - - no_errors MALAT1 HGNC ENSG00000251562 tier1 41 0 0.00 31 2 6.06 MAP3K8 0 genome.wustl.edu 37 10 30748197 30748197 + Missense_Mutation SNP C C T TCGA-VQ-A8E7-01B-11D-A410-08 TCGA-VQ-A8E7-10B-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eafa019f-744e-4aae-9a03-529379a7d7f1 c4b3b43a-a766-4a0f-b4e5-9d2e7a8c3867 10 30748197 30748197 C T SNP MAP3K8 ENST00000263056 human ensembl 74_37 +1 known missense c.1040 p.A347V 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP3K8 HGNC ENSG00000107968 tier1 - - 72 0 0.00 38 21 35.59 MEFV 0 genome.wustl.edu 37 16 3304457 3304457 + Missense_Mutation SNP C C T TCGA-VQ-A8E7-01B-11D-A410-08 TCGA-VQ-A8E7-10B-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eafa019f-744e-4aae-9a03-529379a7d7f1 c4b3b43a-a766-4a0f-b4e5-9d2e7a8c3867 16 3304457 3304457 C T SNP MEFV ENST00000219596 human ensembl 74_37 -1 known missense c.611 p.R204H 0.997 NULL pfam_DAPIN,pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,superfamily_DEATH-like_dom,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_DAPIN,pfscan_Znf_B-box,prints_Butyrophylin - no_errors MEFV HGNC ENSG00000103313 tier1 - - 27 0 0.00 18 10 35.71 MRPL14 0 genome.wustl.edu 37 6 44081807 44081807 + Missense_Mutation SNP C C A TCGA-VQ-A8E7-01B-11D-A410-08 TCGA-VQ-A8E7-10B-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eafa019f-744e-4aae-9a03-529379a7d7f1 c4b3b43a-a766-4a0f-b4e5-9d2e7a8c3867 6 44081807 44081807 C A SNP MRPL14 ENST00000372014 human ensembl 74_37 -1 known missense c.211 p.D71Y 1.000 pfam_Ribosomal_L14b/L23e,superfamily_Ribosomal_L14_dom pfam_Ribosomal_L14b/L23e,superfamily_Ribosomal_L14_dom - no_errors MRPL14 HGNC ENSG00000180992 tier1 - - 344 0 0.00 190 89 31.90 MUC16 0 genome.wustl.edu 37 19 9008320 9008320 + Missense_Mutation SNP C C G TCGA-VQ-A8E7-01B-11D-A410-08 TCGA-VQ-A8E7-10B-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eafa019f-744e-4aae-9a03-529379a7d7f1 c4b3b43a-a766-4a0f-b4e5-9d2e7a8c3867 19 9008320 9008320 C G SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.39232 p.G13078R 0.000 pfam_SEA_dom,smart_SEA_dom pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 142 0 0.00 142 35 19.77 MUC16 0 genome.wustl.edu 37 19 9088475 9088475 + Missense_Mutation SNP T T G TCGA-VQ-A8E7-01B-11D-A410-08 TCGA-VQ-A8E7-10B-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eafa019f-744e-4aae-9a03-529379a7d7f1 c4b3b43a-a766-4a0f-b4e5-9d2e7a8c3867 19 9088475 9088475 T G SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.3340 p.T1114P 0.002 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 61 0 0.00 59 20 25.32 MUTYH 0 genome.wustl.edu 37 1 45799135 45799135 + Missense_Mutation SNP G G T TCGA-VQ-A8E7-01B-11D-A410-08 TCGA-VQ-A8E7-10B-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eafa019f-744e-4aae-9a03-529379a7d7f1 c4b3b43a-a766-4a0f-b4e5-9d2e7a8c3867 1 45799135 45799135 G T SNP MUTYH ENST00000450313 human ensembl 74_37 -1 known missense c.298 p.L100M 0.391 superfamily_DNA_glycosylase pfam_HhH-GPD_domain,superfamily_DNA_glycosylase,superfamily_NUDIX_hydrolase_dom-like,smart_HhH-GPD_domain,smart_Endouclease3_FeS-loop_motif - no_errors MUTYH HGNC ENSG00000132781 tier1 - - 59 0 0.00 49 18 26.87 MUTYH 0 genome.wustl.edu 37 1 45799208 45799208 + Silent SNP C C T TCGA-VQ-A8E7-01B-11D-A410-08 TCGA-VQ-A8E7-10B-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eafa019f-744e-4aae-9a03-529379a7d7f1 c4b3b43a-a766-4a0f-b4e5-9d2e7a8c3867 1 45799208 45799208 C T SNP MUTYH ENST00000450313 human ensembl 74_37 -1 known silent c.225 p.V75 0.001 NULL pfam_HhH-GPD_domain,superfamily_DNA_glycosylase,superfamily_NUDIX_hydrolase_dom-like,smart_HhH-GPD_domain,smart_Endouclease3_FeS-loop_motif - no_errors MUTYH HGNC ENSG00000132781 tier1 - - 47 0 0.00 35 16 31.37 NCOR1P1 0 genome.wustl.edu 37 20 26094649 26094650 + RNA DEL TG TG - TCGA-VQ-A8E7-01B-11D-A410-08 TCGA-VQ-A8E7-10B-01D-A413-08 TG TG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eafa019f-744e-4aae-9a03-529379a7d7f1 c4b3b43a-a766-4a0f-b4e5-9d2e7a8c3867 20 26094649 26094650 TG - DEL NCOR1P1 ENST00000478176 human ensembl 74_37 -1 known rna NULL NULL 0.983:0.997 - - - no_errors NCOR1P1 HGNC ENSG00000240108 tier1 12 0 0.00 6 3 33.33 NOV 0 genome.wustl.edu 37 8 120429036 120429036 + Missense_Mutation SNP C C A TCGA-VQ-A8E7-01B-11D-A410-08 TCGA-VQ-A8E7-10B-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eafa019f-744e-4aae-9a03-529379a7d7f1 c4b3b43a-a766-4a0f-b4e5-9d2e7a8c3867 8 120429036 120429036 C A SNP NOV ENST00000259526 human ensembl 74_37 +1 known missense c.137 p.T46K 0.002 pfam_IGFBP-like,smart_IGFBP-like,pirsf_IGFBP_CNN pfam_IGFBP-like,pfam_Cys_knot,pfam_VWF_C,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_IGFBP-like,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_Cys_knot_C,pirsf_IGFBP_CNN,pfscan_Cys_knot_C,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C - no_errors NOV HGNC ENSG00000136999 tier1 - - 10 0 0.00 11 16 57.14 OR4D5 0 genome.wustl.edu 37 11 123810613 123810613 + Missense_Mutation SNP G G A TCGA-VQ-A8E7-01B-11D-A410-08 TCGA-VQ-A8E7-10B-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eafa019f-744e-4aae-9a03-529379a7d7f1 c4b3b43a-a766-4a0f-b4e5-9d2e7a8c3867 11 123810613 123810613 G A SNP OR4D5 ENST00000307033 human ensembl 74_37 +1 known missense c.290 p.C97Y 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4D5 HGNC ENSG00000171014 tier1 - - 89 0 0.00 94 5 5.05 OSBP 0 genome.wustl.edu 37 11 59344377 59344377 + Missense_Mutation SNP G G A TCGA-VQ-A8E7-01B-11D-A410-08 TCGA-VQ-A8E7-10B-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eafa019f-744e-4aae-9a03-529379a7d7f1 c4b3b43a-a766-4a0f-b4e5-9d2e7a8c3867 11 59344377 59344377 G A SNP OSBP ENST00000263847 human ensembl 74_37 -1 known missense c.2182 p.R728C 1.000 pfam_Oxysterol-bd pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBP HGNC ENSG00000110048 tier1 - - 216 0 0.00 86 61 41.50 OSBP2 0 genome.wustl.edu 37 22 31285580 31285580 + Missense_Mutation SNP T T C TCGA-VQ-A8E7-01B-11D-A410-08 TCGA-VQ-A8E7-10B-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eafa019f-744e-4aae-9a03-529379a7d7f1 c4b3b43a-a766-4a0f-b4e5-9d2e7a8c3867 22 31285580 31285580 T C SNP OSBP2 ENST00000332585 human ensembl 74_37 +1 known missense c.1580 p.M527T 1.000 pfam_Oxysterol-bd pfam_Oxysterol-bd,pfam_Pleckstrin_homology,superfamily_DNA-bd_dom_put,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBP2 HGNC ENSG00000184792 tier1 - - 170 0 0.00 40 86 68.25 PARP4 0 genome.wustl.edu 37 13 25043207 25043207 + Silent SNP G G A TCGA-VQ-A8E7-01B-11D-A410-08 TCGA-VQ-A8E7-10B-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eafa019f-744e-4aae-9a03-529379a7d7f1 c4b3b43a-a766-4a0f-b4e5-9d2e7a8c3867 13 25043207 25043207 G A SNP PARP4 ENST00000381989 human ensembl 74_37 -1 known silent c.2088 p.A696 0.921 pfam_VIT,smart_VIT pfam_Poly(ADP-ribose)pol_cat_dom,pfam_VIT,pfam_VWF_A,pfam_BRCT_dom,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_BRCT_dom,smart_BRCT_dom,smart_VIT,smart_VWF_A,pfscan_BRCT_dom,pfscan_VWF_A,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom - no_errors PARP4 HGNC ENSG00000102699 tier1 rs116339023 - 87 0 0.00 116 9 7.20 PAX1 0 genome.wustl.edu 37 20 21690006 21690006 + Silent SNP G G A TCGA-VQ-A8E7-01B-11D-A410-08 TCGA-VQ-A8E7-10B-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eafa019f-744e-4aae-9a03-529379a7d7f1 c4b3b43a-a766-4a0f-b4e5-9d2e7a8c3867 20 21690006 21690006 G A SNP PAX1 ENST00000398485 human ensembl 74_37 +1 known silent c.1206 p.A402 0.988 NULL pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX1 HGNC ENSG00000125813 tier1 - - 31 0 0.00 15 5 25.00 PAX3 0 genome.wustl.edu 37 2 223086085 223086085 + Missense_Mutation SNP C C T TCGA-VQ-A8E7-01B-11D-A410-08 TCGA-VQ-A8E7-10B-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eafa019f-744e-4aae-9a03-529379a7d7f1 c4b3b43a-a766-4a0f-b4e5-9d2e7a8c3867 2 223086085 223086085 C T SNP PAX3 ENST00000392069 human ensembl 74_37 -1 known missense c.814 p.A272T 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Paired_dom,pfam_Pax7,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX3 HGNC ENSG00000135903 tier1 - - 163 0 0.00 70 80 53.33 PCDH18 0 genome.wustl.edu 37 4 138451620 138451620 + Silent SNP G G A TCGA-VQ-A8E7-01B-11D-A410-08 TCGA-VQ-A8E7-10B-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eafa019f-744e-4aae-9a03-529379a7d7f1 c4b3b43a-a766-4a0f-b4e5-9d2e7a8c3867 4 138451620 138451620 G A SNP PCDH18 ENST00000344876 human ensembl 74_37 -1 known silent c.1623 p.I541 0.977 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 tier1 - - 158 0 0.00 122 23 15.86 PCDHA9 0 genome.wustl.edu 37 5 140230065 140230065 + Missense_Mutation SNP C C T TCGA-VQ-A8E7-01B-11D-A410-08 TCGA-VQ-A8E7-10B-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eafa019f-744e-4aae-9a03-529379a7d7f1 c4b3b43a-a766-4a0f-b4e5-9d2e7a8c3867 5 140230065 140230065 C T SNP PCDHA9 ENST00000532602 human ensembl 74_37 +1 known missense c.1985 p.T662M 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA9 HGNC ENSG00000204961 tier1 - - 85 0 0.00 64 28 30.43 PDPN 0 genome.wustl.edu 37 1 13940884 13940884 + Nonsense_Mutation SNP C C T TCGA-VQ-A8E7-01B-11D-A410-08 TCGA-VQ-A8E7-10B-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eafa019f-744e-4aae-9a03-529379a7d7f1 c4b3b43a-a766-4a0f-b4e5-9d2e7a8c3867 1 13940884 13940884 C T SNP PDPN ENST00000294489 human ensembl 74_37 +1 known nonsense c.688 p.R230* 0.035 pfam_Podoplanin pfam_Podoplanin - no_errors PDPN HGNC ENSG00000162493 tier1 - - 90 0 0.00 79 32 28.83 PKP4 0 genome.wustl.edu 37 2 159389814 159389814 + Missense_Mutation SNP T T G TCGA-VQ-A8E7-01B-11D-A410-08 TCGA-VQ-A8E7-10B-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eafa019f-744e-4aae-9a03-529379a7d7f1 c4b3b43a-a766-4a0f-b4e5-9d2e7a8c3867 2 159389814 159389814 T G SNP PKP4 ENST00000389759 human ensembl 74_37 +1 known missense c.118 p.S40A 1.000 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors PKP4 HGNC ENSG00000144283 tier1 - - 46 0 0.00 5 14 73.68 PLEKHA5 0 genome.wustl.edu 37 12 19514517 19514518 + Frame_Shift_Ins INS - - A TCGA-VQ-A8E7-01B-11D-A410-08 TCGA-VQ-A8E7-10B-01D-A413-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eafa019f-744e-4aae-9a03-529379a7d7f1 c4b3b43a-a766-4a0f-b4e5-9d2e7a8c3867 12 19514517 19514518 - A INS PLEKHA5 ENST00000317589 human ensembl 74_37 +1 known frame_shift_ins c.3176_3177 p.T1062fs 0.379:0.273 NULL pfam_Pleckstrin_homology,superfamily_WW_dom,smart_WW_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_WW_dom - no_errors PLEKHA5 HGNC ENSG00000052126 tier1 36 0 0.00 28 3 9.68 POT1 0 genome.wustl.edu 37 7 124493077 124493077 + Missense_Mutation SNP C C T TCGA-VQ-A8E7-01B-11D-A410-08 TCGA-VQ-A8E7-10B-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eafa019f-744e-4aae-9a03-529379a7d7f1 c4b3b43a-a766-4a0f-b4e5-9d2e7a8c3867 7 124493077 124493077 C T SNP POT1 ENST00000357628 human ensembl 74_37 -1 known missense c.818 p.R273Q 1.000 superfamily_NA-bd_OB-fold pfam_Telomer_end-bd_POT1/Cdc13,superfamily_NA-bd_OB-fold,smart_Telomer_end-bd_POT1/Cdc13 - no_errors POT1 HGNC ENSG00000128513 tier1 - - 72 0 0.00 44 24 35.29 PPIB 0 genome.wustl.edu 37 15 64454344 64454345 + Frame_Shift_Ins INS - - A TCGA-VQ-A8E7-01B-11D-A410-08 TCGA-VQ-A8E7-10B-01D-A413-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eafa019f-744e-4aae-9a03-529379a7d7f1 c4b3b43a-a766-4a0f-b4e5-9d2e7a8c3867 15 64454344 64454345 - A INS PPIB ENST00000300026 human ensembl 74_37 -1 known frame_shift_ins c.145_144 p.D48fs 1.000:0.960 superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors PPIB HGNC ENSG00000166794 tier1 154 0 0.00 131 47 26.40 PPL 0 genome.wustl.edu 37 16 4935104 4935104 + Silent SNP C C T TCGA-VQ-A8E7-01B-11D-A410-08 TCGA-VQ-A8E7-10B-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eafa019f-744e-4aae-9a03-529379a7d7f1 c4b3b43a-a766-4a0f-b4e5-9d2e7a8c3867 16 4935104 4935104 C T SNP PPL ENST00000345988 human ensembl 74_37 -1 known silent c.3552 p.A1184 0.051 NULL pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors PPL HGNC ENSG00000118898 tier1 - - 77 0 0.00 48 18 27.27 PRKAR1B 0 genome.wustl.edu 37 7 751068 751068 + Silent SNP G G A TCGA-VQ-A8E7-01B-11D-A410-08 TCGA-VQ-A8E7-10B-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eafa019f-744e-4aae-9a03-529379a7d7f1 c4b3b43a-a766-4a0f-b4e5-9d2e7a8c3867 7 751068 751068 G A SNP PRKAR1B ENST00000360274 human ensembl 74_37 -1 known silent c.75 p.H25 0.997 pfam_cAMP_dep_PK_reg_su_I/II_a/b,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,smart_cAMP_dep_PK_reg_su_I/II_a/b,pirsf_cAMP_dep_PK_reg_su pfam_cNMP-bd_dom,pfam_cAMP_dep_PK_reg_su_I/II_a/b,superfamily_cNMP-bd-like,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,smart_cAMP_dep_PK_reg_su_I/II_a/b,smart_cNMP-bd_dom,pirsf_cAMP_dep_PK_reg_su,pfscan_cNMP-bd_dom,prints_cAMP/cGMP_kin - no_errors PRKAR1B HGNC ENSG00000188191 tier1 - - 84 0 0.00 64 28 30.43 PROX1 0 genome.wustl.edu 37 1 214170743 214170743 + Missense_Mutation SNP C C G TCGA-VQ-A8E7-01B-11D-A410-08 TCGA-VQ-A8E7-10B-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eafa019f-744e-4aae-9a03-529379a7d7f1 c4b3b43a-a766-4a0f-b4e5-9d2e7a8c3867 1 214170743 214170743 C G SNP PROX1 ENST00000261454 human ensembl 74_37 +1 known missense c.865 p.Q289E 1.000 pfam_Homeo_prospero_dom pfam_Homeo_prospero_dom,superfamily_Homeodomain-like - no_errors PROX1 HGNC ENSG00000117707 tier1 - - 70 0 0.00 46 35 43.21 PSKH2 0 genome.wustl.edu 37 8 87081687 87081687 + Silent SNP G G A TCGA-VQ-A8E7-01B-11D-A410-08 TCGA-VQ-A8E7-10B-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eafa019f-744e-4aae-9a03-529379a7d7f1 c4b3b43a-a766-4a0f-b4e5-9d2e7a8c3867 8 87081687 87081687 G A SNP PSKH2 ENST00000276616 human ensembl 74_37 -1 known silent c.165 p.F55 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors PSKH2 HGNC ENSG00000147613 tier1 - - 14 0 0.00 13 7 35.00 PTCHD2 0 genome.wustl.edu 37 1 11561543 11561543 + Missense_Mutation SNP C C T TCGA-VQ-A8E7-01B-11D-A410-08 TCGA-VQ-A8E7-10B-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eafa019f-744e-4aae-9a03-529379a7d7f1 c4b3b43a-a766-4a0f-b4e5-9d2e7a8c3867 1 11561543 11561543 C T SNP PTCHD2 ENST00000294484 human ensembl 74_37 +1 known missense c.494 p.S165L 0.977 NULL pfam_Patched,pfam_MMPL_dom,pfscan_SSD - no_errors PTCHD2 HGNC ENSG00000204624 tier1 - - 29 0 0.00 17 18 51.43 PTGDS 0 genome.wustl.edu 37 9 139872102 139872102 + Silent SNP G G A TCGA-VQ-A8E7-01B-11D-A410-08 TCGA-VQ-A8E7-10B-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eafa019f-744e-4aae-9a03-529379a7d7f1 c4b3b43a-a766-4a0f-b4e5-9d2e7a8c3867 9 139872102 139872102 G A SNP PTGDS ENST00000224167 human ensembl 74_37 +1 known silent c.72 p.P24 0.595 NULL pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_PstgldnD_synth - no_errors PTGDS HGNC ENSG00000107317 tier1 - - 25 0 0.00 15 7 31.82 PTPRU 0 genome.wustl.edu 37 1 29641898 29641898 + Missense_Mutation SNP G G A TCGA-VQ-A8E7-01B-11D-A410-08 TCGA-VQ-A8E7-10B-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eafa019f-744e-4aae-9a03-529379a7d7f1 c4b3b43a-a766-4a0f-b4e5-9d2e7a8c3867 1 29641898 29641898 G A SNP PTPRU ENST00000345512 human ensembl 74_37 +1 known missense c.3272 p.R1091H 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRU HGNC ENSG00000060656 tier1 - - 54 0 0.00 36 25 40.98 RAPGEF5 0 genome.wustl.edu 37 7 22184668 22184668 + Missense_Mutation SNP G G A TCGA-VQ-A8E7-01B-11D-A410-08 TCGA-VQ-A8E7-10B-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eafa019f-744e-4aae-9a03-529379a7d7f1 c4b3b43a-a766-4a0f-b4e5-9d2e7a8c3867 7 22184668 22184668 G A SNP RAPGEF5 ENST00000344041 human ensembl 74_37 -1 known missense c.1721 p.A574V 1.000 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RAPGEF5 HGNC ENSG00000136237 20 0 0.00 31 5 13.89 RBM25 0 genome.wustl.edu 37 14 73572607 73572608 + Frame_Shift_Del DEL AG AG - TCGA-VQ-A8E7-01B-11D-A410-08 TCGA-VQ-A8E7-10B-01D-A413-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eafa019f-744e-4aae-9a03-529379a7d7f1 c4b3b43a-a766-4a0f-b4e5-9d2e7a8c3867 14 73572607 73572608 AG - DEL RBM25 ENST00000261973 human ensembl 74_37 +1 known frame_shift_del c.1195_1196 p.E402fs 0.998:1.000 NULL pfam_PWI_dom,pfam_RRM_dom,superfamily_PWI_dom,smart_RRM_dom,smart_PWI_dom,pfscan_RRM_dom - no_errors RBM25 HGNC ENSG00000119707 tier1 36 0 0.00 28 4 12.50 RFTN1 0 genome.wustl.edu 37 3 16399520 16399520 + Silent SNP G G T TCGA-VQ-A8E7-01B-11D-A410-08 TCGA-VQ-A8E7-10B-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eafa019f-744e-4aae-9a03-529379a7d7f1 c4b3b43a-a766-4a0f-b4e5-9d2e7a8c3867 3 16399520 16399520 G T SNP RFTN1 ENST00000334133 human ensembl 74_37 -1 known silent c.1065 p.I355 1.000 NULL NULL - no_errors RFTN1 HGNC ENSG00000131378 tier1 - - 140 0 0.00 48 34 41.46 RGPD8 0 genome.wustl.edu 37 2 113147766 113147766 + Missense_Mutation SNP G G A TCGA-VQ-A8E7-01B-11D-A410-08 TCGA-VQ-A8E7-10B-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eafa019f-744e-4aae-9a03-529379a7d7f1 c4b3b43a-a766-4a0f-b4e5-9d2e7a8c3867 2 113147766 113147766 G A SNP RGPD8 ENST00000302558 human ensembl 74_37 -1 known missense c.2756 p.A919V 1.000 NULL pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD8 HGNC ENSG00000169629 tier1 - - 117 0 0.00 87 46 34.59 RPGRIP1 0 genome.wustl.edu 37 14 21795819 21795819 + Silent SNP C C T TCGA-VQ-A8E7-01B-11D-A410-08 TCGA-VQ-A8E7-10B-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eafa019f-744e-4aae-9a03-529379a7d7f1 c4b3b43a-a766-4a0f-b4e5-9d2e7a8c3867 14 21795819 21795819 C T SNP RPGRIP1 ENST00000206660 human ensembl 74_37 +1 known silent c.2748 p.N916 1.000 superfamily_C2_dom pfam_DUF3250,superfamily_C2_dom - no_errors RPGRIP1 HGNC ENSG00000092200 tier1 - - 64 0 0.00 38 29 43.28 RPTOR 0 genome.wustl.edu 37 17 78938109 78938109 + Silent SNP G G A TCGA-VQ-A8E7-01B-11D-A410-08 TCGA-VQ-A8E7-10B-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eafa019f-744e-4aae-9a03-529379a7d7f1 c4b3b43a-a766-4a0f-b4e5-9d2e7a8c3867 17 78938109 78938109 G A SNP RPTOR ENST00000306801 human ensembl 74_37 +1 known silent c.3987 p.S1329 0.231 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_HEAT,pfam_WD40_repeat,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom,prints_Raptor - no_errors RPTOR HGNC ENSG00000141564 tier1 - - 61 0 0.00 22 30 57.69 RRP36 0 genome.wustl.edu 37 6 42996954 42996954 + Missense_Mutation SNP G G C TCGA-VQ-A8E7-01B-11D-A410-08 TCGA-VQ-A8E7-10B-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eafa019f-744e-4aae-9a03-529379a7d7f1 c4b3b43a-a766-4a0f-b4e5-9d2e7a8c3867 6 42996954 42996954 G C SNP RRP36 ENST00000244496 human ensembl 74_37 +1 known missense c.768 p.L256F 0.986 NULL pfam_DUF947 - no_errors RRP36 HGNC ENSG00000124541 tier1 - - 74 0 0.00 62 29 31.52 RUNDC3B 0 genome.wustl.edu 37 7 87329803 87329803 + Missense_Mutation SNP G G A TCGA-VQ-A8E7-01B-11D-A410-08 TCGA-VQ-A8E7-10B-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eafa019f-744e-4aae-9a03-529379a7d7f1 c4b3b43a-a766-4a0f-b4e5-9d2e7a8c3867 7 87329803 87329803 G A SNP RUNDC3B ENST00000338056 human ensembl 74_37 +1 known missense c.356 p.R119Q 1.000 pfam_Run,pfscan_Run pfam_Run,smart_Run,pfscan_Run - no_errors RUNDC3B HGNC ENSG00000105784 tier1 - - 60 0 0.00 37 32 44.44 SACS 0 genome.wustl.edu 37 13 23929460 23929460 + Missense_Mutation SNP C C A TCGA-VQ-A8E7-01B-11D-A410-08 TCGA-VQ-A8E7-10B-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eafa019f-744e-4aae-9a03-529379a7d7f1 c4b3b43a-a766-4a0f-b4e5-9d2e7a8c3867 13 23929460 23929460 C A SNP SACS ENST00000382292 human ensembl 74_37 -1 known missense c.1291 p.D431Y 0.035 NULL pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup - no_errors SACS HGNC ENSG00000151835 tier1 - - 61 0 0.00 51 23 31.08 SCUBE2 0 genome.wustl.edu 37 11 9069635 9069635 + Missense_Mutation SNP G G C TCGA-VQ-A8E7-01B-11D-A410-08 TCGA-VQ-A8E7-10B-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eafa019f-744e-4aae-9a03-529379a7d7f1 c4b3b43a-a766-4a0f-b4e5-9d2e7a8c3867 11 9069635 9069635 G C SNP SCUBE2 ENST00000457346 human ensembl 74_37 -1 known missense c.1650 p.S550R 1.000 NULL pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors SCUBE2 HGNC ENSG00000175356 tier1 - - 246 0 0.00 56 55 49.55 SEC31B 0 genome.wustl.edu 37 10 102249884 102249884 + Missense_Mutation SNP C C T TCGA-VQ-A8E7-01B-11D-A410-08 TCGA-VQ-A8E7-10B-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eafa019f-744e-4aae-9a03-529379a7d7f1 c4b3b43a-a766-4a0f-b4e5-9d2e7a8c3867 10 102249884 102249884 C T SNP SEC31B ENST00000370345 human ensembl 74_37 -1 known missense c.2846 p.R949H 0.002 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors SEC31B HGNC ENSG00000075826 tier1 - - 91 0 0.00 60 26 30.23 SEMA4A 0 genome.wustl.edu 37 1 156145414 156145414 + Frame_Shift_Del DEL A A - TCGA-VQ-A8E7-01B-11D-A410-08 TCGA-VQ-A8E7-10B-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eafa019f-744e-4aae-9a03-529379a7d7f1 c4b3b43a-a766-4a0f-b4e5-9d2e7a8c3867 1 156145414 156145414 A - DEL SEMA4A ENST00000355014 human ensembl 74_37 +1 known frame_shift_del c.1660 p.R554fs 0.980 NULL pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom - no_errors SEMA4A HGNC ENSG00000196189 tier1 17 0 0.00 13 2 13.33 SEMA4D 0 genome.wustl.edu 37 9 91996136 91996136 + Silent SNP C C T TCGA-VQ-A8E7-01B-11D-A410-08 TCGA-VQ-A8E7-10B-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eafa019f-744e-4aae-9a03-529379a7d7f1 c4b3b43a-a766-4a0f-b4e5-9d2e7a8c3867 9 91996136 91996136 C T SNP SEMA4D ENST00000356444 human ensembl 74_37 -1 known silent c.1572 p.P524 0.000 pfam_Plexin_repeat,superfamily_Plexin-like_fold,smart_Plexin-like_fold pfam_Semap_dom,pfam_Plexin_repeat,pfam_Immunoglobulin,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,smart_Ig_sub2,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA4D HGNC ENSG00000187764 tier1 rs142877769 - 31 0 0.00 25 13 34.21 SFMBT2 0 genome.wustl.edu 37 10 7218091 7218091 + Silent SNP G G A TCGA-VQ-A8E7-01B-11D-A410-08 TCGA-VQ-A8E7-10B-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eafa019f-744e-4aae-9a03-529379a7d7f1 c4b3b43a-a766-4a0f-b4e5-9d2e7a8c3867 10 7218091 7218091 G A SNP SFMBT2 ENST00000361972 human ensembl 74_37 -1 known silent c.1845 p.I615 0.255 pfam_DUF3588 pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_Pointed_dom,superfamily_SAM/pointed,superfamily_ARM-type_fold,smart_Mbt,smart_SAM,pfscan_Mbt - no_errors SFMBT2 HGNC ENSG00000198879 tier1 - - 111 0 0.00 75 30 28.57 SLC17A6 0 genome.wustl.edu 37 11 22399038 22399038 + Nonsense_Mutation SNP G G T TCGA-VQ-A8E7-01B-11D-A410-08 TCGA-VQ-A8E7-10B-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eafa019f-744e-4aae-9a03-529379a7d7f1 c4b3b43a-a766-4a0f-b4e5-9d2e7a8c3867 11 22399038 22399038 G T SNP SLC17A6 ENST00000263160 human ensembl 74_37 +1 known nonsense c.1501 p.E501* 1.000 superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A6 HGNC ENSG00000091664 tier1 - - 95 0 0.00 22 59 72.84 SLC2A14 0 genome.wustl.edu 37 12 7982594 7982594 + Nonsense_Mutation SNP G G C TCGA-VQ-A8E7-01B-11D-A410-08 TCGA-VQ-A8E7-10B-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eafa019f-744e-4aae-9a03-529379a7d7f1 c4b3b43a-a766-4a0f-b4e5-9d2e7a8c3867 12 7982594 7982594 G C SNP SLC2A14 ENST00000396589 human ensembl 74_37 -1 known nonsense c.350 p.S117* 1.000 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt pfam_Sub_transporter,pfam_MFS,pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,prints_Sugar/inositol_transpt,prints_Glc_transpt_3,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt - no_errors SLC2A14 HGNC ENSG00000173262 tier1 - - 43 0 0.00 32 16 33.33 SLC39A12-AS1 0 genome.wustl.edu 37 10 18292018 18292018 + RNA SNP G G T TCGA-VQ-A8E7-01B-11D-A410-08 TCGA-VQ-A8E7-10B-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eafa019f-744e-4aae-9a03-529379a7d7f1 c4b3b43a-a766-4a0f-b4e5-9d2e7a8c3867 10 18292018 18292018 G T SNP SLC39A12-AS1 ENST00000439319 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors SLC39A12-AS1 HGNC ENSG00000226083 tier1 - - 25 0 0.00 13 9 40.91 SLC52A2 0 genome.wustl.edu 37 8 145584501 145584501 + Missense_Mutation SNP C C T TCGA-VQ-A8E7-01B-11D-A410-08 TCGA-VQ-A8E7-10B-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eafa019f-744e-4aae-9a03-529379a7d7f1 c4b3b43a-a766-4a0f-b4e5-9d2e7a8c3867 8 145584501 145584501 C T SNP SLC52A2 ENST00000526752 human ensembl 74_37 +1 novel missense c.169 p.R57C 0.839 NULL NULL - no_errors SLC52A2 HGNC ENSG00000185803 tier1 - - 78 0 0.00 97 21 17.80 SNTB1 0 genome.wustl.edu 37 8 121644792 121644792 + Silent SNP G G A TCGA-VQ-A8E7-01B-11D-A410-08 TCGA-VQ-A8E7-10B-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eafa019f-744e-4aae-9a03-529379a7d7f1 c4b3b43a-a766-4a0f-b4e5-9d2e7a8c3867 8 121644792 121644792 G A SNP SNTB1 ENST00000395601 human ensembl 74_37 -1 known silent c.888 p.N296 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_PDZ,pfam_Pleckstrin_homology,superfamily_PDZ,smart_Pleckstrin_homology,smart_PDZ,pfscan_PDZ,pfscan_Pleckstrin_homology - no_errors SNTB1 HGNC ENSG00000172164 tier1 - - 64 0 0.00 47 26 35.62 SORBS2 0 genome.wustl.edu 37 4 186545154 186545154 + Missense_Mutation SNP C C T TCGA-VQ-A8E7-01B-11D-A410-08 TCGA-VQ-A8E7-10B-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eafa019f-744e-4aae-9a03-529379a7d7f1 c4b3b43a-a766-4a0f-b4e5-9d2e7a8c3867 4 186545154 186545154 C T SNP SORBS2 ENST00000284776 human ensembl 74_37 -1 known missense c.1417 p.V473M 0.998 NULL pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox - no_errors SORBS2 HGNC ENSG00000154556 tier1 - - 154 0 0.00 89 36 28.80 SPTA1 0 genome.wustl.edu 37 1 158614163 158614163 + Missense_Mutation SNP T T A TCGA-VQ-A8E7-01B-11D-A410-08 TCGA-VQ-A8E7-10B-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eafa019f-744e-4aae-9a03-529379a7d7f1 c4b3b43a-a766-4a0f-b4e5-9d2e7a8c3867 1 158614163 158614163 T A SNP SPTA1 ENST00000368147 human ensembl 74_37 -1 known missense c.4218 p.Q1406H 0.927 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SPTA1 HGNC ENSG00000163554 tier1 - - 75 0 0.00 56 19 25.33 SRD5A2 0 genome.wustl.edu 37 2 31805766 31805766 + RNA SNP C C T TCGA-VQ-A8E7-01B-11D-A410-08 TCGA-VQ-A8E7-10B-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eafa019f-744e-4aae-9a03-529379a7d7f1 c4b3b43a-a766-4a0f-b4e5-9d2e7a8c3867 2 31805766 31805766 C T SNP SRD5A2 ENST00000233139 human ensembl 74_37 -1 known rna NULL NULL 0.835 - - - no_errors SRD5A2 HGNC ENSG00000049319 tier1 - - 15 0 0.00 10 4 28.57 SSX5 0 genome.wustl.edu 37 X 48053630 48053630 + Missense_Mutation SNP C C T TCGA-VQ-A8E7-01B-11D-A410-08 TCGA-VQ-A8E7-10B-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eafa019f-744e-4aae-9a03-529379a7d7f1 c4b3b43a-a766-4a0f-b4e5-9d2e7a8c3867 X 48053630 48053630 C T SNP SSX5 ENST00000311798 human ensembl 74_37 -1 known missense c.338 p.R113H 0.000 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel pfam_SSXRD_motif,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors SSX5 HGNC ENSG00000165583 tier1 rs149409740 - 100 0 0.00 44 55 55.56 TAF1L 0 genome.wustl.edu 37 9 32631151 32631151 + Missense_Mutation SNP G G A TCGA-VQ-A8E7-01B-11D-A410-08 TCGA-VQ-A8E7-10B-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eafa019f-744e-4aae-9a03-529379a7d7f1 c4b3b43a-a766-4a0f-b4e5-9d2e7a8c3867 9 32631151 32631151 G A SNP TAF1L ENST00000242310 human ensembl 74_37 -1 known missense c.4427 p.A1476V 1.000 pirsf_TAF1_animal,pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1L HGNC ENSG00000122728 tier1 - - 218 0 0.00 130 66 33.50 TMEM132D 0 genome.wustl.edu 37 12 130184687 130184687 + Missense_Mutation SNP C C A TCGA-VQ-A8E7-01B-11D-A410-08 TCGA-VQ-A8E7-10B-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eafa019f-744e-4aae-9a03-529379a7d7f1 c4b3b43a-a766-4a0f-b4e5-9d2e7a8c3867 12 130184687 130184687 C A SNP TMEM132D ENST00000422113 human ensembl 74_37 -1 known missense c.636 p.R212S 0.565 NULL NULL - no_errors TMEM132D HGNC ENSG00000151952 tier1 - - 40 0 0.00 23 23 50.00 TMEM169 0 genome.wustl.edu 37 2 216964917 216964917 + Silent SNP C C T TCGA-VQ-A8E7-01B-11D-A410-08 TCGA-VQ-A8E7-10B-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eafa019f-744e-4aae-9a03-529379a7d7f1 c4b3b43a-a766-4a0f-b4e5-9d2e7a8c3867 2 216964917 216964917 C T SNP TMEM169 ENST00000295658 human ensembl 74_37 +1 known silent c.546 p.Y182 0.996 NULL NULL - no_errors TMEM169 HGNC ENSG00000163449 tier1 - - 136 0 0.00 42 48 53.33 TNRC18 0 genome.wustl.edu 37 7 5348865 5348865 + Silent SNP G G T TCGA-VQ-A8E7-01B-11D-A410-08 TCGA-VQ-A8E7-10B-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eafa019f-744e-4aae-9a03-529379a7d7f1 c4b3b43a-a766-4a0f-b4e5-9d2e7a8c3867 7 5348865 5348865 G T SNP TNRC18 ENST00000399537 human ensembl 74_37 -1 known silent c.8523 p.I2841 1.000 pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors TNRC18 HGNC ENSG00000182095 tier1 - - 48 0 0.00 36 21 36.84 TP53 0 genome.wustl.edu 37 17 7577539 7577539 + Missense_Mutation SNP G G A TCGA-VQ-A8E7-01B-11D-A410-08 TCGA-VQ-A8E7-10B-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eafa019f-744e-4aae-9a03-529379a7d7f1 c4b3b43a-a766-4a0f-b4e5-9d2e7a8c3867 17 7577539 7577539 G A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.742 p.R248W 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 rs121912651 - 67 0 0.00 22 31 58.49 TP63 0 genome.wustl.edu 37 3 189586503 189586503 + Missense_Mutation SNP G G A TCGA-VQ-A8E7-01B-11D-A410-08 TCGA-VQ-A8E7-10B-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eafa019f-744e-4aae-9a03-529379a7d7f1 c4b3b43a-a766-4a0f-b4e5-9d2e7a8c3867 3 189586503 189586503 G A SNP TP63 ENST00000264731 human ensembl 74_37 +1 known missense c.1127 p.R376H 1.000 NULL pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_SAM_2,superfamily_p53-like_TF_DNA-bd,superfamily_SAM/pointed,superfamily_p53_tetrameristn,smart_SAM,prints_p53_tumour_suppressor - no_errors TP63 HGNC ENSG00000073282 tier1 rs143591434 - 122 0 0.00 83 31 27.19 TTC14 0 genome.wustl.edu 37 3 180324312 180324312 + Nonsense_Mutation SNP G G T TCGA-VQ-A8E7-01B-11D-A410-08 TCGA-VQ-A8E7-10B-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eafa019f-744e-4aae-9a03-529379a7d7f1 c4b3b43a-a766-4a0f-b4e5-9d2e7a8c3867 3 180324312 180324312 G T SNP TTC14 ENST00000296015 human ensembl 74_37 +1 known nonsense c.1093 p.E365* 1.000 pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_1,superfamily_NA-bd_OB-fold,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom - no_errors TTC14 HGNC ENSG00000163728 tier1 - - 122 0 0.00 78 26 25.00 TTC25 0 genome.wustl.edu 37 17 40107317 40107317 + RNA SNP G G A TCGA-VQ-A8E7-01B-11D-A410-08 TCGA-VQ-A8E7-10B-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eafa019f-744e-4aae-9a03-529379a7d7f1 c4b3b43a-a766-4a0f-b4e5-9d2e7a8c3867 17 40107317 40107317 G A SNP TTC25 ENST00000591658 human ensembl 74_37 +1 known rna NULL NULL 0.317 - - - no_errors TTC25 HGNC ENSG00000204815 tier1 - - 35 0 0.00 20 4 16.67 UBBP4 0 genome.wustl.edu 37 17 21730961 21730961 + Missense_Mutation SNP C C A TCGA-VQ-A8E7-01B-11D-A410-08 TCGA-VQ-A8E7-10B-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eafa019f-744e-4aae-9a03-529379a7d7f1 c4b3b43a-a766-4a0f-b4e5-9d2e7a8c3867 17 21730961 21730961 C A SNP UBBP4 ENST00000578713 human ensembl 74_37 +1 putative missense c.263 p.T88N 1.000 pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup,prints_Ubiquitin pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup,prints_Ubiquitin - no_errors UBBP4 HGNC ENSG00000263563 tier1 - - 82 0 0.00 49 32 39.02 WHAMM 0 genome.wustl.edu 37 15 83499506 83499506 + Silent SNP G G A TCGA-VQ-A8E7-01B-11D-A410-08 TCGA-VQ-A8E7-10B-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eafa019f-744e-4aae-9a03-529379a7d7f1 c4b3b43a-a766-4a0f-b4e5-9d2e7a8c3867 15 83499506 83499506 G A SNP WHAMM ENST00000286760 human ensembl 74_37 +1 known silent c.1797 p.S599 0.000 NULL superfamily_tRNA-bd_arm,pfscan_WH2_dom - no_errors WHAMM HGNC ENSG00000156232 tier1 - - 72 0 0.00 43 25 36.76 WNK1 0 genome.wustl.edu 37 12 1006688 1006688 + Missense_Mutation SNP G G A TCGA-VQ-A8E7-01B-11D-A410-08 TCGA-VQ-A8E7-10B-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eafa019f-744e-4aae-9a03-529379a7d7f1 c4b3b43a-a766-4a0f-b4e5-9d2e7a8c3867 12 1006688 1006688 G A SNP WNK1 ENST00000530271 human ensembl 74_37 +1 known missense c.7783 p.E2595K 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors WNK1 HGNC ENSG00000060237 tier1 - - 95 0 0.00 53 20 27.40 XPO1 0 genome.wustl.edu 37 2 61712998 61712998 + Missense_Mutation SNP C C T TCGA-VQ-A8E7-01B-11D-A410-08 TCGA-VQ-A8E7-10B-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eafa019f-744e-4aae-9a03-529379a7d7f1 c4b3b43a-a766-4a0f-b4e5-9d2e7a8c3867 2 61712998 61712998 C T SNP XPO1 ENST00000401558 human ensembl 74_37 -1 known missense c.2413 p.A805T 1.000 pfam_CRM1_C_dom,superfamily_ARM-type_fold pfam_CRM1_C_dom,pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors XPO1 HGNC ENSG00000082898 tier1 - - 83 0 0.00 23 47 67.14 YIPF2 0 genome.wustl.edu 37 19 11036418 11036419 + In_Frame_Ins INS - - GCA TCGA-VQ-A8E7-01B-11D-A410-08 TCGA-VQ-A8E7-10B-01D-A413-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eafa019f-744e-4aae-9a03-529379a7d7f1 c4b3b43a-a766-4a0f-b4e5-9d2e7a8c3867 19 11036418 11036419 - GCA INS YIPF2 ENST00000253031 human ensembl 74_37 -1 known in_frame_ins c.311_310 p.104in_frame_insL 1.000:1.000 pfam_Yip1 pfam_Yip1 - no_errors YIPF2 HGNC ENSG00000130733 tier1 55 0 0.00 34 4 10.53 ZCCHC9 0 genome.wustl.edu 37 5 80604769 80604769 + Silent SNP A A G TCGA-VQ-A8E7-01B-11D-A410-08 TCGA-VQ-A8E7-10B-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eafa019f-744e-4aae-9a03-529379a7d7f1 c4b3b43a-a766-4a0f-b4e5-9d2e7a8c3867 5 80604769 80604769 A G SNP ZCCHC9 ENST00000254037 human ensembl 74_37 +1 known silent c.540 p.E180 1.000 superfamily_Znf_CCHC pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC9 HGNC ENSG00000131732 tier1 - - 89 0 0.00 66 5 7.04 ZDHHC22 0 genome.wustl.edu 37 14 77605703 77605703 + Missense_Mutation SNP C C T TCGA-VQ-A8E7-01B-11D-A410-08 TCGA-VQ-A8E7-10B-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eafa019f-744e-4aae-9a03-529379a7d7f1 c4b3b43a-a766-4a0f-b4e5-9d2e7a8c3867 14 77605703 77605703 C T SNP ZDHHC22 ENST00000319374 human ensembl 74_37 -1 known missense c.379 p.V127I 0.998 pfam_Znf_DHHC_palmitoyltrfase,pfscan_SSD,pfscan_Znf_DHHC_palmitoyltrfase pfam_Znf_DHHC_palmitoyltrfase,pfscan_SSD,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC22 HGNC ENSG00000177108 tier1 - - 10 0 0.00 8 4 33.33 ZNF462 0 genome.wustl.edu 37 9 109689159 109689159 + Missense_Mutation SNP C C T TCGA-VQ-A8E7-01B-11D-A410-08 TCGA-VQ-A8E7-10B-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eafa019f-744e-4aae-9a03-529379a7d7f1 c4b3b43a-a766-4a0f-b4e5-9d2e7a8c3867 9 109689159 109689159 C T SNP ZNF462 ENST00000457913 human ensembl 74_37 +1 known missense c.2966 p.A989V 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF462 HGNC ENSG00000148143 tier1 - - 100 0 0.00 100 32 24.24 ZNF577 0 genome.wustl.edu 37 19 52380605 52380605 + Silent SNP C C A TCGA-VQ-A8E7-01B-11D-A410-08 TCGA-VQ-A8E7-10B-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eafa019f-744e-4aae-9a03-529379a7d7f1 c4b3b43a-a766-4a0f-b4e5-9d2e7a8c3867 19 52380605 52380605 C A SNP ZNF577 ENST00000301399 human ensembl 74_37 -1 known silent c.213 p.S71 0.000 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF577 HGNC ENSG00000161551 tier1 - - 98 0 0.00 43 19 30.65 ZNF614 0 genome.wustl.edu 37 19 52519596 52519596 + Nonsense_Mutation SNP G G A TCGA-VQ-A8E7-01B-11D-A410-08 TCGA-VQ-A8E7-10B-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eafa019f-744e-4aae-9a03-529379a7d7f1 c4b3b43a-a766-4a0f-b4e5-9d2e7a8c3867 19 52519596 52519596 G A SNP ZNF614 ENST00000270649 human ensembl 74_37 -1 known nonsense c.1255 p.R419* 0.945 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 ZNF614 HGNC ENSG00000142556 tier1 rs78398086 - 231 0 0.00 154 60 27.91 ZNF667 0 genome.wustl.edu 37 19 56973711 56973711 + Missense_Mutation SNP G G T TCGA-VQ-A8E7-01B-11D-A410-08 TCGA-VQ-A8E7-10B-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eafa019f-744e-4aae-9a03-529379a7d7f1 c4b3b43a-a766-4a0f-b4e5-9d2e7a8c3867 19 56973711 56973711 G T SNP ZNF667 ENST00000342634 human ensembl 74_37 -1 known missense c.308 p.S103Y 0.721 superfamily_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 ZNF667 HGNC ENSG00000198046 tier1 - - 123 0 0.00 86 28 24.56 ZNF676 0 genome.wustl.edu 37 19 22363452 22363452 + Missense_Mutation SNP T T G TCGA-VQ-A8E7-01B-11D-A410-08 TCGA-VQ-A8E7-10B-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eafa019f-744e-4aae-9a03-529379a7d7f1 c4b3b43a-a766-4a0f-b4e5-9d2e7a8c3867 19 22363452 22363452 T G SNP ZNF676 ENST00000397121 human ensembl 74_37 -1 known missense c.1067 p.K356T 0.123 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF676 HGNC ENSG00000196109 tier1 - - 92 0 0.00 73 38 34.23 ZNF684 0 genome.wustl.edu 37 1 41012947 41012947 + Missense_Mutation SNP C C A TCGA-VQ-A8E7-01B-11D-A410-08 TCGA-VQ-A8E7-10B-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eafa019f-744e-4aae-9a03-529379a7d7f1 c4b3b43a-a766-4a0f-b4e5-9d2e7a8c3867 1 41012947 41012947 C A SNP ZNF684 ENST00000372699 human ensembl 74_37 +1 known missense c.952 p.Q318K 0.871 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 ZNF684 HGNC ENSG00000117010 tier1 - - 113 0 0.00 83 40 32.52 ZNF831 0 genome.wustl.edu 37 20 57767832 57767832 + Silent SNP C C T TCGA-VQ-A8E7-01B-11D-A410-08 TCGA-VQ-A8E7-10B-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eafa019f-744e-4aae-9a03-529379a7d7f1 c4b3b43a-a766-4a0f-b4e5-9d2e7a8c3867 20 57767832 57767832 C T SNP ZNF831 ENST00000371030 human ensembl 74_37 +1 novel silent c.1758 p.D586 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF831 HGNC ENSG00000124203 tier1 - - 36 0 0.00 20 15 42.86 ZSCAN5C 0 genome.wustl.edu 37 19 56719898 56719898 + Missense_Mutation SNP G G T TCGA-VQ-A8E7-01B-11D-A410-08 TCGA-VQ-A8E7-10B-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eafa019f-744e-4aae-9a03-529379a7d7f1 c4b3b43a-a766-4a0f-b4e5-9d2e7a8c3867 19 56719898 56719898 G T SNP ZSCAN5C ENST00000376267 human ensembl 74_37 +1 known missense c.820 p.A274S 0.773 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN5C HGNC ENSG00000204532 tier1 - - 64 0 0.00 52 21 28.77