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 dbSNP GMAF n_ref_count n_alt_count normal_vaf t_ref_count t_alt_count tumor_vaf n_ref_count_val n_alt_count_val normal_vaf_val t_ref_count_val t_alt_count_val tumor_vaf_val KIAA1211 0 genome.wustl.edu 37 4 57180907 57180907 + Silent SNP G G A TCGA-X9-A973-01A-11D-A387-09 TCGA-X9-A973-10A-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 231a60ba-0cbf-4e49-80b9-fb79251a0329 3a81eddf-cc20-47e1-ba2e-5bc21240b8d9 4 57180907 57180907 G A SNP KIAA1211 ENST00000504228 human ensembl 74_37 +1 known silent c.1239 p.E413 0.000 NULL NULL - no_errors KIAA1211 HGNC ENSG00000109265 tier1 - - 131 0 0.00 31 66 68.04 48 0 0.00 14 40 74.07 PKD1L1 0 genome.wustl.edu 37 7 47945469 47945469 + Missense_Mutation SNP T T C TCGA-X9-A973-01A-11D-A387-09 TCGA-X9-A973-10A-01D-A38A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 231a60ba-0cbf-4e49-80b9-fb79251a0329 3a81eddf-cc20-47e1-ba2e-5bc21240b8d9 7 47945469 47945469 T C SNP PKD1L1 ENST00000289672 human ensembl 74_37 -1 known missense c.1493 p.H498R 0.000 NULL pfam_PKD/REJ-like,pfam_PKD1_2_channel,pfam_PKD_dom,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,superfamily_PKD_dom,smart_PKD/Chitinase_dom,smart_PLAT/LH2_dom,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like - no_errors PKD1L1 HGNC ENSG00000158683 tier1 rs200709779 GMAF=0 60 0 0.00 97 57 37.01 89 0 0.00 63 55 46.61 DH10 0 genome.wustl.edu 37 12 124358165 124358165 + Missense_Mutation SNP G G C TCGA-X9-A973-01A-11D-A387-09 TCGA-X9-A973-10A-01D-A38A-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 231a60ba-0cbf-4e49-80b9-fb79251a0329 3a81eddf-cc20-47e1-ba2e-5bc21240b8d9 12 124358165 124358165 G C SNP DH10 ENST00000409039 human ensembl 74_37 +1 known missense c.7492 p.E2498Q 1.000 pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_PyrdxlP-dep_Trfase,smart_AAA+_ATPase - no_errors DH10 HGNC ENSG00000197653 tier1 - - 92 0 0.00 41 28 40.58 102 0 0.00 107 46 30.07 SYT16 0 genome.wustl.edu 37 14 62567269 62567269 + Silent SNP C C T TCGA-X9-A973-01A-11D-A387-09 TCGA-X9-A973-10A-01D-A38A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 231a60ba-0cbf-4e49-80b9-fb79251a0329 3a81eddf-cc20-47e1-ba2e-5bc21240b8d9 14 62567269 62567269 C T SNP SYT16 ENST00000430451 human ensembl 74_37 +1 novel silent c.1782 p.S594 0.929 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors SYT16 HGNC ENSG00000139973 tier1 - - 79 0 0.00 15 34 69.39 104 0 0.00 29 64 68.82 GPRC6A 0 genome.wustl.edu 37 6 117127901 117127901 + Missense_Mutation SNP C C A TCGA-X9-A973-01A-11D-A387-09 TCGA-X9-A973-10A-01D-A38A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 231a60ba-0cbf-4e49-80b9-fb79251a0329 3a81eddf-cc20-47e1-ba2e-5bc21240b8d9 6 117127901 117127901 C A SNP GPRC6A ENST00000310357 human ensembl 74_37 -1 known missense c.967 p.V323F 0.995 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_GPCR_3_C,pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_vmron_rcpt_2 - no_errors GPRC6A HGNC ENSG00000173612 tier1 - - 35 0 0.00 19 16 45.71 128 0 0.00 60 38 38.78 MAGEC1 0 genome.wustl.edu 37 X 140996475 140996475 + Silent SNP C C T TCGA-X9-A973-01A-11D-A387-09 TCGA-X9-A973-10A-01D-A38A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 231a60ba-0cbf-4e49-80b9-fb79251a0329 3a81eddf-cc20-47e1-ba2e-5bc21240b8d9 X 140996475 140996475 C T SNP MAGEC1 ENST00000285879 human ensembl 74_37 +1 known silent c.3285 p.V1095 0.000 pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors MAGEC1 HGNC ENSG00000155495 tier1 - - 34 0 0.00 27 9 25.00 58 0 0.00 44 33 42.31 CTRB1 0 genome.wustl.edu 37 16 75257097 75257097 + Nonsense_Mutation SNP C C T TCGA-X9-A973-01A-11D-A387-09 TCGA-X9-A973-10A-01D-A38A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 231a60ba-0cbf-4e49-80b9-fb79251a0329 3a81eddf-cc20-47e1-ba2e-5bc21240b8d9 16 75257097 75257097 C T SNP CTRB1 ENST00000361017 human ensembl 74_37 +1 known nonsense c.295 p.Q99* 0.997 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 CTRB1 HGNC ENSG00000168925 tier1 - - 111 0 0.00 31 22 41.51 12 0 0.00 13 5 27.78 TRIM27 0 genome.wustl.edu 37 6 28888004 28888004 + Missense_Mutation SNP C C T TCGA-X9-A973-01A-11D-A387-09 TCGA-X9-A973-10A-01D-A38A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 231a60ba-0cbf-4e49-80b9-fb79251a0329 3a81eddf-cc20-47e1-ba2e-5bc21240b8d9 6 28888004 28888004 C T SNP TRIM27 ENST00000377199 human ensembl 74_37 -1 known missense c.532 p.E178K 1.000 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin,prints_Znf_B-box_chordata - no_errors TRIM27 HGNC ENSG00000204713 tier1 - - 35 0 0.00 20 7 25.93 117 0 0.00 76 13 14.61 FGFR4 0 genome.wustl.edu 37 5 176524620 176524620 + Silent SNP C C T TCGA-X9-A973-01A-11D-A387-09 TCGA-X9-A973-10A-01D-A38A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 231a60ba-0cbf-4e49-80b9-fb79251a0329 3a81eddf-cc20-47e1-ba2e-5bc21240b8d9 5 176524620 176524620 C T SNP FGFR4 ENST00000292408 human ensembl 74_37 +1 known silent c.2352 p.H784 0.977 pirsf_FGF_rcpt_fam pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors FGFR4 HGNC ENSG00000160867 tier1 rs199622668 GMAF=0.0005 44 0 0.00 11 17 60.71 45 0 0.00 11 28 71.79 OR8K3 0 genome.wustl.edu 37 11 56086342 56086342 + Missense_Mutation SNP T T G TCGA-X9-A973-01A-11D-A387-09 TCGA-X9-A973-10A-01D-A38A-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 231a60ba-0cbf-4e49-80b9-fb79251a0329 3a81eddf-cc20-47e1-ba2e-5bc21240b8d9 11 56086342 56086342 T G SNP OR8K3 ENST00000312711 human ensembl 74_37 +1 known missense c.560 p.L187W 0.012 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 OR8K3 HGNC ENSG00000181689 tier1 - - 70 0 0.00 19 20 51.28 87 0 0.00 37 42 53.16 INSC 0 genome.wustl.edu 37 11 15243108 15243108 + Missense_Mutation SNP C C T TCGA-X9-A973-01A-11D-A387-09 TCGA-X9-A973-10A-01D-A38A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 231a60ba-0cbf-4e49-80b9-fb79251a0329 3a81eddf-cc20-47e1-ba2e-5bc21240b8d9 11 15243108 15243108 C T SNP INSC ENST00000379554 human ensembl 74_37 +1 known missense c.1046 p.A349V 1.000 superfamily_ARM-type_fold,smart_Armadillo superfamily_ARM-type_fold,smart_Armadillo - no_errors INSC HGNC ENSG00000188487 tier1 - - 57 0 0.00 17 9 34.62 17 0 0.00 20 5 20.00 SUFU 0 genome.wustl.edu 37 10 104357026 104357026 + Nonsense_Mutation SNP C C T TCGA-X9-A973-01A-11D-A387-09 TCGA-X9-A973-10A-01D-A38A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 231a60ba-0cbf-4e49-80b9-fb79251a0329 3a81eddf-cc20-47e1-ba2e-5bc21240b8d9 10 104357026 104357026 C T SNP SUFU ENST00000369902 human ensembl 74_37 +1 known nonsense c.886 p.Q296* 1.000 pfam_SUFU_C,pirsf_Suppressor_of_fused_euk pfam_SUFU_C,pfam_SUFU-like_domain,pirsf_Suppressor_of_fused_euk - no_errors SUFU HGNC ENSG00000107882 tier1 - - 56 0 0.00 17 17 50.00 32 0 0.00 10 18 64.29 MFSD10 0 genome.wustl.edu 37 4 2934379 2934379 + Missense_Mutation SNP G G T TCGA-X9-A973-01A-11D-A387-09 TCGA-X9-A973-10A-01D-A38A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 231a60ba-0cbf-4e49-80b9-fb79251a0329 3a81eddf-cc20-47e1-ba2e-5bc21240b8d9 4 2934379 2934379 G T SNP MFSD10 ENST00000329687 human ensembl 74_37 -1 known missense c.479 p.S160Y 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors MFSD10 HGNC ENSG00000109736 tier1 - - 41 0 0.00 13 5 27.78 26 0 0.00 17 2 10.53 GS 0 genome.wustl.edu 37 20 57466892 57466892 + Silent SNP C C T TCGA-X9-A973-01A-11D-A387-09 TCGA-X9-A973-10A-01D-A38A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 231a60ba-0cbf-4e49-80b9-fb79251a0329 3a81eddf-cc20-47e1-ba2e-5bc21240b8d9 20 57466892 57466892 C T SNP GS ENST00000354359 human ensembl 74_37 +1 known silent c.111 p.Y37 0.996 pfam_Gprotein_alpha_su,superfamily_P-loop_NTPase,smart_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_S,prints_Gprotein_alpha_su - no_errors GS HGNC ENSG00000087460 tier1 - - 35 0 0.00 20 25 55.56 15 0 0.00 11 14 56.00 OR4F6 0 genome.wustl.edu 37 15 102346825 102346825 + Silent SNP A A T TCGA-X9-A973-01A-11D-A387-09 TCGA-X9-A973-10A-01D-A38A-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 231a60ba-0cbf-4e49-80b9-fb79251a0329 3a81eddf-cc20-47e1-ba2e-5bc21240b8d9 15 102346825 102346825 A T SNP OR4F6 ENST00000328882 human ensembl 74_37 +1 known silent c.903 p.R301 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4F6 HGNC ENSG00000184140 tier1 - - 56 0 0.00 25 34 57.63 63 0 0.00 12 31 72.09 GUCY2EP 0 genome.wustl.edu 37 11 76414357 76414357 + R SNP G G T TCGA-X9-A973-01A-11D-A387-09 TCGA-X9-A973-10A-01D-A38A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 231a60ba-0cbf-4e49-80b9-fb79251a0329 3a81eddf-cc20-47e1-ba2e-5bc21240b8d9 11 76414357 76414357 G T SNP GUCY2EP ENST00000526984 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors GUCY2EP HGNC ENSG00000204529 tier1 - - 42 0 0.00 34 4 10.53 118 0 0.00 78 27 25.71 KCNH5 0 genome.wustl.edu 37 14 63269288 63269288 + Missense_Mutation SNP G G C TCGA-X9-A973-01A-11D-A387-09 TCGA-X9-A973-10A-01D-A38A-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 231a60ba-0cbf-4e49-80b9-fb79251a0329 3a81eddf-cc20-47e1-ba2e-5bc21240b8d9 14 63269288 63269288 G C SNP KCNH5 ENST00000322893 human ensembl 74_37 -1 known missense c.1581 p.I527M 1.000 superfamily_cNMP-bd-like,prints_K_chnl_volt-dep_EAG pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_cNMP-bd_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH5 HGNC ENSG00000140015 tier1 - - 24 0 0.00 6 11 64.71 59 0 0.00 12 26 68.42 RYR1 0 genome.wustl.edu 37 19 39010003 39010003 + Missense_Mutation SNP G G T TCGA-X9-A973-01A-11D-A387-09 TCGA-X9-A973-10A-01D-A38A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 231a60ba-0cbf-4e49-80b9-fb79251a0329 3a81eddf-cc20-47e1-ba2e-5bc21240b8d9 19 39010003 39010003 G T SNP RYR1 ENST00000359596 human ensembl 74_37 +1 known missense c.10168 p.G3390C 1.000 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 tier1 - - 53 0 0.00 36 7 16.28 22 0 0.00 27 7 20.59 PDE1A 0 genome.wustl.edu 37 2 183066503 183066503 + Missense_Mutation SNP G G T TCGA-X9-A973-01A-11D-A387-09 TCGA-X9-A973-10A-01D-A38A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 231a60ba-0cbf-4e49-80b9-fb79251a0329 3a81eddf-cc20-47e1-ba2e-5bc21240b8d9 2 183066503 183066503 G T SNP PDE1A ENST00000456212 human ensembl 74_37 -1 known missense c.964 p.L322I 0.999 pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom pfam_PDEase_catalytic_dom,pfam_PDEase_N,superfamily_GRIP,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE1A HGNC ENSG00000115252 tier1 - - 42 0 0.00 51 9 15.00 94 0 0.00 64 18 21.95 FLRT2 0 genome.wustl.edu 37 14 86092517 86092517 + R SNP G G T TCGA-X9-A973-01A-11D-A387-09 TCGA-X9-A973-10A-01D-A38A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 231a60ba-0cbf-4e49-80b9-fb79251a0329 3a81eddf-cc20-47e1-ba2e-5bc21240b8d9 14 86092517 86092517 G T SNP FLRT2 ENST00000553650 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors FLRT2 HGNC ENSG00000185070 tier1 - - 37 0 0.00 10 21 67.74 99 0 0.00 31 61 66.30 SAMHD1 0 genome.wustl.edu 37 20 35545356 35545356 + Missense_Mutation SNP C C A TCGA-X9-A973-01A-11D-A387-09 TCGA-X9-A973-10A-01D-A38A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 231a60ba-0cbf-4e49-80b9-fb79251a0329 3a81eddf-cc20-47e1-ba2e-5bc21240b8d9 20 35545356 35545356 C A SNP SAMHD1 ENST00000262878 human ensembl 74_37 -1 known missense c.949 p.A317S 1.000 pfam_HD_domain,smart_HD/PDEase_dom pfam_HD_domain,pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,smart_HD/PDEase_dom,pfscan_SAM - no_errors SAMHD1 HGNC ENSG00000101347 tier1 - - 72 0 0.00 29 53 64.63 101 1 0.98 32 63 66.32 AQP4 0 genome.wustl.edu 37 18 24442131 24442131 + R SNP A A T TCGA-X9-A973-01A-11D-A387-09 TCGA-X9-A973-10A-01D-A38A-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 231a60ba-0cbf-4e49-80b9-fb79251a0329 3a81eddf-cc20-47e1-ba2e-5bc21240b8d9 18 24442131 24442131 A T SNP AQP4 ENST00000583022 human ensembl 74_37 -1 known rna NULL NULL 0.013 - - - no_errors AQP4 HGNC ENSG00000171885 tier1 - - 30 0 0.00 25 9 26.47 69 0 0.00 47 34 41.98 ACSM5 0 genome.wustl.edu 37 16 20448601 20448601 + Missense_Mutation SNP G G A TCGA-X9-A973-01A-11D-A387-09 TCGA-X9-A973-10A-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 231a60ba-0cbf-4e49-80b9-fb79251a0329 3a81eddf-cc20-47e1-ba2e-5bc21240b8d9 16 20448601 20448601 G A SNP ACSM5 ENST00000331849 human ensembl 74_37 +1 known missense c.1448 p.G483E 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSM5 HGNC ENSG00000183549 tier1 - - 110 0 0.00 59 12 16.90 84 0 0.00 64 20 23.81 SPOCK3 0 genome.wustl.edu 37 4 167983668 167983668 + Missense_Mutation SNP C C A TCGA-X9-A973-01A-11D-A387-09 TCGA-X9-A973-10A-01D-A38A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 231a60ba-0cbf-4e49-80b9-fb79251a0329 3a81eddf-cc20-47e1-ba2e-5bc21240b8d9 4 167983668 167983668 C A SNP SPOCK3 ENST00000357154 human ensembl 74_37 -1 known missense c.219 p.W73C 1.000 NULL pfam_SPARC/Testican_Ca-bd-dom,pfam_Thyroglobulin_1,pfam_Kazal_dom,superfamily_Thyroglobulin_1,smart_Kazal_dom,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1 - no_errors SPOCK3 HGNC ENSG00000196104 tier1 - - 97 0 0.00 135 80 37.21 107 0 0.00 49 15 23.44 PCDHB12 0 genome.wustl.edu 37 5 140588657 140588657 + Missense_Mutation SNP T T C TCGA-X9-A973-01A-11D-A387-09 TCGA-X9-A973-10A-01D-A38A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 231a60ba-0cbf-4e49-80b9-fb79251a0329 3a81eddf-cc20-47e1-ba2e-5bc21240b8d9 5 140588657 140588657 T C SNP PCDHB12 ENST00000239450 human ensembl 74_37 +1 known missense c.178 p.S60P 0.006 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB12 HGNC ENSG00000120328 tier1 - - 74 0 0.00 46 29 38.67 84 0 0.00 48 22 31.43 ENDOU 0 genome.wustl.edu 37 12 48110109 48110109 + Missense_Mutation SNP T T G TCGA-X9-A973-01A-11D-A387-09 TCGA-X9-A973-10A-01D-A38A-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 231a60ba-0cbf-4e49-80b9-fb79251a0329 3a81eddf-cc20-47e1-ba2e-5bc21240b8d9 12 48110109 48110109 T G SNP ENDOU ENST00000229003 human ensembl 74_37 -1 known missense c.602 p.E201A 1.000 pfam_Endoribonuclease_XendoU pfam_Endoribonuclease_XendoU,pfam_Somatomedin_B_dom,smart_Somatomedin_B_dom,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata - no_errors ENDOU HGNC ENSG00000111405 tier1 - - 39 0 0.00 16 16 48.48 17 0 0.00 21 5 19.23 SLC9A4 0 genome.wustl.edu 37 2 103148889 103148889 + Missense_Mutation SNP G G T TCGA-X9-A973-01A-11D-A387-09 TCGA-X9-A973-10A-01D-A38A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 231a60ba-0cbf-4e49-80b9-fb79251a0329 3a81eddf-cc20-47e1-ba2e-5bc21240b8d9 2 103148889 103148889 G T SNP SLC9A4 ENST00000295269 human ensembl 74_37 +1 known missense c.2139 p.M713I 0.976 NULL pfam_Cation/H_exchanger,prints_NaH_exchanger,prints_Na/H_exchanger_2,tigrfam_NaH_exchanger - no_errors SLC9A4 HGNC ENSG00000180251 tier1 - - 49 0 0.00 31 17 35.42 156 0 0.00 94 45 32.37 ULBP1 0 genome.wustl.edu 37 6 150290442 150290442 + Nonsense_Mutation SNP A A T TCGA-X9-A973-01A-11D-A387-09 TCGA-X9-A973-10A-01D-A38A-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 231a60ba-0cbf-4e49-80b9-fb79251a0329 3a81eddf-cc20-47e1-ba2e-5bc21240b8d9 6 150290442 150290442 A T SNP ULBP1 ENST00000229708 human ensembl 74_37 +1 known nonsense c.571 p.K191* 0.000 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog - no_errors ULBP1 HGNC ENSG00000111981 tier1 - - 29 0 0.00 37 4 9.76 71 0 0.00 62 8 11.43 DLGAP1 0 genome.wustl.edu 37 18 3708389 3708389 + R DEL G G - TCGA-X9-A973-01A-11D-A387-09 TCGA-X9-A973-10A-01D-A38A-09 G G G - G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 231a60ba-0cbf-4e49-80b9-fb79251a0329 3a81eddf-cc20-47e1-ba2e-5bc21240b8d9 18 3708389 3708389 G - DEL DLGAP1 ENST00000498188 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors DLGAP1 HGNC ENSG00000170579 tier1 48 0 0.00 30 9 23.08 111 0 0.00 80 27 25.23 TTLL5 0 genome.wustl.edu 37 14 76246006 76246011 + In_Frame_Del DEL AAGAAC AAGAAC - TCGA-X9-A973-01A-11D-A387-09 TCGA-X9-A973-10A-01D-A38A-09 AAGAAC AAGAAC AAGAAC - AAGAAC AAGAAC Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 231a60ba-0cbf-4e49-80b9-fb79251a0329 3a81eddf-cc20-47e1-ba2e-5bc21240b8d9 14 76246006 76246011 AAGAAC - DEL TTLL5 ENST00000298832 human ensembl 74_37 +1 known in_frame_del c.2476_2481 p.KN826in_frame_del 0.997:1.000:0.997:0.983:1.000:1.000 NULL pfam_TTL/TTLL_fam - no_errors TTLL5 HGNC ENSG00000119685 tier1 152 0 0.00 37 50 57.47 152 0 0.00 37 50 57.47 CR1 0 genome.wustl.edu 37 1 207753676 207753676 + Silent SNP T T C TCGA-X9-A973-01A-11D-A387-09 TCGA-X9-A973-10A-01D-A38A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 231a60ba-0cbf-4e49-80b9-fb79251a0329 3a81eddf-cc20-47e1-ba2e-5bc21240b8d9 1 207753676 207753676 T C SNP CR1 ENST00000367049 human ensembl 74_37 +1 known silent c.5028 p.C1676 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CR1 HGNC ENSG00000203710 tier1 - - 142 0 0.00 34 40 54.05 17 0 0.00 1 10 90.91 MYH14 0 genome.wustl.edu 37 19 50760604 50760604 + Missense_Mutation SNP C C A TCGA-X9-A973-01A-11D-A387-09 TCGA-X9-A973-10A-01D-A38A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 231a60ba-0cbf-4e49-80b9-fb79251a0329 3a81eddf-cc20-47e1-ba2e-5bc21240b8d9 19 50760604 50760604 C A SNP MYH14 ENST00000262269 human ensembl 74_37 +1 known missense c.2093 p.P698Q 0.098 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH14 HGNC ENSG00000105357 tier1 - - 50 0 0.00 17 15 46.88 23 0 0.00 3 11 78.57 NR0B1 0 genome.wustl.edu 37 X 30326654 30326654 + Missense_Mutation SNP T T C TCGA-X9-A973-01A-11D-A387-09 TCGA-X9-A973-10A-01D-A38A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 231a60ba-0cbf-4e49-80b9-fb79251a0329 3a81eddf-cc20-47e1-ba2e-5bc21240b8d9 X 30326654 30326654 T C SNP NR0B1 ENST00000378970 human ensembl 74_37 -1 known missense c.827 p.Q276R 1.000 superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt - no_errors NR0B1 HGNC ENSG00000169297 tier1 - - 46 0 0.00 8 37 82.22 9 0 0.00 4 10 71.43 ERN1 0 genome.wustl.edu 37 17 62133221 62133223 + In_Frame_Del DEL GCT GCT - TCGA-X9-A973-01A-11D-A387-09 TCGA-X9-A973-10A-01D-A38A-09 GCT GCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 231a60ba-0cbf-4e49-80b9-fb79251a0329 3a81eddf-cc20-47e1-ba2e-5bc21240b8d9 17 62133221 62133223 GCT - DEL ERN1 ENST00000433197 human ensembl 74_37 -1 known in_frame_del c.1486_1484 p.Q495in_frame_del 0.999:0.998:0.998 NULL pfam_Prot_kinase_dom,pfam_KEN_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Quinonprotein_ADH-like_supfam,smart_PQQ_beta_propeller_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PUG-dom,pfscan_Prot_kinase_dom - no_errors ERN1 HGNC ENSG00000178607 tier1 19 0 0.00 14 2 12.50 10 0 0.00 5 1 16.67 FBXW5 0 genome.wustl.edu 37 9 139835416 139835417 + Frame_Shift_Del DEL GC GC - TCGA-X9-A973-01A-11D-A387-09 TCGA-X9-A973-10A-01D-A38A-09 GC GC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 231a60ba-0cbf-4e49-80b9-fb79251a0329 3a81eddf-cc20-47e1-ba2e-5bc21240b8d9 9 139835416 139835417 GC - DEL FBXW5 ENST00000325285 human ensembl 74_37 -1 known frame_shift_del c.1665_1664 p.R555fs 0.927:0.986 NULL pfam_WD40_repeat,pfam_F-box_dom,superfamily_Quinoprot_gluc/sorb_DH,superfamily_F-box_dom,smart_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors FBXW5 HGNC ENSG00000159069 tier1 79 0 0.00 17 2 10.53 10 0 0.00 7 0 0.00 KRBA1 0 genome.wustl.edu 37 7 149430495 149430495 + Missense_Mutation SNP G G C TCGA-X9-A973-01A-11D-A387-09 TCGA-X9-A973-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 231a60ba-0cbf-4e49-80b9-fb79251a0329 3a81eddf-cc20-47e1-ba2e-5bc21240b8d9 7 149430495 149430495 G C SNP KRBA1 ENST00000255992 human ensembl 74_37 +1 known missense c.2449 p.A817P 0.000 NULL NULL - no_errors KRBA1 HGNC ENSG00000133619 tier1 - - 61 0 0.00 37 21 35.59 7 0 0.00 3 0 0.00 CCNL2 0 genome.wustl.edu 37 1 1334664 1334666 + In_Frame_Del DEL GCC GCC - TCGA-X9-A973-01A-11D-A387-09 TCGA-X9-A973-10A-01D-A38A-09 GCC GCC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 231a60ba-0cbf-4e49-80b9-fb79251a0329 3a81eddf-cc20-47e1-ba2e-5bc21240b8d9 1 1334664 1334666 GCC - DEL CCNL2 ENST00000400809 human ensembl 74_37 -1 known in_frame_del c.23_21 p.A8in_frame_del 0.005:0.003:0.058 pirsf_Cyclin_L pfam_Cyclin_N,pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_L - no_errors CCNL2 HGNC ENSG00000221978 tier1 27 0 0.00 7 2 22.22 0 0 0.00 1 0 0.00 CYP2F1 0 genome.wustl.edu 37 19 41630690 41630690 + Missense_Mutation SNP C C T TCGA-X9-A973-01A-11D-A387-09 TCGA-X9-A973-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 231a60ba-0cbf-4e49-80b9-fb79251a0329 3a81eddf-cc20-47e1-ba2e-5bc21240b8d9 19 41630690 41630690 C T SNP CYP2F1 ENST00000331105 human ensembl 74_37 +1 known missense c.1031 p.A344V 0.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_CYP2_fam,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP2F1 HGNC ENSG00000197446 tier1 - - 34 0 0.00 19 6 24.00 0 0 0.00 0 0 0.00 ENSG00000221684 0 genome.wustl.edu 37 X 70979276 70979276 + R SNP A A G TCGA-X9-A973-01A-11D-A387-09 TCGA-X9-A973-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 231a60ba-0cbf-4e49-80b9-fb79251a0329 3a81eddf-cc20-47e1-ba2e-5bc21240b8d9 X 70979276 70979276 A G SNP ENSG00000221684 ENST00000408757 human ensembl 74_37 -1 novel rna NULL NULL 0.001 - - - no_errors BX276092.1 Clone_based_ensembl_gene ENSG00000221684 tier1 rs67643106 - 41 0 0.00 30 4 11.76 1 0 0.00 3 0 0.00 ENSG00000264299 0 genome.wustl.edu 37 11 125828460 125828461 + R INS - - TATATGTG TCGA-X9-A973-01A-11D-A387-09 TCGA-X9-A973-10A-01D-A38A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 231a60ba-0cbf-4e49-80b9-fb79251a0329 3a81eddf-cc20-47e1-ba2e-5bc21240b8d9 11 125828460 125828461 - TATATGTG INS ENSG00000264299 ENST00000582823 human ensembl 74_37 +1 known rna NULL NULL 0.301:0.221 - - - no_errors RP11-680F20.12 Clone_based_vega_gene ENSG00000264299 tier1 0 0 0.00 0 0 0.00 0 0 0.00 0 0 0.00 ENSG00000266657 0 genome.wustl.edu 37 1 142653541 142653541 + R SNP T T C TCGA-X9-A973-01A-11D-A387-09 TCGA-X9-A973-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 231a60ba-0cbf-4e49-80b9-fb79251a0329 3a81eddf-cc20-47e1-ba2e-5bc21240b8d9 1 142653541 142653541 T C SNP ENSG00000266657 ENST00000580249 human ensembl 74_37 +1 novel rna NULL NULL 0.000 - - - no_errors AL583842.3 Clone_based_ensembl_gene ENSG00000266657 tier1 - - 143 0 0.00 79 31 27.93 0 0 0.00 0 0 0.00 NUMBL 0 genome.wustl.edu 37 19 41173893 41173898 + In_Frame_Del DEL TGCTGT TGCTGT - TCGA-X9-A973-01A-11D-A387-09 TCGA-X9-A973-10A-01D-A38A-09 TGCTGT TGCTGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 231a60ba-0cbf-4e49-80b9-fb79251a0329 3a81eddf-cc20-47e1-ba2e-5bc21240b8d9 19 41173893 41173898 TGCTGT - DEL NUMBL ENST00000252891 human ensembl 74_37 -1 known in_frame_del c.1310_1305 p.QQ439in_frame_del 1.000:1.000:1.000:1.000:1.000:0.998 pirsf_Numb/numb-like pfam_Numb_domain,pfam_PTB/PI_dom,pfam_PTB,smart_PTB/PI_dom,pirsf_Numb/numb-like,pfscan_PTB/PI_dom - no_errors NUMBL HGNC ENSG00000105245 tier1 0 0 0.00 0 0 0.00 0 0 0.00 0 0 0.00 MAMLD1 0 genome.wustl.edu 37 X 149671639 149671639 + Missense_Mutation SNP G G T TCGA-X9-A973-01A-11D-A387-09 TCGA-X9-A973-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 231a60ba-0cbf-4e49-80b9-fb79251a0329 3a81eddf-cc20-47e1-ba2e-5bc21240b8d9 X 149671639 149671639 G T SNP MAMLD1 ENST00000262858 human ensembl 74_37 +1 known missense c.2136 p.E712D 1.000 NULL NULL - no_errors MAMLD1 HGNC ENSG00000013619 tier1 - - 47 0 0.00 9 14 60.87 2 0 0.00 0 2 100.00 GRK4 0 genome.wustl.edu 37 4 3015469 3015470 + Frame_Shift_Ins INS - - A TCGA-X9-A973-01A-11D-A387-09 TCGA-X9-A973-10A-01D-A38A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 231a60ba-0cbf-4e49-80b9-fb79251a0329 3a81eddf-cc20-47e1-ba2e-5bc21240b8d9 4 3015469 3015470 - A INS GRK4 ENST00000398052 human ensembl 74_37 +1 known frame_shift_ins c.655_656 p.R222fs 1.000:1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RGS_dom,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Regulat_G_prot_signal_superfam,pfscan_Prot_kinase_dom,prints_GPCR_kinase - no_errors GRK4 HGNC ENSG00000125388 tier1 50 0 0.00 53 5 8.62 49 0 0.00 31 2 6.06