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 TTC39B 0 genome.wustl.edu 37 9 15211327 15211327 + Missense_Mutation SNP A A T TCGA-DX-A7EF-01A-11D-A33E-09 TCGA-DX-A7EF-10A-01D-A33H-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a1c5c19d-3879-4216-ab2b-b4ab3be9ca98 c66e0b91-0c95-4208-90c7-39a8f030fff1 9 15211327 15211327 A T SNP TTC39B ENST00000512701 human ensembl 74_37 -1 known missense c.551 p.F184Y 1.000 pfam_OMP_IML2_mit/TPR_39 pfam_OMP_IML2_mit/TPR_39,smart_TPR_repeat - no_errors TTC39B HGNC ENSG00000155158 tier1 - - 46 0 0.00 29 17 36.96 76 0 0.00 31 13 29.55 EIF2AK3 0 genome.wustl.edu 37 2 88885426 88885426 + Missense_Mutation SNP G G A TCGA-DX-A7EF-01A-11D-A33E-09 TCGA-DX-A7EF-10A-01D-A33H-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a1c5c19d-3879-4216-ab2b-b4ab3be9ca98 c66e0b91-0c95-4208-90c7-39a8f030fff1 2 88885426 88885426 G A SNP EIF2AK3 ENST00000303236 human ensembl 74_37 -1 known missense c.1583 p.T528M 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Quinonprotein_ADH-like_supfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors EIF2AK3 HGNC ENSG00000172071 tier1 rs200171164 - 115 0 0.00 55 25 30.86 139 0 0.00 71 33 31.43 TMEM211 0 genome.wustl.edu 37 22 25331358 25331358 + Missense_Mutation SNP G G T TCGA-DX-A7EF-01A-11D-A33E-09 TCGA-DX-A7EF-10A-01D-A33H-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a1c5c19d-3879-4216-ab2b-b4ab3be9ca98 c66e0b91-0c95-4208-90c7-39a8f030fff1 22 25331358 25331358 G T SNP TMEM211 ENST00000423535 human ensembl 74_37 -1 known missense c.545 p.T182N 0.024 NULL pfam_Lipome_HGMIC_fus_partner-like - no_errors TMEM211 HGNC ENSG00000206069 tier1 - - 34 0 0.00 10 6 37.50 43 0 0.00 13 11 45.83 BET1 0 genome.wustl.edu 37 7 93605345 93605345 + Silent SNP A A T TCGA-DX-A7EF-01A-11D-A33E-09 TCGA-DX-A7EF-10A-01D-A33H-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a1c5c19d-3879-4216-ab2b-b4ab3be9ca98 c66e0b91-0c95-4208-90c7-39a8f030fff1 7 93605345 93605345 A T SNP BET1 ENST00000357520 human ensembl 74_37 -1 known silent c.303 p.V101 0.007 NULL pfam_T_SRE_dom,pfscan_T_SRE_dom - no_errors BET1 HGNC ENSG00000105829 tier1 - - 61 0 0.00 38 15 28.30 86 0 0.00 40 12 23.08 HOOK1 0 genome.wustl.edu 37 1 60314110 60314110 + Missense_Mutation SNP G G C TCGA-DX-A7EF-01A-11D-A33E-09 TCGA-DX-A7EF-10A-01D-A33H-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a1c5c19d-3879-4216-ab2b-b4ab3be9ca98 c66e0b91-0c95-4208-90c7-39a8f030fff1 1 60314110 60314110 G C SNP HOOK1 ENST00000371208 human ensembl 74_37 +1 known missense c.1053 p.M351I 1.000 pfam_Hook-related_fam pfam_Hook-related_fam,superfamily_Prefoldin - no_errors HOOK1 HGNC ENSG00000134709 tier1 - - 55 0 0.00 28 9 24.32 93 0 0.00 89 18 16.82 NXPH3 0 genome.wustl.edu 37 17 47656469 47656469 + Nonsense_Mutation SNP C C A TCGA-DX-A7EF-01A-11D-A33E-09 TCGA-DX-A7EF-10A-01D-A33H-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a1c5c19d-3879-4216-ab2b-b4ab3be9ca98 c66e0b91-0c95-4208-90c7-39a8f030fff1 17 47656469 47656469 C A SNP NXPH3 ENST00000328741 human ensembl 74_37 +1 known nonsense c.566 p.S189* 0.997 pfam_NXPH/NXPE,pirsf_Neurexophilin pfam_NXPH/NXPE,pirsf_Neurexophilin - no_errors NXPH3 HGNC ENSG00000182575 tier1 - - 34 0 0.00 22 4 15.38 34 0 0.00 31 11 26.19 CCT5 0 genome.wustl.edu 37 5 10261729 10261729 + Missense_Mutation SNP G G A TCGA-DX-A7EF-01A-11D-A33E-09 TCGA-DX-A7EF-10A-01D-A33H-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a1c5c19d-3879-4216-ab2b-b4ab3be9ca98 c66e0b91-0c95-4208-90c7-39a8f030fff1 5 10261729 10261729 G A SNP CCT5 ENST00000280326 human ensembl 74_37 +1 known missense c.1051 p.E351K 0.999 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,tigrfam_Chap_CCT_epsi pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_epsi - no_errors CCT5 HGNC ENSG00000150753 tier1 rs140095139 - 56 0 0.00 60 14 18.92 55 0 0.00 47 6 11.32 EPN3 0 genome.wustl.edu 37 17 48617655 48617655 + Silent SNP G G A TCGA-DX-A7EF-01A-11D-A33E-09 TCGA-DX-A7EF-10A-01D-A33H-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a1c5c19d-3879-4216-ab2b-b4ab3be9ca98 c66e0b91-0c95-4208-90c7-39a8f030fff1 17 48617655 48617655 G A SNP EPN3 ENST00000537145 human ensembl 74_37 +1 known silent c.1023 p.P341 0.952 NULL pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N,pfscan_Ubiquitin-int_motif - no_errors EPN3 HGNC ENSG00000049283 tier1 - - 44 0 0.00 18 6 25.00 50 0 0.00 72 19 20.65 NLGN1 0 genome.wustl.edu 37 3 173997210 173997210 + Silent SNP G G A TCGA-DX-A7EF-01A-11D-A33E-09 TCGA-DX-A7EF-10A-01D-A33H-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a1c5c19d-3879-4216-ab2b-b4ab3be9ca98 c66e0b91-0c95-4208-90c7-39a8f030fff1 3 173997210 173997210 G A SNP NLGN1 ENST00000401917 human ensembl 74_37 +1 known silent c.1539 p.A513 1.000 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN1 HGNC ENSG00000169760 tier1 rs200258151 GMAF=0.0005 44 0 0.00 27 11 28.21 97 0 0.00 95 27 22.13 RRM2 0 genome.wustl.edu 37 2 10269400 10269400 + Missense_Mutation SNP A A G TCGA-DX-A7EF-01A-11D-A33E-09 TCGA-DX-A7EF-10A-01D-A33H-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a1c5c19d-3879-4216-ab2b-b4ab3be9ca98 c66e0b91-0c95-4208-90c7-39a8f030fff1 2 10269400 10269400 A G SNP RRM2 ENST00000360566 human ensembl 74_37 +1 known missense c.1237 p.I413V 1.000 superfamily_Ferritin-like_SF pfam_RNR_small,superfamily_Ferritin-like_SF - no_errors RRM2 HGNC ENSG00000171848 tier1 - - 63 0 0.00 31 28 47.46 67 0 0.00 42 46 52.27 TSC1 0 genome.wustl.edu 37 9 135772703 135772703 + Missense_Mutation SNP T T C TCGA-DX-A7EF-01A-11D-A33E-09 TCGA-DX-A7EF-10A-01D-A33H-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a1c5c19d-3879-4216-ab2b-b4ab3be9ca98 c66e0b91-0c95-4208-90c7-39a8f030fff1 9 135772703 135772703 T C SNP TSC1 ENST00000298552 human ensembl 74_37 -1 known missense c.2843 p.Y948C 1.000 NULL pfam_Hamartin,superfamily_ARM-type_fold - no_errors TSC1 HGNC ENSG00000165699 tier1 - - 69 0 0.00 14 29 67.44 71 0 0.00 25 29 53.70 ZNF790 0 genome.wustl.edu 37 19 37314268 37314268 + Missense_Mutation SNP G G C TCGA-DX-A7EF-01A-11D-A33E-09 TCGA-DX-A7EF-10A-01D-A33H-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a1c5c19d-3879-4216-ab2b-b4ab3be9ca98 c66e0b91-0c95-4208-90c7-39a8f030fff1 19 37314268 37314268 G C SNP ZNF790 ENST00000356725 human ensembl 74_37 -1 known missense c.148 p.Q50E 0.277 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 ZNF790 HGNC ENSG00000197863 tier1 - - 44 0 0.00 12 16 57.14 95 0 0.00 43 37 46.25 ACSL3 0 genome.wustl.edu 37 2 223806326 223806326 + Missense_Mutation SNP A A G TCGA-DX-A7EF-01A-11D-A33E-09 TCGA-DX-A7EF-10A-01D-A33H-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a1c5c19d-3879-4216-ab2b-b4ab3be9ca98 c66e0b91-0c95-4208-90c7-39a8f030fff1 2 223806326 223806326 A G SNP ACSL3 ENST00000357430 human ensembl 74_37 +1 known missense c.2117 p.K706R 1.000 NULL pfam_AMP-dep_Synth/Lig - no_errors ACSL3 HGNC ENSG00000123983 tier1 - - 46 0 0.00 22 10 31.25 97 0 0.00 43 40 48.19 SLC4A10 0 genome.wustl.edu 37 2 162719573 162719573 + Splice_Site SNP G G T TCGA-DX-A7EF-01A-11D-A33E-09 TCGA-DX-A7EF-10A-01D-A33H-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a1c5c19d-3879-4216-ab2b-b4ab3be9ca98 c66e0b91-0c95-4208-90c7-39a8f030fff1 2 162719573 162719573 G T SNP SLC4A10 ENST00000446997 human ensembl 74_37 +1 known splice_site c.766+1 e6+1 1.000 - - - no_errors SLC4A10 HGNC ENSG00000144290 tier1 - - 61 0 0.00 20 19 48.72 153 0 0.00 65 43 39.81 LGALS3BP 0 genome.wustl.edu 37 17 76967850 76967850 + Silent SNP G G A TCGA-DX-A7EF-01A-11D-A33E-09 TCGA-DX-A7EF-10A-01D-A33H-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a1c5c19d-3879-4216-ab2b-b4ab3be9ca98 c66e0b91-0c95-4208-90c7-39a8f030fff1 17 76967850 76967850 G A SNP LGALS3BP ENST00000262776 human ensembl 74_37 -1 known silent c.1566 p.A522 0.981 NULL pfam_SRCR,pfam_BACK,superfamily_Srcr_rcpt-rel,superfamily_BTB/POZ_fold,smart_Srcr_rcpt-rel,smart_BACK,pfscan_BTB/POZ-like,pfscan_SRCR,prints_SRCR - no_errors LGALS3BP HGNC ENSG00000108679 tier1 - - 59 0 0.00 34 12 26.09 10 0 0.00 22 3 12.00 ENSG00000228436 0 genome.wustl.edu 37 1 39341869 39341869 + R SNP T T A TCGA-DX-A7EF-01A-11D-A33E-09 TCGA-DX-A7EF-10A-01D-A33H-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a1c5c19d-3879-4216-ab2b-b4ab3be9ca98 c66e0b91-0c95-4208-90c7-39a8f030fff1 1 39341869 39341869 T A SNP ENSG00000228436 ENST00000443161 human ensembl 74_37 +1 known rna NULL NULL 0.058 - - - no_errors RP5-864K19.4 Clone_based_vega_gene ENSG00000228436 tier1 - - 60 0 0.00 27 16 37.21 94 0 0.00 43 26 37.68 ABCA4 0 genome.wustl.edu 37 1 94463415 94463415 + Splice_Site SNP G G T TCGA-DX-A7EF-01A-11D-A33E-09 TCGA-DX-A7EF-10A-01D-A33H-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a1c5c19d-3879-4216-ab2b-b4ab3be9ca98 c66e0b91-0c95-4208-90c7-39a8f030fff1 1 94463415 94463415 G T SNP ABCA4 ENST00000370225 human ensembl 74_37 -1 known splice_site c.6729+2 e48+2 1.000 - - - no_errors ABCA4 HGNC ENSG00000198691 tier1 - - 40 0 0.00 14 5 26.32 49 0 0.00 33 18 35.29 ABCG5 0 genome.wustl.edu 37 2 44041643 44041643 + Missense_Mutation SNP C C T TCGA-DX-A7EF-01A-11D-A33E-09 TCGA-DX-A7EF-10A-01D-A33H-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a1c5c19d-3879-4216-ab2b-b4ab3be9ca98 c66e0b91-0c95-4208-90c7-39a8f030fff1 2 44041643 44041643 C T SNP ABCG5 ENST00000260645 human ensembl 74_37 -1 known missense c.1735 p.E579K 1.000 pfam_ABC_2_trans pfam_ABC_2_trans,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCG5 HGNC ENSG00000138075 tier1 - - 149 0 0.00 130 41 23.98 146 0 0.00 160 44 21.57 BET1 0 genome.wustl.edu 37 7 93605346 93605346 + Missense_Mutation SNP A A T TCGA-DX-A7EF-01A-11D-A33E-09 TCGA-DX-A7EF-10A-01D-A33H-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a1c5c19d-3879-4216-ab2b-b4ab3be9ca98 c66e0b91-0c95-4208-90c7-39a8f030fff1 7 93605346 93605346 A T SNP BET1 ENST00000357520 human ensembl 74_37 -1 known missense c.302 p.V101D 0.005 NULL pfam_T_SRE_dom,pfscan_T_SRE_dom - no_errors BET1 HGNC ENSG00000105829 tier1 - - 62 0 0.00 39 14 26.42 84 0 0.00 40 12 23.08 PTX4 0 genome.wustl.edu 37 16 1536545 1536545 + Missense_Mutation SNP C C T TCGA-DX-A7EF-01A-11D-A33E-09 TCGA-DX-A7EF-10A-01D-A33H-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a1c5c19d-3879-4216-ab2b-b4ab3be9ca98 c66e0b91-0c95-4208-90c7-39a8f030fff1 16 1536545 1536545 C T SNP PTX4 ENST00000447419 human ensembl 74_37 -1 known missense c.832 p.A278T 0.013 pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin pfam_Pentaxin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin - no_errors PTX4 HGNC ENSG00000251692 tier1 rs148493506 - 12 0 0.00 3 6 66.67 68 0 0.00 86 28 24.35 SEL1L2 0 genome.wustl.edu 37 20 13936777 13936777 + Missense_Mutation SNP G G A TCGA-DX-A7EF-01A-11D-A33E-09 TCGA-DX-A7EF-10A-01D-A33H-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a1c5c19d-3879-4216-ab2b-b4ab3be9ca98 c66e0b91-0c95-4208-90c7-39a8f030fff1 20 13936777 13936777 G A SNP SEL1L2 ENST00000284951 human ensembl 74_37 -1 known missense c.59 p.T20I 0.440 NULL pfam_Sel1-like,smart_Sel1-like - no_errors SEL1L2 HGNC ENSG00000101251 tier1 - - 129 0 0.00 63 26 29.21 87 0 0.00 41 20 32.79 AHK 0 genome.wustl.edu 37 11 62288755 62288755 + Missense_Mutation SNP C C T TCGA-DX-A7EF-01A-11D-A33E-09 TCGA-DX-A7EF-10A-01D-A33H-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a1c5c19d-3879-4216-ab2b-b4ab3be9ca98 c66e0b91-0c95-4208-90c7-39a8f030fff1 11 62288755 62288755 C T SNP AHK ENST00000378024 human ensembl 74_37 -1 known missense c.13134 p.M4378I 1.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHK HGNC ENSG00000124942 tier1 - - 106 0 0.00 49 21 30.00 107 0 0.00 63 22 25.88 BET1 0 genome.wustl.edu 37 7 93605343 93605343 + Missense_Mutation SNP G G A TCGA-DX-A7EF-01A-11D-A33E-09 TCGA-DX-A7EF-10A-01D-A33H-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a1c5c19d-3879-4216-ab2b-b4ab3be9ca98 c66e0b91-0c95-4208-90c7-39a8f030fff1 7 93605343 93605343 G A SNP BET1 ENST00000357520 human ensembl 74_37 -1 known missense c.305 p.P102L 0.017 NULL pfam_T_SRE_dom,pfscan_T_SRE_dom - no_errors BET1 HGNC ENSG00000105829 tier1 - - 62 0 0.00 39 16 29.09 87 0 0.00 40 14 25.93 OR5H14 0 genome.wustl.edu 37 3 97868430 97868430 + Silent SNP T T A TCGA-DX-A7EF-01A-11D-A33E-09 TCGA-DX-A7EF-10A-01D-A33H-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a1c5c19d-3879-4216-ab2b-b4ab3be9ca98 c66e0b91-0c95-4208-90c7-39a8f030fff1 3 97868430 97868430 T A SNP OR5H14 ENST00000437310 human ensembl 74_37 +1 known silent c.201 p.A67 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5H14 HGNC ENSG00000236032 tier1 - - 95 0 0.00 26 20 43.48 69 0 0.00 20 17 45.95 TRPC5 0 genome.wustl.edu 37 X 111090651 111090651 + Missense_Mutation SNP C C T TCGA-DX-A7EF-01A-11D-A33E-09 TCGA-DX-A7EF-10A-01D-A33H-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a1c5c19d-3879-4216-ab2b-b4ab3be9ca98 c66e0b91-0c95-4208-90c7-39a8f030fff1 X 111090651 111090651 C T SNP TRPC5 ENST00000262839 human ensembl 74_37 -1 known missense c.1391 p.R464H 1.000 pfam_Ion_trans_dom,tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC5_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC5 HGNC ENSG00000072315 tier1 - - 38 0 0.00 18 13 41.94 93 0 0.00 81 37 31.09 SDK2 0 genome.wustl.edu 37 17 71382003 71382003 + Missense_Mutation SNP C C A TCGA-DX-A7EF-01A-11D-A33E-09 TCGA-DX-A7EF-10A-01D-A33H-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a1c5c19d-3879-4216-ab2b-b4ab3be9ca98 c66e0b91-0c95-4208-90c7-39a8f030fff1 17 71382003 71382003 C A SNP SDK2 ENST00000392650 human ensembl 74_37 -1 known missense c.4552 p.V1518L 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors SDK2 HGNC ENSG00000069188 tier1 - - 26 0 0.00 24 15 38.46 46 0 0.00 43 30 41.10 DAPP1 0 genome.wustl.edu 37 4 100756843 100756843 + Silent SNP C C T TCGA-DX-A7EF-01A-11D-A33E-09 TCGA-DX-A7EF-10A-01D-A33H-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a1c5c19d-3879-4216-ab2b-b4ab3be9ca98 c66e0b91-0c95-4208-90c7-39a8f030fff1 4 100756843 100756843 C T SNP DAPP1 ENST00000512369 human ensembl 74_37 +1 known silent c.165 p.D55 0.976 pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 pfam_SH2,pfam_Pleckstrin_homology,smart_SH2,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH2,prints_SH2 - no_errors DAPP1 HGNC ENSG00000070190 tier1 - - 41 0 0.00 12 10 45.45 59 0 0.00 32 31 49.21 MAP2K4 0 genome.wustl.edu 37 17 12013743 12013743 + Missense_Mutation SNP G G A TCGA-DX-A7EF-01A-11D-A33E-09 TCGA-DX-A7EF-10A-01D-A33H-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a1c5c19d-3879-4216-ab2b-b4ab3be9ca98 c66e0b91-0c95-4208-90c7-39a8f030fff1 17 12013743 12013743 G A SNP MAP2K4 ENST00000415385 human ensembl 74_37 +1 known missense c.718 p.D240N 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 MAP2K4 HGNC ENSG00000065559 tier1 - - 148 0 0.00 40 19 32.20 152 0 0.00 55 44 44.44 MYBPC1 0 genome.wustl.edu 37 12 102008351 102008351 + R SNP A A G TCGA-DX-A7EF-01A-11D-A33E-09 TCGA-DX-A7EF-10A-01D-A33H-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a1c5c19d-3879-4216-ab2b-b4ab3be9ca98 c66e0b91-0c95-4208-90c7-39a8f030fff1 12 102008351 102008351 A G SNP MYBPC1 ENST00000550501 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors MYBPC1 HGNC ENSG00000196091 tier1 - - 62 0 0.00 32 6 15.79 145 0 0.00 63 45 41.67 ENSG00000260628 0 genome.wustl.edu 37 16 31993452 31993452 + R SNP G G T TCGA-DX-A7EF-01A-11D-A33E-09 TCGA-DX-A7EF-10A-01D-A33H-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a1c5c19d-3879-4216-ab2b-b4ab3be9ca98 c66e0b91-0c95-4208-90c7-39a8f030fff1 16 31993452 31993452 G T SNP ENSG00000260628 ENST00000568570 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-1166P10.1 Clone_based_vega_gene ENSG00000260628 tier1 - - 66 0 0.00 33 9 20.93 15 0 0.00 19 6 24.00 AEBP2 0 genome.wustl.edu 37 12 19667686 19667686 + Missense_Mutation SNP T T A TCGA-DX-A7EF-01A-11D-A33E-09 TCGA-DX-A7EF-10A-01D-A33H-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a1c5c19d-3879-4216-ab2b-b4ab3be9ca98 c66e0b91-0c95-4208-90c7-39a8f030fff1 12 19667686 19667686 T A SNP AEBP2 ENST00000398864 human ensembl 74_37 +1 known missense c.1449 p.D483E 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors AEBP2 HGNC ENSG00000139154 tier1 - - 72 0 0.00 13 15 53.57 135 0 0.00 70 43 38.05 TBC1D22B 0 genome.wustl.edu 37 6 37247153 37247153 + Missense_Mutation SNP G G T TCGA-DX-A7EF-01A-11D-A33E-09 TCGA-DX-A7EF-10A-01D-A33H-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a1c5c19d-3879-4216-ab2b-b4ab3be9ca98 c66e0b91-0c95-4208-90c7-39a8f030fff1 6 37247153 37247153 G T SNP TBC1D22B ENST00000373491 human ensembl 74_37 +1 known missense c.187 p.A63S 1.000 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D22B HGNC ENSG00000065491 tier1 - - 62 0 0.00 39 11 22.00 118 0 0.00 85 33 27.97 SYPL2 0 genome.wustl.edu 37 1 110019410 110019410 + Silent SNP C C T TCGA-DX-A7EF-01A-11D-A33E-09 TCGA-DX-A7EF-10A-01D-A33H-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a1c5c19d-3879-4216-ab2b-b4ab3be9ca98 c66e0b91-0c95-4208-90c7-39a8f030fff1 1 110019410 110019410 C T SNP SYPL2 ENST00000369872 human ensembl 74_37 +1 known silent c.267 p.I89 0.927 pfam_Marvel pfam_Marvel,prints_Synaptophysin/porin - no_errors SYPL2 HGNC ENSG00000143028 tier1 - - 18 0 0.00 23 10 30.30 48 0 0.00 18 14 43.75 MYO3A 0 genome.wustl.edu 37 10 26463350 26463350 + Missense_Mutation SNP T T C TCGA-DX-A7EF-01A-11D-A33E-09 TCGA-DX-A7EF-10A-01D-A33H-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a1c5c19d-3879-4216-ab2b-b4ab3be9ca98 c66e0b91-0c95-4208-90c7-39a8f030fff1 10 26463350 26463350 T C SNP MYO3A ENST00000265944 human ensembl 74_37 +1 known missense c.4157 p.V1386A 0.063 NULL pfam_Myosin_head_motor_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_dom,prints_Myosin_head_motor_dom - no_errors MYO3A HGNC ENSG00000095777 tier1 - - 60 0 0.00 40 13 24.53 126 0 0.00 71 21 22.83 MET 0 genome.wustl.edu 37 7 116339237 116339237 + Silent SNP C C T TCGA-DX-A7EF-01A-11D-A33E-09 TCGA-DX-A7EF-10A-01D-A33H-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a1c5c19d-3879-4216-ab2b-b4ab3be9ca98 c66e0b91-0c95-4208-90c7-39a8f030fff1 7 116339237 116339237 C T SNP MET ENST00000318493 human ensembl 74_37 +1 known silent c.99 p.S33 0.005 pirsf_Tyr_kinase_HGF/MSP_rcpt,pfscan_Semap_dom pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semap_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Semap_dom,pfscan_Prot_kinase_dom - no_errors MET HGNC ENSG00000105976 tier1 - - 70 0 0.00 33 38 53.52 120 0 0.00 63 101 61.59 BET1 0 genome.wustl.edu 37 7 93605300 93605300 + Silent SNP G G A TCGA-DX-A7EF-01A-11D-A33E-09 TCGA-DX-A7EF-10A-01D-A33H-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a1c5c19d-3879-4216-ab2b-b4ab3be9ca98 c66e0b91-0c95-4208-90c7-39a8f030fff1 7 93605300 93605300 G A SNP BET1 ENST00000357520 human ensembl 74_37 -1 known silent c.348 p.F116 0.136 NULL pfam_T_SRE_dom,pfscan_T_SRE_dom - no_errors BET1 HGNC ENSG00000105829 tier1 - - 59 0 0.00 34 31 47.69 82 0 0.00 33 18 35.29 IGFN1 0 genome.wustl.edu 37 1 201181230 201181230 + Missense_Mutation SNP G G T TCGA-DX-A7EF-01A-11D-A33E-09 TCGA-DX-A7EF-10A-01D-A33H-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a1c5c19d-3879-4216-ab2b-b4ab3be9ca98 c66e0b91-0c95-4208-90c7-39a8f030fff1 1 201181230 201181230 G T SNP IGFN1 ENST00000335211 human ensembl 74_37 +1 known missense c.7209 p.K2403N 0.000 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors IGFN1 HGNC ENSG00000163395 tier1 - - 28 0 0.00 6 12 66.67 72 0 0.00 23 41 63.08 OPN1SW 0 genome.wustl.edu 37 7 128415802 128415802 + Missense_Mutation SNP T T G TCGA-DX-A7EF-01A-11D-A33E-09 TCGA-DX-A7EF-10A-01D-A33H-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a1c5c19d-3879-4216-ab2b-b4ab3be9ca98 c66e0b91-0c95-4208-90c7-39a8f030fff1 7 128415802 128415802 T G SNP OPN1SW ENST00000249389 human ensembl 74_37 -1 known missense c.43 p.I15L 0.972 prints_Opsin_blue pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Opsin_blue,prints_GPCR_Rhodpsn,prints_Opsin - no_errors OPN1SW HGNC ENSG00000128617 tier1 rs200504235 GMAF=0.0005 59 0 0.00 80 28 25.93 97 0 0.00 141 65 31.55 NOMO2 0 genome.wustl.edu 37 16 18554998 18554998 + Missense_Mutation SNP C C G TCGA-DX-A7EF-01A-11D-A33E-09 TCGA-DX-A7EF-10A-01D-A33H-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a1c5c19d-3879-4216-ab2b-b4ab3be9ca98 c66e0b91-0c95-4208-90c7-39a8f030fff1 16 18554998 18554998 C G SNP NOMO2 ENST00000381474 human ensembl 74_37 -1 known missense c.676 p.D226H 1.000 superfamily_CarboxyPept-like_regulatory pfam_DUF2012,superfamily_Carb-bd-like_fold,superfamily_CarboxyPept-like_regulatory,superfamily_Collagen-bd_Cna_B-typ_dom - no_errors NOMO2 HGNC ENSG00000185164 tier1 - - 156 0 0.00 133 18 11.92 50 0 0.00 55 8 12.70 GRAP2 0 genome.wustl.edu 37 22 40351885 40351885 + Silent SNP C C T TCGA-DX-A7EF-01A-11D-A33E-09 TCGA-DX-A7EF-10A-01D-A33H-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a1c5c19d-3879-4216-ab2b-b4ab3be9ca98 c66e0b91-0c95-4208-90c7-39a8f030fff1 22 40351885 40351885 C T SNP GRAP2 ENST00000344138 human ensembl 74_37 +1 known silent c.141 p.P47 1.000 pfam_SH3_domain,pfam_SH3_2,smart_SH3_domain,pfscan_SH3_domain pfam_SH3_domain,pfam_SH2,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,pfscan_SH2,pfscan_SH3_domain,prints_SH2,prints_SH3_domain - no_errors GRAP2 HGNC ENSG00000100351 tier1 - - 62 0 0.00 18 40 68.97 111 0 0.00 53 49 48.04 PKD1L2 0 genome.wustl.edu 37 16 81208264 81208264 + Missense_Mutation SNP C C T TCGA-DX-A7EF-01A-11D-A33E-09 TCGA-DX-A7EF-10A-01D-A33H-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a1c5c19d-3879-4216-ab2b-b4ab3be9ca98 c66e0b91-0c95-4208-90c7-39a8f030fff1 16 81208264 81208264 C T SNP PKD1L2 ENST00000527937 human ensembl 74_37 -1 known missense c.607 p.V203M 0.000 pfscan_REJ-like superfamily_Coatomer/clathrin_app_Ig-like,pfscan_REJ-like - no_errors PKD1L2 HGNC ENSG00000166473 tier1 - - 53 0 0.00 29 13 30.95 84 0 0.00 75 16 17.58 GPR158 0 genome.wustl.edu 37 10 25891039 25891039 + R DEL A A - TCGA-DX-A7EF-01A-11D-A33E-09 TCGA-DX-A7EF-10A-01D-A33H-09 A A A - A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a1c5c19d-3879-4216-ab2b-b4ab3be9ca98 c66e0b91-0c95-4208-90c7-39a8f030fff1 10 25891039 25891039 A - DEL GPR158 ENST00000490549 human ensembl 74_37 +1 known rna NULL NULL 0.994 - - - no_errors GPR158 HGNC ENSG00000151025 tier1 49 0 0.00 21 12 36.36 149 0 0.00 66 37 35.92 ZNF335 0 genome.wustl.edu 37 20 44578874 44578876 + In_Frame_Del DEL TGT TGT - TCGA-DX-A7EF-01A-11D-A33E-09 TCGA-DX-A7EF-10A-01D-A33H-09 TGT TGT TGT - TGT TGT Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a1c5c19d-3879-4216-ab2b-b4ab3be9ca98 c66e0b91-0c95-4208-90c7-39a8f030fff1 20 44578874 44578876 TGT - DEL ZNF335 ENST00000322927 human ensembl 74_37 -1 known in_frame_del c.3471_3469 p.T1157in_frame_del 0.141:0.993:0.993 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF335 HGNC ENSG00000198026 tier1 35 0 0.00 30 5 14.29 59 0 0.00 75 16 17.58 SLC9A8 0 genome.wustl.edu 37 20 48467301 48467301 + Frame_Shift_Del DEL T T - TCGA-DX-A7EF-01A-11D-A33E-09 TCGA-DX-A7EF-10A-01D-A33H-09 T T T - T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a1c5c19d-3879-4216-ab2b-b4ab3be9ca98 c66e0b91-0c95-4208-90c7-39a8f030fff1 20 48467301 48467301 T - DEL SLC9A8 ENST00000417961 human ensembl 74_37 +1 known frame_shift_del c.537 p.F182fs 0.189 pfam_Cation/H_exchanger,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A8 HGNC ENSG00000197818 tier1 19 0 0.00 15 6 28.57 45 0 0.00 50 10 16.67 PTTG1IP 0 genome.wustl.edu 37 21 46276273 46276276 + Frame_Shift_Del DEL AAGT AAGT - TCGA-DX-A7EF-01A-11D-A33E-09 TCGA-DX-A7EF-10A-01D-A33H-09 AAGT AAGT AAGT - AAGT AAGT Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a1c5c19d-3879-4216-ab2b-b4ab3be9ca98 c66e0b91-0c95-4208-90c7-39a8f030fff1 21 46276273 46276276 AAGT - DEL PTTG1IP ENST00000330938 human ensembl 74_37 -1 known frame_shift_del c.284_281 p.N94fs 0.995:1.000:1.000:1.000 NULL smart_Plexin-like_fold - no_errors PTTG1IP HGNC ENSG00000183255 tier1 45 0 0.00 20 3 13.04 121 0 0.00 52 21 28.77 ADIRF-AS1 0 genome.wustl.edu 37 10 88728453 88728453 + R SNP T T A TCGA-DX-A7EF-01A-11D-A33E-09 TCGA-DX-A7EF-10A-01D-A33H-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a1c5c19d-3879-4216-ab2b-b4ab3be9ca98 c66e0b91-0c95-4208-90c7-39a8f030fff1 10 88728453 88728453 T A SNP ADIRF-AS1 ENST00000609111 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ADIRF-AS1 HGNC ENSG00000272734 tier1 - - 13 0 0.00 1 7 87.50 19 0 0.00 5 3 33.33 ALMS1 0 genome.wustl.edu 37 2 73827825 73827825 + Missense_Mutation SNP G G A TCGA-DX-A7EF-01A-11D-A33E-09 TCGA-DX-A7EF-10A-01D-A33H-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a1c5c19d-3879-4216-ab2b-b4ab3be9ca98 c66e0b91-0c95-4208-90c7-39a8f030fff1 2 73827825 73827825 G A SNP ALMS1 ENST00000264448 human ensembl 74_37 +1 known missense c.11686 p.G3896S 0.127 NULL NULL - no_errors ALMS1 HGNC ENSG00000116127 tier1 rs187887110 GMAF=0.0005 95 0 0.00 7 37 84.09 112 0 0.00 6 39 86.67 ENSG00000229743 0 genome.wustl.edu 37 2 105484676 105484676 + R SNP C C G TCGA-DX-A7EF-01A-11D-A33E-09 TCGA-DX-A7EF-10A-01D-A33H-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a1c5c19d-3879-4216-ab2b-b4ab3be9ca98 c66e0b91-0c95-4208-90c7-39a8f030fff1 2 105484676 105484676 C G SNP ENSG00000229743 ENST00000433433 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors AC018730.3 Clone_based_vega_gene ENSG00000229743 tier1 - - 50 0 0.00 14 17 54.84 24 0 0.00 7 9 56.25 KNDC1 0 genome.wustl.edu 37 10 134980985 134980985 + Missense_Mutation SNP G G C TCGA-DX-A7EF-01A-11D-A33E-09 TCGA-DX-A7EF-10A-01D-A33H-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a1c5c19d-3879-4216-ab2b-b4ab3be9ca98 c66e0b91-0c95-4208-90c7-39a8f030fff1 10 134980985 134980985 G C SNP KNDC1 ENST00000368572 human ensembl 74_37 +1 known missense c.203 p.S68T 1.000 smart_KIND pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_Kinase-like_dom,smart_KIND,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors KNDC1 HGNC ENSG00000171798 tier1 - - 56 0 0.00 21 15 41.67 9 0 0.00 5 3 37.50 PCDH20 0 genome.wustl.edu 37 13 61987993 61987994 + Frame_Shift_Ins INS - - C TCGA-DX-A7EF-01A-11D-A33E-09 TCGA-DX-A7EF-10A-01D-A33H-09 - - - C - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a1c5c19d-3879-4216-ab2b-b4ab3be9ca98 c66e0b91-0c95-4208-90c7-39a8f030fff1 13 61987993 61987994 - C INS PCDH20 ENST00000409186 human ensembl 74_37 -1 known frame_shift_ins c.239_238 p.V80fs 1.000:0.994 pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH20 HGNC ENSG00000197991 tier1 18 0 0.00 8 3 27.27 20 0 0.00 6 4 40.00 PCDH7 0 genome.wustl.edu 37 4 30723421 30723421 + Missense_Mutation SNP T T A TCGA-DX-A7EF-01A-11D-A33E-09 TCGA-DX-A7EF-10A-01D-A33H-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a1c5c19d-3879-4216-ab2b-b4ab3be9ca98 c66e0b91-0c95-4208-90c7-39a8f030fff1 4 30723421 30723421 T A SNP PCDH7 ENST00000543491 human ensembl 74_37 +1 known missense c.377 p.L126Q 1.000 smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH7 HGNC ENSG00000169851 tier1 - - 61 0 0.00 5 10 66.67 60 0 0.00 5 21 80.77 TMEM132A 0 genome.wustl.edu 37 11 60704165 60704165 + Missense_Mutation SNP G G A TCGA-DX-A7EF-01A-11D-A33E-09 TCGA-DX-A7EF-10A-01D-A33H-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a1c5c19d-3879-4216-ab2b-b4ab3be9ca98 c66e0b91-0c95-4208-90c7-39a8f030fff1 11 60704165 60704165 G A SNP TMEM132A ENST00000005286 human ensembl 74_37 +1 known missense c.2861 p.R954Q 0.905 NULL NULL - no_errors TMEM132A HGNC ENSG00000006118 tier1 - - 41 0 0.00 22 6 21.43 20 0 0.00 8 2 20.00 KIAA2022 0 genome.wustl.edu 37 X 73961334 73961334 + Missense_Mutation SNP C C A TCGA-DX-A7EF-01A-11D-A33E-09 TCGA-DX-A7EF-10A-01D-A33H-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a1c5c19d-3879-4216-ab2b-b4ab3be9ca98 c66e0b91-0c95-4208-90c7-39a8f030fff1 X 73961334 73961334 C A SNP KIAA2022 ENST00000055682 human ensembl 74_37 -1 known missense c.3058 p.D1020Y 1.000 NULL NULL - no_errors KIAA2022 HGNC ENSG00000050030 tier1 - - 37 0 0.00 14 3 17.65 127 0 0.00 83 9 9.78 TUBGCP5 0 genome.wustl.edu 37 15 22851033 22851033 + Missense_Mutation SNP G G T TCGA-DX-A7EF-01A-11D-A33E-09 TCGA-DX-A7EF-10A-01D-A33H-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a1c5c19d-3879-4216-ab2b-b4ab3be9ca98 c66e0b91-0c95-4208-90c7-39a8f030fff1 15 22851033 22851033 G T SNP TUBGCP5 ENST00000283645 human ensembl 74_37 +1 known missense c.1295 p.R432L 1.000 pfam_TUBGCP pfam_TUBGCP - no_errors TUBGCP5 HGNC ENSG00000153575 tier1 - - 47 0 0.00 23 7 23.33 150 0 0.00 86 9 9.47 JUN 0 genome.wustl.edu 37 1 59248443 59248443 + Silent SNP G G A TCGA-DX-A7EF-01A-11D-A33E-09 TCGA-DX-A7EF-10A-01D-A33H-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a1c5c19d-3879-4216-ab2b-b4ab3be9ca98 c66e0b91-0c95-4208-90c7-39a8f030fff1 1 59248443 59248443 G A SNP JUN ENST00000371222 human ensembl 74_37 -1 known silent c.300 p.P100 1.000 pfam_JNK pfam_JNK,pfam_bZIP,superfamily_TF_D-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Jun - no_errors JUN HGNC ENSG00000177606 tier1 - - 43 0 0.00 119 14 10.53 34 0 0.00 144 11 7.10 COL19A1 0 genome.wustl.edu 37 6 70909399 70909399 + Missense_Mutation SNP A A C TCGA-DX-A7EF-01A-11D-A33E-09 TCGA-DX-A7EF-10A-01D-A33H-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a1c5c19d-3879-4216-ab2b-b4ab3be9ca98 c66e0b91-0c95-4208-90c7-39a8f030fff1 6 70909399 70909399 A C SNP COL19A1 ENST00000322773 human ensembl 74_37 +1 known missense c.3182 p.K1061T 1.000 NULL pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL19A1 HGNC ENSG00000082293 tier1 - - 86 0 0.00 48 5 9.43 90 0 0.00 79 6 7.06 SLC13A4 0 genome.wustl.edu 37 7 135366355 135366355 + Missense_Mutation SNP A A G TCGA-DX-A7EF-01A-11D-A33E-09 TCGA-DX-A7EF-10A-01D-A33H-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a1c5c19d-3879-4216-ab2b-b4ab3be9ca98 c66e0b91-0c95-4208-90c7-39a8f030fff1 7 135366355 135366355 A G SNP SLC13A4 ENST00000354042 human ensembl 74_37 -1 known missense c.1837 p.Y613H 1.000 NULL pfam_Na/sul_symport,pfam_Cit_transptr-like_dom,pfam_DctM - no_errors SLC13A4 HGNC ENSG00000164707 tier1 - - 66 0 0.00 146 18 10.98 130 0 0.00 485 24 4.71 ENSG00000228532 0 genome.wustl.edu 37 X 114953402 114953402 + Nonsense_Mutation SNP G G A TCGA-DX-A7EF-01A-11D-A33E-09 TCGA-DX-A7EF-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c5c19d-3879-4216-ab2b-b4ab3be9ca98 c66e0b91-0c95-4208-90c7-39a8f030fff1 X 114953402 114953402 G A SNP ENSG00000228532 ENST00000449327 human ensembl 74_37 -1 novel nonsense c.148 p.R50* 0.673 pfam_Rad60/SUMO_like,pfam_Ubiquitin_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup pfam_Rad60/SUMO_like,pfam_Ubiquitin_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup - no_errors RP1-241P17.4 Clone_based_vega_gene ENSG00000228532 tier1 - - 96 0 0.00 27 25 48.08 0 0 0.00 0 0 0.00 MUC4 0 genome.wustl.edu 37 3 195506473 195506473 + Missense_Mutation SNP A A G TCGA-DX-A7EF-01A-11D-A33E-09 TCGA-DX-A7EF-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c5c19d-3879-4216-ab2b-b4ab3be9ca98 c66e0b91-0c95-4208-90c7-39a8f030fff1 3 195506473 195506473 A G SNP MUC4 ENST00000463781 human ensembl 74_37 -1 known missense c.11978 p.V3993A 0.000 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 tier1 rs201922637 - 14 0 0.00 5 4 44.44 0 0 0.00 0 0 0.00 PRAMEF11 0 genome.wustl.edu 37 1 12887523 12887523 + Missense_Mutation SNP C C T TCGA-DX-A7EF-01A-11D-A33E-09 TCGA-DX-A7EF-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c5c19d-3879-4216-ab2b-b4ab3be9ca98 c66e0b91-0c95-4208-90c7-39a8f030fff1 1 12887523 12887523 C T SNP PRAMEF11 ENST00000535591 human ensembl 74_37 -1 known missense c.334 p.E112K 0.020 NULL NULL - no_errors PRAMEF11 HGNC ENSG00000204513 tier1 - - 240 0 0.00 83 71 46.10 0 0 0.00 0 0 0.00 SSTR3 0 genome.wustl.edu 37 22 37603369 37603369 + Silent SNP C C T TCGA-DX-A7EF-01A-11D-A33E-09 TCGA-DX-A7EF-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c5c19d-3879-4216-ab2b-b4ab3be9ca98 c66e0b91-0c95-4208-90c7-39a8f030fff1 22 37603369 37603369 C T SNP SSTR3 ENST00000328544 human ensembl 74_37 -1 known silent c.474 p.P158 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Somatstn_rcpt_3,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt,prints_Somatstn_rcpt_5,prints_Neuropept_B/W_rcpt - no_errors SSTR3 HGNC ENSG00000183473 tier1 - - 18 0 0.00 7 12 63.16 2 0 0.00 0 0 0.00 ENSG00000260973 0 genome.wustl.edu 37 16 22623130 22623130 + R SNP G G A TCGA-DX-A7EF-01A-11D-A33E-09 TCGA-DX-A7EF-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a1c5c19d-3879-4216-ab2b-b4ab3be9ca98 c66e0b91-0c95-4208-90c7-39a8f030fff1 16 22623130 22623130 G A SNP ENSG00000260973 ENST00000567401 human ensembl 74_37 -1 known rna NULL NULL 0.395 - - - no_errors RP11-105C19.2 Clone_based_vega_gene ENSG00000260973 tier1 - - 49 0 0.00 34 7 17.07 37 0 0.00 30 2 6.25