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 rsID rsID_ref_var_alleles CAF normal_ref_reads normal_var_reads normal_vaf tumor_ref_reads tumor_var_reads tumor_vaf normal_ref_reads_val normal_var_reads_val normal_vaf_val tumor_ref_reads_val tumor_var_reads_val tumor_vaf_val FAM47A 0 genome.wustl.edu 37 X 34149546 34149546 + Missense_Mutation SNP C C T TCGA-5U-AB0D-01A-11D-A423-09 TCGA-5U-AB0D-10A-01D-A426-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65797cd5-d594-4b25-ba60-bf64c52bffbe bd0b90dc-78fd-4951-8c1f-ac242acf62d3 X 34149546 34149546 C T SNP FAM47A ENST00000346193 human ensembl 74_37 -1 known missense c.850 p.E284K 0.061 NULL NULL 0 no_errors 0 0 0 125 0 0 182 34 15.67 107 0 0.00 218 54 19.85 ALAS2 0 genome.wustl.edu 37 X 55042031 55042031 + Missense_Mutation SNP T T A TCGA-5U-AB0D-01A-11D-A423-09 TCGA-5U-AB0D-10A-01D-A426-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65797cd5-d594-4b25-ba60-bf64c52bffbe bd0b90dc-78fd-4951-8c1f-ac242acf62d3 X 55042031 55042031 T A SNP ALAS2 ENST00000330807 human ensembl 74_37 -1 known missense c.1148 p.D383V 1 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase,tigrfam_4pyrrol_synth_NH2levulA_synth pfam_Aminotransferase_I/II,pfam_5aminolev_synth_preseq,pfam_Aminotrans_V/Cys_dSase,pfam_Cys/Met-Metab_PyrdxlP-dep_enz,superfamily_PyrdxlP-dep_Trfase,tigrfam_4pyrrol_synth_NH2levulA_synth 0 no_errors 0 0 0 46 0 0 58 11 15.94 211 0 0.00 275 55 16.67 OGT 0 genome.wustl.edu 37 X 70787885 70787885 + Missense_Mutation SNP G G A TCGA-5U-AB0D-01A-11D-A423-09 TCGA-5U-AB0D-10A-01D-A426-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65797cd5-d594-4b25-ba60-bf64c52bffbe bd0b90dc-78fd-4951-8c1f-ac242acf62d3 X 70787885 70787885 G A SNP OGT ENST00000373719 human ensembl 74_37 1 known missense c.2885 p.C962Y 1 NULL pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom 0 no_errors 0 0 0 84 0 0 167 33 16.5 199 0 0.00 291 42 12.57 FRMPD3 0 genome.wustl.edu 37 X 106808130 106808130 + Missense_Mutation SNP C C T TCGA-5U-AB0D-01A-11D-A423-09 TCGA-5U-AB0D-10A-01D-A426-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65797cd5-d594-4b25-ba60-bf64c52bffbe bd0b90dc-78fd-4951-8c1f-ac242acf62d3 X 106808130 106808130 C T SNP FRMPD3 ENST00000276185 human ensembl 74_37 1 known missense c.1229 p.S410L 0.991 pfscan_FERM_domain pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ 0 no_errors 0 0 0 25 0 0 21 7 25 112 0 0.00 89 38 29.92 HTATSF1 0 genome.wustl.edu 37 X 135593719 135593719 + Missense_Mutation SNP C C A TCGA-5U-AB0D-01A-11D-A423-09 TCGA-5U-AB0D-10A-01D-A426-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65797cd5-d594-4b25-ba60-bf64c52bffbe bd0b90dc-78fd-4951-8c1f-ac242acf62d3 X 135593719 135593719 C A SNP HTATSF1 ENST00000218364 human ensembl 74_37 1 known missense c.1815 p.D605E 0.184 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom 0 no_errors 0 0 0 87 0 0 143 27 15.88 210 0 0.00 315 59 15.69 MECP2 0 genome.wustl.edu 37 X 153297697 153297697 + Missense_Mutation SNP G G A TCGA-5U-AB0D-01A-11D-A423-09 TCGA-5U-AB0D-10A-01D-A426-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65797cd5-d594-4b25-ba60-bf64c52bffbe bd0b90dc-78fd-4951-8c1f-ac242acf62d3 X 153297697 153297697 G A SNP MECP2 ENST00000303391 human ensembl 74_37 -1 known missense c.338 p.S113F 1 pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pirsf_Me_CpG-bd_MeCP2,pfscan_Methyl_CpG_DNA-bd pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,superfamily_Ig_E-set,smart_Methyl_CpG_DNA-bd,pirsf_Me_CpG-bd_MeCP2,pfscan_Methyl_CpG_DNA-bd 0 no_errors 0 0 0 57 0 0 24 31 56.36 227 0 0.00 162 144 46.91 VBP1 0 genome.wustl.edu 37 X 154448565 154448565 + Missense_Mutation SNP C C T TCGA-5U-AB0D-01A-11D-A423-09 TCGA-5U-AB0D-10A-01D-A426-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65797cd5-d594-4b25-ba60-bf64c52bffbe bd0b90dc-78fd-4951-8c1f-ac242acf62d3 X 154448565 154448565 C T SNP VBP1 ENST00000286428 human ensembl 74_37 1 known missense c.199 p.L67F 0.999 pfam_Prefoldin_subunit_alpha,superfamily_Prefoldin,pirsf_Prefoldin_su-3 pfam_Prefoldin_subunit_alpha,superfamily_Prefoldin,pirsf_Prefoldin_su-3 0 no_errors 0 0 0 150 0 0 483 87 15.18 247 0 0.00 424 70 14.14 SPOCD1 0 genome.wustl.edu 37 1 32256617 32256617 + Missense_Mutation SNP G G A TCGA-5U-AB0D-01A-11D-A423-09 TCGA-5U-AB0D-10A-01D-A426-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65797cd5-d594-4b25-ba60-bf64c52bffbe bd0b90dc-78fd-4951-8c1f-ac242acf62d3 1 32256617 32256617 G A SNP SPOCD1 ENST00000360482 human ensembl 74_37 -1 known missense c.3238 p.P1080S 0.827 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,superfamily_TFIIS_cen_dom,smart_TFS2M 0 no_errors 0 0 0 53 0 0 15 15 50 51 0 0.00 21 8 27.59 NRD1 0 genome.wustl.edu 37 1 52276077 52276077 + Splice_Site SNP C C T TCGA-5U-AB0D-01A-11D-A423-09 TCGA-5U-AB0D-10A-01D-A426-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65797cd5-d594-4b25-ba60-bf64c52bffbe bd0b90dc-78fd-4951-8c1f-ac242acf62d3 1 52276077 52276077 C T SNP NRD1 ENST00000354831 human ensembl 74_37 -1 known splice_site c.1984-1 e18-1 1 0 0 0 no_errors 0 0 0 50 0 0 82 33 28.7 222 1 0.45 190 62 24.51 SNX7 0 genome.wustl.edu 37 1 99127441 99127441 + Missense_Mutation SNP G G A TCGA-5U-AB0D-01A-11D-A423-09 TCGA-5U-AB0D-10A-01D-A426-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65797cd5-d594-4b25-ba60-bf64c52bffbe bd0b90dc-78fd-4951-8c1f-ac242acf62d3 1 99127441 99127441 G A SNP SNX7 ENST00000306121 human ensembl 74_37 1 known missense c.154 p.E52K 1 NULL pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox 0 no_errors 0 0 0 36 0 0 21 7 25 94 0 0.00 89 25 21.93 ADAMTSL4 0 genome.wustl.edu 37 1 150525906 150525906 + Missense_Mutation SNP C C T TCGA-5U-AB0D-01A-11D-A423-09 TCGA-5U-AB0D-10A-01D-A426-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65797cd5-d594-4b25-ba60-bf64c52bffbe bd0b90dc-78fd-4951-8c1f-ac242acf62d3 1 150525906 150525906 C T SNP ADAMTSL4 ENST00000369039 human ensembl 74_37 1 known missense c.439 p.R147W 1 pfscan_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt 0 no_errors 0 0 0 57 0 0 31 5 13.89 161 0 0.00 142 70 33.02 OR10Z1 0 genome.wustl.edu 37 1 158576545 158576545 + Missense_Mutation SNP C C T TCGA-5U-AB0D-01A-11D-A423-09 TCGA-5U-AB0D-10A-01D-A426-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65797cd5-d594-4b25-ba60-bf64c52bffbe bd0b90dc-78fd-4951-8c1f-ac242acf62d3 1 158576545 158576545 C T SNP OR10Z1 ENST00000361284 human ensembl 74_37 1 known missense c.317 p.S106L 0.002 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 0 no_errors 0 0 0 34 0 0 20 4 16.67 72 0 0.00 117 18 13.24 ADAM17 0 genome.wustl.edu 37 2 9661424 9661424 + Missense_Mutation SNP G G C TCGA-5U-AB0D-01A-11D-A423-09 TCGA-5U-AB0D-10A-01D-A426-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65797cd5-d594-4b25-ba60-bf64c52bffbe bd0b90dc-78fd-4951-8c1f-ac242acf62d3 2 9661424 9661424 G C SNP ADAM17 ENST00000310823 human ensembl 74_37 -1 known missense c.865 p.Q289E 0.958 pfscan_Peptidase_M12B pfam_Blood-coag_inhib_Disintegrin,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B 0 no_errors 0 0 0 71 0 0 139 16 10.32 234 1 0.42 362 73 16.78 GMCL1 0 genome.wustl.edu 37 2 70066635 70066635 + Missense_Mutation SNP G G T TCGA-5U-AB0D-01A-11D-A423-09 TCGA-5U-AB0D-10A-01D-A426-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65797cd5-d594-4b25-ba60-bf64c52bffbe bd0b90dc-78fd-4951-8c1f-ac242acf62d3 2 70066635 70066635 G T SNP GMCL1 ENST00000282570 human ensembl 74_37 1 known missense c.431 p.S144I 1 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like 0 no_errors 0 0 0 83 0 0 166 85 33.86 107 0 0.00 144 86 37.23 CHST10 0 genome.wustl.edu 37 2 101019055 101019055 + Nonsense_Mutation SNP C C A TCGA-5U-AB0D-01A-11D-A423-09 TCGA-5U-AB0D-10A-01D-A426-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65797cd5-d594-4b25-ba60-bf64c52bffbe bd0b90dc-78fd-4951-8c1f-ac242acf62d3 2 101019055 101019055 C A SNP CHST10 ENST00000542617 human ensembl 74_37 -1 known nonsense c.307 p.E103* 0.919 NULL pfam_Sulfotransferase,superfamily_P-loop_NTPase 0 no_errors 0 0 0 30 0 0 28 3 9.68 125 0 0.00 73 21 22.11 ANO7 0 genome.wustl.edu 37 2 242149889 242149889 + Missense_Mutation SNP C C T TCGA-5U-AB0D-01A-11D-A423-09 TCGA-5U-AB0D-10A-01D-A426-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65797cd5-d594-4b25-ba60-bf64c52bffbe bd0b90dc-78fd-4951-8c1f-ac242acf62d3 2 242149889 242149889 C T SNP ANO7 ENST00000274979 human ensembl 74_37 1 known missense c.1627 p.R543C 0 pfam_Anoctamin pfam_Anoctamin 0 no_errors rs184837414 C->G,T 0 26 0 0 17 7 29.17 150 0 0.00 103 26 20.16 SCAP 0 genome.wustl.edu 37 3 47455441 47455441 + Missense_Mutation SNP C C T TCGA-5U-AB0D-01A-11D-A423-09 TCGA-5U-AB0D-10A-01D-A426-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65797cd5-d594-4b25-ba60-bf64c52bffbe bd0b90dc-78fd-4951-8c1f-ac242acf62d3 3 47455441 47455441 C T SNP SCAP ENST00000265565 human ensembl 74_37 -1 known missense c.3743 p.R1248H 1 NULL pfam_Patched,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_SSD,pfscan_WD40_repeat,pfscan_WD40_repeat_dom 0 no_errors rs185806499 C->T 0.9998,0.0001997 54 0 0 22 18 43.9 118 0 0.00 92 79 46.20 MUC4 0 genome.wustl.edu 37 3 195513493 195513493 + Missense_Mutation SNP C C T TCGA-5U-AB0D-01A-11D-A423-09 TCGA-5U-AB0D-10A-01D-A426-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65797cd5-d594-4b25-ba60-bf64c52bffbe bd0b90dc-78fd-4951-8c1f-ac242acf62d3 3 195513493 195513493 C T SNP MUC4 ENST00000463781 human ensembl 74_37 -1 known missense c.4958 p.S1653N 0 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 0 no_errors 0 0 0 105 0 0 213 21 8.61 33 0 0.00 32 3 8.33 MUC4 0 genome.wustl.edu 37 3 195513494 195513494 + Missense_Mutation SNP T T C TCGA-5U-AB0D-01A-11D-A423-09 TCGA-5U-AB0D-10A-01D-A426-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65797cd5-d594-4b25-ba60-bf64c52bffbe bd0b90dc-78fd-4951-8c1f-ac242acf62d3 3 195513494 195513494 T C SNP MUC4 ENST00000463781 human ensembl 74_37 -1 known missense c.4957 p.S1653G 0.014 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 0 no_errors 0 0 0 109 1 0.91 222 21 8.54 34 0 0.00 34 4 10.53 EVC2 0 genome.wustl.edu 37 4 5642519 5642519 + Missense_Mutation SNP A A G TCGA-5U-AB0D-01A-11D-A423-09 TCGA-5U-AB0D-10A-01D-A426-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65797cd5-d594-4b25-ba60-bf64c52bffbe bd0b90dc-78fd-4951-8c1f-ac242acf62d3 4 5642519 5642519 A G SNP EVC2 ENST00000344408 human ensembl 74_37 -1 known missense c.1192 p.C398R 0.991 pfam_Limbin pfam_Limbin 0 no_errors 0 0 0 33 0 0 19 23 54.76 151 1 0.66 102 68 40.00 SORCS2 0 genome.wustl.edu 37 4 7533320 7533320 + Silent SNP C C T TCGA-5U-AB0D-01A-11D-A423-09 TCGA-5U-AB0D-10A-01D-A426-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65797cd5-d594-4b25-ba60-bf64c52bffbe bd0b90dc-78fd-4951-8c1f-ac242acf62d3 4 7533320 7533320 C T SNP SORCS2 ENST00000507866 human ensembl 74_37 1 known silent c.612 p.I204 0.983 smart_VPS10 pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,smart_PKD/Chitinase_dom,pfscan_PKD_dom 0 no_errors 0 0 0 32 0 0 21 8 27.59 181 0 0.00 173 26 13.07 GNPDA2 0 genome.wustl.edu 37 4 44719295 44719295 + Missense_Mutation SNP G G T TCGA-5U-AB0D-01A-11D-A423-09 TCGA-5U-AB0D-10A-01D-A426-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65797cd5-d594-4b25-ba60-bf64c52bffbe bd0b90dc-78fd-4951-8c1f-ac242acf62d3 4 44719295 44719295 G T SNP GNPDA2 ENST00000295448 human ensembl 74_37 -1 known missense c.244 p.P82T 1 pfam_Glc/Gal-6P_isomerase,tigrfam_Glucosamine6P_isomerase pfam_Glc/Gal-6P_isomerase,tigrfam_Glucosamine6P_isomerase 0 no_errors 0 0 0 70 0 0 205 47 18.58 173 0 0.00 288 61 17.48 AFF1 0 genome.wustl.edu 37 4 88047346 88047346 + Missense_Mutation SNP A A C TCGA-5U-AB0D-01A-11D-A423-09 TCGA-5U-AB0D-10A-01D-A426-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65797cd5-d594-4b25-ba60-bf64c52bffbe bd0b90dc-78fd-4951-8c1f-ac242acf62d3 4 88047346 88047346 A C SNP AFF1 ENST00000395146 human ensembl 74_37 1 known missense c.2669 p.K890T 0.997 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 0 no_errors 0 0 0 41 0 0 37 4 9.76 119 0 0.00 121 30 19.87 C4orf45 0 genome.wustl.edu 37 4 159956214 159956214 + Missense_Mutation SNP G G T TCGA-5U-AB0D-01A-11D-A423-09 TCGA-5U-AB0D-10A-01D-A426-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65797cd5-d594-4b25-ba60-bf64c52bffbe bd0b90dc-78fd-4951-8c1f-ac242acf62d3 4 159956214 159956214 G T SNP C4orf45 ENST00000434826 human ensembl 74_37 -1 known missense c.35 p.T12N 0.002 NULL NULL 0 no_errors 0 0 0 38 0 0 53 36 40.45 245 0 0.00 229 139 37.67 SLC45A2 0 genome.wustl.edu 37 5 33982460 33982460 + Missense_Mutation SNP C C T TCGA-5U-AB0D-01A-11D-A423-09 TCGA-5U-AB0D-10A-01D-A426-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65797cd5-d594-4b25-ba60-bf64c52bffbe bd0b90dc-78fd-4951-8c1f-ac242acf62d3 5 33982460 33982460 C T SNP SLC45A2 ENST00000296589 human ensembl 74_37 -1 known missense c.443 p.G148D 1 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt 0 no_errors 0 0 0 16 0 0 22 7 24.14 224 0 0.00 305 49 13.80 RIOK2 0 genome.wustl.edu 37 5 96503452 96503452 + Missense_Mutation SNP G G T TCGA-5U-AB0D-01A-11D-A423-09 TCGA-5U-AB0D-10A-01D-A426-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65797cd5-d594-4b25-ba60-bf64c52bffbe bd0b90dc-78fd-4951-8c1f-ac242acf62d3 5 96503452 96503452 G T SNP RIOK2 ENST00000283109 human ensembl 74_37 -1 known missense c.1116 p.D372E 0 NULL pfam_RIO-like_kinase,pfam_RIO2_kinase_winged_hlx_N,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_RIO_kinase 0 no_errors 0 0 0 39 0 0 32 20 38.46 153 0 0.00 139 84 37.67 PCDHA10 0 genome.wustl.edu 37 5 140237615 140237615 + Missense_Mutation SNP C C T TCGA-5U-AB0D-01A-11D-A423-09 TCGA-5U-AB0D-10A-01D-A426-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65797cd5-d594-4b25-ba60-bf64c52bffbe bd0b90dc-78fd-4951-8c1f-ac242acf62d3 5 140237615 140237615 C T SNP PCDHA10 ENST00000307360 human ensembl 74_37 1 known missense c.1982 p.T661M 0.993 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin 0 no_errors rs534379807 C->T 0.9998,0.0001997 50 0 0 32 24 42.86 39 0 0.00 38 25 39.06 PCDHGA5 0 genome.wustl.edu 37 5 140744606 140744606 + Missense_Mutation SNP G G A TCGA-5U-AB0D-01A-11D-A423-09 TCGA-5U-AB0D-10A-01D-A426-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65797cd5-d594-4b25-ba60-bf64c52bffbe bd0b90dc-78fd-4951-8c1f-ac242acf62d3 5 140744606 140744606 G A SNP PCDHGA5 ENST00000518069 human ensembl 74_37 1 known missense c.709 p.D237N 1 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin 0 no_errors 0 0 0 15 0 0 25 20 44.44 147 0 0.00 149 82 35.50 SLC17A4 0 genome.wustl.edu 37 6 25776847 25776847 + Missense_Mutation SNP T T C TCGA-5U-AB0D-01A-11D-A423-09 TCGA-5U-AB0D-10A-01D-A426-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65797cd5-d594-4b25-ba60-bf64c52bffbe bd0b90dc-78fd-4951-8c1f-ac242acf62d3 6 25776847 25776847 T C SNP SLC17A4 ENST00000377905 human ensembl 74_37 1 known missense c.1012 p.F338L 0 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom 0 no_errors 0 0 0 45 0 0 7 13 65 192 0 0.00 52 84 61.31 GPR126 0 genome.wustl.edu 37 6 142740971 142740971 + Missense_Mutation SNP G G A TCGA-5U-AB0D-01A-11D-A423-09 TCGA-5U-AB0D-10A-01D-A426-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65797cd5-d594-4b25-ba60-bf64c52bffbe bd0b90dc-78fd-4951-8c1f-ac242acf62d3 6 142740971 142740971 G A SNP GPR126 ENST00000367609 human ensembl 74_37 1 known missense c.3049 p.D1017N 0.959 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfam_CUB_dom,pfam_GPS_dom,pfam_Pentaxin,superfamily_CUB_dom,superfamily_ConA-like_lec_gl_sf,smart_CUB_dom,smart_Pentaxin,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like 0 no_errors 0 0 0 61 0 0 29 17 36.96 138 0 0.00 80 32 28.57 ZNF479 0 genome.wustl.edu 37 7 57194325 57194325 + Missense_Mutation SNP T T A TCGA-5U-AB0D-01A-11D-A423-09 TCGA-5U-AB0D-10A-01D-A426-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65797cd5-d594-4b25-ba60-bf64c52bffbe bd0b90dc-78fd-4951-8c1f-ac242acf62d3 7 57194325 57194325 T A SNP ZNF479 ENST00000331162 human ensembl 74_37 -1 known missense c.140 p.E47V 0.996 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box 0 no_errors 0 0 0 74 0 0 155 91 36.99 18 0 0.00 15 8 34.78 ZNF716 0 genome.wustl.edu 37 7 57528596 57528596 + Silent SNP T T C TCGA-5U-AB0D-01A-11D-A423-09 TCGA-5U-AB0D-10A-01D-A426-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65797cd5-d594-4b25-ba60-bf64c52bffbe bd0b90dc-78fd-4951-8c1f-ac242acf62d3 7 57528596 57528596 T C SNP ZNF716 ENST00000420713 human ensembl 74_37 1 known silent c.429 p.N143 0 NULL 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 0 no_errors 0 0 0 51 0 0 128 37 22.42 147 0 0.00 147 46 23.71 ZNF727 0 genome.wustl.edu 37 7 63538653 63538653 + Missense_Mutation SNP C C T TCGA-5U-AB0D-01A-11D-A423-09 TCGA-5U-AB0D-10A-01D-A426-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65797cd5-d594-4b25-ba60-bf64c52bffbe bd0b90dc-78fd-4951-8c1f-ac242acf62d3 7 63538653 63538653 C T SNP ZNF727 ENST00000550760 human ensembl 74_37 1 known missense c.1226 p.S409L 0.001 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 0 no_errors 0 0 0 27 0 0 66 21 24.14 42 0 0.00 74 10 11.90 PRUNE2 0 genome.wustl.edu 37 9 79325399 79325399 + Silent SNP G G A TCGA-5U-AB0D-01A-11D-A423-09 TCGA-5U-AB0D-10A-01D-A426-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65797cd5-d594-4b25-ba60-bf64c52bffbe bd0b90dc-78fd-4951-8c1f-ac242acf62d3 9 79325399 79325399 G A SNP PRUNE2 ENST00000428286 human ensembl 74_37 -1 known silent c.714 p.S238 0.001 NULL pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom 0 no_errors 0 0 0 56 0 0 40 19 32.2 216 1 0.46 225 131 36.69 ENSG00000214888 0 genome.wustl.edu 37 9 90474230 90474230 + RNA SNP C C T TCGA-5U-AB0D-01A-11D-A423-09 TCGA-5U-AB0D-10A-01D-A426-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65797cd5-d594-4b25-ba60-bf64c52bffbe bd0b90dc-78fd-4951-8c1f-ac242acf62d3 9 90474230 90474230 C T SNP ENSG00000214888 ENST00000399186 human ensembl 74_37 -1 known rna NULL NULL 0.003 0 0 0 no_errors 0 0 0 49 0 0 48 31 39.24 164 1 0.61 109 77 40.96 ZNF189 0 genome.wustl.edu 37 9 104170453 104170453 + Missense_Mutation SNP A A G TCGA-5U-AB0D-01A-11D-A423-09 TCGA-5U-AB0D-10A-01D-A426-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65797cd5-d594-4b25-ba60-bf64c52bffbe bd0b90dc-78fd-4951-8c1f-ac242acf62d3 9 104170453 104170453 A G SNP ZNF189 ENST00000339664 human ensembl 74_37 1 known missense c.403 p.N135D 0.92 NULL 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 0 no_errors 0 0 0 31 0 0 56 53 48.62 179 0 0.00 209 141 40.29 TMEM38B 0 genome.wustl.edu 37 9 108483845 108483845 + Missense_Mutation SNP C C A TCGA-5U-AB0D-01A-11D-A423-09 TCGA-5U-AB0D-10A-01D-A426-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65797cd5-d594-4b25-ba60-bf64c52bffbe bd0b90dc-78fd-4951-8c1f-ac242acf62d3 9 108483845 108483845 C A SNP TMEM38B ENST00000374692 human ensembl 74_37 1 known missense c.297 p.D99E 1 pfam_TRIC_channel pfam_TRIC_channel 0 no_errors 0 0 0 60 0 0 60 21 25.93 187 1 0.53 248 50 16.78 BSPRY 0 genome.wustl.edu 37 9 116122940 116122940 + Missense_Mutation SNP G G A TCGA-5U-AB0D-01A-11D-A423-09 TCGA-5U-AB0D-10A-01D-A426-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65797cd5-d594-4b25-ba60-bf64c52bffbe bd0b90dc-78fd-4951-8c1f-ac242acf62d3 9 116122940 116122940 G A SNP BSPRY ENST00000374183 human ensembl 74_37 1 known missense c.454 p.E152K 0.994 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin 0 no_errors rs570967595 G->A 0.9998,0.0001997 18 0 0 11 4 26.67 78 0 0.00 78 21 21.21 PTGES 0 genome.wustl.edu 37 9 132502127 132502127 + Silent SNP G G A TCGA-5U-AB0D-01A-11D-A423-09 TCGA-5U-AB0D-10A-01D-A426-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65797cd5-d594-4b25-ba60-bf64c52bffbe bd0b90dc-78fd-4951-8c1f-ac242acf62d3 9 132502127 132502127 G A SNP PTGES ENST00000340607 human ensembl 74_37 -1 known silent c.222 p.N74 0.977 pfam_Membr-assoc_MAPEG pfam_Membr-assoc_MAPEG 0 no_errors rs200924207 G->A 0 81 0 0 67 14 17.28 210 0 0.00 178 36 16.82 TAF3 0 genome.wustl.edu 37 10 8019222 8019222 + Missense_Mutation SNP G G A TCGA-5U-AB0D-01A-11D-A423-09 TCGA-5U-AB0D-10A-01D-A426-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65797cd5-d594-4b25-ba60-bf64c52bffbe bd0b90dc-78fd-4951-8c1f-ac242acf62d3 10 8019222 8019222 G A SNP TAF3 ENST00000344293 human ensembl 74_37 1 known missense c.2251 p.A751T 0.953 NULL pfam_BTP,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_Histone-fold,smart_BTP,smart_Znf_PHD,pfscan_Znf_PHD-finger 0 no_errors 0 0 0 60 0 0 28 29 50.88 225 0 0.00 124 114 47.90 SEC31B 0 genome.wustl.edu 37 10 102247373 102247373 + Silent SNP T T C TCGA-5U-AB0D-01A-11D-A423-09 TCGA-5U-AB0D-10A-01D-A426-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65797cd5-d594-4b25-ba60-bf64c52bffbe bd0b90dc-78fd-4951-8c1f-ac242acf62d3 10 102247373 102247373 T C SNP SEC31B ENST00000370345 human ensembl 74_37 -1 known silent c.3540 p.*1180 0.659 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom 0 no_errors 0 0 0 29 0 0 14 4 22.22 79 0 0.00 68 21 23.60 CALY 0 genome.wustl.edu 37 10 135142515 135142515 + Splice_Site SNP T T A TCGA-5U-AB0D-01A-11D-A423-09 TCGA-5U-AB0D-10A-01D-A426-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65797cd5-d594-4b25-ba60-bf64c52bffbe bd0b90dc-78fd-4951-8c1f-ac242acf62d3 10 135142515 135142515 T A SNP CALY ENST00000252939 human ensembl 74_37 -1 known splice_site c.1-2 e1-2 0.029 0 0 0 no_errors 0 0 0 32 0 0 13 10 43.48 51 0 0.00 36 21 36.84 TRIM6-TRIM34 0 genome.wustl.edu 37 11 5624749 5624749 + Silent SNP G G A TCGA-5U-AB0D-01A-11D-A423-09 TCGA-5U-AB0D-10A-01D-A426-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65797cd5-d594-4b25-ba60-bf64c52bffbe bd0b90dc-78fd-4951-8c1f-ac242acf62d3 11 5624749 5624749 G A SNP TRIM6-TRIM34 ENST00000354852 human ensembl 74_37 1 known silent c.291 p.R97 0.314 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_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin 0 no_errors 0 0 0 9 0 0 14 15 51.72 66 0 0.00 37 32 46.38 TSPAN18 0 genome.wustl.edu 37 11 44931421 44931421 + Missense_Mutation SNP G G A TCGA-5U-AB0D-01A-11D-A423-09 TCGA-5U-AB0D-10A-01D-A426-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65797cd5-d594-4b25-ba60-bf64c52bffbe bd0b90dc-78fd-4951-8c1f-ac242acf62d3 11 44931421 44931421 G A SNP TSPAN18 ENST00000340160 human ensembl 74_37 1 known missense c.229 p.V77I 1 pfam_Tetraspanin/Peripherin,prints_Tetraspanin pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin 0 no_errors 0 0 0 71 0 0 27 28 50.91 101 0 0.00 41 47 52.81 ACP2 0 genome.wustl.edu 37 11 47266389 47266389 + Nonsense_Mutation SNP C C T TCGA-5U-AB0D-01A-11D-A423-09 TCGA-5U-AB0D-10A-01D-A426-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65797cd5-d594-4b25-ba60-bf64c52bffbe bd0b90dc-78fd-4951-8c1f-ac242acf62d3 11 47266389 47266389 C T SNP ACP2 ENST00000256997 human ensembl 74_37 -1 known nonsense c.669 p.W223* 1 pfam_His_Pase_superF_clade-2 pfam_His_Pase_superF_clade-2 0 no_errors 0 0 0 75 0 0 40 15 27.27 73 0 0.00 27 14 34.15 PC 0 genome.wustl.edu 37 11 66620063 66620063 + Missense_Mutation SNP G G A TCGA-5U-AB0D-01A-11D-A423-09 TCGA-5U-AB0D-10A-01D-A426-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65797cd5-d594-4b25-ba60-bf64c52bffbe bd0b90dc-78fd-4951-8c1f-ac242acf62d3 11 66620063 66620063 G A SNP PC ENST00000393958 human ensembl 74_37 -1 known missense c.1672 p.R558W 1 pirsf_Pyruv_COase,tigrfam_Pyruv_COase pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_Carboxylase_cons_dom,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_PYR_CT,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pirsf_Pyruv_COase,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_PYR_CT,pfscan_Biotin_lipoyl,tigrfam_Pyruv_COase 0 no_errors 0 0 0 38 0 0 13 5 27.78 147 1 0.68 106 62 36.90 SYTL2 0 genome.wustl.edu 37 11 85418542 85418542 + Missense_Mutation SNP C C T TCGA-5U-AB0D-01A-11D-A423-09 TCGA-5U-AB0D-10A-01D-A426-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65797cd5-d594-4b25-ba60-bf64c52bffbe bd0b90dc-78fd-4951-8c1f-ac242acf62d3 11 85418542 85418542 C T SNP SYTL2 ENST00000359152 human ensembl 74_37 -1 known missense c.4571 p.G1524D 1 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom 0 no_errors 0 0 0 70 0 0 79 45 36.29 210 0 0.00 259 146 36.05 LRCOL1 0 genome.wustl.edu 37 12 133181337 133181337 + RNA SNP G G C TCGA-5U-AB0D-01A-11D-A423-09 TCGA-5U-AB0D-10A-01D-A426-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65797cd5-d594-4b25-ba60-bf64c52bffbe bd0b90dc-78fd-4951-8c1f-ac242acf62d3 12 133181337 133181337 G C SNP LRCOL1 ENST00000376608 human ensembl 74_37 -1 known rna NULL NULL 0.885 0 0 0 no_errors 0 0 0 36 0 0 14 12 46.15 72 0 0.00 42 39 48.15 UBR1 0 genome.wustl.edu 37 15 43281144 43281144 + Silent SNP G G T TCGA-5U-AB0D-01A-11D-A423-09 TCGA-5U-AB0D-10A-01D-A426-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65797cd5-d594-4b25-ba60-bf64c52bffbe bd0b90dc-78fd-4951-8c1f-ac242acf62d3 15 43281144 43281144 G T SNP UBR1 ENST00000290650 human ensembl 74_37 -1 known silent c.3870 p.I1290 0.999 NULL pfam_ClpS_core,pfam_Znf_N-recognin,superfamily_Ribosomal_L7/12_C/ClpS-like,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin 0 no_errors 0 0 0 29 0 0 79 18 18.56 237 0 0.00 191 57 22.98 POLR3K 0 genome.wustl.edu 37 16 97504 97504 + Missense_Mutation SNP G G A TCGA-5U-AB0D-01A-11D-A423-09 TCGA-5U-AB0D-10A-01D-A426-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65797cd5-d594-4b25-ba60-bf64c52bffbe bd0b90dc-78fd-4951-8c1f-ac242acf62d3 16 97504 97504 G A SNP POLR3K ENST00000293860 human ensembl 74_37 -1 known missense c.253 p.R85C 1 pfam_Znf_TFIIS,smart_Znf_TFIIS,pfscan_Znf_TFIIS pfam_Znf_TFIIS,pfam_DNA-dir_RNA_pol_M/15kDasu,smart_DNA-dir_RNA_pol_M/15kDasu,smart_Znf_TFIIS,pfscan_Znf_TFIIS 0 no_errors 0 0 0 36 0 0 40 12 23.08 130 0 0.00 94 79 45.66 ITGAL 0 genome.wustl.edu 37 16 30531237 30531237 + Missense_Mutation SNP C C A TCGA-5U-AB0D-01A-11D-A423-09 TCGA-5U-AB0D-10A-01D-A426-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65797cd5-d594-4b25-ba60-bf64c52bffbe bd0b90dc-78fd-4951-8c1f-ac242acf62d3 16 30531237 30531237 C A SNP ITGAL ENST00000356798 human ensembl 74_37 1 known missense c.3288 p.S1096R 0.009 NULL pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,prints_Integrin_alpha,pfscan_VWF_A 0 no_errors 0 0 0 16 0 0 12 14 53.85 55 0 0.00 31 34 52.31 NF1 0 genome.wustl.edu 37 17 29685589 29685589 + Missense_Mutation SNP G G A TCGA-5U-AB0D-01A-11D-A423-09 TCGA-5U-AB0D-10A-01D-A426-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65797cd5-d594-4b25-ba60-bf64c52bffbe bd0b90dc-78fd-4951-8c1f-ac242acf62d3 17 29685589 29685589 G A SNP NF1 ENST00000358273 human ensembl 74_37 1 known missense c.8062 p.V2688M 1 NULL pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP 0 no_errors 0 0 0 46 0 0 41 54 56.84 242 0 0.00 222 321 59.12 ASIC2 0 genome.wustl.edu 37 17 31618944 31618944 + Missense_Mutation SNP C C T TCGA-5U-AB0D-01A-11D-A423-09 TCGA-5U-AB0D-10A-01D-A426-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65797cd5-d594-4b25-ba60-bf64c52bffbe bd0b90dc-78fd-4951-8c1f-ac242acf62d3 17 31618944 31618944 C T SNP ASIC2 ENST00000225823 human ensembl 74_37 -1 known missense c.190 p.A64T 1 pfam_Na+channel_ASC pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC 0 no_errors 0 0 0 50 0 0 37 17 30.91 14 0 0.00 6 2 25.00 FZD2 0 genome.wustl.edu 37 17 42636535 42636535 + Silent SNP G G A TCGA-5U-AB0D-01A-11D-A423-09 TCGA-5U-AB0D-10A-01D-A426-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65797cd5-d594-4b25-ba60-bf64c52bffbe bd0b90dc-78fd-4951-8c1f-ac242acf62d3 17 42636535 42636535 G A SNP FZD2 ENST00000315323 human ensembl 74_37 1 known silent c.1479 p.S493 0.922 pfam_Frizzled,pfscan_GPCR_2-like pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled 0 no_errors 0 0 0 28 0 0 17 7 29.17 25 0 0.00 12 2 14.29 KIAA0195 0 genome.wustl.edu 37 17 73485730 73485730 + Missense_Mutation SNP T T C TCGA-5U-AB0D-01A-11D-A423-09 TCGA-5U-AB0D-10A-01D-A426-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65797cd5-d594-4b25-ba60-bf64c52bffbe bd0b90dc-78fd-4951-8c1f-ac242acf62d3 17 73485730 73485730 T C SNP KIAA0195 ENST00000314256 human ensembl 74_37 1 known missense c.941 p.L314P 0.811 NULL pfam_ATPase_P-typ_cation-transptr_C 0 no_errors 0 0 0 43 0 0 30 9 23.08 121 0 0.00 56 34 37.78 ANKRD30B 0 genome.wustl.edu 37 18 14791487 14791487 + Missense_Mutation SNP G G A TCGA-5U-AB0D-01A-11D-A423-09 TCGA-5U-AB0D-10A-01D-A426-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65797cd5-d594-4b25-ba60-bf64c52bffbe bd0b90dc-78fd-4951-8c1f-ac242acf62d3 18 14791487 14791487 G A SNP ANKRD30B ENST00000358984 human ensembl 74_37 1 known missense c.1822 p.E608K 0.558 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom 0 no_errors 0 0 0 40 0 0 60 44 42.31 105 1 0.94 96 80 45.20 KIAA1328 0 genome.wustl.edu 37 18 34647336 34647336 + Missense_Mutation SNP C C A TCGA-5U-AB0D-01A-11D-A423-09 TCGA-5U-AB0D-10A-01D-A426-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65797cd5-d594-4b25-ba60-bf64c52bffbe bd0b90dc-78fd-4951-8c1f-ac242acf62d3 18 34647336 34647336 C A SNP KIAA1328 ENST00000280020 human ensembl 74_37 1 known missense c.1060 p.P354T 0 NULL NULL 0 no_errors 0 0 0 36 0 0 32 6 15.79 150 1 0.66 123 52 29.71 FBXO15 0 genome.wustl.edu 37 18 71740898 71740898 + Missense_Mutation SNP G G A TCGA-5U-AB0D-01A-11D-A423-09 TCGA-5U-AB0D-10A-01D-A426-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65797cd5-d594-4b25-ba60-bf64c52bffbe bd0b90dc-78fd-4951-8c1f-ac242acf62d3 18 71740898 71740898 G A SNP FBXO15 ENST00000419743 human ensembl 74_37 -1 known missense c.1331 p.P444L 0.996 NULL pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom 0 no_errors 0 0 0 33 0 0 27 12 30.77 177 0 0.00 149 49 24.62 ENSG00000263264 0 genome.wustl.edu 37 19 7440748 7440748 + Missense_Mutation SNP C C T TCGA-5U-AB0D-01A-11D-A423-09 TCGA-5U-AB0D-10A-01D-A426-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65797cd5-d594-4b25-ba60-bf64c52bffbe bd0b90dc-78fd-4951-8c1f-ac242acf62d3 19 7440748 7440748 C T SNP ENSG00000263264 ENST00000576789 human ensembl 74_37 1 novel missense c.418 p.P140S 0 NULL NULL 0 no_errors 0 0 0 21 0 0 10 6 37.5 156 1 0.64 98 31 24.03 B3GNT8 0 genome.wustl.edu 37 19 41931576 41931576 + Missense_Mutation SNP G G A TCGA-5U-AB0D-01A-11D-A423-09 TCGA-5U-AB0D-10A-01D-A426-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65797cd5-d594-4b25-ba60-bf64c52bffbe bd0b90dc-78fd-4951-8c1f-ac242acf62d3 19 41931576 41931576 G A SNP B3GNT8 ENST00000321702 human ensembl 74_37 -1 known missense c.1108 p.R370C 0.011 NULL pfam_Glyco_trans_31 0 no_errors 0 0 0 61 0 0 23 2 8 54 0 0.00 45 19 29.69 PLA2G4C 0 genome.wustl.edu 37 19 48593629 48593629 + Missense_Mutation SNP T T C TCGA-5U-AB0D-01A-11D-A423-09 TCGA-5U-AB0D-10A-01D-A426-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65797cd5-d594-4b25-ba60-bf64c52bffbe bd0b90dc-78fd-4951-8c1f-ac242acf62d3 19 48593629 48593629 T C SNP PLA2G4C ENST00000599111 human ensembl 74_37 -1 known missense c.785 p.Y262C 0 superfamily_Acyl_Trfase/lysoPLipase,smart_LysoPLipase_cat_dom,pfscan_LysoPLipase_cat_dom pfam_LysoPLipase_cat_dom,superfamily_Acyl_Trfase/lysoPLipase,smart_LysoPLipase_cat_dom,pfscan_LysoPLipase_cat_dom 0 no_errors 0 0 0 83 0 0 107 29 21.32 221 0 0.00 170 45 20.93 KCNA7 0 genome.wustl.edu 37 19 49573389 49573389 + Silent SNP G G A TCGA-5U-AB0D-01A-11D-A423-09 TCGA-5U-AB0D-10A-01D-A426-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65797cd5-d594-4b25-ba60-bf64c52bffbe bd0b90dc-78fd-4951-8c1f-ac242acf62d3 19 49573389 49573389 G A SNP KCNA7 ENST00000221444 human ensembl 74_37 -1 known silent c.1302 p.D434 0.041 NULL 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_Kv,prints_K_chnl_volt-dep_Kv1 0 no_errors rs145070146 G->A 0 74 0 0 43 10 18.87 214 0 0.00 109 28 20.29 ZNF432 0 genome.wustl.edu 37 19 52537807 52537807 + Silent SNP G G A TCGA-5U-AB0D-01A-11D-A423-09 TCGA-5U-AB0D-10A-01D-A426-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65797cd5-d594-4b25-ba60-bf64c52bffbe bd0b90dc-78fd-4951-8c1f-ac242acf62d3 19 52537807 52537807 G A SNP ZNF432 ENST00000221315 human ensembl 74_37 -1 known silent c.1125 p.C375 0.798 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 0 no_errors 0 0 0 47 0 0 32 31 49.21 136 0 0.00 89 90 50.28 RBCK1 0 genome.wustl.edu 37 20 391181 391181 + Missense_Mutation SNP C C T TCGA-5U-AB0D-01A-11D-A423-09 TCGA-5U-AB0D-10A-01D-A426-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65797cd5-d594-4b25-ba60-bf64c52bffbe bd0b90dc-78fd-4951-8c1f-ac242acf62d3 20 391181 391181 C T SNP RBCK1 ENST00000475269 human ensembl 74_37 1 putative missense c.293 p.P98L 0 NULL NULL 0 no_errors 0 0 0 38 0 0 55 8 12.7 262 0 0.00 380 69 15.33 CDC25B 0 genome.wustl.edu 37 20 3783595 3783595 + Silent SNP C C T TCGA-5U-AB0D-01A-11D-A423-09 TCGA-5U-AB0D-10A-01D-A426-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65797cd5-d594-4b25-ba60-bf64c52bffbe bd0b90dc-78fd-4951-8c1f-ac242acf62d3 20 3783595 3783595 C T SNP CDC25B ENST00000245960 human ensembl 74_37 1 known silent c.1233 p.D411 1 superfamily_Rhodanese-like_dom,prints_MPI_Phosphatase pfam_MPI_Phosphatase,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom,prints_MPI_Phosphatase 0 no_errors 0 0 0 41 0 0 58 23 28.4 252 0 0.00 261 131 33.42 ENSG00000223579 0 genome.wustl.edu 37 22 20640787 20640787 + RNA SNP T T A TCGA-5U-AB0D-01A-11D-A423-09 TCGA-5U-AB0D-10A-01D-A426-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65797cd5-d594-4b25-ba60-bf64c52bffbe bd0b90dc-78fd-4951-8c1f-ac242acf62d3 22 20640787 20640787 T A SNP ENSG00000223579 ENST00000577456 human ensembl 74_37 -1 known rna NULL NULL 0.155 0 0 0 no_errors rs563451620 T->A 0 85 0 0 111 9 7.5 9 0 0.00 17 2 10.53 FAM230A 0 genome.wustl.edu 37 22 20708697 20708697 + Silent SNP C C T TCGA-5U-AB0D-01A-11D-A423-09 TCGA-5U-AB0D-10A-01D-A426-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65797cd5-d594-4b25-ba60-bf64c52bffbe bd0b90dc-78fd-4951-8c1f-ac242acf62d3 22 20708697 20708697 C T SNP FAM230A ENST00000434783 human ensembl 74_37 1 known silent c.429 p.D143 0.162 superfamily_Kinase-like_dom pfam_Ret-finger_pr-like_3_antisense,superfamily_Kinase-like_dom 0 no_errors rs566822381 C->T 0.9996,0.0003994 45 1 2.17 41 41 50 26 0 0.00 10 12 54.55 SOX4 0 genome.wustl.edu 37 6 21595973 21595974 + Frame_Shift_Ins INS - - CGAC TCGA-5U-AB0D-01A-11D-A423-09 TCGA-5U-AB0D-10A-01D-A426-09 - - - CGAC - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65797cd5-d594-4b25-ba60-bf64c52bffbe bd0b90dc-78fd-4951-8c1f-ac242acf62d3 6 21595973 21595974 0 CGAC INS SOX4 ENST00000244745 human ensembl 74_37 1 known frame_shift_ins c.1208_1209 p.L405fs 1.000:1.000 pirsf_SOX-12/11/4a pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pirsf_SOX-12/11/4a,pfscan_HMG_box_dom 0 no_errors 0 0 0 70 0 0 6 19 76 90 0 0.00 29 35 54.69 PHF10 0 genome.wustl.edu 37 6 170121100 170121100 + Splice_Site DEL C C - TCGA-5U-AB0D-01A-11D-A423-09 TCGA-5U-AB0D-10A-01D-A426-09 C C C - C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65797cd5-d594-4b25-ba60-bf64c52bffbe bd0b90dc-78fd-4951-8c1f-ac242acf62d3 6 170121100 170121100 C 0 DEL PHF10 ENST00000339209 human ensembl 74_37 -1 known splice_site_del c.194+1 e2+1 1 0 0 0 no_errors 0 0 0 36 0 0 17 27 61.36 213 0 0.00 82 164 66.67 SCRN2 0 genome.wustl.edu 37 17 45918216 45918234 + In_Frame_Del DEL AGAGGCGGGCCTCTCCATA AGAGGCGGGCCTCTCCATA - TCGA-5U-AB0D-01A-11D-A423-09 TCGA-5U-AB0D-10A-01D-A426-09 AGAGGCGGGCCTCTCCATA AGAGGCGGGCCTCTCCATA AGAGGCGGGCCTCTCCATA - AGAGGCGGGCCTCTCCATA AGAGGCGGGCCTCTCCATA Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65797cd5-d594-4b25-ba60-bf64c52bffbe bd0b90dc-78fd-4951-8c1f-ac242acf62d3 17 45918216 45918234 AGAGGCGGGCCTCTCCATA 0 DEL SCRN2 ENST00000584123 human ensembl 74_37 -1 putative in_frame_del c.18_1 p.MERPAS1in_frame_del 0.103:0.105:0.107:0.060:0.011:0.000:0.001:0.012:0.000:0.271:0.299:0.217:0.147:0.050:0.002:0.004:0.001:0.001 NULL pfam_Peptidase_C69,pfam_Pept_C45_AAT 0 no_errors 0 0 0 79 0 0 45 11 19.64 78 0 0.00 51 6 10.53 GLTSCR1 0 genome.wustl.edu 37 19 48197890 48197891 + Frame_Shift_Ins INS - - C TCGA-5U-AB0D-01A-11D-A423-09 TCGA-5U-AB0D-10A-01D-A426-09 - - - C - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 65797cd5-d594-4b25-ba60-bf64c52bffbe bd0b90dc-78fd-4951-8c1f-ac242acf62d3 19 48197890 48197891 0 C INS GLTSCR1 ENST00000396720 human ensembl 74_37 1 known frame_shift_ins c.2802_2803 p.P937fs 0.044:0.226 NULL NULL 0 no_errors 0 0 0 28 0 0 18 4 18.18 95 1 1.04 82 9 9.89 DNM1P47 0 genome.wustl.edu 37 15 102303979 102303979 + RNA SNP C C G TCGA-5U-AB0D-01A-11D-A423-09 TCGA-5U-AB0D-10A-01D-A426-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65797cd5-d594-4b25-ba60-bf64c52bffbe bd0b90dc-78fd-4951-8c1f-ac242acf62d3 15 102303979 102303979 C G SNP DNM1P47 ENST00000561463 human ensembl 74_37 1 known rna NULL NULL 1 0 0 0 no_errors 0 0 0 12 0 0 10 9 47.37 1 0 0.00 0 0 0.00 RPS2 0 genome.wustl.edu 37 16 2012130 2012130 + Missense_Mutation SNP C C T TCGA-5U-AB0D-01A-11D-A423-09 TCGA-5U-AB0D-10A-01D-A426-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65797cd5-d594-4b25-ba60-bf64c52bffbe bd0b90dc-78fd-4951-8c1f-ac242acf62d3 16 2012130 2012130 C T SNP RPS2 ENST00000343262 human ensembl 74_37 -1 known missense c.851 p.R284Q 1 NULL pfam_Ribosomal_S5_N,pfam_Ribosomal_S5_C,superfamily_Ribosomal_S5_D2-typ_fold,pfscan_Ribosomal_S5_N,tigrfam_Ribosomal_S5_euk/arc 0 no_errors rs367578393 C->T 0 120 0 0 129 34 20.86 0 0 0.00 0 0 0.00 ZNF208 0 genome.wustl.edu 37 19 22154452 22154452 + Silent SNP A A G TCGA-5U-AB0D-01A-11D-A423-09 TCGA-5U-AB0D-10A-01D-A426-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65797cd5-d594-4b25-ba60-bf64c52bffbe bd0b90dc-78fd-4951-8c1f-ac242acf62d3 19 22154452 22154452 A G SNP ZNF208 ENST00000397126 human ensembl 74_37 -1 novel silent c.3384 p.L1128 0 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 0 no_errors 0 0 0 21 0 0 35 3 7.89 2 0 0.00 2 0 0.00 ZNF208 0 genome.wustl.edu 37 19 22156863 22156863 + Missense_Mutation SNP C C A TCGA-5U-AB0D-01A-11D-A423-09 TCGA-5U-AB0D-10A-01D-A426-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65797cd5-d594-4b25-ba60-bf64c52bffbe bd0b90dc-78fd-4951-8c1f-ac242acf62d3 19 22156863 22156863 C A SNP ZNF208 ENST00000397126 human ensembl 74_37 -1 novel missense c.973 p.V325F 0 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 0 no_errors rs202200782 C->A 0 22 0 0 22 10 31.25 22 0 0.00 5 0 0.00 GGT1 0 genome.wustl.edu 37 22 25023394 25023394 + Silent SNP G G A TCGA-5U-AB0D-01A-11D-A423-09 TCGA-5U-AB0D-10A-01D-A426-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65797cd5-d594-4b25-ba60-bf64c52bffbe bd0b90dc-78fd-4951-8c1f-ac242acf62d3 22 25023394 25023394 G A SNP GGT1 ENST00000425895 human ensembl 74_37 1 known silent c.1038 p.S346 0.722 NULL pfam_GGT_peptidase,prints_GGT_peptidase 0 no_errors rs200388418 G->A 0 58 1 1.69 48 9 15.79 0 0 0.00 0 0 0.00 WNT7B 0 genome.wustl.edu 37 22 46318762 46318762 + Missense_Mutation SNP G G A TCGA-5U-AB0D-01A-11D-A423-09 TCGA-5U-AB0D-10A-01D-A426-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65797cd5-d594-4b25-ba60-bf64c52bffbe bd0b90dc-78fd-4951-8c1f-ac242acf62d3 22 46318762 46318762 G A SNP WNT7B ENST00000339464 human ensembl 74_37 -1 known missense c.1024 p.R342C 1 pfam_Wnt,smart_Wnt pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt7 0 no_errors rs567863801 G->A 0.9998,0.0001997 45 0 0 43 4 8.33 29 0 0.00 10 0 0.00 UTS2R 0 genome.wustl.edu 37 17 80332689 80332689 + Frame_Shift_Del DEL G G - TCGA-5U-AB0D-01A-11D-A423-09 TCGA-5U-AB0D-10A-01D-A426-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 65797cd5-d594-4b25-ba60-bf64c52bffbe bd0b90dc-78fd-4951-8c1f-ac242acf62d3 17 80332689 80332689 G 0 DEL UTS2R ENST00000313135 human ensembl 74_37 1 known frame_shift_del c.489 p.G164fs 1 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Urot_II_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Urot_II_rcpt,prints_GPCR_Rhodpsn 0 no_errors 0 0 0 9 0 0 4 2 33.33 15 0 0.00 8 0 0.00