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 ZNF890P 0 genome.wustl.edu 37 7 5161321 5161321 + R SNP G G C TCGA-SI-A71Q-01A-12D-A33E-09 TCGA-SI-A71Q-10A-01D-A33H-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 289dd857-9301-4214-8ae5-3ae1f84be485 bbc63b41-0a71-4886-9194-ffdeae6bb13f 7 5161321 5161321 G C SNP ZNF890P ENST00000422060 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors ZNF890P HGNC ENSG00000159904 tier1 - - 92 0 0.00 152 44 22.45 69 0 0.00 84 26 23.64 ENSG00000219492 0 genome.wustl.edu 37 4 9385981 9385981 + Silent SNP A A T TCGA-SI-A71Q-01A-12D-A33E-09 TCGA-SI-A71Q-10A-01D-A33H-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 289dd857-9301-4214-8ae5-3ae1f84be485 bbc63b41-0a71-4886-9194-ffdeae6bb13f 4 9385981 9385981 A T SNP ENSG00000219492 ENST00000508324 human ensembl 74_37 -1 novel silent c.663 p.T221 0.656 smart_Znf_C2H2-like,pfscan_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 RP11-1396O13.13 Clone_based_vega_gene ENSG00000219492 tier1 - - 283 0 0.00 207 54 20.69 89 0 0.00 22 11 33.33 GALNT14 0 genome.wustl.edu 37 2 31168687 31168687 + Missense_Mutation SNP G G A TCGA-SI-A71Q-01A-12D-A33E-09 TCGA-SI-A71Q-10A-01D-A33H-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 289dd857-9301-4214-8ae5-3ae1f84be485 bbc63b41-0a71-4886-9194-ffdeae6bb13f 2 31168687 31168687 G A SNP GALNT14 ENST00000349752 human ensembl 74_37 -1 known missense c.704 p.T235I 0.998 pfam_Glyco_trans_2 pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT14 HGNC ENSG00000158089 tier1 - - 42 0 0.00 56 29 34.12 88 0 0.00 39 22 36.07 ZDBF2 0 genome.wustl.edu 37 2 207173469 207173469 + Missense_Mutation SNP G G T TCGA-SI-A71Q-01A-12D-A33E-09 TCGA-SI-A71Q-10A-01D-A33H-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 289dd857-9301-4214-8ae5-3ae1f84be485 bbc63b41-0a71-4886-9194-ffdeae6bb13f 2 207173469 207173469 G T SNP ZDBF2 ENST00000374423 human ensembl 74_37 +1 known missense c.4217 p.G1406V 0.975 NULL pfam_Znf_DBF,smart_Znf_DBF - no_errors ZDBF2 HGNC ENSG00000204186 tier1 - - 39 0 0.00 115 39 25.16 120 0 0.00 87 36 29.27 DGKI 0 genome.wustl.edu 37 7 137080395 137080395 + Silent SNP C C A TCGA-SI-A71Q-01A-12D-A33E-09 TCGA-SI-A71Q-10A-01D-A33H-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 289dd857-9301-4214-8ae5-3ae1f84be485 bbc63b41-0a71-4886-9194-ffdeae6bb13f 7 137080395 137080395 C A SNP DGKI ENST00000288490 human ensembl 74_37 -1 known silent c.3030 p.V1010 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors DGKI HGNC ENSG00000157680 tier1 - - 60 0 0.00 73 29 28.43 34 0 0.00 24 22 47.83 NRK 0 genome.wustl.edu 37 X 105153297 105153297 + Missense_Mutation SNP C C T TCGA-SI-A71Q-01A-12D-A33E-09 TCGA-SI-A71Q-10A-01D-A33H-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 289dd857-9301-4214-8ae5-3ae1f84be485 bbc63b41-0a71-4886-9194-ffdeae6bb13f X 105153297 105153297 C T SNP NRK ENST00000428173 human ensembl 74_37 +1 known missense c.1667 p.A556V 0.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Citron,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom - no_errors NRK HGNC ENSG00000123572 tier1 - - 19 0 0.00 26 26 50.00 39 0 0.00 28 31 52.54 CASC3 0 genome.wustl.edu 37 17 38324174 38324174 + Nonsense_Mutation SNP C C T TCGA-SI-A71Q-01A-12D-A33E-09 TCGA-SI-A71Q-10A-01D-A33H-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 289dd857-9301-4214-8ae5-3ae1f84be485 bbc63b41-0a71-4886-9194-ffdeae6bb13f 17 38324174 38324174 C T SNP CASC3 ENST00000264645 human ensembl 74_37 +1 known nonsense c.1723 p.Q575* 1.000 NULL pfam_Btz_dom - no_errors CASC3 HGNC ENSG00000108349 tier1 - - 79 0 0.00 49 62 55.86 59 0 0.00 41 23 35.94 SIK3 0 genome.wustl.edu 37 11 116729350 116729350 + Missense_Mutation SNP G G A TCGA-SI-A71Q-01A-12D-A33E-09 TCGA-SI-A71Q-10A-01D-A33H-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 289dd857-9301-4214-8ae5-3ae1f84be485 bbc63b41-0a71-4886-9194-ffdeae6bb13f 11 116729350 116729350 G A SNP SIK3 ENST00000375300 human ensembl 74_37 -1 known missense c.2687 p.S896L 1.000 NULL 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_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom - no_errors SIK3 HGNC ENSG00000160584 tier1 - - 54 0 0.00 20 14 41.18 107 0 0.00 35 7 16.67 ARID1A 0 genome.wustl.edu 37 1 27106528 27106528 + Missense_Mutation SNP G G A TCGA-SI-A71Q-01A-12D-A33E-09 TCGA-SI-A71Q-10A-01D-A33H-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 289dd857-9301-4214-8ae5-3ae1f84be485 bbc63b41-0a71-4886-9194-ffdeae6bb13f 1 27106528 27106528 G A SNP ARID1A ENST00000324856 human ensembl 74_37 +1 known missense c.6139 p.E2047K 1.000 pfam_DUF3518 pfam_DUF3518,pfam_ARID/BRIGHT_D-bd,superfamily_ARID/BRIGHT_D-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_D-bd,pfscan_ARID/BRIGHT_D-bd - no_errors ARID1A HGNC ENSG00000117713 tier1 - - 53 0 0.00 31 20 39.22 137 0 0.00 49 34 40.96 NIN 0 genome.wustl.edu 37 14 51243731 51243731 + Missense_Mutation SNP T T A TCGA-SI-A71Q-01A-12D-A33E-09 TCGA-SI-A71Q-10A-01D-A33H-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 289dd857-9301-4214-8ae5-3ae1f84be485 bbc63b41-0a71-4886-9194-ffdeae6bb13f 14 51243731 51243731 T A SNP NIN ENST00000245441 human ensembl 74_37 -1 known missense c.602 p.H201L 1.000 NULL superfamily_tR-bd_arm,pfscan_EF_hand_dom - no_errors NIN HGNC ENSG00000100503 tier1 - - 25 0 0.00 54 30 35.71 119 0 0.00 105 26 19.85 OR11A1 0 genome.wustl.edu 37 6 29395185 29395185 + Silent SNP T T A TCGA-SI-A71Q-01A-12D-A33E-09 TCGA-SI-A71Q-10A-01D-A33H-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 289dd857-9301-4214-8ae5-3ae1f84be485 bbc63b41-0a71-4886-9194-ffdeae6bb13f 6 29395185 29395185 T A SNP OR11A1 ENST00000377147 human ensembl 74_37 -1 known silent c.234 p.A78 0.044 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors OR11A1 HGNC ENSG00000204694 tier1 - - 31 0 0.00 28 19 40.43 70 0 0.00 19 22 53.66 DPPA5 0 genome.wustl.edu 37 6 74063926 74063926 + Missense_Mutation SNP C C G TCGA-SI-A71Q-01A-12D-A33E-09 TCGA-SI-A71Q-10A-01D-A33H-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 289dd857-9301-4214-8ae5-3ae1f84be485 bbc63b41-0a71-4886-9194-ffdeae6bb13f 6 74063926 74063926 C G SNP DPPA5 ENST00000370370 human ensembl 74_37 -1 known missense c.23 p.R8T 0.000 NULL NULL - no_errors DPPA5 HGNC ENSG00000203909 tier1 - - 86 0 0.00 59 43 42.16 66 0 0.00 57 33 36.67 PGAP1 0 genome.wustl.edu 37 2 197707533 197707533 + Missense_Mutation SNP T T G TCGA-SI-A71Q-01A-12D-A33E-09 TCGA-SI-A71Q-10A-01D-A33H-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 289dd857-9301-4214-8ae5-3ae1f84be485 bbc63b41-0a71-4886-9194-ffdeae6bb13f 2 197707533 197707533 T G SNP PGAP1 ENST00000354764 human ensembl 74_37 -1 known missense c.2542 p.N848H 0.968 NULL pfam_PGAP1-like - no_errors PGAP1 HGNC ENSG00000197121 tier1 - - 41 0 0.00 105 39 27.08 116 0 0.00 106 35 24.82 ADAMTS19 0 genome.wustl.edu 37 5 129072798 129072798 + Missense_Mutation SNP G G T TCGA-SI-A71Q-01A-12D-A33E-09 TCGA-SI-A71Q-10A-01D-A33H-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 289dd857-9301-4214-8ae5-3ae1f84be485 bbc63b41-0a71-4886-9194-ffdeae6bb13f 5 129072798 129072798 G T SNP ADAMTS19 ENST00000274487 human ensembl 74_37 +1 known missense c.3511 p.V1171L 0.999 pfam_PLAC,pfscan_PLAC pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_PLAC,pfam_Pept_M10_metallopeptidase,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS19 HGNC ENSG00000145808 tier1 - - 21 0 0.00 6 22 78.57 90 0 0.00 33 27 45.00 GPR112 0 genome.wustl.edu 37 X 135487944 135487944 + Silent SNP T T C TCGA-SI-A71Q-01A-12D-A33E-09 TCGA-SI-A71Q-10A-01D-A33H-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 289dd857-9301-4214-8ae5-3ae1f84be485 bbc63b41-0a71-4886-9194-ffdeae6bb13f X 135487944 135487944 T C SNP GPR112 ENST00000370652 human ensembl 74_37 +1 known silent c.8748 p.V2916 0.998 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR112 HGNC ENSG00000156920 tier1 - - 49 0 0.00 65 25 27.78 67 0 0.00 73 21 22.11 ARRDC5 0 genome.wustl.edu 37 19 4891142 4891142 + Silent SNP G G T TCGA-SI-A71Q-01A-12D-A33E-09 TCGA-SI-A71Q-10A-01D-A33H-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 289dd857-9301-4214-8ae5-3ae1f84be485 bbc63b41-0a71-4886-9194-ffdeae6bb13f 19 4891142 4891142 G T SNP ARRDC5 ENST00000381781 human ensembl 74_37 -1 known silent c.945 p.I315 0.019 pfam_Arrestin_C-like,superfamily_Ig_E-set pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set - no_errors ARRDC5 HGNC ENSG00000205784 tier1 - - 47 0 0.00 72 27 27.27 87 1 1.14 96 33 25.58 KLF8 0 genome.wustl.edu 37 X 56292123 56292123 + Missense_Mutation SNP C C A TCGA-SI-A71Q-01A-12D-A33E-09 TCGA-SI-A71Q-10A-01D-A33H-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 289dd857-9301-4214-8ae5-3ae1f84be485 bbc63b41-0a71-4886-9194-ffdeae6bb13f X 56292123 56292123 C A SNP KLF8 ENST00000468660 human ensembl 74_37 +1 known missense c.592 p.P198T 0.992 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF8 HGNC ENSG00000102349 tier1 - - 17 0 0.00 47 20 29.85 12 0 0.00 28 4 12.50 FGFR1 0 genome.wustl.edu 37 8 38274849 38274849 + Missense_Mutation SNP G G T TCGA-SI-A71Q-01A-12D-A33E-09 TCGA-SI-A71Q-10A-01D-A33H-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 289dd857-9301-4214-8ae5-3ae1f84be485 bbc63b41-0a71-4886-9194-ffdeae6bb13f 8 38274849 38274849 G T SNP FGFR1 ENST00000425967 human ensembl 74_37 -1 known missense c.1731 p.N577K 1.000 pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom 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 FGFR1 HGNC ENSG00000077782 tier1 - - 26 0 0.00 38 11 22.45 34 0 0.00 23 18 43.90 CCDC155 0 genome.wustl.edu 37 19 49910870 49910870 + Missense_Mutation SNP G G A TCGA-SI-A71Q-01A-12D-A33E-09 TCGA-SI-A71Q-10A-01D-A33H-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 289dd857-9301-4214-8ae5-3ae1f84be485 bbc63b41-0a71-4886-9194-ffdeae6bb13f 19 49910870 49910870 G A SNP CCDC155 ENST00000447857 human ensembl 74_37 +1 known missense c.935 p.R312H 0.998 NULL NULL - no_errors CCDC155 HGNC ENSG00000161609 tier1 - - 112 0 0.00 118 56 32.18 79 0 0.00 35 13 26.53 C2orf72 0 genome.wustl.edu 37 2 231911630 231911630 + Missense_Mutation SNP T T A TCGA-SI-A71Q-01A-12D-A33E-09 TCGA-SI-A71Q-10A-01D-A33H-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 289dd857-9301-4214-8ae5-3ae1f84be485 bbc63b41-0a71-4886-9194-ffdeae6bb13f 2 231911630 231911630 T A SNP C2orf72 ENST00000373640 human ensembl 74_37 +1 putative missense c.782 p.L261Q 0.873 NULL NULL - no_errors C2orf72 HGNC ENSG00000204128 tier1 - - 86 0 0.00 103 34 24.82 89 0 0.00 89 26 22.61 SCGB1C1 0 genome.wustl.edu 37 11 194424 194424 + Missense_Mutation SNP G G A TCGA-SI-A71Q-01A-12D-A33E-09 TCGA-SI-A71Q-10A-01D-A33H-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 289dd857-9301-4214-8ae5-3ae1f84be485 bbc63b41-0a71-4886-9194-ffdeae6bb13f 11 194424 194424 G A SNP SCGB1C1 ENST00000342878 human ensembl 74_37 +1 known missense c.262 p.V88M 1.000 pfam_Secretoglobin,superfamily_Secretoglobin pfam_Secretoglobin,superfamily_Secretoglobin - no_errors SCGB1C1 HGNC ENSG00000188076 tier1 - - 101 0 0.00 75 11 12.79 96 0 0.00 57 12 17.39 LCP1 0 genome.wustl.edu 37 13 46717443 46717443 + Silent SNP C C T TCGA-SI-A71Q-01A-12D-A33E-09 TCGA-SI-A71Q-10A-01D-A33H-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 289dd857-9301-4214-8ae5-3ae1f84be485 bbc63b41-0a71-4886-9194-ffdeae6bb13f 13 46717443 46717443 C T SNP LCP1 ENST00000323076 human ensembl 74_37 -1 known silent c.1350 p.L450 1.000 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_CH-domain,pfam_EF_hand_dom,pfam_CAMSAP_CH,superfamily_CH-domain,smart_EF_hand_dom,smart_CH-domain,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors LCP1 HGNC ENSG00000136167 tier1 - - 89 0 0.00 94 29 23.58 149 0 0.00 100 39 28.06 CD2AP 0 genome.wustl.edu 37 6 47573998 47573998 + Silent SNP C C T TCGA-SI-A71Q-01A-12D-A33E-09 TCGA-SI-A71Q-10A-01D-A33H-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 289dd857-9301-4214-8ae5-3ae1f84be485 bbc63b41-0a71-4886-9194-ffdeae6bb13f 6 47573998 47573998 C T SNP CD2AP ENST00000359314 human ensembl 74_37 +1 known silent c.1515 p.F505 1.000 NULL pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain - no_errors CD2AP HGNC ENSG00000198087 tier1 - - 48 0 0.00 92 26 22.03 122 1 0.81 94 15 13.76 TYK2 0 genome.wustl.edu 37 19 10463610 10463610 + Silent SNP G G A TCGA-SI-A71Q-01A-12D-A33E-09 TCGA-SI-A71Q-10A-01D-A33H-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 289dd857-9301-4214-8ae5-3ae1f84be485 bbc63b41-0a71-4886-9194-ffdeae6bb13f 19 10463610 10463610 G A SNP TYK2 ENST00000264818 human ensembl 74_37 -1 known silent c.3192 p.P1064 0.036 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_Prot_kinase_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_TYK2_N - no_errors TYK2 HGNC ENSG00000105397 tier1 - - 54 0 0.00 12 15 55.56 48 0 0.00 12 8 40.00 SLC38A8 0 genome.wustl.edu 37 16 84063139 84063139 + Missense_Mutation SNP G G A TCGA-SI-A71Q-01A-12D-A33E-09 TCGA-SI-A71Q-10A-01D-A33H-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 289dd857-9301-4214-8ae5-3ae1f84be485 bbc63b41-0a71-4886-9194-ffdeae6bb13f 16 84063139 84063139 G A SNP SLC38A8 ENST00000299709 human ensembl 74_37 -1 known missense c.650 p.S217F 0.998 pfam_AA_transpt_TM,pfam_Tryptophan/tyrosine_permease pfam_AA_transpt_TM,pfam_Tryptophan/tyrosine_permease - no_errors SLC38A8 HGNC ENSG00000166558 tier1 - - 105 0 0.00 45 33 42.31 130 0 0.00 96 39 28.89 MTMR8 0 genome.wustl.edu 37 X 63563503 63563503 + Missense_Mutation SNP A A C TCGA-SI-A71Q-01A-12D-A33E-09 TCGA-SI-A71Q-10A-01D-A33H-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 289dd857-9301-4214-8ae5-3ae1f84be485 bbc63b41-0a71-4886-9194-ffdeae6bb13f X 63563503 63563503 A C SNP MTMR8 ENST00000374852 human ensembl 74_37 -1 known missense c.963 p.I321M 1.000 smart_Tyr_Pase_cat pfam_Myotubularin-like_Pase_dom,smart_Tyr_Pase_cat - no_errors MTMR8 HGNC ENSG00000102043 tier1 - - 98 0 0.00 128 33 20.50 139 0 0.00 103 27 20.61 ARRDC5 0 genome.wustl.edu 37 19 4891074 4891074 + Missense_Mutation SNP G G C TCGA-SI-A71Q-01A-12D-A33E-09 TCGA-SI-A71Q-10A-01D-A33H-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 289dd857-9301-4214-8ae5-3ae1f84be485 bbc63b41-0a71-4886-9194-ffdeae6bb13f 19 4891074 4891074 G C SNP ARRDC5 ENST00000381781 human ensembl 74_37 -1 known missense c.1013 p.P338R 0.000 superfamily_Ig_E-set pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set - no_errors ARRDC5 HGNC ENSG00000205784 tier1 - - 73 0 0.00 100 62 37.80 97 0 0.00 97 33 25.38 PTPN4 0 genome.wustl.edu 37 2 120704097 120704097 + Missense_Mutation SNP G G A TCGA-SI-A71Q-01A-12D-A33E-09 TCGA-SI-A71Q-10A-01D-A33H-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 289dd857-9301-4214-8ae5-3ae1f84be485 bbc63b41-0a71-4886-9194-ffdeae6bb13f 2 120704097 120704097 G A SNP PTPN4 ENST00000263708 human ensembl 74_37 +1 known missense c.1603 p.G535R 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_Tyr_Pase_non-rcpt_typ-3/4,pfscan_PDZ pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,pfam_PDZ,pfam_FERM-adjacent,superfamily_FERM_central,superfamily_PDZ,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-3/4,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors PTPN4 HGNC ENSG00000088179 tier1 - - 53 0 0.00 76 21 21.65 82 0 0.00 73 21 22.34 HACE1 0 genome.wustl.edu 37 6 105219148 105219148 + Missense_Mutation SNP C C G TCGA-SI-A71Q-01A-12D-A33E-09 TCGA-SI-A71Q-10A-01D-A33H-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 289dd857-9301-4214-8ae5-3ae1f84be485 bbc63b41-0a71-4886-9194-ffdeae6bb13f 6 105219148 105219148 C G SNP HACE1 ENST00000262903 human ensembl 74_37 -1 known missense c.2131 p.E711Q 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_Ankyrin_rpt,superfamily_HECT,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_HECT,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_HECT,prints_Ankyrin_rpt - no_errors HACE1 HGNC ENSG00000085382 tier1 - - 56 0 0.00 100 26 20.47 151 0 0.00 112 31 21.68 MGA 0 genome.wustl.edu 37 15 41961309 41961309 + Missense_Mutation SNP G G C TCGA-SI-A71Q-01A-12D-A33E-09 TCGA-SI-A71Q-10A-01D-A33H-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 289dd857-9301-4214-8ae5-3ae1f84be485 bbc63b41-0a71-4886-9194-ffdeae6bb13f 15 41961309 41961309 G C SNP MGA ENST00000219905 human ensembl 74_37 +1 known missense c.217 p.G73R 1.000 NULL pfam_TF_T-box,pfam_bHLH_dom,superfamily_p53-like_TF_D-bd,superfamily_bHLH_dom,smart_TF_T-box,smart_bHLH_dom,pfscan_bHLH_dom,pfscan_TF_T-box,prints_TF_T-box - no_errors MGA HGNC ENSG00000174197 tier1 - - 50 0 0.00 78 30 27.78 122 0 0.00 114 25 17.99 CEACAM5 0 genome.wustl.edu 37 19 42224076 42224076 + Nonsense_Mutation SNP C C T TCGA-SI-A71Q-01A-12D-A33E-09 TCGA-SI-A71Q-10A-01D-A33H-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 289dd857-9301-4214-8ae5-3ae1f84be485 bbc63b41-0a71-4886-9194-ffdeae6bb13f 19 42224076 42224076 C T SNP CEACAM5 ENST00000221992 human ensembl 74_37 +1 known nonsense c.1720 p.Q574* 0.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors CEACAM5 HGNC ENSG00000105388 tier1 - - 107 0 0.00 136 66 32.67 59 0 0.00 32 8 20.00 ABCC2 0 genome.wustl.edu 37 10 101595898 101595898 + Silent SNP C C T TCGA-SI-A71Q-01A-12D-A33E-09 TCGA-SI-A71Q-10A-01D-A33H-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 289dd857-9301-4214-8ae5-3ae1f84be485 bbc63b41-0a71-4886-9194-ffdeae6bb13f 10 101595898 101595898 C T SNP ABCC2 ENST00000370449 human ensembl 74_37 +1 known silent c.3465 p.T1155 0.997 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc - no_errors ABCC2 HGNC ENSG00000023839 tier1 - - 55 0 0.00 32 44 57.89 67 0 0.00 18 41 69.49 BTBD10 0 genome.wustl.edu 37 11 13441262 13441262 + Frame_Shift_Del DEL G G - TCGA-SI-A71Q-01A-12D-A33E-09 TCGA-SI-A71Q-10A-01D-A33H-09 G G G - G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 289dd857-9301-4214-8ae5-3ae1f84be485 bbc63b41-0a71-4886-9194-ffdeae6bb13f 11 13441262 13441262 G - DEL BTBD10 ENST00000278174 human ensembl 74_37 -1 known frame_shift_del c.329 p.P110fs 1.000 NULL superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors BTBD10 HGNC ENSG00000148925 tier1 38 0 0.00 14 66 82.50 48 0 0.00 5 37 88.10 DLGAP3 0 genome.wustl.edu 37 1 35351792 35351792 + Missense_Mutation SNP C C T TCGA-SI-A71Q-01A-12D-A33E-09 TCGA-SI-A71Q-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289dd857-9301-4214-8ae5-3ae1f84be485 bbc63b41-0a71-4886-9194-ffdeae6bb13f 1 35351792 35351792 C T SNP DLGAP3 ENST00000235180 human ensembl 74_37 -1 known missense c.1481 p.G494D 1.000 NULL pfam_GKAP - no_errors DLGAP3 HGNC ENSG00000116544 tier1 - - 42 0 0.00 14 3 17.65 9 0 0.00 9 0 0.00 FAM131C 0 genome.wustl.edu 37 1 16384813 16384813 + R SNP G G C TCGA-SI-A71Q-01A-12D-A33E-09 TCGA-SI-A71Q-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289dd857-9301-4214-8ae5-3ae1f84be485 bbc63b41-0a71-4886-9194-ffdeae6bb13f 1 16384813 16384813 G C SNP FAM131C ENST00000494078 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors FAM131C HGNC ENSG00000185519 tier1 - - 124 0 0.00 51 31 37.80 5 0 0.00 0 0 0.00 IFITM3 0 genome.wustl.edu 37 11 320723 320723 + Missense_Mutation SNP C C T TCGA-SI-A71Q-01A-12D-A33E-09 TCGA-SI-A71Q-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289dd857-9301-4214-8ae5-3ae1f84be485 bbc63b41-0a71-4886-9194-ffdeae6bb13f 11 320723 320723 C T SNP IFITM3 ENST00000399808 human ensembl 74_37 -1 known missense c.91 p.V31M 0.000 NULL pfam_CD225/Dispanin_fam - no_errors IFITM3 HGNC ENSG00000142089 tier1 rs199582787 - 63 0 0.00 42 9 17.65 10 0 0.00 8 1 11.11 LOXHD1 0 genome.wustl.edu 37 18 44146368 44146368 + Silent SNP G G T TCGA-SI-A71Q-01A-12D-A33E-09 TCGA-SI-A71Q-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289dd857-9301-4214-8ae5-3ae1f84be485 bbc63b41-0a71-4886-9194-ffdeae6bb13f 18 44146368 44146368 G T SNP LOXHD1 ENST00000536736 human ensembl 74_37 -1 known silent c.2289 p.A763 0.277 pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom - no_errors LOXHD1 HGNC ENSG00000167210 tier1 - - 40 0 0.00 27 4 12.90 21 0 0.00 7 0 0.00 ANKRD20A2 0 genome.wustl.edu 37 9 42375546 42375547 + R INS - - ACACC TCGA-SI-A71Q-01A-12D-A33E-09 TCGA-SI-A71Q-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289dd857-9301-4214-8ae5-3ae1f84be485 bbc63b41-0a71-4886-9194-ffdeae6bb13f 9 42375546 42375547 - ACACC INS ANKRD20A2 ENST00000477139 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors ANKRD20A2 HGNC ENSG00000183148 tier1 0 0 0.00 0 0 0.00 0 0 0.00 0 0 0.00 ENSG00000221664 0 genome.wustl.edu 37 1 77857120 77857125 + R DEL ATATAC ATATAC - TCGA-SI-A71Q-01A-12D-A33E-09 TCGA-SI-A71Q-10A-01D-A33H-09 ATATAC ATATAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289dd857-9301-4214-8ae5-3ae1f84be485 bbc63b41-0a71-4886-9194-ffdeae6bb13f 1 77857120 77857125 ATATAC - DEL ENSG00000221664 ENST00000408737 human ensembl 74_37 -1 novel rna NULL NULL 0.993:0.996:0.997:0.998:0.999:0.999 - - - no_errors AC095030.1 Clone_based_ensembl_gene ENSG00000221664 tier1 0 0 0.00 0 0 0.00 0 0 0.00 0 0 0.00 ENSG00000239012 0 genome.wustl.edu 37 1 142653747 142653747 + R SNP G G T TCGA-SI-A71Q-01A-12D-A33E-09 TCGA-SI-A71Q-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289dd857-9301-4214-8ae5-3ae1f84be485 bbc63b41-0a71-4886-9194-ffdeae6bb13f 1 142653747 142653747 G T SNP ENSG00000239012 ENST00000459390 human ensembl 74_37 +1 novel rna NULL NULL 0.000 - - - no_errors AL583842.1 Clone_based_ensembl_gene ENSG00000239012 tier1 - - 235 1 0.42 414 65 13.54 0 0 0.00 0 0 0.00 HNRNPA3 0 genome.wustl.edu 37 2 178080861 178080861 + Missense_Mutation SNP G G T TCGA-SI-A71Q-01A-12D-A33E-09 TCGA-SI-A71Q-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289dd857-9301-4214-8ae5-3ae1f84be485 bbc63b41-0a71-4886-9194-ffdeae6bb13f 2 178080861 178080861 G T SNP HNRNPA3 ENST00000392524 human ensembl 74_37 +1 known missense c.498 p.K166N 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPA3 HGNC ENSG00000170144 tier1 - - 31 0 0.00 20 4 16.67 1 0 0.00 0 0 0.00 MT-ATP6 0 genome.wustl.edu 37 MT 8714 8714 + Missense_Mutation SNP C C A TCGA-SI-A71Q-01A-12D-A33E-09 TCGA-SI-A71Q-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289dd857-9301-4214-8ae5-3ae1f84be485 bbc63b41-0a71-4886-9194-ffdeae6bb13f MT 8714 8714 C A SNP MT-ATP6 ENST00000361899 human ensembl 74_37 +1 known missense c.188 p.T63N NULL pfam_ATPase_F0-cplx_asu,superfamily_ATPase_F0-cplx_asu,tigrfam_ATPase_F0-cplx_asu pfam_ATPase_F0-cplx_asu,superfamily_ATPase_F0-cplx_asu,prints_ATPase_F0-cplx_asu,tigrfam_ATPase_F0-cplx_asu - no_errors MT-ATP6 HGNC ENSG00000198899 tier1 - - 46 0 0.00 9 2 18.18 4 0 0.00 0 0 0.00 WASH3P 0 genome.wustl.edu 37 15 102515340 102515340 + R SNP G G A TCGA-SI-A71Q-01A-12D-A33E-09 TCGA-SI-A71Q-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289dd857-9301-4214-8ae5-3ae1f84be485 bbc63b41-0a71-4886-9194-ffdeae6bb13f 15 102515340 102515340 G A SNP WASH3P ENST00000557932 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors WASH3P HGNC ENSG00000185596 tier1 - - 305 0 0.00 89 68 43.31 0 0 0.00 1 0 0.00 CBWD1 0 genome.wustl.edu 37 9 122049 122049 + Silent SNP G G A TCGA-SI-A71Q-01A-12D-A33E-09 TCGA-SI-A71Q-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 289dd857-9301-4214-8ae5-3ae1f84be485 bbc63b41-0a71-4886-9194-ffdeae6bb13f 9 122049 122049 G A SNP CBWD1 ENST00000356521 human ensembl 74_37 -1 known silent c.993 p.V331 1.000 pfam_Cbl_biosynth_CobW-like_C,superfamily_Cbl_biosynth_CobW-like_C pfam_CobW/HypB/UreG_dom,pfam_Cbl_biosynth_CobW-like_C,superfamily_P-loop_NTPase,superfamily_Cbl_biosynth_CobW-like_C - no_errors CBWD1 HGNC ENSG00000172785 tier1 - - 181 0 0.00 5 108 95.58 2 0 0.00 0 2 100.00