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 LILRA4 0 genome.wustl.edu 37 19 54844969 54844969 + Silent SNP C C T TCGA-DX-A7EI-01A-11D-A33E-09 TCGA-DX-A7EI-10A-01D-A33H-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq be26a68a-6f7b-4f67-94ba-2def13816208 ececb6a0-c3f5-4daa-84c1-d752cacc49e7 19 54844969 54844969 C T SNP LILRA4 ENST00000291759 human ensembl 74_37 -1 known silent c.1374 p.L458 0.000 pirsf_A1B_glyco/leuk_Ig-like_rcpt smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like_dom - no_errors LILRA4 HGNC ENSG00000239961 tier1 - - 74 0 0.00 43 43 50.00 27 0 0.00 13 14 51.85 CLPX 0 genome.wustl.edu 37 15 65450174 65450174 + Missense_Mutation SNP T T C TCGA-DX-A7EI-01A-11D-A33E-09 TCGA-DX-A7EI-10A-01D-A33H-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq be26a68a-6f7b-4f67-94ba-2def13816208 ececb6a0-c3f5-4daa-84c1-d752cacc49e7 15 65450174 65450174 T C SNP CLPX ENST00000300107 human ensembl 74_37 -1 known missense c.967 p.T323A 1.000 pfam_ATPase_AAA-2,pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_Sigma_54_int,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_Clp_protease_ATP-bd_su_ClpX pfam_ATPase_AAA-2,pfam_Clp_ATPase_C,pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_Sigma_54_int,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_Clp_protease_ATP-bd_su_ClpX - no_errors CLPX HGNC ENSG00000166855 tier1 - - 80 0 0.00 48 61 55.96 67 0 0.00 44 49 52.69 PIK3C2G 0 genome.wustl.edu 37 12 18439811 18439811 + Missense_Mutation SNP G G T TCGA-DX-A7EI-01A-11D-A33E-09 TCGA-DX-A7EI-10A-01D-A33H-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq be26a68a-6f7b-4f67-94ba-2def13816208 ececb6a0-c3f5-4daa-84c1-d752cacc49e7 12 18439811 18439811 G T SNP PIK3C2G ENST00000538779 human ensembl 74_37 +1 known missense c.709 p.V237L 0.990 NULL pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_Phox,pfam_PI3K_Ras-bd_dom,pfam_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,superfamily_Phox,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_dom,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C2G HGNC ENSG00000139144 tier1 - - 93 0 0.00 50 65 56.52 80 0 0.00 60 54 47.37 IL17RD 0 genome.wustl.edu 37 3 57132322 57132322 + Missense_Mutation SNP G G A TCGA-DX-A7EI-01A-11D-A33E-09 TCGA-DX-A7EI-10A-01D-A33H-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq be26a68a-6f7b-4f67-94ba-2def13816208 ececb6a0-c3f5-4daa-84c1-d752cacc49e7 3 57132322 57132322 G A SNP IL17RD ENST00000296318 human ensembl 74_37 -1 known missense c.1409 p.A470V 0.000 pfam_SEFIR pfam_SEFIR,superfamily_TIR_dom - no_errors IL17RD HGNC ENSG00000144730 tier1 - - 27 0 0.00 38 10 20.83 54 0 0.00 34 14 29.17 SPATA31D1 0 genome.wustl.edu 37 9 84609274 84609274 + Missense_Mutation SNP G G A TCGA-DX-A7EI-01A-11D-A33E-09 TCGA-DX-A7EI-10A-01D-A33H-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq be26a68a-6f7b-4f67-94ba-2def13816208 ececb6a0-c3f5-4daa-84c1-d752cacc49e7 9 84609274 84609274 G A SNP SPATA31D1 ENST00000344803 human ensembl 74_37 +1 known missense c.3889 p.V1297M 0.000 NULL NULL - no_errors SPATA31D1 HGNC ENSG00000214929 tier1 - - 40 0 0.00 35 42 54.55 82 0 0.00 43 40 48.19 ABAT 0 genome.wustl.edu 37 16 8857959 8857959 + Silent SNP C C T TCGA-DX-A7EI-01A-11D-A33E-09 TCGA-DX-A7EI-10A-01D-A33H-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq be26a68a-6f7b-4f67-94ba-2def13816208 ececb6a0-c3f5-4daa-84c1-d752cacc49e7 16 8857959 8857959 C T SNP ABAT ENST00000268251 human ensembl 74_37 +1 known silent c.400 p.L134 1.000 pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase,tigrfam_4NH2But_aminotransferase_euk pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase,tigrfam_4NH2But_aminotransferase_euk - no_errors ABAT HGNC ENSG00000183044 tier1 - - 33 0 0.00 35 26 41.94 52 0 0.00 21 18 46.15 PRAMEF19 0 genome.wustl.edu 37 1 13695804 13695804 + Missense_Mutation SNP A A T TCGA-DX-A7EI-01A-11D-A33E-09 TCGA-DX-A7EI-10A-01D-A33H-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq be26a68a-6f7b-4f67-94ba-2def13816208 ececb6a0-c3f5-4daa-84c1-d752cacc49e7 1 13695804 13695804 A T SNP PRAMEF19 ENST00000540591 human ensembl 74_37 -1 known missense c.1161 p.N387K 0.002 NULL NULL - no_errors PRAMEF19 HGNC ENSG00000204480 tier1 - - 120 0 0.00 69 31 31.00 24 0 0.00 18 4 18.18 CNST 0 genome.wustl.edu 37 1 246810848 246810848 + Missense_Mutation SNP G G C TCGA-DX-A7EI-01A-11D-A33E-09 TCGA-DX-A7EI-10A-01D-A33H-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq be26a68a-6f7b-4f67-94ba-2def13816208 ececb6a0-c3f5-4daa-84c1-d752cacc49e7 1 246810848 246810848 G C SNP CNST ENST00000366513 human ensembl 74_37 +1 known missense c.1345 p.E449Q 0.012 NULL NULL - no_errors CNST HGNC ENSG00000162852 tier1 - - 42 0 0.00 73 19 20.65 66 1 1.49 124 49 28.32 DH14 0 genome.wustl.edu 37 1 225539462 225539462 + Missense_Mutation SNP C C G TCGA-DX-A7EI-01A-11D-A33E-09 TCGA-DX-A7EI-10A-01D-A33H-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq be26a68a-6f7b-4f67-94ba-2def13816208 ececb6a0-c3f5-4daa-84c1-d752cacc49e7 1 225539462 225539462 C G SNP DH14 ENST00000430092 human ensembl 74_37 +1 known missense c.11131 p.L3711V 0.988 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Tautomerase/MIF_sf,smart_AAA+_ATPase - no_errors DH14 HGNC ENSG00000185842 tier1 - - 63 0 0.00 91 10 9.90 136 0 0.00 127 47 27.01 CHMP4B 0 genome.wustl.edu 37 20 32438798 32438798 + Missense_Mutation SNP G G C TCGA-DX-A7EI-01A-11D-A33E-09 TCGA-DX-A7EI-10A-01D-A33H-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq be26a68a-6f7b-4f67-94ba-2def13816208 ececb6a0-c3f5-4daa-84c1-d752cacc49e7 20 32438798 32438798 G C SNP CHMP4B ENST00000217402 human ensembl 74_37 +1 known missense c.409 p.D137H 1.000 pfam_Snf7 pfam_Snf7 - no_errors CHMP4B HGNC ENSG00000101421 tier1 - - 86 0 0.00 144 27 15.79 47 0 0.00 35 17 32.69 UGT8 0 genome.wustl.edu 37 4 115544435 115544435 + Missense_Mutation SNP C C A TCGA-DX-A7EI-01A-11D-A33E-09 TCGA-DX-A7EI-10A-01D-A33H-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq be26a68a-6f7b-4f67-94ba-2def13816208 ececb6a0-c3f5-4daa-84c1-d752cacc49e7 4 115544435 115544435 C A SNP UGT8 ENST00000310836 human ensembl 74_37 +1 known missense c.399 p.D133E 1.000 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT8 HGNC ENSG00000174607 tier1 - - 48 0 0.00 40 5 11.11 88 0 0.00 55 19 25.68 TUBA3E 0 genome.wustl.edu 37 2 130951829 130951829 + Missense_Mutation SNP C C T TCGA-DX-A7EI-01A-11D-A33E-09 TCGA-DX-A7EI-10A-01D-A33H-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq be26a68a-6f7b-4f67-94ba-2def13816208 ececb6a0-c3f5-4daa-84c1-d752cacc49e7 2 130951829 130951829 C T SNP TUBA3E ENST00000312988 human ensembl 74_37 -1 known missense c.586 p.E196K 1.000 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin - no_errors TUBA3E HGNC ENSG00000152086 tier1 - - 103 0 0.00 46 52 52.53 24 0 0.00 13 15 53.57 RANBP17 0 genome.wustl.edu 37 5 170632550 170632550 + Missense_Mutation SNP G G C TCGA-DX-A7EI-01A-11D-A33E-09 TCGA-DX-A7EI-10A-01D-A33H-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq be26a68a-6f7b-4f67-94ba-2def13816208 ececb6a0-c3f5-4daa-84c1-d752cacc49e7 5 170632550 170632550 G C SNP RANBP17 ENST00000523189 human ensembl 74_37 +1 known missense c.2165 p.R722T 1.000 superfamily_ARM-type_fold pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N - no_errors RANBP17 HGNC ENSG00000204764 tier1 - - 60 0 0.00 96 17 15.04 98 0 0.00 125 18 12.59 CRTC2 0 genome.wustl.edu 37 1 153924094 153924094 + Missense_Mutation SNP T T C TCGA-DX-A7EI-01A-11D-A33E-09 TCGA-DX-A7EI-10A-01D-A33H-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq be26a68a-6f7b-4f67-94ba-2def13816208 ececb6a0-c3f5-4daa-84c1-d752cacc49e7 1 153924094 153924094 T C SNP CRTC2 ENST00000368633 human ensembl 74_37 -1 known missense c.1046 p.N349S 1.000 NULL NULL - no_errors CRTC2 HGNC ENSG00000160741 tier1 - - 34 0 0.00 58 54 48.21 47 0 0.00 60 64 51.61 ANGEL2 0 genome.wustl.edu 37 1 213186627 213186627 + Missense_Mutation SNP G G T TCGA-DX-A7EI-01A-11D-A33E-09 TCGA-DX-A7EI-10A-01D-A33H-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq be26a68a-6f7b-4f67-94ba-2def13816208 ececb6a0-c3f5-4daa-84c1-d752cacc49e7 1 213186627 213186627 G T SNP ANGEL2 ENST00000366962 human ensembl 74_37 -1 known missense c.193 p.P65T 0.993 NULL pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase - no_errors ANGEL2 HGNC ENSG00000174606 tier1 - - 76 0 0.00 74 51 40.80 127 0 0.00 97 95 49.48 FL 0 genome.wustl.edu 37 X 153587439 153587439 + Missense_Mutation SNP C C G TCGA-DX-A7EI-01A-11D-A33E-09 TCGA-DX-A7EI-10A-01D-A33H-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq be26a68a-6f7b-4f67-94ba-2def13816208 ececb6a0-c3f5-4daa-84c1-d752cacc49e7 X 153587439 153587439 C G SNP FL ENST00000369850 human ensembl 74_37 -1 known missense c.4387 p.V1463L 1.000 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FL HGNC ENSG00000196924 tier1 - - 58 0 0.00 44 18 29.03 17 0 0.00 45 18 28.57 PTPRVP 0 genome.wustl.edu 37 1 202146847 202146847 + R SNP C C T TCGA-DX-A7EI-01A-11D-A33E-09 TCGA-DX-A7EI-10A-01D-A33H-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq be26a68a-6f7b-4f67-94ba-2def13816208 ececb6a0-c3f5-4daa-84c1-d752cacc49e7 1 202146847 202146847 C T SNP PTPRVP ENST00000482597 human ensembl 74_37 +1 known rna NULL NULL 0.347 - - - no_errors PTPRVP HGNC ENSG00000243323 tier1 - - 36 0 0.00 35 12 25.53 11 0 0.00 11 12 52.17 CYP39A1 0 genome.wustl.edu 37 6 46518104 46518104 + Silent SNP C C T TCGA-DX-A7EI-01A-11D-A33E-09 TCGA-DX-A7EI-10A-01D-A33H-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq be26a68a-6f7b-4f67-94ba-2def13816208 ececb6a0-c3f5-4daa-84c1-d752cacc49e7 6 46518104 46518104 C T SNP CYP39A1 ENST00000275016 human ensembl 74_37 -1 known silent c.1409 p.*470 0.929 NULL pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I - no_errors CYP39A1 HGNC ENSG00000146233 tier1 - - 47 0 0.00 30 202 86.70 79 0 0.00 60 300 82.87 CCDC132 0 genome.wustl.edu 37 7 92985322 92985322 + Missense_Mutation SNP T T G TCGA-DX-A7EI-01A-11D-A33E-09 TCGA-DX-A7EI-10A-01D-A33H-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq be26a68a-6f7b-4f67-94ba-2def13816208 ececb6a0-c3f5-4daa-84c1-d752cacc49e7 7 92985322 92985322 T G SNP CCDC132 ENST00000305866 human ensembl 74_37 +1 known missense c.2705 p.F902C 1.000 pfam_DUF2451_C pfam_Vacuolar_sorting-assoc_54,pfam_DUF2451_C - no_errors CCDC132 HGNC ENSG00000004766 tier1 - - 66 0 0.00 31 46 59.74 92 0 0.00 48 33 40.74 MXRA5 0 genome.wustl.edu 37 X 3236006 3236006 + Missense_Mutation SNP C C G TCGA-DX-A7EI-01A-11D-A33E-09 TCGA-DX-A7EI-10A-01D-A33H-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq be26a68a-6f7b-4f67-94ba-2def13816208 ececb6a0-c3f5-4daa-84c1-d752cacc49e7 X 3236006 3236006 C G SNP MXRA5 ENST00000217939 human ensembl 74_37 -1 known missense c.5716 p.E1906Q 1.000 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_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MXRA5 HGNC ENSG00000101825 tier1 - - 32 0 0.00 54 12 18.18 21 0 0.00 43 15 25.86 EML6 0 genome.wustl.edu 37 2 55184997 55184997 + Silent SNP C C T TCGA-DX-A7EI-01A-11D-A33E-09 TCGA-DX-A7EI-10A-01D-A33H-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq be26a68a-6f7b-4f67-94ba-2def13816208 ececb6a0-c3f5-4daa-84c1-d752cacc49e7 2 55184997 55184997 C T SNP EML6 ENST00000356458 human ensembl 74_37 +1 novel silent c.4557 p.D1519 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_HELP,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML6 HGNC ENSG00000214595 tier1 - - 80 0 0.00 58 15 20.55 82 0 0.00 56 13 18.84 SLC9C2 0 genome.wustl.edu 37 1 173526547 173526547 + Missense_Mutation SNP C C T TCGA-DX-A7EI-01A-11D-A33E-09 TCGA-DX-A7EI-10A-01D-A33H-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq be26a68a-6f7b-4f67-94ba-2def13816208 ececb6a0-c3f5-4daa-84c1-d752cacc49e7 1 173526547 173526547 C T SNP SLC9C2 ENST00000367714 human ensembl 74_37 -1 known missense c.1147 p.V383I 0.000 pfam_Cation/H_exchanger pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors SLC9C2 HGNC ENSG00000162753 tier1 - - 84 0 0.00 51 23 30.67 125 0 0.00 49 23 31.94 GYPC 0 genome.wustl.edu 37 2 127453545 127453545 + Missense_Mutation SNP G G A TCGA-DX-A7EI-01A-11D-A33E-09 TCGA-DX-A7EI-10A-01D-A33H-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq be26a68a-6f7b-4f67-94ba-2def13816208 ececb6a0-c3f5-4daa-84c1-d752cacc49e7 2 127453545 127453545 G A SNP GYPC ENST00000259254 human ensembl 74_37 +1 known missense c.214 p.V72I 0.965 NULL smart_Neurexin-like - no_errors GYPC HGNC ENSG00000136732 tier1 rs200879714 - 24 0 0.00 9 18 64.29 54 0 0.00 19 20 51.28 RPL7L1 0 genome.wustl.edu 37 6 42851403 42851403 + R SNP T T G TCGA-DX-A7EI-01A-11D-A33E-09 TCGA-DX-A7EI-10A-01D-A33H-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq be26a68a-6f7b-4f67-94ba-2def13816208 ececb6a0-c3f5-4daa-84c1-d752cacc49e7 6 42851403 42851403 T G SNP RPL7L1 ENST00000487619 human ensembl 74_37 +1 putative rna NULL NULL 0.015 - - - no_errors RPL7L1 HGNC ENSG00000146223 tier1 - - 70 0 0.00 58 35 37.63 77 0 0.00 66 8 10.81 C1orf61 0 genome.wustl.edu 37 1 156386395 156386395 + R SNP C C A TCGA-DX-A7EI-01A-11D-A33E-09 TCGA-DX-A7EI-10A-01D-A33H-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq be26a68a-6f7b-4f67-94ba-2def13816208 ececb6a0-c3f5-4daa-84c1-d752cacc49e7 1 156386395 156386395 C A SNP C1orf61 ENST00000462458 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors C1orf61 HGNC ENSG00000125462 tier1 - - 13 0 0.00 12 6 33.33 115 0 0.00 129 18 12.24 B4GALNT1 0 genome.wustl.edu 37 12 58022875 58022875 + Missense_Mutation SNP G G A TCGA-DX-A7EI-01A-11D-A33E-09 TCGA-DX-A7EI-10A-01D-A33H-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq be26a68a-6f7b-4f67-94ba-2def13816208 ececb6a0-c3f5-4daa-84c1-d752cacc49e7 12 58022875 58022875 G A SNP B4GALNT1 ENST00000341156 human ensembl 74_37 -1 known missense c.767 p.P256L 0.038 pirsf_GM2_synthase pfam_Glyco_trans_2,pirsf_GM2_synthase - no_errors B4GALNT1 HGNC ENSG00000135454 tier1 rs200510000 - 69 0 0.00 691 142 17.03 73 0 0.00 760 135 15.07 C4BPB 0 genome.wustl.edu 37 1 207271592 207271592 + Missense_Mutation SNP G G C TCGA-DX-A7EI-01A-11D-A33E-09 TCGA-DX-A7EI-10A-01D-A33H-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq be26a68a-6f7b-4f67-94ba-2def13816208 ececb6a0-c3f5-4daa-84c1-d752cacc49e7 1 207271592 207271592 G C SNP C4BPB ENST00000243611 human ensembl 74_37 +1 known missense c.601 p.E201Q 0.001 NULL pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors C4BPB HGNC ENSG00000123843 tier1 - - 83 0 0.00 32 57 64.04 140 0 0.00 31 47 60.26 PRODH2 0 genome.wustl.edu 37 19 36297635 36297635 + Nonsense_Mutation SNP C C T TCGA-DX-A7EI-01A-11D-A33E-09 TCGA-DX-A7EI-10A-01D-A33H-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq be26a68a-6f7b-4f67-94ba-2def13816208 ececb6a0-c3f5-4daa-84c1-d752cacc49e7 19 36297635 36297635 C T SNP PRODH2 ENST00000301175 human ensembl 74_37 -1 known nonsense c.1004 p.W335* 1.000 pfam_Proline_DH pfam_Proline_DH - no_errors PRODH2 HGNC ENSG00000250799 tier1 - - 83 0 0.00 1239 164 11.66 18 0 0.00 267 32 10.63 FAM209A 0 genome.wustl.edu 37 20 55093337 55093337 + R SNP C C T TCGA-DX-A7EI-01A-11D-A33E-09 TCGA-DX-A7EI-10A-01D-A33H-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq be26a68a-6f7b-4f67-94ba-2def13816208 ececb6a0-c3f5-4daa-84c1-d752cacc49e7 20 55093337 55093337 C T SNP FAM209A ENST00000481560 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors FAM209A HGNC ENSG00000124103 tier1 - - 39 0 0.00 38 39 50.65 86 0 0.00 43 69 61.61 CST3 0 genome.wustl.edu 37 20 23618269 23618282 + Frame_Shift_Del DEL GCGCACCACCTGCA GCGCACCACCTGCA - TCGA-DX-A7EI-01A-11D-A33E-09 TCGA-DX-A7EI-10A-01D-A33H-09 GCGCACCACCTGCA GCGCACCACCTGCA GCGCACCACCTGCA - GCGCACCACCTGCA GCGCACCACCTGCA Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq be26a68a-6f7b-4f67-94ba-2def13816208 ececb6a0-c3f5-4daa-84c1-d752cacc49e7 20 23618269 23618282 GCGCACCACCTGCA - DEL CST3 ENST00000376925 human ensembl 74_37 -1 known frame_shift_del c.231_218 p.L73fs 0.010:0.014:0.007:0.010:0.010:0.003:0.010:0.026:0.021:0.004:0.000:0.000:0.000:0.000 pfam_Prot_inh_cystat,smart_Prot_inh_cystat pfam_Prot_inh_cystat,smart_Prot_inh_cystat - no_errors CST3 HGNC ENSG00000101439 tier1 5 0 0.00 10 3 23.08 5 0 0.00 10 3 23.08 C2orf69 0 genome.wustl.edu 37 2 200820505 200820505 + R DEL T T - TCGA-DX-A7EI-01A-11D-A33E-09 TCGA-DX-A7EI-10A-01D-A33H-09 T T T - T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq be26a68a-6f7b-4f67-94ba-2def13816208 ececb6a0-c3f5-4daa-84c1-d752cacc49e7 2 200820505 200820505 T - DEL C2orf69 ENST00000491721 human ensembl 74_37 +1 known rna NULL NULL 0.987 - - - no_errors C2orf69 HGNC ENSG00000178074 tier1 35 0 0.00 10 9 47.37 38 0 0.00 24 21 46.67 APC 0 genome.wustl.edu 37 5 112175084 112175084 + Nonsense_Mutation SNP G G T TCGA-DX-A7EI-01A-11D-A33E-09 TCGA-DX-A7EI-10A-01D-A33H-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq be26a68a-6f7b-4f67-94ba-2def13816208 ececb6a0-c3f5-4daa-84c1-d752cacc49e7 5 112175084 112175084 G T SNP APC ENST00000257430 human ensembl 74_37 +1 known nonsense c.3793 p.E1265* 1.000 pfam_APC_Cys-rich_rpt pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors APC HGNC ENSG00000134982 tier1 - - 31 0 0.00 2 22 91.67 60 0 0.00 3 19 86.36 CWH43 0 genome.wustl.edu 37 4 49005809 49005809 + Missense_Mutation SNP G G C TCGA-DX-A7EI-01A-11D-A33E-09 TCGA-DX-A7EI-10A-01D-A33H-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq be26a68a-6f7b-4f67-94ba-2def13816208 ececb6a0-c3f5-4daa-84c1-d752cacc49e7 4 49005809 49005809 G C SNP CWH43 ENST00000226432 human ensembl 74_37 +1 known missense c.860 p.G287A 0.574 NULL superfamily_Endo/exonuclease/phosphatase - no_errors CWH43 HGNC ENSG00000109182 tier1 - - 36 0 0.00 1 16 94.12 77 0 0.00 4 38 90.48 KC4 0 genome.wustl.edu 37 11 30033192 30033192 + Missense_Mutation SNP C C A TCGA-DX-A7EI-01A-11D-A33E-09 TCGA-DX-A7EI-10A-01D-A33H-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq be26a68a-6f7b-4f67-94ba-2def13816208 ececb6a0-c3f5-4daa-84c1-d752cacc49e7 11 30033192 30033192 C A SNP KC4 ENST00000328224 human ensembl 74_37 -1 known missense c.1034 p.G345V 0.129 NULL pfam_K_chnl_volt-dep_Kv1.4_TID,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_Kv1.4,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KC4 HGNC ENSG00000182255 tier1 - - 60 0 0.00 3 23 88.46 69 0 0.00 3 30 88.24 MXD3 0 genome.wustl.edu 37 5 176734831 176734831 + Silent SNP G G A TCGA-DX-A7EI-01A-11D-A33E-09 TCGA-DX-A7EI-10A-01D-A33H-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq be26a68a-6f7b-4f67-94ba-2def13816208 ececb6a0-c3f5-4daa-84c1-d752cacc49e7 5 176734831 176734831 G A SNP MXD3 ENST00000439742 human ensembl 74_37 -1 known silent c.456 p.D152 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MXD3 HGNC ENSG00000213347 tier1 - - 28 0 0.00 41 18 30.51 7 0 0.00 5 4 44.44 RNF213 0 genome.wustl.edu 37 17 78313806 78313806 + Missense_Mutation SNP G G A TCGA-DX-A7EI-01A-11D-A33E-09 TCGA-DX-A7EI-10A-01D-A33H-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq be26a68a-6f7b-4f67-94ba-2def13816208 ececb6a0-c3f5-4daa-84c1-d752cacc49e7 17 78313806 78313806 G A SNP RNF213 ENST00000582970 human ensembl 74_37 +1 known missense c.5639 p.R1880H 1.000 NULL superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 tier1 - - 26 0 0.00 2 32 94.12 11 0 0.00 0 9 100.00 TRAF4 0 genome.wustl.edu 37 17 27076468 27076468 + Splice_Site SNP A A G TCGA-DX-A7EI-01A-11D-A33E-09 TCGA-DX-A7EI-10A-01D-A33H-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq be26a68a-6f7b-4f67-94ba-2def13816208 ececb6a0-c3f5-4daa-84c1-d752cacc49e7 17 27076468 27076468 A G SNP TRAF4 ENST00000262396 human ensembl 74_37 +1 novel splice_site c.463-2 e5-2 1.000 - - - no_errors TRAF4 HGNC ENSG00000076604 tier1 - - 37 0 0.00 0 21 100.00 89 0 0.00 4 44 91.67 GOLGA6L4 0 genome.wustl.edu 37 15 82934933 82934933 + Missense_Mutation SNP T T C TCGA-DX-A7EI-01A-11D-A33E-09 TCGA-DX-A7EI-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be26a68a-6f7b-4f67-94ba-2def13816208 ececb6a0-c3f5-4daa-84c1-d752cacc49e7 15 82934933 82934933 T C SNP GOLGA6L4 ENST00000559949 human ensembl 74_37 -1 putative missense c.647 p.H216R 0.551 NULL NULL - no_errors RP13-996F3.5 Clone_based_vega_gene ENSG00000215749 tier1 - - 15 0 0.00 20 11 35.48 0 0 0.00 1 0 0.00 LOC101927345 0 genome.wustl.edu 37 1 143380773 143380773 + R SNP T T A TCGA-DX-A7EI-01A-11D-A33E-09 TCGA-DX-A7EI-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be26a68a-6f7b-4f67-94ba-2def13816208 ececb6a0-c3f5-4daa-84c1-d752cacc49e7 1 143380773 143380773 T A SNP LOC101927345 ENST00000423394 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-435B5.5 Clone_based_vega_gene ENSG00000238261 tier1 rs200474762 - 21 0 0.00 11 4 26.67 1 0 0.00 0 0 0.00 MT-RNR2 0 genome.wustl.edu 37 MT 2833 2833 + R SNP A A G TCGA-DX-A7EI-01A-11D-A33E-09 TCGA-DX-A7EI-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq be26a68a-6f7b-4f67-94ba-2def13816208 ececb6a0-c3f5-4daa-84c1-d752cacc49e7 MT 2833 2833 A G SNP MT-RNR2 ENST00000387347 human ensembl 74_37 +1 known rna NULL NULL NULL - - - no_errors MT-RNR2 HGNC ENSG00000210082 tier1 rs3928312 - 261 0 0.00 9 134 93.71 4 0 0.00 0 1 100.00