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 AFF2 0 genome.wustl.edu 37 X 148037568 148037568 + Missense_Mutation SNP G G T TCGA-IS-A3K6-01A-11D-A21Q-09 TCGA-IS-A3K6-10A-01D-A21Q-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq b9f8cfe2-7763-4819-9eba-216402df0178 bc5408cd-0b90-4d80-a68b-4c8ced85ff2a X 148037568 148037568 G T SNP AFF2 ENST00000370460 human ensembl 74_37 +1 known missense c.1993 p.D665Y 1.000 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF2 HGNC ENSG00000155966 tier1 - - 30 0 0.00 12 10 45.45 74 0 0.00 55 58 51.33 CCT3 0 genome.wustl.edu 37 1 156307996 156307996 + R SNP G G C TCGA-IS-A3K6-01A-11D-A21Q-09 TCGA-IS-A3K6-10A-01D-A21Q-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq b9f8cfe2-7763-4819-9eba-216402df0178 bc5408cd-0b90-4d80-a68b-4c8ced85ff2a 1 156307996 156307996 G C SNP CCT3 ENST00000368256 human ensembl 74_37 -1 known rna NULL NULL 0.733 - - - no_errors CCT3 HGNC ENSG00000163468 tier1 - - 61 0 0.00 23 19 45.24 55 0 0.00 36 27 42.86 DH3 0 genome.wustl.edu 37 16 20944659 20944659 + Silent SNP G G A TCGA-IS-A3K6-01A-11D-A21Q-09 TCGA-IS-A3K6-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq b9f8cfe2-7763-4819-9eba-216402df0178 bc5408cd-0b90-4d80-a68b-4c8ced85ff2a 16 20944659 20944659 G A SNP DH3 ENST00000261383 human ensembl 74_37 -1 known silent c.12168 p.S4056 0.987 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DH3 HGNC ENSG00000158486 tier1 - - 68 0 0.00 44 32 42.11 79 0 0.00 71 33 31.43 EEF1G 0 genome.wustl.edu 37 11 62327654 62327654 + Nonsense_Mutation SNP G G A TCGA-IS-A3K6-01A-11D-A21Q-09 TCGA-IS-A3K6-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq b9f8cfe2-7763-4819-9eba-216402df0178 bc5408cd-0b90-4d80-a68b-4c8ced85ff2a 11 62327654 62327654 G A SNP EEF1G ENST00000378019 human ensembl 74_37 -1 known nonsense c.1192 p.R398* 1.000 pfam_Transl_elong_EF1_G_con,superfamily_Transl_elong_EF1_G_con,pfscan_Transl_elong_EF1_G_con pfam_Transl_elong_EF1_G_con,pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Transl_elong_EF1_G_con,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,pfscan_Transl_elong_EF1_G_con - no_errors EEF1G HGNC ENSG00000254772 tier1 - - 34 0 0.00 35 6 14.63 102 0 0.00 62 36 36.73 ALAS2 0 genome.wustl.edu 37 X 55047609 55047609 + Missense_Mutation SNP C C A TCGA-IS-A3K6-01A-11D-A21Q-09 TCGA-IS-A3K6-10A-01D-A21Q-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq b9f8cfe2-7763-4819-9eba-216402df0178 bc5408cd-0b90-4d80-a68b-4c8ced85ff2a X 55047609 55047609 C A SNP ALAS2 ENST00000330807 human ensembl 74_37 -1 known missense c.514 p.A172S 1.000 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 - no_errors ALAS2 HGNC ENSG00000158578 tier1 - - 45 0 0.00 21 17 44.74 112 0 0.00 60 43 41.75 SPATA17 0 genome.wustl.edu 37 1 217822309 217822309 + Missense_Mutation SNP A A G TCGA-IS-A3K6-01A-11D-A21Q-09 TCGA-IS-A3K6-10A-01D-A21Q-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq b9f8cfe2-7763-4819-9eba-216402df0178 bc5408cd-0b90-4d80-a68b-4c8ced85ff2a 1 217822309 217822309 A G SNP SPATA17 ENST00000366933 human ensembl 74_37 +1 known missense c.154 p.I52V 0.992 superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors SPATA17 HGNC ENSG00000162814 tier1 - - 35 0 0.00 19 7 26.92 93 0 0.00 78 52 40.00 LRRC37BP1 0 genome.wustl.edu 37 17 28959016 28959016 + R SNP T T G TCGA-IS-A3K6-01A-11D-A21Q-09 TCGA-IS-A3K6-10A-01D-A21Q-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq b9f8cfe2-7763-4819-9eba-216402df0178 bc5408cd-0b90-4d80-a68b-4c8ced85ff2a 17 28959016 28959016 T G SNP LRRC37BP1 ENST00000412831 human ensembl 74_37 +1 known rna NULL NULL 0.024 - - - no_errors LRRC37BP1 HGNC ENSG00000250462 tier1 - - 65 0 0.00 37 15 28.85 77 0 0.00 47 33 41.25 GRK7 0 genome.wustl.edu 37 3 141535883 141535883 + Silent SNP G G A TCGA-IS-A3K6-01A-11D-A21Q-09 TCGA-IS-A3K6-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq b9f8cfe2-7763-4819-9eba-216402df0178 bc5408cd-0b90-4d80-a68b-4c8ced85ff2a 3 141535883 141535883 G A SNP GRK7 ENST00000264952 human ensembl 74_37 +1 known silent c.1653 p.L551 0.938 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RGS_dom,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Regulat_G_prot_signal_superfam,pfscan_Prot_kinase_dom,prints_GPCR_kinase - no_errors GRK7 HGNC ENSG00000114124 tier1 - - 16 0 0.00 5 4 44.44 132 0 0.00 80 70 46.36 CNTLN 0 genome.wustl.edu 37 9 17235703 17235703 + Missense_Mutation SNP A A T TCGA-IS-A3K6-01A-11D-A21Q-09 TCGA-IS-A3K6-10A-01D-A21Q-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq b9f8cfe2-7763-4819-9eba-216402df0178 bc5408cd-0b90-4d80-a68b-4c8ced85ff2a 9 17235703 17235703 A T SNP CNTLN ENST00000380647 human ensembl 74_37 +1 known missense c.582 p.K194N 0.993 superfamily_Prefoldin superfamily_Prefoldin - no_errors CNTLN HGNC ENSG00000044459 tier1 - - 32 0 0.00 19 12 38.71 94 0 0.00 77 50 39.06 OR52L1 0 genome.wustl.edu 37 11 6007208 6007208 + Missense_Mutation SNP C C T TCGA-IS-A3K6-01A-11D-A21Q-09 TCGA-IS-A3K6-10A-01D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq b9f8cfe2-7763-4819-9eba-216402df0178 bc5408cd-0b90-4d80-a68b-4c8ced85ff2a 11 6007208 6007208 C T SNP OR52L1 ENST00000332249 human ensembl 74_37 -1 known missense c.953 p.R318H 0.990 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52L1 HGNC ENSG00000183313 tier1 - - 48 0 0.00 40 20 32.79 88 0 0.00 40 30 42.86 CEP152 0 genome.wustl.edu 37 15 49048344 49048344 + Missense_Mutation SNP C C T TCGA-IS-A3K6-01A-11D-A21Q-09 TCGA-IS-A3K6-10A-01D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq b9f8cfe2-7763-4819-9eba-216402df0178 bc5408cd-0b90-4d80-a68b-4c8ced85ff2a 15 49048344 49048344 C T SNP CEP152 ENST00000380950 human ensembl 74_37 -1 known missense c.3101 p.R1034Q 0.500 NULL NULL - no_errors CEP152 HGNC ENSG00000103995 tier1 - - 63 0 0.00 47 26 35.62 115 0 0.00 65 40 38.10 FRMPD2 0 genome.wustl.edu 37 10 49452869 49452869 + Missense_Mutation SNP C C T TCGA-IS-A3K6-01A-11D-A21Q-09 TCGA-IS-A3K6-10A-01D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq b9f8cfe2-7763-4819-9eba-216402df0178 bc5408cd-0b90-4d80-a68b-4c8ced85ff2a 10 49452869 49452869 C T SNP FRMPD2 ENST00000374201 human ensembl 74_37 -1 known missense c.333 p.M111I 1.000 superfamily_Kinase-like_dom,smart_KIND pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_PDZ,superfamily_FERM_central,superfamily_Kinase-like_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,pfscan_FERM_domain,pfscan_PDZ,prints_Band_41_fam - no_errors FRMPD2 HGNC ENSG00000170324 tier1 - - 25 0 0.00 18 10 35.71 118 1 0.84 85 44 34.11 DTWD1 0 genome.wustl.edu 37 15 49926974 49926974 + Missense_Mutation SNP C C G TCGA-IS-A3K6-01A-11D-A21Q-09 TCGA-IS-A3K6-10A-01D-A21Q-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq b9f8cfe2-7763-4819-9eba-216402df0178 bc5408cd-0b90-4d80-a68b-4c8ced85ff2a 15 49926974 49926974 C G SNP DTWD1 ENST00000251250 human ensembl 74_37 +1 known missense c.650 p.T217S 0.947 pfam_DTW pfam_DTW - no_errors DTWD1 HGNC ENSG00000104047 tier1 - - 22 0 0.00 10 5 33.33 50 0 0.00 44 29 39.73 TP53 0 genome.wustl.edu 37 17 7577130 7577130 + Missense_Mutation SNP A A C TCGA-IS-A3K6-01A-11D-A21Q-09 TCGA-IS-A3K6-10A-01D-A21Q-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq b9f8cfe2-7763-4819-9eba-216402df0178 bc5408cd-0b90-4d80-a68b-4c8ced85ff2a 17 7577130 7577130 A C SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.808 p.F270V 1.000 pfam_p53_D-bd,superfamily_p53-like_TF_D-bd,prints_p53_tumour_suppressor pfam_p53_D-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_D-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 - - 29 0 0.00 7 13 65.00 89 0 0.00 18 52 74.29 C2orf42 0 genome.wustl.edu 37 2 70387846 70387846 + Missense_Mutation SNP A A T TCGA-IS-A3K6-01A-11D-A21Q-09 TCGA-IS-A3K6-10A-01D-A21Q-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq b9f8cfe2-7763-4819-9eba-216402df0178 bc5408cd-0b90-4d80-a68b-4c8ced85ff2a 2 70387846 70387846 A T SNP C2orf42 ENST00000264434 human ensembl 74_37 -1 known missense c.1427 p.V476E 1.000 NULL NULL - no_errors C2orf42 HGNC ENSG00000115998 tier1 - - 56 0 0.00 41 39 48.75 142 0 0.00 87 65 42.76 OR51V1 0 genome.wustl.edu 37 11 5221043 5221043 + Missense_Mutation SNP C C T TCGA-IS-A3K6-01A-11D-A21Q-09 TCGA-IS-A3K6-10A-01D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq b9f8cfe2-7763-4819-9eba-216402df0178 bc5408cd-0b90-4d80-a68b-4c8ced85ff2a 11 5221043 5221043 C T SNP OR51V1 ENST00000321255 human ensembl 74_37 -1 known missense c.888 p.M296I 0.997 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51V1 HGNC ENSG00000176742 tier1 - - 91 0 0.00 46 40 46.51 88 0 0.00 57 56 49.56 ZFAND3 0 genome.wustl.edu 37 6 38120497 38120497 + R SNP C C T TCGA-IS-A3K6-01A-11D-A21Q-09 TCGA-IS-A3K6-10A-01D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq b9f8cfe2-7763-4819-9eba-216402df0178 bc5408cd-0b90-4d80-a68b-4c8ced85ff2a 6 38120497 38120497 C T SNP ZFAND3 ENST00000440482 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors ZFAND3 HGNC ENSG00000156639 tier1 - - 31 0 0.00 14 15 50.00 130 0 0.00 57 57 49.57 PML 0 genome.wustl.edu 37 15 74315216 74315216 + Missense_Mutation SNP T T A TCGA-IS-A3K6-01A-11D-A21Q-09 TCGA-IS-A3K6-10A-01D-A21Q-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq b9f8cfe2-7763-4819-9eba-216402df0178 bc5408cd-0b90-4d80-a68b-4c8ced85ff2a 15 74315216 74315216 T A SNP PML ENST00000268058 human ensembl 74_37 +1 known missense c.650 p.L217H 0.990 pfscan_Znf_B-box pfam_DUF3583,pfam_Znf_B-box,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors PML HGNC ENSG00000140464 tier1 - - 24 0 0.00 17 8 32.00 26 0 0.00 18 7 28.00 WNK4 0 genome.wustl.edu 37 17 40936573 40936573 + Silent SNP G G A TCGA-IS-A3K6-01A-11D-A21Q-09 TCGA-IS-A3K6-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq b9f8cfe2-7763-4819-9eba-216402df0178 bc5408cd-0b90-4d80-a68b-4c8ced85ff2a 17 40936573 40936573 G A SNP WNK4 ENST00000246914 human ensembl 74_37 +1 known silent c.1146 p.A382 0.708 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors WNK4 HGNC ENSG00000126562 tier1 - - 44 0 0.00 41 13 24.07 65 0 0.00 50 19 27.54 SETD1B 0 genome.wustl.edu 37 12 122257636 122257636 + Missense_Mutation SNP A A G TCGA-IS-A3K6-01A-11D-A21Q-09 TCGA-IS-A3K6-10A-01D-A21Q-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq b9f8cfe2-7763-4819-9eba-216402df0178 bc5408cd-0b90-4d80-a68b-4c8ced85ff2a 12 122257636 122257636 A G SNP SETD1B ENST00000267197 human ensembl 74_37 +1 known missense c.3616 p.M1206V 0.000 NULL pfam_COMPASS_Set1_N-SET,pfam_SET_dom,pfam_RRM_dom,smart_RRM_dom,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_RRM_dom - no_errors SETD1B HGNC ENSG00000139718 tier1 - - 118 0 0.00 101 32 24.06 32 0 0.00 30 8 21.05 USH1C 0 genome.wustl.edu 37 11 17515733 17515733 + R SNP G G T TCGA-IS-A3K6-01A-11D-A21Q-09 TCGA-IS-A3K6-10A-01D-A21Q-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq b9f8cfe2-7763-4819-9eba-216402df0178 bc5408cd-0b90-4d80-a68b-4c8ced85ff2a 11 17515733 17515733 G T SNP USH1C ENST00000529563 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors USH1C HGNC ENSG00000006611 tier1 - - 50 0 0.00 27 11 28.95 82 0 0.00 53 40 43.01 CCDC122 0 genome.wustl.edu 37 13 44443482 44443482 + Missense_Mutation SNP C C G TCGA-IS-A3K6-01A-11D-A21Q-09 TCGA-IS-A3K6-10A-01D-A21Q-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq b9f8cfe2-7763-4819-9eba-216402df0178 bc5408cd-0b90-4d80-a68b-4c8ced85ff2a 13 44443482 44443482 C G SNP CCDC122 ENST00000281508 human ensembl 74_37 -1 known missense c.31 p.G11R 0.006 NULL NULL - no_errors CCDC122 HGNC ENSG00000151773 tier1 - - 48 0 0.00 34 16 32.00 107 0 0.00 62 47 43.12 SDR9C7 0 genome.wustl.edu 37 12 57327965 57327965 + Silent SNP G G A TCGA-IS-A3K6-01A-11D-A21Q-09 TCGA-IS-A3K6-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq b9f8cfe2-7763-4819-9eba-216402df0178 bc5408cd-0b90-4d80-a68b-4c8ced85ff2a 12 57327965 57327965 G A SNP SDR9C7 ENST00000293502 human ensembl 74_37 -1 known silent c.81 p.Y27 0.983 pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors SDR9C7 HGNC ENSG00000170426 tier1 - - 33 0 0.00 24 15 38.46 67 0 0.00 42 30 41.67 ARFGEF1 0 genome.wustl.edu 37 8 68115436 68115436 + Missense_Mutation SNP C C T TCGA-IS-A3K6-01A-11D-A21Q-09 TCGA-IS-A3K6-10A-01D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq b9f8cfe2-7763-4819-9eba-216402df0178 bc5408cd-0b90-4d80-a68b-4c8ced85ff2a 8 68115436 68115436 C T SNP ARFGEF1 ENST00000262215 human ensembl 74_37 -1 known missense c.5010 p.M1670I 1.000 NULL pfam_Sec7_dom,pfam_DUF1981_Sec7_assoc,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom - no_errors ARFGEF1 HGNC ENSG00000066777 tier1 - - 55 0 0.00 33 12 26.67 110 0 0.00 61 44 41.51 ZNF880 0 genome.wustl.edu 37 19 52888544 52888544 + Missense_Mutation SNP A A G TCGA-IS-A3K6-01A-11D-A21Q-09 TCGA-IS-A3K6-10A-01D-A21Q-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq b9f8cfe2-7763-4819-9eba-216402df0178 bc5408cd-0b90-4d80-a68b-4c8ced85ff2a 19 52888544 52888544 A G SNP ZNF880 ENST00000422689 human ensembl 74_37 +1 known missense c.1711 p.T571A 0.992 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 - no_errors ZNF880 HGNC ENSG00000221923 tier1 - - 30 0 0.00 16 15 48.39 85 0 0.00 54 29 34.94 BNC2 0 genome.wustl.edu 37 9 16738393 16738393 + Missense_Mutation SNP C C T TCGA-IS-A3K6-01A-11D-A21Q-09 TCGA-IS-A3K6-10A-01D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq b9f8cfe2-7763-4819-9eba-216402df0178 bc5408cd-0b90-4d80-a68b-4c8ced85ff2a 9 16738393 16738393 C T SNP BNC2 ENST00000380672 human ensembl 74_37 -1 known missense c.94 p.V32I 0.001 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BNC2 HGNC ENSG00000173068 tier1 - - 68 0 0.00 45 29 39.19 113 0 0.00 65 57 46.72 TJP2 0 genome.wustl.edu 37 9 71866189 71866189 + Missense_Mutation SNP C C T TCGA-IS-A3K6-01A-11D-A21Q-09 TCGA-IS-A3K6-10A-01D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq b9f8cfe2-7763-4819-9eba-216402df0178 bc5408cd-0b90-4d80-a68b-4c8ced85ff2a 9 71866189 71866189 C T SNP TJP2 ENST00000539225 human ensembl 74_37 +1 known missense c.3323 p.S1108L 1.000 NULL pfam_PDZ,pfam_GK/Ca_channel_bsu,pfam_SH3_2,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_PDZ,smart_GK/Ca_channel_bsu,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like,prints_ZonOcculS2,prints_ZonOcculdens - no_errors TJP2 HGNC ENSG00000119139 tier1 - - 32 0 0.00 18 11 37.93 78 0 0.00 44 48 52.17 CCNT1 0 genome.wustl.edu 37 12 49088156 49088156 + Nonsense_Mutation SNP G G A TCGA-IS-A3K6-01A-11D-A21Q-09 TCGA-IS-A3K6-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq b9f8cfe2-7763-4819-9eba-216402df0178 bc5408cd-0b90-4d80-a68b-4c8ced85ff2a 12 49088156 49088156 G A SNP CCNT1 ENST00000261900 human ensembl 74_37 -1 known nonsense c.841 p.Q281* 1.000 NULL pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNT1 HGNC ENSG00000129315 tier1 - - 71 0 0.00 51 17 24.64 100 0 0.00 73 25 25.51 LRRN2 0 genome.wustl.edu 37 1 204587896 204587896 + Missense_Mutation SNP G G A TCGA-IS-A3K6-01A-11D-A21Q-09 TCGA-IS-A3K6-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq b9f8cfe2-7763-4819-9eba-216402df0178 bc5408cd-0b90-4d80-a68b-4c8ced85ff2a 1 204587896 204587896 G A SNP LRRN2 ENST00000367175 human ensembl 74_37 -1 known missense c.1225 p.R409C 0.998 smart_Cys-rich_flank_reg_C pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRRN2 HGNC ENSG00000170382 tier1 rs141763834 - 68 0 0.00 21 27 56.25 19 0 0.00 13 8 38.10 CHD7 0 genome.wustl.edu 37 8 61763141 61763141 + Nonsense_Mutation SNP G G T TCGA-IS-A3K6-01A-11D-A21Q-09 TCGA-IS-A3K6-10A-01D-A21Q-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq b9f8cfe2-7763-4819-9eba-216402df0178 bc5408cd-0b90-4d80-a68b-4c8ced85ff2a 8 61763141 61763141 G T SNP CHD7 ENST00000423902 human ensembl 74_37 +1 known nonsense c.5494 p.E1832* 1.000 NULL pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD7 HGNC ENSG00000171316 tier1 - - 46 0 0.00 27 14 34.15 82 0 0.00 44 32 42.11 DH5 0 genome.wustl.edu 37 5 13882857 13882857 + Missense_Mutation SNP A A T TCGA-IS-A3K6-01A-11D-A21Q-09 TCGA-IS-A3K6-10A-01D-A21Q-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq b9f8cfe2-7763-4819-9eba-216402df0178 bc5408cd-0b90-4d80-a68b-4c8ced85ff2a 5 13882857 13882857 A T SNP DH5 ENST00000265104 human ensembl 74_37 -1 known missense c.3242 p.M1081K 0.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DH5 HGNC ENSG00000039139 tier1 - - 35 0 0.00 33 4 10.81 110 0 0.00 147 26 15.03 AP5S1 0 genome.wustl.edu 37 20 3802829 3802829 + Missense_Mutation SNP G G A TCGA-IS-A3K6-01A-11D-A21Q-09 TCGA-IS-A3K6-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq b9f8cfe2-7763-4819-9eba-216402df0178 bc5408cd-0b90-4d80-a68b-4c8ced85ff2a 20 3802829 3802829 G A SNP AP5S1 ENST00000246041 human ensembl 74_37 +1 known missense c.65 p.R22Q 1.000 NULL NULL - no_errors AP5S1 HGNC ENSG00000125843 tier1 - - 65 0 0.00 30 24 44.44 46 0 0.00 29 28 49.12 RBMXL2 0 genome.wustl.edu 37 11 7110543 7110543 + Silent SNP C C T TCGA-IS-A3K6-01A-11D-A21Q-09 TCGA-IS-A3K6-10A-01D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq b9f8cfe2-7763-4819-9eba-216402df0178 bc5408cd-0b90-4d80-a68b-4c8ced85ff2a 11 7110543 7110543 C T SNP RBMXL2 ENST00000306904 human ensembl 74_37 +1 known silent c.192 p.A64 1.000 pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,pfam_RBM1CTR,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom - no_errors RBMXL2 HGNC ENSG00000170748 tier1 - - 25 0 0.00 18 10 35.71 59 0 0.00 28 33 54.10 MAP3K19 0 genome.wustl.edu 37 2 135744087 135744087 + Frame_Shift_Del DEL G G - TCGA-IS-A3K6-01A-11D-A21Q-09 TCGA-IS-A3K6-10A-01D-A21Q-09 G G G - G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq b9f8cfe2-7763-4819-9eba-216402df0178 bc5408cd-0b90-4d80-a68b-4c8ced85ff2a 2 135744087 135744087 G - DEL MAP3K19 ENST00000375845 human ensembl 74_37 -1 known frame_shift_del c.2355 p.M786fs 0.000 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_Prot_kinase_dom - no_errors MAP3K19 HGNC ENSG00000176601 tier1 31 0 0.00 22 15 40.54 92 0 0.00 58 27 31.76 FCRL3 0 genome.wustl.edu 37 1 157667713 157667713 + R DEL C C - TCGA-IS-A3K6-01A-11D-A21Q-09 TCGA-IS-A3K6-10A-01D-A21Q-09 C C C - C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq b9f8cfe2-7763-4819-9eba-216402df0178 bc5408cd-0b90-4d80-a68b-4c8ced85ff2a 1 157667713 157667713 C - DEL FCRL3 ENST00000473231 human ensembl 74_37 -1 known rna NULL NULL 0.944 - - - no_errors FCRL3 HGNC ENSG00000160856 tier1 22 0 0.00 15 7 31.82 85 0 0.00 82 47 36.43 HIST1H4F 0 genome.wustl.edu 37 6 26240683 26240683 + Frame_Shift_Del DEL T T - TCGA-IS-A3K6-01A-11D-A21Q-09 TCGA-IS-A3K6-10A-01D-A21Q-09 T T T - T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq b9f8cfe2-7763-4819-9eba-216402df0178 bc5408cd-0b90-4d80-a68b-4c8ced85ff2a 6 26240683 26240683 T - DEL HIST1H4F ENST00000377745 human ensembl 74_37 +1 known frame_shift_del c.30 p.L11fs 0.071 superfamily_Histone-fold,prints_Histone_H4 pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4 - no_errors HIST1H4F HGNC ENSG00000198327 tier1 21 0 0.00 10 6 37.50 121 0 0.00 61 31 33.70 ENSG00000273199 0 genome.wustl.edu 37 21 37692480 37692480 + R SNP T T A TCGA-IS-A3K6-01A-11D-A21Q-09 TCGA-IS-A3K6-10A-01D-A21Q-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq b9f8cfe2-7763-4819-9eba-216402df0178 bc5408cd-0b90-4d80-a68b-4c8ced85ff2a 21 37692480 37692480 T A SNP ENSG00000273199 ENST00000608391 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AP000692.10 Clone_based_vega_gene ENSG00000273199 tier1 - - 8 0 0.00 14 6 30.00 11 0 0.00 5 4 44.44 LHPP 0 genome.wustl.edu 37 10 126185567 126185567 + Missense_Mutation SNP G G A TCGA-IS-A3K6-01A-11D-A21Q-09 TCGA-IS-A3K6-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq b9f8cfe2-7763-4819-9eba-216402df0178 bc5408cd-0b90-4d80-a68b-4c8ced85ff2a 10 126185567 126185567 G A SNP LHPP ENST00000368842 human ensembl 74_37 +1 known missense c.505 p.V169I 1.000 pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IIA_hyp2,tigrfam_HAD-SF_hydro_IIA pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IIA_hyp2,tigrfam_HAD-SF_hydro_IIA - no_errors LHPP HGNC ENSG00000107902 tier1 - - 55 0 0.00 7 26 78.79 79 0 0.00 9 45 83.33 GOLGA4 0 genome.wustl.edu 37 3 37360696 37360697 + R INS - - T TCGA-IS-A3K6-01A-11D-A21Q-09 TCGA-IS-A3K6-10A-01D-A21Q-09 - - - T - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq b9f8cfe2-7763-4819-9eba-216402df0178 bc5408cd-0b90-4d80-a68b-4c8ced85ff2a 3 37360696 37360697 - T INS GOLGA4 ENST00000435830 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.005 - - - no_errors GOLGA4 HGNC ENSG00000144674 tier1 18 0 0.00 14 2 12.50 75 1 1.32 69 5 6.76 HLA-DOB 0 genome.wustl.edu 37 6 32782136 32782136 + Missense_Mutation SNP C C A TCGA-IS-A3K6-01A-11D-A21Q-09 TCGA-IS-A3K6-10A-01D-A21Q-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq b9f8cfe2-7763-4819-9eba-216402df0178 bc5408cd-0b90-4d80-a68b-4c8ced85ff2a 6 32782136 32782136 C A SNP HLA-DOB ENST00000438763 human ensembl 74_37 -1 known missense c.604 p.D202Y 0.051 pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom pfam_MHC_II_b_N,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors HLA-DOB HGNC ENSG00000241106 tier1 - - 73 0 0.00 33 19 36.54 118 2 1.67 57 45 44.12 RGS7BP 0 genome.wustl.edu 37 5 63802483 63802483 + Missense_Mutation SNP G G A TCGA-IS-A3K6-01A-11D-A21Q-09 TCGA-IS-A3K6-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq b9f8cfe2-7763-4819-9eba-216402df0178 bc5408cd-0b90-4d80-a68b-4c8ced85ff2a 5 63802483 63802483 G A SNP RGS7BP ENST00000334025 human ensembl 74_37 +1 known missense c.32 p.R11H 1.000 NULL NULL - no_errors RGS7BP HGNC ENSG00000186479 tier1 - - 32 0 0.00 14 12 42.86 26 0 0.00 12 17 58.62 FGF9 0 genome.wustl.edu 37 13 22275847 22275848 + R DEL TA TA - TCGA-IS-A3K6-01A-11D-A21Q-09 TCGA-IS-A3K6-10A-01D-A21Q-09 TA TA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9f8cfe2-7763-4819-9eba-216402df0178 bc5408cd-0b90-4d80-a68b-4c8ced85ff2a 13 22275847 22275848 TA - DEL FGF9 ENST00000478546 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.004 - - - no_errors FGF9 HGNC ENSG00000102678 tier1 44 0 0.00 26 4 13.33 0 0 0.00 0 0 0.00 LOC100129138 0 genome.wustl.edu 37 1 104616114 104616114 + R SNP G G T TCGA-IS-A3K6-01A-11D-A21Q-09 TCGA-IS-A3K6-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9f8cfe2-7763-4819-9eba-216402df0178 bc5408cd-0b90-4d80-a68b-4c8ced85ff2a 1 104616114 104616114 G T SNP LOC100129138 ENST00000418362 human ensembl 74_37 +1 known rna NULL NULL 0.034 - - - no_errors RP11-364B6.1 Clone_based_vega_gene ENSG00000215869 tier1 - - 18 0 0.00 11 9 45.00 0 0 0.00 0 0 0.00 SIK1 0 genome.wustl.edu 37 21 44836772 44836772 + Silent SNP A A T TCGA-IS-A3K6-01A-11D-A21Q-09 TCGA-IS-A3K6-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9f8cfe2-7763-4819-9eba-216402df0178 bc5408cd-0b90-4d80-a68b-4c8ced85ff2a 21 44836772 44836772 A T SNP SIK1 ENST00000270162 human ensembl 74_37 -1 known silent c.2202 p.I734 1.000 pirsf_Ser/Thr_kinase_SIK1/2 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,pirsf_Ser/Thr_kinase_SIK1/2,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors SIK1 HGNC ENSG00000142178 tier1 - - 16 0 0.00 9 4 30.77 0 0 0.00 2 0 0.00 KRTAP5-10 0 genome.wustl.edu 37 11 71276808 71276808 + Missense_Mutation SNP T T C TCGA-IS-A3K6-01A-11D-A21Q-09 TCGA-IS-A3K6-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b9f8cfe2-7763-4819-9eba-216402df0178 bc5408cd-0b90-4d80-a68b-4c8ced85ff2a 11 71276808 71276808 T C SNP KRTAP5-10 ENST00000398531 human ensembl 74_37 +1 known missense c.175 p.C59R 0.396 NULL NULL - no_errors KRTAP5-10 HGNC ENSG00000204572 tier1 - - 97 0 0.00 53 38 41.76 0 0 0.00 0 2 100.00