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 ARSK 0 genome.wustl.edu 37 5 94927274 94927274 + Silent SNP C C T TCGA-3B-A9HV-01A-11D-A38Z-09 TCGA-3B-A9HV-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6e3a9307-4a27-4bd1-8c70-7dca0b907ebc c7eb9676-9cbf-4977-8a8e-8eaaf7d01533 5 94927274 94927274 C T SNP ARSK ENST00000380009 human ensembl 74_37 +1 known silent c.1041 p.A347 0.970 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors ARSK HGNC ENSG00000164291 tier1 rs140272875 - 57 0 0.00 50 30 37.50 83 0 0.00 89 70 44.03 TTC40 0 genome.wustl.edu 37 10 134663926 134663926 + Missense_Mutation SNP G G A TCGA-3B-A9HV-01A-11D-A38Z-09 TCGA-3B-A9HV-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6e3a9307-4a27-4bd1-8c70-7dca0b907ebc c7eb9676-9cbf-4977-8a8e-8eaaf7d01533 10 134663926 134663926 G A SNP TTC40 ENST00000263170 human ensembl 74_37 -1 known missense c.257 p.T86M 0.001 NULL NULL - no_errors TTC40 HGNC ENSG00000171811 tier1 - - 152 0 0.00 41 37 47.44 81 0 0.00 29 23 44.23 ETV5 0 genome.wustl.edu 37 3 185823486 185823486 + Nonsense_Mutation SNP C C A TCGA-3B-A9HV-01A-11D-A38Z-09 TCGA-3B-A9HV-10A-01D-A38Z-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6e3a9307-4a27-4bd1-8c70-7dca0b907ebc c7eb9676-9cbf-4977-8a8e-8eaaf7d01533 3 185823486 185823486 C A SNP ETV5 ENST00000537818 human ensembl 74_37 -1 known nonsense c.187 p.E63* 1.000 pfam_ETS_PEA3_N pfam_ETS_PEA3_N,pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ETV5 HGNC ENSG00000244405 tier1 - - 91 0 0.00 46 41 47.13 103 0 0.00 36 59 62.11 RP1 0 genome.wustl.edu 37 8 55539286 55539286 + Missense_Mutation SNP C C A TCGA-3B-A9HV-01A-11D-A38Z-09 TCGA-3B-A9HV-10A-01D-A38Z-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6e3a9307-4a27-4bd1-8c70-7dca0b907ebc c7eb9676-9cbf-4977-8a8e-8eaaf7d01533 8 55539286 55539286 C A SNP RP1 ENST00000220676 human ensembl 74_37 +1 known missense c.2844 p.S948R 0.000 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1 HGNC ENSG00000104237 tier1 - - 93 0 0.00 51 44 46.32 106 0 0.00 74 41 35.65 TBCB 0 genome.wustl.edu 37 19 36606551 36606551 + Missense_Mutation SNP G G A TCGA-3B-A9HV-01A-11D-A38Z-09 TCGA-3B-A9HV-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6e3a9307-4a27-4bd1-8c70-7dca0b907ebc c7eb9676-9cbf-4977-8a8e-8eaaf7d01533 19 36606551 36606551 G A SNP TBCB ENST00000221855 human ensembl 74_37 +1 known missense c.89 p.R30H 1.000 NULL pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain - no_errors TBCB HGNC ENSG00000105254 tier1 - - 72 0 0.00 17 12 41.38 25 0 0.00 13 9 40.91 GRIA1 0 genome.wustl.edu 37 5 152873493 152873493 + Missense_Mutation SNP T T G TCGA-3B-A9HV-01A-11D-A38Z-09 TCGA-3B-A9HV-10A-01D-A38Z-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6e3a9307-4a27-4bd1-8c70-7dca0b907ebc c7eb9676-9cbf-4977-8a8e-8eaaf7d01533 5 152873493 152873493 T G SNP GRIA1 ENST00000448073 human ensembl 74_37 +1 known missense c.118 p.L40V 1.000 NULL pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIA1 HGNC ENSG00000155511 tier1 - - 26 0 0.00 44 9 16.98 35 0 0.00 43 12 21.82 ZNF630 0 genome.wustl.edu 37 X 47920220 47920220 + Silent SNP G G T TCGA-3B-A9HV-01A-11D-A38Z-09 TCGA-3B-A9HV-10A-01D-A38Z-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6e3a9307-4a27-4bd1-8c70-7dca0b907ebc c7eb9676-9cbf-4977-8a8e-8eaaf7d01533 X 47920220 47920220 G T SNP ZNF630 ENST00000409324 human ensembl 74_37 -1 known silent c.120 p.T40 0.052 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 - no_errors ZNF630 HGNC ENSG00000221994 tier1 - - 43 0 0.00 34 20 37.04 45 0 0.00 44 26 37.14 OC90 0 genome.wustl.edu 37 8 133045354 133045354 + Missense_Mutation SNP G G A TCGA-3B-A9HV-01A-11D-A38Z-09 TCGA-3B-A9HV-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6e3a9307-4a27-4bd1-8c70-7dca0b907ebc c7eb9676-9cbf-4977-8a8e-8eaaf7d01533 8 133045354 133045354 G A SNP OC90 ENST00000443356 human ensembl 74_37 -1 known missense c.839 p.A280V 0.001 NULL pfam_PLipase_A2_dom,superfamily_PLipase_A2_dom,smart_PLipase_A2_dom,prints_PLipase_A2 - no_errors OC90 Uniprot_gn ENSG00000258417 tier1 - - 16 0 0.00 17 14 45.16 22 0 0.00 28 16 36.36 FCRL2 0 genome.wustl.edu 37 1 157738333 157738333 + Missense_Mutation SNP T T A TCGA-3B-A9HV-01A-11D-A38Z-09 TCGA-3B-A9HV-10A-01D-A38Z-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6e3a9307-4a27-4bd1-8c70-7dca0b907ebc c7eb9676-9cbf-4977-8a8e-8eaaf7d01533 1 157738333 157738333 T A SNP FCRL2 ENST00000361516 human ensembl 74_37 -1 known missense c.754 p.T252S 0.002 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCRL2 HGNC ENSG00000132704 tier1 - - 43 0 0.00 24 19 44.19 50 0 0.00 46 40 46.51 SDK1 0 genome.wustl.edu 37 7 3681652 3681652 + Missense_Mutation SNP C C A TCGA-3B-A9HV-01A-11D-A38Z-09 TCGA-3B-A9HV-10A-01D-A38Z-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6e3a9307-4a27-4bd1-8c70-7dca0b907ebc c7eb9676-9cbf-4977-8a8e-8eaaf7d01533 7 3681652 3681652 C A SNP SDK1 ENST00000404826 human ensembl 74_37 +1 known missense c.628 p.L210I 0.967 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors SDK1 HGNC ENSG00000146555 tier1 - - 89 0 0.00 60 13 17.81 111 0 0.00 76 19 20.00 ASPN 0 genome.wustl.edu 37 9 95237014 95237014 + Missense_Mutation SNP G G A TCGA-3B-A9HV-01A-11D-A38Z-09 TCGA-3B-A9HV-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6e3a9307-4a27-4bd1-8c70-7dca0b907ebc c7eb9676-9cbf-4977-8a8e-8eaaf7d01533 9 95237014 95237014 G A SNP ASPN ENST00000375544 human ensembl 74_37 -1 known missense c.166 p.L56F 1.000 pirsf_SLRP_I_decor/aspor/byglycan pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,pirsf_SLRP_I_decor/aspor/byglycan - no_errors ASPN HGNC ENSG00000106819 tier1 - - 30 0 0.00 18 15 45.45 29 0 0.00 18 17 47.22 UBE3C 0 genome.wustl.edu 37 7 157000591 157000591 + Missense_Mutation SNP A A C TCGA-3B-A9HV-01A-11D-A38Z-09 TCGA-3B-A9HV-10A-01D-A38Z-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6e3a9307-4a27-4bd1-8c70-7dca0b907ebc c7eb9676-9cbf-4977-8a8e-8eaaf7d01533 7 157000591 157000591 A C SNP UBE3C ENST00000348165 human ensembl 74_37 +1 known missense c.1771 p.I591L 1.000 NULL pfam_HECT,superfamily_HECT,superfamily_DHFR-like_dom,smart_IQ_motif_EF-hand-BS,smart_HECT,pfscan_HECT,pfscan_IQ_motif_EF-hand-BS - no_errors UBE3C HGNC ENSG00000009335 tier1 - - 17 0 0.00 11 6 35.29 32 0 0.00 21 16 43.24 TBC1D5 0 genome.wustl.edu 37 3 17208291 17208291 + Missense_Mutation SNP G G T TCGA-3B-A9HV-01A-11D-A38Z-09 TCGA-3B-A9HV-10A-01D-A38Z-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6e3a9307-4a27-4bd1-8c70-7dca0b907ebc c7eb9676-9cbf-4977-8a8e-8eaaf7d01533 3 17208291 17208291 G T SNP TBC1D5 ENST00000253692 human ensembl 74_37 -1 known missense c.2062 p.Q688K 0.001 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D5 HGNC ENSG00000131374 tier1 - - 59 0 0.00 51 11 17.74 27 0 0.00 41 7 14.58 TP53 0 genome.wustl.edu 37 17 7578268 7578268 + Missense_Mutation SNP A A C TCGA-3B-A9HV-01A-11D-A38Z-09 TCGA-3B-A9HV-10A-01D-A38Z-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6e3a9307-4a27-4bd1-8c70-7dca0b907ebc c7eb9676-9cbf-4977-8a8e-8eaaf7d01533 17 7578268 7578268 A C SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.581 p.L194R 0.996 pfam_p53_D-bd,superfamily_p53-like_TF_D-bd 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 - - 89 0 0.00 43 37 46.25 141 0 0.00 56 49 46.67 ZFAS1 0 genome.wustl.edu 37 20 47895195 47895195 + R SNP G G T TCGA-3B-A9HV-01A-11D-A38Z-09 TCGA-3B-A9HV-10A-01D-A38Z-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6e3a9307-4a27-4bd1-8c70-7dca0b907ebc c7eb9676-9cbf-4977-8a8e-8eaaf7d01533 20 47895195 47895195 G T SNP ZFAS1 ENST00000326677 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ZFAS1 HGNC ENSG00000177410 tier1 - - 57 0 0.00 26 17 39.53 104 1 0.95 38 39 50.65 NTRK1 0 genome.wustl.edu 37 1 156843634 156843634 + Missense_Mutation SNP G G A TCGA-3B-A9HV-01A-11D-A38Z-09 TCGA-3B-A9HV-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6e3a9307-4a27-4bd1-8c70-7dca0b907ebc c7eb9676-9cbf-4977-8a8e-8eaaf7d01533 1 156843634 156843634 G A SNP NTRK1 ENST00000524377 human ensembl 74_37 +1 known missense c.1060 p.V354I 1.000 prints_Tyr_kinase_NGF_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Cys-rich_flank_reg_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_neurotrophic_rcpt_1,prints_Tyr_kinase_NGF_rcpt - no_errors NTRK1 HGNC ENSG00000198400 tier1 rs201035170 GMAF=0 144 0 0.00 33 26 44.07 95 0 0.00 36 37 50.00 SHISA3 0 genome.wustl.edu 37 4 42403180 42403180 + Silent SNP A A C TCGA-3B-A9HV-01A-11D-A38Z-09 TCGA-3B-A9HV-10A-01D-A38Z-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6e3a9307-4a27-4bd1-8c70-7dca0b907ebc c7eb9676-9cbf-4977-8a8e-8eaaf7d01533 4 42403180 42403180 A C SNP SHISA3 ENST00000319234 human ensembl 74_37 +1 known silent c.429 p.T143 0.574 NULL NULL - no_errors SHISA3 HGNC ENSG00000178343 tier1 - - 50 0 0.00 38 6 13.64 77 0 0.00 52 14 21.21 ACSF3 0 genome.wustl.edu 37 16 89187269 89187269 + Missense_Mutation SNP G G A TCGA-3B-A9HV-01A-11D-A38Z-09 TCGA-3B-A9HV-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6e3a9307-4a27-4bd1-8c70-7dca0b907ebc c7eb9676-9cbf-4977-8a8e-8eaaf7d01533 16 89187269 89187269 G A SNP ACSF3 ENST00000317447 human ensembl 74_37 +1 known missense c.1187 p.R396K 0.004 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSF3 HGNC ENSG00000176715 tier1 - - 90 0 0.00 33 21 38.89 99 0 0.00 80 31 27.93 TP53 0 genome.wustl.edu 37 17 7578177 7578177 + Missense_Mutation SNP C C A TCGA-3B-A9HV-01A-11D-A38Z-09 TCGA-3B-A9HV-10A-01D-A38Z-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6e3a9307-4a27-4bd1-8c70-7dca0b907ebc c7eb9676-9cbf-4977-8a8e-8eaaf7d01533 17 7578177 7578177 C A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.672 p.E224D 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 - - 93 0 0.00 56 37 39.78 136 0 0.00 59 55 48.25 UGT3A1 0 genome.wustl.edu 37 5 35957294 35957294 + Silent SNP G G C TCGA-3B-A9HV-01A-11D-A38Z-09 TCGA-3B-A9HV-10A-01D-A38Z-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6e3a9307-4a27-4bd1-8c70-7dca0b907ebc c7eb9676-9cbf-4977-8a8e-8eaaf7d01533 5 35957294 35957294 G C SNP UGT3A1 ENST00000274278 human ensembl 74_37 -1 known silent c.1071 p.L357 0.917 pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT3A1 HGNC ENSG00000145626 tier1 - - 48 0 0.00 32 18 36.00 56 0 0.00 45 35 43.21 TIAM1 0 genome.wustl.edu 37 21 32638611 32638611 + Missense_Mutation SNP A A C TCGA-3B-A9HV-01A-11D-A38Z-09 TCGA-3B-A9HV-10A-01D-A38Z-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6e3a9307-4a27-4bd1-8c70-7dca0b907ebc c7eb9676-9cbf-4977-8a8e-8eaaf7d01533 21 32638611 32638611 A C SNP TIAM1 ENST00000286827 human ensembl 74_37 -1 known missense c.678 p.C226W 0.997 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Raf-like_ras-bd,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain - no_errors TIAM1 HGNC ENSG00000156299 tier1 - - 20 0 0.00 12 5 29.41 43 0 0.00 31 14 31.11 C14orf119 0 genome.wustl.edu 37 14 23567055 23567055 + Missense_Mutation SNP C C G TCGA-3B-A9HV-01A-11D-A38Z-09 TCGA-3B-A9HV-10A-01D-A38Z-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6e3a9307-4a27-4bd1-8c70-7dca0b907ebc c7eb9676-9cbf-4977-8a8e-8eaaf7d01533 14 23567055 23567055 C G SNP C14orf119 ENST00000319074 human ensembl 74_37 +1 known missense c.188 p.A63G 0.937 NULL NULL - no_errors C14orf119 HGNC ENSG00000179933 tier1 - - 22 0 0.00 23 26 53.06 79 0 0.00 61 52 45.61 ALOX12 0 genome.wustl.edu 37 17 6913399 6913399 + Missense_Mutation SNP T T A TCGA-3B-A9HV-01A-11D-A38Z-09 TCGA-3B-A9HV-10A-01D-A38Z-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6e3a9307-4a27-4bd1-8c70-7dca0b907ebc c7eb9676-9cbf-4977-8a8e-8eaaf7d01533 17 6913399 6913399 T A SNP ALOX12 ENST00000251535 human ensembl 74_37 +1 known missense c.1766 p.L589H 1.000 pfam_LipOase_C,superfamily_LipOase_C,prints_LipOase_mml pfam_LipOase_C,pfam_PLAT/LH2_dom,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,prints_LipOase_mml,prints_LipOase_C - no_errors ALOX12 HGNC ENSG00000108839 tier1 - - 30 0 0.00 14 13 48.15 41 0 0.00 24 20 43.48 FLJ46361 0 genome.wustl.edu 37 10 124558336 124558336 + R SNP G G A TCGA-3B-A9HV-01A-11D-A38Z-09 TCGA-3B-A9HV-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6e3a9307-4a27-4bd1-8c70-7dca0b907ebc c7eb9676-9cbf-4977-8a8e-8eaaf7d01533 10 124558336 124558336 G A SNP FLJ46361 ENST00000605982 human ensembl 74_37 +1 known rna NULL NULL 0.982 - - - no_errors RP11-318C4.2 Clone_based_vega_gene ENSG00000176584 tier1 rs181772888 GMAF=0.0005 44 0 0.00 39 9 18.75 85 0 0.00 73 30 29.13 SDK1 0 genome.wustl.edu 37 7 3681632 3681632 + Missense_Mutation SNP C C T TCGA-3B-A9HV-01A-11D-A38Z-09 TCGA-3B-A9HV-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6e3a9307-4a27-4bd1-8c70-7dca0b907ebc c7eb9676-9cbf-4977-8a8e-8eaaf7d01533 7 3681632 3681632 C T SNP SDK1 ENST00000404826 human ensembl 74_37 +1 known missense c.608 p.S203F 0.613 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors SDK1 HGNC ENSG00000146555 tier1 - - 86 0 0.00 57 16 21.92 116 0 0.00 83 20 19.42 RG2 0 genome.wustl.edu 37 15 60741046 60741046 + Splice_Site SNP C C T TCGA-3B-A9HV-01A-11D-A38Z-09 TCGA-3B-A9HV-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6e3a9307-4a27-4bd1-8c70-7dca0b907ebc c7eb9676-9cbf-4977-8a8e-8eaaf7d01533 15 60741046 60741046 C T SNP RG2 ENST00000261520 human ensembl 74_37 -1 known splice_site c.2119+1 e9+1 1.000 - - - no_errors RG2 HGNC ENSG00000128915 tier1 - - 69 0 0.00 47 16 25.40 59 0 0.00 30 22 42.31 COL11A2 0 genome.wustl.edu 37 6 33145927 33145927 + Silent SNP A A T TCGA-3B-A9HV-01A-11D-A38Z-09 TCGA-3B-A9HV-10A-01D-A38Z-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6e3a9307-4a27-4bd1-8c70-7dca0b907ebc c7eb9676-9cbf-4977-8a8e-8eaaf7d01533 6 33145927 33145927 A T SNP COL11A2 ENST00000341947 human ensembl 74_37 -1 known silent c.1854 p.P618 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL11A2 HGNC ENSG00000204248 tier1 - - 72 0 0.00 49 15 23.44 59 0 0.00 80 28 25.93 PREX1 0 genome.wustl.edu 37 20 47274767 47274767 + Splice_Site SNP C C A TCGA-3B-A9HV-01A-11D-A38Z-09 TCGA-3B-A9HV-10A-01D-A38Z-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6e3a9307-4a27-4bd1-8c70-7dca0b907ebc c7eb9676-9cbf-4977-8a8e-8eaaf7d01533 20 47274767 47274767 C A SNP PREX1 ENST00000371941 human ensembl 74_37 -1 known splice_site c.1882-1 e17-1 1.000 - - - no_errors PREX1 HGNC ENSG00000124126 tier1 - - 38 0 0.00 28 4 12.50 81 0 0.00 53 10 15.87 NBEAL1 0 genome.wustl.edu 37 2 203880879 203880882 + R DEL ATTT ATTT - TCGA-3B-A9HV-01A-11D-A38Z-09 TCGA-3B-A9HV-10A-01D-A38Z-09 ATTT ATTT ATTT - ATTT ATTT Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6e3a9307-4a27-4bd1-8c70-7dca0b907ebc c7eb9676-9cbf-4977-8a8e-8eaaf7d01533 2 203880879 203880882 ATTT - DEL NBEAL1 ENST00000478884 human ensembl 74_37 +1 known rna NULL NULL 0.540:0.499:0.269:0.151 - - - no_errors NBEAL1 HGNC ENSG00000144426 tier1 18 0 0.00 10 6 37.50 121 0 0.00 40 12 23.08 ZNF48 0 genome.wustl.edu 37 16 30410334 30410339 + In_Frame_Del DEL AGCACC AGCACC - TCGA-3B-A9HV-01A-11D-A38Z-09 TCGA-3B-A9HV-10A-01D-A38Z-09 AGCACC AGCACC AGCACC - AGCACC AGCACC Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6e3a9307-4a27-4bd1-8c70-7dca0b907ebc c7eb9676-9cbf-4977-8a8e-8eaaf7d01533 16 30410334 30410339 AGCACC - DEL ZNF48 ENST00000320159 human ensembl 74_37 +1 known in_frame_del c.1763_1768 p.HQ589in_frame_del 1.000:1.000:1.000:1.000:1.000:1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF48 HGNC ENSG00000180035 tier1 104 0 0.00 49 28 36.36 104 0 0.00 49 28 36.36 ADAD1 0 genome.wustl.edu 37 4 123336640 123336643 + Frame_Shift_Del DEL TCAT TCAT - TCGA-3B-A9HV-01A-11D-A38Z-09 TCGA-3B-A9HV-10A-01D-A38Z-09 TCAT TCAT TCAT - TCAT TCAT Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6e3a9307-4a27-4bd1-8c70-7dca0b907ebc c7eb9676-9cbf-4977-8a8e-8eaaf7d01533 4 123336640 123336643 TCAT - DEL ADAD1 ENST00000296513 human ensembl 74_37 +1 known frame_shift_del c.1356_1359 p.H453fs 0.990:0.786:0.774:0.473 pfam_A_deamin,smart_A_deamin,pfscan_A_deamin pfam_A_deamin,pfam_dsR-bd_dom,smart_dsR-bd_dom,smart_A_deamin,pfscan_dsR-bd_dom,pfscan_A_deamin - no_errors ADAD1 HGNC ENSG00000164113 tier1 62 0 0.00 40 28 41.18 55 0 0.00 46 18 28.12 HIST1H1C 0 genome.wustl.edu 37 6 26056568 26056568 + Frame_Shift_Del DEL C C - TCGA-3B-A9HV-01A-11D-A38Z-09 TCGA-3B-A9HV-10A-01D-A38Z-09 C C C - C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6e3a9307-4a27-4bd1-8c70-7dca0b907ebc c7eb9676-9cbf-4977-8a8e-8eaaf7d01533 6 26056568 26056568 C - DEL HIST1H1C ENST00000343677 human ensembl 74_37 -1 known frame_shift_del c.89 p.G30fs 0.993 prints_Histone_H5 pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5 - no_errors HIST1H1C HGNC ENSG00000187837 tier1 108 0 0.00 59 49 45.37 33 0 0.00 22 27 55.10 ADAM7 0 genome.wustl.edu 37 8 24339813 24339813 + Silent SNP T T C TCGA-3B-A9HV-01A-11D-A38Z-09 TCGA-3B-A9HV-10A-01D-A38Z-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6e3a9307-4a27-4bd1-8c70-7dca0b907ebc c7eb9676-9cbf-4977-8a8e-8eaaf7d01533 8 24339813 24339813 T C SNP ADAM7 ENST00000175238 human ensembl 74_37 +1 known silent c.864 p.V288 0.003 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM7 HGNC ENSG00000069206 tier1 - - 61 0 0.00 4 50 92.59 43 0 0.00 3 42 93.33 DH2 0 genome.wustl.edu 37 17 7727575 7727575 + Missense_Mutation SNP G G A TCGA-3B-A9HV-01A-11D-A38Z-09 TCGA-3B-A9HV-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6e3a9307-4a27-4bd1-8c70-7dca0b907ebc c7eb9676-9cbf-4977-8a8e-8eaaf7d01533 17 7727575 7727575 G A SNP DH2 ENST00000389173 human ensembl 74_37 +1 known missense c.11615 p.G3872D 1.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DH2 HGNC ENSG00000183914 tier1 - - 27 0 0.00 11 5 31.25 11 0 0.00 4 3 42.86 FOXN3 0 genome.wustl.edu 37 14 89878531 89878531 + Missense_Mutation SNP G G A TCGA-3B-A9HV-01A-11D-A38Z-09 TCGA-3B-A9HV-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6e3a9307-4a27-4bd1-8c70-7dca0b907ebc c7eb9676-9cbf-4977-8a8e-8eaaf7d01533 14 89878531 89878531 G A SNP FOXN3 ENST00000261302 human ensembl 74_37 -1 known missense c.290 p.S97F 0.998 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXN3 HGNC ENSG00000053254 tier1 - - 25 0 0.00 2 7 77.78 10 0 0.00 0 13 100.00 HLA-V 0 genome.wustl.edu 37 6 29760667 29760667 + R SNP G G T TCGA-3B-A9HV-01A-11D-A38Z-09 TCGA-3B-A9HV-10A-01D-A38Z-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6e3a9307-4a27-4bd1-8c70-7dca0b907ebc c7eb9676-9cbf-4977-8a8e-8eaaf7d01533 6 29760667 29760667 G T SNP HLA-V ENST00000446817 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors HLA-V HGNC ENSG00000181126 tier1 - - 14 0 0.00 2 6 75.00 34 0 0.00 7 19 73.08 TIMM44 0 genome.wustl.edu 37 19 7998995 7998995 + Silent SNP C C T TCGA-3B-A9HV-01A-11D-A38Z-09 TCGA-3B-A9HV-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6e3a9307-4a27-4bd1-8c70-7dca0b907ebc c7eb9676-9cbf-4977-8a8e-8eaaf7d01533 19 7998995 7998995 C T SNP TIMM44 ENST00000270538 human ensembl 74_37 -1 known silent c.522 p.A174 0.004 pirsf_Tim44,tigrfam_Tim44 pfam_Tim44-like_dom,smart_Tim44-like_dom,pirsf_Tim44,tigrfam_Tim44 - no_errors TIMM44 HGNC ENSG00000104980 tier1 - - 68 0 0.00 13 13 50.00 26 0 0.00 5 5 50.00 ZFX 0 genome.wustl.edu 37 X 24227114 24227114 + Missense_Mutation SNP A A C TCGA-3B-A9HV-01A-11D-A38Z-09 TCGA-3B-A9HV-10A-01D-A38Z-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6e3a9307-4a27-4bd1-8c70-7dca0b907ebc c7eb9676-9cbf-4977-8a8e-8eaaf7d01533 X 24227114 24227114 A C SNP ZFX ENST00000540034 human ensembl 74_37 +1 known missense c.1308 p.K436N 1.000 pfam_Transcrp_activ_Zfx/Zfy-dom pfam_Transcrp_activ_Zfx/Zfy-dom,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFX HGNC ENSG00000005889 tier1 - - 80 0 0.00 46 42 47.73 8 0 0.00 7 5 41.67 AMPD1 0 genome.wustl.edu 37 1 115215870 115215870 + Silent SNP G G A TCGA-3B-A9HV-01A-11D-A38Z-09 TCGA-3B-A9HV-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6e3a9307-4a27-4bd1-8c70-7dca0b907ebc c7eb9676-9cbf-4977-8a8e-8eaaf7d01533 1 115215870 115215870 G A SNP AMPD1 ENST00000520113 human ensembl 74_37 -1 known silent c.2208 p.D736 0.000 pirsf_AMP_deaminase,tigrfam_AMP_deaminase pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase - no_errors AMPD1 HGNC ENSG00000116748 tier1 - - 72 0 0.00 75 7 8.54 120 0 0.00 96 6 5.88 CRELD2 0 genome.wustl.edu 37 22 50315953 50315953 + Missense_Mutation SNP G G A TCGA-3B-A9HV-01A-11D-A38Z-09 TCGA-3B-A9HV-10A-01D-A38Z-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6e3a9307-4a27-4bd1-8c70-7dca0b907ebc c7eb9676-9cbf-4977-8a8e-8eaaf7d01533 22 50315953 50315953 G A SNP CRELD2 ENST00000404488 human ensembl 74_37 +1 known missense c.601 p.G201S 0.000 superfamily_Growth_fac_rcpt_N_dom pfam_DUF3456,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_Furin_repeat,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors CRELD2 HGNC ENSG00000184164 tier1 - - 71 0 0.00 51 19 27.14 102 0 0.00 80 4 4.76 GPR111 0 genome.wustl.edu 37 6 47650127 47650127 + Missense_Mutation SNP C C A TCGA-3B-A9HV-01A-11D-A38Z-09 TCGA-3B-A9HV-10A-01D-A38Z-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6e3a9307-4a27-4bd1-8c70-7dca0b907ebc c7eb9676-9cbf-4977-8a8e-8eaaf7d01533 6 47650127 47650127 C A SNP GPR111 ENST00000296862 human ensembl 74_37 +1 known missense c.1832 p.A611D 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR111 HGNC ENSG00000164393 tier1 rs199531842 - 14 0 0.00 33 7 17.50 56 0 0.00 93 4 4.12 WIF1 0 genome.wustl.edu 37 12 65471568 65471568 + Missense_Mutation SNP C C T TCGA-3B-A9HV-01A-11D-A38Z-09 TCGA-3B-A9HV-10A-01D-A38Z-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6e3a9307-4a27-4bd1-8c70-7dca0b907ebc c7eb9676-9cbf-4977-8a8e-8eaaf7d01533 12 65471568 65471568 C T SNP WIF1 ENST00000286574 human ensembl 74_37 -1 known missense c.355 p.V119I 0.956 pfam_WIF,smart_WIF,pfscan_WIF,prints_Wnt-inh pfam_WIF,pfam_EGF_extracell,smart_WIF,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_WIF,prints_Wnt-inh - no_errors WIF1 HGNC ENSG00000156076 tier1 - - 16 0 0.00 37 29 43.94 33 1 2.94 52 62 53.91 AP3B2 0 genome.wustl.edu 37 15 83349336 83349336 + Missense_Mutation SNP T T C TCGA-3B-A9HV-01A-11D-A38Z-09 TCGA-3B-A9HV-10A-01D-A38Z-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e3a9307-4a27-4bd1-8c70-7dca0b907ebc c7eb9676-9cbf-4977-8a8e-8eaaf7d01533 15 83349336 83349336 T C SNP AP3B2 ENST00000261722 human ensembl 74_37 -1 known missense c.943 p.S315G 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_beta pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,pirsf_AP3_beta - no_errors AP3B2 HGNC ENSG00000103723 tier1 - - 41 0 0.00 6 3 33.33 10 0 0.00 7 0 0.00 TTC40 0 genome.wustl.edu 37 10 134660691 134660691 + Silent SNP C C T TCGA-3B-A9HV-01A-11D-A38Z-09 TCGA-3B-A9HV-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e3a9307-4a27-4bd1-8c70-7dca0b907ebc c7eb9676-9cbf-4977-8a8e-8eaaf7d01533 10 134660691 134660691 C T SNP TTC40 ENST00000263170 human ensembl 74_37 -1 known silent c.570 p.K190 0.997 NULL NULL - no_errors TTC40 HGNC ENSG00000171811 tier1 - - 95 0 0.00 39 6 13.33 5 0 0.00 2 0 0.00 PLIN1 0 genome.wustl.edu 37 15 90208828 90208828 + Missense_Mutation SNP G G T TCGA-3B-A9HV-01A-11D-A38Z-09 TCGA-3B-A9HV-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e3a9307-4a27-4bd1-8c70-7dca0b907ebc c7eb9676-9cbf-4977-8a8e-8eaaf7d01533 15 90208828 90208828 G T SNP PLIN1 ENST00000300055 human ensembl 74_37 -1 known missense c.1555 p.R519S 1.000 NULL pfam_Perilipin,pirsf_Perilipin - no_errors PLIN1 HGNC ENSG00000166819 tier1 - - 26 0 0.00 7 3 30.00 3 0 0.00 4 0 0.00 PSMC6 0 genome.wustl.edu 37 14 53176455 53176455 + R DEL T T - TCGA-3B-A9HV-01A-11D-A38Z-09 TCGA-3B-A9HV-10A-01D-A38Z-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e3a9307-4a27-4bd1-8c70-7dca0b907ebc c7eb9676-9cbf-4977-8a8e-8eaaf7d01533 14 53176455 53176455 T - DEL PSMC6 ENST00000554952 human ensembl 74_37 +1 known rna NULL NULL 0.141 - - - no_errors PSMC6 HGNC ENSG00000100519 tier1 11 0 0.00 7 3 30.00 0 0 0.00 0 0 0.00 TTC30B 0 genome.wustl.edu 37 2 178417356 178417356 + Missense_Mutation SNP C C T TCGA-3B-A9HV-01A-11D-A38Z-09 TCGA-3B-A9HV-10A-01D-A38Z-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e3a9307-4a27-4bd1-8c70-7dca0b907ebc c7eb9676-9cbf-4977-8a8e-8eaaf7d01533 2 178417356 178417356 C T SNP TTC30B ENST00000408939 human ensembl 74_37 -1 known missense c.136 p.A46T 1.000 smart_TPR_repeat,pfscan_TPR-contain_dom smart_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC30B HGNC ENSG00000196659 tier1 - - 104 0 0.00 32 29 47.54 2 0 0.00 0 1 100.00 FLAD1 0 genome.wustl.edu 37 1 154965395 154965395 + Missense_Mutation SNP G G T TCGA-3B-A9HV-01A-11D-A38Z-09 TCGA-3B-A9HV-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e3a9307-4a27-4bd1-8c70-7dca0b907ebc c7eb9676-9cbf-4977-8a8e-8eaaf7d01533 1 154965395 154965395 G T SNP FLAD1 ENST00000368428 human ensembl 74_37 +1 putative missense c.269 p.S90I 1.000 pfam_PAPS_reduct pfam_PAPS_reduct - no_errors FLAD1 HGNC ENSG00000160688 tier1 - - 31 0 0.00 34 5 12.82 51 0 0.00 66 2 2.94 USH1C 0 genome.wustl.edu 37 11 17538062 17538062 + R SNP G G T TCGA-3B-A9HV-01A-11D-A38Z-09 TCGA-3B-A9HV-10A-01D-A38Z-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e3a9307-4a27-4bd1-8c70-7dca0b907ebc c7eb9676-9cbf-4977-8a8e-8eaaf7d01533 11 17538062 17538062 G T SNP USH1C ENST00000529563 human ensembl 74_37 -1 known rna NULL NULL 0.038 - - - no_errors USH1C HGNC ENSG00000006611 tier1 - - 17 0 0.00 18 4 18.18 33 0 0.00 40 2 4.76 MUC16 0 genome.wustl.edu 37 19 9084380 9084397 + In_Frame_Del DEL CCATGGTGCTGAAAGTTC CCATGGTGCTGAAAGTTC - TCGA-3B-A9HV-01A-11D-A38Z-09 TCGA-3B-A9HV-10A-01D-A38Z-09 CCATGGTGCTGAAAGTTC CCATGGTGCTGAAAGTTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e3a9307-4a27-4bd1-8c70-7dca0b907ebc c7eb9676-9cbf-4977-8a8e-8eaaf7d01533 19 9084380 9084397 CCATGGTGCTGAAAGTTC - DEL MUC16 ENST00000397910 human ensembl 74_37 -1 known in_frame_del c.7435_7418 p.RTFSTMV2473in_frame_delI 0.086:0.087:0.086:0.095:0.103:0.108:0.112:0.114:0.114:0.112:0.109:0.104:0.098:0.089:0.079:0.066:0.051:0.033 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 38 0 0.00 46 2 4.17 38 0 0.00 46 2 4.17