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 title header normal_ref_reads normal_var_reads normal_VAF tumor_ref_reads tumor_var_reads tumor_VAF CSDE1 0 genome.wustl.edu 37 1 115266562 115266562 + Silent SNP C C T TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 1 115266562 115266562 C T SNP CSDE1 ENST00000369530 human ensembl 74_37 -1 known silent c.1860 p.L620 1.000 NULL pfam_CSP_DNA-bd,superfamily_NA-bd_OB-fold,smart_Cold_shock_prot - no_errors CSDE1 HGNC ENSG00000009307 194 0 0 145 11 7.05128 SYCP1 0 genome.wustl.edu 37 1 115453042 115453042 + Missense_Mutation SNP G G A TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 1 115453042 115453042 G A SNP SYCP1 ENST00000369518 human ensembl 74_37 +1 known missense c.1345 p.E449K 1.000 pfam_SCP-1 pfam_SCP-1 - no_errors SYCP1 HGNC ENSG00000198765 50 0 0 40 3 6.97674 FLG 0 genome.wustl.edu 37 1 152286012 152286012 + Missense_Mutation SNP G G T TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 1 152286012 152286012 G T SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.1350 p.H450Q 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 247 0 0 290 29 9.09091 HMCN1 0 genome.wustl.edu 37 1 186158760 186158760 + Missense_Mutation SNP G G A TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 1 186158760 186158760 G A SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known missense c.16658 p.R5553Q 1.000 superfamily_Cadherin-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors HMCN1 HGNC ENSG00000143341 36 0 0 35 18 33.9623 DISC1 0 genome.wustl.edu 37 1 232162197 232162197 + Missense_Mutation SNP C C A TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 1 232162197 232162197 C A SNP DISC1 ENST00000439617 human ensembl 74_37 +1 known missense c.2324 p.S775Y 0.984 NULL superfamily_Prefoldin - no_errors DISC1 HGNC ENSG00000162946 13 0 0 27 2 6.89655 ABCA4 0 genome.wustl.edu 37 1 94546153 94546153 + Missense_Mutation SNP G G A TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 1 94546153 94546153 G A SNP ABCA4 ENST00000370225 human ensembl 74_37 -1 known missense c.980 p.P327L 1.000 tigrfam_Rim_ABC_transpt pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Rim_ABC_transpt - no_errors ABCA4 HGNC ENSG00000198691 102 0 0 60 37 38.1443 LBX1 0 genome.wustl.edu 37 10 102987212 102987212 + Missense_Mutation SNP C C T TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 10 102987212 102987212 C T SNP LBX1 ENST00000370193 human ensembl 74_37 -1 known missense c.661 p.G221S 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif - no_errors LBX1 HGNC ENSG00000138136 16 0 0 4 3 42.8571 NFKB2 0 genome.wustl.edu 37 10 104160423 104160423 + Missense_Mutation SNP G G T TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 10 104160423 104160423 G T SNP NFKB2 ENST00000369966 human ensembl 74_37 +1 known missense c.1810 p.V604L 0.666 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_RHD,pfam_Ankyrin_rpt,pfam_Death_domain,superfamily_p53-like_TF_DNA-bd,superfamily_Ankyrin_rpt-contain_dom,superfamily_Ig_E-set,superfamily_DEATH-like_dom,smart_IPT,smart_Ankyrin_rpt,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_RHD,prints_NF_Rel_Dor,prints_Ankyrin_rpt - no_errors NFKB2 HGNC ENSG00000077150 38 0 0 29 2 6.45161 C10orf82 0 genome.wustl.edu 37 10 118424407 118424407 + Missense_Mutation SNP G G T TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 10 118424407 118424407 G T SNP C10orf82 ENST00000588184 human ensembl 74_37 -1 known missense c.326 p.A109E 0.589 NULL NULL - no_errors C10orf82 HGNC ENSG00000165863 122 0 0 64 50 43.8596 C10orf120 0 genome.wustl.edu 37 10 124457429 124457429 + Silent SNP G G A TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 10 124457429 124457429 G A SNP C10orf120 ENST00000329446 human ensembl 74_37 -1 known silent c.828 p.I276 0.058 NULL NULL - no_errors C10orf120 HGNC ENSG00000183559 90 0 0 54 51 48.5714 DCLRE1C 0 genome.wustl.edu 37 10 14976747 14976747 + Silent SNP C C T TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 10 14976747 14976747 C T SNP DCLRE1C ENST00000378278 human ensembl 74_37 -1 known silent c.492 p.L164 0.999 NULL pfam_DRMBL - no_errors DCLRE1C HGNC ENSG00000152457 133 0 0 106 39 26.8966 FAM21A 0 genome.wustl.edu 37 10 51827887 51827887 + Missense_Mutation SNP A A G TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 10 51827887 51827887 A G SNP FAM21A ENST00000282633 human ensembl 74_37 +1 known missense c.26 p.Q9R 0.386 NULL NULL - no_errors FAM21A HGNC ENSG00000099290 22 0 0 23 10 30.303 ASAH2 0 genome.wustl.edu 37 10 52003054 52003054 + Missense_Mutation SNP G G A TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 10 52003054 52003054 G A SNP ASAH2 ENST00000395526 human ensembl 74_37 -1 known missense c.418 p.R140C 1.000 pfam_Ceramidase_alk pfam_Ceramidase_alk - no_errors ASAH2 HGNC ENSG00000188611 153 1 0.649351 116 52 30.9524 ANK3 0 genome.wustl.edu 37 10 61932869 61932869 + Missense_Mutation SNP C C G TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 10 61932869 61932869 C G SNP ANK3 ENST00000280772 human ensembl 74_37 -1 known missense c.2260 p.A754P 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK3 HGNC ENSG00000151150 46 0 0 229 23 9.12698 PTEN 0 genome.wustl.edu 37 10 89653785 89653785 + Missense_Mutation SNP T T G TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 10 89653785 89653785 T G SNP PTEN ENST00000371953 human ensembl 74_37 +1 known missense c.83 p.I28S 1.000 smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Phosphatase_tensin-typ pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_dom,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors PTEN HGNC ENSG00000171862 60 0 0 39 4 9.30233 IFIT1 0 genome.wustl.edu 37 10 91162119 91162119 + Silent SNP C C T TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 10 91162119 91162119 C T SNP IFIT1 ENST00000371804 human ensembl 74_37 +1 known silent c.87 p.D29 0.000 NULL pfam_TPR_2,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors IFIT1 HGNC ENSG00000185745 114 0 0 44 29 39.726 HTR3A 0 genome.wustl.edu 37 11 113853876 113853876 + Missense_Mutation SNP G G A TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 11 113853876 113853876 G A SNP HTR3A ENST00000355556 human ensembl 74_37 +1 known missense c.427 p.V143M 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_5HT3_rcpt_A,prints_5HT3_rcpt,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_5HT3_rcpt_A,prints_5HT3_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors HTR3A HGNC ENSG00000166736 112 0 0 56 44 44 SLC17A6 0 genome.wustl.edu 37 11 22363309 22363309 + Missense_Mutation SNP G G A TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 11 22363309 22363309 G A SNP SLC17A6 ENST00000263160 human ensembl 74_37 +1 known missense c.322 p.G108S 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A6 HGNC ENSG00000091664 74 0 0 21 32 60.3774 GANAB 0 genome.wustl.edu 37 11 62394519 62394519 + Splice_Site SNP C C T TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 11 62394519 62394519 C T SNP GANAB ENST00000346178 human ensembl 74_37 -1 known splice_site c.2388+1 e20+1 1.000 - - - no_errors GANAB HGNC ENSG00000089597 115 0 0 64 8 11.1111 CLEC9A 0 genome.wustl.edu 37 12 10215774 10215774 + Missense_Mutation SNP C C T TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 12 10215774 10215774 C T SNP CLEC9A ENST00000355819 human ensembl 74_37 +1 putative missense c.440 p.T147M 0.001 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CLEC9A HGNC ENSG00000197992 63 0 0 61 23 27.381 ERBB3 0 genome.wustl.edu 37 12 56495354 56495354 + Missense_Mutation SNP C C G TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 12 56495354 56495354 C G SNP ERBB3 ENST00000267101 human ensembl 74_37 +1 known missense c.3544 p.L1182V 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ERBB3 HGNC ENSG00000065361 52 0 0 23 17 42.5 LATS2 0 genome.wustl.edu 37 13 21555776 21555776 + Missense_Mutation SNP T T C TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 13 21555776 21555776 T C SNP LATS2 ENST00000382592 human ensembl 74_37 -1 known missense c.2494 p.R832G 0.673 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_Pkinase_C,superfamily_Kinase-like_dom,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom - no_errors LATS2 HGNC ENSG00000150457 27 0 0 26 9 25.7143 GPALPP1 0 genome.wustl.edu 37 13 45578502 45578502 + Missense_Mutation SNP G G A TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 13 45578502 45578502 G A SNP GPALPP1 ENST00000361121 human ensembl 74_37 +1 known missense c.151 p.E51K 0.764 NULL pfam_DUF3752 - no_errors GPALPP1 HGNC ENSG00000133114 86 0 0 94 6 6 TM2D3 0 genome.wustl.edu 37 15 102182797 102182797 + Missense_Mutation SNP C C T TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 15 102182797 102182797 C T SNP TM2D3 ENST00000333202 human ensembl 74_37 -1 known missense c.629 p.R210Q 1.000 pfam_TM2 pfam_TM2 - no_errors TM2D3 HGNC ENSG00000184277 47 0 0 24 2 7.69231 CDAN1 0 genome.wustl.edu 37 15 43021535 43021535 + Silent SNP C C T TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 15 43021535 43021535 C T SNP CDAN1 ENST00000356231 human ensembl 74_37 -1 known silent c.2433 p.S811 0.053 NULL NULL - no_errors CDAN1 HGNC ENSG00000140326 95 0 0 43 27 38.5714 TCF12 0 genome.wustl.edu 37 15 57511694 57511694 + RNA SNP C C A TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 15 57511694 57511694 C A SNP TCF12 ENST00000560764 human ensembl 74_37 +1 known rna NULL NULL 0.917 - - - no_errors TCF12 HGNC ENSG00000140262 18 0 0 11 7 38.8889 ANPEP 0 genome.wustl.edu 37 15 90347484 90347484 + Missense_Mutation SNP C C A TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 15 90347484 90347484 C A SNP ANPEP ENST00000300060 human ensembl 74_37 -1 known missense c.1179 p.Q393H 1.000 pfam_Peptidase_M1_N,prints_Peptidase_M1_N pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors ANPEP HGNC ENSG00000166825 145 0 0 100 12 10.7143 EEF2K 0 genome.wustl.edu 37 16 22268610 22268610 + Nonsense_Mutation SNP C C T TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 16 22268610 22268610 C T SNP EEF2K ENST00000263026 human ensembl 74_37 +1 known nonsense c.805 p.Q269* 1.000 pfam_MHCK_EF2_kinase,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pirsf_Elongation_factor_2_kinase,pfscan_MHCK_EF2_kinase pfam_MHCK_EF2_kinase,pfam_Sel1-like,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pirsf_Elongation_factor_2_kinase,pfscan_MHCK_EF2_kinase - no_errors EEF2K HGNC ENSG00000103319 83 0 0 98 6 5.76923 E4F1 0 genome.wustl.edu 37 16 2283951 2283951 + Silent SNP G G A TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 16 2283951 2283951 G A SNP E4F1 ENST00000301727 human ensembl 74_37 +1 known silent c.1335 p.P445 0.002 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors E4F1 HGNC ENSG00000167967 13 0 0 19 2 9.52381 ENSG00000259966 0 genome.wustl.edu 37 16 32621756 32621756 + RNA SNP G G T TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 16 32621756 32621756 G T SNP ENSG00000259966 ENST00000566952 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors RP11-652G5.1 Clone_based_vega_gene ENSG00000259966 119 0 0 122 25 17.0068 AKAP10 0 genome.wustl.edu 37 17 19844304 19844304 + Silent SNP G G T TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 17 19844304 19844304 G T SNP AKAP10 ENST00000225737 human ensembl 74_37 -1 known silent c.1081 p.R361 1.000 pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam - no_errors AKAP10 HGNC ENSG00000108599 50 0 0 44 3 6.38298 KPNB1 0 genome.wustl.edu 37 17 45757454 45757454 + Missense_Mutation SNP G G A TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 17 45757454 45757454 G A SNP KPNB1 ENST00000290158 human ensembl 74_37 +1 known missense c.2422 p.E808K 1.000 superfamily_ARM-type_fold pfam_HEAT,pfam_Importin-beta_N,pfam_Armadillo,superfamily_ARM-type_fold,smart_Importin-beta_N,smart_Armadillo,pfscan_HEAT_type_2,pfscan_Importin-beta_N - no_errors KPNB1 HGNC ENSG00000108424 163 0 0 83 64 43.5374 WSCD1 0 genome.wustl.edu 37 17 6021341 6021341 + Missense_Mutation SNP G G A TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 17 6021341 6021341 G A SNP WSCD1 ENST00000317744 human ensembl 74_37 +1 known missense c.1208 p.R403Q 1.000 superfamily_P-loop_NTPase pfam_WSC_carb-bd,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,smart_WSC_carb-bd_subgr,pfscan_WSC_carb-bd - no_errors WSCD1 HGNC ENSG00000179314 74 0 0 57 12 17.3913 TP53 0 genome.wustl.edu 37 17 7578413 7578413 + Missense_Mutation SNP C C T TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 17 7578413 7578413 C T SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.517 p.V173M 0.996 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 74 0 0 19 17 47.2222 NDEL1 0 genome.wustl.edu 37 17 8349043 8349043 + Missense_Mutation SNP G G A TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 17 8349043 8349043 G A SNP NDEL1 ENST00000299734 human ensembl 74_37 +1 known missense c.101 p.R34Q 1.000 NULL pfam_NUDE_C - no_errors NDEL1 HGNC ENSG00000166579 56 0 0 19 17 47.2222 DSG3 0 genome.wustl.edu 37 18 29055712 29055712 + Missense_Mutation SNP C C T TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 18 29055712 29055712 C T SNP DSG3 ENST00000257189 human ensembl 74_37 +1 known missense c.2489 p.S830F 1.000 pfam_Cadherin_cytoplasmic-dom,prints_Desmoglein,prints_Desmosomal_cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmosomal_cadherin - no_errors DSG3 HGNC ENSG00000134757 53 0 0 26 2 7.14286 DSEL 0 genome.wustl.edu 37 18 65180427 65180427 + Missense_Mutation SNP G G T TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 18 65180427 65180427 G T SNP DSEL ENST00000310045 human ensembl 74_37 -1 known missense c.1449 p.N483K 1.000 NULL pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,superfamily_Chondroitin_lyas - no_errors DSEL HGNC ENSG00000171451 73 0 0 65 6 8.4507 PRKCSH 0 genome.wustl.edu 37 19 11556203 11556203 + Splice_Site SNP G G A TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 19 11556203 11556203 G A SNP PRKCSH ENST00000252455 human ensembl 74_37 +1 known splice_site c.599-1 e7-1 1.000 - - - no_errors PRKCSH HGNC ENSG00000130175 40 0 0 52 4 7.14286 AKAP8L 0 genome.wustl.edu 37 19 15512388 15512388 + Missense_Mutation SNP G G A TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 19 15512388 15512388 G A SNP AKAP8L ENST00000397410 human ensembl 74_37 -1 known missense c.389 p.S130L 0.992 NULL pfam_AKAP95 - no_errors AKAP8L HGNC ENSG00000011243 15 0 0 13 2 13.3333 CPAMD8 0 genome.wustl.edu 37 19 17122279 17122279 + Missense_Mutation SNP C C T TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 19 17122279 17122279 C T SNP CPAMD8 ENST00000443236 human ensembl 74_37 -1 known missense c.622 p.E208K 0.955 pfam_A2M_N pfam_A2M_comp,pfam_A2M_N_2,pfam_Methyltransf_FA,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Kazal_dom,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,smart_Kazal_dom - no_errors CPAMD8 HGNC ENSG00000160111 80 0 0 71 4 5.33333 KIRREL2 0 genome.wustl.edu 37 19 36349318 36349318 + Missense_Mutation SNP C C T TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 19 36349318 36349318 C T SNP KIRREL2 ENST00000360202 human ensembl 74_37 +1 known missense c.220 p.R74W 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors KIRREL2 HGNC ENSG00000126259 71 0 0 41 58 58.5859 KIRREL2 0 genome.wustl.edu 37 19 36351836 36351836 + Silent SNP G G A TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 19 36351836 36351836 G A SNP KIRREL2 ENST00000360202 human ensembl 74_37 +1 known silent c.954 p.P318 0.001 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors KIRREL2 HGNC ENSG00000126259 25 0 0 36 2 5.26316 APLP1 0 genome.wustl.edu 37 19 36370317 36370317 + Missense_Mutation SNP T T C TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 19 36370317 36370317 T C SNP APLP1 ENST00000221891 human ensembl 74_37 +1 known missense c.1930 p.Y644H 1.000 pfam_APP_amyloid_C,prints_Amyloid_glyco pfam_Amyloid_glyco_heparin-bd,pfam_APP_amyloid_C,superfamily_Amyloid_glyco_E2_domain,superfamily_Amyloid_glyco_heparin-bd,superfamily_Amyloid_glyco_Cu-bd,smart_Amyloid_glyco_extra,prints_Amyloid_glyco - no_errors APLP1 HGNC ENSG00000105290 103 0 0 108 8 6.89655 SLC6A16 0 genome.wustl.edu 37 19 49797748 49797748 + Missense_Mutation SNP G G A TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 19 49797748 49797748 G A SNP SLC6A16 ENST00000335875 human ensembl 74_37 -1 known missense c.1292 p.P431L 0.761 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport - no_errors SLC6A16 HGNC ENSG00000063127 87 0 0 123 15 10.8696 ZNF525 0 genome.wustl.edu 37 19 53887191 53887191 + RNA SNP T T A TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 19 53887191 53887191 T A SNP ZNF525 ENST00000601790 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ZNF525 HGNC ENSG00000203326 16 0 0 20 2 9.09091 MUC16 0 genome.wustl.edu 37 19 9018164 9018164 + Silent SNP G G A TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 19 9018164 9018164 G A SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known silent c.37774 p.L12592 0.000 pfam_SEA_dom pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 191 0 0 122 8 6.15385 AFF3 0 genome.wustl.edu 37 2 100181979 100181979 + Missense_Mutation SNP G G A TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 2 100181979 100181979 G A SNP AFF3 ENST00000356421 human ensembl 74_37 -1 known missense c.3164 p.T1055M 0.998 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF3 HGNC ENSG00000144218 112 0 0 122 10 7.57576 SDPR 0 genome.wustl.edu 37 2 192700704 192700704 + Missense_Mutation SNP C C T TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 2 192700704 192700704 C T SNP SDPR ENST00000304141 human ensembl 74_37 -1 known missense c.1223 p.R408H 0.000 NULL NULL - no_errors SDPR HGNC ENSG00000168497 52 0 0 23 18 43.9024 SLC39A10 0 genome.wustl.edu 37 2 196548511 196548511 + Missense_Mutation SNP C C T TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 2 196548511 196548511 C T SNP SLC39A10 ENST00000359634 human ensembl 74_37 +1 known missense c.1097 p.A366V 0.999 NULL pfam_ZIP - no_errors SLC39A10 HGNC ENSG00000196950 81 0 0 85 5 5.55556 KANSL3 0 genome.wustl.edu 37 2 97271204 97271204 + Missense_Mutation SNP G G T TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 2 97271204 97271204 G T SNP KANSL3 ENST00000431828 human ensembl 74_37 -1 known missense c.1786 p.L596I 0.943 NULL NULL - no_errors KANSL3 HGNC ENSG00000114982 63 0 0 78 29 27.1028 HELZ2 0 genome.wustl.edu 37 20 62203721 62203721 + Silent SNP G G A TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 20 62203721 62203721 G A SNP HELZ2 ENST00000467148 human ensembl 74_37 -1 known silent c.18 p.A6 0.011 NULL superfamily_P-loop_NTPase - no_errors HELZ2 HGNC ENSG00000130589 9 0 0 2 2 50 UMODL1 0 genome.wustl.edu 37 21 43531059 43531059 + Missense_Mutation SNP C C T TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 21 43531059 43531059 C T SNP UMODL1 ENST00000408989 human ensembl 74_37 +1 known missense c.1727 p.T576M 0.065 NULL pfam_ZP_dom,pfam_SEA_dom,pfam_EGF-like_Ca-bd_dom,pfam_EMI_domain,pfam_WAP-type_4-diS_core,superfamily_Fibronectin_type3,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,smart_EGF-like_Ca-bd_dom,smart_Fibronectin_type3,smart_ZP_dom,pfscan_EG-like_dom,pfscan_EMI_domain,pfscan_Fibronectin_type3,pfscan_ZP_dom,prints_ZP_dom - no_errors UMODL1 HGNC ENSG00000177398 19 0 0 10 6 37.5 LGALS1 0 genome.wustl.edu 37 22 38074508 38074508 + Silent SNP C C T TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 22 38074508 38074508 C T SNP LGALS1 ENST00000215909 human ensembl 74_37 +1 known silent c.108 p.G36 1.000 pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD - no_errors LGALS1 HGNC ENSG00000100097 39 0 0 21 28 57.1429 C3orf79 0 genome.wustl.edu 37 3 153203809 153203809 + Silent SNP C C T TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 3 153203809 153203809 C T SNP C3orf79 ENST00000446603 human ensembl 74_37 +1 known silent c.138 p.S46 0.002 NULL NULL - no_errors C3orf79 HGNC ENSG00000237787 8 0 0 2 3 60 ARHGEF26 0 genome.wustl.edu 37 3 153973256 153973256 + Silent SNP C C T TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 3 153973256 153973256 C T SNP ARHGEF26 ENST00000356448 human ensembl 74_37 +1 known silent c.2610 p.N870 1.000 NULL pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF26 HGNC ENSG00000114790 23 0 0 13 9 40.9091 PIK3CA 0 genome.wustl.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 3 178936091 178936091 G A SNP PIK3CA ENST00000263967 human ensembl 74_37 +1 known missense c.1633 p.E545K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 45 0 0 75 5 6.25 USP53 0 genome.wustl.edu 37 4 120177442 120177442 + Missense_Mutation SNP C C G TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 4 120177442 120177442 C G SNP USP53 ENST00000274030 human ensembl 74_37 +1 known missense c.414 p.S138R 0.999 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP53 HGNC ENSG00000145390 60 0 0 78 6 7.14286 MTNR1A 0 genome.wustl.edu 37 4 187455407 187455407 + Silent SNP G G A TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 4 187455407 187455407 G A SNP MTNR1A ENST00000307161 human ensembl 74_37 -1 known silent c.489 p.L163 0.043 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Melatonin_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Melatonin_rcpt,prints_GPCR_Rhodpsn,prints_Mel_1A_rcpt,prints_NPY_rcpt,prints_Mel_rcpt_1C - no_errors MTNR1A HGNC ENSG00000168412 79 0 0 42 3 6.66667 FRG1 0 genome.wustl.edu 37 4 190874269 190874269 + Missense_Mutation SNP A A T TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 4 190874269 190874269 A T SNP FRG1 ENST00000226798 human ensembl 74_37 +1 known missense c.306 p.L102F 0.985 pfam_FRG1,pfam_Fascin-domain,superfamily_Actin_cross-linking pfam_FRG1,pfam_Fascin-domain,superfamily_Actin_cross-linking - no_errors FRG1 HGNC ENSG00000109536 34 0 0 40 3 6.97674 RPL9 0 genome.wustl.edu 37 4 39458038 39458038 + Missense_Mutation SNP G G C TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 4 39458038 39458038 G C SNP RPL9 ENST00000295955 human ensembl 74_37 -1 known missense c.379 p.R127G 1.000 pfam_Ribosomal_L6_a/b-dom,superfamily_Ribosomal_L6_a/b-dom,pirsf_Ribosomal_L6 pfam_Ribosomal_L6_a/b-dom,superfamily_Ribosomal_L6_a/b-dom,pirsf_Ribosomal_L6 - no_errors RPL9 HGNC ENSG00000163682 55 0 0 29 15 34.0909 PARP8 0 genome.wustl.edu 37 5 50055476 50055476 + Splice_Site SNP G G A TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 5 50055476 50055476 G A SNP PARP8 ENST00000281631 human ensembl 74_37 +1 known splice_site c.185-1 e4-1 1.000 - - - no_errors PARP8 HGNC ENSG00000151883 38 0 0 45 6 11.7647 CWC27 0 genome.wustl.edu 37 5 64097145 64097145 + Missense_Mutation SNP C C G TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 5 64097145 64097145 C G SNP CWC27 ENST00000381070 human ensembl 74_37 +1 known missense c.766 p.P256A 0.042 NULL pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors CWC27 HGNC ENSG00000153015 12 0 0 9 8 47.0588 ARMC2 0 genome.wustl.edu 37 6 109274511 109274511 + Silent SNP G G A TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 6 109274511 109274511 G A SNP ARMC2 ENST00000392644 human ensembl 74_37 +1 known silent c.1872 p.L624 0.998 superfamily_ARM-type_fold superfamily_ARM-type_fold,smart_Armadillo - no_errors ARMC2 HGNC ENSG00000118690 47 0 0 17 16 48.4848 AMD1 0 genome.wustl.edu 37 6 111214017 111214017 + Missense_Mutation SNP G G T TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 6 111214017 111214017 G T SNP AMD1 ENST00000368885 human ensembl 74_37 +1 known missense c.695 p.G232V 1.000 pfam_S-AdoMet_decarboxylase,superfamily_S-AdoMet_deCO2ase_core,pirsf_S-AdoMet_decarboxylase_subgr,tigrfam_S-AdoMet_decarboxylase_subgr pfam_S-AdoMet_decarboxylase,superfamily_S-AdoMet_deCO2ase_core,pirsf_S-AdoMet_decarboxylase_subgr,tigrfam_S-AdoMet_decarboxylase_subgr - no_errors AMD1 HGNC ENSG00000123505 109 0 0 47 36 43.3735 HIST1H3H 0 genome.wustl.edu 37 6 27777970 27777970 + Missense_Mutation SNP A A C TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 6 27777970 27777970 A C SNP HIST1H3H ENST00000369163 human ensembl 74_37 +1 known missense c.119 p.H40P 1.000 superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 - no_errors HIST1H3H HGNC ENSG00000203813 49 0 0 41 9 18 C6orf106 0 genome.wustl.edu 37 6 34574511 34574511 + Nonsense_Mutation SNP T T A TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 6 34574511 34574511 T A SNP C6orf106 ENST00000374023 human ensembl 74_37 -1 known nonsense c.682 p.K228* 1.000 NULL superfamily_UBA-like - no_errors C6orf106 HGNC ENSG00000196821 39 0 0 44 6 12 C6orf106 0 genome.wustl.edu 37 6 34574534 34574534 + Missense_Mutation SNP C C T TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 6 34574534 34574534 C T SNP C6orf106 ENST00000374023 human ensembl 74_37 -1 known missense c.659 p.R220Q 1.000 NULL superfamily_UBA-like - no_errors C6orf106 HGNC ENSG00000196821 47 0 0 47 6 11.3208 MLIP 0 genome.wustl.edu 37 6 54034364 54034364 + Silent SNP C C A TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 6 54034364 54034364 C A SNP MLIP ENST00000274897 human ensembl 74_37 +1 known silent c.933 p.T311 1.000 NULL NULL - no_errors MLIP HGNC ENSG00000146147 29 0 0 26 12 31.5789 PHF3 0 genome.wustl.edu 37 6 64410303 64410303 + Missense_Mutation SNP G G A TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 6 64410303 64410303 G A SNP PHF3 ENST00000262043 human ensembl 74_37 +1 known missense c.3046 p.E1016K 1.000 pfam_TFIIS_cen_dom,superfamily_TFIIS_cen_dom,smart_TFS2M pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger - no_errors PHF3 HGNC ENSG00000118482 53 0 0 68 6 8.10811 GABRR1 0 genome.wustl.edu 37 6 89890019 89890019 + Missense_Mutation SNP G G A TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 6 89890019 89890019 G A SNP GABRR1 ENST00000454853 human ensembl 74_37 -1 known missense c.1138 p.R380W 0.888 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAa_rho1_rcpt,prints_Neur_channel,prints_GABAAa_rho_rcpt,tigrfam_Neur_channel - no_errors GABRR1 HGNC ENSG00000146276 44 0 0 30 2 6.25 COL14A1 0 genome.wustl.edu 37 8 121256220 121256220 + Missense_Mutation SNP G G A TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 8 121256220 121256220 G A SNP COL14A1 ENST00000297848 human ensembl 74_37 +1 known missense c.2452 p.V818I 0.989 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_VWF_A,pfam_Fibronectin_type3,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL14A1 HGNC ENSG00000187955 83 0 0 69 31 31 ATAD2 0 genome.wustl.edu 37 8 124382185 124382185 + Silent SNP G G A TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 8 124382185 124382185 G A SNP ATAD2 ENST00000287394 human ensembl 74_37 -1 known silent c.807 p.D269 0.788 NULL pfam_ATPase_AAA_core,pfam_Bromodomain,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors ATAD2 HGNC ENSG00000156802 17 0 0 19 4 17.3913 BAI1 0 genome.wustl.edu 37 8 143623631 143623631 + Missense_Mutation SNP G G C TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 8 143623631 143623631 G C SNP BAI1 ENST00000323289 human ensembl 74_37 +1 known missense c.4036 p.V1346L 1.000 NULL pfam_GPCR_2_secretin-like,pfam_Thrombospondin_1_rpt,pfam_DUF3497,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like - no_errors BAI1 HGNC ENSG00000181790 59 0 0 64 5 7.24638 PSD3 0 genome.wustl.edu 37 8 18729821 18729821 + Missense_Mutation SNP T T G TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 8 18729821 18729821 T G SNP PSD3 ENST00000440756 human ensembl 74_37 -1 known missense c.553 p.K185Q 0.001 NULL pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom - no_errors PSD3 HGNC ENSG00000156011 75 0 0 65 9 12.1622 PSD3 0 genome.wustl.edu 37 8 18729822 18729822 + Missense_Mutation SNP G G T TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 8 18729822 18729822 G T SNP PSD3 ENST00000440756 human ensembl 74_37 -1 known missense c.552 p.N184K 0.003 NULL pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom - no_errors PSD3 HGNC ENSG00000156011 75 0 0 65 8 10.9589 NUGGC 0 genome.wustl.edu 37 8 27884560 27884560 + Missense_Mutation SNP C C T TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 8 27884560 27884560 C T SNP NUGGC ENST00000341513 human ensembl 74_37 -1 known missense c.2164 p.V722M 0.884 NULL pfam_Dynamin_GTPase,superfamily_P-loop_NTPase - no_errors NUGGC HGNC ENSG00000189233 129 0 0 67 49 42.2414 PRKDC 0 genome.wustl.edu 37 8 48740855 48740855 + Silent SNP C C T TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 8 48740855 48740855 C T SNP PRKDC ENST00000314191 human ensembl 74_37 -1 known silent c.8448 p.L2816 0.029 NULL pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors PRKDC HGNC ENSG00000253729 20 0 0 27 7 20.5882 ASS1 0 genome.wustl.edu 37 9 133333964 133333964 + Silent SNP C C T TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 9 133333964 133333964 C T SNP ASS1 ENST00000352480 human ensembl 74_37 +1 known silent c.351 p.G117 0.240 pfam_Arginosuc_synth,tigrfam_Arginosuc_synth pfam_Arginosuc_synth,pfam_QueC,tigrfam_Arginosuc_synth - no_errors ASS1 HGNC ENSG00000130707 18 0 0 17 2 10.5263 RPS6 0 genome.wustl.edu 37 9 19378872 19378872 + Silent SNP G G A TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 9 19378872 19378872 G A SNP RPS6 ENST00000380394 human ensembl 74_37 -1 known silent c.183 p.F61 1.000 pfam_Ribosomal_S6e,pirsf_Ribosomal_S6_euk pfam_Ribosomal_S6e,pirsf_Ribosomal_S6_euk - no_errors RPS6 HGNC ENSG00000137154 39 0 0 27 3 10 ERMP1 0 genome.wustl.edu 37 9 5810125 5810125 + Missense_Mutation SNP A A C TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 9 5810125 5810125 A C SNP ERMP1 ENST00000339450 human ensembl 74_37 -1 known missense c.1434 p.I478M 0.997 NULL pfam_Peptidase_M28,pfam_Peptidase_M20 - no_errors ERMP1 HGNC ENSG00000099219 116 0 0 51 39 43.3333 ENSG00000236733 0 genome.wustl.edu 37 9 71437457 71437457 + RNA SNP G G T TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 9 71437457 71437457 G T SNP ENSG00000236733 ENST00000442103 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-203L2.4 Clone_based_vega_gene ENSG00000236733 19 0 0 15 10 40 SAGE1 0 genome.wustl.edu 37 X 134986673 134986673 + Silent SNP A A T TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 X 134986673 134986673 A T SNP SAGE1 ENST00000324447 human ensembl 74_37 +1 known silent c.258 p.I86 0.056 NULL NULL - no_errors SAGE1 HGNC ENSG00000181433 99 0 0 47 79 62.6984 L1CAM 0 genome.wustl.edu 37 X 153134082 153134082 + Missense_Mutation SNP G G A TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 X 153134082 153134082 G A SNP L1CAM ENST00000543994 human ensembl 74_37 -1 known missense c.1486 p.R496C 0.469 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors L1CAM HGNC ENSG00000198910 39 0 0 44 5 10.2041 ZBTB40 0 genome.wustl.edu 37 1 22838561 22838563 + In_Frame_Del DEL AAG AAG - TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 AAG AAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 1 22838561 22838563 AAG - DEL ZBTB40 ENST00000375647 human ensembl 74_37 +1 known in_frame_del c.2395_2397 p.K802in_frame_del 1.000:1.000:1.000 NULL pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB40 HGNC ENSG00000184677 62 0 0 48 5 9.43396 DNAJC6 0 genome.wustl.edu 37 1 65871724 65871724 + Frame_Shift_Del DEL A A - TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 1 65871724 65871724 A - DEL DNAJC6 ENST00000371069 human ensembl 74_37 +1 known frame_shift_del c.2399 p.H800fs 1.000 superfamily_DnaJ_domain pfam_Tensin_phosphatase_C2-dom,pfam_DnaJ_domain,superfamily_DnaJ_domain,superfamily_C2_dom,smart_DnaJ_domain,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom,pfscan_DnaJ_domain - no_errors DNAJC6 HGNC ENSG00000116675 99 0 0 48 36 42.8571 MMP12 0 genome.wustl.edu 37 11 102738793 102738794 + RNA INS - - T TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 11 102738793 102738794 - T INS MMP12 ENST00000326227 human ensembl 74_37 -1 known rna NULL NULL 0.975:1.000 - - - no_errors MMP12 HGNC ENSG00000110347 8 0 0 11 5 31.25 NCAPD3 0 genome.wustl.edu 37 11 134078847 134078848 + Splice_Site INS - - A TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 11 134078847 134078848 - A INS NCAPD3 ENST00000534548 human ensembl 74_37 -1 known splice_site_ins c.795-3_795-2 e7-2 1.000:0.997 - - - no_errors NCAPD3 HGNC ENSG00000151503 24 0 0 25 2 7.40741 C11orf54 0 genome.wustl.edu 37 11 93486914 93486914 + Frame_Shift_Del DEL A A - TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 11 93486914 93486914 A - DEL C11orf54 ENST00000331239 human ensembl 74_37 +1 known frame_shift_del c.221 p.V77fs 0.016 pfam_DUF1907 pfam_DUF1907 - no_errors C11orf54 HGNC ENSG00000182919 26 0 0 25 3 10.7143 MIR370 0 genome.wustl.edu 37 14 101377543 101377546 + RNA DEL GTCT GTCT - TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 GTCT GTCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 14 101377543 101377546 GTCT - DEL MIR370 ENST00000362135 human ensembl 74_37 +1 known rna NULL NULL 1.000:1.000:1.000:1.000 - - - no_errors MIR370 HGNC ENSG00000199005 37 0 0 23 2 8 APC 0 genome.wustl.edu 37 5 112175944 112175945 + Frame_Shift_Del DEL AG AG - TCGA-FP-7735-01A-11D-2053-08 TCGA-FP-7735-10A-01D-2053-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fe717798-d698-49c2-bbc9-e0c5679505c1 2610c0da-b6d7-4109-9949-6a1023488172 5 112175944 112175945 AG - DEL APC ENST00000257430 human ensembl 74_37 +1 known frame_shift_del c.4653_4654 p.E1552fs 0.989:0.999 NULL 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 53 0 0 22 12 35.2941