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 NRXN1 0 genome.wustl.edu 37 2 50850699 50850699 + Missense_Mutation SNP A A C TCGA-DX-A6Z2-01A-12D-A36J-09 TCGA-DX-A6Z2-11A-11D-A36M-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4035ea7d-e77b-4637-afb9-5be5411d0a38 4269113e-908e-4959-b1f2-6cfd8a779d59 2 50850699 50850699 A C SNP NRXN1 ENST00000402717 human ensembl 74_37 -1 known missense c.887 p.L296W 1.000 superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN1 HGNC ENSG00000179915 tier1 - - 41 0 0.00 42 14 25.00 141 0 0.00 79 13 14.13 HSF2BP 0 genome.wustl.edu 37 21 44949799 44949799 + Missense_Mutation SNP C C A TCGA-DX-A6Z2-01A-12D-A36J-09 TCGA-DX-A6Z2-11A-11D-A36M-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4035ea7d-e77b-4637-afb9-5be5411d0a38 4269113e-908e-4959-b1f2-6cfd8a779d59 21 44949799 44949799 C A SNP HSF2BP ENST00000291560 human ensembl 74_37 -1 known missense c.840 p.Q280H 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HSF2BP HGNC ENSG00000160207 tier1 - - 53 0 0.00 91 25 21.55 102 0 0.00 54 26 32.50 ALPL 0 genome.wustl.edu 37 1 21890674 21890674 + Missense_Mutation SNP G G A TCGA-DX-A6Z2-01A-12D-A36J-09 TCGA-DX-A6Z2-11A-11D-A36M-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4035ea7d-e77b-4637-afb9-5be5411d0a38 4269113e-908e-4959-b1f2-6cfd8a779d59 1 21890674 21890674 G A SNP ALPL ENST00000374832 human ensembl 74_37 +1 known missense c.613 p.A205T 1.000 pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase,prints_Alkaline_phosphatase - no_errors ALPL HGNC ENSG00000162551 tier1 - - 66 0 0.00 69 22 23.91 51 0 0.00 36 10 21.74 ANO6 0 genome.wustl.edu 37 12 45741992 45741992 + Missense_Mutation SNP A A G TCGA-DX-A6Z2-01A-12D-A36J-09 TCGA-DX-A6Z2-11A-11D-A36M-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4035ea7d-e77b-4637-afb9-5be5411d0a38 4269113e-908e-4959-b1f2-6cfd8a779d59 12 45741992 45741992 A G SNP ANO6 ENST00000425752 human ensembl 74_37 +1 known missense c.527 p.K176R 1.000 NULL pfam_Anoctamin - no_errors ANO6 HGNC ENSG00000177119 tier1 - - 30 0 0.00 34 22 38.60 103 0 0.00 43 29 39.73 TGM7 0 genome.wustl.edu 37 15 43585021 43585021 + Missense_Mutation SNP C C T TCGA-DX-A6Z2-01A-12D-A36J-09 TCGA-DX-A6Z2-11A-11D-A36M-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4035ea7d-e77b-4637-afb9-5be5411d0a38 4269113e-908e-4959-b1f2-6cfd8a779d59 15 43585021 43585021 C T SNP TGM7 ENST00000452443 human ensembl 74_37 -1 known missense c.325 p.A109T 0.912 pfam_Transglutaminase_N,superfamily_Ig_E-set pfam_Transglutaminase_N,pfam_Transglutaminase_C,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM7 HGNC ENSG00000159495 tier1 - - 58 0 0.00 75 48 39.02 85 0 0.00 62 32 34.04 DIAPH2 0 genome.wustl.edu 37 X 96185820 96185820 + Nonsense_Mutation SNP C C G TCGA-DX-A6Z2-01A-12D-A36J-09 TCGA-DX-A6Z2-11A-11D-A36M-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4035ea7d-e77b-4637-afb9-5be5411d0a38 4269113e-908e-4959-b1f2-6cfd8a779d59 X 96185820 96185820 C G SNP DIAPH2 ENST00000324765 human ensembl 74_37 +1 known nonsense c.1067 p.S356* 1.000 pfam_FH3_dom,superfamily_ARM-type_fold pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_Drf_DAD,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors DIAPH2 HGNC ENSG00000147202 tier1 - - 65 0 0.00 95 46 32.62 101 0 0.00 60 31 34.07 ZFYVE9 0 genome.wustl.edu 37 1 52704639 52704639 + Missense_Mutation SNP C C T TCGA-DX-A6Z2-01A-12D-A36J-09 TCGA-DX-A6Z2-11A-11D-A36M-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4035ea7d-e77b-4637-afb9-5be5411d0a38 4269113e-908e-4959-b1f2-6cfd8a779d59 1 52704639 52704639 C T SNP ZFYVE9 ENST00000287727 human ensembl 74_37 +1 known missense c.1550 p.S517L 0.979 pirsf_Znf_FYVE_SARA/endofin pfam_DUF3480,pfam_SARA_Smad-bd,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pirsf_Znf_FYVE_SARA/endofin,pfscan_Znf_FYVE-rel - no_errors ZFYVE9 HGNC ENSG00000157077 tier1 - - 26 0 0.00 34 11 24.44 75 0 0.00 51 22 29.73 CASD1 0 genome.wustl.edu 37 7 94157518 94157518 + Missense_Mutation SNP G G A TCGA-DX-A6Z2-01A-12D-A36J-09 TCGA-DX-A6Z2-11A-11D-A36M-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4035ea7d-e77b-4637-afb9-5be5411d0a38 4269113e-908e-4959-b1f2-6cfd8a779d59 7 94157518 94157518 G A SNP CASD1 ENST00000297273 human ensembl 74_37 +1 known missense c.415 p.E139K 1.000 superfamily_Cyclin-like pfam_Cas1_AcylTrans_dom,superfamily_Cyclin-like - no_errors CASD1 HGNC ENSG00000127995 tier1 - - 72 0 0.00 97 61 38.36 95 0 0.00 63 33 34.02 FMR1 0 genome.wustl.edu 37 X 147018109 147018109 + Missense_Mutation SNP G G A TCGA-DX-A6Z2-01A-12D-A36J-09 TCGA-DX-A6Z2-11A-11D-A36M-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4035ea7d-e77b-4637-afb9-5be5411d0a38 4269113e-908e-4959-b1f2-6cfd8a779d59 X 147018109 147018109 G A SNP FMR1 ENST00000370475 human ensembl 74_37 +1 known missense c.967 p.E323K 1.000 smart_KH_dom,pfscan_KH_dom_type_1 pfam_Frag_X_MRP_fam,pfam_KH_dom_type_1,pfam_Agenet-like_dom,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors FMR1 HGNC ENSG00000102081 tier1 - - 112 0 0.00 127 60 31.75 128 0 0.00 80 29 26.61 CNOT1 0 genome.wustl.edu 37 16 58592426 58592426 + Missense_Mutation SNP A A C TCGA-DX-A6Z2-01A-12D-A36J-09 TCGA-DX-A6Z2-11A-11D-A36M-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4035ea7d-e77b-4637-afb9-5be5411d0a38 4269113e-908e-4959-b1f2-6cfd8a779d59 16 58592426 58592426 A C SNP CNOT1 ENST00000317147 human ensembl 74_37 -1 known missense c.2283 p.N761K 1.000 NULL pfam_CCR4-Not_Not1_C,superfamily_ARM-type_fold - no_errors CNOT1 HGNC ENSG00000125107 tier1 - - 47 0 0.00 76 37 32.74 130 0 0.00 63 30 32.26 PTPRG 0 genome.wustl.edu 37 3 62248555 62248555 + Missense_Mutation SNP T T G TCGA-DX-A6Z2-01A-12D-A36J-09 TCGA-DX-A6Z2-11A-11D-A36M-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4035ea7d-e77b-4637-afb9-5be5411d0a38 4269113e-908e-4959-b1f2-6cfd8a779d59 3 62248555 62248555 T G SNP PTPRG ENST00000474889 human ensembl 74_37 +1 known missense c.2642 p.I881S 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRG HGNC ENSG00000144724 tier1 - - 32 0 0.00 38 14 26.92 131 0 0.00 59 40 40.40 MED12L 0 genome.wustl.edu 37 3 150877791 150877791 + Missense_Mutation SNP C C T TCGA-DX-A6Z2-01A-12D-A36J-09 TCGA-DX-A6Z2-11A-11D-A36M-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4035ea7d-e77b-4637-afb9-5be5411d0a38 4269113e-908e-4959-b1f2-6cfd8a779d59 3 150877791 150877791 C T SNP MED12L ENST00000474524 human ensembl 74_37 +1 known missense c.1010 p.P337L 0.993 pfam_Mediator_Med12_LCEWAV pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd - no_errors MED12L HGNC ENSG00000144893 tier1 - - 27 0 0.00 39 5 11.36 41 0 0.00 27 20 42.55 OR7C1 0 genome.wustl.edu 37 19 14910726 14910726 + Missense_Mutation SNP A A T TCGA-DX-A6Z2-01A-12D-A36J-09 TCGA-DX-A6Z2-11A-11D-A36M-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4035ea7d-e77b-4637-afb9-5be5411d0a38 4269113e-908e-4959-b1f2-6cfd8a779d59 19 14910726 14910726 A T SNP OR7C1 ENST00000248073 human ensembl 74_37 -1 known missense c.223 p.S75T 0.876 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR7C1 HGNC ENSG00000127530 tier1 - - 59 0 0.00 68 41 37.61 68 0 0.00 42 19 31.15 PIGF 0 genome.wustl.edu 37 2 46842277 46842277 + Silent SNP T T C TCGA-DX-A6Z2-01A-12D-A36J-09 TCGA-DX-A6Z2-11A-11D-A36M-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4035ea7d-e77b-4637-afb9-5be5411d0a38 4269113e-908e-4959-b1f2-6cfd8a779d59 2 46842277 46842277 T C SNP PIGF ENST00000281382 human ensembl 74_37 -1 known silent c.27 p.L9 0.236 NULL pfam_GPI_biosynthesis_protein_Pig-F - no_errors PIGF HGNC ENSG00000151665 tier1 - - 47 0 0.00 51 35 40.70 74 0 0.00 47 28 37.33 CASC5 0 genome.wustl.edu 37 15 40916633 40916633 + Missense_Mutation SNP C C G TCGA-DX-A6Z2-01A-12D-A36J-09 TCGA-DX-A6Z2-11A-11D-A36M-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4035ea7d-e77b-4637-afb9-5be5411d0a38 4269113e-908e-4959-b1f2-6cfd8a779d59 15 40916633 40916633 C G SNP CASC5 ENST00000346991 human ensembl 74_37 +1 known missense c.4249 p.L1417V 0.007 NULL NULL - no_errors CASC5 HGNC ENSG00000137812 tier1 - - 23 0 0.00 46 14 23.33 132 0 0.00 57 27 32.14 PCDHA6 0 genome.wustl.edu 37 5 140208853 140208853 + Missense_Mutation SNP G G A TCGA-DX-A6Z2-01A-12D-A36J-09 TCGA-DX-A6Z2-11A-11D-A36M-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4035ea7d-e77b-4637-afb9-5be5411d0a38 4269113e-908e-4959-b1f2-6cfd8a779d59 5 140208853 140208853 G A SNP PCDHA6 ENST00000529310 human ensembl 74_37 +1 known missense c.1177 p.V393I 0.017 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA6 HGNC ENSG00000081842 tier1 - - 67 0 0.00 67 44 39.64 26 0 0.00 13 11 45.83 NUP155 0 genome.wustl.edu 37 5 37348686 37348686 + Missense_Mutation SNP C C T TCGA-DX-A6Z2-01A-12D-A36J-09 TCGA-DX-A6Z2-11A-11D-A36M-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4035ea7d-e77b-4637-afb9-5be5411d0a38 4269113e-908e-4959-b1f2-6cfd8a779d59 5 37348686 37348686 C T SNP NUP155 ENST00000231498 human ensembl 74_37 -1 known missense c.916 p.G306R 1.000 pfam_Nucleoporin_Nup133/Nup155_N pfam_Nucleoporin_Nup133/Nup155_C,pfam_Nucleoporin_Nup133/Nup155_N,superfamily_WD40_repeat_dom - no_errors NUP155 HGNC ENSG00000113569 tier1 - - 20 0 0.00 29 18 38.30 82 0 0.00 47 33 41.25 RUVBL2 0 genome.wustl.edu 37 19 49513277 49513277 + Missense_Mutation SNP G G C TCGA-DX-A6Z2-01A-12D-A36J-09 TCGA-DX-A6Z2-11A-11D-A36M-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4035ea7d-e77b-4637-afb9-5be5411d0a38 4269113e-908e-4959-b1f2-6cfd8a779d59 19 49513277 49513277 G C SNP RUVBL2 ENST00000595090 human ensembl 74_37 +1 known missense c.617 p.G206A 1.000 pfam_TIP49_C,superfamily_P-loop_NTPase,superfamily_-bd_OB-fold,smart_AAA+_ATPase,prints_D_repair_RadA pfam_TIP49_C,pfam_ATPase_AAA_core,pfam_D_helicase_DnaB-like_C,superfamily_P-loop_NTPase,superfamily_-bd_OB-fold,smart_AAA+_ATPase,prints_D_repair_RadA - no_errors RUVBL2 HGNC ENSG00000183207 tier1 - - 47 0 0.00 15 18 54.55 35 0 0.00 14 24 61.54 KCTD3 0 genome.wustl.edu 37 1 215749265 215749265 + Missense_Mutation SNP G G T TCGA-DX-A6Z2-01A-12D-A36J-09 TCGA-DX-A6Z2-11A-11D-A36M-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4035ea7d-e77b-4637-afb9-5be5411d0a38 4269113e-908e-4959-b1f2-6cfd8a779d59 1 215749265 215749265 G T SNP KCTD3 ENST00000259154 human ensembl 74_37 +1 known missense c.205 p.A69S 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_T1-type_BTB,superfamily_BTB/POZ_fold,superfamily_WD40_repeat_dom,smart_BTB/POZ-like,smart_WD40_repeat,pfscan_BTB/POZ-like - no_errors KCTD3 HGNC ENSG00000136636 tier1 - - 43 0 0.00 62 34 35.42 76 0 0.00 59 22 27.16 TP53 0 genome.wustl.edu 37 17 7573976 7573976 + Missense_Mutation SNP T T C TCGA-DX-A6Z2-01A-12D-A36J-09 TCGA-DX-A6Z2-11A-11D-A36M-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4035ea7d-e77b-4637-afb9-5be5411d0a38 4269113e-908e-4959-b1f2-6cfd8a779d59 17 7573976 7573976 T C SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.1051 p.K351E 0.959 pfam_p53_tetrameristn,superfamily_p53_tetrameristn 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 rs141402957 - 18 0 0.00 10 17 62.96 59 0 0.00 11 15 57.69 TMPRSS11E 0 genome.wustl.edu 37 4 69343294 69343294 + Silent SNP T T C TCGA-DX-A6Z2-01A-12D-A36J-09 TCGA-DX-A6Z2-11A-11D-A36M-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4035ea7d-e77b-4637-afb9-5be5411d0a38 4269113e-908e-4959-b1f2-6cfd8a779d59 4 69343294 69343294 T C SNP TMPRSS11E ENST00000305363 human ensembl 74_37 +1 known silent c.915 p.F305 0.000 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pirsf_Pept_S1A_HAT/DESC1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_SEA_dom,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pirsf_Pept_S1A_HAT/DESC1,pfscan_SEA_dom,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors TMPRSS11E HGNC ENSG00000087128 tier1 - - 39 0 0.00 85 34 28.57 111 0 0.00 83 36 30.25 RASGRF1 0 genome.wustl.edu 37 15 79324514 79324514 + Missense_Mutation SNP T T A TCGA-DX-A6Z2-01A-12D-A36J-09 TCGA-DX-A6Z2-11A-11D-A36M-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4035ea7d-e77b-4637-afb9-5be5411d0a38 4269113e-908e-4959-b1f2-6cfd8a779d59 15 79324514 79324514 T A SNP RASGRF1 ENST00000419573 human ensembl 74_37 -1 known missense c.1103 p.D368V 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGRF1 HGNC ENSG00000058335 tier1 - - 37 0 0.00 23 29 55.77 57 0 0.00 30 13 30.23 CLIC4 0 genome.wustl.edu 37 1 25167316 25167316 + Missense_Mutation SNP T T C TCGA-DX-A6Z2-01A-12D-A36J-09 TCGA-DX-A6Z2-11A-11D-A36M-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4035ea7d-e77b-4637-afb9-5be5411d0a38 4269113e-908e-4959-b1f2-6cfd8a779d59 1 25167316 25167316 T C SNP CLIC4 ENST00000374379 human ensembl 74_37 +1 known missense c.650 p.I217T 1.000 superfamily_Glutathione-S-Trfase_C-like,tigrfam_Int_Cl_channel superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_Int_Cl_channel,tigrfam_Int_Cl_channel - no_errors CLIC4 HGNC ENSG00000169504 tier1 - - 24 0 0.00 27 18 40.00 67 0 0.00 40 20 33.33 ULK4 0 genome.wustl.edu 37 3 41723042 41723042 + Missense_Mutation SNP C C A TCGA-DX-A6Z2-01A-12D-A36J-09 TCGA-DX-A6Z2-11A-11D-A36M-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4035ea7d-e77b-4637-afb9-5be5411d0a38 4269113e-908e-4959-b1f2-6cfd8a779d59 3 41723042 41723042 C A SNP ULK4 ENST00000301831 human ensembl 74_37 -1 known missense c.2935 p.D979Y 0.997 superfamily_ARM-type_fold pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ULK4 HGNC ENSG00000168038 tier1 - - 36 0 0.00 48 16 25.00 102 1 0.97 40 24 37.50 LAMA2 0 genome.wustl.edu 37 6 129618898 129618898 + Silent SNP G G A TCGA-DX-A6Z2-01A-12D-A36J-09 TCGA-DX-A6Z2-11A-11D-A36M-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4035ea7d-e77b-4637-afb9-5be5411d0a38 4269113e-908e-4959-b1f2-6cfd8a779d59 6 129618898 129618898 G A SNP LAMA2 ENST00000421865 human ensembl 74_37 +1 known silent c.2925 p.K975 0.963 pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_t-SRE,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA2 HGNC ENSG00000196569 tier1 - - 27 0 0.00 55 20 26.67 79 0 0.00 49 19 27.54 RTF1 0 genome.wustl.edu 37 15 41769421 41769421 + Missense_Mutation SNP A A T TCGA-DX-A6Z2-01A-12D-A36J-09 TCGA-DX-A6Z2-11A-11D-A36M-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4035ea7d-e77b-4637-afb9-5be5411d0a38 4269113e-908e-4959-b1f2-6cfd8a779d59 15 41769421 41769421 A T SNP RTF1 ENST00000389629 human ensembl 74_37 +1 known missense c.1619 p.N540I 1.000 NULL pfam_Plus-3,smart_Plus3-dom_subgr - no_errors RTF1 HGNC ENSG00000137815 tier1 - - 28 0 0.00 44 15 25.00 75 0 0.00 53 26 32.91 ARSG 0 genome.wustl.edu 37 17 66339909 66339909 + Missense_Mutation SNP C C T TCGA-DX-A6Z2-01A-12D-A36J-09 TCGA-DX-A6Z2-11A-11D-A36M-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4035ea7d-e77b-4637-afb9-5be5411d0a38 4269113e-908e-4959-b1f2-6cfd8a779d59 17 66339909 66339909 C T SNP ARSG ENST00000448504 human ensembl 74_37 +1 known missense c.383 p.A128V 0.266 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors ARSG HGNC ENSG00000141337 tier1 rs201030584 - 27 0 0.00 20 13 39.39 78 0 0.00 73 28 27.72 LOC100128164 0 genome.wustl.edu 37 3 169663318 169663318 + R SNP G G A TCGA-DX-A6Z2-01A-12D-A36J-09 TCGA-DX-A6Z2-11A-11D-A36M-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4035ea7d-e77b-4637-afb9-5be5411d0a38 4269113e-908e-4959-b1f2-6cfd8a779d59 3 169663318 169663318 G A SNP LOC100128164 ENST00000483289 human ensembl 74_37 -1 known rna NULL NULL 0.005 - - - no_errors RP11-379K17.4 Clone_based_vega_gene ENSG00000239219 tier1 - - 9 0 0.00 6 12 66.67 56 0 0.00 25 15 37.50 SGMS1 0 genome.wustl.edu 37 10 52066985 52066985 + Missense_Mutation SNP G G C TCGA-DX-A6Z2-01A-12D-A36J-09 TCGA-DX-A6Z2-11A-11D-A36M-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4035ea7d-e77b-4637-afb9-5be5411d0a38 4269113e-908e-4959-b1f2-6cfd8a779d59 10 52066985 52066985 G C SNP SGMS1 ENST00000361781 human ensembl 74_37 -1 known missense c.1159 p.R387G 1.000 NULL pfam_P_Acid_Pase_2/haloperoxidase,pfam_SAM_type1,superfamily_SAM/pointed,superfamily_P_Acid_Pase_2/haloperoxidase,pfscan_SAM - no_errors SGMS1 HGNC ENSG00000198964 tier1 - - 32 0 0.00 27 25 48.08 125 0 0.00 36 31 45.59 FUNDC1 0 genome.wustl.edu 37 X 44397736 44397736 + Missense_Mutation SNP C C G TCGA-DX-A6Z2-01A-12D-A36J-09 TCGA-DX-A6Z2-11A-11D-A36M-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4035ea7d-e77b-4637-afb9-5be5411d0a38 4269113e-908e-4959-b1f2-6cfd8a779d59 X 44397736 44397736 C G SNP FUNDC1 ENST00000378045 human ensembl 74_37 -1 known missense c.238 p.G80R 1.000 pfam_FUN14 pfam_FUN14 - no_errors FUNDC1 HGNC ENSG00000069509 tier1 - - 112 0 0.00 108 49 31.01 126 0 0.00 57 25 30.49 RUNX1T1 0 genome.wustl.edu 37 8 92998487 92998487 + Missense_Mutation SNP G G C TCGA-DX-A6Z2-01A-12D-A36J-09 TCGA-DX-A6Z2-11A-11D-A36M-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4035ea7d-e77b-4637-afb9-5be5411d0a38 4269113e-908e-4959-b1f2-6cfd8a779d59 8 92998487 92998487 G C SNP RUNX1T1 ENST00000436581 human ensembl 74_37 -1 known missense c.1177 p.Q393E 1.000 pfam_NHR2 pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTG8 - no_errors RUNX1T1 HGNC ENSG00000079102 tier1 - - 35 0 0.00 75 24 24.24 53 0 0.00 69 13 15.85 RB1 0 genome.wustl.edu 37 13 48941691 48941691 + Missense_Mutation SNP G G T TCGA-DX-A6Z2-01A-12D-A36J-09 TCGA-DX-A6Z2-11A-11D-A36M-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4035ea7d-e77b-4637-afb9-5be5411d0a38 4269113e-908e-4959-b1f2-6cfd8a779d59 13 48941691 48941691 G T SNP RB1 ENST00000267163 human ensembl 74_37 +1 known missense c.1001 p.R334I 1.000 NULL pfam_RB_C,pfam_RB_A,pfam_RB_B,pfam_RB_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors RB1 HGNC ENSG00000139687 tier1 - - 26 0 0.00 13 16 55.17 51 0 0.00 20 19 48.72 THADA 0 genome.wustl.edu 37 2 43520007 43520007 + Missense_Mutation SNP G G A TCGA-DX-A6Z2-01A-12D-A36J-09 TCGA-DX-A6Z2-11A-11D-A36M-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4035ea7d-e77b-4637-afb9-5be5411d0a38 4269113e-908e-4959-b1f2-6cfd8a779d59 2 43520007 43520007 G A SNP THADA ENST00000405006 human ensembl 74_37 -1 known missense c.4784 p.A1595V 0.802 superfamily_ARM-type_fold pfam_DUF2428_death-receptor-like,superfamily_ARM-type_fold - no_errors THADA HGNC ENSG00000115970 tier1 - - 34 0 0.00 59 34 36.56 112 0 0.00 61 38 38.38 SGTB 0 genome.wustl.edu 37 5 64976603 64976603 + Missense_Mutation SNP C C A TCGA-DX-A6Z2-01A-12D-A36J-09 TCGA-DX-A6Z2-11A-11D-A36M-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4035ea7d-e77b-4637-afb9-5be5411d0a38 4269113e-908e-4959-b1f2-6cfd8a779d59 5 64976603 64976603 C A SNP SGTB ENST00000381007 human ensembl 74_37 -1 known missense c.498 p.L166F 1.000 pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors SGTB HGNC ENSG00000197860 tier1 - - 21 0 0.00 37 21 36.21 102 0 0.00 43 19 30.65 MAP9 0 genome.wustl.edu 37 4 156273880 156273880 + Nonsense_Mutation SNP C C T TCGA-DX-A6Z2-01A-12D-A36J-09 TCGA-DX-A6Z2-11A-11D-A36M-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4035ea7d-e77b-4637-afb9-5be5411d0a38 4269113e-908e-4959-b1f2-6cfd8a779d59 4 156273880 156273880 C T SNP MAP9 ENST00000311277 human ensembl 74_37 -1 known nonsense c.1689 p.W563* 1.000 NULL NULL - no_errors MAP9 HGNC ENSG00000164114 tier1 - - 19 0 0.00 31 17 35.42 23 0 0.00 61 13 17.57 SPRY3 0 genome.wustl.edu 37 X 155003891 155003891 + Missense_Mutation SNP G G A TCGA-DX-A6Z2-01A-12D-A36J-09 TCGA-DX-A6Z2-11A-11D-A36M-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4035ea7d-e77b-4637-afb9-5be5411d0a38 4269113e-908e-4959-b1f2-6cfd8a779d59 X 155003891 155003891 G A SNP SPRY3 ENST00000302805 human ensembl 74_37 +1 known missense c.358 p.G120R 0.387 NULL pfam_Sprouty - no_errors SPRY3 HGNC ENSG00000168939 tier1 - - 57 0 0.00 51 38 42.70 83 0 0.00 45 30 40.00 OR5AP2 0 genome.wustl.edu 37 11 56409135 56409135 + Missense_Mutation SNP T T A TCGA-DX-A6Z2-01A-12D-A36J-09 TCGA-DX-A6Z2-11A-11D-A36M-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4035ea7d-e77b-4637-afb9-5be5411d0a38 4269113e-908e-4959-b1f2-6cfd8a779d59 11 56409135 56409135 T A SNP OR5AP2 ENST00000544374 human ensembl 74_37 -1 known missense c.784 p.I262F 0.019 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5AP2 HGNC ENSG00000172464 tier1 - - 28 0 0.00 25 17 40.48 87 0 0.00 57 25 30.12 TMEM132C 0 genome.wustl.edu 37 12 129153983 129153983 + Missense_Mutation SNP G G A TCGA-DX-A6Z2-01A-12D-A36J-09 TCGA-DX-A6Z2-11A-11D-A36M-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4035ea7d-e77b-4637-afb9-5be5411d0a38 4269113e-908e-4959-b1f2-6cfd8a779d59 12 129153983 129153983 G A SNP TMEM132C ENST00000435159 human ensembl 74_37 +1 known missense c.1327 p.A443T 1.000 NULL NULL - no_errors TMEM132C HGNC ENSG00000181234 tier1 - - 55 0 0.00 46 26 36.11 88 0 0.00 73 36 33.03 PPFIA1 0 genome.wustl.edu 37 11 70184503 70184503 + Missense_Mutation SNP A A T TCGA-DX-A6Z2-01A-12D-A36J-09 TCGA-DX-A6Z2-11A-11D-A36M-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4035ea7d-e77b-4637-afb9-5be5411d0a38 4269113e-908e-4959-b1f2-6cfd8a779d59 11 70184503 70184503 A T SNP PPFIA1 ENST00000253925 human ensembl 74_37 +1 known missense c.1515 p.E505D 0.714 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIA1 HGNC ENSG00000131626 tier1 - - 27 0 0.00 25 24 48.98 69 0 0.00 46 21 31.34 PTCHD4 0 genome.wustl.edu 37 6 47846497 47846497 + Missense_Mutation SNP T T C TCGA-DX-A6Z2-01A-12D-A36J-09 TCGA-DX-A6Z2-11A-11D-A36M-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4035ea7d-e77b-4637-afb9-5be5411d0a38 4269113e-908e-4959-b1f2-6cfd8a779d59 6 47846497 47846497 T C SNP PTCHD4 ENST00000339488 human ensembl 74_37 -1 known missense c.2083 p.I695V 1.000 pfam_Patched pfam_Patched,pfscan_SSD - no_errors PTCHD4 HGNC ENSG00000244694 tier1 - - 27 0 0.00 9 10 52.63 68 0 0.00 12 30 71.43 PLA2G5 0 genome.wustl.edu 37 1 20416375 20416375 + Silent SNP C C T TCGA-DX-A6Z2-01A-12D-A36J-09 TCGA-DX-A6Z2-11A-11D-A36M-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4035ea7d-e77b-4637-afb9-5be5411d0a38 4269113e-908e-4959-b1f2-6cfd8a779d59 1 20416375 20416375 C T SNP PLA2G5 ENST00000375108 human ensembl 74_37 +1 known silent c.279 p.G93 0.390 pfam_PLipase_A2_dom,superfamily_PLipase_A2_dom,smart_PLipase_A2_dom,prints_PLipase_A2 pfam_PLipase_A2_dom,superfamily_PLipase_A2_dom,smart_PLipase_A2_dom,prints_PLipase_A2 - no_errors PLA2G5 HGNC ENSG00000127472 tier1 - - 35 0 0.00 50 20 28.57 80 0 0.00 41 24 36.92 ZCCHC8 0 genome.wustl.edu 37 12 122966188 122966188 + Missense_Mutation SNP C C G TCGA-DX-A6Z2-01A-12D-A36J-09 TCGA-DX-A6Z2-11A-11D-A36M-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4035ea7d-e77b-4637-afb9-5be5411d0a38 4269113e-908e-4959-b1f2-6cfd8a779d59 12 122966188 122966188 C G SNP ZCCHC8 ENST00000336229 human ensembl 74_37 -1 known missense c.899 p.G300A 1.000 pfam_PSP,smart_PSP pfam_PSP,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,smart_PSP,pfscan_Znf_CCHC - no_errors ZCCHC8 HGNC ENSG00000033030 tier1 - - 34 0 0.00 45 24 34.29 69 1 1.43 48 27 36.00 FAM214B 0 genome.wustl.edu 37 9 35108025 35108025 + Missense_Mutation SNP G G T TCGA-DX-A6Z2-01A-12D-A36J-09 TCGA-DX-A6Z2-11A-11D-A36M-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4035ea7d-e77b-4637-afb9-5be5411d0a38 4269113e-908e-4959-b1f2-6cfd8a779d59 9 35108025 35108025 G T SNP FAM214B ENST00000322813 human ensembl 74_37 -1 known missense c.247 p.P83T 1.000 NULL NULL - no_errors FAM214B HGNC ENSG00000005238 tier1 - - 97 0 0.00 128 60 31.75 41 0 0.00 35 18 33.96 PKP4 0 genome.wustl.edu 37 2 159533343 159533343 + Missense_Mutation SNP A A T TCGA-DX-A6Z2-01A-12D-A36J-09 TCGA-DX-A6Z2-11A-11D-A36M-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4035ea7d-e77b-4637-afb9-5be5411d0a38 4269113e-908e-4959-b1f2-6cfd8a779d59 2 159533343 159533343 A T SNP PKP4 ENST00000389759 human ensembl 74_37 +1 known missense c.3220 p.S1074C 1.000 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors PKP4 HGNC ENSG00000144283 tier1 - - 62 0 0.00 91 57 38.51 101 1 0.98 82 38 31.67 ABCB11 0 genome.wustl.edu 37 2 169826677 169826677 + Nonsense_Mutation SNP G G A TCGA-DX-A6Z2-01A-12D-A36J-09 TCGA-DX-A6Z2-11A-11D-A36M-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4035ea7d-e77b-4637-afb9-5be5411d0a38 4269113e-908e-4959-b1f2-6cfd8a779d59 2 169826677 169826677 G A SNP ABCB11 ENST00000263817 human ensembl 74_37 -1 known nonsense c.1687 p.Q563* 1.000 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB11 HGNC ENSG00000073734 tier1 - - 39 0 0.00 65 15 18.75 92 0 0.00 70 17 19.32 PCLO 0 genome.wustl.edu 37 7 82545961 82545961 + Nonsense_Mutation SNP G G A TCGA-DX-A6Z2-01A-12D-A36J-09 TCGA-DX-A6Z2-11A-11D-A36M-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4035ea7d-e77b-4637-afb9-5be5411d0a38 4269113e-908e-4959-b1f2-6cfd8a779d59 7 82545961 82545961 G A SNP PCLO ENST00000333891 human ensembl 74_37 -1 known nonsense c.11341 p.R3781* 0.768 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 tier1 - - 21 0 0.00 28 18 39.13 110 0 0.00 70 27 27.84 RSE12 0 genome.wustl.edu 37 14 21058865 21058865 + Silent SNP T T A TCGA-DX-A6Z2-01A-12D-A36J-09 TCGA-DX-A6Z2-11A-11D-A36M-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4035ea7d-e77b-4637-afb9-5be5411d0a38 4269113e-908e-4959-b1f2-6cfd8a779d59 14 21058865 21058865 T A SNP RSE12 ENST00000556526 human ensembl 74_37 -1 known silent c.18 p.I6 0.000 NULL pfam_RNaseA_domain,superfamily_RNaseA_domain,smart_RNaseA_domain,prints_RNaseA - no_errors RSE12 HGNC ENSG00000258436 tier1 - - 18 0 0.00 24 11 31.43 94 0 0.00 55 25 30.86 NRXN3 0 genome.wustl.edu 37 14 80327536 80327536 + Silent SNP G G A TCGA-DX-A6Z2-01A-12D-A36J-09 TCGA-DX-A6Z2-11A-11D-A36M-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4035ea7d-e77b-4637-afb9-5be5411d0a38 4269113e-908e-4959-b1f2-6cfd8a779d59 14 80327536 80327536 G A SNP NRXN3 ENST00000557594 human ensembl 74_37 +1 novel silent c.1143 p.A381 1.000 NULL pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Neurexin-like,pfscan_Laminin_G - no_errors NRXN3 HGNC ENSG00000021645 tier1 - - 47 0 0.00 28 34 54.84 63 0 0.00 13 22 62.86 SSFA2 0 genome.wustl.edu 37 2 182786788 182786788 + Silent SNP A A G TCGA-DX-A6Z2-01A-12D-A36J-09 TCGA-DX-A6Z2-11A-11D-A36M-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4035ea7d-e77b-4637-afb9-5be5411d0a38 4269113e-908e-4959-b1f2-6cfd8a779d59 2 182786788 182786788 A G SNP SSFA2 ENST00000431877 human ensembl 74_37 +1 known silent c.3324 p.Q1108 0.772 NULL NULL - no_errors SSFA2 HGNC ENSG00000138434 tier1 - - 34 0 0.00 62 25 28.74 122 0 0.00 60 30 32.97 PTPRZ1 0 genome.wustl.edu 37 7 121624027 121624028 + Frame_Shift_Ins INS - - T TCGA-DX-A6Z2-01A-12D-A36J-09 TCGA-DX-A6Z2-11A-11D-A36M-09 - - - T - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4035ea7d-e77b-4637-afb9-5be5411d0a38 4269113e-908e-4959-b1f2-6cfd8a779d59 7 121624027 121624028 - T INS PTPRZ1 ENST00000393386 human ensembl 74_37 +1 known frame_shift_ins c.784_785 p.C264fs 0.999:1.000 pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRZ1 HGNC ENSG00000106278 tier1 28 0 0.00 56 10 15.15 118 0 0.00 68 33 32.67 MTR 0 genome.wustl.edu 37 1 237044109 237044109 + Frame_Shift_Del DEL C C - TCGA-DX-A6Z2-01A-12D-A36J-09 TCGA-DX-A6Z2-11A-11D-A36M-09 C C C - C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4035ea7d-e77b-4637-afb9-5be5411d0a38 4269113e-908e-4959-b1f2-6cfd8a779d59 1 237044109 237044109 C - DEL MTR ENST00000366577 human ensembl 74_37 +1 known frame_shift_del c.2649 p.L884fs 1.000 superfamily_Cobalamin-bd,pirsf_MetH,tigrfam_MetH pfam_S_MeTrfase,pfam_VitB12-dep_Met_synth_activ_dom,pfam_Pterin-binding,pfam_Cbl-bd_cap,pfam_Cobalamin-bd,superfamily_VitB12-dep_Met_synth_activ_dom,superfamily_S_MeTrfase,superfamily_Dihydropteroate_synth-like,superfamily_Cobalamin-bd,superfamily_Cbl-bd_cap,pirsf_MetH,pfscan_VitB12-dep_Met_synth_activ_dom,pfscan_S_MeTrfase,pfscan_Pterin-binding,tigrfam_MetH - no_errors MTR HGNC ENSG00000116984 tier1 34 0 0.00 42 22 34.38 115 0 0.00 65 37 36.27 LAMA5 0 genome.wustl.edu 37 20 60908645 60908645 + Missense_Mutation SNP C C T TCGA-DX-A6Z2-01A-12D-A36J-09 TCGA-DX-A6Z2-11A-11D-A36M-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4035ea7d-e77b-4637-afb9-5be5411d0a38 4269113e-908e-4959-b1f2-6cfd8a779d59 20 60908645 60908645 C T SNP LAMA5 ENST00000252999 human ensembl 74_37 -1 known missense c.2996 p.R999H 0.078 NULL pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors LAMA5 HGNC ENSG00000130702 tier1 - - 12 0 0.00 21 7 25.00 6 0 0.00 5 7 58.33 NYAP2 0 genome.wustl.edu 37 2 226447647 226447647 + Missense_Mutation SNP G G A TCGA-DX-A6Z2-01A-12D-A36J-09 TCGA-DX-A6Z2-11A-11D-A36M-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4035ea7d-e77b-4637-afb9-5be5411d0a38 4269113e-908e-4959-b1f2-6cfd8a779d59 2 226447647 226447647 G A SNP NYAP2 ENST00000272907 human ensembl 74_37 +1 known missense c.1514 p.R505Q 0.991 NULL NULL - no_errors NYAP2 HGNC ENSG00000144460 tier1 - - 36 0 0.00 41 19 31.67 6 0 0.00 0 2 100.00 SLC6A10P 0 genome.wustl.edu 37 16 32893375 32893375 + R SNP C C A TCGA-DX-A6Z2-01A-12D-A36J-09 TCGA-DX-A6Z2-11A-11D-A36M-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4035ea7d-e77b-4637-afb9-5be5411d0a38 4269113e-908e-4959-b1f2-6cfd8a779d59 16 32893375 32893375 C A SNP SLC6A10P ENST00000330048 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors SLC6A10P HGNC ENSG00000214617 tier1 - - 12 0 0.00 11 8 42.11 7 0 0.00 2 2 50.00 TRAF3 0 genome.wustl.edu 37 14 103369714 103369714 + Silent SNP G G A TCGA-DX-A6Z2-01A-12D-A36J-09 TCGA-DX-A6Z2-11A-11D-A36M-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4035ea7d-e77b-4637-afb9-5be5411d0a38 4269113e-908e-4959-b1f2-6cfd8a779d59 14 103369714 103369714 G A SNP TRAF3 ENST00000392745 human ensembl 74_37 +1 known silent c.1083 p.V361 1.000 pirsf_TNF_rcpt--assoc_TRAF pfam_MATH,superfamily_TRAF-like,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH,pfscan_Znf_RING,pfscan_Znf_TRAF - no_errors TRAF3 HGNC ENSG00000131323 tier1 - - 22 0 0.00 8 18 69.23 15 0 0.00 9 9 50.00 INGX 0 genome.wustl.edu 37 X 70711917 70711917 + R SNP G G A TCGA-DX-A6Z2-01A-12D-A36J-09 TCGA-DX-A6Z2-11A-11D-A36M-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4035ea7d-e77b-4637-afb9-5be5411d0a38 4269113e-908e-4959-b1f2-6cfd8a779d59 X 70711917 70711917 G A SNP INGX ENST00000489074 human ensembl 74_37 -1 known rna NULL NULL 0.008 - - - no_errors INGX HGNC ENSG00000243468 tier1 - - 45 0 0.00 58 6 9.38 140 0 0.00 114 6 4.96 CUL4B 0 genome.wustl.edu 37 X 119691849 119691849 + Missense_Mutation SNP T T G TCGA-DX-A6Z2-01A-12D-A36J-09 TCGA-DX-A6Z2-11A-11D-A36M-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4035ea7d-e77b-4637-afb9-5be5411d0a38 4269113e-908e-4959-b1f2-6cfd8a779d59 X 119691849 119691849 T G SNP CUL4B ENST00000404115 human ensembl 74_37 -1 known missense c.656 p.K219T 1.000 pfam_Cullin_N,superfamily_Cullin_repeat-like_dom pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL4B HGNC ENSG00000158290 tier1 - - 30 0 0.00 48 12 20.00 116 0 0.00 100 11 9.91 CEP350 0 genome.wustl.edu 37 1 180062224 180062233 + Frame_Shift_Del DEL GTTGAAAGAG GTTGAAAGAG - TCGA-DX-A6Z2-01A-12D-A36J-09 TCGA-DX-A6Z2-11A-11D-A36M-09 GTTGAAAGAG GTTGAAAGAG GTTGAAAGAG - GTTGAAAGAG GTTGAAAGAG Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 4035ea7d-e77b-4637-afb9-5be5411d0a38 4269113e-908e-4959-b1f2-6cfd8a779d59 1 180062224 180062233 GTTGAAAGAG - DEL CEP350 ENST00000367607 human ensembl 74_37 +1 known frame_shift_del c.6984_6993 p.M2328fs 0.000:0.000:0.001:0.004:0.066:0.121:0.165:0.206:0.221:0.109 NULL pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain - no_errors CEP350 HGNC ENSG00000135837 tier1 86 0 0.00 64 4 5.88 86 0 0.00 64 4 5.88 MT-CO1 0 genome.wustl.edu 37 MT 6327 6327 + Missense_Mutation SNP T T A TCGA-DX-A6Z2-01A-12D-A36J-09 TCGA-DX-A6Z2-11A-11D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4035ea7d-e77b-4637-afb9-5be5411d0a38 4269113e-908e-4959-b1f2-6cfd8a779d59 MT 6327 6327 T A SNP MT-CO1 ENST00000361624 human ensembl 74_37 +1 known missense c.424 p.S142T NULL pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1 - no_errors MT-CO1 HGNC ENSG00000198804 tier1 - - 636 0 0.00 10 2 16.67 6 0 0.00 0 0 0.00 PIDD 0 genome.wustl.edu 37 11 799456 799456 + Silent SNP G G T TCGA-DX-A6Z2-01A-12D-A36J-09 TCGA-DX-A6Z2-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4035ea7d-e77b-4637-afb9-5be5411d0a38 4269113e-908e-4959-b1f2-6cfd8a779d59 11 799456 799456 G T SNP PIDD ENST00000347755 human ensembl 74_37 -1 known silent c.2584 p.R862 1.000 pfam_Death_domain,superfamily_DEATH-like_dom,smart_Death_domain,pfscan_Death_domain pfam_Peptidase_S68_pidd,pfam_Death_domain,pfam_Leu-rich_rpt,pfam_ZU5,superfamily_DEATH-like_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Death_domain,pfscan_Death_domain,pfscan_ZU5 - no_errors PIDD HGNC ENSG00000177595 tier1 - - 43 0 0.00 33 4 10.81 11 0 0.00 2 0 0.00 UBC 0 genome.wustl.edu 37 12 125396494 125396494 + Silent SNP C C T TCGA-DX-A6Z2-01A-12D-A36J-09 TCGA-DX-A6Z2-11A-11D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4035ea7d-e77b-4637-afb9-5be5411d0a38 4269113e-908e-4959-b1f2-6cfd8a779d59 12 125396494 125396494 C T SNP UBC ENST00000339647 human ensembl 74_37 -1 known silent c.1824 p.G608 0.620 pfscan_Ubiquitin_supergroup pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup,prints_Ubiquitin - no_errors UBC HGNC ENSG00000150991 tier1 - - 28 0 0.00 28 26 48.15 6 0 0.00 5 1 16.67 DNM1P47 0 genome.wustl.edu 37 15 102294648 102294648 + R SNP T T C TCGA-DX-A6Z2-01A-12D-A36J-09 TCGA-DX-A6Z2-11A-11D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4035ea7d-e77b-4637-afb9-5be5411d0a38 4269113e-908e-4959-b1f2-6cfd8a779d59 15 102294648 102294648 T C SNP DNM1P47 ENST00000561463 human ensembl 74_37 +1 known rna NULL NULL 0.999 - - - no_errors DNM1P47 HGNC ENSG00000259660 tier1 - - 55 0 0.00 68 7 9.33 0 0 0.00 0 0 0.00 DNM1P47 0 genome.wustl.edu 37 15 102294651 102294651 + R SNP T T G TCGA-DX-A6Z2-01A-12D-A36J-09 TCGA-DX-A6Z2-11A-11D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4035ea7d-e77b-4637-afb9-5be5411d0a38 4269113e-908e-4959-b1f2-6cfd8a779d59 15 102294651 102294651 T G SNP DNM1P47 ENST00000561463 human ensembl 74_37 +1 known rna NULL NULL 0.999 - - - no_errors DNM1P47 HGNC ENSG00000259660 tier1 - - 55 0 0.00 69 7 9.21 0 0 0.00 0 0 0.00 ENSG00000272231 0 genome.wustl.edu 37 12 74293692 74293701 + R DEL ATACACATAC ATACACATAC - TCGA-DX-A6Z2-01A-12D-A36J-09 TCGA-DX-A6Z2-11A-11D-A36M-09 ATACACATAC ATACACATAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4035ea7d-e77b-4637-afb9-5be5411d0a38 4269113e-908e-4959-b1f2-6cfd8a779d59 12 74293692 74293701 ATACACATAC - DEL ENSG00000272231 ENST00000606199 human ensembl 74_37 +1 novel rna NULL NULL 0.002:0.002:0.002:0.002:0.004:0.007:0.009:0.010:0.011:0.011 - - - no_errors AC136188.1 Clone_based_ensembl_gene ENSG00000272231 tier1 0 0 0.00 0 0 0.00 0 0 0.00 0 0 0.00 FAM230A 0 genome.wustl.edu 37 22 20710080 20710080 + Silent SNP G G A TCGA-DX-A6Z2-01A-12D-A36J-09 TCGA-DX-A6Z2-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4035ea7d-e77b-4637-afb9-5be5411d0a38 4269113e-908e-4959-b1f2-6cfd8a779d59 22 20710080 20710080 G A SNP FAM230A ENST00000434783 human ensembl 74_37 +1 known silent c.1812 p.S604 0.061 superfamily_Kinase-like_dom pfam_Ret-finger_pr-like_3_antisense,superfamily_Kinase-like_dom - no_errors FAM230A HGNC ENSG00000188280 tier1 - - 52 0 0.00 45 22 32.84 1 0 0.00 0 0 0.00 KRTAP10-9 0 genome.wustl.edu 37 21 46048196 46048197 + R INS - - CGCTGGT TCGA-DX-A6Z2-01A-12D-A36J-09 TCGA-DX-A6Z2-11A-11D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4035ea7d-e77b-4637-afb9-5be5411d0a38 4269113e-908e-4959-b1f2-6cfd8a779d59 21 46048196 46048197 - CGCTGGT INS KRTAP10-9 ENST00000484861 human ensembl 74_37 +1 known rna NULL NULL 0.001:0.001 - - - no_errors KRTAP10-9 HGNC ENSG00000221837 tier1 0 0 0.00 0 0 0.00 0 0 0.00 0 0 0.00 KRTAP2-2 0 genome.wustl.edu 37 17 39211139 39211140 + In_Frame_Ins INS - - GCAGGGGGGCCGGCA TCGA-DX-A6Z2-01A-12D-A36J-09 TCGA-DX-A6Z2-11A-11D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4035ea7d-e77b-4637-afb9-5be5411d0a38 4269113e-908e-4959-b1f2-6cfd8a779d59 17 39211139 39211140 - GCAGGGGGGCCGGCA INS KRTAP2-2 ENST00000542910 human ensembl 74_37 -1 known in_frame_ins c.325_324 p.108in_frame_insCRPPC 1.000:1.000 NULL pfam_Keratin-assoc - no_errors KRTAP2-2 HGNC ENSG00000214518 tier1 1 0 0.00 0 0 0.00 1 0 0.00 0 0 0.00 LOC100190940 0 genome.wustl.edu 37 12 130521234 130521235 + R INS - - A TCGA-DX-A6Z2-01A-12D-A36J-09 TCGA-DX-A6Z2-11A-11D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4035ea7d-e77b-4637-afb9-5be5411d0a38 4269113e-908e-4959-b1f2-6cfd8a779d59 12 130521234 130521235 - A INS LOC100190940 ENST00000291374 human ensembl 74_37 -1 known rna NULL NULL 0.029:0.046 - - - no_errors RP11-474D1.3 Clone_based_vega_gene ENSG00000214039 tier1 8 0 0.00 22 3 12.00 1 0 0.00 3 0 0.00 LOC101927601 0 genome.wustl.edu 37 15 82637166 82637167 + Frame_Shift_Ins INS - - CCCTCTCC TCGA-DX-A6Z2-01A-12D-A36J-09 TCGA-DX-A6Z2-11A-11D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4035ea7d-e77b-4637-afb9-5be5411d0a38 4269113e-908e-4959-b1f2-6cfd8a779d59 15 82637166 82637167 - CCCTCTCC INS LOC101927601 ENST00000439287 human ensembl 74_37 -1 known frame_shift_ins c.920_919 p.E307fs 0.989:0.976 NULL NULL - no_errors GOLGA6L10 Uniprot_gn ENSG00000205281 tier1 0 0 0.00 0 0 0.00 0 0 0.00 0 0 0.00 LOC644794 0 genome.wustl.edu 37 7 66369212 66369213 + R INS - - GGCCTTTCCAGGCCCAGCTCTCGCCTCCCGGC TCGA-DX-A6Z2-01A-12D-A36J-09 TCGA-DX-A6Z2-11A-11D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4035ea7d-e77b-4637-afb9-5be5411d0a38 4269113e-908e-4959-b1f2-6cfd8a779d59 7 66369212 66369213 - GGCCTTTCCAGGCCCAGCTCTCGCCTCCCGGC INS LOC644794 ENST00000610177 human ensembl 74_37 +1 known rna NULL NULL 0.293:0.454 - - - no_errors RP11-458F8.4 Clone_based_vega_gene ENSG00000273142 tier1 3 0 0.00 1 0 0.00 3 0 0.00 1 0 0.00 ZBTB11 0 genome.wustl.edu 37 3 101390763 101390763 + Missense_Mutation SNP G G T TCGA-DX-A6Z2-01A-12D-A36J-09 TCGA-DX-A6Z2-11A-11D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4035ea7d-e77b-4637-afb9-5be5411d0a38 4269113e-908e-4959-b1f2-6cfd8a779d59 3 101390763 101390763 G T SNP ZBTB11 ENST00000461821 human ensembl 74_37 -1 putative missense c.605 p.A202D 0.000 NULL NULL - no_errors ZBTB11 HGNC ENSG00000066422 tier1 - - 36 0 0.00 34 4 10.53 123 0 0.00 134 2 1.47