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 rsID rsID_ref_var_alleles CAF normal_ref_reads normal_var_reads normal_vaf tumor_ref_reads tumor_var_reads tumor_vaf normal_ref_reads_val normal_var_reads_val normal_vaf_val tumor_ref_reads_val tumor_var_reads_val tumor_vaf_val MT-ND5 0 genome.wustl.edu 37 MT 13327 13327 + Missense_Mutation SNP A A G TCGA-3S-A8YW-01A-11D-A423-09 TCGA-3S-A8YW-10A-01D-A426-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 67b5676a-84a1-44fb-9301-b962911b7f93 b9e36959-d9a1-43d8-a24f-c35495eb6d7a MT 13327 13327 A G SNP MT-ND5 ENST00000361567 human ensembl 74_37 1 known missense c.991 p.T331A NULL pfam_NADH_UbQ/plastoQ_OxRdtase,tigrfam_NADHpl_OxRdtase_5 pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5 0 no_errors 0 0 0 24 0 0 0 15 100 0 0 0.00 0 2 100.00 DMD 0 genome.wustl.edu 37 X 31986629 31986629 + Missense_Mutation SNP T T G TCGA-3S-A8YW-01A-11D-A423-09 TCGA-3S-A8YW-10A-01D-A426-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 67b5676a-84a1-44fb-9301-b962911b7f93 b9e36959-d9a1-43d8-a24f-c35495eb6d7a X 31986629 31986629 T G SNP DMD ENST00000357033 human ensembl 74_37 -1 known missense c.6441 p.E2147D 0.999 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ 0 no_errors 0 0 0 37 0 0 8 10 55.56 109 0 0.00 20 60 75.00 PKN2 0 genome.wustl.edu 37 1 89250347 89250347 + Silent SNP C C T TCGA-3S-A8YW-01A-11D-A423-09 TCGA-3S-A8YW-10A-01D-A426-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 67b5676a-84a1-44fb-9301-b962911b7f93 b9e36959-d9a1-43d8-a24f-c35495eb6d7a 1 89250347 89250347 C T SNP PKN2 ENST00000370521 human ensembl 74_37 1 known silent c.1011 p.G337 1 superfamily_C2_dom,smart_C2_dom pfam_Prot_kinase_dom,pfam_HR1_rho-bd,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,superfamily_C2_dom,smart_HR1_rho-bd,smart_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom 0 no_errors 0 0 0 68 0 0 43 20 31.75 211 0 0.00 121 100 45.05 TNR 0 genome.wustl.edu 37 1 175372743 175372743 + Missense_Mutation SNP T T C TCGA-3S-A8YW-01A-11D-A423-09 TCGA-3S-A8YW-10A-01D-A426-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 67b5676a-84a1-44fb-9301-b962911b7f93 b9e36959-d9a1-43d8-a24f-c35495eb6d7a 1 175372743 175372743 T C SNP TNR ENST00000263525 human ensembl 74_37 -1 known missense c.509 p.D170G 1 NULL pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_Fibronectin_type3 0 no_errors 0 0 0 47 0 0 29 23 44.23 160 0 0.00 130 106 44.73 IQSEC1 0 genome.wustl.edu 37 3 12944297 12944297 + Silent SNP C C T TCGA-3S-A8YW-01A-11D-A423-09 TCGA-3S-A8YW-10A-01D-A426-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 67b5676a-84a1-44fb-9301-b962911b7f93 b9e36959-d9a1-43d8-a24f-c35495eb6d7a 3 12944297 12944297 C T SNP IQSEC1 ENST00000273221 human ensembl 74_37 -1 known silent c.2823 p.A941 1 NULL pfam_Sec7_dom,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7_dom 0 no_errors 0 0 0 42 0 0 21 8 27.59 107 0 0.00 63 36 36.36 TMIE 0 genome.wustl.edu 37 3 46751098 46751098 + Missense_Mutation SNP A A G TCGA-3S-A8YW-01A-11D-A423-09 TCGA-3S-A8YW-10A-01D-A426-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 67b5676a-84a1-44fb-9301-b962911b7f93 b9e36959-d9a1-43d8-a24f-c35495eb6d7a 3 46751098 46751098 A G SNP TMIE ENST00000326431 human ensembl 74_37 1 known missense c.391 p.K131E 1 NULL NULL 0 no_errors rs201683042 A->G 0 35 0 0 24 3 11.11 107 2 1.83 80 4 4.71 CCDC51 0 genome.wustl.edu 37 3 48474247 48474247 + Missense_Mutation SNP C C G TCGA-3S-A8YW-01A-11D-A423-09 TCGA-3S-A8YW-10A-01D-A426-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 67b5676a-84a1-44fb-9301-b962911b7f93 b9e36959-d9a1-43d8-a24f-c35495eb6d7a 3 48474247 48474247 C G SNP CCDC51 ENST00000395694 human ensembl 74_37 -1 known missense c.807 p.L269F 0.339 NULL NULL 0 no_errors 0 0 0 22 0 0 11 5 31.25 125 0 0.00 42 41 48.81 FAM200B 0 genome.wustl.edu 37 4 15689810 15689810 + Missense_Mutation SNP G G C TCGA-3S-A8YW-01A-11D-A423-09 TCGA-3S-A8YW-10A-01D-A426-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 67b5676a-84a1-44fb-9301-b962911b7f93 b9e36959-d9a1-43d8-a24f-c35495eb6d7a 4 15689810 15689810 G C SNP FAM200B ENST00000422728 human ensembl 74_37 1 putative missense c.1210 p.E404Q 0.993 superfamily_RNaseH-like_dom superfamily_RNaseH-like_dom,superfamily_PAH 0 no_errors 0 0 0 54 0 0 51 13 20.31 115 0 0.00 147 32 17.88 MAD2L1 0 genome.wustl.edu 37 4 120986968 120986968 + Missense_Mutation SNP C C T TCGA-3S-A8YW-01A-11D-A423-09 TCGA-3S-A8YW-10A-01D-A426-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 67b5676a-84a1-44fb-9301-b962911b7f93 b9e36959-d9a1-43d8-a24f-c35495eb6d7a 4 120986968 120986968 C T SNP MAD2L1 ENST00000296509 human ensembl 74_37 -1 known missense c.79 p.G27S 1 pfam_HORMA_DNA-bd,superfamily_HORMA_DNA-bd,pfscan_HORMA_DNA-bd pfam_HORMA_DNA-bd,superfamily_HORMA_DNA-bd,pfscan_HORMA_DNA-bd 0 no_errors 0 0 0 64 0 0 73 25 25.51 146 0 0.00 127 26 16.99 GALNTL6 0 genome.wustl.edu 37 4 173942726 173942726 + Missense_Mutation SNP C C T TCGA-3S-A8YW-01A-11D-A423-09 TCGA-3S-A8YW-10A-01D-A426-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 67b5676a-84a1-44fb-9301-b962911b7f93 b9e36959-d9a1-43d8-a24f-c35495eb6d7a 4 173942726 173942726 C T SNP GALNTL6 ENST00000506823 human ensembl 74_37 1 known missense c.1588 p.L530F 1 pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin 0 no_errors 0 0 0 47 0 0 28 7 20 113 0 0.00 140 41 22.65 EFHC1 0 genome.wustl.edu 37 6 52344482 52344482 + Silent SNP T T C TCGA-3S-A8YW-01A-11D-A423-09 TCGA-3S-A8YW-10A-01D-A426-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 67b5676a-84a1-44fb-9301-b962911b7f93 b9e36959-d9a1-43d8-a24f-c35495eb6d7a 6 52344482 52344482 T C SNP EFHC1 ENST00000371068 human ensembl 74_37 1 known silent c.1537 p.L513 0.104 smart_Uncharacterised_DM10 pfam_DUF1126,smart_Uncharacterised_DM10,pfscan_EF_hand_dom 0 no_errors 0 0 0 81 0 0 39 26 40 174 0 0.00 110 49 30.82 TBX18 0 genome.wustl.edu 37 6 85453986 85453986 + Missense_Mutation SNP G G A TCGA-3S-A8YW-01A-11D-A423-09 TCGA-3S-A8YW-10A-01D-A426-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 67b5676a-84a1-44fb-9301-b962911b7f93 b9e36959-d9a1-43d8-a24f-c35495eb6d7a 6 85453986 85453986 G A SNP TBX18 ENST00000369663 human ensembl 74_37 -1 known missense c.997 p.R333C 1 smart_TF_T-box pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,prints_TF_T-box,pfscan_TF_T-box 0 no_errors 0 0 0 63 0 0 34 18 34.62 240 2 0.83 118 56 32.18 GJB7 0 genome.wustl.edu 37 6 87994415 87994415 + Silent SNP G G C TCGA-3S-A8YW-01A-11D-A423-09 TCGA-3S-A8YW-10A-01D-A426-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 67b5676a-84a1-44fb-9301-b962911b7f93 b9e36959-d9a1-43d8-a24f-c35495eb6d7a 6 87994415 87994415 G C SNP GJB7 ENST00000296882 human ensembl 74_37 -1 known silent c.216 p.S72 0.999 pfam_Connexin_N,smart_Connexin_N,prints_Connexin pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin 0 no_errors 0 0 0 34 0 0 17 10 37.04 242 0 0.00 140 81 36.65 REV3L 0 genome.wustl.edu 37 6 111726735 111726735 + Missense_Mutation SNP T T C TCGA-3S-A8YW-01A-11D-A423-09 TCGA-3S-A8YW-10A-01D-A426-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 67b5676a-84a1-44fb-9301-b962911b7f93 b9e36959-d9a1-43d8-a24f-c35495eb6d7a 6 111726735 111726735 T C SNP REV3L ENST00000358835 human ensembl 74_37 -1 known missense c.503 p.N168S 1 pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B 0 no_errors rs547946785 T->C 0.9998,0.0001997 78 0 0 44 17 27.87 210 0 0.00 108 72 40.00 OPRM1 0 genome.wustl.edu 37 6 154412608 154412608 + Splice_Site SNP G G T TCGA-3S-A8YW-01A-11D-A423-09 TCGA-3S-A8YW-10A-01D-A426-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 67b5676a-84a1-44fb-9301-b962911b7f93 b9e36959-d9a1-43d8-a24f-c35495eb6d7a 6 154412608 154412608 G T SNP OPRM1 ENST00000434900 human ensembl 74_37 1 known splice_site c.1443+1 e4+1 1 0 0 0 no_errors 0 0 0 25 0 0 32 3 8.57 239 0 0.00 171 13 6.99 GET4 0 genome.wustl.edu 37 7 927107 927107 + Missense_Mutation SNP G G T TCGA-3S-A8YW-01A-11D-A423-09 TCGA-3S-A8YW-10A-01D-A426-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 67b5676a-84a1-44fb-9301-b962911b7f93 b9e36959-d9a1-43d8-a24f-c35495eb6d7a 7 927107 927107 G T SNP GET4 ENST00000265857 human ensembl 74_37 1 known missense c.417 p.K139N 1 pfam_UPF0363 pfam_UPF0363 0 no_errors 0 0 0 67 0 0 35 27 43.55 106 0 0.00 47 15 24.19 RSPH10B 0 genome.wustl.edu 37 7 5983557 5983557 + Missense_Mutation SNP C C T TCGA-3S-A8YW-01A-11D-A423-09 TCGA-3S-A8YW-10A-01D-A426-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 67b5676a-84a1-44fb-9301-b962911b7f93 b9e36959-d9a1-43d8-a24f-c35495eb6d7a 7 5983557 5983557 C T SNP RSPH10B ENST00000337579 human ensembl 74_37 -1 known missense c.1594 p.A532T 1 NULL pfam_MORN,smart_MORN 0 no_errors 0 0 0 93 0 0 56 21 27.27 123 0 0.00 92 33 26.19 MPP6 0 genome.wustl.edu 37 7 24727232 24727232 + Nonstop_Mutation SNP G G C TCGA-3S-A8YW-01A-11D-A423-09 TCGA-3S-A8YW-10A-01D-A426-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 67b5676a-84a1-44fb-9301-b962911b7f93 b9e36959-d9a1-43d8-a24f-c35495eb6d7a 7 24727232 24727232 G C SNP MPP6 ENST00000222644 human ensembl 74_37 1 known nonstop c.1622 p.*541S 1 NULL pfam_GK/Ca_channel_bsu,pfam_L27_C,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like 0 no_errors 0 0 0 75 0 0 43 11 20.37 224 0 0.00 188 45 19.23 MSR1 0 genome.wustl.edu 37 8 16026357 16026357 + Silent SNP C C T TCGA-3S-A8YW-01A-11D-A423-09 TCGA-3S-A8YW-10A-01D-A426-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 67b5676a-84a1-44fb-9301-b962911b7f93 b9e36959-d9a1-43d8-a24f-c35495eb6d7a 8 16026357 16026357 C T SNP MSR1 ENST00000262101 human ensembl 74_37 -1 known silent c.240 p.T80 0.992 NULL pfam_SRCR,pfam_Macro_scav_rcpt,pfam_Collagen,superfamily_Srcr_rcpt-rel,superfamily_STAT_TF_coiled-coil,smart_Srcr_rcpt-rel,prints_Macro_scav_rcpt,prints_SRCR,pfscan_SRCR 0 no_errors 0 0 0 45 0 0 13 18 58.06 183 0 0.00 119 132 52.38 GEM 0 genome.wustl.edu 37 8 95262574 95262574 + Silent SNP G G T TCGA-3S-A8YW-01A-11D-A423-09 TCGA-3S-A8YW-10A-01D-A426-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 67b5676a-84a1-44fb-9301-b962911b7f93 b9e36959-d9a1-43d8-a24f-c35495eb6d7a 8 95262574 95262574 G T SNP GEM ENST00000297596 human ensembl 74_37 -1 known silent c.855 p.L285 1 pirsf_Small_GTPase_GEM/REM/Rad pfam_Small_GTPase,pfam_MIRO-like,pfam_Fe2_transport_prot_B_N,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,pirsf_Small_GTPase_GEM/REM/Rad,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom 0 no_errors 0 0 0 53 0 0 78 23 22.77 188 1 0.53 314 63 16.71 ERP44 0 genome.wustl.edu 37 9 102784465 102784465 + Silent SNP G G T TCGA-3S-A8YW-01A-11D-A423-09 TCGA-3S-A8YW-10A-01D-A426-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 67b5676a-84a1-44fb-9301-b962911b7f93 b9e36959-d9a1-43d8-a24f-c35495eb6d7a 9 102784465 102784465 G T SNP ERP44 ENST00000262455 human ensembl 74_37 -1 known silent c.330 p.L110 1 pfam_Thioredoxin_domain,pfam_Calsequestrin,superfamily_Thioredoxin-like_fold pfam_Thioredoxin_domain,pfam_Calsequestrin,superfamily_Thioredoxin-like_fold 0 no_errors 0 0 0 51 0 0 7 38 84.44 204 0 0.00 50 132 72.53 FAM69B 0 genome.wustl.edu 37 9 139616628 139616628 + Missense_Mutation SNP G G C TCGA-3S-A8YW-01A-11D-A423-09 TCGA-3S-A8YW-10A-01D-A426-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 67b5676a-84a1-44fb-9301-b962911b7f93 b9e36959-d9a1-43d8-a24f-c35495eb6d7a 9 139616628 139616628 G C SNP FAM69B ENST00000371692 human ensembl 74_37 1 known missense c.358 p.E120Q 0.003 NULL pfam_FAM69_kinase_dom 0 no_errors 0 0 0 70 0 0 26 21 44.68 123 0 0.00 49 28 36.36 ARMC4 0 genome.wustl.edu 37 10 28233763 28233763 + Silent SNP G G A TCGA-3S-A8YW-01A-11D-A423-09 TCGA-3S-A8YW-10A-01D-A426-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 67b5676a-84a1-44fb-9301-b962911b7f93 b9e36959-d9a1-43d8-a24f-c35495eb6d7a 10 28233763 28233763 G A SNP ARMC4 ENST00000305242 human ensembl 74_37 -1 known silent c.1515 p.T505 0.001 superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,superfamily_GSKIP_dom,smart_Armadillo,pfscan_Armadillo 0 no_errors rs369884669 G->A 0 52 0 0 52 21 28.77 249 0 0.00 200 76 27.54 KIF18A 0 genome.wustl.edu 37 11 28106202 28106202 + Missense_Mutation SNP G G A TCGA-3S-A8YW-01A-11D-A423-09 TCGA-3S-A8YW-10A-01D-A426-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 67b5676a-84a1-44fb-9301-b962911b7f93 b9e36959-d9a1-43d8-a24f-c35495eb6d7a 11 28106202 28106202 G A SNP KIF18A ENST00000263181 human ensembl 74_37 -1 known missense c.1051 p.R351W 1 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom 0 no_errors rs151125849 G->A 0.9996,0.0003994 41 0 0 25 18 41.86 194 0 0.00 190 66 25.68 NTF3 0 genome.wustl.edu 37 12 5603798 5603798 + Missense_Mutation SNP G G A TCGA-3S-A8YW-01A-11D-A423-09 TCGA-3S-A8YW-10A-01D-A426-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 67b5676a-84a1-44fb-9301-b962911b7f93 b9e36959-d9a1-43d8-a24f-c35495eb6d7a 12 5603798 5603798 G A SNP NTF3 ENST00000423158 human ensembl 74_37 1 known missense c.457 p.A153T 0.993 pirsf_Nerve_growth_factor-like pfam_Nerve_growth_factor-rel,smart_Nerve_growth_factor-rel,pirsf_Nerve_growth_factor-like,pfscan_Nerve_growth_factor-rel,prints_Nerve_growth_factor-rel,prints_Neurotrophin-3 0 no_errors 0 0 0 50 0 0 43 16 26.67 124 0 0.00 183 33 15.21 NANOGP1 0 genome.wustl.edu 37 12 8051634 8051634 + RNA SNP C C T TCGA-3S-A8YW-01A-11D-A423-09 TCGA-3S-A8YW-10A-01D-A426-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 67b5676a-84a1-44fb-9301-b962911b7f93 b9e36959-d9a1-43d8-a24f-c35495eb6d7a 12 8051634 8051634 C T SNP NANOGP1 ENST00000607111 human ensembl 74_37 1 known rna NULL NULL 0 0 0 0 no_errors 0 0 0 39 0 0 59 12 16.9 23 0 0.00 38 7 15.56 TPCN1 0 genome.wustl.edu 37 12 113733834 113733834 + Missense_Mutation SNP G G A TCGA-3S-A8YW-01A-11D-A423-09 TCGA-3S-A8YW-10A-01D-A426-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 67b5676a-84a1-44fb-9301-b962911b7f93 b9e36959-d9a1-43d8-a24f-c35495eb6d7a 12 113733834 113733834 G A SNP TPCN1 ENST00000541517 human ensembl 74_37 1 known missense c.2620 p.A874T 0 NULL pfam_Ion_trans_dom 0 no_errors 0 0 0 39 0 0 43 23 34.85 47 0 0.00 61 30 32.97 TPCN1 0 genome.wustl.edu 37 12 113733835 113733835 + Missense_Mutation SNP C C T TCGA-3S-A8YW-01A-11D-A423-09 TCGA-3S-A8YW-10A-01D-A426-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 67b5676a-84a1-44fb-9301-b962911b7f93 b9e36959-d9a1-43d8-a24f-c35495eb6d7a 12 113733835 113733835 C T SNP TPCN1 ENST00000541517 human ensembl 74_37 1 known missense c.2621 p.A874V 0.792 NULL pfam_Ion_trans_dom 0 no_errors 0 0 0 39 0 0 45 24 34.78 47 0 0.00 60 30 33.33 DNAH10 0 genome.wustl.edu 37 12 124408355 124408355 + Missense_Mutation SNP T T A TCGA-3S-A8YW-01A-11D-A423-09 TCGA-3S-A8YW-10A-01D-A426-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 67b5676a-84a1-44fb-9301-b962911b7f93 b9e36959-d9a1-43d8-a24f-c35495eb6d7a 12 124408355 124408355 T A SNP DNAH10 ENST00000409039 human ensembl 74_37 1 known missense c.11198 p.I3733N 1 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_PyrdxlP-dep_Trfase,smart_AAA+_ATPase 0 no_errors 0 0 0 63 0 0 118 13 9.92 229 0 0.00 314 62 16.49 FAM179B 0 genome.wustl.edu 37 14 45433576 45433576 + Missense_Mutation SNP G G T TCGA-3S-A8YW-01A-11D-A423-09 TCGA-3S-A8YW-10A-01D-A426-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 67b5676a-84a1-44fb-9301-b962911b7f93 b9e36959-d9a1-43d8-a24f-c35495eb6d7a 14 45433576 45433576 G T SNP FAM179B ENST00000361577 human ensembl 74_37 1 known missense c.1952 p.S651I 1 superfamily_ARM-type_fold superfamily_ARM-type_fold 0 no_errors 0 0 0 31 0 0 39 11 22 215 0 0.00 189 74 28.03 ATP10A 0 genome.wustl.edu 37 15 25924583 25924583 + Missense_Mutation SNP G G A TCGA-3S-A8YW-01A-11D-A423-09 TCGA-3S-A8YW-10A-01D-A426-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 67b5676a-84a1-44fb-9301-b962911b7f93 b9e36959-d9a1-43d8-a24f-c35495eb6d7a 15 25924583 25924583 G A SNP ATP10A ENST00000356865 human ensembl 74_37 -1 known missense c.4405 p.R1469C 0.001 NULL pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase 0 no_errors rs147041252 G->A 0.9998,0.0001997 64 0 0 43 13 23.21 85 0 0.00 88 27 23.48 OCA2 0 genome.wustl.edu 37 15 28263684 28263684 + Silent SNP G G A TCGA-3S-A8YW-01A-11D-A423-09 TCGA-3S-A8YW-10A-01D-A426-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 67b5676a-84a1-44fb-9301-b962911b7f93 b9e36959-d9a1-43d8-a24f-c35495eb6d7a 15 28263684 28263684 G A SNP OCA2 ENST00000354638 human ensembl 74_37 -1 known silent c.666 p.H222 0 NULL pfam_Cit_transptr-like_dom,pfam_Na/sul_symport,pfam_Arsenical_pump_ArsB,tigrfam_Arsenical_pump_ArsB 0 no_errors 0 0 0 71 0 0 70 13 15.66 58 0 0.00 43 8 15.69 CCDC144CP 0 genome.wustl.edu 37 17 20243264 20243264 + RNA SNP G G A TCGA-3S-A8YW-01A-11D-A423-09 TCGA-3S-A8YW-10A-01D-A426-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 67b5676a-84a1-44fb-9301-b962911b7f93 b9e36959-d9a1-43d8-a24f-c35495eb6d7a 17 20243264 20243264 G A SNP CCDC144CP ENST00000580574 human ensembl 74_37 1 known rna NULL NULL 0.004 0 0 0 no_errors 0 0 0 245 0 0 125 234 65.18 147 0 0.00 81 152 65.24 TEX14 0 genome.wustl.edu 37 17 56663351 56663351 + Missense_Mutation SNP C C T TCGA-3S-A8YW-01A-11D-A423-09 TCGA-3S-A8YW-10A-01D-A426-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 67b5676a-84a1-44fb-9301-b962911b7f93 b9e36959-d9a1-43d8-a24f-c35495eb6d7a 17 56663351 56663351 C T SNP TEX14 ENST00000240361 human ensembl 74_37 -1 known missense c.2899 p.A967T 0.144 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom 0 no_errors 0 0 0 67 0 0 42 53 55.79 133 0 0.00 70 110 61.11 DSG3 0 genome.wustl.edu 37 18 29045307 29045307 + Missense_Mutation SNP G G C TCGA-3S-A8YW-01A-11D-A423-09 TCGA-3S-A8YW-10A-01D-A426-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 67b5676a-84a1-44fb-9301-b962911b7f93 b9e36959-d9a1-43d8-a24f-c35495eb6d7a 18 29045307 29045307 G C SNP DSG3 ENST00000257189 human ensembl 74_37 1 known missense c.1298 p.G433A 0.998 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmosomal_cadherin 0 no_errors 0 0 0 110 0 0 140 13 8.5 285 0 0.00 365 43 10.51 RNF138 0 genome.wustl.edu 37 18 29706742 29706742 + Silent SNP A A G TCGA-3S-A8YW-01A-11D-A423-09 TCGA-3S-A8YW-10A-01D-A426-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 67b5676a-84a1-44fb-9301-b962911b7f93 b9e36959-d9a1-43d8-a24f-c35495eb6d7a 18 29706742 29706742 A G SNP RNF138 ENST00000261593 human ensembl 74_37 1 known silent c.648 p.Q216 1 NULL pfam_Znf_MIZ,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING 0 no_errors 0 0 0 120 0 0 151 38 20.11 190 0 0.00 261 79 23.24 ZNF730 0 genome.wustl.edu 37 19 23329318 23329318 + Missense_Mutation SNP G G A TCGA-3S-A8YW-01A-11D-A423-09 TCGA-3S-A8YW-10A-01D-A426-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 67b5676a-84a1-44fb-9301-b962911b7f93 b9e36959-d9a1-43d8-a24f-c35495eb6d7a 19 23329318 23329318 G A SNP ZNF730 ENST00000597761 human ensembl 74_37 1 known missense c.1472 p.R491Q 0 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box 0 no_errors 0 0 0 59 0 0 30 38 55.88 212 0 0.00 65 123 65.43 FFAR3 0 genome.wustl.edu 37 19 35849879 35849879 + Silent SNP C C T TCGA-3S-A8YW-01A-11D-A423-09 TCGA-3S-A8YW-10A-01D-A426-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 67b5676a-84a1-44fb-9301-b962911b7f93 b9e36959-d9a1-43d8-a24f-c35495eb6d7a 19 35849879 35849879 C T SNP FFAR3 ENST00000327809 human ensembl 74_37 1 known silent c.87 p.L29 0.89 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_GPR40-rel_orph 0 no_errors 0 0 0 85 0 0 61 11 15.28 126 0 0.00 93 15 13.89 RYR1 0 genome.wustl.edu 37 19 39075660 39075660 + Silent SNP C C T TCGA-3S-A8YW-01A-11D-A423-09 TCGA-3S-A8YW-10A-01D-A426-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 67b5676a-84a1-44fb-9301-b962911b7f93 b9e36959-d9a1-43d8-a24f-c35495eb6d7a 19 39075660 39075660 C T SNP RYR1 ENST00000359596 human ensembl 74_37 1 known silent c.14724 p.D4908 0.992 pfam_Ion_trans_dom pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif 0 no_errors 0 0 0 79 0 0 39 22 36.07 220 0 0.00 136 39 22.29 ESF1 0 genome.wustl.edu 37 20 13753210 13753210 + Missense_Mutation SNP C C T TCGA-3S-A8YW-01A-11D-A423-09 TCGA-3S-A8YW-10A-01D-A426-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 67b5676a-84a1-44fb-9301-b962911b7f93 b9e36959-d9a1-43d8-a24f-c35495eb6d7a 20 13753210 13753210 C T SNP ESF1 ENST00000202816 human ensembl 74_37 -1 known missense c.1201 p.G401R 1 NULL pfam_NUC153 0 no_errors 0 0 0 35 0 0 32 12 27.27 210 0 0.00 192 96 33.33 LAMA5 0 genome.wustl.edu 37 20 60895897 60895897 + Silent SNP G G A TCGA-3S-A8YW-01A-11D-A423-09 TCGA-3S-A8YW-10A-01D-A426-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 67b5676a-84a1-44fb-9301-b962911b7f93 b9e36959-d9a1-43d8-a24f-c35495eb6d7a 20 60895897 60895897 G A SNP LAMA5 ENST00000252999 human ensembl 74_37 -1 known silent c.6546 p.G2182 0 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 0 no_errors 0 0 0 67 0 0 25 23 46.94 60 0 0.00 20 30 60.00 CDKN2A 0 genome.wustl.edu 37 9 21974777 21974780 + Frame_Shift_Del DEL GCCA GCCA - TCGA-3S-A8YW-01A-11D-A423-09 TCGA-3S-A8YW-10A-01D-A426-09 GCCA GCCA GCCA - GCCA GCCA Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 67b5676a-84a1-44fb-9301-b962911b7f93 b9e36959-d9a1-43d8-a24f-c35495eb6d7a 9 21974777 21974780 GCCA 0 DEL CDKN2A ENST00000446177 human ensembl 74_37 -1 known frame_shift_del c.50_47 p.L16fs 0.001:0.000:0.027:0.068 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom 0 no_errors rs587782206 GGCCA->G 0 37 0 0 6 16 72.73 71 0 0.00 25 18 41.86 TP53 0 genome.wustl.edu 37 17 7577096 7577096 + Frame_Shift_Del DEL T T - TCGA-3S-A8YW-01A-11D-A423-09 TCGA-3S-A8YW-10A-01D-A426-09 T T T - T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 67b5676a-84a1-44fb-9301-b962911b7f93 b9e36959-d9a1-43d8-a24f-c35495eb6d7a 17 7577096 7577096 T 0 DEL TP53 ENST00000269305 human ensembl 74_37 -1 known frame_shift_del c.842 p.D281fs 1 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 0 no_errors 0 0 0 41 0 0 8 36 81.82 222 0 0.00 37 100 72.99 EFCAB2 0 genome.wustl.edu 37 1 245285221 245285221 + Splice_Site SNP G G T TCGA-3S-A8YW-01A-11D-A423-09 TCGA-3S-A8YW-10A-01D-A426-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67b5676a-84a1-44fb-9301-b962911b7f93 b9e36959-d9a1-43d8-a24f-c35495eb6d7a 1 245285221 245285221 G T SNP EFCAB2 ENST00000366522 human ensembl 74_37 1 known splice_site c.782-1 e8-1 0.009 0 0 0 no_errors 0 0 0 8 0 0 20 4 16.67 0 0 0.00 0 0 0.00 RABL6 0 genome.wustl.edu 37 9 139731851 139731851 + Missense_Mutation SNP C C T TCGA-3S-A8YW-01A-11D-A423-09 TCGA-3S-A8YW-10A-01D-A426-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67b5676a-84a1-44fb-9301-b962911b7f93 b9e36959-d9a1-43d8-a24f-c35495eb6d7a 9 139731851 139731851 C T SNP RABL6 ENST00000371663 human ensembl 74_37 1 known missense c.866 p.A289V 0.98 NULL pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Rab_type,prints_Small_GTPase 0 no_errors 0 0 0 77 0 0 41 4 8.89 13 0 0.00 3 0 0.00 ENSG00000223180 0 genome.wustl.edu 37 15 84284968 84284968 + RNA SNP T T G TCGA-3S-A8YW-01A-11D-A423-09 TCGA-3S-A8YW-10A-01D-A426-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67b5676a-84a1-44fb-9301-b962911b7f93 b9e36959-d9a1-43d8-a24f-c35495eb6d7a 15 84284968 84284968 T G SNP ENSG00000223180 ENST00000411248 human ensembl 74_37 1 novel rna NULL NULL 0.008 0 0 0 no_errors 0 0 0 47 0 0 37 44 54.32 0 0 0.00 0 0 0.00 NPIPA2 0 genome.wustl.edu 37 16 14859247 14859247 + Missense_Mutation SNP C C T TCGA-3S-A8YW-01A-11D-A423-09 TCGA-3S-A8YW-10A-01D-A426-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67b5676a-84a1-44fb-9301-b962911b7f93 b9e36959-d9a1-43d8-a24f-c35495eb6d7a 16 14859247 14859247 C T SNP NPIPA2 ENST00000529166 human ensembl 74_37 1 novel missense c.1087 p.R363W 0.065 NULL NULL 0 no_errors 0 0 0 33 1 2.86 80 8 9.09 0 0 0.00 0 0 0.00 KRTAP9-7 0 genome.wustl.edu 37 17 39432066 39432066 + Silent SNP G G T TCGA-3S-A8YW-01A-11D-A423-09 TCGA-3S-A8YW-10A-01D-A426-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67b5676a-84a1-44fb-9301-b962911b7f93 b9e36959-d9a1-43d8-a24f-c35495eb6d7a 17 39432066 39432066 G T SNP KRTAP9-7 ENST00000391354 human ensembl 74_37 1 known silent c.117 p.V39 0 NULL NULL 0 no_errors 0 0 0 70 0 0 136 18 11.69 0 0 0.00 0 0 0.00 AHDC1 0 genome.wustl.edu 37 1 27878369 27878370 + Frame_Shift_Ins INS - - G TCGA-3S-A8YW-01A-11D-A423-09 TCGA-3S-A8YW-10A-01D-A426-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67b5676a-84a1-44fb-9301-b962911b7f93 b9e36959-d9a1-43d8-a24f-c35495eb6d7a 1 27878369 27878370 0 G INS AHDC1 ENST00000247087 human ensembl 74_37 -1 known frame_shift_ins c.258_257 p.R87fs 0.012:0.992 NULL NULL 0 no_errors 0 0 0 21 0 0 4 2 33.33 16 0 0.00 8 0 0.00 PTPRZ1 0 genome.wustl.edu 37 7 121513383 121513384 + RNA DEL CA CA - TCGA-3S-A8YW-01A-11D-A423-09 TCGA-3S-A8YW-10A-01D-A426-09 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67b5676a-84a1-44fb-9301-b962911b7f93 b9e36959-d9a1-43d8-a24f-c35495eb6d7a 7 121513383 121513384 CA 0 DEL PTPRZ1 ENST00000471837 human ensembl 74_37 1 known rna NULL NULL 0.002:0.001 0 0 0 no_errors rs386360108 TCA->T 0 9 1 10 9 9 50 0 0 0.00 0 0 0.00 MCM3AP-AS1 0 genome.wustl.edu 37 21 47662899 47662900 + RNA INS - - A TCGA-3S-A8YW-01A-11D-A423-09 TCGA-3S-A8YW-10A-01D-A426-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67b5676a-84a1-44fb-9301-b962911b7f93 b9e36959-d9a1-43d8-a24f-c35495eb6d7a 21 47662899 47662900 0 A INS MCM3AP-AS1 ENST00000421927 human ensembl 74_37 1 known rna NULL NULL 0.000:0.000 0 0 0 no_errors 0 0 0 21 0 0 8 4 33.33 0 0 0.00 0 0 0.00