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 EIF3S9 8662 genome.wustl.edu 36 7 2386554 2386554 + Missense_Mutation SNP G G A novel unknown TCGA-29-1705-01A-01W-0633-09 TCGA-29-1705-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d8379cd3-78f6-478c-a4bc-d4b3e72aa01c 7ed7a0dc-81fa-498f-b03c-a39217bdf5b3 7 2386554 2386554 G A SNP EIF3S9 ENST00000314800 human ensembl 54_36p +1 known missense c.2570 p.R857Q 0.613 NULL superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1,superfamily_Dipeptidyl peptidase IV/CD26 N-terminal domain,HMMPfam_eIF2A - no_errors CREBBP 1387 genome.wustl.edu 36 16 3783434 3783434 + Missense_Mutation SNP G G C novel unknown TCGA-29-1705-01A-01W-0633-09 TCGA-29-1705-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d8379cd3-78f6-478c-a4bc-d4b3e72aa01c 7ed7a0dc-81fa-498f-b03c-a39217bdf5b3 16 3783434 3783434 G C SNP CREBBP NM_004380 human genbank 54_36p -1 reviewed missense c.1170 p.N390K 0.990 superfamily_TAZ_finger,HMMPfam_zf-TAZ,HMMSmart_ZnF_TAZ superfamily_TAZ_finger,HMMPfam_zf-TAZ,HMMSmart_ZnF_TAZ,HMMPfam_KIX,superfamily_KIX,superfamily_Bromodomain,HMMSmart_BROMO,HMMPfam_Bromodomain,PatternScan_BROMODOMAIN_1,HMMPfam_DUF902,HMMPfam_DUF906,HMMPfam_ZZ,HMMSmart_ZnF_ZZ,PatternScan_ZF_ZZ_1,HMMPfam_Creb_binding,superfamily_Nuc_recept_coact - no_errors PTPRS 5802 genome.wustl.edu 36 19 5237106 5237106 + Missense_Mutation SNP T C C novel unknown TCGA-29-1705-01A-01W-0633-09 TCGA-29-1705-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d8379cd3-78f6-478c-a4bc-d4b3e72aa01c 7ed7a0dc-81fa-498f-b03c-a39217bdf5b3 19 5237106 5237106 T C SNP PTPRS NM_002850 human genbank 54_36p -1 reviewed missense c.46 p.M16V 0.159 NULL superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3,superfamily_(Phosphotyrosine protein) phosphatases II,HMMSmart_SM00194,HMMPfam_Y_phosphatase,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1 - no_errors TP53 7157 genome.wustl.edu 36 17 7520083 7520083 + Missense_Mutation SNP C C A rs11540654 unknown TCGA-29-1705-01A-01W-0633-09 TCGA-29-1705-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d8379cd3-78f6-478c-a4bc-d4b3e72aa01c 7ed7a0dc-81fa-498f-b03c-a39217bdf5b3 17 7520083 7520083 C A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.329 p.R110L 0.018 HMMPfam_P53,superfamily_p53-like transcription factors HMMPfam_P53_TAD,HMMPfam_P53,superfamily_p53-like transcription factors,PatternScan_P53,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain - no_errors DENND5A 23258 genome.wustl.edu 36 11 9156341 9156341 + Missense_Mutation SNP C C T novel unknown TCGA-29-1705-01A-01W-0633-09 TCGA-29-1705-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d8379cd3-78f6-478c-a4bc-d4b3e72aa01c 7ed7a0dc-81fa-498f-b03c-a39217bdf5b3 11 9156341 9156341 C T SNP DENND5A NM_015213 human genbank 54_36p -1 validated missense c.1820 p.R607Q 1.000 NULL HMMPfam_uDENN,HMMSmart_SM00800,HMMPfam_DENN,HMMSmart_SM00799,HMMPfam_dDENN,HMMSmart_SM00801,HMMPfam_RUN,HMMSmart_SM00593,superfamily_Lipase/lipooxygenase domain (PLAT/LH2 domain),HMMPfam_PLAT - no_errors PRAMEF1 65121 genome.wustl.edu 36 1 12778699 12778699 + Silent SNP G G A novel unknown TCGA-29-1705-01A-01W-0633-09 TCGA-29-1705-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d8379cd3-78f6-478c-a4bc-d4b3e72aa01c 7ed7a0dc-81fa-498f-b03c-a39217bdf5b3 1 12778699 12778699 G A SNP PRAMEF1 NM_023013 human genbank 54_36p +1 provisional silent c.1392 p.P464 0.000 NULL superfamily_SSF52047 - no_errors PRAMEF2 65122 genome.wustl.edu 36 1 12844188 12844188 + Silent SNP G G A novel unknown TCGA-29-1705-01A-01W-0633-09 TCGA-29-1705-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d8379cd3-78f6-478c-a4bc-d4b3e72aa01c 7ed7a0dc-81fa-498f-b03c-a39217bdf5b3 1 12844188 12844188 G A SNP PRAMEF2 NM_023014 human genbank 54_36p +1 provisional silent c.1392 p.P464 0.000 NULL superfamily_SSF52047 - no_errors TRDMT1 1787 genome.wustl.edu 36 10 17241177 17241177 + Missense_Mutation SNP G G A novel unknown TCGA-29-1705-01A-01W-0633-09 TCGA-29-1705-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d8379cd3-78f6-478c-a4bc-d4b3e72aa01c 7ed7a0dc-81fa-498f-b03c-a39217bdf5b3 10 17241177 17241177 G A SNP TRDMT1 NM_004412 human genbank 54_36p -1 reviewed missense c.517 p.P173S 0.779 superfamily_S-adenosyl-L-methionine-dependent methyltransferases superfamily_S-adenosyl-L-methionine-dependent methyltransferases,HMMPfam_DNA_methylase,PatternScan_C5_MTASE_2 - no_errors LAMA3 3909 genome.wustl.edu 36 18 19783727 19783727 + Missense_Mutation SNP A A G novel unknown TCGA-29-1705-01A-01W-0633-09 TCGA-29-1705-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d8379cd3-78f6-478c-a4bc-d4b3e72aa01c 7ed7a0dc-81fa-498f-b03c-a39217bdf5b3 18 19783727 19783727 A G SNP LAMA3 NM_198129 human genbank 54_36p +1 reviewed missense c.9352 p.S3118G 0.989 superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00282,HMMPfam_Laminin_G_2 HMMSmart_SM00136,HMMPfam_Laminin_N,superfamily_Galactose-binding domain-like,HMMPfam_Laminin_EGF,HMMSmart_SM00180,superfamily_EGF/Laminin,PatternScan_EGF_1,PatternScan_EGF_LAM_1,HMMSmart_SM00181,HMMSmart_SM00281,HMMPfam_Laminin_B,PatternScan_EGF_2,HMMPfam_Laminin_I,HMMPfam_Laminin_II,superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00282,HMMPfam_Laminin_G_2,PatternScan_CHAPERONINS_CPN60 - no_errors HTATIP2 10553 genome.wustl.edu 36 11 20342378 20342378 + Missense_Mutation SNP C C A novel unknown TCGA-29-1705-01A-01W-0633-09 TCGA-29-1705-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d8379cd3-78f6-478c-a4bc-d4b3e72aa01c 7ed7a0dc-81fa-498f-b03c-a39217bdf5b3 11 20342378 20342378 C A SNP HTATIP2 NM_001098520 human genbank 54_36p +1 validated missense c.121 p.L41M 0.513 NULL superfamily_NAD(P)-binding Rossmann-fold domains - no_errors LOC256223 256223 genome.wustl.edu 36 17 20423821 20423821 + Nonsense_Mutation SNP G A A novel unknown TCGA-29-1705-01A-01W-0633-09 TCGA-29-1705-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d8379cd3-78f6-478c-a4bc-d4b3e72aa01c 7ed7a0dc-81fa-498f-b03c-a39217bdf5b3 17 20423821 20423821 G A SNP LOC256223 XM_170840 human genbank 54_36p +1 model nonsense c.99 p.W33* 0.000 NULL NULL - no_errors HIST1H2AD 3013 genome.wustl.edu 36 6 26307340 26307340 + Silent SNP C C T novel unknown TCGA-29-1705-01A-01W-0633-09 TCGA-29-1705-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d8379cd3-78f6-478c-a4bc-d4b3e72aa01c 7ed7a0dc-81fa-498f-b03c-a39217bdf5b3 6 26307340 26307340 C T SNP HIST1H2AD NM_021065 human genbank 54_36p -1 reviewed silent c.111 p.K37 1.000 superfamily_Histone-fold,HMMSmart_H2A,HMMPfam_Histone superfamily_Histone-fold,HMMSmart_H2A,HMMPfam_Histone,PatternScan_HISTONE_H2A - no_errors TIAM1 7074 genome.wustl.edu 36 21 31539812 31539812 + Missense_Mutation SNP A A C novel unknown TCGA-29-1705-01A-01W-0633-09 TCGA-29-1705-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d8379cd3-78f6-478c-a4bc-d4b3e72aa01c 7ed7a0dc-81fa-498f-b03c-a39217bdf5b3 21 31539812 31539812 A C SNP TIAM1 NM_003253 human genbank 54_36p -1 validated missense c.1447 p.S483A 1.000 superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH,HMMPfam_RBD,HMMSmart_RBD,superfamily_PDZ,HMMPfam_PDZ,HMMSmart_PDZ,superfamily_DH-domain,HMMPfam_RhoGEF,HMMSmart_RhoGEF,PatternScan_DH_1 - no_errors C20orf117 140710 genome.wustl.edu 36 20 34867692 34867692 + Missense_Mutation SNP C C G novel unknown TCGA-29-1705-01A-01W-0633-09 TCGA-29-1705-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d8379cd3-78f6-478c-a4bc-d4b3e72aa01c 7ed7a0dc-81fa-498f-b03c-a39217bdf5b3 20 34867692 34867692 C G SNP C20orf117 NM_199181 human genbank 54_36p -1 predicted missense c.2183 p.G728A 0.972 NULL NULL - no_errors FGD2 221472 genome.wustl.edu 36 6 37087600 37087600 + Silent SNP G G C novel unknown TCGA-29-1705-01A-01W-0633-09 TCGA-29-1705-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d8379cd3-78f6-478c-a4bc-d4b3e72aa01c 7ed7a0dc-81fa-498f-b03c-a39217bdf5b3 6 37087600 37087600 G C SNP FGD2 NM_173558 human genbank 54_36p +1 validated silent c.519 p.L173 1.000 superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325 superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,HMMSmart_SM00064,HMMPfam_FYVE,superfamily_FYVE/PHD zinc finger - no_errors LRFN2 57497 genome.wustl.edu 36 6 40508018 40508018 + Silent SNP G G T novel unknown TCGA-29-1705-01A-01W-0633-09 TCGA-29-1705-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d8379cd3-78f6-478c-a4bc-d4b3e72aa01c 7ed7a0dc-81fa-498f-b03c-a39217bdf5b3 6 40508018 40508018 G T SNP LRFN2 NM_020737 human genbank 54_36p -1 provisional silent c.813 p.L271 0.995 superfamily_L domain-like,HMMSmart_SM00082 superfamily_L domain-like,HMMSmart_SM00369,HMMPfam_LRR_1,HMMSmart_SM00082,superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_fn3,superfamily_Fibronectin type III - no_errors ZNF295 49854 genome.wustl.edu 36 21 42284523 42284523 + Missense_Mutation SNP C C T novel unknown TCGA-29-1705-01A-01W-0633-09 TCGA-29-1705-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d8379cd3-78f6-478c-a4bc-d4b3e72aa01c 7ed7a0dc-81fa-498f-b03c-a39217bdf5b3 21 42284523 42284523 C T SNP ZNF295 NM_001098402 human genbank 54_36p -1 validated missense c.2751 p.M917I 0.986 superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,HMMPfam_zf-C2H2 superfamily_POZ domain,HMMPfam_BTB,HMMSmart_SM00225,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1 - no_errors LRPPRC 10128 genome.wustl.edu 36 2 44028779 44028779 + Missense_Mutation SNP G G C novel unknown TCGA-29-1705-01A-01W-0633-09 TCGA-29-1705-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d8379cd3-78f6-478c-a4bc-d4b3e72aa01c 7ed7a0dc-81fa-498f-b03c-a39217bdf5b3 2 44028779 44028779 G C SNP LRPPRC NM_133259 human genbank 54_36p -1 reviewed missense c.1906 p.P636A 1.000 NULL superfamily_SSF48452,HMMPfam_PPR - no_errors ADARB1 104 genome.wustl.edu 36 21 45420911 45420911 + Silent SNP G G A novel unknown TCGA-29-1705-01A-01W-0633-09 TCGA-29-1705-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d8379cd3-78f6-478c-a4bc-d4b3e72aa01c 7ed7a0dc-81fa-498f-b03c-a39217bdf5b3 21 45420911 45420911 G A SNP ADARB1 NM_015833 human genbank 54_36p +1 reviewed silent c.867 p.A289 0.307 superfamily_dsRNA-binding domain-like,HMMPfam_dsrm,HMMSmart_SM00358 superfamily_dsRNA-binding domain-like,HMMPfam_dsrm,HMMSmart_SM00358,HMMSmart_SM00552,HMMPfam_A_deamin,superfamily_Cytokine - no_errors TUBGCP6 85378 genome.wustl.edu 36 22 49005133 49005133 + Missense_Mutation SNP T T C novel unknown TCGA-29-1705-01A-01W-0633-09 TCGA-29-1705-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d8379cd3-78f6-478c-a4bc-d4b3e72aa01c 7ed7a0dc-81fa-498f-b03c-a39217bdf5b3 22 49005133 49005133 T C SNP TUBGCP6 NM_020461 human genbank 54_36p -1 reviewed missense c.1999 p.I667V 1.000 HMMPfam_Spc97_Spc98 HMMPfam_Spc97_Spc98 - no_errors PPP1R3F 89801 genome.wustl.edu 36 X 49030064 49030064 + Silent SNP T C C novel unknown TCGA-29-1705-01A-01W-0633-09 TCGA-29-1705-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d8379cd3-78f6-478c-a4bc-d4b3e72aa01c 7ed7a0dc-81fa-498f-b03c-a39217bdf5b3 X 49030064 49030064 T C SNP PPP1R3F NM_033215 human genbank 54_36p +1 validated silent c.1968 p.N656 0.004 NULL HMMPfam_CBM_21 - no_errors ZNF283 284349 genome.wustl.edu 36 19 49044324 49044324 + Silent SNP G G A novel unknown TCGA-29-1705-01A-01W-0633-09 TCGA-29-1705-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d8379cd3-78f6-478c-a4bc-d4b3e72aa01c 7ed7a0dc-81fa-498f-b03c-a39217bdf5b3 19 49044324 49044324 G A SNP ZNF283 NM_181845 human genbank 54_36p +1 validated silent c.1731 p.G577 1.000 superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1 superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1 - no_errors GLDN 342035 genome.wustl.edu 36 15 49463356 49463356 + Silent SNP A A G novel unknown TCGA-29-1705-01A-01W-0633-09 TCGA-29-1705-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d8379cd3-78f6-478c-a4bc-d4b3e72aa01c 7ed7a0dc-81fa-498f-b03c-a39217bdf5b3 15 49463356 49463356 A G SNP GLDN NM_181789 human genbank 54_36p +1 validated silent c.516 p.G172 0.997 HMMPfam_Collagen HMMPfam_Collagen,HMMPfam_OLF,HMMSmart_SM00284 - no_errors SALL1 6299 genome.wustl.edu 36 16 49730950 49730950 + Missense_Mutation SNP C C A novel unknown TCGA-29-1705-01A-01W-0633-09 TCGA-29-1705-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d8379cd3-78f6-478c-a4bc-d4b3e72aa01c 7ed7a0dc-81fa-498f-b03c-a39217bdf5b3 16 49730950 49730950 C A SNP SALL1 NM_002968 human genbank 54_36p -1 reviewed missense c.2684 p.G895V 1.000 NULL HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,superfamily_C2H2 and C2HC zinc fingers - no_errors SULT2B1 6820 genome.wustl.edu 36 19 53770986 53770986 + Missense_Mutation SNP G G T novel unknown TCGA-29-1705-01A-01W-0633-09 TCGA-29-1705-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d8379cd3-78f6-478c-a4bc-d4b3e72aa01c 7ed7a0dc-81fa-498f-b03c-a39217bdf5b3 19 53770986 53770986 G T SNP SULT2B1 NM_004605 human genbank 54_36p +1 reviewed missense c.3 p.M1I 0.001 NULL superfamily_SSF52540,HMMPfam_Sulfotransfer_1 - no_errors POLR2B 5431 genome.wustl.edu 36 4 57566337 57566337 + Missense_Mutation SNP T T A novel unknown TCGA-29-1705-01A-01W-0633-09 TCGA-29-1705-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d8379cd3-78f6-478c-a4bc-d4b3e72aa01c 7ed7a0dc-81fa-498f-b03c-a39217bdf5b3 4 57566337 57566337 T A SNP POLR2B NM_000938 human genbank 54_36p +1 reviewed missense c.1069 p.C357S 1.000 superfamily_beta and beta-prime subunits of DNA dependent RNA-polymerase,HMMPfam_RNA_pol_Rpb2_1,HMMPfam_RNA_pol_Rpb2_2 superfamily_beta and beta-prime subunits of DNA dependent RNA-polymerase,HMMPfam_RNA_pol_Rpb2_1,HMMPfam_RNA_pol_Rpb2_2,HMMPfam_RNA_pol_Rpb2_3,HMMPfam_RNA_pol_Rpb2_4,HMMPfam_RNA_pol_Rpb2_5,HMMPfam_RNA_pol_Rpb2_6,PatternScan_RNA_POL_BETA,HMMPfam_RNA_pol_Rpb2_7 - no_errors SERPINB4 6318 genome.wustl.edu 36 18 59461684 59461684 + Silent SNP T T C novel unknown TCGA-29-1705-01A-01W-0633-09 TCGA-29-1705-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d8379cd3-78f6-478c-a4bc-d4b3e72aa01c 7ed7a0dc-81fa-498f-b03c-a39217bdf5b3 18 59461684 59461684 T C SNP SERPINB4 NM_002974 human genbank 54_36p -1 validated silent c.108 p.S36 0.659 HMMPfam_Serpin,superfamily_Prot_inh_serpin,HMMSmart_SERPIN HMMPfam_Serpin,superfamily_Prot_inh_serpin,HMMSmart_SERPIN,PatternScan_SERPIN - no_errors PLEKHM1P 0 genome.wustl.edu 36 17 60227409 60227409 + Missense_Mutation SNP C G G novel unknown TCGA-29-1705-01A-01W-0633-09 TCGA-29-1705-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d8379cd3-78f6-478c-a4bc-d4b3e72aa01c 7ed7a0dc-81fa-498f-b03c-a39217bdf5b3 17 60227409 60227409 C G SNP PLEKHM1P ENST00000290422 human ensembl 54_36p -1 known missense c.93 p.E31D 1.000 superfamily_PH domain-like,HMMSmart_SM00233 superfamily_PH domain-like,HMMSmart_SM00233,HMMSmart_SM00109 - no_errors AHNAK 79026 genome.wustl.edu 36 11 62057859 62057859 + Silent SNP C C G novel unknown TCGA-29-1705-01A-01W-0633-09 TCGA-29-1705-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d8379cd3-78f6-478c-a4bc-d4b3e72aa01c 7ed7a0dc-81fa-498f-b03c-a39217bdf5b3 11 62057859 62057859 C G SNP AHNAK NM_001620 human genbank 54_36p -1 validated silent c.606 p.G202 0.932 NULL superfamily_PDZ,HMMPfam_PDZ,HMMSmart_PDZ,HMMPfam_CheC - no_errors CYP1A1 1543 genome.wustl.edu 36 15 72802433 72802433 + Missense_Mutation SNP C C A novel unknown TCGA-29-1705-01A-01W-0633-09 TCGA-29-1705-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d8379cd3-78f6-478c-a4bc-d4b3e72aa01c 7ed7a0dc-81fa-498f-b03c-a39217bdf5b3 15 72802433 72802433 C A SNP CYP1A1 NM_000499 human genbank 54_36p -1 reviewed missense c.59 p.C20F 1.000 NULL HMMPfam_p450,superfamily_Cytochrome P450,PatternScan_CYTOCHROME_P450 - no_errors EDIL3 10085 genome.wustl.edu 36 5 83275118 83275118 + Missense_Mutation SNP T T C novel unknown TCGA-29-1705-01A-01W-0633-09 TCGA-29-1705-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d8379cd3-78f6-478c-a4bc-d4b3e72aa01c 7ed7a0dc-81fa-498f-b03c-a39217bdf5b3 5 83275118 83275118 T C SNP EDIL3 NM_005711 human genbank 54_36p -1 reviewed missense c.1319 p.D440G 1.000 HMMSmart_SM00231,superfamily_Galactose-binding domain-like,HMMPfam_F5_F8_type_C superfamily_EGF/Laminin,HMMSmart_SM00179,HMMSmart_SM00181,HMMPfam_EGF,PatternScan_EGF_2,PatternScan_EGF_1,PatternScan_EGF_CA,PatternScan_ASX_HYDROXYL,HMMSmart_SM00231,superfamily_Galactose-binding domain-like,HMMPfam_F5_F8_type_C,PatternScan_FA58C_1,PatternScan_FA58C_2 - no_errors IGKC 3514 genome.wustl.edu 36 2 89197989 89197989 + Missense_Mutation SNP C C T novel unknown TCGA-29-1705-01A-01W-0633-09 TCGA-29-1705-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d8379cd3-78f6-478c-a4bc-d4b3e72aa01c 7ed7a0dc-81fa-498f-b03c-a39217bdf5b3 2 89197989 89197989 C T SNP IGKC ENST00000390254 human ensembl 54_36p -1 known missense c.310 p.D104N 1.000 HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00406 HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00406 - no_stop_codon:bad_bp_length_for_coding_region CRADD 8738 genome.wustl.edu 36 12 92596771 92596771 + Silent SNP C C G novel unknown TCGA-29-1705-01A-01W-0633-09 TCGA-29-1705-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d8379cd3-78f6-478c-a4bc-d4b3e72aa01c 7ed7a0dc-81fa-498f-b03c-a39217bdf5b3 12 92596771 92596771 C G SNP CRADD NM_003805 human genbank 54_36p +1 reviewed silent c.90 p.L30 0.969 HMMSmart_SM00114,superfamily_DEATH domain,HMMPfam_CARD HMMSmart_SM00114,superfamily_DEATH domain,HMMPfam_CARD,HMMSmart_SM00005,HMMPfam_Death,PatternScan_IG_MHC - no_errors RCOR1 23186 genome.wustl.edu 36 14 102258422 102258422 + Silent SNP T T G novel unknown TCGA-29-1705-01A-01W-0633-09 TCGA-29-1705-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d8379cd3-78f6-478c-a4bc-d4b3e72aa01c 7ed7a0dc-81fa-498f-b03c-a39217bdf5b3 14 102258422 102258422 T G SNP RCOR1 NM_015156 human genbank 54_36p +1 validated silent c.1326 p.G442 0.779 NULL HMMPfam_ELM2,superfamily_Homeodomain_like,HMMSmart_SANT,HMMPfam_Myb_DNA-binding - no_errors FGF8 2253 genome.wustl.edu 36 10 103520230 103520230 + Missense_Mutation SNP G G A novel unknown TCGA-29-1705-01A-01W-0633-09 TCGA-29-1705-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d8379cd3-78f6-478c-a4bc-d4b3e72aa01c 7ed7a0dc-81fa-498f-b03c-a39217bdf5b3 10 103520230 103520230 G A SNP FGF8 NM_033163 human genbank 54_36p -1 reviewed missense c.581 p.T194M 1.000 superfamily_Cytok_IL1_like,HMMSmart_FGF,HMMPfam_FGF superfamily_Cytok_IL1_like,HMMSmart_FGF,HMMPfam_FGF,PatternScan_HBGF_FGF - no_errors ORC5L 5001 genome.wustl.edu 36 7 103588840 103588840 + Silent SNP T T C novel unknown TCGA-29-1705-01A-01W-0633-09 TCGA-29-1705-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d8379cd3-78f6-478c-a4bc-d4b3e72aa01c 7ed7a0dc-81fa-498f-b03c-a39217bdf5b3 7 103588840 103588840 T C SNP ORC5L NM_002553 human genbank 54_36p -1 reviewed silent c.1065 p.K355 1.000 NULL superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors ZNF80 7634 genome.wustl.edu 36 3 115438288 115438288 + Silent SNP C C T novel unknown TCGA-29-1705-01A-01W-0633-09 TCGA-29-1705-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d8379cd3-78f6-478c-a4bc-d4b3e72aa01c 7ed7a0dc-81fa-498f-b03c-a39217bdf5b3 3 115438288 115438288 C T SNP ZNF80 NM_007136 human genbank 54_36p -1 validated silent c.324 p.V108 0.000 superfamily_SSF57667,HMMSmart_ZnF_C2H2 superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1 - no_errors DPP10 57628 genome.wustl.edu 36 2 116265358 116265358 + Silent SNP C C G novel unknown TCGA-29-1705-01A-01W-0633-09 TCGA-29-1705-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d8379cd3-78f6-478c-a4bc-d4b3e72aa01c 7ed7a0dc-81fa-498f-b03c-a39217bdf5b3 2 116265358 116265358 C G SNP DPP10 NM_020868 human genbank 54_36p +1 reviewed silent c.1656 p.P552 1.000 superfamily_alpha/beta-Hydrolases superfamily_Dipeptidyl peptidase IV/CD26 N-terminal domain,HMMPfam_DPPIV_N,superfamily_alpha/beta-Hydrolases,HMMPfam_Peptidase_S9 - no_errors FAM72B 653820 genome.wustl.edu 36 1 120647610 120647610 + Missense_Mutation SNP C C T novel unknown TCGA-29-1705-01A-01W-0633-09 TCGA-29-1705-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d8379cd3-78f6-478c-a4bc-d4b3e72aa01c 7ed7a0dc-81fa-498f-b03c-a39217bdf5b3 1 120647610 120647610 C T SNP FAM72B NM_001100910 human genbank 54_36p +1 predicted missense c.323 p.A108V 1.000 NULL NULL - no_errors ZHX2 22882 genome.wustl.edu 36 8 124034613 124034613 + Missense_Mutation SNP G G A novel unknown TCGA-29-1705-01A-01W-0633-09 TCGA-29-1705-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d8379cd3-78f6-478c-a4bc-d4b3e72aa01c 7ed7a0dc-81fa-498f-b03c-a39217bdf5b3 8 124034613 124034613 G A SNP ZHX2 NM_014943 human genbank 54_36p +1 reviewed missense c.1682 p.R561Q 0.046 superfamily_Homeodomain_like,HMMSmart_HOX,HMMPfam_Homeobox PatternScan_ZINC_FINGER_C2H2_1,PatternScan_HOMEOBOX_1,HMMSmart_ZnF_C2H2,superfamily_Homeodomain_like,HMMSmart_HOX,HMMPfam_Homeobox - no_errors OSBPL11 114885 genome.wustl.edu 36 3 126733498 126733498 + Missense_Mutation SNP T T C novel unknown TCGA-29-1705-01A-01W-0633-09 TCGA-29-1705-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d8379cd3-78f6-478c-a4bc-d4b3e72aa01c 7ed7a0dc-81fa-498f-b03c-a39217bdf5b3 3 126733498 126733498 T C SNP OSBPL11 NM_022776 human genbank 54_36p -1 reviewed missense c.2075 p.K692R 0.421 HMMPfam_Oxysterol_BP superfamily_PH domain-like,HMMSmart_SM00233,HMMPfam_PH,HMMPfam_Oxysterol_BP,PatternScan_OSBP - no_errors GAPVD1 26130 genome.wustl.edu 36 9 127107193 127107193 + Missense_Mutation SNP A A G novel unknown TCGA-29-1705-01A-01W-0633-09 TCGA-29-1705-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d8379cd3-78f6-478c-a4bc-d4b3e72aa01c 7ed7a0dc-81fa-498f-b03c-a39217bdf5b3 9 127107193 127107193 A G SNP GAPVD1 NM_015635 human genbank 54_36p +1 validated missense c.1060 p.T354A 1.000 superfamily_Rho_GAP superfamily_Rho_GAP,HMMPfam_RasGAP,superfamily_SSF109993,HMMSmart_VPS9,HMMPfam_VPS9 - no_errors BIN1 274 genome.wustl.edu 36 2 127544115 127544115 + Missense_Mutation SNP C C G novel unknown TCGA-29-1705-01A-01W-0633-09 TCGA-29-1705-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d8379cd3-78f6-478c-a4bc-d4b3e72aa01c 7ed7a0dc-81fa-498f-b03c-a39217bdf5b3 2 127544115 127544115 C G SNP BIN1 NM_139343 human genbank 54_36p -1 reviewed missense c.337 p.D113H 1.000 HMMSmart_SM00721,HMMPfam_BAR HMMSmart_SM00721,HMMPfam_BAR,superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326 - no_errors ADAM12 8038 genome.wustl.edu 36 10 127714738 127714738 + Silent SNP G G T novel unknown TCGA-29-1705-01A-01W-0633-09 TCGA-29-1705-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d8379cd3-78f6-478c-a4bc-d4b3e72aa01c 7ed7a0dc-81fa-498f-b03c-a39217bdf5b3 10 127714738 127714738 G T SNP ADAM12 NM_003474 human genbank 54_36p -1 reviewed silent c.2505 p.P835 1.000 NULL "HMMPfam_Pep_M12B_propep,superfamily_Metalloproteases (""zincins"") catalytic domain,HMMPfam_Reprolysin,HMMPfam_Disintegrin,HMMSmart_SM00050,superfamily_Blood coagulation inhibitor (disintegrin),PatternScan_DISINTEGRIN_1,HMMSmart_SM00608,HMMPfam_ADAM_CR,HMMPfam_EGF_2" - no_errors EXOC4 60412 genome.wustl.edu 36 7 133399816 133399816 + Missense_Mutation SNP G G A novel unknown TCGA-29-1705-01A-01W-0633-09 TCGA-29-1705-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d8379cd3-78f6-478c-a4bc-d4b3e72aa01c 7ed7a0dc-81fa-498f-b03c-a39217bdf5b3 7 133399816 133399816 G A SNP EXOC4 NM_021807 human genbank 54_36p +1 reviewed missense c.2920 p.V974I 0.990 NULL HMMPfam_Sec8_exocyst,PatternScan_DEAH_ATP_HELICASE - no_errors GTF3C4 9329 genome.wustl.edu 36 9 134544826 134544826 + Missense_Mutation SNP G G A novel unknown TCGA-29-1705-01A-01W-0633-09 TCGA-29-1705-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d8379cd3-78f6-478c-a4bc-d4b3e72aa01c 7ed7a0dc-81fa-498f-b03c-a39217bdf5b3 9 134544826 134544826 G A SNP GTF3C4 NM_012204 human genbank 54_36p +1 validated missense c.1999 p.E667K 1.000 NULL NULL - no_errors EPPK1 83481 genome.wustl.edu 36 8 145015184 145015184 + Missense_Mutation SNP C T T novel unknown TCGA-29-1705-01A-01W-0633-09 TCGA-29-1705-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d8379cd3-78f6-478c-a4bc-d4b3e72aa01c 7ed7a0dc-81fa-498f-b03c-a39217bdf5b3 8 145015184 145015184 C T SNP EPPK1 NM_031308 human genbank 54_36p -1 provisional missense c.4151 p.R1384Q 0.001 superfamily_Plakin repeat,HMMSmart_SM00250 HMMSmart_SM00250,superfamily_Plakin repeat,HMMPfam_Plectin - no_stop_codon:bad_bp_length_for_coding_region IKBKE 9641 genome.wustl.edu 36 1 204733252 204733252 + Nonsense_Mutation SNP C C T novel unknown TCGA-29-1705-01A-01W-0633-09 TCGA-29-1705-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d8379cd3-78f6-478c-a4bc-d4b3e72aa01c 7ed7a0dc-81fa-498f-b03c-a39217bdf5b3 1 204733252 204733252 C T SNP IKBKE NM_014002 human genbank 54_36p +1 validated nonsense c.1963 p.Q655* 0.429 NULL PatternScan_PROTEIN_KINASE_ST,HMMPfam_Pkinase,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP - no_errors CD46 4179 genome.wustl.edu 36 1 205996982 205996982 + Missense_Mutation SNP A A G novel unknown TCGA-29-1705-01A-01W-0633-09 TCGA-29-1705-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d8379cd3-78f6-478c-a4bc-d4b3e72aa01c 7ed7a0dc-81fa-498f-b03c-a39217bdf5b3 1 205996982 205996982 A G SNP CD46 NM_172359 human genbank 54_36p +1 reviewed missense c.98 p.D33G 0.997 NULL HMMPfam_Sushi,HMMSmart_CCP,superfamily_Complement_control_module - no_errors MFF 56947 genome.wustl.edu 36 2 227913268 227913268 + Missense_Mutation SNP G G A novel unknown TCGA-29-1705-01A-01W-0633-09 TCGA-29-1705-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d8379cd3-78f6-478c-a4bc-d4b3e72aa01c 7ed7a0dc-81fa-498f-b03c-a39217bdf5b3 2 227913268 227913268 G A SNP MFF NM_020194 human genbank 54_36p +1 provisional missense c.446 p.R149K 1.000 HMMPfam_DUF800 HMMPfam_DUF800 - no_errors PASK 23178 genome.wustl.edu 36 2 241725176 241725176 + Silent SNP G G C novel unknown TCGA-29-1705-01A-01W-0633-09 TCGA-29-1705-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d8379cd3-78f6-478c-a4bc-d4b3e72aa01c 7ed7a0dc-81fa-498f-b03c-a39217bdf5b3 2 241725176 241725176 G C SNP PASK NM_015148 human genbank 54_36p -1 validated silent c.1053 p.L351 0.945 HMMSmart_SM00091 HMMSmart_SM00091,HMMPfam_PAS,superfamily_PYP-like sensor domain (PAS domain),superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST - no_errors TRIM22 10346 genome.wustl.edu 36 11 5674265 5674301 + Frame_Shift_Del DEL ACATAGTTGAGAGAGTCAAAGAGGTCAAGATGAGCCC ACATAGTTGAGAGAGTCAAAGAGGTCAAGATGAGCCC - novel unknown TCGA-29-1705-01A-01W-0633-09 TCGA-29-1705-10A-01W-0633-09 ACATAGTTGAGAGAGTCAAAGAGGTCAAGATGAGCCC ACATAGTTGAGAGAGTCAAAGAGGTCAAGATGAGCCC Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d8379cd3-78f6-478c-a4bc-d4b3e72aa01c 7ed7a0dc-81fa-498f-b03c-a39217bdf5b3 11 5674265 5674301 ACATAGTTGAGAGAGTCAAAGAGGTCAAGATGAGCCC - DEL TRIM22 NM_006074 human genbank 54_36p +1 reviewed frame_shift_del c.227_263 p.I77fs 0.043:0.018:0.013:0.012:0.001:0.001:0.001:0.000:0.000:0.002:0.007:0.008:0.003:0.000:0.000:0.001:0.002:0.001:0.000:0.000:0.000:0.001:0.000:0.000:0.000:0.000:0.001:0.000:0.000:0.000:0.000:0.022:0.019:0.116:0.130:0.129:0.075 superfamily_RING/U-box superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1,HMMPfam_zf-B_box,HMMSmart_SM00336,HMMPfam_SPRY,HMMSmart_SM00449 (deletion:cds_exon[5674039,5674461]) no_errors LAMA3 3909 genome.wustl.edu 36 18 19672784 19672787 + Frame_Shift_Del DEL GTAT GTAT - novel unknown TCGA-29-1705-01A-01W-0633-09 TCGA-29-1705-10A-01W-0633-09 GTAT GTAT Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d8379cd3-78f6-478c-a4bc-d4b3e72aa01c 7ed7a0dc-81fa-498f-b03c-a39217bdf5b3 18 19672784 19672787 GTAT - DEL LAMA3 NM_198129 human genbank 54_36p +1 reviewed frame_shift_del c.3135_3138 p.Y1046fs 1.000:1.000:1.000:0.991 NULL HMMSmart_SM00136,HMMPfam_Laminin_N,superfamily_Galactose-binding domain-like,HMMPfam_Laminin_EGF,HMMSmart_SM00180,superfamily_EGF/Laminin,PatternScan_EGF_1,PatternScan_EGF_LAM_1,HMMSmart_SM00181,HMMSmart_SM00281,HMMPfam_Laminin_B,PatternScan_EGF_2,HMMPfam_Laminin_I,HMMPfam_Laminin_II,superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00282,HMMPfam_Laminin_G_2,PatternScan_CHAPERONINS_CPN60 (deletion:cds_exon[19672743,19672840]) no_errors FGD2 221472 genome.wustl.edu 36 6 37087608 37087612 + Frame_Shift_Del DEL GGTGA GGTGA - novel unknown TCGA-29-1705-01A-01W-0633-09 TCGA-29-1705-10A-01W-0633-09 GGTGA GGTGA Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d8379cd3-78f6-478c-a4bc-d4b3e72aa01c 7ed7a0dc-81fa-498f-b03c-a39217bdf5b3 6 37087608 37087612 GGTGA - DEL FGD2 NM_173558 human genbank 54_36p +1 validated frame_shift_del c.527 p.W176fs 1.000 superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325 superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,HMMSmart_SM00064,HMMPfam_FYVE,superfamily_FYVE/PHD zinc finger (deletion:cds_exon[37087460,37087608], intron[37087609,37089362]) no_errors