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 PTDSS2 81490 genome.wustl.edu 36 11 469122 469122 + Nonsense_Mutation SNP C C A novel unknown TCGA-61-1730-01A-01W-0639-09 TCGA-61-1730-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7ea79695-b5ea-4754-8e1e-604be883d781 c144342d-3569-43ce-addc-7e977f91ff60 11 469122 469122 C A SNP PTDSS2 NM_030783 human genbank 54_36p +1 provisional nonsense c.405 p.Y135* 1.000 HMMPfam_PSS HMMPfam_PSS - no_errors TULP3 7289 genome.wustl.edu 36 12 2917708 2917708 + Silent SNP T C C novel unknown TCGA-61-1730-01A-01W-0639-09 TCGA-61-1730-11A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7ea79695-b5ea-4754-8e1e-604be883d781 c144342d-3569-43ce-addc-7e977f91ff60 12 2917708 2917708 T C SNP TULP3 NM_003324 human genbank 54_36p +1 reviewed silent c.1191 p.N397 1.000 superfamily_Transcriptional factor tubby C-terminal domain,HMMPfam_Tub superfamily_Transcriptional factor tubby C-terminal domain,HMMPfam_Tub,PatternScan_TUB_1,PatternScan_TUB_2 - no_errors ATRN 8455 genome.wustl.edu 36 20 3512634 3512634 + Missense_Mutation SNP T T G novel unknown TCGA-61-1730-01A-01W-0639-09 TCGA-61-1730-11A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7ea79695-b5ea-4754-8e1e-604be883d781 c144342d-3569-43ce-addc-7e977f91ff60 20 3512634 3512634 T G SNP ATRN NM_139321 human genbank 54_36p +1 reviewed missense c.2854 p.C952G 1.000 HMMPfam_PSI,HMMSmart_SM00423 superfamily_EGF/Laminin,HMMSmart_SM00181,HMMPfam_EGF_2,PatternScan_EGF_1,PatternScan_EGF_2,superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042,superfamily_Galactose oxidase central domain,HMMPfam_Kelch_1,HMMPfam_Kelch_2,HMMPfam_PSI,HMMSmart_SM00423,superfamily_C-type lectin-like,HMMSmart_SM00034,HMMPfam_Lectin_C,HMMPfam_Laminin_EGF,HMMSmart_SM00180,PatternScan_EGF_LAM_1 - no_errors C6orf145 221749 genome.wustl.edu 36 6 3668965 3668965 + Nonsense_Mutation SNP C C A novel unknown TCGA-61-1730-01A-01W-0639-09 TCGA-61-1730-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7ea79695-b5ea-4754-8e1e-604be883d781 c144342d-3569-43ce-addc-7e977f91ff60 6 3668965 3668965 C A SNP C6orf145 NM_183373 human genbank 54_36p -1 validated nonsense c.583 p.E195* 1.000 NULL superfamily_PX - no_errors SLC29A4 222962 genome.wustl.edu 36 7 5305520 5305520 + Missense_Mutation SNP T T C novel unknown TCGA-61-1730-01A-01W-0639-09 TCGA-61-1730-11A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7ea79695-b5ea-4754-8e1e-604be883d781 c144342d-3569-43ce-addc-7e977f91ff60 7 5305520 5305520 T C SNP SLC29A4 NM_001040661 human genbank 54_36p +1 reviewed missense c.1145 p.I382T 0.990 superfamily_MFS general substrate transporter,HMMPfam_Nucleoside_tran superfamily_MFS general substrate transporter,HMMPfam_Nucleoside_tran - no_errors TP53 7157 genome.wustl.edu 36 17 7519260 7519260 + Missense_Mutation SNP T T C novel unknown TCGA-61-1730-01A-01W-0639-09 TCGA-61-1730-11A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7ea79695-b5ea-4754-8e1e-604be883d781 c144342d-3569-43ce-addc-7e977f91ff60 17 7519260 7519260 T C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.395 p.K132R 1.000 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 KIF1B 23095 genome.wustl.edu 36 1 10279706 10279706 + Missense_Mutation SNP C C G novel unknown TCGA-61-1730-01A-01W-0639-09 TCGA-61-1730-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7ea79695-b5ea-4754-8e1e-604be883d781 c144342d-3569-43ce-addc-7e977f91ff60 1 10279706 10279706 C G SNP KIF1B NM_015074 human genbank 54_36p +1 reviewed missense c.1888 p.Q630E 1.000 NULL HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Kinesin,PatternScan_KINESIN_MOTOR_DOMAIN1,superfamily_SMAD/FHA domain,HMMSmart_SM00240,HMMPfam_FHA,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233 - no_errors TNFRSF8 943 genome.wustl.edu 36 1 12067111 12067111 + Nonsense_Mutation SNP C C T novel unknown TCGA-61-1730-01A-01W-0639-09 TCGA-61-1730-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7ea79695-b5ea-4754-8e1e-604be883d781 c144342d-3569-43ce-addc-7e977f91ff60 1 12067111 12067111 C T SNP TNFRSF8 NM_001243 human genbank 54_36p +1 reviewed nonsense c.67 p.R23* 0.009 NULL HMMPfam_TNFR_c6,HMMSmart_SM00208,superfamily_TNF receptor-like,PatternScan_TNFR_NGFR_1 - no_errors MRC1L1 414308 genome.wustl.edu 36 10 17967411 17967411 + Missense_Mutation SNP G G T novel unknown TCGA-61-1730-01A-01W-0639-09 TCGA-61-1730-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7ea79695-b5ea-4754-8e1e-604be883d781 c144342d-3569-43ce-addc-7e977f91ff60 10 17967411 17967411 G T SNP MRC1L1 NM_001009567 human genbank 54_36p +1 reviewed missense c.3107 p.G1036V 0.995 superfamily_C-type lectin-like,HMMSmart_SM00034,HMMPfam_Lectin_C superfamily_Ricin B-like lectins,HMMSmart_SM00458,HMMPfam_Ricin_B_lectin,superfamily_Kringle-like,HMMSmart_SM00059,HMMPfam_fn2,PatternScan_FN2_1,superfamily_C-type lectin-like,HMMSmart_SM00034,HMMPfam_Lectin_C,PatternScan_C_TYPE_LECTIN_1 - no_errors LOC283523 283523 genome.wustl.edu 36 13 18153004 18153004 + Missense_Mutation SNP G G A novel unknown TCGA-61-1730-01A-01W-0639-09 TCGA-61-1730-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7ea79695-b5ea-4754-8e1e-604be883d781 c144342d-3569-43ce-addc-7e977f91ff60 13 18153004 18153004 G A SNP LOC283523 XM_001714856 human genbank 54_36p +1 model missense c.460 p.A154T 0.981 superfamily_Telomeric repeat binding factor (TRF) dimerisation domain,HMMPfam_TRF superfamily_Telomeric repeat binding factor (TRF) dimerisation domain,HMMPfam_TRF,superfamily_Homeodomain-like,HMMSmart_SM00717,HMMPfam_Myb_DNA-binding - pseudogene LOC100128765 0 genome.wustl.edu 36 13 18603747 18603747 + Missense_Mutation SNP A A T novel unknown TCGA-61-1730-01A-01W-0639-09 TCGA-61-1730-11A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7ea79695-b5ea-4754-8e1e-604be883d781 c144342d-3569-43ce-addc-7e977f91ff60 13 18603747 18603747 A T SNP LOC100128765 XM_001714904 human genbank 54_36p +1 model missense c.594 p.Q198H 0.006 NULL HMMPfam_Mis6 - no_errors LOC646096 646096 genome.wustl.edu 36 15 18748882 18748882 + RNA SNP C C A novel unknown TCGA-61-1730-01A-01W-0639-09 TCGA-61-1730-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7ea79695-b5ea-4754-8e1e-604be883d781 c144342d-3569-43ce-addc-7e977f91ff60 15 18748882 18748882 C A SNP LOC646096 XR_040858 human genbank 54_36p +1 model rna NULL NULL 0.889 - - - no_errors LOC100128060 0 genome.wustl.edu 36 13 21100777 21100777 + Silent SNP G G A novel unknown TCGA-61-1730-01A-01W-0639-09 TCGA-61-1730-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7ea79695-b5ea-4754-8e1e-604be883d781 c144342d-3569-43ce-addc-7e977f91ff60 13 21100777 21100777 G A SNP LOC100128060 XM_001718205 human genbank 54_36p -1 model silent c.378 p.H126 1.000 HMMPfam_Ribosomal_S7e HMMPfam_Ribosomal_S7e,PatternScan_RIBOSOMAL_S7E - pseudogene ALK 238 genome.wustl.edu 36 2 29269704 29269704 + Missense_Mutation SNP C C T novel unknown TCGA-61-1730-01A-01W-0639-09 TCGA-61-1730-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7ea79695-b5ea-4754-8e1e-604be883d781 c144342d-3569-43ce-addc-7e977f91ff60 2 29269704 29269704 C T SNP ALK NM_004304 human genbank 54_36p -1 reviewed missense c.4753 p.G1585S 1.000 NULL superfamily_LDL receptor-like module,HMMSmart_SM00192,HMMPfam_MAM,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_TYR,PatternScan_RECEPTOR_TYR_KIN_II - no_errors C20orf152 140894 genome.wustl.edu 36 20 34081816 34081816 + Silent SNP G G A novel unknown TCGA-61-1730-01A-01W-0639-09 TCGA-61-1730-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7ea79695-b5ea-4754-8e1e-604be883d781 c144342d-3569-43ce-addc-7e977f91ff60 20 34081816 34081816 G A SNP C20orf152 NM_080834 human genbank 54_36p +1 predicted silent c.1551 p.K517 0.222 NULL superfamily_cNMP_binding,HMMSmart_cNMP,HMMPfam_cNMP_binding,PatternScan_CNMP_BINDING_1 - no_errors LMBRD2 92255 genome.wustl.edu 36 5 36158785 36158785 + Silent SNP G G A novel unknown TCGA-61-1730-01A-01W-0639-09 TCGA-61-1730-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7ea79695-b5ea-4754-8e1e-604be883d781 c144342d-3569-43ce-addc-7e977f91ff60 5 36158785 36158785 G A SNP LMBRD2 NM_001007527 human genbank 54_36p -1 validated silent c.858 p.N286 1.000 HMMPfam_LMBR1 HMMPfam_LMBR1 - no_errors EIF2C3 192669 genome.wustl.edu 36 1 36265339 36265339 + Missense_Mutation SNP G G T novel unknown TCGA-61-1730-01A-01W-0639-09 TCGA-61-1730-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7ea79695-b5ea-4754-8e1e-604be883d781 c144342d-3569-43ce-addc-7e977f91ff60 1 36265339 36265339 G T SNP EIF2C3 NM_024852 human genbank 54_36p +1 reviewed missense c.1444 p.A482S 1.000 NULL HMMPfam_DUF1785,superfamily_SSF101690,HMMPfam_PAZ,superfamily_RNaseH_fold,HMMPfam_Piwi - no_errors PLCG1 5335 genome.wustl.edu 36 20 39224709 39224709 + Missense_Mutation SNP G G A novel unknown TCGA-61-1730-01A-01W-0639-09 TCGA-61-1730-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7ea79695-b5ea-4754-8e1e-604be883d781 c144342d-3569-43ce-addc-7e977f91ff60 20 39224709 39224709 G A SNP PLCG1 NM_002660 human genbank 54_36p +1 reviewed missense c.611 p.R204H 1.000 superfamily_SSF47473 superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH,PatternScan_EF_HAND_1,superfamily_SSF47473,HMMSmart_PLCXc,HMMPfam_PI-PLC-X,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_SSF55550,HMMSmart_SH2,HMMPfam_SH2,superfamily_SH3,HMMPfam_SH3_1,HMMSmart_SH3,HMMPfam_PI-PLC-Y,HMMSmart_PLCYc,superfamily_C2_CaLB,HMMSmart_C2,HMMPfam_C2 - no_errors C9 735 genome.wustl.edu 36 5 39324698 39324698 + Missense_Mutation SNP C C A novel unknown TCGA-61-1730-01A-01W-0639-09 TCGA-61-1730-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7ea79695-b5ea-4754-8e1e-604be883d781 c144342d-3569-43ce-addc-7e977f91ff60 5 39324698 39324698 C A SNP C9 NM_001737 human genbank 54_36p -1 reviewed missense c.1529 p.C510F 0.611 superfamily_SSF57196 superfamily_TSP1,HMMSmart_TSP1,HMMPfam_TSP_1,HMMPfam_Ldl_recept_a,superfamily_LDL_rcpt_classA_cys-rich,HMMSmart_LDLa,PatternScan_LDLRA_1,HMMPfam_MACPF,HMMSmart_MACPF,PatternScan_MAC_PERFORIN,superfamily_SSF57196,PatternScan_EGF_2,PatternScan_EGF_1 - no_errors MACF1 23499 genome.wustl.edu 36 1 39693191 39693191 + Missense_Mutation SNP C C A novel unknown TCGA-61-1730-01A-01W-0639-09 TCGA-61-1730-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7ea79695-b5ea-4754-8e1e-604be883d781 c144342d-3569-43ce-addc-7e977f91ff60 1 39693191 39693191 C A SNP MACF1 NM_033044 human genbank 54_36p +1 reviewed missense c.16239 p.H5413Q 1.000 HMMPfam_Spectrin,superfamily_Spectrin,HMMSmart_SPEC superfamily_SSF75399,HMMSmart_PLEC,HMMPfam_Plectin,HMMPfam_Spectrin,superfamily_Spectrin,HMMSmart_SPEC,PatternScan_GLYCOSYL_HYDROL_F5,superfamily_SSF47473,HMMSmart_EFh,HMMPfam_efhand,PatternScan_EF_HAND_1,HMMPfam_GAS2,HMMSmart_GAS2 - no_errors NPHS1 4868 genome.wustl.edu 36 19 41025228 41025228 + Missense_Mutation SNP C C T novel unknown TCGA-61-1730-01A-01W-0639-09 TCGA-61-1730-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7ea79695-b5ea-4754-8e1e-604be883d781 c144342d-3569-43ce-addc-7e977f91ff60 19 41025228 41025228 C T SNP NPHS1 NM_004646 human genbank 54_36p -1 validated missense c.2399 p.R800H 0.989 superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_C2-set_2,HMMPfam_I-set,HMMPfam_ig,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3 - no_errors MMP9 4318 genome.wustl.edu 36 20 44075367 44075367 + Missense_Mutation SNP C C T novel unknown TCGA-61-1730-01A-01W-0639-09 TCGA-61-1730-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7ea79695-b5ea-4754-8e1e-604be883d781 c144342d-3569-43ce-addc-7e977f91ff60 20 44075367 44075367 C T SNP MMP9 NM_004994 human genbank 54_36p +1 reviewed missense c.1397 p.T466M 0.011 NULL "superfamily_PGBD-like,HMMPfam_PG_binding_1,PatternScan_CYSTEINE_SWITCH,superfamily_Metalloproteases (""zincins"") catalytic domain,HMMSmart_SM00235,HMMPfam_Peptidase_M10,superfamily_Kringle-like,HMMSmart_SM00059,HMMPfam_fn2,PatternScan_FN2_1,HMMPfam_PT,superfamily_Hemopexin-like domain,HMMPfam_Hemopexin,HMMSmart_SM00120,PatternScan_HEMOPEXIN" - no_errors WFIKKN2 124857 genome.wustl.edu 36 17 46272360 46272360 + Missense_Mutation SNP C C T novel unknown TCGA-61-1730-01A-01W-0639-09 TCGA-61-1730-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7ea79695-b5ea-4754-8e1e-604be883d781 c144342d-3569-43ce-addc-7e977f91ff60 17 46272360 46272360 C T SNP WFIKKN2 NM_175575 human genbank 54_36p +1 reviewed missense c.712 p.R238W 0.986 superfamily_SSF48726,HMMPfam_I-set,HMMSmart_IGc2 PatternScan_KAZAL,superfamily_WAP,HMMPfam_WAP,HMMSmart_WAP,PatternScan_4_DISULFIDE_CORE,superfamily_SSF100895,HMMPfam_Kazal_2,HMMSmart_KAZAL,superfamily_SSF48726,HMMPfam_I-set,HMMSmart_IGc2,superfamily_Prot_inh_Kunz-m,HMMSmart_KU,HMMPfam_Kunitz_BPTI,PatternScan_BPTI_KUNITZ_1,superfamily_TIMP_like - no_errors ACCN2 41 genome.wustl.edu 36 12 48739879 48739879 + Missense_Mutation SNP C C T novel unknown TCGA-61-1730-01A-01W-0639-09 TCGA-61-1730-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7ea79695-b5ea-4754-8e1e-604be883d781 c144342d-3569-43ce-addc-7e977f91ff60 12 48739879 48739879 C T SNP ACCN2 NM_020039 human genbank 54_36p +1 reviewed missense c.433 p.R145C 1.000 HMMPfam_ASC HMMPfam_ASC,PatternScan_ASC - no_errors UNC13C 440279 genome.wustl.edu 36 15 52612421 52612421 + Missense_Mutation SNP T T C novel unknown TCGA-61-1730-01A-01W-0639-09 TCGA-61-1730-11A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7ea79695-b5ea-4754-8e1e-604be883d781 c144342d-3569-43ce-addc-7e977f91ff60 15 52612421 52612421 T C SNP UNC13C NM_001080534 human genbank 54_36p +1 provisional missense c.5561 p.I1854T 1.000 HMMPfam_DUF1041 superfamily_SSF57889,HMMSmart_C1,PatternScan_ZF_DAG_PE_1,HMMPfam_C1_1,superfamily_C2_CaLB,HMMSmart_C2,HMMPfam_C2,HMMPfam_DUF1041,HMMPfam_Membr_traf_MHD - no_errors CABP5 56344 genome.wustl.edu 36 19 53229299 53229299 + Missense_Mutation SNP T T C novel unknown TCGA-61-1730-01A-01W-0639-09 TCGA-61-1730-11A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7ea79695-b5ea-4754-8e1e-604be883d781 c144342d-3569-43ce-addc-7e977f91ff60 19 53229299 53229299 T C SNP CABP5 NM_019855 human genbank 54_36p -1 reviewed missense c.481 p.T161A 0.571 superfamily_SSF47473,HMMSmart_EFh,HMMPfam_efhand,PatternScan_EF_HAND_1 superfamily_SSF47473,HMMSmart_EFh,HMMPfam_efhand,PatternScan_EF_HAND_1 - no_errors OR8K5 219453 genome.wustl.edu 36 11 55683661 55683661 + Missense_Mutation SNP C C A novel unknown TCGA-61-1730-01A-01W-0639-09 TCGA-61-1730-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7ea79695-b5ea-4754-8e1e-604be883d781 c144342d-3569-43ce-addc-7e977f91ff60 11 55683661 55683661 C A SNP OR8K5 NM_001004058 human genbank 54_36p -1 validated missense c.709 p.A237S 0.994 superfamily_SSF81321,HMMPfam_7tm_1 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors FAM81A 145773 genome.wustl.edu 36 15 57539622 57539622 + Silent SNP C C T novel unknown TCGA-61-1730-01A-01W-0639-09 TCGA-61-1730-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7ea79695-b5ea-4754-8e1e-604be883d781 c144342d-3569-43ce-addc-7e977f91ff60 15 57539622 57539622 C T SNP FAM81A NM_152450 human genbank 54_36p +1 validated silent c.219 p.R73 0.937 NULL NULL - no_errors CDH4 1002 genome.wustl.edu 36 20 59932073 59932073 + Missense_Mutation SNP G G T novel unknown TCGA-61-1730-01A-01W-0639-09 TCGA-61-1730-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7ea79695-b5ea-4754-8e1e-604be883d781 c144342d-3569-43ce-addc-7e977f91ff60 20 59932073 59932073 G T SNP CDH4 NM_001794 human genbank 54_36p +1 reviewed missense c.1544 p.R515L 1.000 superfamily_Cadherin,HMMPfam_Cadherin superfamily_Cadherin,HMMPfam_Cadherin_pro,HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,HMMPfam_Cadherin_C - no_errors GP6 51206 genome.wustl.edu 36 19 60217599 60217599 + Missense_Mutation SNP G G A novel unknown TCGA-61-1730-01A-01W-0639-09 TCGA-61-1730-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7ea79695-b5ea-4754-8e1e-604be883d781 c144342d-3569-43ce-addc-7e977f91ff60 19 60217599 60217599 G A SNP GP6 NM_001083899 human genbank 54_36p -1 validated missense c.1526 p.T509M 0.007 NULL superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig - no_errors ZNF17 7565 genome.wustl.edu 36 19 62623975 62623975 + Missense_Mutation SNP G G C novel unknown TCGA-61-1730-01A-01W-0639-09 TCGA-61-1730-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7ea79695-b5ea-4754-8e1e-604be883d781 c144342d-3569-43ce-addc-7e977f91ff60 19 62623975 62623975 G C SNP ZNF17 NM_006959 human genbank 54_36p +1 validated missense c.1303 p.V435L 0.036 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,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2 - no_errors DCK 1633 genome.wustl.edu 36 4 72108233 72108233 + Silent SNP A A G novel unknown TCGA-61-1730-01A-01W-0639-09 TCGA-61-1730-11A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7ea79695-b5ea-4754-8e1e-604be883d781 c144342d-3569-43ce-addc-7e977f91ff60 4 72108233 72108233 A G SNP DCK NM_000788 human genbank 54_36p +1 reviewed silent c.495 p.Q165 1.000 superfamily_SSF52540,HMMPfam_dNK superfamily_SSF52540,HMMPfam_dNK - no_errors RNF213 57674 genome.wustl.edu 36 17 75935083 75935083 + Missense_Mutation SNP G G A novel unknown TCGA-61-1730-01A-01W-0639-09 TCGA-61-1730-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7ea79695-b5ea-4754-8e1e-604be883d781 c144342d-3569-43ce-addc-7e977f91ff60 17 75935083 75935083 G A SNP RNF213 NM_020914 human genbank 54_36p +1 validated missense c.2572 p.A858T 1.000 superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382 superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4 - no_errors VCAN 1462 genome.wustl.edu 36 5 82821904 82821904 + Missense_Mutation SNP T T A novel unknown TCGA-61-1730-01A-01W-0639-09 TCGA-61-1730-11A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7ea79695-b5ea-4754-8e1e-604be883d781 c144342d-3569-43ce-addc-7e977f91ff60 5 82821904 82821904 T A SNP VCAN NM_004385 human genbank 54_36p +1 validated missense c.302 p.V101E 0.981 HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409 HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409,superfamily_C-type lectin-like,HMMSmart_SM00445,HMMPfam_Xlink,PatternScan_LINK_1,superfamily_EGF/Laminin,HMMSmart_SM00181,HMMPfam_EGF,HMMSmart_SM00179,PatternScan_EGF_1,PatternScan_EGF_2,PatternScan_EGF_CA,PatternScan_ASX_HYDROXYL,HMMSmart_SM00034,HMMPfam_Lectin_C,PatternScan_C_TYPE_LECTIN_1,superfamily_Complement control module/SCR domain,HMMPfam_Sushi,HMMSmart_SM00032 - no_errors AMY2B 280 genome.wustl.edu 36 1 103915880 103915880 + Nonsense_Mutation SNP C C T novel unknown TCGA-61-1730-01A-01W-0639-09 TCGA-61-1730-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7ea79695-b5ea-4754-8e1e-604be883d781 c144342d-3569-43ce-addc-7e977f91ff60 1 103915880 103915880 C T SNP AMY2B NM_020978 human genbank 54_36p +1 reviewed nonsense c.133 p.R45* 1.000 superfamily_(Trans)glycosidases,HMMPfam_Alpha-amylase,HMMSmart_SM00642 superfamily_(Trans)glycosidases,HMMPfam_Alpha-amylase,HMMSmart_SM00642,superfamily_Glycosyl hydrolase domain,HMMSmart_SM00632,HMMPfam_Alpha-amylase_C - no_errors ELOVL3 83401 genome.wustl.edu 36 10 103978721 103978721 + Missense_Mutation SNP G G A novel unknown TCGA-61-1730-01A-01W-0639-09 TCGA-61-1730-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7ea79695-b5ea-4754-8e1e-604be883d781 c144342d-3569-43ce-addc-7e977f91ff60 10 103978721 103978721 G A SNP ELOVL3 NM_152310 human genbank 54_36p +1 provisional missense c.535 p.A179T 0.988 HMMPfam_ELO HMMPfam_ELO,PatternScan_ELO - no_errors AHNAK2 113146 genome.wustl.edu 36 14 104489872 104489872 + Silent SNP G G A novel unknown TCGA-61-1730-01A-01W-0639-09 TCGA-61-1730-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7ea79695-b5ea-4754-8e1e-604be883d781 c144342d-3569-43ce-addc-7e977f91ff60 14 104489872 104489872 G A SNP AHNAK2 NM_138420 human genbank 54_36p -1 validated silent c.2961 p.A987 0.000 NULL superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228,HMMPfam_Involucrin - no_errors LOC728914 728914 genome.wustl.edu 36 4 113706054 113706054 + RNA SNP A A T novel unknown TCGA-61-1730-01A-01W-0639-09 TCGA-61-1730-11A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7ea79695-b5ea-4754-8e1e-604be883d781 c144342d-3569-43ce-addc-7e977f91ff60 4 113706054 113706054 A T SNP LOC728914 XR_015818 human genbank 54_36p +1 model rna NULL NULL 0.919 - - - pseudogene THOC2 57187 genome.wustl.edu 36 X 122628676 122628676 + Missense_Mutation SNP G C C novel unknown TCGA-61-1730-01A-01W-0639-09 TCGA-61-1730-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7ea79695-b5ea-4754-8e1e-604be883d781 c144342d-3569-43ce-addc-7e977f91ff60 X 122628676 122628676 G C SNP THOC2 NM_001081550 human genbank 54_36p -1 validated missense c.1152 p.C384W 1.000 NULL NULL - no_errors GOLGA1 2800 genome.wustl.edu 36 9 126714027 126714027 + Missense_Mutation SNP C T T novel unknown TCGA-61-1730-01A-01W-0639-09 TCGA-61-1730-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7ea79695-b5ea-4754-8e1e-604be883d781 c144342d-3569-43ce-addc-7e977f91ff60 9 126714027 126714027 C T SNP GOLGA1 NM_002077 human genbank 54_36p -1 reviewed missense c.943 p.E315K 1.000 superfamily_Prefoldin superfamily_Prefoldin,HMMPfam_GRIP,HMMSmart_SM00755 - no_errors EP400 57634 genome.wustl.edu 36 12 131068798 131068798 + Missense_Mutation SNP C C T novel unknown TCGA-61-1730-01A-01W-0639-09 TCGA-61-1730-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7ea79695-b5ea-4754-8e1e-604be883d781 c144342d-3569-43ce-addc-7e977f91ff60 12 131068798 131068798 C T SNP EP400 NM_015409 human genbank 54_36p +1 validated missense c.4198 p.R1400W 0.915 NULL HMMPfam_HSA,HMMSmart_HSA,superfamily_SSF52540,HMMSmart_DEXDc,HMMPfam_SNF2_N,HMMSmart_HELICc,HMMPfam_Helicase_C,superfamily_Homeodomain_like - no_errors ANKRD35 148741 genome.wustl.edu 36 1 144273287 144273287 + Nonsense_Mutation SNP C C T novel unknown TCGA-61-1730-01A-01W-0639-09 TCGA-61-1730-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7ea79695-b5ea-4754-8e1e-604be883d781 c144342d-3569-43ce-addc-7e977f91ff60 1 144273287 144273287 C T SNP ANKRD35 NM_144698 human genbank 54_36p +1 validated nonsense c.1618 p.R540* 0.410 NULL superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank - no_errors LOC729176 729176 genome.wustl.edu 36 6 147165550 147165550 + RNA SNP C C T novel unknown TCGA-61-1730-01A-01W-0639-09 TCGA-61-1730-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7ea79695-b5ea-4754-8e1e-604be883d781 c144342d-3569-43ce-addc-7e977f91ff60 6 147165550 147165550 C T SNP LOC729176 NR_003954 human genbank 54_36p -1 validated rna NULL NULL 0.319 - - - pseudogene TDRKH 11022 genome.wustl.edu 36 1 150022009 150022009 + Silent SNP C C T novel unknown TCGA-61-1730-01A-01W-0639-09 TCGA-61-1730-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7ea79695-b5ea-4754-8e1e-604be883d781 c144342d-3569-43ce-addc-7e977f91ff60 1 150022009 150022009 C T SNP TDRKH NM_001083963 human genbank 54_36p -1 validated silent c.114 p.R38 0.972 NULL superfamily_Eukaryotic type KH-domain (KH-domain type I),HMMSmart_SM00322,HMMPfam_KH_1,HMMPfam_TUDOR,superfamily_Tudor/PWWP/MBT,HMMSmart_SM00333 - no_errors NMD3 51068 genome.wustl.edu 36 3 162427746 162427746 + Missense_Mutation SNP G G T novel unknown TCGA-61-1730-01A-01W-0639-09 TCGA-61-1730-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7ea79695-b5ea-4754-8e1e-604be883d781 c144342d-3569-43ce-addc-7e977f91ff60 3 162427746 162427746 G T SNP NMD3 NM_015938 human genbank 54_36p +1 provisional missense c.197 p.G66V 1.000 HMMPfam_NMD3 HMMPfam_NMD3 - no_errors SLC7A14 57709 genome.wustl.edu 36 3 171699183 171699183 + Silent SNP C C T novel unknown TCGA-61-1730-01A-01W-0639-09 TCGA-61-1730-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7ea79695-b5ea-4754-8e1e-604be883d781 c144342d-3569-43ce-addc-7e977f91ff60 3 171699183 171699183 C T SNP SLC7A14 NM_020949 human genbank 54_36p -1 validated silent c.726 p.A242 0.949 HMMPfam_AA_permease HMMPfam_AA_permease - no_errors ITGA6 3655 genome.wustl.edu 36 2 173060957 173060957 + Missense_Mutation SNP G G T novel unknown TCGA-61-1730-01A-01W-0639-09 TCGA-61-1730-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7ea79695-b5ea-4754-8e1e-604be883d781 c144342d-3569-43ce-addc-7e977f91ff60 2 173060957 173060957 G T SNP ITGA6 NM_001079818 human genbank 54_36p +1 reviewed missense c.2347 p.A783S 0.996 HMMPfam_Integrin_alpha2,superfamily_Integrin domains superfamily_Integrin alpha N-terminal domain,HMMSmart_SM00191,HMMPfam_FG-GAP,HMMPfam_Integrin_alpha2,superfamily_Integrin domains,PatternScan_INTEGRIN_ALPHA - no_errors CLK4 57396 genome.wustl.edu 36 5 177982874 177982874 + Silent SNP T T C novel unknown TCGA-61-1730-01A-01W-0639-09 TCGA-61-1730-11A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7ea79695-b5ea-4754-8e1e-604be883d781 c144342d-3569-43ce-addc-7e977f91ff60 5 177982874 177982874 T C SNP CLK4 NM_020666 human genbank 54_36p -1 reviewed silent c.150 p.K50 0.894 NULL superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST - no_errors FAT1 2195 genome.wustl.edu 36 4 187771320 187771320 + Missense_Mutation SNP C C A novel unknown TCGA-61-1730-01A-01W-0639-09 TCGA-61-1730-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7ea79695-b5ea-4754-8e1e-604be883d781 c144342d-3569-43ce-addc-7e977f91ff60 4 187771320 187771320 C A SNP FAT1 NM_005245 human genbank 54_36p -1 reviewed missense c.9400 p.V3134L 0.997 superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like,HMMPfam_Cadherin superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Concanavalin A-like lectins/glucanases,PatternScan_CADHERIN_1,HMMSmart_SM00181,superfamily_EGF/Laminin,HMMSmart_SM00282,HMMPfam_Laminin_G_2,HMMSmart_SM00179,HMMPfam_EGF,PatternScan_EGF_1,PatternScan_EGF_2,PatternScan_EGF_CA,PatternScan_ASX_HYDROXYL - no_errors LRRC33 375387 genome.wustl.edu 36 3 197872265 197872265 + Missense_Mutation SNP C C T novel unknown TCGA-61-1730-01A-01W-0639-09 TCGA-61-1730-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7ea79695-b5ea-4754-8e1e-604be883d781 c144342d-3569-43ce-addc-7e977f91ff60 3 197872265 197872265 C T SNP LRRC33 NM_198565 human genbank 54_36p +1 provisional missense c.1354 p.P452S 0.000 superfamily_SSF52058 superfamily_SSF52058,HMMPfam_LRR_1,HMMSmart_LRR_TYP - no_errors DGKD 8527 genome.wustl.edu 36 2 233961746 233961746 + Silent SNP G G T novel unknown TCGA-61-1730-01A-01W-0639-09 TCGA-61-1730-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7ea79695-b5ea-4754-8e1e-604be883d781 c144342d-3569-43ce-addc-7e977f91ff60 2 233961746 233961746 G T SNP DGKD NM_152879 human genbank 54_36p +1 reviewed silent c.261 p.T87 0.481 superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233 superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,superfamily_Cysteine-rich domain,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,HMMPfam_C1_1,HMMPfam_DAGK_cat,HMMSmart_SM00046,HMMPfam_DAGK_acc,HMMSmart_SM00045,superfamily_SAM/Pointed domain,HMMSmart_SM00454,HMMPfam_SAM_2 - no_errors ENSG00000216102 0 genome.wustl.edu 36 19 9792254 9792261 + RNA DEL ATATACAC ATATACAC - novel unknown TCGA-61-1730-01A-01W-0639-09 TCGA-61-1730-11A-01W-0639-09 ATATACAC ATATACAC Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7ea79695-b5ea-4754-8e1e-604be883d781 c144342d-3569-43ce-addc-7e977f91ff60 19 9792254 9792261 ATATACAC - DEL ENSG00000216102 ENST00000401283 human ensembl 54_36p +1 novel rna NULL NULL 0.000:0.000:0.000:0.001:0.001:0.001:0.001:0.000 - - (deletion:rna[9792204,9792281]) no_errors SLC30A5 64924 genome.wustl.edu 36 5 68459610 68459612 + In_Frame_Del DEL ATC ATC - novel unknown TCGA-61-1730-01A-01W-0639-09 TCGA-61-1730-11A-01W-0639-09 ATC ATC Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7ea79695-b5ea-4754-8e1e-604be883d781 c144342d-3569-43ce-addc-7e977f91ff60 5 68459610 68459612 ATC - DEL SLC30A5 NM_022902 human genbank 54_36p +1 provisional in_frame_del c.2022_2024 p.S675in_frame_del 1.000:1.000:1.000 HMMPfam_Cation_efflux HMMPfam_Cation_efflux (deletion:cds_exon[68459587,68459715]) no_errors SERPINA2 390502 genome.wustl.edu 36 14 93902401 93902401 + Frame_Shift_Del DEL G G - novel unknown TCGA-61-1730-01A-01W-0639-09 TCGA-61-1730-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7ea79695-b5ea-4754-8e1e-604be883d781 c144342d-3569-43ce-addc-7e977f91ff60 14 93902401 93902401 G - DEL SERPINA2 ENST00000238576 human ensembl 54_36p -1 known frame_shift_del c.379 p.L127fs 0.006 superfamily_Serpins,HMMPfam_Serpin,HMMSmart_SM00093 superfamily_Serpins,HMMPfam_Serpin,HMMSmart_SM00093 (deletion:cds_exon[93902129,93902563]) no_start_codon SYNM 23336 genome.wustl.edu 36 15 97471421 97471423 + In_Frame_Del DEL AGT AGT - novel unknown TCGA-61-1730-01A-01W-0639-09 TCGA-61-1730-11A-01W-0639-09 AGT AGT Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7ea79695-b5ea-4754-8e1e-604be883d781 c144342d-3569-43ce-addc-7e977f91ff60 15 97471421 97471423 AGT - DEL SYNM ENST00000336292 human ensembl 54_36p +1 known in_frame_del c.910_912 p.S304in_frame_del 1.000:1.000:0.999 HMMPfam_Filament HMMPfam_Filament,PatternScan_IF (deletion:cds_exon[97471319,97471443]) no_errors MFSD4 148808 genome.wustl.edu 36 1 203834929 203834930 + Frame_Shift_Ins INS - - TTTG novel unknown TCGA-61-1730-01A-01W-0639-09 TCGA-61-1730-11A-01W-0639-09 - - Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7ea79695-b5ea-4754-8e1e-604be883d781 c144342d-3569-43ce-addc-7e977f91ff60 1 203834929 203834930 - TTTG INS MFSD4 NM_181644 human genbank 54_36p +1 validated frame_shift_ins c.1416_1417 p.G473fs 1.000:1.000 superfamily_MFS_gen_substrate_transporter superfamily_MFS_gen_substrate_transporter,HMMPfam_MFS_1 - no_errors