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 MT-ND5 4540 genome.wustl.edu 36 MT 13782 13782 + Missense_Mutation SNP T C C novel unknown TCGA-20-1685-01A-01W-0633-09 TCGA-20-1685-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3256582d-896d-454d-8b5b-371bd75b3a12 335a7e51-3ae8-4c94-b3da-18ba5da1b200 MT 13782 13782 T C SNP MT-ND5 ENST00000361567 human ensembl 54_36p +1 known missense c.1445 p.I482T NULL HMMPfam_NADH5_C HMMPfam_Oxidored_q1_N,HMMPfam_Oxidored_q1,HMMPfam_NADH5_C - no_errors SMARCA2 6595 genome.wustl.edu 36 9 2029892 2029892 + Missense_Mutation SNP G G A novel unknown TCGA-20-1685-01A-01W-0633-09 TCGA-20-1685-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3256582d-896d-454d-8b5b-371bd75b3a12 335a7e51-3ae8-4c94-b3da-18ba5da1b200 9 2029892 2029892 G A SNP SMARCA2 NM_003070 human genbank 54_36p +1 reviewed missense c.782 p.R261K 1.000 NULL HMMPfam_QLQ,HMMPfam_HSA,HMMSmart_SM00573,HMMPfam_BRK,HMMSmart_SM00592,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487,HMMPfam_SNF2_N,HMMSmart_SM00490,HMMPfam_Helicase_C,superfamily_Bromodomain,HMMSmart_SM00297,HMMPfam_Bromodomain,PatternScan_BROMODOMAIN_1 - no_errors INSR 3643 genome.wustl.edu 36 19 7114164 7114164 + Silent SNP G G C novel unknown TCGA-20-1685-01A-01W-0633-09 TCGA-20-1685-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3256582d-896d-454d-8b5b-371bd75b3a12 335a7e51-3ae8-4c94-b3da-18ba5da1b200 19 7114164 7114164 G C SNP INSR NM_000208 human genbank 54_36p -1 reviewed silent c.1908 p.S636 1.000 superfamily_Fibronectin type III,HMMPfam_fn3,HMMSmart_SM00060 superfamily_L domain-like,HMMPfam_Recep_L_domain,HMMPfam_Furin-like,superfamily_Growth factor receptor domain,HMMSmart_SM00261,HMMSmart_SM00060,superfamily_Fibronectin type III,HMMPfam_fn3,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 TP53 7157 genome.wustl.edu 36 17 7519131 7519131 + Missense_Mutation SNP C C T rs28934578 unknown TCGA-20-1685-01A-01W-0633-09 TCGA-20-1685-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3256582d-896d-454d-8b5b-371bd75b3a12 335a7e51-3ae8-4c94-b3da-18ba5da1b200 17 7519131 7519131 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.524 p.R175H 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 STK33 65975 genome.wustl.edu 36 11 8414243 8414243 + Missense_Mutation SNP A A T novel unknown TCGA-20-1685-01A-01W-0633-09 TCGA-20-1685-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3256582d-896d-454d-8b5b-371bd75b3a12 335a7e51-3ae8-4c94-b3da-18ba5da1b200 11 8414243 8414243 A T SNP STK33 NM_030906 human genbank 54_36p -1 validated missense c.967 p.F323I 1.000 superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST - no_errors SLC2A9 56606 genome.wustl.edu 36 4 9591422 9591422 + Missense_Mutation SNP C C G novel unknown TCGA-20-1685-01A-01W-0633-09 TCGA-20-1685-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3256582d-896d-454d-8b5b-371bd75b3a12 335a7e51-3ae8-4c94-b3da-18ba5da1b200 4 9591422 9591422 C G SNP SLC2A9 NM_020041 human genbank 54_36p -1 reviewed missense c.573 p.E191D 1.000 superfamily_MFS general substrate transporter,HMMPfam_Sugar_tr,PatternScan_SUGAR_TRANSPORT_2 superfamily_MFS general substrate transporter,HMMPfam_Sugar_tr,PatternScan_SUGAR_TRANSPORT_2,PatternScan_SUGAR_TRANSPORT_1 - no_errors ZNF834 0 genome.wustl.edu 36 21 13391617 13391617 + Missense_Mutation SNP G G A novel unknown TCGA-20-1685-01A-01W-0633-09 TCGA-20-1685-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3256582d-896d-454d-8b5b-371bd75b3a12 335a7e51-3ae8-4c94-b3da-18ba5da1b200 21 13391617 13391617 G A SNP ZNF834 ENST00000305570 human ensembl 54_36p -1 known missense c.227 p.A76V 0.030 superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1 superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1 - no_start_codon C6orf114 85411 genome.wustl.edu 36 6 13578426 13578426 + Silent SNP G G C novel unknown TCGA-20-1685-01A-01W-0633-09 TCGA-20-1685-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3256582d-896d-454d-8b5b-371bd75b3a12 335a7e51-3ae8-4c94-b3da-18ba5da1b200 6 13578426 13578426 G C SNP C6orf114 NM_033069 human genbank 54_36p -1 predicted silent c.66 p.T22 0.040 NULL NULL - no_errors ESF1 51575 genome.wustl.edu 36 20 13711219 13711219 + Missense_Mutation SNP A A T novel unknown TCGA-20-1685-01A-01W-0633-09 TCGA-20-1685-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3256582d-896d-454d-8b5b-371bd75b3a12 335a7e51-3ae8-4c94-b3da-18ba5da1b200 20 13711219 13711219 A T SNP ESF1 NM_016649 human genbank 54_36p -1 provisional missense c.568 p.S190T 0.000 NULL NULL - no_errors CUBN 8029 genome.wustl.edu 36 10 16917193 16917193 + Missense_Mutation SNP G G T novel unknown TCGA-20-1685-01A-01W-0633-09 TCGA-20-1685-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3256582d-896d-454d-8b5b-371bd75b3a12 335a7e51-3ae8-4c94-b3da-18ba5da1b200 10 16917193 16917193 G T SNP CUBN NM_001081 human genbank 54_36p -1 reviewed missense c.10188 p.N3396K 1.000 superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042 superfamily_EGF/Laminin,HMMSmart_SM00179,HMMSmart_SM00181,HMMPfam_EGF,PatternScan_ASX_HYDROXYL,PatternScan_EGF_1,PatternScan_EGF_CA,HMMPfam_EGF_CA,PatternScan_EGF_2,superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042 - no_errors GGT3P 2679 genome.wustl.edu 36 22 17149686 17149686 + Missense_Mutation SNP T T G novel unknown TCGA-20-1685-01A-01W-0633-09 TCGA-20-1685-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3256582d-896d-454d-8b5b-371bd75b3a12 335a7e51-3ae8-4c94-b3da-18ba5da1b200 22 17149686 17149686 T G SNP GGT3P ENST00000255845 human ensembl 54_36p -1 known missense c.541 p.K181Q 0.000 HMMPfam_G_glu_transpept HMMPfam_G_glu_transpept,PatternScan_G_GLU_TRANSPEPTIDASE - no_errors RAD51AP2 729475 genome.wustl.edu 36 2 17555667 17555667 + Missense_Mutation SNP G G A novel unknown TCGA-20-1685-01A-01W-0633-09 TCGA-20-1685-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3256582d-896d-454d-8b5b-371bd75b3a12 335a7e51-3ae8-4c94-b3da-18ba5da1b200 2 17555667 17555667 G A SNP RAD51AP2 NM_001099218 human genbank 54_36p -1 provisional missense c.3365 p.P1122L 1.000 NULL NULL - no_errors LOC646090 646090 genome.wustl.edu 36 15 18716757 18716757 + RNA SNP G G A novel unknown TCGA-20-1685-01A-01W-0633-09 TCGA-20-1685-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3256582d-896d-454d-8b5b-371bd75b3a12 335a7e51-3ae8-4c94-b3da-18ba5da1b200 15 18716757 18716757 G A SNP LOC646090 XR_017120 human genbank 54_36p -1 model rna NULL NULL 0.801 - - - pseudogene ARL5B 221079 genome.wustl.edu 36 10 18997503 18997503 + Missense_Mutation SNP G G A novel unknown TCGA-20-1685-01A-01W-0633-09 TCGA-20-1685-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3256582d-896d-454d-8b5b-371bd75b3a12 335a7e51-3ae8-4c94-b3da-18ba5da1b200 10 18997503 18997503 G A SNP ARL5B NM_178815 human genbank 54_36p +1 validated missense c.146 p.G49E 1.000 HMMSmart_SM00178,HMMPfam_Arf,HMMSmart_SM00177,superfamily_P-loop containing nucleoside triphosphate hydrolases HMMSmart_SM00178,HMMPfam_Arf,HMMSmart_SM00177,superfamily_P-loop containing nucleoside triphosphate hydrolases,PatternScan_ARF - no_errors ABCB5 340273 genome.wustl.edu 36 7 20734569 20734569 + Missense_Mutation SNP C C G novel unknown TCGA-20-1685-01A-01W-0633-09 TCGA-20-1685-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3256582d-896d-454d-8b5b-371bd75b3a12 335a7e51-3ae8-4c94-b3da-18ba5da1b200 7 20734569 20734569 C G SNP ABCB5 NM_178559 human genbank 54_36p +1 validated missense c.1498 p.Q500E 0.989 superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain,HMMPfam_ABC_membrane superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_ABC_tran,HMMSmart_SM00382,PatternScan_ABC_TRANSPORTER_1,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain,HMMPfam_ABC_membrane - no_errors C15orf2 23742 genome.wustl.edu 36 15 22473027 22473027 + Missense_Mutation SNP C C A novel unknown TCGA-20-1685-01A-01W-0633-09 TCGA-20-1685-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3256582d-896d-454d-8b5b-371bd75b3a12 335a7e51-3ae8-4c94-b3da-18ba5da1b200 15 22473027 22473027 C A SNP C15orf2 NM_018958 human genbank 54_36p +1 validated missense c.920 p.P307H 0.000 NULL NULL - no_errors GABRB3 2562 genome.wustl.edu 36 15 24344342 24344342 + Silent SNP C C T novel unknown TCGA-20-1685-01A-01W-0633-09 TCGA-20-1685-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3256582d-896d-454d-8b5b-371bd75b3a12 335a7e51-3ae8-4c94-b3da-18ba5da1b200 15 24344342 24344342 C T SNP GABRB3 NM_000814 human genbank 54_36p -1 reviewed silent c.1113 p.S371 0.866 superfamily_Neurotransmitter-gated ion-channel transmembrane pore,HMMPfam_Neur_chan_memb superfamily_Nicotinic receptor ligand binding domain-like,HMMPfam_Neur_chan_LBD,PatternScan_NEUROTR_ION_CHANNEL,superfamily_Neurotransmitter-gated ion-channel transmembrane pore,HMMPfam_Neur_chan_memb - no_errors HERC2 8924 genome.wustl.edu 36 15 26088281 26088281 + Silent SNP C C A novel unknown TCGA-20-1685-01A-01W-0633-09 TCGA-20-1685-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3256582d-896d-454d-8b5b-371bd75b3a12 335a7e51-3ae8-4c94-b3da-18ba5da1b200 15 26088281 26088281 C A SNP HERC2 NM_004667 human genbank 54_36p -1 validated silent c.10173 p.L3391 0.995 NULL superfamily_RCC1/BLIP-II,HMMPfam_RCC1,HMMSmart_SM00706,superfamily_Cytochrome b5-like heme/steroid binding domain,HMMPfam_Cyt-b5,HMMPfam_MIB_HERC2,HMMPfam_ZZ,HMMSmart_SM00291,PatternScan_ZF_ZZ_1,superfamily_Galactose-binding domain-like,PatternScan_PROTEIN_KINASE_ATP,PatternScan_RCC1_2,superfamily_Hect E3 ligase catalytic domain,HMMSmart_SM00119,HMMPfam_HECT - no_errors FAM7A1 89838 genome.wustl.edu 36 15 28207190 28207190 + Missense_Mutation SNP G G T novel unknown TCGA-20-1685-01A-01W-0633-09 TCGA-20-1685-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3256582d-896d-454d-8b5b-371bd75b3a12 335a7e51-3ae8-4c94-b3da-18ba5da1b200 15 28207190 28207190 G T SNP FAM7A1 ENST00000341955 human ensembl 54_36p +1 known missense c.91 p.V31F 0.994 NULL NULL - no_errors USPL1 10208 genome.wustl.edu 36 13 30103033 30103033 + Missense_Mutation SNP G G A novel unknown TCGA-20-1685-01A-01W-0633-09 TCGA-20-1685-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3256582d-896d-454d-8b5b-371bd75b3a12 335a7e51-3ae8-4c94-b3da-18ba5da1b200 13 30103033 30103033 G A SNP USPL1 NM_005800 human genbank 54_36p +1 validated missense c.290 p.C97Y 0.000 NULL NULL - no_errors DEPDC5 9681 genome.wustl.edu 36 22 30548713 30548713 + Missense_Mutation SNP T T G novel unknown TCGA-20-1685-01A-01W-0633-09 TCGA-20-1685-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3256582d-896d-454d-8b5b-371bd75b3a12 335a7e51-3ae8-4c94-b3da-18ba5da1b200 22 30548713 30548713 T G SNP DEPDC5 NM_014662 human genbank 54_36p +1 validated missense c.2041 p.S681A 1.000 NULL "superfamily_""Winged helix"" DNA-binding domain,HMMPfam_DEP,HMMSmart_SM00049" - no_errors KRTAP13-4 284827 genome.wustl.edu 36 21 30724911 30724911 + Silent SNP A G G novel unknown TCGA-20-1685-01A-01W-0633-09 TCGA-20-1685-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3256582d-896d-454d-8b5b-371bd75b3a12 335a7e51-3ae8-4c94-b3da-18ba5da1b200 21 30724911 30724911 A G SNP KRTAP13-4 NM_181600 human genbank 54_36p +1 provisional silent c.447 p.P149 0.269 HMMPfam_PMG HMMPfam_PMG - no_errors LOC642513 642513 genome.wustl.edu 36 8 31197585 31197585 + RNA SNP C C T novel unknown TCGA-20-1685-01A-01W-0633-09 TCGA-20-1685-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3256582d-896d-454d-8b5b-371bd75b3a12 335a7e51-3ae8-4c94-b3da-18ba5da1b200 8 31197585 31197585 C T SNP LOC642513 XR_016174 human genbank 54_36p -1 model rna NULL NULL 1.000 - - - pseudogene LOC440093 440093 genome.wustl.edu 36 12 31836134 31836134 + Missense_Mutation SNP G G T novel unknown TCGA-20-1685-01A-01W-0633-09 TCGA-20-1685-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3256582d-896d-454d-8b5b-371bd75b3a12 335a7e51-3ae8-4c94-b3da-18ba5da1b200 12 31836134 31836134 G T SNP LOC440093 NM_001013699 human genbank 54_36p -1 validated missense c.234 p.F78L 1.000 superfamily_Histone-fold,HMMSmart_H3,HMMPfam_Histone superfamily_Histone-fold,PatternScan_HISTONE_H3_1,HMMSmart_H3,HMMPfam_Histone,PatternScan_HISTONE_H3_2 - no_errors NARG1L 79612 genome.wustl.edu 36 13 40803483 40803483 + Silent SNP A A G novel unknown TCGA-20-1685-01A-01W-0633-09 TCGA-20-1685-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3256582d-896d-454d-8b5b-371bd75b3a12 335a7e51-3ae8-4c94-b3da-18ba5da1b200 13 40803483 40803483 A G SNP NARG1L NM_024561 human genbank 54_36p +1 validated silent c.885 p.R295 1.000 superfamily_TPR-like superfamily_TPR-like,HMMSmart_SM00028,HMMPfam_TPR_2,HMMPfam_TPR_1 - no_errors SNX26 115703 genome.wustl.edu 36 19 40970296 40970296 + Missense_Mutation SNP G G C novel unknown TCGA-20-1685-01A-01W-0633-09 TCGA-20-1685-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3256582d-896d-454d-8b5b-371bd75b3a12 335a7e51-3ae8-4c94-b3da-18ba5da1b200 19 40970296 40970296 G C SNP SNX26 NM_052948 human genbank 54_36p +1 reviewed missense c.2506 p.A836P 0.085 NULL superfamily_PX,superfamily_SH3,HMMSmart_SH3,HMMPfam_SH3_2,superfamily_Rho_GAP,HMMSmart_RhoGAP,HMMPfam_RhoGAP - no_errors CNGA1 1259 genome.wustl.edu 36 4 47633887 47633887 + Missense_Mutation SNP G G T novel unknown TCGA-20-1685-01A-01W-0633-09 TCGA-20-1685-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3256582d-896d-454d-8b5b-371bd75b3a12 335a7e51-3ae8-4c94-b3da-18ba5da1b200 4 47633887 47633887 G T SNP CNGA1 NM_000087 human genbank 54_36p -1 reviewed missense c.1381 p.L461I 1.000 superfamily_cAMP-binding domain-like superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans,superfamily_cAMP-binding domain-like,HMMSmart_SM00100,HMMPfam_cNMP_binding,PatternScan_CNMP_BINDING_1,PatternScan_CNMP_BINDING_2 - no_errors KRT83 3889 genome.wustl.edu 36 12 50997817 50997817 + Missense_Mutation SNP C C G novel unknown TCGA-20-1685-01A-01W-0633-09 TCGA-20-1685-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3256582d-896d-454d-8b5b-371bd75b3a12 335a7e51-3ae8-4c94-b3da-18ba5da1b200 12 50997817 50997817 C G SNP KRT83 NM_002282 human genbank 54_36p -1 reviewed missense c.665 p.C222S 0.991 HMMPfam_Filament HMMPfam_Filament,PatternScan_IF - no_errors UNC13C 440279 genome.wustl.edu 36 15 52092563 52092563 + Nonsense_Mutation SNP C C A novel unknown TCGA-20-1685-01A-01W-0633-09 TCGA-20-1685-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3256582d-896d-454d-8b5b-371bd75b3a12 335a7e51-3ae8-4c94-b3da-18ba5da1b200 15 52092563 52092563 C A SNP UNC13C NM_001080534 human genbank 54_36p +1 provisional nonsense c.171 p.Y57* 0.529 NULL 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 ZNF280D 54816 genome.wustl.edu 36 15 54748372 54748372 + Missense_Mutation SNP G G C novel unknown TCGA-20-1685-01A-01W-0633-09 TCGA-20-1685-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3256582d-896d-454d-8b5b-371bd75b3a12 335a7e51-3ae8-4c94-b3da-18ba5da1b200 15 54748372 54748372 G C SNP ZNF280D NM_017661 human genbank 54_36p -1 validated missense c.1486 p.Q496E 1.000 HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1 superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-C2H2 - no_errors TBPL2 387332 genome.wustl.edu 36 14 54973283 54973283 + Missense_Mutation SNP G G T novel unknown TCGA-20-1685-01A-01W-0633-09 TCGA-20-1685-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3256582d-896d-454d-8b5b-371bd75b3a12 335a7e51-3ae8-4c94-b3da-18ba5da1b200 14 54973283 54973283 G T SNP TBPL2 NM_199047 human genbank 54_36p -1 validated missense c.357 p.H119Q 0.000 NULL superfamily_TFIID_C/glycos_N,HMMPfam_TBP,PatternScan_TFIID - no_errors KATNB1 10300 genome.wustl.edu 36 16 56328685 56328685 + Missense_Mutation SNP C C A novel unknown TCGA-20-1685-01A-01W-0633-09 TCGA-20-1685-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3256582d-896d-454d-8b5b-371bd75b3a12 335a7e51-3ae8-4c94-b3da-18ba5da1b200 16 56328685 56328685 C A SNP KATNB1 NM_005886 human genbank 54_36p +1 reviewed missense c.29 p.A10D 1.000 superfamily_WD40_like,HMMSmart_WD40,HMMPfam_WD40 superfamily_WD40_like,HMMSmart_WD40,HMMPfam_WD40,PatternScan_WD_REPEATS_1 - no_errors TSFM 10102 genome.wustl.edu 36 12 56476573 56476573 + Silent SNP G G A novel unknown TCGA-20-1685-01A-01W-0633-09 TCGA-20-1685-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3256582d-896d-454d-8b5b-371bd75b3a12 335a7e51-3ae8-4c94-b3da-18ba5da1b200 12 56476573 56476573 G A SNP TSFM NM_005726 human genbank 54_36p +1 validated silent c.981 p.S327 0.949 HMMPfam_EF_TS,superfamily_EF_TS superfamily_UBA_like,HMMPfam_UBA,PatternScan_EF_TS_1,superfamily_EF_TS,HMMPfam_EF_TS,PatternScan_EF_TS_2 - no_errors DST 667 genome.wustl.edu 36 6 56545641 56545641 + Missense_Mutation SNP C C G novel unknown TCGA-20-1685-01A-01W-0633-09 TCGA-20-1685-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3256582d-896d-454d-8b5b-371bd75b3a12 335a7e51-3ae8-4c94-b3da-18ba5da1b200 6 56545641 56545641 C G SNP DST NM_183380 human genbank 54_36p -1 reviewed missense c.6526 p.E2176Q 1.000 superfamily_Spectrin repeat,HMMPfam_Spectrin,HMMSmart_SM00150 superfamily_Calponin-homology domain CH-domain,HMMPfam_CH,PatternScan_ACTININ_1,HMMSmart_SM00033,PatternScan_ACTININ_2,superfamily_Spectrin repeat,HMMSmart_SM00150,HMMPfam_Spectrin,superfamily_EF-hand,HMMSmart_SM00054,HMMPfam_efhand,PatternScan_EF_HAND_1,HMMPfam_GAS2,HMMSmart_SM00243 - no_errors LOC644791 644791 genome.wustl.edu 36 7 66004800 66004800 + RNA SNP G A A novel unknown TCGA-20-1685-01A-01W-0633-09 TCGA-20-1685-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3256582d-896d-454d-8b5b-371bd75b3a12 335a7e51-3ae8-4c94-b3da-18ba5da1b200 7 66004800 66004800 G A SNP LOC644791 XR_037288 human genbank 54_36p +1 model rna NULL NULL 0.121 - - - pseudogene SSH3 54961 genome.wustl.edu 36 11 66830977 66830977 + Silent SNP G G A novel unknown TCGA-20-1685-01A-01W-0633-09 TCGA-20-1685-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3256582d-896d-454d-8b5b-371bd75b3a12 335a7e51-3ae8-4c94-b3da-18ba5da1b200 11 66830977 66830977 G A SNP SSH3 NM_017857 human genbank 54_36p +1 provisional silent c.432 p.T144 0.722 NULL HMMPfam_DEK_C,superfamily_(Phosphotyrosine protein) phosphatases II,HMMPfam_DSPc,HMMSmart_SM00195,PatternScan_TYR_PHOSPHATASE_1 - no_errors ARG2 384 genome.wustl.edu 36 14 67183204 67183204 + Nonsense_Mutation SNP G G T novel unknown TCGA-20-1685-01A-01W-0633-09 TCGA-20-1685-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3256582d-896d-454d-8b5b-371bd75b3a12 335a7e51-3ae8-4c94-b3da-18ba5da1b200 14 67183204 67183204 G T SNP ARG2 NM_001172 human genbank 54_36p +1 reviewed nonsense c.613 p.E205* 1.000 HMMPfam_Arginase,superfamily_Arginase/deacetylase HMMPfam_Arginase,superfamily_Arginase/deacetylase,PatternScan_ARGINASE_1,PatternScan_ARGINASE_2,PatternScan_ARGINASE_3 - no_errors IGHMBP2 3508 genome.wustl.edu 36 11 68430202 68430202 + Missense_Mutation SNP T T A novel unknown TCGA-20-1685-01A-01W-0633-09 TCGA-20-1685-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3256582d-896d-454d-8b5b-371bd75b3a12 335a7e51-3ae8-4c94-b3da-18ba5da1b200 11 68430202 68430202 T A SNP IGHMBP2 NM_002180 human genbank 54_36p +1 reviewed missense c.176 p.L59Q 1.000 NULL superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487,HMMSmart_SM00382,HMMSmart_SM00393,superfamily_R3H domain,HMMPfam_R3H,HMMSmart_SM00154 - no_errors KIF19 124602 genome.wustl.edu 36 17 69862585 69862585 + Missense_Mutation SNP G A A novel unknown TCGA-20-1685-01A-01W-0633-09 TCGA-20-1685-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3256582d-896d-454d-8b5b-371bd75b3a12 335a7e51-3ae8-4c94-b3da-18ba5da1b200 17 69862585 69862585 G A SNP KIF19 NM_153209 human genbank 54_36p +1 validated missense c.2776 p.V926M 0.148 NULL HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Kinesin,PatternScan_KINESIN_MOTOR_DOMAIN1 - no_errors INPPL1 3636 genome.wustl.edu 36 11 71616885 71616885 + Silent SNP T T C novel unknown TCGA-20-1685-01A-01W-0633-09 TCGA-20-1685-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3256582d-896d-454d-8b5b-371bd75b3a12 335a7e51-3ae8-4c94-b3da-18ba5da1b200 11 71616885 71616885 T C SNP INPPL1 NM_001567 human genbank 54_36p +1 reviewed silent c.186 p.Y62 1.000 superfamily_SSF55550,HMMSmart_SH2,HMMPfam_SH2 superfamily_SSF55550,HMMSmart_SH2,HMMPfam_SH2,superfamily_Exo_endo_phos,HMMSmart_IPPc,HMMPfam_Exo_endo_phos,superfamily_SAM_homology,HMMSmart_SAM,HMMPfam_SAM_1 - no_errors C2CD3 26005 genome.wustl.edu 36 11 73463068 73463068 + Missense_Mutation SNP G G T novel unknown TCGA-20-1685-01A-01W-0633-09 TCGA-20-1685-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3256582d-896d-454d-8b5b-371bd75b3a12 335a7e51-3ae8-4c94-b3da-18ba5da1b200 11 73463068 73463068 G T SNP C2CD3 NM_015531 human genbank 54_36p -1 validated missense c.4829 p.T1610N 0.003 NULL HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_C2 - no_errors PRUNE2 158471 genome.wustl.edu 36 9 78509817 78509817 + Missense_Mutation SNP A C C novel unknown TCGA-20-1685-01A-01W-0633-09 TCGA-20-1685-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3256582d-896d-454d-8b5b-371bd75b3a12 335a7e51-3ae8-4c94-b3da-18ba5da1b200 9 78509817 78509817 A C SNP PRUNE2 ENST00000376718 human ensembl 54_36p -1 known missense c.6116 p.L2039W 0.993 NULL superfamily_Ferritin-like,superfamily_CRAL/TRIO domain,HMMSmart_SM00516 - no_errors PHIP 55023 genome.wustl.edu 36 6 79757311 79757311 + Missense_Mutation SNP A A G novel unknown TCGA-20-1685-01A-01W-0633-09 TCGA-20-1685-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3256582d-896d-454d-8b5b-371bd75b3a12 335a7e51-3ae8-4c94-b3da-18ba5da1b200 6 79757311 79757311 A G SNP PHIP NM_017934 human genbank 54_36p -1 validated missense c.2312 p.V771A 0.865 NULL HMMSmart_SM00320,HMMPfam_WD40,superfamily_YVTN repeat-like/Quinoprotein amine dehydrogenase,PatternScan_WD_REPEATS_1,superfamily_Bromodomain,HMMSmart_SM00297,HMMPfam_Bromodomain,PatternScan_BROMODOMAIN_1 - no_errors LOC642413 642413 genome.wustl.edu 36 10 81620734 81620734 + RNA SNP A A C novel unknown TCGA-20-1685-01A-01W-0633-09 TCGA-20-1685-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3256582d-896d-454d-8b5b-371bd75b3a12 335a7e51-3ae8-4c94-b3da-18ba5da1b200 10 81620734 81620734 A C SNP LOC642413 XR_016155 human genbank 54_36p -1 model rna NULL NULL 1.000 - - - pseudogene PRKACB 5567 genome.wustl.edu 36 1 84441007 84441007 + Missense_Mutation SNP G G C novel unknown TCGA-20-1685-01A-01W-0633-09 TCGA-20-1685-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3256582d-896d-454d-8b5b-371bd75b3a12 335a7e51-3ae8-4c94-b3da-18ba5da1b200 1 84441007 84441007 G C SNP PRKACB NM_182948 human genbank 54_36p +1 reviewed missense c.837 p.M279I 1.000 superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST,HMMSmart_S_TK_X - no_errors MAN2A2 4122 genome.wustl.edu 36 15 89264017 89264017 + Missense_Mutation SNP G G T novel unknown TCGA-20-1685-01A-01W-0633-09 TCGA-20-1685-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3256582d-896d-454d-8b5b-371bd75b3a12 335a7e51-3ae8-4c94-b3da-18ba5da1b200 15 89264017 89264017 G T SNP MAN2A2 NM_006122 human genbank 54_36p +1 validated missense c.3449 p.G1150V 1.000 NULL superfamily_Glyco_hydro/deAcase_b/a-brl,HMMPfam_Glyco_hydro_38,superfamily_SSF88688,HMMPfam_Alpha-mann_mid,superfamily_Gal_mut_like,HMMPfam_Glyco_hydro_38C - no_errors EEA1 8411 genome.wustl.edu 36 12 91744092 91744092 + Missense_Mutation SNP G G C novel unknown TCGA-20-1685-01A-01W-0633-09 TCGA-20-1685-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3256582d-896d-454d-8b5b-371bd75b3a12 335a7e51-3ae8-4c94-b3da-18ba5da1b200 12 91744092 91744092 G C SNP EEA1 NM_003566 human genbank 54_36p -1 validated missense c.1505 p.A502G 1.000 NULL HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_FYVE_PHD_ZnF,HMMSmart_FYVE,HMMPfam_FYVE - no_errors C2orf29 55571 genome.wustl.edu 36 2 101245497 101245497 + Missense_Mutation SNP C C G novel unknown TCGA-20-1685-01A-01W-0633-09 TCGA-20-1685-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3256582d-896d-454d-8b5b-371bd75b3a12 335a7e51-3ae8-4c94-b3da-18ba5da1b200 2 101245497 101245497 C G SNP C2orf29 NM_017546 human genbank 54_36p +1 validated missense c.744 p.D248E 1.000 NULL HMMPfam_DUF2363 - no_errors SENP7 57337 genome.wustl.edu 36 3 102568180 102568180 + Silent SNP G G A novel unknown TCGA-20-1685-01A-01W-0633-09 TCGA-20-1685-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3256582d-896d-454d-8b5b-371bd75b3a12 335a7e51-3ae8-4c94-b3da-18ba5da1b200 3 102568180 102568180 G A SNP SENP7 NM_020654 human genbank 54_36p -1 validated silent c.1102 p.L368 0.001 NULL superfamily_Cysteine proteinases,HMMPfam_Peptidase_C48 - no_errors SARS 6301 genome.wustl.edu 36 1 109572541 109572541 + Silent SNP G G A novel unknown TCGA-20-1685-01A-01W-0633-09 TCGA-20-1685-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3256582d-896d-454d-8b5b-371bd75b3a12 335a7e51-3ae8-4c94-b3da-18ba5da1b200 1 109572541 109572541 G A SNP SARS NM_006513 human genbank 54_36p +1 reviewed silent c.252 p.V84 0.003 HMMPfam_Seryl_tRNA_N,superfamily_tRNA-binding arm HMMPfam_Seryl_tRNA_N,superfamily_tRNA-binding arm,superfamily_Class II aaRS and biotin synthetases,HMMPfam_tRNA-synt_2b - no_errors CELSR2 1952 genome.wustl.edu 36 1 109596609 109596609 + Silent SNP G G A novel unknown TCGA-20-1685-01A-01W-0633-09 TCGA-20-1685-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3256582d-896d-454d-8b5b-371bd75b3a12 335a7e51-3ae8-4c94-b3da-18ba5da1b200 1 109596609 109596609 G A SNP CELSR2 NM_001408 human genbank 54_36p +1 reviewed silent c.2385 p.K795 1.000 superfamily_Cadherin,HMMPfam_Cadherin,HMMSmart_CA PatternScan_G_PROTEIN_RECEP_F2_1,PatternScan_G_PROTEIN_RECEP_F2_2,superfamily_Cadherin,HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,superfamily_SSF57196,HMMSmart_EGF,HMMPfam_EGF,PatternScan_EGF_1,PatternScan_EGF_2,HMMSmart_EGF_CA,superfamily_ConA_like_lec_gl,HMMSmart_LamG,HMMPfam_Laminin_G_2,PatternScan_ASX_HYDROXYL,HMMSmart_TNFR,HMMPfam_Laminin_EGF,HMMSmart_EGF_Lam,PatternScan_EGF_LAM_1,HMMSmart_HormR,HMMPfam_HRM,HMMPfam_GPS,HMMSmart_GPS,HMMPfam_7tm_2 - no_errors TTF2 8458 genome.wustl.edu 36 1 117430587 117430587 + Missense_Mutation SNP A A T novel unknown TCGA-20-1685-01A-01W-0633-09 TCGA-20-1685-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3256582d-896d-454d-8b5b-371bd75b3a12 335a7e51-3ae8-4c94-b3da-18ba5da1b200 1 117430587 117430587 A T SNP TTF2 NM_003594 human genbank 54_36p +1 reviewed missense c.2080 p.T694S 1.000 superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487,HMMPfam_SNF2_N HMMPfam_zf-GRF,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487,HMMPfam_SNF2_N,PatternScan_DEAH_ATP_HELICASE,HMMSmart_SM00490,HMMPfam_Helicase_C - no_errors PDZD8 118987 genome.wustl.edu 36 10 119033958 119033958 + Missense_Mutation SNP G G A novel unknown TCGA-20-1685-01A-01W-0633-09 TCGA-20-1685-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3256582d-896d-454d-8b5b-371bd75b3a12 335a7e51-3ae8-4c94-b3da-18ba5da1b200 10 119033958 119033958 G A SNP PDZD8 NM_173791 human genbank 54_36p -1 provisional missense c.2276 p.A759V 1.000 NULL PatternScan_ZF_DAG_PE_1,superfamily_PDZ,HMMPfam_PDZ,HMMSmart_PDZ,superfamily_SSF57889,HMMPfam_C1_1,HMMSmart_C1 - no_errors ARHGEF12 23365 genome.wustl.edu 36 11 119852635 119852635 + Silent SNP A A G novel unknown TCGA-20-1685-01A-01W-0633-09 TCGA-20-1685-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3256582d-896d-454d-8b5b-371bd75b3a12 335a7e51-3ae8-4c94-b3da-18ba5da1b200 11 119852635 119852635 A G SNP ARHGEF12 NM_015313 human genbank 54_36p +1 reviewed silent c.3333 p.E1111 1.000 superfamily_PH domain-like,HMMSmart_SM00233 superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228,HMMPfam_RGS-like,superfamily_Regulator of G-protein signaling RGS,superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325,PatternScan_DH_1,superfamily_PH domain-like,HMMSmart_SM00233 - no_errors GRIK4 2900 genome.wustl.edu 36 11 120207852 120207852 + Missense_Mutation SNP G G A novel unknown TCGA-20-1685-01A-01W-0633-09 TCGA-20-1685-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3256582d-896d-454d-8b5b-371bd75b3a12 335a7e51-3ae8-4c94-b3da-18ba5da1b200 11 120207852 120207852 G A SNP GRIK4 NM_014619 human genbank 54_36p +1 reviewed missense c.593 p.R198Q 1.000 superfamily_SSF53822,HMMPfam_ANF_receptor superfamily_SSF53822,HMMPfam_ANF_receptor,HMMSmart_PBPe,superfamily_SSF53850,HMMPfam_Lig_chan-Glu_bd,HMMPfam_Lig_chan - no_errors LRRC43 254050 genome.wustl.edu 36 12 121240649 121240649 + Missense_Mutation SNP G G A novel unknown TCGA-20-1685-01A-01W-0633-09 TCGA-20-1685-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3256582d-896d-454d-8b5b-371bd75b3a12 335a7e51-3ae8-4c94-b3da-18ba5da1b200 12 121240649 121240649 G A SNP LRRC43 NM_001098519 human genbank 54_36p +1 validated missense c.682 p.D228N 1.000 superfamily_Outer arm dynein light chain 1 superfamily_Outer arm dynein light chain 1 - no_errors TMEM132B 114795 genome.wustl.edu 36 12 124704231 124704231 + Silent SNP A A G novel unknown TCGA-20-1685-01A-01W-0633-09 TCGA-20-1685-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3256582d-896d-454d-8b5b-371bd75b3a12 335a7e51-3ae8-4c94-b3da-18ba5da1b200 12 124704231 124704231 A G SNP TMEM132B NM_052907 human genbank 54_36p +1 provisional silent c.2259 p.E753 1.000 NULL NULL - no_errors NUP188 23511 genome.wustl.edu 36 9 130808691 130808691 + Missense_Mutation SNP G G C novel unknown TCGA-20-1685-01A-01W-0633-09 TCGA-20-1685-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3256582d-896d-454d-8b5b-371bd75b3a12 335a7e51-3ae8-4c94-b3da-18ba5da1b200 9 130808691 130808691 G C SNP NUP188 NM_015354 human genbank 54_36p +1 validated missense c.5163 p.K1721N 0.953 NULL HMMPfam_Nup188 - no_errors GLB1L2 89944 genome.wustl.edu 36 11 133746871 133746871 + Silent SNP A A C novel unknown TCGA-20-1685-01A-01W-0633-09 TCGA-20-1685-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3256582d-896d-454d-8b5b-371bd75b3a12 335a7e51-3ae8-4c94-b3da-18ba5da1b200 11 133746871 133746871 A C SNP GLB1L2 NM_138342 human genbank 54_36p +1 provisional silent c.1444 p.R482 1.000 NULL HMMPfam_Glyco_hydro_35,superfamily_Glyco_hydro_cat,PatternScan_GLYCOSYL_HYDROL_F35 - no_errors SLC9A6 10479 genome.wustl.edu 36 X 134920323 134920323 + Missense_Mutation SNP C C T novel unknown TCGA-20-1685-01A-01W-0633-09 TCGA-20-1685-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3256582d-896d-454d-8b5b-371bd75b3a12 335a7e51-3ae8-4c94-b3da-18ba5da1b200 X 134920323 134920323 C T SNP SLC9A6 NM_001042537 human genbank 54_36p +1 validated missense c.956 p.A319V 1.000 HMMPfam_Na_H_Exchanger HMMPfam_Na_H_Exchanger - no_errors ATP11C 286410 genome.wustl.edu 36 X 138697038 138697038 + Nonsense_Mutation SNP C C A novel unknown TCGA-20-1685-01A-01W-0633-09 TCGA-20-1685-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3256582d-896d-454d-8b5b-371bd75b3a12 335a7e51-3ae8-4c94-b3da-18ba5da1b200 X 138697038 138697038 C A SNP ATP11C NM_173694 human genbank 54_36p -1 validated nonsense c.1561 p.G521* 0.727 superfamily_HAD-like,superfamily_Metal cation-transporting ATPase ATP-binding domain N HMMPfam_E1-E2_ATPase,superfamily_Calcium ATPase transduction domain A,superfamily_HAD-like,PatternScan_ATPASE_E1_E2,superfamily_Metal cation-transporting ATPase ATP-binding domain N - no_errors PGLYRP4 57115 genome.wustl.edu 36 1 151569930 151569930 + Silent SNP T T C novel unknown TCGA-20-1685-01A-01W-0633-09 TCGA-20-1685-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3256582d-896d-454d-8b5b-371bd75b3a12 335a7e51-3ae8-4c94-b3da-18ba5da1b200 1 151569930 151569930 T C SNP PGLYRP4 NM_020393 human genbank 54_36p -1 validated silent c.1059 p.R353 0.001 superfamily_N-acetylmuramoyl-L-alanine amidase-like,HMMSmart_SM00644,HMMPfam_Amidase_2 superfamily_N-acetylmuramoyl-L-alanine amidase-like,HMMSmart_SM00701,HMMSmart_SM00644,HMMPfam_Amidase_2 - no_errors GALNT13 114805 genome.wustl.edu 36 2 154807644 154807644 + Silent SNP G G A novel unknown TCGA-20-1685-01A-01W-0633-09 TCGA-20-1685-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3256582d-896d-454d-8b5b-371bd75b3a12 335a7e51-3ae8-4c94-b3da-18ba5da1b200 2 154807644 154807644 G A SNP GALNT13 NM_052917 human genbank 54_36p +1 validated silent c.666 p.L222 1.000 superfamily_Nucleotide-diphospho-sugar transferases,HMMPfam_Glycos_transf_2 superfamily_Nucleotide-diphospho-sugar transferases,HMMPfam_Glycos_transf_2,superfamily_Ricin B-like lectins,HMMSmart_SM00458,HMMPfam_Ricin_B_lectin - no_errors FGB 2244 genome.wustl.edu 36 4 155709787 155709787 + Missense_Mutation SNP G G T novel unknown TCGA-20-1685-01A-01W-0633-09 TCGA-20-1685-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3256582d-896d-454d-8b5b-371bd75b3a12 335a7e51-3ae8-4c94-b3da-18ba5da1b200 4 155709787 155709787 G T SNP FGB NM_005141 human genbank 54_36p +1 reviewed missense c.836 p.W279L 1.000 superfamily_Fibrinogen C-terminal domain-like,HMMSmart_SM00186,HMMPfam_Fibrinogen_C HMMPfam_Fib_beta,superfamily_Fibrinogen C-terminal domain-like,HMMSmart_SM00186,HMMPfam_Fibrinogen_C,PatternScan_FIBRIN_AG_C_DOMAIN - no_errors PK4P 0 genome.wustl.edu 36 2 159227714 159227714 + Missense_Mutation SNP G G C novel unknown TCGA-20-1685-01A-01W-0633-09 TCGA-20-1685-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3256582d-896d-454d-8b5b-371bd75b3a12 335a7e51-3ae8-4c94-b3da-18ba5da1b200 2 159227714 159227714 G C SNP PK4P ENST00000389756 human ensembl 54_36p +1 known missense c.1820 p.C607S 0.987 NULL superfamily_ARM repeat,HMMPfam_Arm,HMMSmart_SM00185 - no_errors NUDCD2 134492 genome.wustl.edu 36 5 162817173 162817173 + Missense_Mutation SNP T T C novel unknown TCGA-20-1685-01A-01W-0633-09 TCGA-20-1685-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3256582d-896d-454d-8b5b-371bd75b3a12 335a7e51-3ae8-4c94-b3da-18ba5da1b200 5 162817173 162817173 T C SNP NUDCD2 NM_145266 human genbank 54_36p -1 provisional missense c.211 p.I71V 1.000 superfamily_HSP20-like chaperones,HMMPfam_CS superfamily_HSP20-like chaperones,HMMPfam_CS - no_errors RGS21 431704 genome.wustl.edu 36 1 190601732 190601732 + Missense_Mutation SNP T T G novel unknown TCGA-20-1685-01A-01W-0633-09 TCGA-20-1685-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3256582d-896d-454d-8b5b-371bd75b3a12 335a7e51-3ae8-4c94-b3da-18ba5da1b200 1 190601732 190601732 T G SNP RGS21 NM_001039152 human genbank 54_36p +1 provisional missense c.314 p.L105R 0.999 superfamily_Regulat_G_prot_signal_superfam,HMMPfam_RGS,HMMSmart_RGS superfamily_Regulat_G_prot_signal_superfam,HMMPfam_RGS,HMMSmart_RGS - no_errors CFHR5 81494 genome.wustl.edu 36 1 195240444 195240444 + Missense_Mutation SNP C C A novel unknown TCGA-20-1685-01A-01W-0633-09 TCGA-20-1685-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3256582d-896d-454d-8b5b-371bd75b3a12 335a7e51-3ae8-4c94-b3da-18ba5da1b200 1 195240444 195240444 C A SNP CFHR5 NM_030787 human genbank 54_36p +1 validated missense c.1361 p.S454Y 0.305 superfamily_Complement_control_module,HMMPfam_Sushi,HMMSmart_CCP superfamily_Complement_control_module,HMMPfam_Sushi,HMMSmart_CCP - no_errors ETNK2 55224 genome.wustl.edu 36 1 202372998 202372998 + Missense_Mutation SNP C C T novel unknown TCGA-20-1685-01A-01W-0633-09 TCGA-20-1685-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3256582d-896d-454d-8b5b-371bd75b3a12 335a7e51-3ae8-4c94-b3da-18ba5da1b200 1 202372998 202372998 C T SNP ETNK2 NM_018208 human genbank 54_36p -1 reviewed missense c.871 p.V291M 1.000 superfamily_Kinase_like,HMMPfam_Choline_kinase superfamily_Kinase_like,HMMPfam_Choline_kinase - no_errors ACTN2 88 genome.wustl.edu 36 1 234977609 234977609 + Missense_Mutation SNP G G T novel unknown TCGA-20-1685-01A-01W-0633-09 TCGA-20-1685-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 3256582d-896d-454d-8b5b-371bd75b3a12 335a7e51-3ae8-4c94-b3da-18ba5da1b200 1 234977609 234977609 G T SNP ACTN2 NM_001103 human genbank 54_36p +1 reviewed missense c.1426 p.A476S 1.000 superfamily_Spectrin repeat,HMMPfam_Spectrin,HMMSmart_SM00150 superfamily_Calponin-homology domain CH-domain,HMMPfam_CH,PatternScan_ACTININ_1,HMMSmart_SM00033,PatternScan_ACTININ_2,superfamily_Spectrin repeat,HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_EF-hand,HMMSmart_SM00054,HMMPfam_efhand,HMMPfam_efhand_Ca_insen - no_errors