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-CO2 0 genome.wustl.edu 36 MT 7845 7845 + Missense_Mutation SNP A A G novel unknown TCGA-29-1695-01A-01W-0633-09 TCGA-29-1695-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bbf1daec-d2ee-4279-932a-024e03ac9273 03e23f9c-96bb-44a0-9f3f-db563f94848b MT 7845 7845 A G SNP MT-CO2 ENST00000361739 human ensembl 54_36p +1 known missense c.259 p.T87A NULL superfamily_Cytochrome c oxidase subunit II-like transmembrane region HMMPfam_COX2_TM,superfamily_Cytochrome c oxidase subunit II-like transmembrane region,superfamily_Cupredoxins,HMMPfam_COX2,PatternScan_COX2 - no_errors MT-ATP6 4508 genome.wustl.edu 36 MT 8937 8937 + Missense_Mutation SNP T T C novel unknown TCGA-29-1695-01A-01W-0633-09 TCGA-29-1695-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bbf1daec-d2ee-4279-932a-024e03ac9273 03e23f9c-96bb-44a0-9f3f-db563f94848b MT 8937 8937 T C SNP MT-ATP6 ENST00000361899 human ensembl 54_36p +1 known missense c.410 p.L137P NULL HMMPfam_ATP-synt_A,superfamily_ATPase_F0_A HMMPfam_ATP-synt_A,superfamily_ATPase_F0_A,PatternScan_ATPASE_A - no_errors MT-ATP6 4508 genome.wustl.edu 36 MT 8949 8949 + Missense_Mutation SNP T T C novel unknown TCGA-29-1695-01A-01W-0633-09 TCGA-29-1695-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bbf1daec-d2ee-4279-932a-024e03ac9273 03e23f9c-96bb-44a0-9f3f-db563f94848b MT 8949 8949 T C SNP MT-ATP6 ENST00000361899 human ensembl 54_36p +1 known missense c.422 p.L141P NULL HMMPfam_ATP-synt_A,superfamily_ATPase_F0_A HMMPfam_ATP-synt_A,PatternScan_ATPASE_A,superfamily_ATPase_F0_A - no_errors MT-ATP6 4508 genome.wustl.edu 36 MT 8994 8994 + Missense_Mutation SNP T T C novel unknown TCGA-29-1695-01A-01W-0633-09 TCGA-29-1695-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bbf1daec-d2ee-4279-932a-024e03ac9273 03e23f9c-96bb-44a0-9f3f-db563f94848b MT 8994 8994 T C SNP MT-ATP6 ENST00000361899 human ensembl 54_36p +1 known missense c.467 p.L156P NULL HMMPfam_ATP-synt_A,PatternScan_ATPASE_A,superfamily_ATPase_F0_A HMMPfam_ATP-synt_A,PatternScan_ATPASE_A,superfamily_ATPase_F0_A - no_errors ENSG00000215746 0 genome.wustl.edu 36 NT_113888 11090 11090 + Splice_Site SNP G G A novel unknown TCGA-29-1695-01A-01W-0633-09 TCGA-29-1695-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bbf1daec-d2ee-4279-932a-024e03ac9273 03e23f9c-96bb-44a0-9f3f-db563f94848b NT_113888 11090 11090 G A SNP ENSG00000215746 ENST00000400836 human ensembl 54_36p -1 novel splice_site c.NULL NULL NULL - - - no_coding_region:pseudogene MT-ND4 4538 genome.wustl.edu 36 MT 11173 11173 + Missense_Mutation SNP A A G novel unknown TCGA-29-1695-01A-01W-0633-09 TCGA-29-1695-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bbf1daec-d2ee-4279-932a-024e03ac9273 03e23f9c-96bb-44a0-9f3f-db563f94848b MT 11173 11173 A G SNP MT-ND4 ENST00000361381 human ensembl 54_36p +1 known missense c.413 p.N138S NULL HMMPfam_Oxidored_q1 HMMPfam_Oxidored_q5_N,HMMPfam_Oxidored_q1 - no_stop_codon:bad_bp_length_for_coding_region LONP1 9361 genome.wustl.edu 36 19 5658747 5658747 + Silent SNP G G A novel unknown TCGA-29-1695-01A-01W-0633-09 TCGA-29-1695-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bbf1daec-d2ee-4279-932a-024e03ac9273 03e23f9c-96bb-44a0-9f3f-db563f94848b 19 5658747 5658747 G A SNP LONP1 NM_004793 human genbank 54_36p -1 reviewed silent c.1023 p.A341 0.974 HMMPfam_LON,HMMSmart_LON HMMPfam_LON,HMMSmart_LON,superfamily_SSF52540,HMMSmart_AAA,HMMPfam_AAA,HMMPfam_Lon_C,superfamily_Ribosomal_S5_D2-typ_fold,PatternScan_LON_SER - no_errors LOC100133229 0 genome.wustl.edu 36 12 7174229 7174229 + Missense_Mutation SNP A A G novel unknown TCGA-29-1695-01A-01W-0633-09 TCGA-29-1695-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bbf1daec-d2ee-4279-932a-024e03ac9273 03e23f9c-96bb-44a0-9f3f-db563f94848b 12 7174229 7174229 A G SNP LOC100133229 XM_001721004 human genbank 54_36p -1 model missense c.125 p.V42A 1.000 NULL NULL - no_errors CD68 968 genome.wustl.edu 36 17 7424284 7424284 + Missense_Mutation SNP C C T novel unknown TCGA-29-1695-01A-01W-0633-09 TCGA-29-1695-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bbf1daec-d2ee-4279-932a-024e03ac9273 03e23f9c-96bb-44a0-9f3f-db563f94848b 17 7424284 7424284 C T SNP CD68 NM_001251 human genbank 54_36p +1 reviewed missense c.482 p.T161M 0.003 HMMPfam_Lamp HMMPfam_Lamp,PatternScan_LAMP_2 - no_errors TP53 7157 genome.wustl.edu 36 17 7519128 7519128 + Missense_Mutation SNP C C A novel unknown TCGA-29-1695-01A-01W-0633-09 TCGA-29-1695-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bbf1daec-d2ee-4279-932a-024e03ac9273 03e23f9c-96bb-44a0-9f3f-db563f94848b 17 7519128 7519128 C A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.527 p.C176F 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 TPTE 7179 genome.wustl.edu 36 21 9966555 9966555 + Missense_Mutation SNP G G A novel unknown TCGA-29-1695-01A-01W-0633-09 TCGA-29-1695-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bbf1daec-d2ee-4279-932a-024e03ac9273 03e23f9c-96bb-44a0-9f3f-db563f94848b 21 9966555 9966555 G A SNP TPTE NM_199261 human genbank 54_36p -1 validated missense c.550 p.L184F 0.000 superfamily_Voltage-gated potassium channels superfamily_Voltage-gated potassium channels,superfamily_(Phosphotyrosine protein) phosphatases II,PatternScan_TYR_PHOSPHATASE_1,HMMPfam_PTEN_C2,superfamily_C2 domain (Calcium/lipid-binding domain CaLB) - no_errors ATG4D 84971 genome.wustl.edu 36 19 10520588 10520588 + Missense_Mutation SNP G G A novel unknown TCGA-29-1695-01A-01W-0633-09 TCGA-29-1695-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bbf1daec-d2ee-4279-932a-024e03ac9273 03e23f9c-96bb-44a0-9f3f-db563f94848b 19 10520588 10520588 G A SNP ATG4D NM_032885 human genbank 54_36p +1 reviewed missense c.844 p.A282T 1.000 HMMPfam_Peptidase_C54 HMMPfam_Peptidase_C54 - no_errors TRDMT1 1787 genome.wustl.edu 36 10 17239460 17239460 + Silent SNP C C A novel unknown TCGA-29-1695-01A-01W-0633-09 TCGA-29-1695-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bbf1daec-d2ee-4279-932a-024e03ac9273 03e23f9c-96bb-44a0-9f3f-db563f94848b 10 17239460 17239460 C A SNP TRDMT1 NM_004412 human genbank 54_36p -1 reviewed silent c.873 p.V291 0.700 superfamily_S-adenosyl-L-methionine-dependent methyltransferases superfamily_S-adenosyl-L-methionine-dependent methyltransferases,HMMPfam_DNA_methylase,PatternScan_C5_MTASE_2 - no_errors MAP1S 55201 genome.wustl.edu 36 19 17697856 17697856 + Silent SNP G G A novel unknown TCGA-29-1695-01A-01W-0633-09 TCGA-29-1695-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bbf1daec-d2ee-4279-932a-024e03ac9273 03e23f9c-96bb-44a0-9f3f-db563f94848b 19 17697856 17697856 G A SNP MAP1S NM_018174 human genbank 54_36p +1 validated silent c.663 p.P221 0.081 NULL NULL - no_errors ETNK1 55500 genome.wustl.edu 36 12 22687977 22687977 + Missense_Mutation SNP G G C novel unknown TCGA-29-1695-01A-01W-0633-09 TCGA-29-1695-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bbf1daec-d2ee-4279-932a-024e03ac9273 03e23f9c-96bb-44a0-9f3f-db563f94848b 12 22687977 22687977 G C SNP ETNK1 NM_018638 human genbank 54_36p +1 reviewed missense c.437 p.G146A 1.000 superfamily_Kinase_like superfamily_Kinase_like,HMMPfam_Choline_kinase - no_errors PPARGC1A 10891 genome.wustl.edu 36 4 23413042 23413042 + Missense_Mutation SNP C C T novel unknown TCGA-29-1695-01A-01W-0633-09 TCGA-29-1695-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bbf1daec-d2ee-4279-932a-024e03ac9273 03e23f9c-96bb-44a0-9f3f-db563f94848b 4 23413042 23413042 C T SNP PPARGC1A NM_013261 human genbank 54_36p -1 reviewed missense c.2044 p.G682S 1.000 superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1 superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1 - no_errors STK31 56164 genome.wustl.edu 36 7 23821313 23821313 + Missense_Mutation SNP A A G novel unknown TCGA-29-1695-01A-01W-0633-09 TCGA-29-1695-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bbf1daec-d2ee-4279-932a-024e03ac9273 03e23f9c-96bb-44a0-9f3f-db563f94848b 7 23821313 23821313 A G SNP STK31 NM_031414 human genbank 54_36p +1 reviewed missense c.2786 p.E929G 0.991 HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) HMMPfam_TUDOR,superfamily_Tudor/PWWP/MBT,HMMSmart_SM00333,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) - no_errors ADAMTS5 11096 genome.wustl.edu 36 21 27224138 27224138 + Silent SNP G G A novel unknown TCGA-29-1695-01A-01W-0633-09 TCGA-29-1695-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bbf1daec-d2ee-4279-932a-024e03ac9273 03e23f9c-96bb-44a0-9f3f-db563f94848b 21 27224138 27224138 G A SNP ADAMTS5 NM_007038 human genbank 54_36p -1 reviewed silent c.2163 p.C721 0.999 NULL "HMMPfam_Pep_M12B_propep,superfamily_Metalloproteases (""zincins"") catalytic domain,HMMPfam_Reprolysin,HMMSmart_SM00608,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,HMMPfam_ADAM_spacer1" - no_errors ADAMTS5 11096 genome.wustl.edu 36 21 27237601 27237601 + Silent SNP G G A novel unknown TCGA-29-1695-01A-01W-0633-09 TCGA-29-1695-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bbf1daec-d2ee-4279-932a-024e03ac9273 03e23f9c-96bb-44a0-9f3f-db563f94848b 21 27237601 27237601 G A SNP ADAMTS5 NM_007038 human genbank 54_36p -1 reviewed silent c.1374 p.A458 0.998 "HMMPfam_Reprolysin,superfamily_Metalloproteases (""zincins"") catalytic domain" "HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat,HMMPfam_Reprolysin,HMMPfam_Pep_M12B_propep,HMMSmart_SM00608,HMMPfam_ADAM_spacer1,superfamily_Metalloproteases (""zincins"") catalytic domain" - no_errors CFB 629 genome.wustl.edu 36 6 32027702 32027702 + Silent SNP C C T novel unknown TCGA-29-1695-01A-01W-0633-09 TCGA-29-1695-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bbf1daec-d2ee-4279-932a-024e03ac9273 03e23f9c-96bb-44a0-9f3f-db563f94848b 6 32027702 32027702 C T SNP CFB NM_001710 human genbank 54_36p +1 reviewed silent c.2211 p.H737 0.311 superfamily_Trypsin-like serine proteases,HMMPfam_Trypsin,HMMSmart_SM00020 superfamily_Complement control module/SCR domain,HMMSmart_SM00032,HMMPfam_Sushi,HMMSmart_SM00327,superfamily_vWA-like,HMMPfam_VWA,superfamily_Trypsin-like serine proteases,HMMPfam_Trypsin,HMMSmart_SM00020,PatternScan_TRYPSIN_HIS,PatternScan_TRYPSIN_SER - no_errors GPI 2821 genome.wustl.edu 36 19 39548056 39548056 + Missense_Mutation SNP A A G novel unknown TCGA-29-1695-01A-01W-0633-09 TCGA-29-1695-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bbf1daec-d2ee-4279-932a-024e03ac9273 03e23f9c-96bb-44a0-9f3f-db563f94848b 19 39548056 39548056 A G SNP GPI ENST00000392234 human ensembl 54_36p +1 known missense c.52 p.M18V 0.012 NULL superfamily_SSF53697,HMMPfam_PGI - no_start_codon LOC285634 285634 genome.wustl.edu 36 5 39756825 39756825 + RNA SNP C C T novel unknown TCGA-29-1695-01A-01W-0633-09 TCGA-29-1695-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bbf1daec-d2ee-4279-932a-024e03ac9273 03e23f9c-96bb-44a0-9f3f-db563f94848b 5 39756825 39756825 C T SNP LOC285634 XR_017261 human genbank 54_36p -1 model rna NULL NULL 1.000 - - - pseudogene DMKN 93099 genome.wustl.edu 36 19 40694244 40694244 + Missense_Mutation SNP C C T novel unknown TCGA-29-1695-01A-01W-0633-09 TCGA-29-1695-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bbf1daec-d2ee-4279-932a-024e03ac9273 03e23f9c-96bb-44a0-9f3f-db563f94848b 19 40694244 40694244 C T SNP DMKN NM_033317 human genbank 54_36p -1 reviewed missense c.827 p.S276N 0.007 NULL NULL - no_errors LRFN3 79414 genome.wustl.edu 36 19 41127419 41127419 + Silent SNP C C T novel unknown TCGA-29-1695-01A-01W-0633-09 TCGA-29-1695-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bbf1daec-d2ee-4279-932a-024e03ac9273 03e23f9c-96bb-44a0-9f3f-db563f94848b 19 41127419 41127419 C T SNP LRFN3 NM_024509 human genbank 54_36p +1 provisional silent c.1545 p.C515 0.300 NULL HMMSmart_LRRNT,superfamily_SSF52058,HMMSmart_LRR_TYP,HMMPfam_LRR_1,HMMSmart_LRRCT,superfamily_SSF48726,HMMPfam_I-set,HMMSmart_IGc2,superfamily_FN_III-like,HMMPfam_fn3,HMMSmart_FN3 - no_errors TCEB3B 51224 genome.wustl.edu 36 18 42814007 42814007 + Missense_Mutation SNP C C T novel unknown TCGA-29-1695-01A-01W-0633-09 TCGA-29-1695-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bbf1daec-d2ee-4279-932a-024e03ac9273 03e23f9c-96bb-44a0-9f3f-db563f94848b 18 42814007 42814007 C T SNP TCEB3B NM_016427 human genbank 54_36p -1 reviewed missense c.1627 p.A543T 0.000 NULL HMMPfam_TFIIS,HMMSmart_TFS2N,HMMPfam_Elongin_A - no_errors LOC729143 729143 genome.wustl.edu 36 3 44594506 44594506 + RNA SNP A A C novel unknown TCGA-29-1695-01A-01W-0633-09 TCGA-29-1695-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bbf1daec-d2ee-4279-932a-024e03ac9273 03e23f9c-96bb-44a0-9f3f-db563f94848b 3 44594506 44594506 A C SNP LOC729143 XR_015907 human genbank 54_36p -1 model rna NULL NULL 0.102 - - - pseudogene OR4X1 390113 genome.wustl.edu 36 11 48242346 48242346 + Missense_Mutation SNP C C T novel unknown TCGA-29-1695-01A-01W-0633-09 TCGA-29-1695-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bbf1daec-d2ee-4279-932a-024e03ac9273 03e23f9c-96bb-44a0-9f3f-db563f94848b 11 48242346 48242346 C T SNP OR4X1 NM_001004726 human genbank 54_36p +1 provisional missense c.358 p.R120C 1.000 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors AQP2 359 genome.wustl.edu 36 12 48630887 48630887 + Nonsense_Mutation SNP G G T novel unknown TCGA-29-1695-01A-01W-0633-09 TCGA-29-1695-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bbf1daec-d2ee-4279-932a-024e03ac9273 03e23f9c-96bb-44a0-9f3f-db563f94848b 12 48630887 48630887 G T SNP AQP2 NM_000486 human genbank 54_36p +1 reviewed nonsense c.7 p.E3* 1.000 superfamily_MIP,HMMPfam_MIP superfamily_MIP,HMMPfam_MIP,PatternScan_MIP - no_errors TFAP2D 83741 genome.wustl.edu 36 6 50848376 50848376 + Missense_Mutation SNP C C G novel unknown TCGA-29-1695-01A-01W-0633-09 TCGA-29-1695-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bbf1daec-d2ee-4279-932a-024e03ac9273 03e23f9c-96bb-44a0-9f3f-db563f94848b 6 50848376 50848376 C G SNP TFAP2D NM_172238 human genbank 54_36p +1 validated missense c.1199 p.T400R 1.000 HMMPfam_TF_AP-2 HMMPfam_TF_AP-2 - no_errors KRT86 3892 genome.wustl.edu 36 12 50981998 50981998 + Missense_Mutation SNP G G C novel unknown TCGA-29-1695-01A-01W-0633-09 TCGA-29-1695-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bbf1daec-d2ee-4279-932a-024e03ac9273 03e23f9c-96bb-44a0-9f3f-db563f94848b 12 50981998 50981998 G C SNP KRT86 NM_002284 human genbank 54_36p +1 reviewed missense c.31 p.A11P 0.862 NULL HMMPfam_Filament,PatternScan_IF - no_errors LOC390730 390730 genome.wustl.edu 36 16 51526524 51526524 + RNA SNP G G A novel unknown TCGA-29-1695-01A-01W-0633-09 TCGA-29-1695-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bbf1daec-d2ee-4279-932a-024e03ac9273 03e23f9c-96bb-44a0-9f3f-db563f94848b 16 51526524 51526524 G A SNP LOC390730 XR_016422 human genbank 54_36p +1 model rna NULL NULL 0.801 - - - pseudogene CSTF2T 23283 genome.wustl.edu 36 10 53128642 53128642 + Missense_Mutation SNP G G C novel unknown TCGA-29-1695-01A-01W-0633-09 TCGA-29-1695-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bbf1daec-d2ee-4279-932a-024e03ac9273 03e23f9c-96bb-44a0-9f3f-db563f94848b 10 53128642 53128642 G C SNP CSTF2T NM_015235 human genbank 54_36p -1 validated missense c.674 p.P225R 0.991 NULL superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1 - no_errors VEZF1 7716 genome.wustl.edu 36 17 53415252 53415252 + Missense_Mutation SNP A A G novel unknown TCGA-29-1695-01A-01W-0633-09 TCGA-29-1695-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bbf1daec-d2ee-4279-932a-024e03ac9273 03e23f9c-96bb-44a0-9f3f-db563f94848b 17 53415252 53415252 A G SNP VEZF1 NM_007146 human genbank 54_36p -1 validated missense c.535 p.C179R 1.000 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_errors PDGFRA 5156 genome.wustl.edu 36 4 54849808 54849808 + Silent SNP C C T novel unknown TCGA-29-1695-01A-01W-0633-09 TCGA-29-1695-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bbf1daec-d2ee-4279-932a-024e03ac9273 03e23f9c-96bb-44a0-9f3f-db563f94848b 4 54849808 54849808 C T SNP PDGFRA NM_006206 human genbank 54_36p +1 reviewed silent c.2760 p.H920 0.908 superfamily_Protein kinase-like (PK-like),HMMSmart_SM00220,HMMPfam_Pkinase_Tyr,HMMSmart_SM00219 superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig,HMMPfam_I-set,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00220,HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,PatternScan_PROTEIN_KINASE_ATP,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR - no_errors TSKS 60385 genome.wustl.edu 36 19 54957202 54957202 + Missense_Mutation SNP C C T novel unknown TCGA-29-1695-01A-01W-0633-09 TCGA-29-1695-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bbf1daec-d2ee-4279-932a-024e03ac9273 03e23f9c-96bb-44a0-9f3f-db563f94848b 19 54957202 54957202 C T SNP TSKS NM_021733 human genbank 54_36p -1 reviewed missense c.270 p.M90I 0.871 NULL NULL - no_errors CGNL1 84952 genome.wustl.edu 36 15 55521939 55521939 + Missense_Mutation SNP G G A novel unknown TCGA-29-1695-01A-01W-0633-09 TCGA-29-1695-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bbf1daec-d2ee-4279-932a-024e03ac9273 03e23f9c-96bb-44a0-9f3f-db563f94848b 15 55521939 55521939 G A SNP CGNL1 NM_032866 human genbank 54_36p +1 validated missense c.1774 p.A592T 1.000 NULL HMMPfam_Myosin_tail_1 - no_errors OR8H1 219469 genome.wustl.edu 36 11 55815071 55815071 + Missense_Mutation SNP G G A novel unknown TCGA-29-1695-01A-01W-0633-09 TCGA-29-1695-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bbf1daec-d2ee-4279-932a-024e03ac9273 03e23f9c-96bb-44a0-9f3f-db563f94848b 11 55815071 55815071 G A SNP OR8H1 NM_001005199 human genbank 54_36p -1 provisional missense c.44 p.T15M 0.444 superfamily_Family A G protein-coupled receptor-like superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors TBC1D3P2 0 genome.wustl.edu 36 17 57699339 57699339 + Silent SNP C C A novel unknown TCGA-29-1695-01A-01W-0633-09 TCGA-29-1695-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bbf1daec-d2ee-4279-932a-024e03ac9273 03e23f9c-96bb-44a0-9f3f-db563f94848b 17 57699339 57699339 C A SNP TBC1D3P2 ENST00000339120 human ensembl 54_36p -1 known silent c.864 p.V288 1.000 HMMPfam_TBC,HMMSmart_TBC superfamily_RabGAP_TBC,HMMPfam_TBC,HMMSmart_TBC - no_errors LOC390735 390735 genome.wustl.edu 36 16 61942419 61942419 + Missense_Mutation SNP A A C novel unknown TCGA-29-1695-01A-01W-0633-09 TCGA-29-1695-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bbf1daec-d2ee-4279-932a-024e03ac9273 03e23f9c-96bb-44a0-9f3f-db563f94848b 16 61942419 61942419 A C SNP LOC390735 XM_001129659 human genbank 54_36p -1 model missense c.136 p.Y46D 1.000 superfamily_Ribosomal protein S8,HMMPfam_Ribosomal_S8 superfamily_Ribosomal protein S8,HMMPfam_Ribosomal_S8 - pseudogene RHOBTB1 9886 genome.wustl.edu 36 10 62304795 62304795 + Missense_Mutation SNP C C T novel unknown TCGA-29-1695-01A-01W-0633-09 TCGA-29-1695-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bbf1daec-d2ee-4279-932a-024e03ac9273 03e23f9c-96bb-44a0-9f3f-db563f94848b 10 62304795 62304795 C T SNP RHOBTB1 NM_014836 human genbank 54_36p -1 reviewed missense c.1738 p.V580I 0.949 superfamily_BTB/POZ_fold,HMMPfam_BTB,HMMSmart_BTB superfamily_SSF52540,HMMSmart_RHO,HMMPfam_Ras,superfamily_BTB/POZ_fold,HMMPfam_BTB,HMMSmart_BTB - no_errors FTSJD1 55783 genome.wustl.edu 36 16 69877317 69877317 + Missense_Mutation SNP T T G novel unknown TCGA-29-1695-01A-01W-0633-09 TCGA-29-1695-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bbf1daec-d2ee-4279-932a-024e03ac9273 03e23f9c-96bb-44a0-9f3f-db563f94848b 16 69877317 69877317 T G SNP FTSJD1 NM_001099642 human genbank 54_36p -1 validated missense c.8 p.K3T 0.996 NULL superfamily_S-adenosyl-L-methionine-dependent methyltransferases,HMMPfam_FtsJ - no_errors NPFFR2 10886 genome.wustl.edu 36 4 73213313 73213313 + Silent SNP C C A novel unknown TCGA-29-1695-01A-01W-0633-09 TCGA-29-1695-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bbf1daec-d2ee-4279-932a-024e03ac9273 03e23f9c-96bb-44a0-9f3f-db563f94848b 4 73213313 73213313 C A SNP NPFFR2 NM_004885 human genbank 54_36p +1 reviewed silent c.447 p.I149 0.994 superfamily_Family A G protein-coupled receptor-like superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors ALMS1 7840 genome.wustl.edu 36 2 73533955 73533955 + Missense_Mutation SNP C C G novel unknown TCGA-29-1695-01A-01W-0633-09 TCGA-29-1695-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bbf1daec-d2ee-4279-932a-024e03ac9273 03e23f9c-96bb-44a0-9f3f-db563f94848b 2 73533955 73533955 C G SNP ALMS1 NM_015120 human genbank 54_36p +1 reviewed missense c.6790 p.L2264V 0.939 NULL NULL - no_errors LOC100132585 0 genome.wustl.edu 36 7 73961100 73961100 + Silent SNP G G T novel unknown TCGA-29-1695-01A-01W-0633-09 TCGA-29-1695-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bbf1daec-d2ee-4279-932a-024e03ac9273 03e23f9c-96bb-44a0-9f3f-db563f94848b 7 73961100 73961100 G T SNP LOC100132585 XM_001722111 human genbank 54_36p -1 model silent c.531 p.A177 0.358 NULL NULL - no_errors ADAMTS18 170692 genome.wustl.edu 36 16 75912520 75912520 + Nonsense_Mutation SNP G G T novel unknown TCGA-29-1695-01A-01W-0633-09 TCGA-29-1695-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bbf1daec-d2ee-4279-932a-024e03ac9273 03e23f9c-96bb-44a0-9f3f-db563f94848b 16 75912520 75912520 G T SNP ADAMTS18 NM_199355 human genbank 54_36p -1 reviewed nonsense c.2244 p.C748* 1.000 NULL "HMMPfam_Pep_M12B_propep,superfamily_Metalloproteases (""zincins"") catalytic domain,HMMPfam_Reprolysin,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,HMMPfam_ADAM_spacer1,HMMPfam_PLAC" - no_errors ZMIZ1 57178 genome.wustl.edu 36 10 80723253 80723253 + Missense_Mutation SNP C C T novel unknown TCGA-29-1695-01A-01W-0633-09 TCGA-29-1695-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bbf1daec-d2ee-4279-932a-024e03ac9273 03e23f9c-96bb-44a0-9f3f-db563f94848b 10 80723253 80723253 C T SNP ZMIZ1 NM_020338 human genbank 54_36p +1 validated missense c.1067 p.T356M 1.000 NULL superfamily_RING/U-box,HMMPfam_zf-MIZ - no_errors ATP2C2 9914 genome.wustl.edu 36 16 83051882 83051882 + Missense_Mutation SNP G G A novel unknown TCGA-29-1695-01A-01W-0633-09 TCGA-29-1695-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bbf1daec-d2ee-4279-932a-024e03ac9273 03e23f9c-96bb-44a0-9f3f-db563f94848b 16 83051882 83051882 G A SNP ATP2C2 NM_014861 human genbank 54_36p +1 validated missense c.2455 p.G819R 1.000 superfamily_Calcium ATPase transmembrane domain M,HMMPfam_Cation_ATPase_C superfamily_Calcium ATPase transmembrane domain M,HMMPfam_Cation_ATPase_N,HMMPfam_E1-E2_ATPase,superfamily_Calcium ATPase transduction domain A,superfamily_HAD-like,HMMPfam_Hydrolase,PatternScan_ATPASE_E1_E2,superfamily_Metal cation-transporting ATPase ATP-binding domain N,HMMPfam_Cation_ATPase_C - no_errors HNRNPD 3184 genome.wustl.edu 36 4 83497070 83497070 + Silent SNP A A G novel unknown TCGA-29-1695-01A-01W-0633-09 TCGA-29-1695-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bbf1daec-d2ee-4279-932a-024e03ac9273 03e23f9c-96bb-44a0-9f3f-db563f94848b 4 83497070 83497070 A G SNP HNRNPD NM_031370 human genbank 54_36p -1 reviewed silent c.756 p.C252 1.000 superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1 HMMPfam_CBFNT,superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1 - no_errors ATP2B1 490 genome.wustl.edu 36 12 88508975 88508975 + Missense_Mutation SNP T T C novel unknown TCGA-29-1695-01A-01W-0633-09 TCGA-29-1695-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bbf1daec-d2ee-4279-932a-024e03ac9273 03e23f9c-96bb-44a0-9f3f-db563f94848b 12 88508975 88508975 T C SNP ATP2B1 NM_001682 human genbank 54_36p -1 reviewed missense c.3580 p.I1194V 1.000 NULL HMMPfam_Cation_ATPase_N,superfamily_SSF81665,HMMPfam_E1-E2_ATPase,superfamily_SSF81653,superfamily_SSF56784,HMMPfam_Hydrolase,PatternScan_ATPASE_E1_E2,superfamily_SSF81660,HMMPfam_Cation_ATPase_C - no_errors CRTC3 64784 genome.wustl.edu 36 15 88973658 88973658 + Missense_Mutation SNP C C T novel unknown TCGA-29-1695-01A-01W-0633-09 TCGA-29-1695-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bbf1daec-d2ee-4279-932a-024e03ac9273 03e23f9c-96bb-44a0-9f3f-db563f94848b 15 88973658 88973658 C T SNP CRTC3 NM_022769 human genbank 54_36p +1 validated missense c.1156 p.R386W 0.251 NULL NULL - no_errors LONRF2 164832 genome.wustl.edu 36 2 100282737 100282737 + Nonsense_Mutation SNP C C A novel unknown TCGA-29-1695-01A-01W-0633-09 TCGA-29-1695-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bbf1daec-d2ee-4279-932a-024e03ac9273 03e23f9c-96bb-44a0-9f3f-db563f94848b 2 100282737 100282737 C A SNP LONRF2 NM_198461 human genbank 54_36p -1 validated nonsense c.1141 p.E381* 0.961 superfamily_TPR-like superfamily_TPR-like,superfamily_RING/U-box,HMMSmart_SM00184,HMMSmart_SM00028,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1,HMMPfam_LON,HMMSmart_SM00464 - no_errors SH3RF3 344558 genome.wustl.edu 36 2 109330728 109330728 + Missense_Mutation SNP A A G novel unknown TCGA-29-1695-01A-01W-0633-09 TCGA-29-1695-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bbf1daec-d2ee-4279-932a-024e03ac9273 03e23f9c-96bb-44a0-9f3f-db563f94848b 2 109330728 109330728 A G SNP SH3RF3 NM_001099289 human genbank 54_36p +1 provisional missense c.740 p.Y247C 0.459 superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326 superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1,superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326 - no_stop_codon SYPL2 284612 genome.wustl.edu 36 1 109819740 109819740 + Silent SNP C C T novel unknown TCGA-29-1695-01A-01W-0633-09 TCGA-29-1695-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bbf1daec-d2ee-4279-932a-024e03ac9273 03e23f9c-96bb-44a0-9f3f-db563f94848b 1 109819740 109819740 C T SNP SYPL2 NM_001040709 human genbank 54_36p +1 validated silent c.144 p.F48 1.000 HMMPfam_MARVEL HMMPfam_MARVEL - no_errors SYPL2 284612 genome.wustl.edu 36 1 109821011 109821011 + Silent SNP C C T novel unknown TCGA-29-1695-01A-01W-0633-09 TCGA-29-1695-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bbf1daec-d2ee-4279-932a-024e03ac9273 03e23f9c-96bb-44a0-9f3f-db563f94848b 1 109821011 109821011 C T SNP SYPL2 NM_001040709 human genbank 54_36p +1 validated silent c.345 p.A115 0.205 HMMPfam_MARVEL HMMPfam_MARVEL - no_errors ALPK1 80216 genome.wustl.edu 36 4 113571067 113571067 + Silent SNP G G A novel unknown TCGA-29-1695-01A-01W-0633-09 TCGA-29-1695-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bbf1daec-d2ee-4279-932a-024e03ac9273 03e23f9c-96bb-44a0-9f3f-db563f94848b 4 113571067 113571067 G A SNP ALPK1 NM_001102406 human genbank 54_36p +1 validated silent c.915 p.T305 0.881 NULL superfamily_Protein kinase-like (PK-like),HMMSmart_SM00811,HMMPfam_Alpha_kinase - no_errors POT1 25913 genome.wustl.edu 36 7 124319664 124319664 + Missense_Mutation SNP C C T novel unknown TCGA-29-1695-01A-01W-0633-09 TCGA-29-1695-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bbf1daec-d2ee-4279-932a-024e03ac9273 03e23f9c-96bb-44a0-9f3f-db563f94848b 7 124319664 124319664 C T SNP POT1 NM_015450 human genbank 54_36p -1 reviewed missense c.16 p.A6T 0.006 NULL superfamily_Nucleic acid-binding proteins,HMMPfam_Telo_bind - no_errors GRM8 2918 genome.wustl.edu 36 7 125960316 125960316 + Missense_Mutation SNP T T G novel unknown TCGA-29-1695-01A-01W-0633-09 TCGA-29-1695-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bbf1daec-d2ee-4279-932a-024e03ac9273 03e23f9c-96bb-44a0-9f3f-db563f94848b 7 125960316 125960316 T G SNP GRM8 NM_000845 human genbank 54_36p -1 reviewed missense c.2356 p.T786P 1.000 HMMPfam_7tm_3,PatternScan_G_PROTEIN_RECEP_F3_3 superfamily_Periplasmic binding protein-like I,HMMPfam_ANF_receptor,PatternScan_G_PROTEIN_RECEP_F3_1,HMMPfam_NCD3G,PatternScan_G_PROTEIN_RECEP_F3_2,HMMPfam_7tm_3,PatternScan_G_PROTEIN_RECEP_F3_3 - no_errors JAKMIP3 282973 genome.wustl.edu 36 10 133780909 133780909 + Silent SNP C C A novel unknown TCGA-29-1695-01A-01W-0633-09 TCGA-29-1695-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bbf1daec-d2ee-4279-932a-024e03ac9273 03e23f9c-96bb-44a0-9f3f-db563f94848b 10 133780909 133780909 C A SNP JAKMIP3 NM_001105521 human genbank 54_36p +1 provisional silent c.474 p.I158 0.868 NULL NULL - no_errors TG 7038 genome.wustl.edu 36 8 134093356 134093356 + Silent SNP C C T novel unknown TCGA-29-1695-01A-01W-0633-09 TCGA-29-1695-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bbf1daec-d2ee-4279-932a-024e03ac9273 03e23f9c-96bb-44a0-9f3f-db563f94848b 8 134093356 134093356 C T SNP TG NM_003235 human genbank 54_36p +1 validated silent c.6291 p.A2097 0.181 NULL superfamily_Thyroglobulin type-1 domain,HMMPfam_Thyroglobulin_1,PatternScan_THYROGLOBULIN_1_1,HMMSmart_SM00211,superfamily_TNF receptor-like,HMMPfam_GCC2_GCC3,HMMPfam_COesterase,superfamily_alpha/beta-Hydrolases,PatternScan_CARBOXYLESTERASE_B_2 - no_errors PKD2L2 27039 genome.wustl.edu 36 5 137254094 137254094 + Nonsense_Mutation SNP C C A novel unknown TCGA-29-1695-01A-01W-0633-09 TCGA-29-1695-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bbf1daec-d2ee-4279-932a-024e03ac9273 03e23f9c-96bb-44a0-9f3f-db563f94848b 5 137254094 137254094 C A SNP PKD2L2 NM_014386 human genbank 54_36p +1 validated nonsense c.57 p.Y19* 0.018 NULL HMMPfam_PKD_channel - no_errors NOBOX 135935 genome.wustl.edu 36 7 143727871 143727871 + Missense_Mutation SNP G G A novel unknown TCGA-29-1695-01A-01W-0633-09 TCGA-29-1695-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bbf1daec-d2ee-4279-932a-024e03ac9273 03e23f9c-96bb-44a0-9f3f-db563f94848b 7 143727871 143727871 G A SNP NOBOX NM_001080413 human genbank 54_36p -1 provisional missense c.1066 p.R356W 0.688 superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox - no_errors CYP11B2 1585 genome.wustl.edu 36 8 143996037 143996037 + Silent SNP C C T novel unknown TCGA-29-1695-01A-01W-0633-09 TCGA-29-1695-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bbf1daec-d2ee-4279-932a-024e03ac9273 03e23f9c-96bb-44a0-9f3f-db563f94848b 8 143996037 143996037 C T SNP CYP11B2 NM_000498 human genbank 54_36p -1 reviewed silent c.222 p.E74 0.940 HMMPfam_p450,superfamily_Cytochrome P450 HMMPfam_p450,superfamily_Cytochrome P450,PatternScan_CYTOCHROME_P450 - no_errors ABCF2 10061 genome.wustl.edu 36 7 150542079 150542079 + Silent SNP G G A novel unknown TCGA-29-1695-01A-01W-0633-09 TCGA-29-1695-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bbf1daec-d2ee-4279-932a-024e03ac9273 03e23f9c-96bb-44a0-9f3f-db563f94848b 7 150542079 150542079 G A SNP ABCF2 NM_005692 human genbank 54_36p -1 reviewed silent c.1866 p.N622 0.996 NULL superfamily_SSF52540,HMMSmart_AAA,HMMPfam_ABC_tran,PatternScan_ABC_TRANSPORTER_1 - no_errors LRBA 987 genome.wustl.edu 36 4 151728662 151728662 + Missense_Mutation SNP T T G novel unknown TCGA-29-1695-01A-01W-0633-09 TCGA-29-1695-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bbf1daec-d2ee-4279-932a-024e03ac9273 03e23f9c-96bb-44a0-9f3f-db563f94848b 4 151728662 151728662 T G SNP LRBA NM_006726 human genbank 54_36p -1 validated missense c.6351 p.K2117N 1.000 superfamily_PH domain-like superfamily_ARM repeat,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_DUF1088,superfamily_PH domain-like,superfamily_BEACH domain,HMMPfam_Beach,superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40 - no_errors uc003ezv.1 0 genome.wustl.edu 36 3 155323156 155323156 + Missense_Mutation SNP G G A novel unknown TCGA-29-1695-01A-01W-0633-09 TCGA-29-1695-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bbf1daec-d2ee-4279-932a-024e03ac9273 03e23f9c-96bb-44a0-9f3f-db563f94848b 3 155323156 155323156 G A SNP uc003ezv.1 ENST00000356448 human ensembl 54_36p +1 known missense c.685 p.E229K 0.033 NULL superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,superfamily_SH3-domain,HMMSmart_SM00326,HMMPfam_SH3_1 - no_errors uc003ezv.1 0 genome.wustl.edu 36 3 155440867 155440867 + Silent SNP C C T novel unknown TCGA-29-1695-01A-01W-0633-09 TCGA-29-1695-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bbf1daec-d2ee-4279-932a-024e03ac9273 03e23f9c-96bb-44a0-9f3f-db563f94848b 3 155440867 155440867 C T SNP uc003ezv.1 ENST00000356448 human ensembl 54_36p +1 known silent c.2109 p.V703 1.000 HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain),HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain,HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like - no_errors DDR2 4921 genome.wustl.edu 36 1 161012065 161012065 + Splice_Site SNP G G C novel unknown TCGA-29-1695-01A-01W-0633-09 TCGA-29-1695-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bbf1daec-d2ee-4279-932a-024e03ac9273 03e23f9c-96bb-44a0-9f3f-db563f94848b 1 161012065 161012065 G C SNP DDR2 NM_001014796 human genbank 54_36p +1 reviewed splice_site c.1857-1 e13-1 1.000 - - - no_errors KCNH7 90134 genome.wustl.edu 36 2 162944608 162944608 + Splice_Site SNP C C T novel unknown TCGA-29-1695-01A-01W-0633-09 TCGA-29-1695-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bbf1daec-d2ee-4279-932a-024e03ac9273 03e23f9c-96bb-44a0-9f3f-db563f94848b 2 162944608 162944608 C T SNP KCNH7 NM_033272 human genbank 54_36p -1 reviewed splice_site c.3131+1 e14+1 1.000 - - - no_errors LMX1A 4009 genome.wustl.edu 36 1 163449582 163449582 + Missense_Mutation SNP G G A novel unknown TCGA-29-1695-01A-01W-0633-09 TCGA-29-1695-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bbf1daec-d2ee-4279-932a-024e03ac9273 03e23f9c-96bb-44a0-9f3f-db563f94848b 1 163449582 163449582 G A SNP LMX1A NM_177398 human genbank 54_36p -1 provisional missense c.589 p.R197C 1.000 superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox superfamily_Glucocorticoid receptor-like (DNA-binding domain),HMMSmart_SM00132,PatternScan_LIM_DOMAIN_1,HMMPfam_LIM,superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1 - no_errors TRIM60 166655 genome.wustl.edu 36 4 166181867 166181867 + Missense_Mutation SNP C C T novel unknown TCGA-29-1695-01A-01W-0633-09 TCGA-29-1695-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bbf1daec-d2ee-4279-932a-024e03ac9273 03e23f9c-96bb-44a0-9f3f-db563f94848b 4 166181867 166181867 C T SNP TRIM60 NM_152620 human genbank 54_36p +1 reviewed missense c.1193 p.A398V 0.000 HMMPfam_SPRY superfamily_SSF57850,HMMSmart_RING,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1,HMMPfam_zf-B_box,HMMSmart_BBOX,HMMSmart_PRY,HMMPfam_SPRY - no_errors BAT2D1 23215 genome.wustl.edu 36 1 169827385 169827385 + Missense_Mutation SNP C C T novel unknown TCGA-29-1695-01A-01W-0633-09 TCGA-29-1695-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bbf1daec-d2ee-4279-932a-024e03ac9273 03e23f9c-96bb-44a0-9f3f-db563f94848b 1 169827385 169827385 C T SNP BAT2D1 ENST00000392080 human ensembl 54_36p +1 known missense c.8233 p.R2745W 1.000 NULL HMMPfam_BAT2_N - no_errors GORASP2 26003 genome.wustl.edu 36 2 171530624 171530624 + Missense_Mutation SNP C C G novel unknown TCGA-29-1695-01A-01W-0633-09 TCGA-29-1695-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bbf1daec-d2ee-4279-932a-024e03ac9273 03e23f9c-96bb-44a0-9f3f-db563f94848b 2 171530624 171530624 C G SNP GORASP2 NM_015530 human genbank 54_36p +1 reviewed missense c.1097 p.P366R 1.000 HMMPfam_GRASP55_65 superfamily_PDZ domain-like,HMMPfam_GRASP55_65 - no_errors KLHL6 89857 genome.wustl.edu 36 3 184755902 184755902 + Silent SNP C C T novel unknown TCGA-29-1695-01A-01W-0633-09 TCGA-29-1695-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bbf1daec-d2ee-4279-932a-024e03ac9273 03e23f9c-96bb-44a0-9f3f-db563f94848b 3 184755902 184755902 C T SNP KLHL6 NM_130446 human genbank 54_36p -1 validated silent c.234 p.V78 1.000 superfamily_BTB/POZ_fold,HMMPfam_BTB,HMMSmart_BTB superfamily_BTB/POZ_fold,HMMPfam_BTB,HMMSmart_BTB,HMMPfam_BACK,superfamily_Gal_oxid_central,HMMPfam_Kelch_1,HMMSmart_Kelch - no_errors MFSD6 54842 genome.wustl.edu 36 2 191010239 191010239 + Missense_Mutation SNP G G C novel unknown TCGA-29-1695-01A-01W-0633-09 TCGA-29-1695-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bbf1daec-d2ee-4279-932a-024e03ac9273 03e23f9c-96bb-44a0-9f3f-db563f94848b 2 191010239 191010239 G C SNP MFSD6 NM_017694 human genbank 54_36p +1 validated missense c.1239 p.R413S 0.028 superfamily_MFS_gen_substrate_transporter superfamily_MFS_gen_substrate_transporter,HMMPfam_MFS_1 - no_errors MUC20 200958 genome.wustl.edu 36 3 196939092 196939092 + Missense_Mutation SNP G G T novel unknown TCGA-29-1695-01A-01W-0633-09 TCGA-29-1695-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bbf1daec-d2ee-4279-932a-024e03ac9273 03e23f9c-96bb-44a0-9f3f-db563f94848b 3 196939092 196939092 G T SNP MUC20 NM_152673 human genbank 54_36p +1 reviewed missense c.1434 p.R478S 0.000 NULL NULL - no_errors LOC100130249 0 genome.wustl.edu 36 1 232961753 232961753 + Missense_Mutation SNP T C C novel unknown TCGA-29-1695-01A-01W-0633-09 TCGA-29-1695-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bbf1daec-d2ee-4279-932a-024e03ac9273 03e23f9c-96bb-44a0-9f3f-db563f94848b 1 232961753 232961753 T C SNP LOC100130249 XM_001722882 human genbank 54_36p -1 model missense c.470 p.Y157C 0.001 NULL NULL - no_errors NLRP3 114548 genome.wustl.edu 36 1 245654212 245654212 + Missense_Mutation SNP G G A novel unknown TCGA-29-1695-01A-01W-0633-09 TCGA-29-1695-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bbf1daec-d2ee-4279-932a-024e03ac9273 03e23f9c-96bb-44a0-9f3f-db563f94848b 1 245654212 245654212 G A SNP NLRP3 NM_001079821 human genbank 54_36p +1 reviewed missense c.844 p.D282N 0.024 HMMPfam_NACHT superfamily_DEATH_like,HMMPfam_PAAD_DAPIN,HMMPfam_NACHT,superfamily_SSF52047,HMMSmart_LRR_RI,HMMPfam_LRR_1 - no_errors FASTKD3 79072 genome.wustl.edu 36 5 7920620 7920623 + Frame_Shift_Del DEL GAGG GAGG - novel unknown TCGA-29-1695-01A-01W-0633-09 TCGA-29-1695-10A-01W-0633-09 GAGG GAGG Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bbf1daec-d2ee-4279-932a-024e03ac9273 03e23f9c-96bb-44a0-9f3f-db563f94848b 5 7920620 7920623 GAGG - DEL FASTKD3 NM_024091 human genbank 54_36p -1 validated frame_shift_del c.577_574 p.P192fs 0.770:0.781:0.982:0.982 NULL HMMPfam_FAST_1,HMMPfam_FAST_2,HMMPfam_RAP (deletion:cds_exon[7919759,7921196]) no_errors EHF 26298 genome.wustl.edu 36 11 34624790 34624798 + In_Frame_Del DEL AGCATCTGA AGCATCTGA - novel unknown TCGA-29-1695-01A-01W-0633-09 TCGA-29-1695-10A-01W-0633-09 AGCATCTGA AGCATCTGA Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bbf1daec-d2ee-4279-932a-024e03ac9273 03e23f9c-96bb-44a0-9f3f-db563f94848b 11 34624790 34624798 AGCATCTGA - DEL EHF NM_012153 human genbank 54_36p +1 reviewed in_frame_del c.326_334 p.HLK110in_frame_del 1.000:0.999:1.000:1.000:1.000:1.000:1.000:0.991:1.000 superfamily_SAM/Pointed domain,HMMPfam_SAM_PNT,HMMSmart_SM00251 "superfamily_SAM/Pointed domain,HMMPfam_SAM_PNT,HMMSmart_SM00251,superfamily_""Winged helix"" DNA-binding domain,HMMPfam_Ets,HMMSmart_SM00413" (deletion:cds_exon[34624562,34624807]) no_errors TMEM213 155006 genome.wustl.edu 36 7 138136676 138136676 + Frame_Shift_Del DEL G G - novel unknown TCGA-29-1695-01A-01W-0633-09 TCGA-29-1695-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bbf1daec-d2ee-4279-932a-024e03ac9273 03e23f9c-96bb-44a0-9f3f-db563f94848b 7 138136676 138136676 G - DEL TMEM213 NM_001085429 human genbank 54_36p +1 validated frame_shift_del c.147 p.Q49fs 0.993 NULL NULL (deletion:cds_exon[138136612,138136683]) no_errors TM4SF20 79853 genome.wustl.edu 36 2 227943898 227943899 + Frame_Shift_Del DEL CT CT - novel unknown TCGA-29-1695-01A-01W-0633-09 TCGA-29-1695-10A-01W-0633-09 CT CT Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx bbf1daec-d2ee-4279-932a-024e03ac9273 03e23f9c-96bb-44a0-9f3f-db563f94848b 2 227943898 227943899 CT - DEL TM4SF20 NM_024795 human genbank 54_36p -1 validated frame_shift_del c.226_225 p.R75fs 0.182:0.379 HMMPfam_L6_membrane HMMPfam_L6_membrane (deletion:cds_exon[227943875,227943940]) no_errors