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 ENSG00000215615 0 genome.wustl.edu 36 NT_113889 40716 40716 + Missense_Mutation SNP C C T novel unknown TCGA-13-2066-01A-01D-1526-09 TCGA-13-2066-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ae34e8ba-0ca3-4c68-9379-28135af0646f 0596464f-371f-46ef-a427-7b1f1a1856fa NT_113889 40716 40716 C T SNP ENSG00000215615 ENST00000400681 human ensembl 54_36p -1 known missense c.214 p.V72M NULL HMMPfam_Tektin HMMPfam_Tektin - no_stop_codon SCRT2 85508 genome.wustl.edu 36 20 604181 604181 + Missense_Mutation SNP G G A novel unknown TCGA-13-2066-01A-01D-1526-09 TCGA-13-2066-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ae34e8ba-0ca3-4c68-9379-28135af0646f 0596464f-371f-46ef-a427-7b1f1a1856fa 20 604181 604181 G A SNP SCRT2 NM_033129 human genbank 54_36p -1 validated missense c.65 p.A22V 1.000 NULL HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_SSF57667 - no_errors LOC100133432 0 genome.wustl.edu 36 11 666486 666486 + Missense_Mutation SNP C T T novel unknown TCGA-13-2066-01A-01D-1526-09 TCGA-13-2066-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ae34e8ba-0ca3-4c68-9379-28135af0646f 0596464f-371f-46ef-a427-7b1f1a1856fa 11 666486 666486 C T SNP LOC100133432 XM_001714734 human genbank 54_36p -1 model missense c.1069 p.E357K 0.052 NULL NULL - no_start_codon:pseudogene:no_stop_codon IL3RA 3563 genome.wustl.edu 36 X 1457644 1457644 + Missense_Mutation SNP G G C novel unknown TCGA-13-2066-01A-01D-1526-09 TCGA-13-2066-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ae34e8ba-0ca3-4c68-9379-28135af0646f 0596464f-371f-46ef-a427-7b1f1a1856fa X 1457644 1457644 G C SNP IL3RA NM_002183 human genbank 54_36p +1 reviewed missense c.967 p.V323L 0.001 NULL superfamily_FN_III-like,HMMPfam_Haemat_rec_S_F2,PatternScan_HEMATOPO_REC_S_F2 - no_errors ASMT 438 genome.wustl.edu 36 X 1715404 1715404 + Silent SNP C C T novel unknown TCGA-13-2066-01A-01D-1526-09 TCGA-13-2066-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ae34e8ba-0ca3-4c68-9379-28135af0646f 0596464f-371f-46ef-a427-7b1f1a1856fa X 1715404 1715404 C T SNP ASMT NM_004043 human genbank 54_36p +1 validated silent c.861 p.D287 0.994 HMMPfam_Methyltransf_2,superfamily_SSF53335 superfamily_SSF46785,HMMPfam_Methyltransf_2,superfamily_SSF53335 - no_errors ABCA3 21 genome.wustl.edu 36 16 2288449 2288449 + Missense_Mutation SNP G G A novel unknown TCGA-13-2066-01A-01D-1526-09 TCGA-13-2066-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ae34e8ba-0ca3-4c68-9379-28135af0646f 0596464f-371f-46ef-a427-7b1f1a1856fa 16 2288449 2288449 G A SNP ABCA3 NM_001089 human genbank 54_36p -1 reviewed missense c.1835 p.P612L 0.999 superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_ABC_tran superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_ABC_tran,PatternScan_ABC_TRANSPORTER_1 - no_errors STS 412 genome.wustl.edu 36 X 7278186 7278186 + Missense_Mutation SNP G G A novel unknown TCGA-13-2066-01A-01D-1526-09 TCGA-13-2066-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ae34e8ba-0ca3-4c68-9379-28135af0646f 0596464f-371f-46ef-a427-7b1f1a1856fa X 7278186 7278186 G A SNP STS NM_000351 human genbank 54_36p +1 reviewed missense c.1636 p.D546N 0.957 superfamily_Alkaline_phosphatase_core superfamily_Alkaline_phosphatase_core,HMMPfam_Sulfatase,PatternScan_SULFATASE_1,PatternScan_SULFATASE_2 - no_errors TP53 7157 genome.wustl.edu 36 17 7518272 7518272 + Missense_Mutation SNP C T T novel unknown TCGA-13-2066-01A-01D-1526-09 TCGA-13-2066-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ae34e8ba-0ca3-4c68-9379-28135af0646f 0596464f-371f-46ef-a427-7b1f1a1856fa 17 7518272 7518272 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.734 p.G245D 1.000 HMMPfam_P53,superfamily_p53-like transcription factors,PatternScan_P53 HMMPfam_P53_TAD,HMMPfam_P53,superfamily_p53-like transcription factors,PatternScan_P53,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain - no_errors SLC35B3 51000 genome.wustl.edu 36 6 8366050 8366050 + Nonsense_Mutation SNP A A C novel unknown TCGA-13-2066-01A-01D-1526-09 TCGA-13-2066-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ae34e8ba-0ca3-4c68-9379-28135af0646f 0596464f-371f-46ef-a427-7b1f1a1856fa 6 8366050 8366050 A C SNP SLC35B3 NM_015948 human genbank 54_36p -1 validated nonsense c.585 p.Y195* 0.918 HMMPfam_UAA,superfamily_Multidrug resistance efflux transporter EmrE HMMPfam_UAA,superfamily_Multidrug resistance efflux transporter EmrE - no_errors ECHDC3 79746 genome.wustl.edu 36 10 11824639 11824639 + Missense_Mutation SNP C T T rs11558855 unknown TCGA-13-2066-01A-01D-1526-09 TCGA-13-2066-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ae34e8ba-0ca3-4c68-9379-28135af0646f 0596464f-371f-46ef-a427-7b1f1a1856fa 10 11824639 11824639 C T SNP ECHDC3 NM_024693 human genbank 54_36p +1 validated missense c.58 p.R20C 0.006 NULL superfamily_ClpP/crotonase,HMMPfam_ECH - no_errors LOC729356 729356 genome.wustl.edu 36 1 12910536 12910536 + RNA SNP C C T novel unknown TCGA-13-2066-01A-01D-1526-09 TCGA-13-2066-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ae34e8ba-0ca3-4c68-9379-28135af0646f 0596464f-371f-46ef-a427-7b1f1a1856fa 1 12910536 12910536 C T SNP LOC729356 XR_015521 human genbank 54_36p +1 model rna NULL NULL 0.000 - - - pseudogene NUP210 23225 genome.wustl.edu 36 3 13348834 13348834 + Missense_Mutation SNP T T C novel unknown TCGA-13-2066-01A-01D-1526-09 TCGA-13-2066-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ae34e8ba-0ca3-4c68-9379-28135af0646f 0596464f-371f-46ef-a427-7b1f1a1856fa 3 13348834 13348834 T C SNP NUP210 NM_024923 human genbank 54_36p -1 reviewed missense c.3894 p.I1298M 0.953 NULL superfamily_Invasin/intimin cell-adhesion fragments,HMMPfam_Big_2,HMMSmart_SM00635 - no_errors NWD1 284434 genome.wustl.edu 36 19 16779641 16779641 + Missense_Mutation SNP C C G novel unknown TCGA-13-2066-01A-01D-1526-09 TCGA-13-2066-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ae34e8ba-0ca3-4c68-9379-28135af0646f 0596464f-371f-46ef-a427-7b1f1a1856fa 19 16779641 16779641 C G SNP NWD1 NM_001007525 human genbank 54_36p +1 validated missense c.3576 p.I1192M 0.999 superfamily_WD40 repeat-like superfamily_P-loop containing nucleoside triphosphate hydrolases,superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40,PatternScan_WD_REPEATS_1 - no_errors LOC440225 440225 genome.wustl.edu 36 15 19402770 19402770 + RNA SNP C C T novel unknown TCGA-13-2066-01A-01D-1526-09 TCGA-13-2066-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ae34e8ba-0ca3-4c68-9379-28135af0646f 0596464f-371f-46ef-a427-7b1f1a1856fa 15 19402770 19402770 C T SNP LOC440225 XR_042334 human genbank 54_36p -1 model rna NULL NULL 1.000 - - - pseudogene FANCF 2188 genome.wustl.edu 36 11 22603376 22603376 + Missense_Mutation SNP G G A novel unknown TCGA-13-2066-01A-01D-1526-09 TCGA-13-2066-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ae34e8ba-0ca3-4c68-9379-28135af0646f 0596464f-371f-46ef-a427-7b1f1a1856fa 11 22603376 22603376 G A SNP FANCF NM_022725 human genbank 54_36p -1 reviewed missense c.557 p.A186V 0.000 NULL NULL - no_errors ATP10A 57194 genome.wustl.edu 36 15 23523403 23523403 + Missense_Mutation SNP C C T novel unknown TCGA-13-2066-01A-01D-1526-09 TCGA-13-2066-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ae34e8ba-0ca3-4c68-9379-28135af0646f 0596464f-371f-46ef-a427-7b1f1a1856fa 15 23523403 23523403 C T SNP ATP10A NM_024490 human genbank 54_36p -1 reviewed missense c.844 p.A282T 1.000 HMMPfam_E1-E2_ATPase,superfamily_SSF81653 HMMPfam_E1-E2_ATPase,superfamily_SSF81653,superfamily_SSF56784,PatternScan_ATPASE_E1_E2,superfamily_SSF81660,HMMPfam_Hydrolase_3 - no_errors C12orf35 55196 genome.wustl.edu 36 12 32028098 32028098 + Missense_Mutation SNP C C T novel unknown TCGA-13-2066-01A-01D-1526-09 TCGA-13-2066-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ae34e8ba-0ca3-4c68-9379-28135af0646f 0596464f-371f-46ef-a427-7b1f1a1856fa 12 32028098 32028098 C T SNP C12orf35 NM_018169 human genbank 54_36p +1 validated missense c.2942 p.S981L 0.000 NULL NULL - no_errors HERC2P4 440362 genome.wustl.edu 36 16 32071026 32071026 + RNA SNP G G A novel unknown TCGA-13-2066-01A-01D-1526-09 TCGA-13-2066-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ae34e8ba-0ca3-4c68-9379-28135af0646f 0596464f-371f-46ef-a427-7b1f1a1856fa 16 32071026 32071026 G A SNP HERC2P4 NR_002827 human genbank 54_36p -1 provisional rna NULL NULL 0.960 - - - pseudogene HMGXB4 10042 genome.wustl.edu 36 22 33990878 33990878 + Missense_Mutation SNP C C G novel unknown TCGA-13-2066-01A-01D-1526-09 TCGA-13-2066-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ae34e8ba-0ca3-4c68-9379-28135af0646f 0596464f-371f-46ef-a427-7b1f1a1856fa 22 33990878 33990878 C G SNP HMGXB4 NM_001003681 human genbank 54_36p +1 validated missense c.497 p.S166C 0.462 NULL superfamily_HMG-box,HMMSmart_HMG,HMMPfam_HMG_box - no_errors MYH9 4627 genome.wustl.edu 36 22 35028569 35028569 + Silent SNP G G A novel unknown TCGA-13-2066-01A-01D-1526-09 TCGA-13-2066-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ae34e8ba-0ca3-4c68-9379-28135af0646f 0596464f-371f-46ef-a427-7b1f1a1856fa 22 35028569 35028569 G A SNP MYH9 NM_002473 human genbank 54_36p -1 reviewed silent c.2490 p.L830 1.000 superfamily_P-loop containing nucleoside triphosphate hydrolases HMMPfam_Myosin_N,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00242,HMMPfam_Myosin_head,HMMSmart_SM00015,HMMPfam_IQ,superfamily_Prefoldin,HMMPfam_Myosin_tail_1,superfamily_Regulator of G-protein signaling RGS - no_errors RET 5979 genome.wustl.edu 36 10 42932150 42932150 + Missense_Mutation SNP C C T novel unknown TCGA-13-2066-01A-01D-1526-09 TCGA-13-2066-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ae34e8ba-0ca3-4c68-9379-28135af0646f 0596464f-371f-46ef-a427-7b1f1a1856fa 10 42932150 42932150 C T SNP RET NM_020975 human genbank 54_36p +1 reviewed missense c.2249 p.A750V 1.000 superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_PROTEIN_KINASE_ATP superfamily_Cadherin,HMMPfam_Cadherin,HMMSmart_CA,superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_TYR - no_errors ABCG8 64241 genome.wustl.edu 36 2 43952748 43952748 + Missense_Mutation SNP C C T novel unknown TCGA-13-2066-01A-01D-1526-09 TCGA-13-2066-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ae34e8ba-0ca3-4c68-9379-28135af0646f 0596464f-371f-46ef-a427-7b1f1a1856fa 2 43952748 43952748 C T SNP ABCG8 NM_022437 human genbank 54_36p +1 reviewed missense c.1094 p.T365M 0.000 NULL superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_ABC_tran,PatternScan_ABC_TRANSPORTER_1,HMMPfam_ABC2_membrane - no_errors CDH22 64405 genome.wustl.edu 36 20 44289623 44289623 + Missense_Mutation SNP C C T novel unknown TCGA-13-2066-01A-01D-1526-09 TCGA-13-2066-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ae34e8ba-0ca3-4c68-9379-28135af0646f 0596464f-371f-46ef-a427-7b1f1a1856fa 20 44289623 44289623 C T SNP CDH22 NM_021248 human genbank 54_36p -1 reviewed missense c.601 p.G201S 1.000 superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112 superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin_C - no_errors ZNF502 91392 genome.wustl.edu 36 3 44738291 44738291 + Silent SNP C C T novel unknown TCGA-13-2066-01A-01D-1526-09 TCGA-13-2066-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ae34e8ba-0ca3-4c68-9379-28135af0646f 0596464f-371f-46ef-a427-7b1f1a1856fa 3 44738291 44738291 C T SNP ZNF502 NM_033210 human genbank 54_36p +1 validated silent c.978 p.D326 0.000 superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1 superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1 - no_errors TUBGCP6 85378 genome.wustl.edu 36 22 49001725 49001725 + Missense_Mutation SNP C C T novel unknown TCGA-13-2066-01A-01D-1526-09 TCGA-13-2066-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ae34e8ba-0ca3-4c68-9379-28135af0646f 0596464f-371f-46ef-a427-7b1f1a1856fa 22 49001725 49001725 C T SNP TUBGCP6 NM_020461 human genbank 54_36p -1 reviewed missense c.3190 p.G1064R 0.323 HMMPfam_Spc97_Spc98 HMMPfam_Spc97_Spc98 - no_errors SSX7 280658 genome.wustl.edu 36 X 52691239 52691239 + Missense_Mutation SNP G G T novel unknown TCGA-13-2066-01A-01D-1526-09 TCGA-13-2066-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ae34e8ba-0ca3-4c68-9379-28135af0646f 0596464f-371f-46ef-a427-7b1f1a1856fa X 52691239 52691239 G T SNP SSX7 NM_173358 human genbank 54_36p -1 reviewed missense c.546 p.D182E 0.011 HMMPfam_SSXRD superfamily_Krueppel-associated_box,HMMSmart_KRAB,HMMPfam_SSXRD - no_errors OR4P4 81300 genome.wustl.edu 36 11 55162598 55162598 + Nonsense_Mutation SNP C C G novel unknown TCGA-13-2066-01A-01D-1526-09 TCGA-13-2066-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ae34e8ba-0ca3-4c68-9379-28135af0646f 0596464f-371f-46ef-a427-7b1f1a1856fa 11 55162598 55162598 C G SNP OR4P4 NM_001004124 human genbank 54_36p +1 provisional nonsense c.189 p.Y63* 0.299 superfamily_SSF81321,HMMPfam_7tm_1 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors COQ9 57017 genome.wustl.edu 36 16 56044227 56044227 + Missense_Mutation SNP G A A novel unknown TCGA-13-2066-01A-01D-1526-09 TCGA-13-2066-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ae34e8ba-0ca3-4c68-9379-28135af0646f 0596464f-371f-46ef-a427-7b1f1a1856fa 16 56044227 56044227 G A SNP COQ9 NM_020312 human genbank 54_36p +1 provisional missense c.256 p.G86S 0.989 NULL HMMPfam_COQ9 - no_errors PLK2 10769 genome.wustl.edu 36 5 57788662 57788662 + Missense_Mutation SNP G G T novel unknown TCGA-13-2066-01A-01D-1526-09 TCGA-13-2066-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ae34e8ba-0ca3-4c68-9379-28135af0646f 0596464f-371f-46ef-a427-7b1f1a1856fa 5 57788662 57788662 G T SNP PLK2 NM_006622 human genbank 54_36p -1 validated missense c.1023 p.D341E 0.999 superfamily_Kinase_like superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST,superfamily_SSF82615,HMMPfam_POLO_box - no_errors OR5AN1 390195 genome.wustl.edu 36 11 58888723 58888723 + Silent SNP C C G novel unknown TCGA-13-2066-01A-01D-1526-09 TCGA-13-2066-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ae34e8ba-0ca3-4c68-9379-28135af0646f 0596464f-371f-46ef-a427-7b1f1a1856fa 11 58888723 58888723 C G SNP OR5AN1 NM_001004729 human genbank 54_36p +1 provisional silent c.216 p.V72 0.368 superfamily_SSF81321,HMMPfam_7tm_1 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors CDH7 1005 genome.wustl.edu 36 18 61698724 61698724 + Missense_Mutation SNP G G A novel unknown TCGA-13-2066-01A-01D-1526-09 TCGA-13-2066-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ae34e8ba-0ca3-4c68-9379-28135af0646f 0596464f-371f-46ef-a427-7b1f1a1856fa 18 61698724 61698724 G A SNP CDH7 NM_004361 human genbank 54_36p +1 reviewed missense c.1972 p.G658R 0.994 HMMPfam_Cadherin_C superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin_C - no_errors LOC641765 641765 genome.wustl.edu 36 7 65621148 65621148 + Missense_Mutation SNP C C G novel unknown TCGA-13-2066-01A-01D-1526-09 TCGA-13-2066-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ae34e8ba-0ca3-4c68-9379-28135af0646f 0596464f-371f-46ef-a427-7b1f1a1856fa 7 65621148 65621148 C G SNP LOC641765 XM_001129421 human genbank 54_36p +1 model missense c.483 p.F161L 0.133 NULL HMMPfam_GTF2I - no_errors LOC100131940 0 genome.wustl.edu 36 4 77484868 77484868 + RNA SNP G G A novel unknown TCGA-13-2066-01A-01D-1526-09 TCGA-13-2066-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ae34e8ba-0ca3-4c68-9379-28135af0646f 0596464f-371f-46ef-a427-7b1f1a1856fa 4 77484868 77484868 G A SNP LOC100131940 XR_037574 human genbank 54_36p +1 model rna NULL NULL 1.000 - - - pseudogene KCTD21 283219 genome.wustl.edu 36 11 77562858 77562858 + Missense_Mutation SNP G A A novel unknown TCGA-13-2066-01A-01D-1526-09 TCGA-13-2066-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ae34e8ba-0ca3-4c68-9379-28135af0646f 0596464f-371f-46ef-a427-7b1f1a1856fa 11 77562858 77562858 G A SNP KCTD21 NM_001029859 human genbank 54_36p -1 provisional missense c.391 p.P131S 0.961 NULL superfamily_BTB/POZ_fold,HMMSmart_BTB,HMMPfam_K_tetra - no_errors ENSG00000214069 0 genome.wustl.edu 36 17 78379187 78379187 + Missense_Mutation SNP C T T novel unknown TCGA-13-2066-01A-01D-1526-09 TCGA-13-2066-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ae34e8ba-0ca3-4c68-9379-28135af0646f 0596464f-371f-46ef-a427-7b1f1a1856fa 17 78379187 78379187 C T SNP ENSG00000214069 ENST00000397438 human ensembl 54_36p +1 known missense c.170 p.T57M 0.980 NULL NULL - no_stop_codon CHM 1121 genome.wustl.edu 36 X 85120476 85120476 + Missense_Mutation SNP T T A novel unknown TCGA-13-2066-01A-01D-1526-09 TCGA-13-2066-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ae34e8ba-0ca3-4c68-9379-28135af0646f 0596464f-371f-46ef-a427-7b1f1a1856fa X 85120476 85120476 T A SNP CHM NM_000390 human genbank 54_36p -1 reviewed missense c.265 p.S89C 0.993 superfamily_SSF51905,HMMPfam_GDI superfamily_SSF51905,HMMPfam_GDI,superfamily_SSF54373 - no_errors HAPLN3 145864 genome.wustl.edu 36 15 87225837 87225837 + Missense_Mutation SNP C C T novel unknown TCGA-13-2066-01A-01D-1526-09 TCGA-13-2066-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ae34e8ba-0ca3-4c68-9379-28135af0646f 0596464f-371f-46ef-a427-7b1f1a1856fa 15 87225837 87225837 C T SNP HAPLN3 NM_178232 human genbank 54_36p -1 reviewed missense c.248 p.R83H 0.147 superfamily_Immunoglobulin,HMMPfam_V-set,HMMSmart_SM00409,HMMSmart_SM00406 superfamily_Immunoglobulin,HMMPfam_V-set,HMMSmart_SM00409,HMMSmart_SM00406,HMMSmart_SM00445,HMMPfam_Xlink,superfamily_C-type lectin-like,PatternScan_LINK_1 - no_errors DEGS2 123099 genome.wustl.edu 36 14 99685698 99685698 + Missense_Mutation SNP C C T novel unknown TCGA-13-2066-01A-01D-1526-09 TCGA-13-2066-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ae34e8ba-0ca3-4c68-9379-28135af0646f 0596464f-371f-46ef-a427-7b1f1a1856fa 14 99685698 99685698 C T SNP DEGS2 NM_206918 human genbank 54_36p -1 reviewed missense c.185 p.R62H 0.757 NULL HMMPfam_Lipid_DES,HMMPfam_FA_desaturase - no_errors MUC17 140453 genome.wustl.edu 36 7 100466824 100466824 + Missense_Mutation SNP C C A novel unknown TCGA-13-2066-01A-01D-1526-09 TCGA-13-2066-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ae34e8ba-0ca3-4c68-9379-28135af0646f 0596464f-371f-46ef-a427-7b1f1a1856fa 7 100466824 100466824 C A SNP MUC17 NM_001040105 human genbank 54_36p +1 provisional missense c.5407 p.L1803I 0.004 NULL superfamily_EGF/Laminin,PatternScan_EGF_1,superfamily_SEA domain,HMMSmart_SM00200,HMMPfam_SEA - no_errors GRIK2 2898 genome.wustl.edu 36 6 102413892 102413892 + Missense_Mutation SNP C C T novel unknown TCGA-13-2066-01A-01D-1526-09 TCGA-13-2066-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ae34e8ba-0ca3-4c68-9379-28135af0646f 0596464f-371f-46ef-a427-7b1f1a1856fa 6 102413892 102413892 C T SNP GRIK2 NM_021956 human genbank 54_36p +1 reviewed missense c.1355 p.P452L 1.000 HMMSmart_SM00079,superfamily_Periplasmic binding protein-like II,HMMPfam_Lig_chan-Glu_bd superfamily_Periplasmic binding protein-like I,HMMPfam_ANF_receptor,HMMSmart_SM00079,superfamily_Periplasmic binding protein-like II,HMMPfam_Lig_chan-Glu_bd,HMMPfam_Lig_chan - no_errors MCC 4163 genome.wustl.edu 36 5 112657925 112657925 + Silent SNP C C T novel unknown TCGA-13-2066-01A-01D-1526-09 TCGA-13-2066-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ae34e8ba-0ca3-4c68-9379-28135af0646f 0596464f-371f-46ef-a427-7b1f1a1856fa 5 112657925 112657925 C T SNP MCC NM_002387 human genbank 54_36p -1 reviewed silent c.57 p.E19 1.000 NULL HMMPfam_MCC-bdg_PDZ - no_errors F10 2159 genome.wustl.edu 36 13 112851623 112851623 + Missense_Mutation SNP G G A novel unknown TCGA-13-2066-01A-01D-1526-09 TCGA-13-2066-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ae34e8ba-0ca3-4c68-9379-28135af0646f 0596464f-371f-46ef-a427-7b1f1a1856fa 13 112851623 112851623 G A SNP F10 NM_000504 human genbank 54_36p +1 reviewed missense c.1258 p.G420R 1.000 superfamily_Trypsin-like serine proteases,HMMSmart_SM00020,HMMPfam_Trypsin,PatternScan_TRYPSIN_SER HMMSmart_SM00069,superfamily_GLA-domain,HMMPfam_Gla,PatternScan_GLA_1,PatternScan_EGF_CA,HMMSmart_SM00179,HMMSmart_SM00181,HMMPfam_EGF,PatternScan_ASX_HYDROXYL,PatternScan_EGF_1,PatternScan_EGF_2,superfamily_EGF/Laminin,superfamily_Trypsin-like serine proteases,HMMSmart_SM00020,HMMPfam_Trypsin,PatternScan_TRYPSIN_HIS,PatternScan_TRYPSIN_SER - no_errors CUL4B 8450 genome.wustl.edu 36 X 119578156 119578156 + Silent SNP G G A novel unknown TCGA-13-2066-01A-01D-1526-09 TCGA-13-2066-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ae34e8ba-0ca3-4c68-9379-28135af0646f 0596464f-371f-46ef-a427-7b1f1a1856fa X 119578156 119578156 G A SNP CUL4B NM_003588 human genbank 54_36p -1 reviewed silent c.420 p.S140 1.000 NULL "superfamily_Cullin repeat,HMMPfam_Cullin,superfamily_Cullin homology domain,HMMSmart_SM00182,superfamily_""Winged helix"" DNA-binding domain,HMMPfam_Cullin_Nedd8,PatternScan_CULLIN_1" - no_errors SNX2 6643 genome.wustl.edu 36 5 122182576 122182576 + Nonsense_Mutation SNP G G T novel unknown TCGA-13-2066-01A-01D-1526-09 TCGA-13-2066-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ae34e8ba-0ca3-4c68-9379-28135af0646f 0596464f-371f-46ef-a427-7b1f1a1856fa 5 122182576 122182576 G T SNP SNX2 NM_003100 human genbank 54_36p +1 reviewed nonsense c.1171 p.E391* 1.000 HMMPfam_Vps5 HMMPfam_Sorting_nexin,superfamily_PX domain,HMMPfam_PX,HMMSmart_SM00312,HMMPfam_Vps5 - no_errors ITGB5 3693 genome.wustl.edu 36 3 125967850 125967850 + Missense_Mutation SNP A A G novel unknown TCGA-13-2066-01A-01D-1526-09 TCGA-13-2066-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ae34e8ba-0ca3-4c68-9379-28135af0646f 0596464f-371f-46ef-a427-7b1f1a1856fa 3 125967850 125967850 A G SNP ITGB5 NM_002213 human genbank 54_36p -1 provisional missense c.2050 p.Y684H 1.000 superfamily_Integrin_bsu_tail,HMMPfam_Integrin_B_tail HMMSmart_PSI,HMMPfam_Integrin_beta,HMMSmart_INB,superfamily_SSF53300,HMMSmart_VWA,superfamily_SSF69179,HMMPfam_EGF_2,PatternScan_EGF_1,PatternScan_EGF_2,PatternScan_INTEGRIN_BETA,superfamily_SSF57196,HMMSmart_EGF,superfamily_Integrin_bsu_tail,HMMPfam_Integrin_B_tail,HMMPfam_Integrin_b_cyt - no_errors TRIB1 10221 genome.wustl.edu 36 8 126514912 126514912 + Missense_Mutation SNP C C T novel unknown TCGA-13-2066-01A-01D-1526-09 TCGA-13-2066-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ae34e8ba-0ca3-4c68-9379-28135af0646f 0596464f-371f-46ef-a427-7b1f1a1856fa 8 126514912 126514912 C T SNP TRIB1 NM_025195 human genbank 54_36p +1 validated missense c.532 p.R178W 1.000 HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like) HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase - no_errors LOC387820 387820 genome.wustl.edu 36 11 127316136 127316136 + RNA SNP C C A novel unknown TCGA-13-2066-01A-01D-1526-09 TCGA-13-2066-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ae34e8ba-0ca3-4c68-9379-28135af0646f 0596464f-371f-46ef-a427-7b1f1a1856fa 11 127316136 127316136 C A SNP LOC387820 XR_017453 human genbank 54_36p -1 model rna NULL NULL 1.000 - - - pseudogene LAMA2 3908 genome.wustl.edu 36 6 129836106 129836106 + Missense_Mutation SNP C C T novel unknown TCGA-13-2066-01A-01D-1526-09 TCGA-13-2066-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ae34e8ba-0ca3-4c68-9379-28135af0646f 0596464f-371f-46ef-a427-7b1f1a1856fa 6 129836106 129836106 C T SNP LAMA2 NM_000426 human genbank 54_36p +1 reviewed missense c.7355 p.S2452L 0.039 superfamily_ConA_like_lec_gl,HMMSmart_LamG,HMMPfam_Laminin_G_1 HMMSmart_LamNT,HMMPfam_Laminin_N,superfamily_Gal_bind_like,HMMPfam_Laminin_EGF,HMMSmart_EGF_Lam,superfamily_ConA_like_lec_gl,PatternScan_EGF_1,PatternScan_EGF_LAM_1,superfamily_SSF57196,PatternScan_EGF_2,HMMSmart_LamB,HMMPfam_Laminin_B,HMMPfam_Laminin_I,superfamily_SSF56399,HMMPfam_Laminin_II,HMMSmart_LamG,HMMPfam_Laminin_G_1,HMMPfam_Laminin_G_2 - no_errors EFR3A 23167 genome.wustl.edu 36 8 133057503 133057503 + Missense_Mutation SNP A A T novel unknown TCGA-13-2066-01A-01D-1526-09 TCGA-13-2066-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ae34e8ba-0ca3-4c68-9379-28135af0646f 0596464f-371f-46ef-a427-7b1f1a1856fa 8 133057503 133057503 A T SNP EFR3A NM_015137 human genbank 54_36p +1 validated missense c.1207 p.M403L 1.000 NULL superfamily_ARM repeat - no_errors KCNQ3 3786 genome.wustl.edu 36 8 133210998 133210998 + Missense_Mutation SNP G A A novel unknown TCGA-13-2066-01A-01D-1526-09 TCGA-13-2066-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ae34e8ba-0ca3-4c68-9379-28135af0646f 0596464f-371f-46ef-a427-7b1f1a1856fa 8 133210998 133210998 G A SNP KCNQ3 NM_004519 human genbank 54_36p -1 reviewed missense c.2312 p.S771L 0.366 NULL superfamily_SSF81324,HMMPfam_Ion_trans,HMMPfam_KCNQ_channel - no_errors CLIC3 9022 genome.wustl.edu 36 9 139008983 139008983 + Missense_Mutation SNP C C A novel unknown TCGA-13-2066-01A-01D-1526-09 TCGA-13-2066-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ae34e8ba-0ca3-4c68-9379-28135af0646f 0596464f-371f-46ef-a427-7b1f1a1856fa 9 139008983 139008983 C A SNP CLIC3 NM_004669 human genbank 54_36p -1 reviewed missense c.682 p.A228S 0.964 superfamily_GST_C_like superfamily_Thiordxn-like_fd,superfamily_GST_C_like - no_errors PCDHB17 54661 genome.wustl.edu 36 5 140517815 140517815 + RNA SNP G G A novel unknown TCGA-13-2066-01A-01D-1526-09 TCGA-13-2066-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ae34e8ba-0ca3-4c68-9379-28135af0646f 0596464f-371f-46ef-a427-7b1f1a1856fa 5 140517815 140517815 G A SNP PCDHB17 NR_001280 human genbank 54_36p +1 provisional rna NULL NULL 0.008 - - - pseudogene PCDHGA11 56105 genome.wustl.edu 36 5 140782715 140782715 + Silent SNP G G A novel unknown TCGA-13-2066-01A-01D-1526-09 TCGA-13-2066-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ae34e8ba-0ca3-4c68-9379-28135af0646f 0596464f-371f-46ef-a427-7b1f1a1856fa 5 140782715 140782715 G A SNP PCDHGA11 NM_018914 human genbank 54_36p +1 reviewed silent c.1737 p.A579 0.080 superfamily_Cadherin-like superfamily_Cadherin-like,HMMPfam_Cadherin_2,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin - no_errors TRIM42 287015 genome.wustl.edu 36 3 141890015 141890015 + Missense_Mutation SNP G G A novel unknown TCGA-13-2066-01A-01D-1526-09 TCGA-13-2066-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ae34e8ba-0ca3-4c68-9379-28135af0646f 0596464f-371f-46ef-a427-7b1f1a1856fa 3 141890015 141890015 G A SNP TRIM42 NM_152616 human genbank 54_36p +1 reviewed missense c.1801 p.V601M 0.001 superfamily_Fibronectin type III PatternScan_TNFR_NGFR_1,superfamily_RING/U-box,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1,HMMSmart_SM00336,HMMPfam_zf-B_box,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3 - no_errors POLR3C 10623 genome.wustl.edu 36 1 144309922 144309922 + Missense_Mutation SNP G G C novel unknown TCGA-13-2066-01A-01D-1526-09 TCGA-13-2066-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ae34e8ba-0ca3-4c68-9379-28135af0646f 0596464f-371f-46ef-a427-7b1f1a1856fa 1 144309922 144309922 G C SNP POLR3C NM_006468 human genbank 54_36p -1 provisional missense c.928 p.Q310E 1.000 HMMPfam_RNA_pol_Rpc82 HMMPfam_HTH_9,HMMPfam_RNA_pol_Rpc82 - no_errors FLJ16423 642889 genome.wustl.edu 36 X 148441667 148441667 + RNA SNP G G A novel unknown TCGA-13-2066-01A-01D-1526-09 TCGA-13-2066-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ae34e8ba-0ca3-4c68-9379-28135af0646f 0596464f-371f-46ef-a427-7b1f1a1856fa X 148441667 148441667 G A SNP FLJ16423 XR_041441 human genbank 54_36p +1 model rna NULL NULL 0.000 - - - no_errors HMGB3 3149 genome.wustl.edu 36 X 149906997 149906997 + Silent SNP A A G novel unknown TCGA-13-2066-01A-01D-1526-09 TCGA-13-2066-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ae34e8ba-0ca3-4c68-9379-28135af0646f 0596464f-371f-46ef-a427-7b1f1a1856fa X 149906997 149906997 A G SNP HMGB3 NM_005342 human genbank 54_36p +1 validated silent c.555 p.E185 0.996 NULL superfamily_HMG-box,HMMPfam_HMG_box,HMMSmart_HMG,PatternScan_HMG_BOX_1 - no_errors LCE3E 353145 genome.wustl.edu 36 1 150805273 150805273 + Silent SNP G T T novel unknown TCGA-13-2066-01A-01D-1526-09 TCGA-13-2066-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ae34e8ba-0ca3-4c68-9379-28135af0646f 0596464f-371f-46ef-a427-7b1f1a1856fa 1 150805273 150805273 G T SNP LCE3E NM_178435 human genbank 54_36p -1 validated silent c.36 p.P12 0.965 NULL NULL - no_errors TLL1 7092 genome.wustl.edu 36 4 167231779 167231779 + Missense_Mutation SNP A A G novel unknown TCGA-13-2066-01A-01D-1526-09 TCGA-13-2066-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ae34e8ba-0ca3-4c68-9379-28135af0646f 0596464f-371f-46ef-a427-7b1f1a1856fa 4 167231779 167231779 A G SNP TLL1 NM_012464 human genbank 54_36p +1 reviewed missense c.2492 p.H831R 1.000 superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042 "superfamily_Metalloproteases (""zincins"") catalytic domain,HMMSmart_SM00235,HMMPfam_Astacin,superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042,PatternScan_EGF_CA,HMMSmart_SM00179,superfamily_EGF/Laminin,HMMPfam_EGF_CA,HMMSmart_SM00181,PatternScan_ASX_HYDROXYL,PatternScan_EGF_2,HMMPfam_EGF" - no_errors HMCN1 83872 genome.wustl.edu 36 1 184323064 184323064 + Nonsense_Mutation SNP A A T novel unknown TCGA-13-2066-01A-01D-1526-09 TCGA-13-2066-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ae34e8ba-0ca3-4c68-9379-28135af0646f 0596464f-371f-46ef-a427-7b1f1a1856fa 1 184323064 184323064 A T SNP HMCN1 NM_031935 human genbank 54_36p +1 reviewed nonsense c.9139 p.K3047* 0.861 superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409 superfamily_vWA-like,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMPfam_ig,HMMSmart_SM00408,HMMPfam_I-set,HMMSmart_SM00406,PatternScan_CECROPIN,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,HMMSmart_SM00682,HMMPfam_G2F,superfamily_GFP-like,PatternScan_EGF_CA,HMMSmart_SM00179,superfamily_EGF/Laminin,HMMSmart_SM00181,HMMPfam_EGF,PatternScan_ASX_HYDROXYL,HMMPfam_EGF_CA,PatternScan_EGF_2 - no_errors ATP2B4 493 genome.wustl.edu 36 1 201947864 201947864 + Missense_Mutation SNP C C T novel unknown TCGA-13-2066-01A-01D-1526-09 TCGA-13-2066-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx ae34e8ba-0ca3-4c68-9379-28135af0646f 0596464f-371f-46ef-a427-7b1f1a1856fa 1 201947864 201947864 C T SNP ATP2B4 NM_001684 human genbank 54_36p +1 reviewed missense c.2185 p.R729W 0.986 superfamily_Calcium ATPase transmembrane domain M,HMMPfam_Hydrolase,superfamily_HAD-like HMMPfam_Cation_ATPase_N,superfamily_Calcium ATPase transmembrane domain M,HMMPfam_E1-E2_ATPase,superfamily_Calcium ATPase transduction domain A,HMMPfam_Hydrolase,superfamily_HAD-like,PatternScan_ATPASE_E1_E2,superfamily_Metal cation-transporting ATPase ATP-binding domain N,HMMPfam_Cation_ATPase_C - no_errors