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 KANK1 23189 genome.wustl.edu 36 9 702314 702314 + Silent SNP G T T novel unknown TCGA-61-1915-01A-01W-0639-09 TCGA-61-1915-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d0d915b-e84b-437a-88ad-c5b913bd54fe 940e219f-21f2-4ef6-bc8e-f0c382d0a6c2 9 702314 702314 G T SNP KANK1 NM_015158 human genbank 54_36p +1 reviewed silent c.1548 p.V516 1.000 superfamily_ANK superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank - no_errors PCGF3 10336 genome.wustl.edu 36 4 717539 717539 + Missense_Mutation SNP C C G novel unknown TCGA-61-1915-01A-01W-0639-09 TCGA-61-1915-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d0d915b-e84b-437a-88ad-c5b913bd54fe 940e219f-21f2-4ef6-bc8e-f0c382d0a6c2 4 717539 717539 C G SNP PCGF3 NM_006315 human genbank 54_36p +1 reviewed missense c.70 p.L24V 1.000 superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4 superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1 - no_errors PSMF1 9491 genome.wustl.edu 36 20 1063936 1063936 + Missense_Mutation SNP C C T novel unknown TCGA-61-1915-01A-01W-0639-09 TCGA-61-1915-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d0d915b-e84b-437a-88ad-c5b913bd54fe 940e219f-21f2-4ef6-bc8e-f0c382d0a6c2 20 1063936 1063936 C T SNP PSMF1 NM_006814 human genbank 54_36p +1 reviewed missense c.538 p.R180W 0.999 NULL HMMPfam_PI31_Prot_Reg - no_errors SDCBP2 27111 genome.wustl.edu 36 20 1241341 1241341 + Missense_Mutation SNP G G C novel unknown TCGA-61-1915-01A-01W-0639-09 TCGA-61-1915-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d0d915b-e84b-437a-88ad-c5b913bd54fe 940e219f-21f2-4ef6-bc8e-f0c382d0a6c2 20 1241341 1241341 G C SNP SDCBP2 NM_080489 human genbank 54_36p -1 validated missense c.450 p.D150E 1.000 superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228 superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228 - no_errors BTBD12 84464 genome.wustl.edu 36 16 3598571 3598571 + Silent SNP T T C novel unknown TCGA-61-1915-01A-01W-0639-09 TCGA-61-1915-11A-01W-0640-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d0d915b-e84b-437a-88ad-c5b913bd54fe 940e219f-21f2-4ef6-bc8e-f0c382d0a6c2 16 3598571 3598571 T C SNP BTBD12 NM_032444 human genbank 54_36p -1 provisional silent c.396 p.E132 0.000 NULL superfamily_POZ domain,HMMPfam_BTB,HMMSmart_SM00225 - no_errors TP53 7157 genome.wustl.edu 36 17 7518913 7518913 + Nonsense_Mutation SNP C C A novel unknown TCGA-61-1915-01A-01W-0639-09 TCGA-61-1915-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d0d915b-e84b-437a-88ad-c5b913bd54fe 940e219f-21f2-4ef6-bc8e-f0c382d0a6c2 17 7518913 7518913 C A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed nonsense c.661 p.E221* 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 ENSG00000197320 0 genome.wustl.edu 36 7 9734278 9734278 + Silent SNP A A G novel unknown TCGA-61-1915-01A-01W-0639-09 TCGA-61-1915-11A-01W-0640-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d0d915b-e84b-437a-88ad-c5b913bd54fe 940e219f-21f2-4ef6-bc8e-f0c382d0a6c2 7 9734278 9734278 A G SNP ENSG00000197320 ENST00000361014 human ensembl 54_36p +1 known silent c.1242 p.E414 0.998 NULL HMMPfam_A2M_N - no_stop_codon KLRK1 22914 genome.wustl.edu 36 12 10423337 10423337 + Missense_Mutation SNP G G C novel unknown TCGA-61-1915-01A-01W-0639-09 TCGA-61-1915-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d0d915b-e84b-437a-88ad-c5b913bd54fe 940e219f-21f2-4ef6-bc8e-f0c382d0a6c2 12 10423337 10423337 G C SNP KLRK1 NM_007360 human genbank 54_36p -1 reviewed missense c.253 p.Q85E 0.004 NULL superfamily_C-type lectin-like,HMMSmart_SM00034,HMMPfam_Lectin_C - no_errors TNFRSF8 943 genome.wustl.edu 36 1 12079748 12079748 + Missense_Mutation SNP T T A novel unknown TCGA-61-1915-01A-01W-0639-09 TCGA-61-1915-11A-01W-0640-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d0d915b-e84b-437a-88ad-c5b913bd54fe 940e219f-21f2-4ef6-bc8e-f0c382d0a6c2 1 12079748 12079748 T A SNP TNFRSF8 NM_001243 human genbank 54_36p +1 reviewed missense c.155 p.L52Q 0.000 HMMPfam_TNFR_c6,HMMSmart_SM00208,superfamily_TNF receptor-like HMMPfam_TNFR_c6,HMMSmart_SM00208,superfamily_TNF receptor-like,PatternScan_TNFR_NGFR_1 - no_errors NUP210 23225 genome.wustl.edu 36 3 13382537 13382537 + Missense_Mutation SNP G G C novel unknown TCGA-61-1915-01A-01W-0639-09 TCGA-61-1915-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d0d915b-e84b-437a-88ad-c5b913bd54fe 940e219f-21f2-4ef6-bc8e-f0c382d0a6c2 3 13382537 13382537 G C SNP NUP210 NM_024923 human genbank 54_36p -1 reviewed missense c.1841 p.A614G 0.466 NULL superfamily_Invasin/intimin cell-adhesion fragments,HMMPfam_Big_2,HMMSmart_SM00635 - no_errors LIPI 149998 genome.wustl.edu 36 21 14475976 14475976 + Missense_Mutation SNP A A C novel unknown TCGA-61-1915-01A-01W-0639-09 TCGA-61-1915-11A-01W-0640-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d0d915b-e84b-437a-88ad-c5b913bd54fe 940e219f-21f2-4ef6-bc8e-f0c382d0a6c2 21 14475976 14475976 A C SNP LIPI NM_198996 human genbank 54_36p -1 validated missense c.680 p.V227G 1.000 HMMPfam_Lipase,superfamily_SSF53474 HMMPfam_Lipase,superfamily_SSF53474 - no_errors SLC6A6 6533 genome.wustl.edu 36 3 14483105 14483105 + Silent SNP G G A novel unknown TCGA-61-1915-01A-01W-0639-09 TCGA-61-1915-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d0d915b-e84b-437a-88ad-c5b913bd54fe 940e219f-21f2-4ef6-bc8e-f0c382d0a6c2 3 14483105 14483105 G A SNP SLC6A6 NM_003043 human genbank 54_36p +1 validated silent c.810 p.A270 0.280 HMMPfam_SNF HMMPfam_SNF,PatternScan_NA_NEUROTRAN_SYMP_1,PatternScan_NA_NEUROTRAN_SYMP_2 - no_errors IGSF22 283284 genome.wustl.edu 36 11 18695039 18695039 + Missense_Mutation SNP T T G novel unknown TCGA-61-1915-01A-01W-0639-09 TCGA-61-1915-11A-01W-0640-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d0d915b-e84b-437a-88ad-c5b913bd54fe 940e219f-21f2-4ef6-bc8e-f0c382d0a6c2 11 18695039 18695039 T G SNP IGSF22 NM_173588 human genbank 54_36p -1 validated missense c.1058 p.K353T 0.985 superfamily_SSF48726,HMMPfam_I-set,HMMSmart_IG superfamily_SSF48726,HMMPfam_I-set,HMMSmart_IG,superfamily_FN_III-like,HMMSmart_FN3,HMMPfam_fn3 - no_errors DENND4C 55667 genome.wustl.edu 36 9 19336042 19336042 + Missense_Mutation SNP G G C novel unknown TCGA-61-1915-01A-01W-0639-09 TCGA-61-1915-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d0d915b-e84b-437a-88ad-c5b913bd54fe 940e219f-21f2-4ef6-bc8e-f0c382d0a6c2 9 19336042 19336042 G C SNP DENND4C NM_017925 human genbank 54_36p +1 provisional missense c.2420 p.R807T 1.000 NULL HMMPfam_DENN,HMMSmart_SM00799,HMMPfam_dDENN,HMMSmart_SM00801,HMMPfam_PPR - no_errors ZMYM2 7750 genome.wustl.edu 36 13 19465974 19465974 + Silent SNP T T C novel unknown TCGA-61-1915-01A-01W-0639-09 TCGA-61-1915-11A-01W-0640-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d0d915b-e84b-437a-88ad-c5b913bd54fe 940e219f-21f2-4ef6-bc8e-f0c382d0a6c2 13 19465974 19465974 T C SNP ZMYM2 NM_003453 human genbank 54_36p +1 validated silent c.762 p.T254 1.000 NULL HMMPfam_zf-FCS,HMMSmart_TRASH - no_errors RIN2 54453 genome.wustl.edu 36 20 19903642 19903642 + Missense_Mutation SNP C C G novel unknown TCGA-61-1915-01A-01W-0639-09 TCGA-61-1915-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d0d915b-e84b-437a-88ad-c5b913bd54fe 940e219f-21f2-4ef6-bc8e-f0c382d0a6c2 20 19903642 19903642 C G SNP RIN2 NM_018993 human genbank 54_36p +1 reviewed missense c.973 p.L325V 1.000 NULL superfamily_SH2 domain,superfamily_VPS9 domain (Pfam 02204),HMMSmart_SM00167,HMMPfam_VPS9,HMMPfam_RA,HMMSmart_SM00314 - no_errors LZTS1 11178 genome.wustl.edu 36 8 20156662 20156662 + Missense_Mutation SNP G G T novel unknown TCGA-61-1915-01A-01W-0639-09 TCGA-61-1915-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d0d915b-e84b-437a-88ad-c5b913bd54fe 940e219f-21f2-4ef6-bc8e-f0c382d0a6c2 8 20156662 20156662 G T SNP LZTS1 NM_021020 human genbank 54_36p -1 validated missense c.311 p.P104H 0.982 NULL HMMPfam_Fez1 - no_errors NEBL 10529 genome.wustl.edu 36 10 21501362 21501362 + Silent SNP G G A novel unknown TCGA-61-1915-01A-01W-0639-09 TCGA-61-1915-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d0d915b-e84b-437a-88ad-c5b913bd54fe 940e219f-21f2-4ef6-bc8e-f0c382d0a6c2 10 21501362 21501362 G A SNP NEBL NM_213569 human genbank 54_36p -1 validated silent c.120 p.N40 1.000 HMMSmart_LIM,HMMPfam_LIM superfamily_SSF57716,HMMSmart_LIM,PatternScan_LIM_DOMAIN_1,HMMPfam_LIM,HMMSmart_NEBU,HMMPfam_Nebulin,superfamily_SH3,HMMPfam_SH3_1,HMMSmart_SH3 - no_errors AP1G2 8906 genome.wustl.edu 36 14 23106243 23106243 + Missense_Mutation SNP C C T novel unknown TCGA-61-1915-01A-01W-0639-09 TCGA-61-1915-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d0d915b-e84b-437a-88ad-c5b913bd54fe 940e219f-21f2-4ef6-bc8e-f0c382d0a6c2 14 23106243 23106243 C T SNP AP1G2 NM_003917 human genbank 54_36p -1 reviewed missense c.121 p.D41N 1.000 superfamily_ARM-type_fold,HMMPfam_Adaptin_N superfamily_ARM-type_fold,HMMPfam_Adaptin_N,superfamily_Clath_adapt,HMMPfam_Alpha_adaptinC2,HMMSmart_Alpha_adaptinC2 - no_errors IGF2BP3 10643 genome.wustl.edu 36 7 23348229 23348229 + Silent SNP A A C novel unknown TCGA-61-1915-01A-01W-0639-09 TCGA-61-1915-11A-01W-0640-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d0d915b-e84b-437a-88ad-c5b913bd54fe 940e219f-21f2-4ef6-bc8e-f0c382d0a6c2 7 23348229 23348229 A C SNP IGF2BP3 NM_006547 human genbank 54_36p -1 reviewed silent c.1182 p.T394 0.997 superfamily_Eukaryotic type KH-domain (KH-domain type I) superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1,superfamily_Eukaryotic type KH-domain (KH-domain type I),HMMSmart_SM00322,HMMPfam_KH_1 - no_errors ZNF337 26152 genome.wustl.edu 36 20 25605433 25605433 + Missense_Mutation SNP T T C novel unknown TCGA-61-1915-01A-01W-0639-09 TCGA-61-1915-11A-01W-0640-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d0d915b-e84b-437a-88ad-c5b913bd54fe 940e219f-21f2-4ef6-bc8e-f0c382d0a6c2 20 25605433 25605433 T C SNP ZNF337 NM_015655 human genbank 54_36p -1 validated missense c.491 p.E164G 0.056 NULL superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,HMMSmart_ZnF_C2H2,superfamily_SSF57667,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1 - no_errors HS3ST4 9951 genome.wustl.edu 36 16 26054666 26054666 + Silent SNP C C T novel unknown TCGA-61-1915-01A-01W-0639-09 TCGA-61-1915-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d0d915b-e84b-437a-88ad-c5b913bd54fe 940e219f-21f2-4ef6-bc8e-f0c382d0a6c2 16 26054666 26054666 C T SNP HS3ST4 ENST00000331351 human ensembl 54_36p +1 known silent c.967 p.L323 1.000 superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Sulfotransfer_1 superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Sulfotransfer_1 - no_errors CLN3 1201 genome.wustl.edu 36 16 28406549 28406549 + Missense_Mutation SNP C C T novel unknown TCGA-61-1915-01A-01W-0639-09 TCGA-61-1915-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d0d915b-e84b-437a-88ad-c5b913bd54fe 940e219f-21f2-4ef6-bc8e-f0c382d0a6c2 16 28406549 28406549 C T SNP CLN3 ENST00000333496 human ensembl 54_36p -1 known missense c.140 p.R47Q 0.915 NULL NULL - no_errors SCAND3 114821 genome.wustl.edu 36 6 28648533 28648533 + Silent SNP A A G novel unknown TCGA-61-1915-01A-01W-0639-09 TCGA-61-1915-11A-01W-0640-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d0d915b-e84b-437a-88ad-c5b913bd54fe 940e219f-21f2-4ef6-bc8e-f0c382d0a6c2 6 28648533 28648533 A G SNP SCAND3 NM_052923 human genbank 54_36p -1 provisional silent c.3112 p.L1038 1.000 NULL HMMPfam_SCAN,HMMSmart_SCAN,superfamily_RNaseH_fold,HMMPfam_rve,HMMPfam_hATC - no_errors TRPM1 4308 genome.wustl.edu 36 15 29125708 29125708 + Silent SNP C C T novel unknown TCGA-61-1915-01A-01W-0639-09 TCGA-61-1915-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d0d915b-e84b-437a-88ad-c5b913bd54fe 940e219f-21f2-4ef6-bc8e-f0c382d0a6c2 15 29125708 29125708 C T SNP TRPM1 NM_002420 human genbank 54_36p -1 reviewed silent c.1719 p.L573 0.941 NULL HMMPfam_Ion_trans - no_errors FAM57B 83723 genome.wustl.edu 36 16 29944582 29944582 + Missense_Mutation SNP G G C novel unknown TCGA-61-1915-01A-01W-0639-09 TCGA-61-1915-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d0d915b-e84b-437a-88ad-c5b913bd54fe 940e219f-21f2-4ef6-bc8e-f0c382d0a6c2 16 29944582 29944582 G C SNP FAM57B NM_031478 human genbank 54_36p -1 validated missense c.506 p.T169R 1.000 HMMSmart_SM00724,HMMPfam_TRAM_LAG1_CLN8 HMMSmart_SM00724,HMMPfam_TRAM_LAG1_CLN8 - no_errors SNRNP40 9410 genome.wustl.edu 36 1 31537376 31537376 + Silent SNP C C T novel unknown TCGA-61-1915-01A-01W-0639-09 TCGA-61-1915-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d0d915b-e84b-437a-88ad-c5b913bd54fe 940e219f-21f2-4ef6-bc8e-f0c382d0a6c2 1 31537376 31537376 C T SNP SNRNP40 NM_004814 human genbank 54_36p -1 reviewed silent c.336 p.V112 1.000 superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40 HMMSmart_SM00320,HMMPfam_WD40,superfamily_WD40 repeat-like,PatternScan_WD_REPEATS_1 - no_errors NOTCH4 4855 genome.wustl.edu 36 6 32278069 32278069 + Missense_Mutation SNP G G A novel unknown TCGA-61-1915-01A-01W-0639-09 TCGA-61-1915-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d0d915b-e84b-437a-88ad-c5b913bd54fe 940e219f-21f2-4ef6-bc8e-f0c382d0a6c2 6 32278069 32278069 G A SNP NOTCH4 NM_004557 human genbank 54_36p -1 reviewed missense c.3517 p.P1173S 0.013 superfamily_EGF/Laminin,HMMSmart_SM00004,HMMPfam_Notch,superfamily_Notch domain HMMSmart_SM00181,HMMPfam_EGF,HMMSmart_SM00179,superfamily_EGF/Laminin,PatternScan_EGF_1,PatternScan_EGF_2,PatternScan_EGF_CA,HMMPfam_EGF_CA,PatternScan_ASX_HYDROXYL,superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00004,HMMPfam_Notch,superfamily_Notch domain,HMMPfam_NODP,superfamily_Ankyrin repeat,HMMPfam_Ank,HMMSmart_SM00248 - no_errors AQR 9716 genome.wustl.edu 36 15 32997864 32997864 + Missense_Mutation SNP C C G novel unknown TCGA-61-1915-01A-01W-0639-09 TCGA-61-1915-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d0d915b-e84b-437a-88ad-c5b913bd54fe 940e219f-21f2-4ef6-bc8e-f0c382d0a6c2 15 32997864 32997864 C G SNP AQR NM_014691 human genbank 54_36p -1 validated missense c.1229 p.R410P 1.000 NULL superfamily_SSF52540 - no_errors SYNGAP1 8831 genome.wustl.edu 36 6 33516561 33516561 + Missense_Mutation SNP C C T novel unknown TCGA-61-1915-01A-01W-0639-09 TCGA-61-1915-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d0d915b-e84b-437a-88ad-c5b913bd54fe 940e219f-21f2-4ef6-bc8e-f0c382d0a6c2 6 33516561 33516561 C T SNP SYNGAP1 NM_006772 human genbank 54_36p +1 validated missense c.1709 p.A570V 0.960 HMMSmart_SM00323,superfamily_GTPase activation domain GAP,HMMPfam_RasGAP HMMSmart_SM00233,superfamily_PH domain-like,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_C2,HMMSmart_SM00323,superfamily_GTPase activation domain GAP,HMMPfam_RasGAP,PatternScan_RAS_GTPASE_ACTIV_1 - no_errors ZMYM4 9202 genome.wustl.edu 36 1 35608803 35608803 + Missense_Mutation SNP C C T novel unknown TCGA-61-1915-01A-01W-0639-09 TCGA-61-1915-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d0d915b-e84b-437a-88ad-c5b913bd54fe 940e219f-21f2-4ef6-bc8e-f0c382d0a6c2 1 35608803 35608803 C T SNP ZMYM4 NM_005095 human genbank 54_36p +1 validated missense c.1169 p.S390L 1.000 HMMPfam_zf-FCS,HMMSmart_SM00746 HMMPfam_zf-FCS,HMMSmart_SM00746,PatternScan_GLYCO_HORMONE_BETA_1 - no_errors NPR2 4882 genome.wustl.edu 36 9 35791954 35791954 + Missense_Mutation SNP C G G novel unknown TCGA-61-1915-01A-01W-0639-09 TCGA-61-1915-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d0d915b-e84b-437a-88ad-c5b913bd54fe 940e219f-21f2-4ef6-bc8e-f0c382d0a6c2 9 35791954 35791954 C G SNP NPR2 NM_003995 human genbank 54_36p +1 reviewed missense c.1589 p.A530G 1.000 HMMSmart_SM00220,HMMSmart_SM00219,superfamily_Protein kinase-like (PK-like) superfamily_Periplasmic binding protein-like I,HMMPfam_ANF_receptor,PatternScan_ANF_RECEPTORS,HMMSmart_SM00220,HMMSmart_SM00219,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase,HMMSmart_SM00044,superfamily_Adenylyl and guanylyl cyclase catalytic domain,HMMPfam_Guanylate_cyc,PatternScan_GUANYLATE_CYCLASE_1 - no_errors DCLK3 85443 genome.wustl.edu 36 3 36754140 36754140 + Missense_Mutation SNP C C T novel unknown TCGA-61-1915-01A-01W-0639-09 TCGA-61-1915-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d0d915b-e84b-437a-88ad-c5b913bd54fe 940e219f-21f2-4ef6-bc8e-f0c382d0a6c2 3 36754140 36754140 C T SNP DCLK3 NM_033403 human genbank 54_36p -1 validated missense c.1015 p.G339S 0.001 superfamily_Kinase_like superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST - no_errors ANKRD30A 91074 genome.wustl.edu 36 10 37473962 37473962 + Missense_Mutation SNP A A T novel unknown TCGA-61-1915-01A-01W-0639-09 TCGA-61-1915-11A-01W-0640-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d0d915b-e84b-437a-88ad-c5b913bd54fe 940e219f-21f2-4ef6-bc8e-f0c382d0a6c2 10 37473962 37473962 A T SNP ANKRD30A NM_052997 human genbank 54_36p +1 validated missense c.1259 p.E420V 0.011 NULL superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank,PatternScan_ASP_PROTEASE - no_errors DSCR4 10281 genome.wustl.edu 36 21 38348920 38348920 + Missense_Mutation SNP C T T novel unknown TCGA-61-1915-01A-01W-0639-09 TCGA-61-1915-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d0d915b-e84b-437a-88ad-c5b913bd54fe 940e219f-21f2-4ef6-bc8e-f0c382d0a6c2 21 38348920 38348920 C T SNP DSCR4 NM_005867 human genbank 54_36p -1 reviewed missense c.256 p.A86T 0.000 NULL NULL - no_errors RICTOR 253260 genome.wustl.edu 36 5 39038396 39038396 + Silent SNP A A G novel unknown TCGA-61-1915-01A-01W-0639-09 TCGA-61-1915-11A-01W-0640-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d0d915b-e84b-437a-88ad-c5b913bd54fe 940e219f-21f2-4ef6-bc8e-f0c382d0a6c2 5 39038396 39038396 A G SNP RICTOR NM_152756 human genbank 54_36p -1 validated silent c.390 p.A130 0.998 superfamily_ARM repeat superfamily_ARM repeat,HMMPfam_RasGEF_N - no_errors MEI1 150365 genome.wustl.edu 36 22 40502081 40502081 + Silent SNP A A C novel unknown TCGA-61-1915-01A-01W-0639-09 TCGA-61-1915-11A-01W-0640-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d0d915b-e84b-437a-88ad-c5b913bd54fe 940e219f-21f2-4ef6-bc8e-f0c382d0a6c2 22 40502081 40502081 A C SNP MEI1 NM_152513 human genbank 54_36p +1 validated silent c.2574 p.T858 0.555 NULL superfamily_ARM repeat - no_errors SPG11 80208 genome.wustl.edu 36 15 42663446 42663446 + Silent SNP G G A novel unknown TCGA-61-1915-01A-01W-0639-09 TCGA-61-1915-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d0d915b-e84b-437a-88ad-c5b913bd54fe 940e219f-21f2-4ef6-bc8e-f0c382d0a6c2 15 42663446 42663446 G A SNP SPG11 NM_025137 human genbank 54_36p -1 reviewed silent c.5724 p.V1908 0.106 NULL PatternScan_GLYCOSYL_HYDROL_F1_1 - no_errors CNTNAP3B 728577 genome.wustl.edu 36 9 43789824 43789824 + Missense_Mutation SNP A A C novel unknown TCGA-61-1915-01A-01W-0639-09 TCGA-61-1915-11A-01W-0640-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d0d915b-e84b-437a-88ad-c5b913bd54fe 940e219f-21f2-4ef6-bc8e-f0c382d0a6c2 9 43789824 43789824 A C SNP CNTNAP3B XM_001128489 human genbank 54_36p +1 model missense c.1733 p.Y578S 0.998 HMMSmart_SM00181,HMMPfam_EGF,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Fibrinogen C-terminal domain-like HMMSmart_SM00231,superfamily_Galactose-binding domain-like,HMMPfam_F5_F8_type_C,PatternScan_FA58C_1,PatternScan_FA58C_2,superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00282,HMMPfam_Laminin_G_2,HMMSmart_SM00181,HMMPfam_EGF,superfamily_Fibrinogen C-terminal domain-like,PatternScan_GLYCO_HORMONE_BETA_1 - no_errors HECTD3 79654 genome.wustl.edu 36 1 45242193 45242193 + Missense_Mutation SNP C C A novel unknown TCGA-61-1915-01A-01W-0639-09 TCGA-61-1915-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d0d915b-e84b-437a-88ad-c5b913bd54fe 940e219f-21f2-4ef6-bc8e-f0c382d0a6c2 1 45242193 45242193 C A SNP HECTD3 NM_024602 human genbank 54_36p -1 validated missense c.2350 p.D784Y 1.000 HMMSmart_SM00119,superfamily_Hect E3 ligase catalytic domain,HMMPfam_HECT superfamily_Galactose-binding domain-like,HMMPfam_APC10,HMMSmart_SM00119,superfamily_Hect E3 ligase catalytic domain,HMMPfam_HECT - no_errors LRCH1 23143 genome.wustl.edu 36 13 46201053 46201053 + Missense_Mutation SNP T T C novel unknown TCGA-61-1915-01A-01W-0639-09 TCGA-61-1915-11A-01W-0640-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d0d915b-e84b-437a-88ad-c5b913bd54fe 940e219f-21f2-4ef6-bc8e-f0c382d0a6c2 13 46201053 46201053 T C SNP LRCH1 NM_015116 human genbank 54_36p +1 provisional missense c.1835 p.L612P 1.000 superfamily_Calponin-homology domain CH-domain,HMMPfam_CH,HMMSmart_SM00033 superfamily_L domain-like,HMMSmart_SM00369,HMMPfam_LRR_1,HMMSmart_SM00364,PatternScan_PTS_HPR_SER,superfamily_Calponin-homology domain CH-domain,HMMPfam_CH,HMMSmart_SM00033 - no_errors PTPN23 25930 genome.wustl.edu 36 3 47425469 47425469 + Silent SNP C C T novel unknown TCGA-61-1915-01A-01W-0639-09 TCGA-61-1915-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d0d915b-e84b-437a-88ad-c5b913bd54fe 940e219f-21f2-4ef6-bc8e-f0c382d0a6c2 3 47425469 47425469 C T SNP PTPN23 NM_015466 human genbank 54_36p +1 validated silent c.1530 p.F510 1.000 NULL HMMPfam_BRO1,superfamily_(Phosphotyrosine protein) phosphatases II,HMMSmart_SM00194,HMMPfam_Y_phosphatase,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1 - no_errors ADCY6 112 genome.wustl.edu 36 12 47453681 47453681 + Missense_Mutation SNP A A G novel unknown TCGA-61-1915-01A-01W-0639-09 TCGA-61-1915-11A-01W-0640-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d0d915b-e84b-437a-88ad-c5b913bd54fe 940e219f-21f2-4ef6-bc8e-f0c382d0a6c2 12 47453681 47453681 A G SNP ADCY6 NM_015270 human genbank 54_36p -1 reviewed missense c.2459 p.M820T 0.989 NULL HMMSmart_SM00044,superfamily_Adenylyl and guanylyl cyclase catalytic domain,HMMPfam_Guanylate_cyc,PatternScan_GUANYLATE_CYCLASE_1,HMMPfam_DUF1053 - no_errors B4GALT5 9334 genome.wustl.edu 36 20 47689679 47689679 + Missense_Mutation SNP T T C novel unknown TCGA-61-1915-01A-01W-0639-09 TCGA-61-1915-11A-01W-0640-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d0d915b-e84b-437a-88ad-c5b913bd54fe 940e219f-21f2-4ef6-bc8e-f0c382d0a6c2 20 47689679 47689679 T C SNP B4GALT5 NM_004776 human genbank 54_36p -1 validated missense c.860 p.N287S 1.000 superfamily_SSF53448,HMMPfam_Galactosyl_T_2 superfamily_SSF53448,HMMPfam_Galactosyl_T_2 - no_errors TMEM189-UBE2V1 387522 genome.wustl.edu 36 20 48193484 48193484 + Missense_Mutation SNP G G A novel unknown TCGA-61-1915-01A-01W-0639-09 TCGA-61-1915-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d0d915b-e84b-437a-88ad-c5b913bd54fe 940e219f-21f2-4ef6-bc8e-f0c382d0a6c2 20 48193484 48193484 G A SNP TMEM189-UBE2V1 NM_199203 human genbank 54_36p -1 reviewed missense c.203 p.A68V 1.000 NULL HMMPfam_Kua-UEV1_localn,superfamily_UBC-like,HMMSmart_SM00212,HMMPfam_UQ_con - no_errors SPPL2A 84888 genome.wustl.edu 36 15 48819318 48819318 + Splice_Site SNP C C T novel unknown TCGA-61-1915-01A-01W-0639-09 TCGA-61-1915-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d0d915b-e84b-437a-88ad-c5b913bd54fe 940e219f-21f2-4ef6-bc8e-f0c382d0a6c2 15 48819318 48819318 C T SNP SPPL2A NM_032802 human genbank 54_36p -1 reviewed splice_site c.585-1 e6-1 0.946 - - - no_errors BSN 8927 genome.wustl.edu 36 3 49666222 49666222 + Missense_Mutation SNP C C G novel unknown TCGA-61-1915-01A-01W-0639-09 TCGA-61-1915-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d0d915b-e84b-437a-88ad-c5b913bd54fe 940e219f-21f2-4ef6-bc8e-f0c382d0a6c2 3 49666222 49666222 C G SNP BSN NM_003458 human genbank 54_36p +1 validated missense c.4229 p.P1410R 0.008 NULL HMMPfam_zf-piccolo,superfamily_FYVE_PHD_ZnF - no_errors ITGA2 3673 genome.wustl.edu 36 5 52406020 52406020 + Missense_Mutation SNP G G C novel unknown TCGA-61-1915-01A-01W-0639-09 TCGA-61-1915-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d0d915b-e84b-437a-88ad-c5b913bd54fe 940e219f-21f2-4ef6-bc8e-f0c382d0a6c2 5 52406020 52406020 G C SNP ITGA2 NM_002203 human genbank 54_36p +1 reviewed missense c.2620 p.V874L 0.219 HMMPfam_Integrin_alpha2,superfamily_Integrin domains superfamily_Integrin alpha N-terminal domain,HMMSmart_SM00191,superfamily_vWA-like,HMMSmart_SM00327,HMMPfam_VWA,HMMPfam_FG-GAP,HMMPfam_Integrin_alpha2,superfamily_Integrin domains,PatternScan_INTEGRIN_ALPHA,HMMPfam_Integrin_alpha - no_errors NCKAP1L 3071 genome.wustl.edu 36 12 53180676 53180676 + Silent SNP G G T novel unknown TCGA-61-1915-01A-01W-0639-09 TCGA-61-1915-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d0d915b-e84b-437a-88ad-c5b913bd54fe 940e219f-21f2-4ef6-bc8e-f0c382d0a6c2 12 53180676 53180676 G T SNP NCKAP1L NM_005337 human genbank 54_36p +1 reviewed silent c.306 p.R102 1.000 HMMPfam_Nckap1 HMMPfam_Nckap1 - no_errors DHX29 54505 genome.wustl.edu 36 5 54614992 54614992 + Missense_Mutation SNP C C G novel unknown TCGA-61-1915-01A-01W-0639-09 TCGA-61-1915-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d0d915b-e84b-437a-88ad-c5b913bd54fe 940e219f-21f2-4ef6-bc8e-f0c382d0a6c2 5 54614992 54614992 C G SNP DHX29 NM_019030 human genbank 54_36p -1 validated missense c.1761 p.R587S 1.000 superfamily_SSF52540,HMMSmart_DEXDc,HMMPfam_DEAD superfamily_SSF52540,HMMSmart_DEXDc,HMMPfam_DEAD,PatternScan_DEAH_ATP_HELICASE,HMMSmart_HELICc,HMMPfam_Helicase_C,HMMPfam_HA2,HMMPfam_DUF1605 - no_errors BBS2 583 genome.wustl.edu 36 16 55088382 55088382 + Silent SNP G G A novel unknown TCGA-61-1915-01A-01W-0639-09 TCGA-61-1915-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d0d915b-e84b-437a-88ad-c5b913bd54fe 940e219f-21f2-4ef6-bc8e-f0c382d0a6c2 16 55088382 55088382 G A SNP BBS2 NM_031885 human genbank 54_36p -1 reviewed silent c.1908 p.D636 1.000 NULL superfamily_WD40 repeat-like,HMMPfam_FG-GAP - no_errors IL31RA 133396 genome.wustl.edu 36 5 55240210 55240210 + Missense_Mutation SNP G G C novel unknown TCGA-61-1915-01A-01W-0639-09 TCGA-61-1915-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d0d915b-e84b-437a-88ad-c5b913bd54fe 940e219f-21f2-4ef6-bc8e-f0c382d0a6c2 5 55240210 55240210 G C SNP IL31RA ENST00000396836 human ensembl 54_36p +1 known missense c.1715 p.R572T 0.004 NULL HMMSmart_FN3,superfamily_FN_III-like,HMMPfam_fn3 - no_errors EFEMP1 2202 genome.wustl.edu 36 2 55998861 55998861 + Nonsense_Mutation SNP T T A novel unknown TCGA-61-1915-01A-01W-0639-09 TCGA-61-1915-11A-01W-0640-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d0d915b-e84b-437a-88ad-c5b913bd54fe 940e219f-21f2-4ef6-bc8e-f0c382d0a6c2 2 55998861 55998861 T A SNP EFEMP1 NM_001039348 human genbank 54_36p -1 reviewed nonsense c.127 p.K43* 1.000 superfamily_EGF/Laminin superfamily_EGF/Laminin,PatternScan_EGF_CA,HMMPfam_EGF_CA,HMMSmart_SM00179,HMMSmart_SM00181,PatternScan_ASX_HYDROXYL,PatternScan_EGF_2 - no_errors CNGB1 1258 genome.wustl.edu 36 16 56479296 56479296 + Silent SNP C C T novel unknown TCGA-61-1915-01A-01W-0639-09 TCGA-61-1915-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d0d915b-e84b-437a-88ad-c5b913bd54fe 940e219f-21f2-4ef6-bc8e-f0c382d0a6c2 16 56479296 56479296 C T SNP CNGB1 NM_001297 human genbank 54_36p -1 validated silent c.3426 p.L1142 0.871 NULL 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 TNFRSF11A 8792 genome.wustl.edu 36 18 58176524 58176524 + Missense_Mutation SNP C C T novel unknown TCGA-61-1915-01A-01W-0639-09 TCGA-61-1915-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d0d915b-e84b-437a-88ad-c5b913bd54fe 940e219f-21f2-4ef6-bc8e-f0c382d0a6c2 18 58176524 58176524 C T SNP TNFRSF11A NM_003839 human genbank 54_36p +1 reviewed missense c.491 p.S164F 0.088 superfamily_SSF57586,HMMSmart_TNFR superfamily_SSF57586,HMMPfam_TNFR_c6,HMMSmart_TNFR,PatternScan_TNFR_NGFR_1 - no_errors INTS5 80789 genome.wustl.edu 36 11 62171305 62171305 + Silent SNP C C G novel unknown TCGA-61-1915-01A-01W-0639-09 TCGA-61-1915-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d0d915b-e84b-437a-88ad-c5b913bd54fe 940e219f-21f2-4ef6-bc8e-f0c382d0a6c2 11 62171305 62171305 C G SNP INTS5 NM_030628 human genbank 54_36p -1 provisional silent c.2823 p.L941 1.000 NULL NULL - no_errors STX5 6811 genome.wustl.edu 36 11 62349135 62349135 + Nonsense_Mutation SNP G G A novel unknown TCGA-61-1915-01A-01W-0639-09 TCGA-61-1915-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d0d915b-e84b-437a-88ad-c5b913bd54fe 940e219f-21f2-4ef6-bc8e-f0c382d0a6c2 11 62349135 62349135 G A SNP STX5 NM_003164 human genbank 54_36p -1 validated nonsense c.628 p.Q210* 1.000 superfamily_t-snare proteins superfamily_t-snare proteins,HMMPfam_Syntaxin,HMMSmart_SM00397,HMMPfam_SNARE,PatternScan_SYNTAXIN - no_errors MALAT1 378938 genome.wustl.edu 36 11 65026231 65026231 + RNA SNP C C G novel unknown TCGA-61-1915-01A-01W-0639-09 TCGA-61-1915-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d0d915b-e84b-437a-88ad-c5b913bd54fe 940e219f-21f2-4ef6-bc8e-f0c382d0a6c2 11 65026231 65026231 C G SNP MALAT1 NR_002819 human genbank 54_36p +1 provisional rna NULL NULL 0.008 - - - no_errors LTBP3 4054 genome.wustl.edu 36 11 65067575 65067575 + Missense_Mutation SNP C C G novel unknown TCGA-61-1915-01A-01W-0639-09 TCGA-61-1915-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d0d915b-e84b-437a-88ad-c5b913bd54fe 940e219f-21f2-4ef6-bc8e-f0c382d0a6c2 11 65067575 65067575 C G SNP LTBP3 NM_021070 human genbank 54_36p -1 validated missense c.2375 p.G792A 0.006 PatternScan_EGF_CA,HMMPfam_EGF_CA,HMMSmart_EGF_CA,superfamily_SSF57196 superfamily_SSF57196,HMMSmart_EGF,HMMPfam_EGF,PatternScan_EGF_1,superfamily_Fibril-assoc,HMMPfam_TB,PatternScan_EGF_CA,HMMPfam_EGF_CA,HMMSmart_EGF_CA,PatternScan_ASX_HYDROXYL,PatternScan_EGF_2 - no_errors RLTPR 146206 genome.wustl.edu 36 16 66238116 66238116 + Splice_Site SNP A A T novel unknown TCGA-61-1915-01A-01W-0639-09 TCGA-61-1915-11A-01W-0640-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d0d915b-e84b-437a-88ad-c5b913bd54fe 940e219f-21f2-4ef6-bc8e-f0c382d0a6c2 16 66238116 66238116 A T SNP RLTPR NM_001013838 human genbank 54_36p +1 provisional splice_site c.467-2 e7-2 0.998 - - - no_errors FBXL11 22992 genome.wustl.edu 36 11 66778366 66778366 + Missense_Mutation SNP G G A novel unknown TCGA-61-1915-01A-01W-0639-09 TCGA-61-1915-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d0d915b-e84b-437a-88ad-c5b913bd54fe 940e219f-21f2-4ef6-bc8e-f0c382d0a6c2 11 66778366 66778366 G A SNP FBXL11 NM_012308 human genbank 54_36p +1 reviewed missense c.3208 p.D1070N 1.000 superfamily_RNI-like,HMMSmart_SM00367 superfamily_Clavaminate synthase-like,HMMSmart_SM00558,HMMPfam_JmjC,HMMPfam_zf-CXXC,PatternScan_2FE2S_FER_1,HMMSmart_SM00249,PatternScan_ZF_PHD_1,HMMPfam_F-box,superfamily_RNI-like,HMMSmart_SM00367 - no_errors CTNNA3 29119 genome.wustl.edu 36 10 68051521 68051521 + Missense_Mutation SNP T T C novel unknown TCGA-61-1915-01A-01W-0639-09 TCGA-61-1915-11A-01W-0640-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d0d915b-e84b-437a-88ad-c5b913bd54fe 940e219f-21f2-4ef6-bc8e-f0c382d0a6c2 10 68051521 68051521 T C SNP CTNNA3 NM_013266 human genbank 54_36p -1 validated missense c.1309 p.T437A 0.995 HMMPfam_Vinculin,superfamily_alpha-catenin/vinculin HMMPfam_Vinculin,superfamily_alpha-catenin/vinculin - no_errors ENSG00000205152 0 genome.wustl.edu 36 16 68818176 68818176 + Silent SNP T T A novel unknown TCGA-61-1915-01A-01W-0639-09 TCGA-61-1915-11A-01W-0640-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d0d915b-e84b-437a-88ad-c5b913bd54fe 940e219f-21f2-4ef6-bc8e-f0c382d0a6c2 16 68818176 68818176 T A SNP ENSG00000205152 ENST00000378955 human ensembl 54_36p -1 known silent c.1800 p.I600 1.000 NULL NULL - no_errors CALB2 794 genome.wustl.edu 36 16 69963635 69963635 + Splice_Site SNP T T A novel unknown TCGA-61-1915-01A-01W-0639-09 TCGA-61-1915-11A-01W-0640-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d0d915b-e84b-437a-88ad-c5b913bd54fe 940e219f-21f2-4ef6-bc8e-f0c382d0a6c2 16 69963635 69963635 T A SNP CALB2 NM_001740 human genbank 54_36p +1 reviewed splice_site c.171+2 e2+2 1.000 - - - no_errors LOC643159 643159 genome.wustl.edu 36 17 71733826 71733826 + Missense_Mutation SNP A A T novel unknown TCGA-61-1915-01A-01W-0639-09 TCGA-61-1915-11A-01W-0640-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d0d915b-e84b-437a-88ad-c5b913bd54fe 940e219f-21f2-4ef6-bc8e-f0c382d0a6c2 17 71733826 71733826 A T SNP LOC643159 XM_928637 human genbank 54_36p -1 model missense c.657 p.S219R 1.000 NULL HMMPfam_bZIP_1,HMMSmart_SM00338,PatternScan_BZIP_BASIC - pseudogene RCN2 5955 genome.wustl.edu 36 15 75026866 75026866 + Missense_Mutation SNP G G A novel unknown TCGA-61-1915-01A-01W-0639-09 TCGA-61-1915-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d0d915b-e84b-437a-88ad-c5b913bd54fe 940e219f-21f2-4ef6-bc8e-f0c382d0a6c2 15 75026866 75026866 G A SNP RCN2 NM_002902 human genbank 54_36p +1 reviewed missense c.611 p.G204E 1.000 superfamily_EF-hand,HMMPfam_efhand,HMMSmart_SM00054,PatternScan_EF_HAND_1 HMMSmart_SM00054,HMMPfam_efhand,PatternScan_EF_HAND_1,superfamily_EF-hand - no_errors CYSLTR1 10800 genome.wustl.edu 36 X 77414976 77414976 + Silent SNP T T C novel unknown TCGA-61-1915-01A-01W-0639-09 TCGA-61-1915-11A-01W-0640-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d0d915b-e84b-437a-88ad-c5b913bd54fe 940e219f-21f2-4ef6-bc8e-f0c382d0a6c2 X 77414976 77414976 T C SNP CYSLTR1 NM_006639 human genbank 54_36p -1 reviewed silent c.924 p.T308 1.000 superfamily_Family A G protein-coupled receptor-like superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1 - no_errors SATL1 340562 genome.wustl.edu 36 X 84249181 84249181 + Missense_Mutation SNP G G A novel unknown TCGA-61-1915-01A-01W-0639-09 TCGA-61-1915-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d0d915b-e84b-437a-88ad-c5b913bd54fe 940e219f-21f2-4ef6-bc8e-f0c382d0a6c2 X 84249181 84249181 G A SNP SATL1 NM_001012980 human genbank 54_36p -1 provisional missense c.889 p.P297S 0.001 NULL superfamily_Acyl_CoA_acyltransferase - no_errors LRIT2 340745 genome.wustl.edu 36 10 85971746 85971746 + Silent SNP A A G novel unknown TCGA-61-1915-01A-01W-0639-09 TCGA-61-1915-11A-01W-0640-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d0d915b-e84b-437a-88ad-c5b913bd54fe 940e219f-21f2-4ef6-bc8e-f0c382d0a6c2 10 85971746 85971746 A G SNP LRIT2 NM_001017924 human genbank 54_36p -1 validated silent c.1563 p.F521 0.189 NULL HMMPfam_LRRNT,superfamily_SSF52058,HMMPfam_LRR_1,HMMSmart_LRR_TYP,HMMSmart_LRRCT,superfamily_SSF48726,HMMPfam_I-set,HMMSmart_IGc2 - no_errors ATP6V0D2 245972 genome.wustl.edu 36 8 87180338 87180338 + Silent SNP G G A novel unknown TCGA-61-1915-01A-01W-0639-09 TCGA-61-1915-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d0d915b-e84b-437a-88ad-c5b913bd54fe 940e219f-21f2-4ef6-bc8e-f0c382d0a6c2 8 87180338 87180338 G A SNP ATP6V0D2 NM_152565 human genbank 54_36p +1 validated silent c.15 p.A5 0.590 NULL superfamily_ATPase_V0/A0_c/d,HMMPfam_vATP-synt_AC39 - no_errors VWA3B 200403 genome.wustl.edu 36 2 98076030 98076030 + Missense_Mutation SNP C C G novel unknown TCGA-61-1915-01A-01W-0639-09 TCGA-61-1915-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d0d915b-e84b-437a-88ad-c5b913bd54fe 940e219f-21f2-4ef6-bc8e-f0c382d0a6c2 2 98076030 98076030 C G SNP VWA3B NM_144992 human genbank 54_36p +1 provisional missense c.43 p.L15V 0.018 NULL HMMSmart_SM00327,superfamily_vWA-like,HMMPfam_VWA - no_errors ENSG00000187900 0 genome.wustl.edu 36 3 99440060 99440060 + Missense_Mutation SNP A A G novel unknown TCGA-61-1915-01A-01W-0639-09 TCGA-61-1915-11A-01W-0640-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d0d915b-e84b-437a-88ad-c5b913bd54fe 940e219f-21f2-4ef6-bc8e-f0c382d0a6c2 3 99440060 99440060 A G SNP ENSG00000187900 ENST00000341450 human ensembl 54_36p +1 known missense c.58 p.M20V 1.000 superfamily_SSF81321,HMMPfam_7tm_1 superfamily_SSF81321,HMMPfam_7tm_1 - no_errors RAB40AL 0 genome.wustl.edu 36 X 102078935 102078935 + Silent SNP C C T novel unknown TCGA-61-1915-01A-01W-0639-09 TCGA-61-1915-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d0d915b-e84b-437a-88ad-c5b913bd54fe 940e219f-21f2-4ef6-bc8e-f0c382d0a6c2 X 102078935 102078935 C T SNP RAB40AL NM_001031834 human genbank 54_36p +1 provisional silent c.33 p.Y11 1.000 superfamily_SSF52540 superfamily_SSF52540,HMMSmart_RAB,HMMPfam_Ras,HMMSmart_SOCS,HMMPfam_SOCS_box - no_errors MMP13 4322 genome.wustl.edu 36 11 102323888 102323888 + Missense_Mutation SNP C C A novel unknown TCGA-61-1915-01A-01W-0639-09 TCGA-61-1915-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d0d915b-e84b-437a-88ad-c5b913bd54fe 940e219f-21f2-4ef6-bc8e-f0c382d0a6c2 11 102323888 102323888 C A SNP MMP13 NM_002427 human genbank 54_36p -1 reviewed missense c.1153 p.A385S 1.000 superfamily_Hemopexin,HMMPfam_Hemopexin,HMMSmart_HX HMMPfam_PG_binding_1,superfamily_PGBD_like,PatternScan_CYSTEINE_SWITCH,HMMSmart_ZnMc,superfamily_SSF55486,HMMPfam_Peptidase_M10,PatternScan_ZINC_PROTEASE,superfamily_Hemopexin,HMMPfam_Hemopexin,HMMSmart_HX,PatternScan_HEMOPEXIN - no_errors ARL3 403 genome.wustl.edu 36 10 104455180 104455180 + Silent SNP T T G novel unknown TCGA-61-1915-01A-01W-0639-09 TCGA-61-1915-11A-01W-0640-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d0d915b-e84b-437a-88ad-c5b913bd54fe 940e219f-21f2-4ef6-bc8e-f0c382d0a6c2 10 104455180 104455180 T G SNP ARL3 NM_004311 human genbank 54_36p -1 reviewed silent c.60 p.I20 0.996 HMMSmart_ARF,superfamily_SSF52540,HMMPfam_Arf HMMSmart_ARF,superfamily_SSF52540,HMMPfam_Arf,PatternScan_ARF - no_errors FRMPD3 84443 genome.wustl.edu 36 X 106730450 106730450 + Missense_Mutation SNP T T C novel unknown TCGA-61-1915-01A-01W-0639-09 TCGA-61-1915-11A-01W-0640-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d0d915b-e84b-437a-88ad-c5b913bd54fe 940e219f-21f2-4ef6-bc8e-f0c382d0a6c2 X 106730450 106730450 T C SNP FRMPD3 XM_042978 human genbank 54_36p +1 model missense c.2624 p.L875P 0.000 NULL PatternScan_FERM_1,PatternScan_FERM_2,superfamily_PDZ,HMMPfam_PDZ,HMMSmart_PDZ,HMMSmart_B41,superfamily_FERM_3-hlx,HMMPfam_FERM_M - no_errors MCC 4163 genome.wustl.edu 36 5 112465350 112465350 + Missense_Mutation SNP G G T novel unknown TCGA-61-1915-01A-01W-0639-09 TCGA-61-1915-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d0d915b-e84b-437a-88ad-c5b913bd54fe 940e219f-21f2-4ef6-bc8e-f0c382d0a6c2 5 112465350 112465350 G T SNP MCC NM_001085377 human genbank 54_36p -1 reviewed missense c.1383 p.D461E 1.000 HMMPfam_MCC-bdg_PDZ superfamily_EF-hand,HMMSmart_SM00054,HMMPfam_efhand,PatternScan_EF_HAND_1,HMMPfam_MCC-bdg_PDZ - no_errors ZNF618 114991 genome.wustl.edu 36 9 115818249 115818249 + Missense_Mutation SNP G G C novel unknown TCGA-61-1915-01A-01W-0639-09 TCGA-61-1915-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d0d915b-e84b-437a-88ad-c5b913bd54fe 940e219f-21f2-4ef6-bc8e-f0c382d0a6c2 9 115818249 115818249 G C SNP ZNF618 NM_133374 human genbank 54_36p +1 validated missense c.694 p.E232Q 1.000 NULL HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_SSF57667,HMMPfam_hATC - no_errors TLR4 7099 genome.wustl.edu 36 9 119516582 119516582 + Silent SNP G G C novel unknown TCGA-61-1915-01A-01W-0639-09 TCGA-61-1915-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d0d915b-e84b-437a-88ad-c5b913bd54fe 940e219f-21f2-4ef6-bc8e-f0c382d0a6c2 9 119516582 119516582 G C SNP TLR4 NM_138554 human genbank 54_36p +1 reviewed silent c.2355 p.L785 0.987 superfamily_Toll/Interleukin receptor TIR domain,HMMSmart_SM00255,HMMPfam_TIR superfamily_L domain-like,HMMSmart_SM00369,HMMPfam_LRR_1,HMMSmart_SM00365,HMMSmart_SM00082,HMMPfam_LRRCT,superfamily_Toll/Interleukin receptor TIR domain,HMMSmart_SM00255,HMMPfam_TIR - no_errors IQUB 154865 genome.wustl.edu 36 7 122892187 122892187 + Missense_Mutation SNP G G A novel unknown TCGA-61-1915-01A-01W-0639-09 TCGA-61-1915-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d0d915b-e84b-437a-88ad-c5b913bd54fe 940e219f-21f2-4ef6-bc8e-f0c382d0a6c2 7 122892187 122892187 G A SNP IQUB NM_178827 human genbank 54_36p -1 validated missense c.1694 p.A565V 0.967 NULL HMMPfam_DUF2021,superfamily_Ubiquitin-like - no_errors GPR37 2861 genome.wustl.edu 36 7 124174579 124174579 + Missense_Mutation SNP A A T novel unknown TCGA-61-1915-01A-01W-0639-09 TCGA-61-1915-11A-01W-0640-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d0d915b-e84b-437a-88ad-c5b913bd54fe 940e219f-21f2-4ef6-bc8e-f0c382d0a6c2 7 124174579 124174579 A T SNP GPR37 NM_005302 human genbank 54_36p -1 provisional missense c.1078 p.F360I 1.000 superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1 superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1 - no_errors ACTRT1 139741 genome.wustl.edu 36 X 127013011 127013011 + Missense_Mutation SNP A A C novel unknown TCGA-61-1915-01A-01W-0639-09 TCGA-61-1915-11A-01W-0640-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d0d915b-e84b-437a-88ad-c5b913bd54fe 940e219f-21f2-4ef6-bc8e-f0c382d0a6c2 X 127013011 127013011 A C SNP ACTRT1 NM_138289 human genbank 54_36p -1 provisional missense c.856 p.C286G 1.000 HMMPfam_Actin,HMMSmart_ACTIN,superfamily_SSF53067 HMMPfam_Actin,superfamily_SSF53067,HMMSmart_ACTIN - no_errors SAP130 79595 genome.wustl.edu 36 2 128474172 128474172 + Missense_Mutation SNP C C T novel unknown TCGA-61-1915-01A-01W-0639-09 TCGA-61-1915-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d0d915b-e84b-437a-88ad-c5b913bd54fe 940e219f-21f2-4ef6-bc8e-f0c382d0a6c2 2 128474172 128474172 C T SNP SAP130 NM_024545 human genbank 54_36p -1 validated missense c.1114 p.G372S 1.000 NULL NULL - no_errors MEST 4232 genome.wustl.edu 36 7 129925525 129925525 + Missense_Mutation SNP C C G novel unknown TCGA-61-1915-01A-01W-0639-09 TCGA-61-1915-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d0d915b-e84b-437a-88ad-c5b913bd54fe 940e219f-21f2-4ef6-bc8e-f0c382d0a6c2 7 129925525 129925525 C G SNP MEST NM_002402 human genbank 54_36p +1 reviewed missense c.506 p.T169S 0.968 superfamily_alpha/beta-Hydrolases,HMMPfam_Abhydrolase_1 superfamily_alpha/beta-Hydrolases,HMMPfam_Abhydrolase_1 - no_errors CREB3L2 64764 genome.wustl.edu 36 7 137251169 137251169 + Missense_Mutation SNP G G A novel unknown TCGA-61-1915-01A-01W-0639-09 TCGA-61-1915-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d0d915b-e84b-437a-88ad-c5b913bd54fe 940e219f-21f2-4ef6-bc8e-f0c382d0a6c2 7 137251169 137251169 G A SNP CREB3L2 NM_194071 human genbank 54_36p -1 validated missense c.449 p.S150F 0.792 NULL superfamily_A DNA-binding domain in eukaryotic transcription factors,HMMPfam_bZIP_1,HMMSmart_SM00338,PatternScan_BZIP_BASIC - no_errors RBM27 54439 genome.wustl.edu 36 5 145597157 145597157 + Silent SNP A A G novel unknown TCGA-61-1915-01A-01W-0639-09 TCGA-61-1915-11A-01W-0640-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d0d915b-e84b-437a-88ad-c5b913bd54fe 940e219f-21f2-4ef6-bc8e-f0c382d0a6c2 5 145597157 145597157 A G SNP RBM27 ENST00000265271 human ensembl 54_36p +1 known silent c.1248 p.L416 1.000 NULL superfamily_SSF101233,HMMPfam_zf-CCCH,superfamily_SSF54928,HMMSmart_RRM - no_errors CHRNB2 1141 genome.wustl.edu 36 1 152811017 152811017 + Missense_Mutation SNP G G A novel unknown TCGA-61-1915-01A-01W-0639-09 TCGA-61-1915-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d0d915b-e84b-437a-88ad-c5b913bd54fe 940e219f-21f2-4ef6-bc8e-f0c382d0a6c2 1 152811017 152811017 G A SNP CHRNB2 NM_000748 human genbank 54_36p +1 reviewed missense c.1094 p.R365Q 0.707 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 SYT11 23208 genome.wustl.edu 36 1 154104548 154104548 + Missense_Mutation SNP C C A novel unknown TCGA-61-1915-01A-01W-0639-09 TCGA-61-1915-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d0d915b-e84b-437a-88ad-c5b913bd54fe 940e219f-21f2-4ef6-bc8e-f0c382d0a6c2 1 154104548 154104548 C A SNP SYT11 NM_152280 human genbank 54_36p +1 validated missense c.203 p.T68N 1.000 NULL superfamily_C2_CaLB,HMMSmart_C2,HMMPfam_C2 - no_errors PAXIP1 22976 genome.wustl.edu 36 7 154398932 154398932 + Missense_Mutation SNP C C T novel unknown TCGA-61-1915-01A-01W-0639-09 TCGA-61-1915-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d0d915b-e84b-437a-88ad-c5b913bd54fe 940e219f-21f2-4ef6-bc8e-f0c382d0a6c2 7 154398932 154398932 C T SNP PAXIP1 NM_007349 human genbank 54_36p -1 reviewed missense c.481 p.V161M 1.000 HMMPfam_BRCT,superfamily_BRCT domain,HMMSmart_SM00292 superfamily_BRCT domain,HMMPfam_BRCT,HMMSmart_SM00292 - no_errors SLC22A2 6582 genome.wustl.edu 36 6 160586542 160586542 + Missense_Mutation SNP C C G novel unknown TCGA-61-1915-01A-01W-0639-09 TCGA-61-1915-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d0d915b-e84b-437a-88ad-c5b913bd54fe 940e219f-21f2-4ef6-bc8e-f0c382d0a6c2 6 160586542 160586542 C G SNP SLC22A2 NM_003058 human genbank 54_36p -1 reviewed missense c.983 p.G328A 0.000 superfamily_MFS general substrate transporter,HMMPfam_Sugar_tr superfamily_MFS general substrate transporter,HMMPfam_Sugar_tr,PatternScan_SUGAR_TRANSPORT_1 - no_errors B3GALNT1 8706 genome.wustl.edu 36 3 162286966 162286966 + Missense_Mutation SNP C C T novel unknown TCGA-61-1915-01A-01W-0639-09 TCGA-61-1915-11A-01W-0640-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d0d915b-e84b-437a-88ad-c5b913bd54fe 940e219f-21f2-4ef6-bc8e-f0c382d0a6c2 3 162286966 162286966 C T SNP B3GALNT1 NM_001038628 human genbank 54_36p -1 reviewed missense c.271 p.V91M 0.983 NULL HMMPfam_Galactosyl_T - no_errors TTN 7273 genome.wustl.edu 36 2 179156780 179156780 + Missense_Mutation SNP T T G novel unknown TCGA-61-1915-01A-01W-0639-09 TCGA-61-1915-11A-01W-0640-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d0d915b-e84b-437a-88ad-c5b913bd54fe 940e219f-21f2-4ef6-bc8e-f0c382d0a6c2 2 179156780 179156780 T G SNP TTN ENST00000375038 human ensembl 54_36p -1 known missense c.53318 p.Y17773S 1.000 superfamily_Concanavalin A-like lectins/glucanases,superfamily_vWA-like,superfamily_WD40 repeat-like,superfamily_Positive stranded ssRNA viruses,superfamily_Fibronectin type III,HMMPfam_fn3,HMMSmart_SM00060 superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,superfamily_Concanavalin A-like lectins/glucanases,superfamily_vWA-like,superfamily_WD40 repeat-like,superfamily_Positive stranded ssRNA viruses,HMMPfam_Titin_Z,HMMSmart_SM00406,PatternScan_IG_MHC,HMMPfam_PPAK,HMMPfam_ig,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3,PatternScan_FGGY_KINASES_1,PatternScan_PEROXIDASE_1,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_TYR - no_errors ASNSD1 54529 genome.wustl.edu 36 2 190239299 190239299 + Nonsense_Mutation SNP G G T novel unknown TCGA-61-1915-01A-01W-0639-09 TCGA-61-1915-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d0d915b-e84b-437a-88ad-c5b913bd54fe 940e219f-21f2-4ef6-bc8e-f0c382d0a6c2 2 190239299 190239299 G T SNP ASNSD1 NM_019048 human genbank 54_36p +1 validated nonsense c.196 p.E66* 1.000 superfamily_N-terminal nucleophile aminohydrolases (Ntn hydrolases) superfamily_N-terminal nucleophile aminohydrolases (Ntn hydrolases),superfamily_Adenine nucleotide alpha hydrolases-like,HMMPfam_Asn_synthase - no_errors USH2A 7399 genome.wustl.edu 36 1 214486626 214486626 + Silent SNP G G T novel unknown TCGA-61-1915-01A-01W-0639-09 TCGA-61-1915-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d0d915b-e84b-437a-88ad-c5b913bd54fe 940e219f-21f2-4ef6-bc8e-f0c382d0a6c2 1 214486626 214486626 G T SNP USH2A NM_206933 human genbank 54_36p -1 reviewed silent c.2733 p.T911 0.001 superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_EGF,HMMSmart_SM00180,superfamily_EGF/Laminin superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00560,HMMSmart_SM00136,HMMPfam_Laminin_N,HMMPfam_Laminin_EGF,HMMSmart_SM00180,superfamily_EGF/Laminin,PatternScan_EGF_LAM_1,PatternScan_EGF_1,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3,HMMSmart_SM00282,HMMPfam_Laminin_G_2 - no_errors EXOC8 149371 genome.wustl.edu 36 1 229538492 229538492 + Silent SNP G G A novel unknown TCGA-61-1915-01A-01W-0639-09 TCGA-61-1915-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d0d915b-e84b-437a-88ad-c5b913bd54fe 940e219f-21f2-4ef6-bc8e-f0c382d0a6c2 1 229538492 229538492 G A SNP EXOC8 NM_175876 human genbank 54_36p -1 validated silent c.1623 p.F541 1.000 NULL HMMPfam_Vps51,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233 - no_errors RYR2 6262 genome.wustl.edu 36 1 235936871 235936871 + Splice_Site SNP G G A novel unknown TCGA-61-1915-01A-01W-0639-09 TCGA-61-1915-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d0d915b-e84b-437a-88ad-c5b913bd54fe 940e219f-21f2-4ef6-bc8e-f0c382d0a6c2 1 235936871 235936871 G A SNP RYR2 NM_001035 human genbank 54_36p +1 reviewed splice_site c.9581-1 e68-1 1.000 - - - no_errors MKL2 57496 genome.wustl.edu 36 16 14248349 14248350 + Frame_Shift_Del DEL AG AG - novel unknown TCGA-61-1915-01A-01W-0639-09 TCGA-61-1915-11A-01W-0640-09 AG AG Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d0d915b-e84b-437a-88ad-c5b913bd54fe 940e219f-21f2-4ef6-bc8e-f0c382d0a6c2 16 14248349 14248350 AG - DEL MKL2 NM_014048 human genbank 54_36p +1 validated frame_shift_del c.1731_1732 p.K579fs 0.980:1.000 NULL HMMSmart_RPEL,superfamily_SSF68906,HMMPfam_SAP,HMMSmart_SAP (deletion:cds_exon[14247831,14248715]) no_errors LOC642131 0 genome.wustl.edu 36 15 19974379 19974388 + Frame_Shift_Del DEL GACTCTTGAG GACTCTTGAG - novel unknown TCGA-61-1915-01A-01W-0639-09 TCGA-61-1915-11A-01W-0640-09 GACTCTTGAG GACTCTTGAG Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d0d915b-e84b-437a-88ad-c5b913bd54fe 940e219f-21f2-4ef6-bc8e-f0c382d0a6c2 15 19974379 19974388 GACTCTTGAG - DEL LOC642131 XM_001716834 human genbank 54_36p -1 model frame_shift_del c.277_268 p.L90fs 0.066:0.002:0.001:0.002:0.034:0.115:0.111:0.126:0.181:0.163 HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00406 HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00406 (deletion:cds_exon[19974025,19974588]) no_errors TBC1D22B 55633 genome.wustl.edu 36 6 37355143 37355143 + Frame_Shift_Del DEL A A - novel unknown TCGA-61-1915-01A-01W-0639-09 TCGA-61-1915-11A-01W-0640-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d0d915b-e84b-437a-88ad-c5b913bd54fe 940e219f-21f2-4ef6-bc8e-f0c382d0a6c2 6 37355143 37355143 A - DEL TBC1D22B NM_017772 human genbank 54_36p +1 validated frame_shift_del c.199 p.S67fs 1.000 NULL superfamily_Ypt/Rab-GAP domain of gyp1p,HMMPfam_TBC,HMMSmart_SM00164 (deletion:cds_exon[37355058,37355365]) no_errors COL9A2 1298 genome.wustl.edu 36 1 40541070 40541071 + Splice_Site INS - - GGAG novel unknown TCGA-61-1915-01A-01W-0639-09 TCGA-61-1915-11A-01W-0640-09 - - Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d0d915b-e84b-437a-88ad-c5b913bd54fe 940e219f-21f2-4ef6-bc8e-f0c382d0a6c2 1 40541070 40541071 - GGAG INS COL9A2 NM_001852 human genbank 54_36p -1 reviewed splice_site_ins c.1604-3_1604-2 e30-2 1.000:0.994 - - - no_errors FSCN3 29999 genome.wustl.edu 36 7 127025752 127025752 + Frame_Shift_Del DEL G G - novel unknown TCGA-61-1915-01A-01W-0639-09 TCGA-61-1915-11A-01W-0640-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d0d915b-e84b-437a-88ad-c5b913bd54fe 940e219f-21f2-4ef6-bc8e-f0c382d0a6c2 7 127025752 127025752 G - DEL FSCN3 NM_020369 human genbank 54_36p +1 provisional frame_shift_del c.988 p.H331fs 0.303 superfamily_Actin_crosslink,HMMPfam_Fascin superfamily_Actin_crosslink,HMMPfam_Fascin (deletion:cds_exon[127025725,127025884]) no_errors ZNF687 57592 genome.wustl.edu 36 1 149526104 149526115 + In_Frame_Del DEL GCTCAGGCTCCA GCTCAGGCTCCA - novel unknown TCGA-61-1915-01A-01W-0639-09 TCGA-61-1915-11A-01W-0640-09 GCTCAGGCTCCA GCTCAGGCTCCA Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 8d0d915b-e84b-437a-88ad-c5b913bd54fe 940e219f-21f2-4ef6-bc8e-f0c382d0a6c2 1 149526104 149526115 GCTCAGGCTCCA - DEL ZNF687 NM_020832 human genbank 54_36p +1 provisional in_frame_del c.713_724 p.SGSS239in_frame_del 0.000:0.000:0.001:0.003:0.001:0.007:0.012:0.011:0.006:0.003:0.001:0.002 NULL superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-C2H2 (deletion:cds_exon[149525392,149527506]) no_errors