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-ND2 0 genome.wustl.edu 36 MT 4721 4721 + Nonsense_Mutation SNP G G A novel unknown TCGA-04-1369-01A-02D-1526-09 TCGA-04-1369-11A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7a657ef6-0ff3-40cb-b02b-a1a79ef899f6 e1d50578-4839-4490-ab36-f0d82fec4eec MT 4721 4721 G A SNP MT-ND2 ENST00000361453 human ensembl 54_36p +1 known nonsense c.251 p.W84* NULL HMMPfam_Oxidored_q1 HMMPfam_Oxidored_q1,HMMPfam_NADH_dehy_S2_C - no_stop_codon:bad_bp_length_for_coding_region MT-ND5 4540 genome.wustl.edu 36 MT 12765 12765 + Missense_Mutation SNP G G A novel unknown TCGA-04-1369-01A-02D-1526-09 TCGA-04-1369-11A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7a657ef6-0ff3-40cb-b02b-a1a79ef899f6 e1d50578-4839-4490-ab36-f0d82fec4eec MT 12765 12765 G A SNP MT-ND5 ENST00000361567 human ensembl 54_36p +1 known missense c.428 p.G143D NULL HMMPfam_Oxidored_q1 HMMPfam_Oxidored_q1_N,HMMPfam_Oxidored_q1,HMMPfam_NADH5_C - no_errors DMRT1 1761 genome.wustl.edu 36 9 906902 906902 + Missense_Mutation SNP C C A novel unknown TCGA-04-1369-01A-02D-1526-09 TCGA-04-1369-11A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7a657ef6-0ff3-40cb-b02b-a1a79ef899f6 e1d50578-4839-4490-ab36-f0d82fec4eec 9 906902 906902 C A SNP DMRT1 NM_021951 human genbank 54_36p +1 reviewed missense c.962 p.A321E 0.895 NULL superfamily_Cysteine-rich DNA binding domain (DM domain),HMMPfam_DM,HMMSmart_SM00301,PatternScan_DM_1 - no_errors MUC6 4588 genome.wustl.edu 36 11 1006890 1006890 + Missense_Mutation SNP G G A novel unknown TCGA-04-1369-01A-02D-1526-09 TCGA-04-1369-11A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7a657ef6-0ff3-40cb-b02b-a1a79ef899f6 e1d50578-4839-4490-ab36-f0d82fec4eec 11 1006890 1006890 G A SNP MUC6 NM_005961 human genbank 54_36p -1 validated missense c.5911 p.P1971S 0.000 NULL HMMSmart_SM00216,HMMPfam_VWD,HMMPfam_C8,superfamily_Serine proterase inhibitors,HMMPfam_TIL,HMMSmart_SM00215,HMMSmart_SM00041 - no_errors CLSTN3 9746 genome.wustl.edu 36 12 7192904 7192904 + Silent SNP C C T novel unknown TCGA-04-1369-01A-02D-1526-09 TCGA-04-1369-11A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7a657ef6-0ff3-40cb-b02b-a1a79ef899f6 e1d50578-4839-4490-ab36-f0d82fec4eec 12 7192904 7192904 C T SNP CLSTN3 NM_014718 human genbank 54_36p +1 validated silent c.1917 p.D639 0.757 NULL PatternScan_CADHERIN_1,superfamily_Cadherin,HMMPfam_Cadherin,HMMSmart_CA,superfamily_ConA_like_lec_gl - no_errors TP53 7157 genome.wustl.edu 36 17 7517824 7517824 + Missense_Mutation SNP C A A novel unknown TCGA-04-1369-01A-02D-1526-09 TCGA-04-1369-11A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7a657ef6-0ff3-40cb-b02b-a1a79ef899f6 e1d50578-4839-4490-ab36-f0d82fec4eec 17 7517824 7517824 C A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.839 p.R280I 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 OR10A3 26496 genome.wustl.edu 36 11 7917602 7917602 + Silent SNP G G A novel unknown TCGA-04-1369-01A-02D-1526-09 TCGA-04-1369-11A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7a657ef6-0ff3-40cb-b02b-a1a79ef899f6 e1d50578-4839-4490-ab36-f0d82fec4eec 11 7917602 7917602 G A SNP OR10A3 NM_001003745 human genbank 54_36p -1 provisional silent c.42 p.L14 0.671 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 TCEB1P3 644540 genome.wustl.edu 36 10 10256491 10256491 + Missense_Mutation SNP A A G novel unknown TCGA-04-1369-01A-02D-1526-09 TCGA-04-1369-11A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7a657ef6-0ff3-40cb-b02b-a1a79ef899f6 e1d50578-4839-4490-ab36-f0d82fec4eec 10 10256491 10256491 A G SNP TCEB1P3 XM_927664 human genbank 54_36p +1 model missense c.293 p.E98G 1.000 HMMSmart_SM00512,superfamily_POZ domain HMMSmart_SM00512,HMMPfam_Skp1_POZ,superfamily_POZ domain - pseudogene ICAM3 3385 genome.wustl.edu 36 19 10306863 10306863 + Missense_Mutation SNP G G T novel unknown TCGA-04-1369-01A-02D-1526-09 TCGA-04-1369-11A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7a657ef6-0ff3-40cb-b02b-a1a79ef899f6 e1d50578-4839-4490-ab36-f0d82fec4eec 19 10306863 10306863 G T SNP ICAM3 NM_002162 human genbank 54_36p -1 reviewed missense c.816 p.D272E 0.135 superfamily_SSF48726 HMMPfam_ICAM_N,superfamily_SSF48726,HMMSmart_IG,HMMPfam_ig - no_errors MYH2 4620 genome.wustl.edu 36 17 10384719 10384719 + Missense_Mutation SNP T T G novel unknown TCGA-04-1369-01A-02D-1526-09 TCGA-04-1369-11A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7a657ef6-0ff3-40cb-b02b-a1a79ef899f6 e1d50578-4839-4490-ab36-f0d82fec4eec 17 10384719 10384719 T G SNP MYH2 NM_001100112 human genbank 54_36p -1 validated missense c.925 p.N309H 1.000 superfamily_SSF52540,HMMSmart_MYSc,HMMPfam_Myosin_head HMMPfam_Myosin_N,superfamily_SSF52540,HMMSmart_MYSc,HMMPfam_Myosin_head,HMMSmart_IQ,HMMPfam_IQ,HMMPfam_Myosin_tail_1 - no_errors LRP6 4040 genome.wustl.edu 36 12 12203208 12203208 + Silent SNP G G T novel unknown TCGA-04-1369-01A-02D-1526-09 TCGA-04-1369-11A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7a657ef6-0ff3-40cb-b02b-a1a79ef899f6 e1d50578-4839-4490-ab36-f0d82fec4eec 12 12203208 12203208 G T SNP LRP6 NM_002336 human genbank 54_36p -1 validated silent c.2613 p.G871 1.000 superfamily_YWTD domain,HMMPfam_Ldl_recept_b superfamily_YWTD domain,HMMSmart_SM00135,HMMPfam_Ldl_recept_b,superfamily_EGF/Laminin,HMMSmart_SM00181,HMMPfam_EGF,PatternScan_EGF_2,superfamily_LDL receptor-like module,HMMPfam_Ldl_recept_a,HMMSmart_SM00192,PatternScan_LDLRA_1 - no_errors CTPS2 56474 genome.wustl.edu 36 X 16611234 16611234 + Silent SNP C C G novel unknown TCGA-04-1369-01A-02D-1526-09 TCGA-04-1369-11A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7a657ef6-0ff3-40cb-b02b-a1a79ef899f6 e1d50578-4839-4490-ab36-f0d82fec4eec X 16611234 16611234 C G SNP CTPS2 NM_019857 human genbank 54_36p -1 reviewed silent c.909 p.L303 1.000 superfamily_Class I glutamine amidotransferase-like superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_CTP_synth_N,superfamily_Class I glutamine amidotransferase-like,HMMPfam_GATase - no_errors SLC47A1 55244 genome.wustl.edu 36 17 19392004 19392004 + Silent SNP C C T novel unknown TCGA-04-1369-01A-02D-1526-09 TCGA-04-1369-11A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7a657ef6-0ff3-40cb-b02b-a1a79ef899f6 e1d50578-4839-4490-ab36-f0d82fec4eec 17 19392004 19392004 C T SNP SLC47A1 NM_018242 human genbank 54_36p +1 validated silent c.421 p.L141 1.000 HMMPfam_MatE HMMPfam_MatE - no_errors SLCO1C1 53919 genome.wustl.edu 36 12 20777260 20777260 + Missense_Mutation SNP G G C novel unknown TCGA-04-1369-01A-02D-1526-09 TCGA-04-1369-11A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7a657ef6-0ff3-40cb-b02b-a1a79ef899f6 e1d50578-4839-4490-ab36-f0d82fec4eec 12 20777260 20777260 G C SNP SLCO1C1 NM_017435 human genbank 54_36p +1 reviewed missense c.1337 p.G446A 1.000 superfamily_MFS_gen_substrate_transporter,HMMPfam_OATP superfamily_MFS_gen_substrate_transporter,HMMPfam_OATP,superfamily_SSF100895,HMMSmart_KAZAL,HMMPfam_Kazal_2 - no_errors RCAN3 11123 genome.wustl.edu 36 1 24713609 24713609 + Missense_Mutation SNP G G A novel unknown TCGA-04-1369-01A-02D-1526-09 TCGA-04-1369-11A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7a657ef6-0ff3-40cb-b02b-a1a79ef899f6 e1d50578-4839-4490-ab36-f0d82fec4eec 1 24713609 24713609 G A SNP RCAN3 NM_013441 human genbank 54_36p +1 validated missense c.160 p.V54I 1.000 NULL HMMPfam_Calcipressin - no_errors IFLTD1 160492 genome.wustl.edu 36 12 25564252 25564252 + Missense_Mutation SNP G G T novel unknown TCGA-04-1369-01A-02D-1526-09 TCGA-04-1369-11A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7a657ef6-0ff3-40cb-b02b-a1a79ef899f6 e1d50578-4839-4490-ab36-f0d82fec4eec 12 25564252 25564252 G T SNP IFLTD1 NM_152590 human genbank 54_36p -1 validated missense c.760 p.H254N 0.983 superfamily_Lamin A/C globular tail domain,HMMPfam_IF_tail superfamily_Lamin A/C globular tail domain,HMMPfam_IF_tail - no_errors HIST1H3E 8353 genome.wustl.edu 36 6 26333364 26333364 + Missense_Mutation SNP G G A novel unknown TCGA-04-1369-01A-02D-1526-09 TCGA-04-1369-11A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7a657ef6-0ff3-40cb-b02b-a1a79ef899f6 e1d50578-4839-4490-ab36-f0d82fec4eec 6 26333364 26333364 G A SNP HIST1H3E NM_003532 human genbank 54_36p +1 reviewed missense c.3 p.M1I 1.000 NULL superfamily_Histone-fold,PatternScan_HISTONE_H3_1,HMMSmart_SM00428,HMMPfam_Histone,PatternScan_HISTONE_H3_2 - no_errors BTN1A1 696 genome.wustl.edu 36 6 26617266 26617266 + Missense_Mutation SNP A A G novel unknown TCGA-04-1369-01A-02D-1526-09 TCGA-04-1369-11A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7a657ef6-0ff3-40cb-b02b-a1a79ef899f6 e1d50578-4839-4490-ab36-f0d82fec4eec 6 26617266 26617266 A G SNP BTN1A1 NM_001732 human genbank 54_36p +1 validated missense c.1466 p.Q489R 0.007 NULL superfamily_Immunoglobulin,HMMPfam_V-set,HMMSmart_SM00409,HMMSmart_SM00406,HMMPfam_C2-set_2,HMMSmart_SM00589,HMMPfam_SPRY,HMMSmart_SM00449 - no_errors CDH9 1007 genome.wustl.edu 36 5 26917246 26917246 + Missense_Mutation SNP T T C novel unknown TCGA-04-1369-01A-02D-1526-09 TCGA-04-1369-11A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7a657ef6-0ff3-40cb-b02b-a1a79ef899f6 e1d50578-4839-4490-ab36-f0d82fec4eec 5 26917246 26917246 T C SNP CDH9 NM_016279 human genbank 54_36p -1 reviewed missense c.2126 p.N709S 1.000 HMMPfam_Cadherin_C superfamily_Cadherin,HMMSmart_CA,HMMPfam_Cadherin,PatternScan_CADHERIN_1,HMMPfam_Cadherin_C - no_errors C18orf34 374864 genome.wustl.edu 36 18 28772006 28772006 + Silent SNP A A G novel unknown TCGA-04-1369-01A-02D-1526-09 TCGA-04-1369-11A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7a657ef6-0ff3-40cb-b02b-a1a79ef899f6 e1d50578-4839-4490-ab36-f0d82fec4eec 18 28772006 28772006 A G SNP C18orf34 NM_001105528 human genbank 54_36p -1 validated silent c.2571 p.T857 0.983 NULL NULL - no_errors GNL1 2794 genome.wustl.edu 36 6 30630940 30630940 + Missense_Mutation SNP G G C novel unknown TCGA-04-1369-01A-02D-1526-09 TCGA-04-1369-11A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7a657ef6-0ff3-40cb-b02b-a1a79ef899f6 e1d50578-4839-4490-ab36-f0d82fec4eec 6 30630940 30630940 G C SNP GNL1 NM_005275 human genbank 54_36p -1 reviewed missense c.247 p.L83V 1.000 NULL superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_MMR_HSR1 - no_errors KRTAP27-1 643812 genome.wustl.edu 36 21 30631724 30631724 + Missense_Mutation SNP C C T novel unknown TCGA-04-1369-01A-02D-1526-09 TCGA-04-1369-11A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7a657ef6-0ff3-40cb-b02b-a1a79ef899f6 e1d50578-4839-4490-ab36-f0d82fec4eec 21 30631724 30631724 C T SNP KRTAP27-1 NM_001077711 human genbank 54_36p -1 provisional missense c.134 p.C45Y 1.000 HMMPfam_PMG HMMPfam_PMG - no_errors LY6G6C 80740 genome.wustl.edu 36 6 31795040 31795040 + Missense_Mutation SNP G G A novel unknown TCGA-04-1369-01A-02D-1526-09 TCGA-04-1369-11A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7a657ef6-0ff3-40cb-b02b-a1a79ef899f6 e1d50578-4839-4490-ab36-f0d82fec4eec 6 31795040 31795040 G A SNP LY6G6C NM_025261 human genbank 54_36p -1 validated missense c.190 p.R64C 0.885 superfamily_Snake toxin-like superfamily_Snake toxin-like - no_errors SPAG4 6676 genome.wustl.edu 36 20 33668531 33668531 + Missense_Mutation SNP C C G novel unknown TCGA-04-1369-01A-02D-1526-09 TCGA-04-1369-11A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7a657ef6-0ff3-40cb-b02b-a1a79ef899f6 e1d50578-4839-4490-ab36-f0d82fec4eec 20 33668531 33668531 C G SNP SPAG4 NM_003116 human genbank 54_36p +1 reviewed missense c.364 p.L122V 0.908 NULL HMMPfam_Sad1_UNC - no_errors FAM47A 158724 genome.wustl.edu 36 X 34058225 34058225 + Missense_Mutation SNP A A T novel unknown TCGA-04-1369-01A-02D-1526-09 TCGA-04-1369-11A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7a657ef6-0ff3-40cb-b02b-a1a79ef899f6 e1d50578-4839-4490-ab36-f0d82fec4eec X 34058225 34058225 A T SNP FAM47A NM_203408 human genbank 54_36p -1 predicted missense c.2092 p.W698R 0.925 NULL NULL - no_errors CRKRS 51755 genome.wustl.edu 36 17 34880699 34880699 + Nonsense_Mutation SNP C G G novel unknown TCGA-04-1369-01A-02D-1526-09 TCGA-04-1369-11A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7a657ef6-0ff3-40cb-b02b-a1a79ef899f6 e1d50578-4839-4490-ab36-f0d82fec4eec 17 34880699 34880699 C G SNP CRKRS NM_016507 human genbank 54_36p +1 validated nonsense c.1088 p.S363* 1.000 NULL superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST - no_errors FAM47C 442444 genome.wustl.edu 36 X 36937558 36937558 + Missense_Mutation SNP C C A novel unknown TCGA-04-1369-01A-02D-1526-09 TCGA-04-1369-11A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7a657ef6-0ff3-40cb-b02b-a1a79ef899f6 e1d50578-4839-4490-ab36-f0d82fec4eec X 36937558 36937558 C A SNP FAM47C NM_001013736 human genbank 54_36p +1 provisional missense c.1154 p.T385N 0.281 NULL NULL - no_errors CNTNAP3 79937 genome.wustl.edu 36 9 39090025 39090025 + Missense_Mutation SNP C C G novel unknown TCGA-04-1369-01A-02D-1526-09 TCGA-04-1369-11A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7a657ef6-0ff3-40cb-b02b-a1a79ef899f6 e1d50578-4839-4490-ab36-f0d82fec4eec 9 39090025 39090025 C G SNP CNTNAP3 NM_033655 human genbank 54_36p -1 reviewed missense c.2878 p.G960R 0.995 superfamily_Concanavalin A-like lectins/glucanases,PatternScan_GLYCO_HORMONE_BETA_1 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 PGC 5225 genome.wustl.edu 36 6 41820133 41820133 + Missense_Mutation SNP T T G novel unknown TCGA-04-1369-01A-02D-1526-09 TCGA-04-1369-11A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7a657ef6-0ff3-40cb-b02b-a1a79ef899f6 e1d50578-4839-4490-ab36-f0d82fec4eec 6 41820133 41820133 T G SNP PGC NM_002630 human genbank 54_36p -1 provisional missense c.308 p.Y103S 0.978 superfamily_Pept_Aspartic,HMMPfam_Asp superfamily_Pept_Aspartic,HMMPfam_A1_Propeptide,HMMPfam_Asp,PatternScan_ASP_PROTEASE - no_errors FRMD5 84978 genome.wustl.edu 36 15 41965217 41965217 + Missense_Mutation SNP C C T novel unknown TCGA-04-1369-01A-02D-1526-09 TCGA-04-1369-11A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7a657ef6-0ff3-40cb-b02b-a1a79ef899f6 e1d50578-4839-4490-ab36-f0d82fec4eec 15 41965217 41965217 C T SNP FRMD5 NM_032892 human genbank 54_36p -1 validated missense c.913 p.V305M 1.000 superfamily_PH domain-like HMMSmart_SM00295,superfamily_Ubiquitin-like,HMMPfam_FERM_N,PatternScan_FERM_1,superfamily_Second domain of FERM,HMMPfam_FERM_M,superfamily_PH domain-like,HMMPfam_FERM_C,HMMPfam_FA - no_errors JPH2 57158 genome.wustl.edu 36 20 42221869 42221869 + Silent SNP G G A novel unknown TCGA-04-1369-01A-02D-1526-09 TCGA-04-1369-11A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7a657ef6-0ff3-40cb-b02b-a1a79ef899f6 e1d50578-4839-4490-ab36-f0d82fec4eec 20 42221869 42221869 G A SNP JPH2 NM_020433 human genbank 54_36p -1 reviewed silent c.972 p.H324 1.000 superfamily_Histone H3 K4-specific methyltransferase SET7/9 N-terminal domain,HMMSmart_SM00698,HMMPfam_MORN superfamily_Histone H3 K4-specific methyltransferase SET7/9 N-terminal domain,HMMSmart_SM00698,HMMPfam_MORN,PatternScan_SUGAR_TRANSPORT_1,PatternScan_XYLOSE_ISOMERASE_1 - no_errors GABRA2 2555 genome.wustl.edu 36 4 46000371 46000371 + Missense_Mutation SNP A A T novel unknown TCGA-04-1369-01A-02D-1526-09 TCGA-04-1369-11A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7a657ef6-0ff3-40cb-b02b-a1a79ef899f6 e1d50578-4839-4490-ab36-f0d82fec4eec 4 46000371 46000371 A T SNP GABRA2 NM_000807 human genbank 54_36p -1 reviewed missense c.719 p.M240K 1.000 superfamily_Nicotinic receptor ligand binding domain-like,HMMPfam_Neur_chan_LBD 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 PLP2 5355 genome.wustl.edu 36 X 48916793 48916793 + Missense_Mutation SNP G G T novel unknown TCGA-04-1369-01A-02D-1526-09 TCGA-04-1369-11A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7a657ef6-0ff3-40cb-b02b-a1a79ef899f6 e1d50578-4839-4490-ab36-f0d82fec4eec X 48916793 48916793 G T SNP PLP2 ENST00000376322 human ensembl 54_36p +1 known missense c.364 p.A122S 0.045 HMMPfam_MARVEL HMMPfam_MARVEL - no_errors SYP 6855 genome.wustl.edu 36 X 48941212 48941212 + Missense_Mutation SNP C C T novel unknown TCGA-04-1369-01A-02D-1526-09 TCGA-04-1369-11A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7a657ef6-0ff3-40cb-b02b-a1a79ef899f6 e1d50578-4839-4490-ab36-f0d82fec4eec X 48941212 48941212 C T SNP SYP NM_003179 human genbank 54_36p -1 reviewed missense c.133 p.G45S 1.000 HMMPfam_MARVEL HMMPfam_MARVEL,PatternScan_SYNAPTOP - no_errors CYP19A1 1588 genome.wustl.edu 36 15 49292019 49292019 + Silent SNP T T C novel unknown TCGA-04-1369-01A-02D-1526-09 TCGA-04-1369-11A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7a657ef6-0ff3-40cb-b02b-a1a79ef899f6 e1d50578-4839-4490-ab36-f0d82fec4eec 15 49292019 49292019 T C SNP CYP19A1 NM_000103 human genbank 54_36p -1 reviewed silent c.1053 p.Q351 0.400 superfamily_Cytochrome_P450,HMMPfam_p450 superfamily_Cytochrome_P450,HMMPfam_p450,PatternScan_CYTOCHROME_P450 - no_errors NUDT11 55190 genome.wustl.edu 36 X 51256008 51256008 + Missense_Mutation SNP G G T novel unknown TCGA-04-1369-01A-02D-1526-09 TCGA-04-1369-11A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7a657ef6-0ff3-40cb-b02b-a1a79ef899f6 e1d50578-4839-4490-ab36-f0d82fec4eec X 51256008 51256008 G T SNP NUDT11 NM_018159 human genbank 54_36p -1 validated missense c.29 p.T10N 1.000 NULL superfamily_NUDIX_hydrolase,HMMPfam_NUDIX,PatternScan_NUDIX - no_errors WNK3 65267 genome.wustl.edu 36 X 54294827 54294827 + Silent SNP G G A novel unknown TCGA-04-1369-01A-02D-1526-09 TCGA-04-1369-11A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7a657ef6-0ff3-40cb-b02b-a1a79ef899f6 e1d50578-4839-4490-ab36-f0d82fec4eec X 54294827 54294827 G A SNP WNK3 NM_020922 human genbank 54_36p -1 validated silent c.2386 p.L796 1.000 superfamily_Kinase_like superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ST - no_errors OR8H1 219469 genome.wustl.edu 36 11 55814569 55814569 + Silent SNP T T G novel unknown TCGA-04-1369-01A-02D-1526-09 TCGA-04-1369-11A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7a657ef6-0ff3-40cb-b02b-a1a79ef899f6 e1d50578-4839-4490-ab36-f0d82fec4eec 11 55814569 55814569 T G SNP OR8H1 NM_001005199 human genbank 54_36p -1 provisional silent c.546 p.P182 0.000 superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1 superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors RAB23 51715 genome.wustl.edu 36 6 57163257 57163257 + Missense_Mutation SNP C C G novel unknown TCGA-04-1369-01A-02D-1526-09 TCGA-04-1369-11A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7a657ef6-0ff3-40cb-b02b-a1a79ef899f6 e1d50578-4839-4490-ab36-f0d82fec4eec 6 57163257 57163257 C G SNP RAB23 NM_016277 human genbank 54_36p -1 reviewed missense c.675 p.K225N 1.000 NULL superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00175,HMMPfam_Ras,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00176 - no_errors OR9I1 219954 genome.wustl.edu 36 11 57643200 57643200 + Missense_Mutation SNP G G A novel unknown TCGA-04-1369-01A-02D-1526-09 TCGA-04-1369-11A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7a657ef6-0ff3-40cb-b02b-a1a79ef899f6 e1d50578-4839-4490-ab36-f0d82fec4eec 11 57643200 57643200 G A SNP OR9I1 NM_001005211 human genbank 54_36p -1 provisional missense c.293 p.A98V 0.093 superfamily_SSF81321,HMMPfam_7tm_1 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors SS18L1 26039 genome.wustl.edu 36 20 60172026 60172026 + Missense_Mutation SNP G G A novel unknown TCGA-04-1369-01A-02D-1526-09 TCGA-04-1369-11A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7a657ef6-0ff3-40cb-b02b-a1a79ef899f6 e1d50578-4839-4490-ab36-f0d82fec4eec 20 60172026 60172026 G A SNP SS18L1 NM_198935 human genbank 54_36p +1 validated missense c.674 p.S225N 1.000 NULL HMMPfam_SSXT - no_errors RTEL1 51750 genome.wustl.edu 36 20 61796238 61796238 + Missense_Mutation SNP A A T novel unknown TCGA-04-1369-01A-02D-1526-09 TCGA-04-1369-11A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7a657ef6-0ff3-40cb-b02b-a1a79ef899f6 e1d50578-4839-4490-ab36-f0d82fec4eec 20 61796238 61796238 A T SNP RTEL1 NM_032957 human genbank 54_36p +1 reviewed missense c.3062 p.H1021L 0.996 NULL superfamily_SSF52540,HMMSmart_DEXDc2,HMMPfam_ResIII,HMMPfam_DEAD_2,HMMSmart_HELICc2,superfamily_SSF57850 - no_errors MTA2 9219 genome.wustl.edu 36 11 62120874 62120874 + Splice_Site SNP C C G novel unknown TCGA-04-1369-01A-02D-1526-09 TCGA-04-1369-11A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7a657ef6-0ff3-40cb-b02b-a1a79ef899f6 e1d50578-4839-4490-ab36-f0d82fec4eec 11 62120874 62120874 C G SNP MTA2 NM_004739 human genbank 54_36p -1 reviewed splice_site c.694-1 e9-1 1.000 - - - no_errors LOC389404 389404 genome.wustl.edu 36 6 64383879 64383879 + RNA SNP C C G novel unknown TCGA-04-1369-01A-02D-1526-09 TCGA-04-1369-11A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7a657ef6-0ff3-40cb-b02b-a1a79ef899f6 e1d50578-4839-4490-ab36-f0d82fec4eec 6 64383879 64383879 C G SNP LOC389404 XR_016190 human genbank 54_36p -1 model rna NULL NULL 0.997 - - - pseudogene HYDIN 54768 genome.wustl.edu 36 16 69721065 69721065 + Silent SNP G G A novel unknown TCGA-04-1369-01A-02D-1526-09 TCGA-04-1369-11A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7a657ef6-0ff3-40cb-b02b-a1a79ef899f6 e1d50578-4839-4490-ab36-f0d82fec4eec 16 69721065 69721065 G A SNP HYDIN NM_032821 human genbank 54_36p -1 validated silent c.1206 p.N402 0.020 NULL superfamily_PapD-like,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors SULT1B1 27284 genome.wustl.edu 36 4 70634555 70634555 + Missense_Mutation SNP C C G novel unknown TCGA-04-1369-01A-02D-1526-09 TCGA-04-1369-11A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7a657ef6-0ff3-40cb-b02b-a1a79ef899f6 e1d50578-4839-4490-ab36-f0d82fec4eec 4 70634555 70634555 C G SNP SULT1B1 NM_014465 human genbank 54_36p -1 reviewed missense c.392 p.R131P 1.000 superfamily_SSF52540,HMMPfam_Sulfotransfer_1 superfamily_SSF52540,HMMPfam_Sulfotransfer_1 - no_errors PDE2A 5138 genome.wustl.edu 36 11 71966940 71966940 + Missense_Mutation SNP G G A novel unknown TCGA-04-1369-01A-02D-1526-09 TCGA-04-1369-11A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7a657ef6-0ff3-40cb-b02b-a1a79ef899f6 e1d50578-4839-4490-ab36-f0d82fec4eec 11 71966940 71966940 G A SNP PDE2A NM_002599 human genbank 54_36p -1 validated missense c.2600 p.A867V 1.000 superfamily_HD-domain/PDEase-like,HMMPfam_PDEase_I superfamily_GAF domain-like,HMMPfam_GAF,HMMSmart_SM00065,superfamily_HD-domain/PDEase-like,HMMSmart_SM00471,HMMPfam_PDEase_I,PatternScan_PDEASE_I - no_errors LOC441775 441775 genome.wustl.edu 36 16 74826786 74826786 + RNA SNP G G A novel unknown TCGA-04-1369-01A-02D-1526-09 TCGA-04-1369-11A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7a657ef6-0ff3-40cb-b02b-a1a79ef899f6 e1d50578-4839-4490-ab36-f0d82fec4eec 16 74826786 74826786 G A SNP LOC441775 XR_042366 human genbank 54_36p -1 model rna NULL NULL 0.816 - - - pseudogene CNGB3 54714 genome.wustl.edu 36 8 87714097 87714097 + Missense_Mutation SNP T T C novel unknown TCGA-04-1369-01A-02D-1526-09 TCGA-04-1369-11A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7a657ef6-0ff3-40cb-b02b-a1a79ef899f6 e1d50578-4839-4490-ab36-f0d82fec4eec 8 87714097 87714097 T C SNP CNGB3 NM_019098 human genbank 54_36p -1 validated missense c.1319 p.Q440R 1.000 superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans 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 HTR1E 3354 genome.wustl.edu 36 6 87781916 87781916 + Missense_Mutation SNP A A C novel unknown TCGA-04-1369-01A-02D-1526-09 TCGA-04-1369-11A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7a657ef6-0ff3-40cb-b02b-a1a79ef899f6 e1d50578-4839-4490-ab36-f0d82fec4eec 6 87781916 87781916 A C SNP HTR1E NM_000865 human genbank 54_36p +1 validated missense c.145 p.T49P 0.998 superfamily_SSF81321,HMMPfam_7tm_1 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors NAALAD2 10003 genome.wustl.edu 36 11 89548840 89548840 + Missense_Mutation SNP G G C novel unknown TCGA-04-1369-01A-02D-1526-09 TCGA-04-1369-11A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7a657ef6-0ff3-40cb-b02b-a1a79ef899f6 e1d50578-4839-4490-ab36-f0d82fec4eec 11 89548840 89548840 G C SNP NAALAD2 NM_005467 human genbank 54_36p +1 reviewed missense c.1555 p.G519R 1.000 superfamily_Zn-dependent exopeptidases superfamily_Transferrin receptor ectodomain apical domain,HMMPfam_PA,superfamily_Zn-dependent exopeptidases,HMMPfam_Peptidase_M28,superfamily_Transferrin receptor ectodomain C-terminal domain,HMMPfam_TFR_dimer - no_errors WNK2 65268 genome.wustl.edu 36 9 95070946 95070946 + Missense_Mutation SNP C C A novel unknown TCGA-04-1369-01A-02D-1526-09 TCGA-04-1369-11A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7a657ef6-0ff3-40cb-b02b-a1a79ef899f6 e1d50578-4839-4490-ab36-f0d82fec4eec 9 95070946 95070946 C A SNP WNK2 ENST00000297954 human ensembl 54_36p +1 known missense c.4037 p.P1346Q 0.000 NULL superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ST - no_errors NEDD1 121441 genome.wustl.edu 36 12 95837981 95837981 + Missense_Mutation SNP C C A novel unknown TCGA-04-1369-01A-02D-1526-09 TCGA-04-1369-11A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7a657ef6-0ff3-40cb-b02b-a1a79ef899f6 e1d50578-4839-4490-ab36-f0d82fec4eec 12 95837981 95837981 C A SNP NEDD1 NM_152905 human genbank 54_36p +1 validated missense c.436 p.H146N 1.000 superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40 superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40,PatternScan_WD_REPEATS_1 - no_errors FARP1 10160 genome.wustl.edu 36 13 97890293 97890293 + Silent SNP C C T novel unknown TCGA-04-1369-01A-02D-1526-09 TCGA-04-1369-11A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7a657ef6-0ff3-40cb-b02b-a1a79ef899f6 e1d50578-4839-4490-ab36-f0d82fec4eec 13 97890293 97890293 C T SNP FARP1 NM_005766 human genbank 54_36p +1 reviewed silent c.2511 p.A837 0.976 superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233 HMMSmart_SM00295,superfamily_Ubiquitin-like,HMMPfam_FERM_N,PatternScan_FERM_1,superfamily_Second domain of FERM,HMMPfam_FERM_M,superfamily_PH domain-like,HMMPfam_FERM_C,HMMPfam_FA,superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325,HMMPfam_PH,HMMSmart_SM00233 - no_errors INVS 27130 genome.wustl.edu 36 9 101906700 101906700 + Missense_Mutation SNP G G A novel unknown TCGA-04-1369-01A-02D-1526-09 TCGA-04-1369-11A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7a657ef6-0ff3-40cb-b02b-a1a79ef899f6 e1d50578-4839-4490-ab36-f0d82fec4eec 9 101906700 101906700 G A SNP INVS NM_014425 human genbank 54_36p +1 reviewed missense c.76 p.D26N 1.000 superfamily_Ankyrin repeat superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank,HMMSmart_SM00015,HMMPfam_IQ - no_errors STAB2 55576 genome.wustl.edu 36 12 102653441 102653441 + Silent SNP C C T novel unknown TCGA-04-1369-01A-02D-1526-09 TCGA-04-1369-11A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7a657ef6-0ff3-40cb-b02b-a1a79ef899f6 e1d50578-4839-4490-ab36-f0d82fec4eec 12 102653441 102653441 C T SNP STAB2 NM_017564 human genbank 54_36p +1 reviewed silent c.5503 p.L1835 0.983 superfamily_BIgH3_FAS1,HMMPfam_Fasciclin,HMMSmart_FAS1 HMMSmart_EGF,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_alliinase,superfamily_SSF57196,HMMPfam_EGF,superfamily_BIgH3_FAS1,HMMPfam_Fasciclin,HMMSmart_FAS1,HMMPfam_Laminin_EGF,PatternScan_EGF_LAM_1,superfamily_Grow_fac_recept,HMMPfam_EGF_2,HMMSmart_LINK,HMMPfam_Xlink,superfamily_C-type_lectin_fold,PatternScan_LINK_1 - no_errors COL11A1 1301 genome.wustl.edu 36 1 103152919 103152919 + Missense_Mutation SNP C C T novel unknown TCGA-04-1369-01A-02D-1526-09 TCGA-04-1369-11A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7a657ef6-0ff3-40cb-b02b-a1a79ef899f6 e1d50578-4839-4490-ab36-f0d82fec4eec 1 103152919 103152919 C T SNP COL11A1 NM_080629 human genbank 54_36p -1 reviewed missense c.3889 p.G1297S 1.000 HMMPfam_Collagen HMMSmart_TSPN,superfamily_ConA_like_lec_gl,HMMSmart_LamG,HMMPfam_Laminin_G_2,HMMPfam_Collagen,HMMSmart_COLFI,HMMPfam_COLFI - no_errors ACACB 32 genome.wustl.edu 36 12 108138992 108138992 + Missense_Mutation SNP G G A novel unknown TCGA-04-1369-01A-02D-1526-09 TCGA-04-1369-11A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7a657ef6-0ff3-40cb-b02b-a1a79ef899f6 e1d50578-4839-4490-ab36-f0d82fec4eec 12 108138992 108138992 G A SNP ACACB NM_001093 human genbank 54_36p +1 reviewed missense c.3448 p.D1150N 1.000 HMMPfam_ACC_central HMMPfam_CPSase_L_chain,superfamily_PreATP-grasp domain,superfamily_Glutathione synthetase ATP-binding domain-like,HMMPfam_CPSase_L_D2,PatternScan_CPSASE_1,PatternScan_CPSASE_2,superfamily_Rudiment single hybrid motif,HMMPfam_Biotin_carb_C,superfamily_Single hybrid motif,HMMPfam_Biotin_lipoyl,HMMPfam_ACC_central,superfamily_ClpP/crotonase,HMMPfam_Carboxyl_trans - no_errors COL27A1 85301 genome.wustl.edu 36 9 116094269 116094269 + Silent SNP G G T novel unknown TCGA-04-1369-01A-02D-1526-09 TCGA-04-1369-11A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7a657ef6-0ff3-40cb-b02b-a1a79ef899f6 e1d50578-4839-4490-ab36-f0d82fec4eec 9 116094269 116094269 G T SNP COL27A1 NM_032888 human genbank 54_36p +1 provisional silent c.4542 p.G1514 0.997 HMMPfam_Collagen HMMSmart_SM00210,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Collagen,HMMSmart_SM00038,HMMPfam_COLFI - no_errors KLHL13 90293 genome.wustl.edu 36 X 116938306 116938306 + Missense_Mutation SNP C C A novel unknown TCGA-04-1369-01A-02D-1526-09 TCGA-04-1369-11A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7a657ef6-0ff3-40cb-b02b-a1a79ef899f6 e1d50578-4839-4490-ab36-f0d82fec4eec X 116938306 116938306 C A SNP KLHL13 NM_033495 human genbank 54_36p -1 validated missense c.296 p.G99V 1.000 superfamily_POZ domain,HMMPfam_BTB,HMMSmart_SM00225 superfamily_POZ domain,HMMPfam_BTB,HMMSmart_SM00225,HMMPfam_BACK,superfamily_Galactose oxidase central domain,HMMSmart_SM00612,HMMPfam_Kelch_1 - no_errors GLUD2 2747 genome.wustl.edu 36 X 120010779 120010779 + Missense_Mutation SNP A A C novel unknown TCGA-04-1369-01A-02D-1526-09 TCGA-04-1369-11A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7a657ef6-0ff3-40cb-b02b-a1a79ef899f6 e1d50578-4839-4490-ab36-f0d82fec4eec X 120010779 120010779 A C SNP GLUD2 NM_012084 human genbank 54_36p +1 validated missense c.1560 p.Q520H 1.000 superfamily_NAD(P)-bd superfamily_SSF53223,HMMPfam_ELFV_dehydrog_N,PatternScan_GLFV_DEHYDROGENASE,HMMPfam_ELFV_dehydrog,superfamily_NAD(P)-bd - no_errors REG4 83998 genome.wustl.edu 36 1 120147217 120147217 + Silent SNP G G T novel unknown TCGA-04-1369-01A-02D-1526-09 TCGA-04-1369-11A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7a657ef6-0ff3-40cb-b02b-a1a79ef899f6 e1d50578-4839-4490-ab36-f0d82fec4eec 1 120147217 120147217 G T SNP REG4 NM_032044 human genbank 54_36p -1 validated silent c.162 p.A54 0.998 superfamily_C-type lectin-like,HMMSmart_SM00034,HMMPfam_Lectin_C superfamily_C-type lectin-like,HMMSmart_SM00034,HMMPfam_Lectin_C,PatternScan_C_TYPE_LECTIN_1 - no_errors SLC13A1 6561 genome.wustl.edu 36 7 122556228 122556228 + Missense_Mutation SNP T T C novel unknown TCGA-04-1369-01A-02D-1526-09 TCGA-04-1369-11A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7a657ef6-0ff3-40cb-b02b-a1a79ef899f6 e1d50578-4839-4490-ab36-f0d82fec4eec 7 122556228 122556228 T C SNP SLC13A1 NM_022444 human genbank 54_36p -1 validated missense c.1040 p.E347G 1.000 HMMPfam_Na_sulph_symp HMMPfam_Na_sulph_symp,PatternScan_NA_SULFATE - no_errors ACSL6 23305 genome.wustl.edu 36 5 131335191 131335191 + Missense_Mutation SNP G G A novel unknown TCGA-04-1369-01A-02D-1526-09 TCGA-04-1369-11A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7a657ef6-0ff3-40cb-b02b-a1a79ef899f6 e1d50578-4839-4490-ab36-f0d82fec4eec 5 131335191 131335191 G A SNP ACSL6 NM_001009185 human genbank 54_36p -1 validated missense c.1385 p.P462L 1.000 superfamily_SSF56801,HMMPfam_AMP-binding superfamily_SSF56801,HMMPfam_AMP-binding,PatternScan_AMP_BINDING - no_errors STAG1 10274 genome.wustl.edu 36 3 137635107 137635107 + Missense_Mutation SNP C C A novel unknown TCGA-04-1369-01A-02D-1526-09 TCGA-04-1369-11A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7a657ef6-0ff3-40cb-b02b-a1a79ef899f6 e1d50578-4839-4490-ab36-f0d82fec4eec 3 137635107 137635107 C A SNP STAG1 NM_005862 human genbank 54_36p -1 reviewed missense c.1631 p.G544V 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold,HMMPfam_STAG - no_errors PCDHGC5 56097 genome.wustl.edu 36 5 140849352 140849352 + Missense_Mutation SNP G G A novel unknown TCGA-04-1369-01A-02D-1526-09 TCGA-04-1369-11A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7a657ef6-0ff3-40cb-b02b-a1a79ef899f6 e1d50578-4839-4490-ab36-f0d82fec4eec 5 140849352 140849352 G A SNP PCDHGC5 NM_018929 human genbank 54_36p +1 reviewed missense c.361 p.V121I 1.000 superfamily_Cadherin-like,HMMSmart_SM00112,PatternScan_CADHERIN_1 superfamily_Cadherin-like,HMMPfam_Cadherin_2,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin - no_errors NFKBIL2 4796 genome.wustl.edu 36 8 145636236 145636236 + Missense_Mutation SNP C C A novel unknown TCGA-04-1369-01A-02D-1526-09 TCGA-04-1369-11A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7a657ef6-0ff3-40cb-b02b-a1a79ef899f6 e1d50578-4839-4490-ab36-f0d82fec4eec 8 145636236 145636236 C A SNP NFKBIL2 NM_013432 human genbank 54_36p -1 reviewed missense c.979 p.G327C 0.997 superfamily_Ankyrin repeat HMMPfam_TPR_1,HMMSmart_SM00028,superfamily_TPR-like,superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank,superfamily_RNI-like,HMMSmart_SM00368 - no_errors SEMA6C 10500 genome.wustl.edu 36 1 149374277 149374277 + Silent SNP A A G novel unknown TCGA-04-1369-01A-02D-1526-09 TCGA-04-1369-11A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7a657ef6-0ff3-40cb-b02b-a1a79ef899f6 e1d50578-4839-4490-ab36-f0d82fec4eec 1 149374277 149374277 A G SNP SEMA6C NM_030913 human genbank 54_36p -1 reviewed silent c.1566 p.H522 0.870 HMMPfam_PSI,superfamily_Plexin repeat superfamily_Sema domain,HMMSmart_SM00630,HMMPfam_Sema,HMMPfam_PSI,superfamily_Plexin repeat - no_errors HRNR 388697 genome.wustl.edu 36 1 150460315 150460315 + Silent SNP A A G novel unknown TCGA-04-1369-01A-02D-1526-09 TCGA-04-1369-11A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7a657ef6-0ff3-40cb-b02b-a1a79ef899f6 e1d50578-4839-4490-ab36-f0d82fec4eec 1 150460315 150460315 A G SNP HRNR NM_001009931 human genbank 54_36p -1 validated silent c.414 p.D138 0.001 NULL superfamily_SSF47473,HMMPfam_S_100,PatternScan_S100_CABP,PatternScan_EF_HAND_1,HMMPfam_SVS_QK - no_errors ASB10 136371 genome.wustl.edu 36 7 150509378 150509378 + Nonsense_Mutation SNP C C A novel unknown TCGA-04-1369-01A-02D-1526-09 TCGA-04-1369-11A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7a657ef6-0ff3-40cb-b02b-a1a79ef899f6 e1d50578-4839-4490-ab36-f0d82fec4eec 7 150509378 150509378 C A SNP ASB10 NM_080871 human genbank 54_36p -1 reviewed nonsense c.685 p.E229* 0.362 superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank superfamily_ANK,HMMPfam_Ank,HMMSmart_ANK,HMMPfam_SOCS_box - no_errors MLL3 58508 genome.wustl.edu 36 7 151490354 151490354 + Silent SNP G G A novel unknown TCGA-04-1369-01A-02D-1526-09 TCGA-04-1369-11A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7a657ef6-0ff3-40cb-b02b-a1a79ef899f6 e1d50578-4839-4490-ab36-f0d82fec4eec 7 151490354 151490354 G A SNP MLL3 NM_170606 human genbank 54_36p -1 reviewed silent c.11241 p.N3747 0.021 NULL PatternScan_HMGI_Y,HMMPfam_AT_hook,HMMSmart_SM00249,superfamily_FYVE/PHD zinc finger,HMMPfam_PHD,HMMSmart_SM00184,PatternScan_ZF_PHD_1,PatternScan_ATPASE_ALPHA_BETA,HMMSmart_SM00398,HMMPfam_HMG_box,HMMPfam_FYRN,HMMSmart_SM00541,HMMPfam_FYRC,HMMSmart_SM00542,superfamily_SET domain,HMMPfam_SET,HMMSmart_SM00317,HMMSmart_SM00508 - no_errors SH3D19 152503 genome.wustl.edu 36 4 152315427 152315427 + Missense_Mutation SNP T T A novel unknown TCGA-04-1369-01A-02D-1526-09 TCGA-04-1369-11A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7a657ef6-0ff3-40cb-b02b-a1a79ef899f6 e1d50578-4839-4490-ab36-f0d82fec4eec 4 152315427 152315427 T A SNP SH3D19 NM_001009555 human genbank 54_36p -1 validated missense c.530 p.K177M 0.993 NULL superfamily_SH3-domain,HMMSmart_SM00326,HMMPfam_SH3_2,HMMPfam_SH3_1 - no_errors CD1A 909 genome.wustl.edu 36 1 156492690 156492690 + Missense_Mutation SNP C C T novel unknown TCGA-04-1369-01A-02D-1526-09 TCGA-04-1369-11A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7a657ef6-0ff3-40cb-b02b-a1a79ef899f6 e1d50578-4839-4490-ab36-f0d82fec4eec 1 156492690 156492690 C T SNP CD1A NM_001763 human genbank 54_36p +1 reviewed missense c.598 p.R200W 0.000 superfamily_MHC_I/II-like_Ag-recog HMMPfam_MHC_I,superfamily_MHC_I/II-like_Ag-recog,superfamily_SSF48726,HMMPfam_C1-set,HMMSmart_IGc1 - no_errors PDE10A 10846 genome.wustl.edu 36 6 165672838 165672838 + Splice_Site SNP C C A novel unknown TCGA-04-1369-01A-02D-1526-09 TCGA-04-1369-11A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7a657ef6-0ff3-40cb-b02b-a1a79ef899f6 e1d50578-4839-4490-ab36-f0d82fec4eec 6 165672838 165672838 C A SNP PDE10A NM_006661 human genbank 54_36p -1 validated splice_site c.2068-1 e20-1 1.000 - - - no_errors ZNF454 285676 genome.wustl.edu 36 5 178324979 178324979 + Missense_Mutation SNP G G T novel unknown TCGA-04-1369-01A-02D-1526-09 TCGA-04-1369-11A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7a657ef6-0ff3-40cb-b02b-a1a79ef899f6 e1d50578-4839-4490-ab36-f0d82fec4eec 5 178324979 178324979 G T SNP ZNF454 NM_182594 human genbank 54_36p +1 provisional missense c.968 p.S323I 1.000 superfamily_C2H2 and C2HC zinc fingers superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1 - no_errors TTN 7273 genome.wustl.edu 36 2 179348685 179348685 + Missense_Mutation SNP T T C novel unknown TCGA-04-1369-01A-02D-1526-09 TCGA-04-1369-11A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7a657ef6-0ff3-40cb-b02b-a1a79ef899f6 e1d50578-4839-4490-ab36-f0d82fec4eec 2 179348685 179348685 T C SNP TTN NM_133379 human genbank 54_36p -1 reviewed missense c.6151 p.K2051E 1.000 NULL superfamily_SSF48726,HMMPfam_I-set,HMMSmart_IGc2,HMMSmart_IG,HMMPfam_Titin_Z,HMMPfam_ig,PatternScan_IG_MHC,PatternScan_THIOL_PROTEASE_HIS - no_errors USP13 8975 genome.wustl.edu 36 3 180940737 180940737 + Silent SNP G G A novel unknown TCGA-04-1369-01A-02D-1526-09 TCGA-04-1369-11A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7a657ef6-0ff3-40cb-b02b-a1a79ef899f6 e1d50578-4839-4490-ab36-f0d82fec4eec 3 180940737 180940737 G A SNP USP13 NM_003940 human genbank 54_36p +1 validated silent c.1263 p.Q421 1.000 superfamily_SSF54001,HMMPfam_UCH HMMSmart_ZnF_UBP,HMMPfam_zf-UBP,superfamily_SSF54001,HMMPfam_UCH,PatternScan_UCH_2_1,HMMPfam_UBA,HMMSmart_UBA,superfamily_UBA_like,PatternScan_UCH_2_2 - no_errors LAMP3 27074 genome.wustl.edu 36 3 184354235 184354235 + Missense_Mutation SNP C C T novel unknown TCGA-04-1369-01A-02D-1526-09 TCGA-04-1369-11A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7a657ef6-0ff3-40cb-b02b-a1a79ef899f6 e1d50578-4839-4490-ab36-f0d82fec4eec 3 184354235 184354235 C T SNP LAMP3 NM_014398 human genbank 54_36p -1 validated missense c.688 p.V230I 0.328 HMMPfam_Lamp HMMPfam_Lamp - no_errors HMCN1 83872 genome.wustl.edu 36 1 184379944 184379944 + Silent SNP C C T novel unknown TCGA-04-1369-01A-02D-1526-09 TCGA-04-1369-11A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7a657ef6-0ff3-40cb-b02b-a1a79ef899f6 e1d50578-4839-4490-ab36-f0d82fec4eec 1 184379944 184379944 C T SNP HMCN1 NM_031935 human genbank 54_36p +1 reviewed silent c.13941 p.S4647 0.005 superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1 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 HMCN1 83872 genome.wustl.edu 36 1 184387095 184387095 + Missense_Mutation SNP C C T novel unknown TCGA-04-1369-01A-02D-1526-09 TCGA-04-1369-11A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7a657ef6-0ff3-40cb-b02b-a1a79ef899f6 e1d50578-4839-4490-ab36-f0d82fec4eec 1 184387095 184387095 C T SNP HMCN1 NM_031935 human genbank 54_36p +1 reviewed missense c.14749 p.R4917C 1.000 HMMPfam_G2F,HMMSmart_SM00682,superfamily_GFP-like PatternScan_ASX_HYDROXYL,PatternScan_CECROPIN,HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00179,HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_EGF,HMMSmart_SM00181,HMMPfam_G2F,HMMSmart_SM00682,superfamily_GFP-like,PatternScan_EGF_2,HMMPfam_EGF_CA,HMMPfam_I-set,HMMPfam_ig,PatternScan_EGF_CA,superfamily_Immunoglobulin,superfamily_vWA-like,superfamily_EGF/Laminin - no_errors KCNT2 343450 genome.wustl.edu 36 1 194658867 194658867 + Splice_Site SNP C C A novel unknown TCGA-04-1369-01A-02D-1526-09 TCGA-04-1369-11A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7a657ef6-0ff3-40cb-b02b-a1a79ef899f6 e1d50578-4839-4490-ab36-f0d82fec4eec 1 194658867 194658867 C A SNP KCNT2 NM_198503 human genbank 54_36p -1 validated splice_site c.1122-1 e12-1 1.000 - - - no_errors GPR25 2848 genome.wustl.edu 36 1 199109688 199109688 + Missense_Mutation SNP C C G novel unknown TCGA-04-1369-01A-02D-1526-09 TCGA-04-1369-11A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7a657ef6-0ff3-40cb-b02b-a1a79ef899f6 e1d50578-4839-4490-ab36-f0d82fec4eec 1 199109688 199109688 C G SNP GPR25 NM_005298 human genbank 54_36p +1 provisional missense c.900 p.S300R 1.000 superfamily_SSF81321,HMMPfam_7tm_1 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors IL20 50604 genome.wustl.edu 36 1 205106525 205106525 + Missense_Mutation SNP C C A novel unknown TCGA-04-1369-01A-02D-1526-09 TCGA-04-1369-11A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7a657ef6-0ff3-40cb-b02b-a1a79ef899f6 e1d50578-4839-4490-ab36-f0d82fec4eec 1 205106525 205106525 C A SNP IL20 NM_018724 human genbank 54_36p +1 reviewed missense c.299 p.T100N 0.980 HMMPfam_IL10,superfamily_4_helix_cytokine,HMMSmart_IL10 HMMPfam_IL10,superfamily_4_helix_cytokine,HMMSmart_IL10,PatternScan_INTERLEUKIN_10 - no_errors ABCA12 26154 genome.wustl.edu 36 2 215510514 215510514 + Missense_Mutation SNP A A G novel unknown TCGA-04-1369-01A-02D-1526-09 TCGA-04-1369-11A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7a657ef6-0ff3-40cb-b02b-a1a79ef899f6 e1d50578-4839-4490-ab36-f0d82fec4eec 2 215510514 215510514 A G SNP ABCA12 NM_173076 human genbank 54_36p -1 reviewed missense c.7507 p.F2503L 0.997 superfamily_P-loop containing nucleoside triphosphate hydrolases superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_ABC_tran,PatternScan_ABC_TRANSPORTER_1 - no_errors CDC42BPA 8476 genome.wustl.edu 36 1 225259428 225259428 + Missense_Mutation SNP C C A novel unknown TCGA-04-1369-01A-02D-1526-09 TCGA-04-1369-11A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7a657ef6-0ff3-40cb-b02b-a1a79ef899f6 e1d50578-4839-4490-ab36-f0d82fec4eec 1 225259428 225259428 C A SNP CDC42BPA NM_003607 human genbank 54_36p -1 reviewed missense c.4760 p.R1587L 1.000 HMMSmart_PBD superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST,HMMSmart_S_TK_X,HMMPfam_Pkinase_C,HMMPfam_DMPK_coil,superfamily_SSF57889,HMMSmart_C1,PatternScan_ZF_DAG_PE_1,HMMPfam_C1_1,PatternScan_C_TYPE_LECTIN_1,superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH,HMMPfam_CNH,HMMSmart_CNH,HMMSmart_PBD - no_errors CAPN9 10753 genome.wustl.edu 36 1 228994853 228994853 + Missense_Mutation SNP A A C novel unknown TCGA-04-1369-01A-02D-1526-09 TCGA-04-1369-11A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 7a657ef6-0ff3-40cb-b02b-a1a79ef899f6 e1d50578-4839-4490-ab36-f0d82fec4eec 1 228994853 228994853 A C SNP CAPN9 NM_006615 human genbank 54_36p +1 reviewed missense c.1781 p.K594T 1.000 superfamily_EF-hand superfamily_Cysteine proteinases,HMMSmart_SM00230,HMMPfam_Peptidase_C2,PatternScan_THIOL_PROTEASE_CYS,HMMPfam_Calpain_III,HMMSmart_SM00720,superfamily_Calpain large subunit middle domain (domain III),superfamily_EF-hand,HMMSmart_SM00054,HMMPfam_efhand,PatternScan_EF_HAND_1 - no_errors