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-ND6 4541 genome.wustl.edu 36 MT 14191 14191 + Missense_Mutation SNP C C T novel unknown TCGA-61-1722-01A-01D-1556-09 TCGA-61-1722-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f789c98d-74dd-4d65-b5f4-a18072db3f6e c11b3ecb-7c61-44d8-b799-4d3c181bddca MT 14191 14191 C T SNP MT-ND6 ENST00000361681 human ensembl 54_36p -1 known missense c.484 p.V162I NULL HMMPfam_Oxidored_q3 HMMPfam_Oxidored_q3 - no_stop_codon ENSG00000215781 0 genome.wustl.edu 36 NT_113901 48962 48962 + Silent SNP T C C novel unknown TCGA-61-1722-01A-01D-1556-09 TCGA-61-1722-11A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f789c98d-74dd-4d65-b5f4-a18072db3f6e c11b3ecb-7c61-44d8-b799-4d3c181bddca NT_113901 48962 48962 T C SNP ENSG00000215781 ENST00000400890 human ensembl 54_36p -1 known silent c.156 p.E52 NULL NULL NULL - no_errors CSNK2A1 1457 genome.wustl.edu 36 20 433797 433797 + Missense_Mutation SNP T T G novel unknown TCGA-61-1722-01A-01D-1556-09 TCGA-61-1722-11A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f789c98d-74dd-4d65-b5f4-a18072db3f6e c11b3ecb-7c61-44d8-b799-4d3c181bddca 20 433797 433797 T G SNP CSNK2A1 NM_001895 human genbank 54_36p -1 reviewed missense c.178 p.T60P 1.000 superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST - no_errors SLC4A11 83959 genome.wustl.edu 36 20 3166563 3166563 + Missense_Mutation SNP T T C novel unknown TCGA-61-1722-01A-01D-1556-09 TCGA-61-1722-11A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f789c98d-74dd-4d65-b5f4-a18072db3f6e c11b3ecb-7c61-44d8-b799-4d3c181bddca 20 3166563 3166563 T C SNP SLC4A11 ENST00000380059 human ensembl 54_36p -1 known missense c.148 p.R50G 0.000 NULL superfamily_Phoshotransferase/anion transport protein,HMMPfam_HCO3_cotransp - no_errors TP53 7157 genome.wustl.edu 36 17 7518272 7518272 + Missense_Mutation SNP C C T novel unknown TCGA-61-1722-01A-01D-1556-09 TCGA-61-1722-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f789c98d-74dd-4d65-b5f4-a18072db3f6e c11b3ecb-7c61-44d8-b799-4d3c181bddca 17 7518272 7518272 C T SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.734 p.G245D 1.000 HMMPfam_P53,superfamily_p53-like transcription factors,PatternScan_P53 HMMPfam_P53_TAD,HMMPfam_P53,superfamily_p53-like transcription factors,PatternScan_P53,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain - no_errors ADCY2 108 genome.wustl.edu 36 5 7748868 7748868 + Silent SNP C C A novel unknown TCGA-61-1722-01A-01D-1556-09 TCGA-61-1722-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f789c98d-74dd-4d65-b5f4-a18072db3f6e c11b3ecb-7c61-44d8-b799-4d3c181bddca 5 7748868 7748868 C A SNP ADCY2 NM_020546 human genbank 54_36p +1 reviewed silent c.873 p.I291 0.988 HMMSmart_CYCc,superfamily_A/G_cyclase,HMMPfam_Guanylate_cyc HMMSmart_CYCc,superfamily_A/G_cyclase,HMMPfam_Guanylate_cyc,PatternScan_GUANYLATE_CYCLASE_1,HMMPfam_DUF1053 - no_errors LOC100132243 0 genome.wustl.edu 36 X 9340015 9340015 + RNA SNP G G A novel unknown TCGA-61-1722-01A-01D-1556-09 TCGA-61-1722-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f789c98d-74dd-4d65-b5f4-a18072db3f6e c11b3ecb-7c61-44d8-b799-4d3c181bddca X 9340015 9340015 G A SNP LOC100132243 XR_037396 human genbank 54_36p +1 model rna NULL NULL 1.000 - - - pseudogene TTLL3 26140 genome.wustl.edu 36 3 9851893 9851893 + Nonsense_Mutation SNP C C A novel unknown TCGA-61-1722-01A-01D-1556-09 TCGA-61-1722-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f789c98d-74dd-4d65-b5f4-a18072db3f6e c11b3ecb-7c61-44d8-b799-4d3c181bddca 3 9851893 9851893 C A SNP TTLL3 NM_001025930 human genbank 54_36p +1 provisional nonsense c.2039 p.S680* 0.937 NULL HMMPfam_TTL,superfamily_Glutathione synthetase ATP-binding domain-like - no_errors PRRT3 285368 genome.wustl.edu 36 3 9965552 9965552 + Missense_Mutation SNP A A G novel unknown TCGA-61-1722-01A-01D-1556-09 TCGA-61-1722-11A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f789c98d-74dd-4d65-b5f4-a18072db3f6e c11b3ecb-7c61-44d8-b799-4d3c181bddca 3 9965552 9965552 A G SNP PRRT3 NM_207351 human genbank 54_36p -1 validated missense c.1061 p.V354A 1.000 NULL NULL - no_errors MYH8 4626 genome.wustl.edu 36 17 10263019 10263019 + Missense_Mutation SNP G G T novel unknown TCGA-61-1722-01A-01D-1556-09 TCGA-61-1722-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f789c98d-74dd-4d65-b5f4-a18072db3f6e c11b3ecb-7c61-44d8-b799-4d3c181bddca 17 10263019 10263019 G T SNP MYH8 NM_002472 human genbank 54_36p -1 validated missense c.264 p.D88E 1.000 superfamily_SSF52540,HMMSmart_MYSc HMMPfam_Myosin_N,superfamily_SSF52540,HMMSmart_MYSc,HMMPfam_Myosin_head,HMMSmart_IQ,HMMPfam_IQ,HMMPfam_Myosin_tail_1 - no_errors DNAH9 1770 genome.wustl.edu 36 17 11637555 11637555 + Missense_Mutation SNP T T C novel unknown TCGA-61-1722-01A-01D-1556-09 TCGA-61-1722-11A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f789c98d-74dd-4d65-b5f4-a18072db3f6e c11b3ecb-7c61-44d8-b799-4d3c181bddca 17 11637555 11637555 T C SNP DNAH9 NM_001372 human genbank 54_36p +1 reviewed missense c.8072 p.F2691S 1.000 superfamily_P-loop containing nucleoside triphosphate hydrolases HMMPfam_DHC_N1,superfamily_Spectrin repeat,HMMPfam_DHC_N2,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_AAA_5,HMMPfam_Dynein_heavy,PatternScan_CPSASE_2 - no_errors DDX1 1653 genome.wustl.edu 36 2 15670831 15670831 + Missense_Mutation SNP G G A novel unknown TCGA-61-1722-01A-01D-1556-09 TCGA-61-1722-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f789c98d-74dd-4d65-b5f4-a18072db3f6e c11b3ecb-7c61-44d8-b799-4d3c181bddca 2 15670831 15670831 G A SNP DDX1 NM_004939 human genbank 54_36p +1 reviewed missense c.989 p.R330Q 0.998 superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487,HMMPfam_DEAD superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487,HMMPfam_DEAD,HMMPfam_SPRY,HMMSmart_SM00449,HMMSmart_SM00490,HMMPfam_Helicase_C - no_errors MYO15A 51168 genome.wustl.edu 36 17 17963808 17963808 + Silent SNP G G A novel unknown TCGA-61-1722-01A-01D-1556-09 TCGA-61-1722-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f789c98d-74dd-4d65-b5f4-a18072db3f6e c11b3ecb-7c61-44d8-b799-4d3c181bddca 17 17963808 17963808 G A SNP MYO15A NM_016239 human genbank 54_36p +1 reviewed silent c.969 p.S323 0.000 NULL superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00242,HMMPfam_Myosin_head,HMMSmart_SM00015,HMMPfam_IQ,HMMSmart_SM00139,HMMPfam_MyTH4,superfamily_SH3-domain,HMMSmart_SM00326,HMMPfam_SH3_2,HMMSmart_SM00295,superfamily_Second domain of FERM,HMMPfam_FERM_M - no_errors CSRP2BP 57325 genome.wustl.edu 36 20 18079466 18079466 + Missense_Mutation SNP T T G novel unknown TCGA-61-1722-01A-01D-1556-09 TCGA-61-1722-11A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f789c98d-74dd-4d65-b5f4-a18072db3f6e c11b3ecb-7c61-44d8-b799-4d3c181bddca 20 18079466 18079466 T G SNP CSRP2BP NM_020536 human genbank 54_36p +1 reviewed missense c.380 p.V127G 1.000 NULL superfamily_Acyl_CoA_acyltransferase,HMMPfam_Acetyltransf_1 - no_errors LDHA 3939 genome.wustl.edu 36 11 18381930 18381930 + Missense_Mutation SNP G G C novel unknown TCGA-61-1722-01A-01D-1556-09 TCGA-61-1722-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f789c98d-74dd-4d65-b5f4-a18072db3f6e c11b3ecb-7c61-44d8-b799-4d3c181bddca 11 18381930 18381930 G C SNP LDHA NM_005566 human genbank 54_36p +1 reviewed missense c.706 p.E236Q 1.000 superfamily_LDH C-terminal domain-like,HMMPfam_Ldh_1_C superfamily_NAD(P)-binding Rossmann-fold domains,HMMPfam_Ldh_1_N,superfamily_LDH C-terminal domain-like,HMMPfam_Ldh_1_C,PatternScan_L_LDH - no_errors ZNF43 7594 genome.wustl.edu 36 19 21783060 21783060 + Missense_Mutation SNP C C G novel unknown TCGA-61-1722-01A-01D-1556-09 TCGA-61-1722-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f789c98d-74dd-4d65-b5f4-a18072db3f6e c11b3ecb-7c61-44d8-b799-4d3c181bddca 19 21783060 21783060 C G SNP ZNF43 NM_003423 human genbank 54_36p -1 validated missense c.1619 p.C540S 0.678 superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1 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 PYGB 5834 genome.wustl.edu 36 20 25209685 25209685 + Missense_Mutation SNP T T C novel unknown TCGA-61-1722-01A-01D-1556-09 TCGA-61-1722-11A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f789c98d-74dd-4d65-b5f4-a18072db3f6e c11b3ecb-7c61-44d8-b799-4d3c181bddca 20 25209685 25209685 T C SNP PYGB NM_002862 human genbank 54_36p +1 reviewed missense c.1340 p.V447A 0.991 superfamily_SSF53756,HMMPfam_Phosphorylase superfamily_SSF53756,HMMPfam_Phosphorylase,PatternScan_PHOSPHORYLASE - no_errors LRRC16A 55604 genome.wustl.edu 36 6 25708631 25708631 + Missense_Mutation SNP G G T novel unknown TCGA-61-1722-01A-01D-1556-09 TCGA-61-1722-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f789c98d-74dd-4d65-b5f4-a18072db3f6e c11b3ecb-7c61-44d8-b799-4d3c181bddca 6 25708631 25708631 G T SNP LRRC16A NM_017640 human genbank 54_36p +1 validated missense c.3230 p.R1077L 0.898 NULL superfamily_SSF52047 - no_errors ZNF184 7738 genome.wustl.edu 36 6 27527748 27527748 + Silent SNP A A C novel unknown TCGA-61-1722-01A-01D-1556-09 TCGA-61-1722-11A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f789c98d-74dd-4d65-b5f4-a18072db3f6e c11b3ecb-7c61-44d8-b799-4d3c181bddca 6 27527748 27527748 A C SNP ZNF184 NM_007149 human genbank 54_36p -1 validated silent c.1569 p.T523 0.009 superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1 superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355 - no_errors HIST1H2BM 8342 genome.wustl.edu 36 6 27891171 27891171 + Missense_Mutation SNP G G T novel unknown TCGA-61-1722-01A-01D-1556-09 TCGA-61-1722-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f789c98d-74dd-4d65-b5f4-a18072db3f6e c11b3ecb-7c61-44d8-b799-4d3c181bddca 6 27891171 27891171 G T SNP HIST1H2BM NM_003521 human genbank 54_36p +1 reviewed missense c.371 p.S124I 1.000 superfamily_Histone-fold,HMMSmart_H2B superfamily_Histone-fold,HMMSmart_H2B,HMMPfam_Histone,PatternScan_HISTONE_H2B - no_errors KRTAP13-1 140258 genome.wustl.edu 36 21 30690476 30690476 + Missense_Mutation SNP G G C novel unknown TCGA-61-1722-01A-01D-1556-09 TCGA-61-1722-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f789c98d-74dd-4d65-b5f4-a18072db3f6e c11b3ecb-7c61-44d8-b799-4d3c181bddca 21 30690476 30690476 G C SNP KRTAP13-1 NM_181599 human genbank 54_36p +1 validated missense c.201 p.Q67H 0.004 HMMPfam_PMG HMMPfam_PMG - no_errors SYN3 8224 genome.wustl.edu 36 22 31239769 31239769 + Silent SNP G G A novel unknown TCGA-61-1722-01A-01D-1556-09 TCGA-61-1722-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f789c98d-74dd-4d65-b5f4-a18072db3f6e c11b3ecb-7c61-44d8-b799-4d3c181bddca 22 31239769 31239769 G A SNP SYN3 NM_003490 human genbank 54_36p -1 reviewed silent c.1653 p.T551 0.826 NULL HMMPfam_Synapsin_N,PatternScan_SYNAPSIN_1,HMMPfam_Synapsin,superfamily_PreATP-grasp domain,superfamily_Glutathione synthetase ATP-binding domain-like,HMMPfam_Synapsin_C,PatternScan_SYNAPSIN_2 - no_errors SLC26A8 116369 genome.wustl.edu 36 6 36035325 36035325 + Missense_Mutation SNP G G C novel unknown TCGA-61-1722-01A-01D-1556-09 TCGA-61-1722-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f789c98d-74dd-4d65-b5f4-a18072db3f6e c11b3ecb-7c61-44d8-b799-4d3c181bddca 6 36035325 36035325 G C SNP SLC26A8 NM_052961 human genbank 54_36p -1 reviewed missense c.1753 p.L585V 0.516 HMMPfam_STAS,superfamily_Anti-sigma factor antagonist SpoIIaa HMMPfam_Sulfate_transp,HMMPfam_STAS,superfamily_Anti-sigma factor antagonist SpoIIaa - no_errors THBS1 7057 genome.wustl.edu 36 15 37673645 37673645 + Silent SNP C C T novel unknown TCGA-61-1722-01A-01D-1556-09 TCGA-61-1722-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f789c98d-74dd-4d65-b5f4-a18072db3f6e c11b3ecb-7c61-44d8-b799-4d3c181bddca 15 37673645 37673645 C T SNP THBS1 NM_003246 human genbank 54_36p +1 reviewed silent c.3321 p.A1107 0.998 superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_TSP_C HMMSmart_SM00210,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_VWC,HMMSmart_SM00214,PatternScan_VWFC_1,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,HMMSmart_SM00179,superfamily_EGF/Laminin,HMMSmart_SM00181,HMMPfam_EGF,PatternScan_EGF_2,superfamily_TSP type-3 repeat,HMMPfam_TSP_3,HMMPfam_TSP_C - no_errors SLC7A9 11136 genome.wustl.edu 36 19 38047502 38047502 + Silent SNP G G A novel unknown TCGA-61-1722-01A-01D-1556-09 TCGA-61-1722-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f789c98d-74dd-4d65-b5f4-a18072db3f6e c11b3ecb-7c61-44d8-b799-4d3c181bddca 19 38047502 38047502 G A SNP SLC7A9 NM_014270 human genbank 54_36p -1 reviewed silent c.108 p.I36 1.000 HMMPfam_AA_permease HMMPfam_AA_permease - no_errors WHSC1L1 54904 genome.wustl.edu 36 8 38266113 38266113 + Silent SNP C C T novel unknown TCGA-61-1722-01A-01D-1556-09 TCGA-61-1722-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f789c98d-74dd-4d65-b5f4-a18072db3f6e c11b3ecb-7c61-44d8-b799-4d3c181bddca 8 38266113 38266113 C T SNP WHSC1L1 NM_023034 human genbank 54_36p -1 reviewed silent c.3186 p.E1062 0.979 superfamily_SET domain superfamily_Tudor/PWWP/MBT,HMMPfam_PWWP,HMMSmart_SM00293,superfamily_FYVE/PHD zinc finger,HMMSmart_SM00249,HMMPfam_PHD,PatternScan_ZF_PHD_1,superfamily_SET domain,HMMSmart_SM00570,HMMPfam_SET,HMMSmart_SM00317,HMMSmart_SM00508 - no_errors PIAS2 9063 genome.wustl.edu 36 18 42654986 42654986 + Missense_Mutation SNP G G A novel unknown TCGA-61-1722-01A-01D-1556-09 TCGA-61-1722-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f789c98d-74dd-4d65-b5f4-a18072db3f6e c11b3ecb-7c61-44d8-b799-4d3c181bddca 18 42654986 42654986 G A SNP PIAS2 NM_004671 human genbank 54_36p -1 validated missense c.1556 p.S519L 1.000 NULL HMMPfam_SAP,HMMSmart_SM00513,superfamily_RING/U-box,HMMPfam_zf-MIZ - no_errors ZNF571 51276 genome.wustl.edu 36 19 42747928 42747928 + Silent SNP G G A novel unknown TCGA-61-1722-01A-01D-1556-09 TCGA-61-1722-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f789c98d-74dd-4d65-b5f4-a18072db3f6e c11b3ecb-7c61-44d8-b799-4d3c181bddca 19 42747928 42747928 G A SNP ZNF571 NM_016536 human genbank 54_36p -1 validated silent c.1242 p.T414 0.134 superfamily_SSF57667 superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1 - no_errors ENSG00000214820 0 genome.wustl.edu 36 3 44597075 44597075 + Missense_Mutation SNP G G A novel unknown TCGA-61-1722-01A-01D-1556-09 TCGA-61-1722-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f789c98d-74dd-4d65-b5f4-a18072db3f6e c11b3ecb-7c61-44d8-b799-4d3c181bddca 3 44597075 44597075 G A SNP ENSG00000214820 ENST00000399045 human ensembl 54_36p -1 known missense c.436 p.R146W 0.999 superfamily_SSF50729,HMMSmart_PH superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH - no_start_codon:no_stop_codon OR4C13 283092 genome.wustl.edu 36 11 49931107 49931107 + Missense_Mutation SNP C C T novel unknown TCGA-61-1722-01A-01D-1556-09 TCGA-61-1722-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f789c98d-74dd-4d65-b5f4-a18072db3f6e c11b3ecb-7c61-44d8-b799-4d3c181bddca 11 49931107 49931107 C T SNP OR4C13 NM_001001955 human genbank 54_36p +1 provisional missense c.557 p.A186V 0.997 superfamily_SSF81321,HMMPfam_7tm_1 PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1 - no_errors NTF6B 0 genome.wustl.edu 36 19 54233818 54233818 + Silent SNP A A G novel unknown TCGA-61-1722-01A-01D-1556-09 TCGA-61-1722-11A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f789c98d-74dd-4d65-b5f4-a18072db3f6e c11b3ecb-7c61-44d8-b799-4d3c181bddca 19 54233818 54233818 A G SNP NTF6B ENST00000391533 human ensembl 54_36p -1 known silent c.504 p.G168 0.281 superfamily_SSF57501,HMMPfam_NGF,HMMSmart_NGF superfamily_SSF57501,HMMPfam_NGF,HMMSmart_NGF - no_start_codon CDH26 60437 genome.wustl.edu 36 20 57996011 57996011 + Silent SNP T T C novel unknown TCGA-61-1722-01A-01D-1556-09 TCGA-61-1722-11A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f789c98d-74dd-4d65-b5f4-a18072db3f6e c11b3ecb-7c61-44d8-b799-4d3c181bddca 20 57996011 57996011 T C SNP CDH26 NM_177980 human genbank 54_36p +1 reviewed silent c.946 p.L316 0.000 superfamily_Cadherin,HMMPfam_Cadherin,HMMSmart_CA superfamily_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,HMMPfam_Cadherin - no_errors DTX4 23220 genome.wustl.edu 36 11 58706228 58706228 + Missense_Mutation SNP C C G novel unknown TCGA-61-1722-01A-01D-1556-09 TCGA-61-1722-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f789c98d-74dd-4d65-b5f4-a18072db3f6e c11b3ecb-7c61-44d8-b799-4d3c181bddca 11 58706228 58706228 C G SNP DTX4 NM_015177 human genbank 54_36p +1 validated missense c.652 p.R218G 0.536 NULL HMMPfam_WWE,HMMSmart_SM00678,superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4 - no_errors UBXN1 51035 genome.wustl.edu 36 11 62200868 62200868 + Missense_Mutation SNP C C A novel unknown TCGA-61-1722-01A-01D-1556-09 TCGA-61-1722-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f789c98d-74dd-4d65-b5f4-a18072db3f6e c11b3ecb-7c61-44d8-b799-4d3c181bddca 11 62200868 62200868 C A SNP UBXN1 NM_015853 human genbank 54_36p -1 provisional missense c.837 p.Q279H 1.000 superfamily_SSF54236,HMMSmart_UBX,HMMPfam_UBX HMMPfam_UBA,HMMSmart_UBA,superfamily_UBA_like,superfamily_SSF54236,HMMSmart_UBX,HMMPfam_UBX - no_errors ZBTB3 79842 genome.wustl.edu 36 11 62276598 62276598 + Missense_Mutation SNP G G T novel unknown TCGA-61-1722-01A-01D-1556-09 TCGA-61-1722-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f789c98d-74dd-4d65-b5f4-a18072db3f6e c11b3ecb-7c61-44d8-b799-4d3c181bddca 11 62276598 62276598 G T SNP ZBTB3 NM_024784 human genbank 54_36p -1 validated missense c.1265 p.P422H 0.964 NULL superfamily_BTB/POZ_fold,HMMPfam_BTB,HMMSmart_BTB,superfamily_SSF57667,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-C2H2 - no_errors MTMR8 55613 genome.wustl.edu 36 X 63492838 63492838 + Missense_Mutation SNP C C G novel unknown TCGA-61-1722-01A-01D-1556-09 TCGA-61-1722-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f789c98d-74dd-4d65-b5f4-a18072db3f6e c11b3ecb-7c61-44d8-b799-4d3c181bddca X 63492838 63492838 C G SNP MTMR8 NM_017677 human genbank 54_36p -1 provisional missense c.253 p.D85H 0.004 superfamily_PH domain-like superfamily_PH domain-like,superfamily_(Phosphotyrosine protein) phosphatases II,HMMPfam_Myotub-related,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1 - no_errors SYNE2 23224 genome.wustl.edu 36 14 63656075 63656075 + Missense_Mutation SNP G G T novel unknown TCGA-61-1722-01A-01D-1556-09 TCGA-61-1722-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f789c98d-74dd-4d65-b5f4-a18072db3f6e c11b3ecb-7c61-44d8-b799-4d3c181bddca 14 63656075 63656075 G T SNP SYNE2 NM_182914 human genbank 54_36p +1 validated missense c.13018 p.D4340Y 0.996 NULL superfamily_Calponin-homology,HMMPfam_CH,PatternScan_ACTININ_1,HMMSmart_CH,PatternScan_ACTININ_2,superfamily_Spectrin,HMMSmart_SPEC,HMMPfam_Spectrin,superfamily_4_helix_cytokine,HMMPfam_KASH - no_errors LOC202227 202227 genome.wustl.edu 36 5 65904255 65904255 + RNA SNP C C T novel unknown TCGA-61-1722-01A-01D-1556-09 TCGA-61-1722-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f789c98d-74dd-4d65-b5f4-a18072db3f6e c11b3ecb-7c61-44d8-b799-4d3c181bddca 5 65904255 65904255 C T SNP LOC202227 XR_016767 human genbank 54_36p +1 model rna NULL NULL 0.911 - - - pseudogene IL26 55801 genome.wustl.edu 36 12 66881976 66881976 + Missense_Mutation SNP A A C novel unknown TCGA-61-1722-01A-01D-1556-09 TCGA-61-1722-11A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f789c98d-74dd-4d65-b5f4-a18072db3f6e c11b3ecb-7c61-44d8-b799-4d3c181bddca 12 66881976 66881976 A C SNP IL26 NM_018402 human genbank 54_36p -1 reviewed missense c.432 p.I144M 1.000 superfamily_4_helix_cytokine,HMMSmart_IL10,HMMPfam_IL10 superfamily_4_helix_cytokine,HMMSmart_IL10,PatternScan_INTERLEUKIN_10,HMMPfam_IL10 - no_errors PLEKHH1 57475 genome.wustl.edu 36 14 67123646 67123646 + Missense_Mutation SNP G G A novel unknown TCGA-61-1722-01A-01D-1556-09 TCGA-61-1722-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f789c98d-74dd-4d65-b5f4-a18072db3f6e c11b3ecb-7c61-44d8-b799-4d3c181bddca 14 67123646 67123646 G A SNP PLEKHH1 NM_020715 human genbank 54_36p +1 validated missense c.4036 p.D1346N 0.997 NULL superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,HMMSmart_SM00139,HMMPfam_MyTH4,HMMSmart_SM00295,superfamily_Second domain of FERM,HMMPfam_FERM_M - no_errors DGAT2L6 347516 genome.wustl.edu 36 X 69341675 69341675 + Missense_Mutation SNP T T G novel unknown TCGA-61-1722-01A-01D-1556-09 TCGA-61-1722-11A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f789c98d-74dd-4d65-b5f4-a18072db3f6e c11b3ecb-7c61-44d8-b799-4d3c181bddca X 69341675 69341675 T G SNP DGAT2L6 NM_198512 human genbank 54_36p +1 provisional missense c.1008 p.I336M 0.123 HMMPfam_DAGAT HMMPfam_DAGAT - no_errors HYDIN 54768 genome.wustl.edu 36 16 69495039 69495039 + Silent SNP A A G novel unknown TCGA-61-1722-01A-01D-1556-09 TCGA-61-1722-11A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f789c98d-74dd-4d65-b5f4-a18072db3f6e c11b3ecb-7c61-44d8-b799-4d3c181bddca 16 69495039 69495039 A G SNP HYDIN NM_032821 human genbank 54_36p -1 validated silent c.8836 p.L2946 0.999 NULL superfamily_PapD-like,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors SDAD1 55153 genome.wustl.edu 36 4 77097796 77097796 + Missense_Mutation SNP G G T novel unknown TCGA-61-1722-01A-01D-1556-09 TCGA-61-1722-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f789c98d-74dd-4d65-b5f4-a18072db3f6e c11b3ecb-7c61-44d8-b799-4d3c181bddca 4 77097796 77097796 G T SNP SDAD1 NM_018115 human genbank 54_36p -1 validated missense c.1668 p.F556L 1.000 HMMPfam_SDA1 superfamily_ARM repeat,HMMPfam_NUC130_3NT,HMMPfam_SDA1 - no_errors SEC31A 22872 genome.wustl.edu 36 4 83995101 83995101 + Missense_Mutation SNP C C T novel unknown TCGA-61-1722-01A-01D-1556-09 TCGA-61-1722-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f789c98d-74dd-4d65-b5f4-a18072db3f6e c11b3ecb-7c61-44d8-b799-4d3c181bddca 4 83995101 83995101 C T SNP SEC31A NM_001077207 human genbank 54_36p -1 reviewed missense c.1987 p.D663N 1.000 NULL superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40 - no_errors SEMA3D 223117 genome.wustl.edu 36 7 84509518 84509518 + Missense_Mutation SNP C C T novel unknown TCGA-61-1722-01A-01D-1556-09 TCGA-61-1722-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f789c98d-74dd-4d65-b5f4-a18072db3f6e c11b3ecb-7c61-44d8-b799-4d3c181bddca 7 84509518 84509518 C T SNP SEMA3D NM_152754 human genbank 54_36p -1 validated missense c.881 p.R294H 1.000 superfamily_Sema,HMMPfam_Sema,HMMSmart_Sema superfamily_Sema,HMMPfam_Sema,HMMSmart_Sema,HMMPfam_PSI,HMMSmart_PSI,superfamily_Plexin-like_fold,HMMPfam_V-set,superfamily_SSF48726,HMMSmart_IG - no_errors TTC37 9652 genome.wustl.edu 36 5 94831254 94831254 + Silent SNP G G C novel unknown TCGA-61-1722-01A-01D-1556-09 TCGA-61-1722-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f789c98d-74dd-4d65-b5f4-a18072db3f6e c11b3ecb-7c61-44d8-b799-4d3c181bddca 5 94831254 94831254 G C SNP TTC37 NM_014639 human genbank 54_36p -1 provisional silent c.4482 p.R1494 0.988 NULL HMMSmart_TPR,superfamily_SSF48452,HMMPfam_TPR_1,superfamily_Prenyl_trans,HMMPfam_Sel1,HMMSmart_SEL1 - no_errors TMTC4 84899 genome.wustl.edu 36 13 100085147 100085147 + Silent SNP C C T novel unknown TCGA-61-1722-01A-01D-1556-09 TCGA-61-1722-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f789c98d-74dd-4d65-b5f4-a18072db3f6e c11b3ecb-7c61-44d8-b799-4d3c181bddca 13 100085147 100085147 C T SNP TMTC4 NM_032813 human genbank 54_36p -1 validated silent c.1419 p.T473 0.385 superfamily_TPR-like HMMPfam_DUF1736,superfamily_TPR-like,HMMPfam_TPR_2,HMMSmart_SM00028,HMMPfam_TPR_1 - no_errors CUX1 1523 genome.wustl.edu 36 7 101631684 101631684 + Missense_Mutation SNP C C A novel unknown TCGA-61-1722-01A-01D-1556-09 TCGA-61-1722-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f789c98d-74dd-4d65-b5f4-a18072db3f6e c11b3ecb-7c61-44d8-b799-4d3c181bddca 7 101631684 101631684 C A SNP CUX1 NM_181552 human genbank 54_36p +1 reviewed missense c.2387 p.P796H 0.870 NULL superfamily_lambda repressor-like DNA-binding domains,HMMPfam_CUT,superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1 - no_errors CUX1 1523 genome.wustl.edu 36 7 101669490 101669490 + Nonsense_Mutation SNP C C T novel unknown TCGA-61-1722-01A-01D-1556-09 TCGA-61-1722-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f789c98d-74dd-4d65-b5f4-a18072db3f6e c11b3ecb-7c61-44d8-b799-4d3c181bddca 7 101669490 101669490 C T SNP CUX1 NM_181552 human genbank 54_36p +1 reviewed nonsense c.3793 p.Q1265* 1.000 HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like HMMPfam_Homeobox,HMMSmart_SM00389,HMMPfam_CUT,superfamily_Homeodomain-like,superfamily_lambda repressor-like DNA-binding domains,PatternScan_HOMEOBOX_1 - no_errors PDCD11 22984 genome.wustl.edu 36 10 105192051 105192051 + Missense_Mutation SNP G G A novel unknown TCGA-61-1722-01A-01D-1556-09 TCGA-61-1722-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f789c98d-74dd-4d65-b5f4-a18072db3f6e c11b3ecb-7c61-44d8-b799-4d3c181bddca 10 105192051 105192051 G A SNP PDCD11 NM_014976 human genbank 54_36p +1 validated missense c.4799 p.R1600Q 0.949 superfamily_SSF48452,HMMSmart_HAT superfamily_Nucleic_acid_OB,HMMSmart_S1,HMMPfam_S1,superfamily_SSF48452,HMMSmart_HAT - no_errors FAM155A 728215 genome.wustl.edu 36 13 107316301 107316301 + Silent SNP G G C novel unknown TCGA-61-1722-01A-01D-1556-09 TCGA-61-1722-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f789c98d-74dd-4d65-b5f4-a18072db3f6e c11b3ecb-7c61-44d8-b799-4d3c181bddca 13 107316301 107316301 G C SNP FAM155A NM_001080396 human genbank 54_36p -1 provisional silent c.645 p.L215 0.992 NULL NULL - no_errors KIF12 113220 genome.wustl.edu 36 9 115894004 115894004 + Silent SNP A A G novel unknown TCGA-61-1722-01A-01D-1556-09 TCGA-61-1722-11A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f789c98d-74dd-4d65-b5f4-a18072db3f6e c11b3ecb-7c61-44d8-b799-4d3c181bddca 9 115894004 115894004 A G SNP KIF12 NM_138424 human genbank 54_36p -1 provisional silent c.1500 p.S500 0.000 NULL HMMPfam_Kinesin,superfamily_SSF52540,HMMSmart_KISc,PatternScan_KINESIN_MOTOR_DOMAIN1 - no_errors WDR66 144406 genome.wustl.edu 36 12 120843912 120843912 + Silent SNP C C A novel unknown TCGA-61-1722-01A-01D-1556-09 TCGA-61-1722-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f789c98d-74dd-4d65-b5f4-a18072db3f6e c11b3ecb-7c61-44d8-b799-4d3c181bddca 12 120843912 120843912 C A SNP WDR66 NM_144668 human genbank 54_36p +1 validated silent c.318 p.S106 0.001 superfamily_WD40 repeat-like superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40,superfamily_EF-hand - no_errors GRAMD1B 57476 genome.wustl.edu 36 11 122982568 122982568 + Silent SNP C C T novel unknown TCGA-61-1722-01A-01D-1556-09 TCGA-61-1722-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f789c98d-74dd-4d65-b5f4-a18072db3f6e c11b3ecb-7c61-44d8-b799-4d3c181bddca 11 122982568 122982568 C T SNP GRAMD1B NM_020716 human genbank 54_36p +1 validated silent c.936 p.D312 0.938 NULL HMMPfam_GRAM,HMMSmart_SM00568 - no_errors ROPN1 54763 genome.wustl.edu 36 3 125178506 125178506 + Silent SNP G G C novel unknown TCGA-61-1722-01A-01D-1556-09 TCGA-61-1722-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f789c98d-74dd-4d65-b5f4-a18072db3f6e c11b3ecb-7c61-44d8-b799-4d3c181bddca 3 125178506 125178506 G C SNP ROPN1 NM_017578 human genbank 54_36p -1 provisional silent c.129 p.A43 0.998 superfamily_Dimerization-anchoring domain of cAMP-dependent type II PK regulatory subunit,HMMPfam_RIIa superfamily_Dimerization-anchoring domain of cAMP-dependent type II PK regulatory subunit,HMMPfam_RIIa - no_errors WDR40B 139170 genome.wustl.edu 36 X 125513676 125513676 + Silent SNP G G T novel unknown TCGA-61-1722-01A-01D-1556-09 TCGA-61-1722-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f789c98d-74dd-4d65-b5f4-a18072db3f6e c11b3ecb-7c61-44d8-b799-4d3c181bddca X 125513676 125513676 G T SNP WDR40B NM_178470 human genbank 54_36p -1 reviewed silent c.597 p.A199 0.925 superfamily_WD40_like,HMMSmart_WD40,HMMPfam_WD40 PatternScan_WD_REPEATS_1,superfamily_WD40_like,HMMSmart_WD40,HMMPfam_WD40 - no_errors RNF146 81847 genome.wustl.edu 36 6 127650041 127650041 + Missense_Mutation SNP C C T novel unknown TCGA-61-1722-01A-01D-1556-09 TCGA-61-1722-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f789c98d-74dd-4d65-b5f4-a18072db3f6e c11b3ecb-7c61-44d8-b799-4d3c181bddca 6 127650041 127650041 C T SNP RNF146 NM_030963 human genbank 54_36p +1 provisional missense c.587 p.S196F 1.000 NULL superfamily_SSF57850,HMMSmart_RING,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1,HMMPfam_WWE,HMMSmart_WWE - no_errors KRT18P44 139748 genome.wustl.edu 36 X 127676701 127676701 + Silent SNP C C T novel unknown TCGA-61-1722-01A-01D-1556-09 TCGA-61-1722-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f789c98d-74dd-4d65-b5f4-a18072db3f6e c11b3ecb-7c61-44d8-b799-4d3c181bddca X 127676701 127676701 C T SNP KRT18P44 XM_001719134 human genbank 54_36p +1 model silent c.1002 p.S334 1.000 HMMPfam_Filament HMMPfam_Filament - pseudogene BCORL1 63035 genome.wustl.edu 36 X 128976317 128976317 + Missense_Mutation SNP C C T novel unknown TCGA-61-1722-01A-01D-1556-09 TCGA-61-1722-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f789c98d-74dd-4d65-b5f4-a18072db3f6e c11b3ecb-7c61-44d8-b799-4d3c181bddca X 128976317 128976317 C T SNP BCORL1 NM_021946 human genbank 54_36p +1 validated missense c.1888 p.R630C 1.000 NULL superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank - no_errors ASB6 140459 genome.wustl.edu 36 9 131439990 131439990 + Missense_Mutation SNP G G A novel unknown TCGA-61-1722-01A-01D-1556-09 TCGA-61-1722-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f789c98d-74dd-4d65-b5f4-a18072db3f6e c11b3ecb-7c61-44d8-b799-4d3c181bddca 9 131439990 131439990 G A SNP ASB6 NM_017873 human genbank 54_36p -1 reviewed missense c.1166 p.P389L 1.000 HMMSmart_SM00253,HMMPfam_SOCS_box superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank,HMMSmart_SM00253,HMMPfam_SOCS_box - no_errors GPR112 139378 genome.wustl.edu 36 X 135259511 135259511 + Missense_Mutation SNP G G A novel unknown TCGA-61-1722-01A-01D-1556-09 TCGA-61-1722-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f789c98d-74dd-4d65-b5f4-a18072db3f6e c11b3ecb-7c61-44d8-b799-4d3c181bddca X 135259511 135259511 G A SNP GPR112 NM_153834 human genbank 54_36p +1 validated missense c.5980 p.G1994S 0.030 NULL superfamily_ConA_like_lec_gl,HMMPfam_GPS,HMMSmart_GPS,HMMPfam_7tm_2,PatternScan_G_PROTEIN_RECEP_F2_2 - no_errors SERAC1 84947 genome.wustl.edu 36 6 158458820 158458820 + Missense_Mutation SNP G G C novel unknown TCGA-61-1722-01A-01D-1556-09 TCGA-61-1722-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f789c98d-74dd-4d65-b5f4-a18072db3f6e c11b3ecb-7c61-44d8-b799-4d3c181bddca 6 158458820 158458820 G C SNP SERAC1 NM_032861 human genbank 54_36p -1 provisional missense c.1330 p.P444A 1.000 superfamily_alpha/beta-Hydrolases superfamily_ARM repeat,superfamily_alpha/beta-Hydrolases - no_errors EZR 7430 genome.wustl.edu 36 6 159108332 159108332 + Missense_Mutation SNP C C G novel unknown TCGA-61-1722-01A-01D-1556-09 TCGA-61-1722-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f789c98d-74dd-4d65-b5f4-a18072db3f6e c11b3ecb-7c61-44d8-b799-4d3c181bddca 6 159108332 159108332 C G SNP EZR NM_003379 human genbank 54_36p -1 reviewed missense c.1545 p.E515D 1.000 HMMPfam_ERM,superfamily_Moesin HMMSmart_B41,superfamily_SSF54236,HMMPfam_FERM_N,PatternScan_FERM_1,superfamily_FERM_3-hlx,HMMPfam_FERM_M,PatternScan_FERM_2,superfamily_SSF50729,HMMPfam_FERM_C,HMMPfam_ERM,superfamily_Moesin - no_errors F5 2153 genome.wustl.edu 36 1 167778474 167778474 + Missense_Mutation SNP C C G novel unknown TCGA-61-1722-01A-01D-1556-09 TCGA-61-1722-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f789c98d-74dd-4d65-b5f4-a18072db3f6e c11b3ecb-7c61-44d8-b799-4d3c181bddca 1 167778474 167778474 C G SNP F5 NM_000130 human genbank 54_36p -1 reviewed missense c.2478 p.E826D 0.001 NULL superfamily_Cupredoxins,HMMPfam_Cu-oxidase_3,PatternScan_MULTICOPPER_OXIDASE1,HMMPfam_LSPR,superfamily_Galactose-binding domain-like,HMMSmart_SM00231,HMMPfam_F5_F8_type_C,PatternScan_FA58C_1,PatternScan_FA58C_2 - no_errors THBS2 7058 genome.wustl.edu 36 6 169365388 169365388 + Missense_Mutation SNP T T C novel unknown TCGA-61-1722-01A-01D-1556-09 TCGA-61-1722-11A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f789c98d-74dd-4d65-b5f4-a18072db3f6e c11b3ecb-7c61-44d8-b799-4d3c181bddca 6 169365388 169365388 T C SNP THBS2 NM_003247 human genbank 54_36p -1 reviewed missense c.2881 p.N961D 1.000 superfamily_ConA_like_lec_gl PatternScan_EGF_1,HMMSmart_TSPN,superfamily_ConA_like_lec_gl,HMMPfam_VWC,HMMSmart_VWC,PatternScan_VWFC_1,superfamily_TSP1,HMMSmart_TSP1,HMMPfam_TSP_1,superfamily_SSF57196,HMMSmart_EGF,HMMPfam_EGF_CA,HMMPfam_EGF,PatternScan_EGF_2,superfamily_SSF103647,HMMPfam_TSP_3,HMMPfam_TSP_C - no_errors TNIK 23043 genome.wustl.edu 36 3 172287863 172287863 + Missense_Mutation SNP C C T novel unknown TCGA-61-1722-01A-01D-1556-09 TCGA-61-1722-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f789c98d-74dd-4d65-b5f4-a18072db3f6e c11b3ecb-7c61-44d8-b799-4d3c181bddca 3 172287863 172287863 C T SNP TNIK NM_015028 human genbank 54_36p -1 provisional missense c.2848 p.V950I 0.886 NULL superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST,HMMSmart_SM00036,HMMPfam_CNH - no_errors TTN 7273 genome.wustl.edu 36 2 179355373 179355373 + Missense_Mutation SNP A A T novel unknown TCGA-61-1722-01A-01D-1556-09 TCGA-61-1722-11A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f789c98d-74dd-4d65-b5f4-a18072db3f6e c11b3ecb-7c61-44d8-b799-4d3c181bddca 2 179355373 179355373 A T SNP TTN NM_133379 human genbank 54_36p -1 reviewed missense c.3191 p.M1064K 0.957 NULL superfamily_SSF48726,HMMPfam_I-set,HMMSmart_IGc2,HMMSmart_IG,HMMPfam_Titin_Z,HMMPfam_ig,PatternScan_IG_MHC,PatternScan_THIOL_PROTEASE_HIS - no_errors LOC344328 344328 genome.wustl.edu 36 2 188398371 188398371 + RNA SNP C C T novel unknown TCGA-61-1722-01A-01D-1556-09 TCGA-61-1722-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f789c98d-74dd-4d65-b5f4-a18072db3f6e c11b3ecb-7c61-44d8-b799-4d3c181bddca 2 188398371 188398371 C T SNP LOC344328 XR_017370 human genbank 54_36p +1 model rna NULL NULL 0.910 - - - pseudogene MUC4 4585 genome.wustl.edu 36 3 196996607 196996607 + Missense_Mutation SNP G G T novel unknown TCGA-61-1722-01A-01D-1556-09 TCGA-61-1722-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f789c98d-74dd-4d65-b5f4-a18072db3f6e c11b3ecb-7c61-44d8-b799-4d3c181bddca 3 196996607 196996607 G T SNP MUC4 ENST00000405167 human ensembl 54_36p -1 known missense c.6239 p.P2080H 0.041 NULL HMMSmart_SM00539,HMMPfam_NIDO,PatternScan_SUGAR_TRANSPORT_2,HMMSmart_SM00723,HMMPfam_AMOP,HMMSmart_SM00216,HMMPfam_VWD,PatternScan_EGF_1,HMMSmart_SM00181,superfamily_EGF/Laminin - no_errors LOC730978 730978 genome.wustl.edu 36 1 222203862 222203862 + RNA SNP A A G novel unknown TCGA-61-1722-01A-01D-1556-09 TCGA-61-1722-11A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f789c98d-74dd-4d65-b5f4-a18072db3f6e c11b3ecb-7c61-44d8-b799-4d3c181bddca 1 222203862 222203862 A G SNP LOC730978 XR_037258 human genbank 54_36p +1 model rna NULL NULL 0.999 - - - pseudogene PARP1 142 genome.wustl.edu 36 1 224618370 224618370 + Missense_Mutation SNP T T C novel unknown TCGA-61-1722-01A-01D-1556-09 TCGA-61-1722-11A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f789c98d-74dd-4d65-b5f4-a18072db3f6e c11b3ecb-7c61-44d8-b799-4d3c181bddca 1 224618370 224618370 T C SNP PARP1 NM_001618 human genbank 54_36p -1 reviewed missense c.2683 p.I895V 0.998 HMMPfam_PARP,superfamily_ADP-ribosylation superfamily_Glucocorticoid receptor-like (DNA-binding domain),HMMPfam_zf-PARP,PatternScan_PARP_ZN_FINGER_1,HMMPfam_PADR1,superfamily_BRCT domain,HMMPfam_BRCT,HMMSmart_SM00292,HMMPfam_WGR,HMMSmart_SM00773,HMMPfam_PARP_reg,superfamily_Domain of poly(ADP-ribose) polymerase,HMMPfam_PARP,superfamily_ADP-ribosylation - no_errors OBSCN 84033 genome.wustl.edu 36 1 226514010 226514010 + Missense_Mutation SNP C C G novel unknown TCGA-61-1722-01A-01D-1556-09 TCGA-61-1722-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f789c98d-74dd-4d65-b5f4-a18072db3f6e c11b3ecb-7c61-44d8-b799-4d3c181bddca 1 226514010 226514010 C G SNP OBSCN ENST00000359599 human ensembl 54_36p +1 known missense c.4771 p.L1591V 1.000 superfamily_SSF48726,HMMSmart_IG,HMMPfam_ig superfamily_SSF48726,HMMPfam_I-set,HMMSmart_IGc2,HMMSmart_IG,HMMPfam_ig,superfamily_FN_III-like,HMMSmart_FN3,HMMPfam_fn3 - no_stop_codon CHRM3 1131 genome.wustl.edu 36 1 238137883 238137883 + Missense_Mutation SNP T T A novel unknown TCGA-61-1722-01A-01D-1556-09 TCGA-61-1722-11A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f789c98d-74dd-4d65-b5f4-a18072db3f6e c11b3ecb-7c61-44d8-b799-4d3c181bddca 1 238137883 238137883 T A SNP CHRM3 NM_000740 human genbank 54_36p +1 reviewed missense c.509 p.I170N 1.000 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors WDR64 128025 genome.wustl.edu 36 1 239971501 239971501 + Missense_Mutation SNP C C G novel unknown TCGA-61-1722-01A-01D-1556-09 TCGA-61-1722-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f789c98d-74dd-4d65-b5f4-a18072db3f6e c11b3ecb-7c61-44d8-b799-4d3c181bddca 1 239971501 239971501 C G SNP WDR64 NM_144625 human genbank 54_36p +1 validated missense c.512 p.P171R 1.000 superfamily_WD40 repeat-like,HMMSmart_SM00320 superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40 - no_errors ANKMY1 51281 genome.wustl.edu 36 2 241097526 241097526 + Missense_Mutation SNP C C T novel unknown TCGA-61-1722-01A-01D-1556-09 TCGA-61-1722-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f789c98d-74dd-4d65-b5f4-a18072db3f6e c11b3ecb-7c61-44d8-b799-4d3c181bddca 2 241097526 241097526 C T SNP ANKMY1 NM_016552 human genbank 54_36p -1 validated missense c.2039 p.R680Q 0.429 superfamily_Ankyrin repeat,HMMPfam_Ank,HMMSmart_SM00248 HMMSmart_SM00698,HMMPfam_MORN,superfamily_Histone H3 K4-specific methyltransferase SET7/9 N-terminal domain,PatternScan_WW_DOMAIN_1,superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank,HMMPfam_zf-MYND,PatternScan_ZF_MYND_1 - no_errors AHCTF1 25909 genome.wustl.edu 36 1 245106109 245106109 + Missense_Mutation SNP C C G novel unknown TCGA-61-1722-01A-01D-1556-09 TCGA-61-1722-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f789c98d-74dd-4d65-b5f4-a18072db3f6e c11b3ecb-7c61-44d8-b799-4d3c181bddca 1 245106109 245106109 C G SNP AHCTF1 NM_015446 human genbank 54_36p -1 validated missense c.2941 p.D981H 1.000 NULL PatternScan_TUBULIN_B_AUTOREG,HMMPfam_AT_hook,HMMSmart_AT_hook - no_errors