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 CSF2RA 1438 genome.wustl.edu 36 X 1364673 1364673 + Silent SNP C C T novel unknown TCGA-29-1785-01A-01W-0633-09 TCGA-29-1785-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d4ad0ff7-92fa-4c79-9e83-4408f8da83da a7dc1312-038d-49bb-b3e4-d52e0d09e4d8 X 1364673 1364673 C T SNP CSF2RA NM_006140 human genbank 54_36p +1 reviewed silent c.79 p.L27 0.005 NULL superfamily_Fibronectin type III,HMMPfam_Haemat_rec_S_F2,PatternScan_HEMATOPO_REC_S_F2 - no_errors KCNQ1 3784 genome.wustl.edu 36 11 2639801 2639801 + Missense_Mutation SNP G G T novel unknown TCGA-29-1785-01A-01W-0633-09 TCGA-29-1785-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d4ad0ff7-92fa-4c79-9e83-4408f8da83da a7dc1312-038d-49bb-b3e4-d52e0d09e4d8 11 2639801 2639801 G T SNP KCNQ1 NM_000218 human genbank 54_36p +1 reviewed missense c.1428 p.M476I 0.000 HMMPfam_KCNQ_channel superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans,HMMPfam_KCNQ_channel - no_errors PPL 5493 genome.wustl.edu 36 16 4875030 4875030 + Silent SNP G G C novel unknown TCGA-29-1785-01A-01W-0633-09 TCGA-29-1785-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d4ad0ff7-92fa-4c79-9e83-4408f8da83da a7dc1312-038d-49bb-b3e4-d52e0d09e4d8 16 4875030 4875030 G C SNP PPL NM_002705 human genbank 54_36p -1 reviewed silent c.3627 p.L1209 0.998 NULL HMMSmart_SM00150,superfamily_Spectrin repeat,superfamily_Plakin repeat,HMMSmart_SM00250,HMMPfam_Plectin - no_errors TPP1 1200 genome.wustl.edu 36 11 6594915 6594915 + Missense_Mutation SNP C C T novel unknown TCGA-29-1785-01A-01W-0633-09 TCGA-29-1785-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d4ad0ff7-92fa-4c79-9e83-4408f8da83da a7dc1312-038d-49bb-b3e4-d52e0d09e4d8 11 6594915 6594915 C T SNP TPP1 NM_000391 human genbank 54_36p -1 reviewed missense c.554 p.R185H 0.004 superfamily_Protease propeptides/inhibitors superfamily_Protease propeptides/inhibitors,HMMPfam_Pro-kuma_activ,superfamily_Subtilisin-like - no_errors TP53 7157 genome.wustl.edu 36 17 7517653 7517653 + Splice_Site SNP T C C novel unknown TCGA-29-1785-01A-01W-0633-09 TCGA-29-1785-10A-01W-0634-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d4ad0ff7-92fa-4c79-9e83-4408f8da83da a7dc1312-038d-49bb-b3e4-d52e0d09e4d8 17 7517653 7517653 T C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed splice_site c.920-2 e8-2 0.950 - - - no_errors CAMTA1 23261 genome.wustl.edu 36 1 7646881 7646881 + Missense_Mutation SNP A A G novel unknown TCGA-29-1785-01A-01W-0633-09 TCGA-29-1785-10A-01W-0634-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d4ad0ff7-92fa-4c79-9e83-4408f8da83da a7dc1312-038d-49bb-b3e4-d52e0d09e4d8 1 7646881 7646881 A G SNP CAMTA1 NM_015215 human genbank 54_36p +1 validated missense c.1687 p.T563A 0.952 NULL HMMPfam_CG-1,superfamily_E set domains,HMMPfam_TIG,superfamily_Ankyrin repeat,HMMPfam_Ank,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_IQ - no_errors TUB 7275 genome.wustl.edu 36 11 8076972 8076972 + Missense_Mutation SNP C C T novel unknown TCGA-29-1785-01A-01W-0633-09 TCGA-29-1785-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d4ad0ff7-92fa-4c79-9e83-4408f8da83da a7dc1312-038d-49bb-b3e4-d52e0d09e4d8 11 8076972 8076972 C T SNP TUB NM_003320 human genbank 54_36p +1 reviewed missense c.1255 p.R419C 1.000 superfamily_Tubby_C,HMMPfam_Tub superfamily_Tubby_C,HMMPfam_Tub,PatternScan_TUB_1,PatternScan_TUB_2 - no_errors CLEC4D 338339 genome.wustl.edu 36 12 8562894 8562894 + Silent SNP T T C novel unknown TCGA-29-1785-01A-01W-0633-09 TCGA-29-1785-10A-01W-0634-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d4ad0ff7-92fa-4c79-9e83-4408f8da83da a7dc1312-038d-49bb-b3e4-d52e0d09e4d8 12 8562894 8562894 T C SNP CLEC4D NM_080387 human genbank 54_36p +1 reviewed silent c.255 p.P85 0.271 HMMSmart_CLECT,superfamily_C-type_lectin_fold PatternScan_C_TYPE_LECTIN_1,HMMSmart_CLECT,superfamily_C-type_lectin_fold,HMMPfam_Lectin_C - no_errors MYH11 4629 genome.wustl.edu 36 16 15716370 15716370 + Missense_Mutation SNP G G A novel unknown TCGA-29-1785-01A-01W-0633-09 TCGA-29-1785-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d4ad0ff7-92fa-4c79-9e83-4408f8da83da a7dc1312-038d-49bb-b3e4-d52e0d09e4d8 16 15716370 15716370 G A SNP MYH11 NM_001040114 human genbank 54_36p -1 reviewed missense c.5704 p.R1902C 1.000 HMMPfam_Myosin_tail_1 HMMPfam_Myosin_N,superfamily_SSF52540,HMMSmart_MYSc,HMMPfam_Myosin_head,HMMSmart_IQ,HMMPfam_IQ,HMMPfam_Myosin_tail_1 - no_errors PLEKHA7 144100 genome.wustl.edu 36 11 16804498 16804498 + Missense_Mutation SNP G G T novel unknown TCGA-29-1785-01A-01W-0633-09 TCGA-29-1785-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d4ad0ff7-92fa-4c79-9e83-4408f8da83da a7dc1312-038d-49bb-b3e4-d52e0d09e4d8 11 16804498 16804498 G T SNP PLEKHA7 NM_175058 human genbank 54_36p -1 provisional missense c.1088 p.S363Y 0.214 NULL superfamily_WW domain,HMMSmart_SM00456,HMMPfam_WW,PatternScan_WW_DOMAIN_1,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233 - no_errors CROCC 9696 genome.wustl.edu 36 1 17147924 17147924 + Missense_Mutation SNP C C T novel unknown TCGA-29-1785-01A-01W-0633-09 TCGA-29-1785-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d4ad0ff7-92fa-4c79-9e83-4408f8da83da a7dc1312-038d-49bb-b3e4-d52e0d09e4d8 1 17147924 17147924 C T SNP CROCC NM_014675 human genbank 54_36p +1 validated missense c.2752 p.R918W 1.000 NULL superfamily_Prefoldin - no_errors DNAH3 55567 genome.wustl.edu 36 16 20882110 20882110 + Missense_Mutation SNP C C T novel unknown TCGA-29-1785-01A-01W-0633-09 TCGA-29-1785-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d4ad0ff7-92fa-4c79-9e83-4408f8da83da a7dc1312-038d-49bb-b3e4-d52e0d09e4d8 16 20882110 20882110 C T SNP DNAH3 NM_017539 human genbank 54_36p -1 provisional missense c.10597 p.A3533T 1.000 HMMPfam_Dynein_heavy HMMPfam_DHC_N2,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_AAA_5,superfamily_Prefoldin,HMMPfam_Dynein_heavy - no_errors IGLV5-45 0 genome.wustl.edu 36 22 21060762 21060762 + Missense_Mutation SNP G G A novel unknown TCGA-29-1785-01A-01W-0633-09 TCGA-29-1785-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d4ad0ff7-92fa-4c79-9e83-4408f8da83da a7dc1312-038d-49bb-b3e4-d52e0d09e4d8 22 21060762 21060762 G A SNP IGLV5-45 ENST00000390296 human ensembl 54_36p +1 known missense c.257 p.R86H 0.128 superfamily_Immunoglobulin,HMMPfam_V-set,HMMSmart_SM00409,HMMSmart_SM00406 superfamily_Immunoglobulin,HMMPfam_V-set,HMMSmart_SM00409,HMMSmart_SM00406 - no_stop_codon KIAA0556 23247 genome.wustl.edu 36 16 27549895 27549895 + Nonsense_Mutation SNP C C T novel unknown TCGA-29-1785-01A-01W-0633-09 TCGA-29-1785-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d4ad0ff7-92fa-4c79-9e83-4408f8da83da a7dc1312-038d-49bb-b3e4-d52e0d09e4d8 16 27549895 27549895 C T SNP KIAA0556 NM_015202 human genbank 54_36p +1 validated nonsense c.319 p.R107* 0.791 NULL superfamily_Galactose-binding domain-like,PatternScan_AKH - no_errors METT5D1 196074 genome.wustl.edu 36 11 28189322 28189322 + Splice_Site SNP G G A novel unknown TCGA-29-1785-01A-01W-0633-09 TCGA-29-1785-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d4ad0ff7-92fa-4c79-9e83-4408f8da83da a7dc1312-038d-49bb-b3e4-d52e0d09e4d8 11 28189322 28189322 G A SNP METT5D1 NM_152636 human genbank 54_36p +1 validated splice_site c.407+1 e2+1 1.000 - - - no_errors MTPAP 55149 genome.wustl.edu 36 10 30669209 30669209 + Silent SNP C C T novel unknown TCGA-29-1785-01A-01W-0633-09 TCGA-29-1785-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d4ad0ff7-92fa-4c79-9e83-4408f8da83da a7dc1312-038d-49bb-b3e4-d52e0d09e4d8 10 30669209 30669209 C T SNP MTPAP NM_018109 human genbank 54_36p -1 validated silent c.507 p.L169 0.000 superfamily_Nucleotidyltransferase superfamily_Nucleotidyltransferase,superfamily_PAP/OAS1 substrate-binding domain,HMMPfam_PAP_assoc - no_errors MAPRE2 10982 genome.wustl.edu 36 18 30931554 30931554 + Splice_Site SNP G G T novel unknown TCGA-29-1785-01A-01W-0633-09 TCGA-29-1785-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d4ad0ff7-92fa-4c79-9e83-4408f8da83da a7dc1312-038d-49bb-b3e4-d52e0d09e4d8 18 30931554 30931554 G T SNP MAPRE2 NM_014268 human genbank 54_36p +1 reviewed splice_site c.396+1 e3+1 1.000 - - - no_errors SMU1 55234 genome.wustl.edu 36 9 33058870 33058870 + Silent SNP G G A novel unknown TCGA-29-1785-01A-01W-0633-09 TCGA-29-1785-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d4ad0ff7-92fa-4c79-9e83-4408f8da83da a7dc1312-038d-49bb-b3e4-d52e0d09e4d8 9 33058870 33058870 G A SNP SMU1 NM_018225 human genbank 54_36p -1 validated silent c.453 p.G151 0.977 NULL HMMSmart_SM00667,HMMSmart_SM00668,superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40,PatternScan_WD_REPEATS_1 - no_errors KRT10 3858 genome.wustl.edu 36 17 36229911 36229911 + Missense_Mutation SNP C G G novel unknown TCGA-29-1785-01A-01W-0633-09 TCGA-29-1785-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d4ad0ff7-92fa-4c79-9e83-4408f8da83da a7dc1312-038d-49bb-b3e4-d52e0d09e4d8 17 36229911 36229911 C G SNP KRT10 NM_000421 human genbank 54_36p -1 reviewed missense c.1071 p.Q357H 1.000 HMMPfam_Filament,superfamily_Prefoldin HMMPfam_Filament,superfamily_Prefoldin,PatternScan_IF - no_errors DYRK1A 1859 genome.wustl.edu 36 21 37800516 37800516 + Missense_Mutation SNP G G C novel unknown TCGA-29-1785-01A-01W-0633-09 TCGA-29-1785-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d4ad0ff7-92fa-4c79-9e83-4408f8da83da a7dc1312-038d-49bb-b3e4-d52e0d09e4d8 21 37800516 37800516 G C SNP DYRK1A ENST00000321219 human ensembl 54_36p +1 known missense c.1621 p.V541L 0.000 NULL superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST - no_stop_codon DHX57 90957 genome.wustl.edu 36 2 38944043 38944043 + Missense_Mutation SNP C C G novel unknown TCGA-29-1785-01A-01W-0633-09 TCGA-29-1785-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d4ad0ff7-92fa-4c79-9e83-4408f8da83da a7dc1312-038d-49bb-b3e4-d52e0d09e4d8 2 38944043 38944043 C G SNP DHX57 NM_198963 human genbank 54_36p -1 provisional missense c.347 p.R116P 0.999 NULL HMMPfam_UBA,HMMPfam_RWD,HMMPfam_zf-CCCH,HMMSmart_SM00356,HMMSmart_SM00487,HMMPfam_DEAD,superfamily_P-loop containing nucleoside triphosphate hydrolases,PatternScan_DEAH_ATP_HELICASE,HMMSmart_SM00490,HMMPfam_Helicase_C,HMMPfam_HA2,HMMPfam_DUF1605 - no_errors NPHS1 4868 genome.wustl.edu 36 19 41013601 41013601 + Silent SNP G G A novel unknown TCGA-29-1785-01A-01W-0633-09 TCGA-29-1785-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d4ad0ff7-92fa-4c79-9e83-4408f8da83da a7dc1312-038d-49bb-b3e4-d52e0d09e4d8 19 41013601 41013601 G A SNP NPHS1 NM_004646 human genbank 54_36p -1 validated silent c.3579 p.Y1193 0.960 NULL HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_C2-set_2,HMMPfam_I-set,HMMPfam_ig,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3 - no_errors KIAA1632 57724 genome.wustl.edu 36 18 41788626 41788626 + Missense_Mutation SNP G G A novel unknown TCGA-29-1785-01A-01W-0633-09 TCGA-29-1785-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d4ad0ff7-92fa-4c79-9e83-4408f8da83da a7dc1312-038d-49bb-b3e4-d52e0d09e4d8 18 41788626 41788626 G A SNP KIAA1632 NM_020964 human genbank 54_36p -1 validated missense c.740 p.P247L 0.993 NULL NULL - no_errors CCNYL2 414194 genome.wustl.edu 36 10 42269785 42269785 + Nonsense_Mutation SNP G G A novel unknown TCGA-29-1785-01A-01W-0633-09 TCGA-29-1785-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d4ad0ff7-92fa-4c79-9e83-4408f8da83da a7dc1312-038d-49bb-b3e4-d52e0d09e4d8 10 42269785 42269785 G A SNP CCNYL2 XM_374787 human genbank 54_36p -1 model nonsense c.589 p.Q197* 0.061 NULL HMMSmart_SM00385,superfamily_Cyclin-like,HMMPfam_Cyclin_N - no_errors ZNF335 63925 genome.wustl.edu 36 20 44012521 44012521 + Missense_Mutation SNP C C G novel unknown TCGA-29-1785-01A-01W-0633-09 TCGA-29-1785-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d4ad0ff7-92fa-4c79-9e83-4408f8da83da a7dc1312-038d-49bb-b3e4-d52e0d09e4d8 20 44012521 44012521 C G SNP ZNF335 NM_022095 human genbank 54_36p -1 reviewed missense c.3310 p.A1104P 0.320 superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355 superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1 - no_errors RUVBL2 10856 genome.wustl.edu 36 19 54209593 54209593 + Missense_Mutation SNP A A G novel unknown TCGA-29-1785-01A-01W-0633-09 TCGA-29-1785-10A-01W-0634-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d4ad0ff7-92fa-4c79-9e83-4408f8da83da a7dc1312-038d-49bb-b3e4-d52e0d09e4d8 19 54209593 54209593 A G SNP RUVBL2 NM_006666 human genbank 54_36p +1 reviewed missense c.1042 p.I348V 1.000 superfamily_SSF52540,HMMSmart_AAA,HMMPfam_TIP49 superfamily_SSF52540,HMMSmart_AAA,HMMPfam_AAA,HMMPfam_TIP49 - no_errors MED25 81857 genome.wustl.edu 36 19 55023554 55023554 + Silent SNP C C T novel unknown TCGA-29-1785-01A-01W-0633-09 TCGA-29-1785-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d4ad0ff7-92fa-4c79-9e83-4408f8da83da a7dc1312-038d-49bb-b3e4-d52e0d09e4d8 19 55023554 55023554 C T SNP MED25 NM_030973 human genbank 54_36p +1 validated silent c.342 p.I114 0.996 NULL NULL - no_errors DDX4 54514 genome.wustl.edu 36 5 55124253 55124253 + Missense_Mutation SNP G G A novel unknown TCGA-29-1785-01A-01W-0633-09 TCGA-29-1785-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d4ad0ff7-92fa-4c79-9e83-4408f8da83da a7dc1312-038d-49bb-b3e4-d52e0d09e4d8 5 55124253 55124253 G A SNP DDX4 NM_024415 human genbank 54_36p +1 validated missense c.1330 p.V444I 1.000 superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487,HMMPfam_DEAD,PatternScan_DEAD_ATP_HELICASE superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487,HMMPfam_DEAD,PatternScan_DEAD_ATP_HELICASE,HMMSmart_SM00490,HMMPfam_Helicase_C - no_errors LANCL2 55915 genome.wustl.edu 36 7 55426979 55426979 + Splice_Site SNP G G C novel unknown TCGA-29-1785-01A-01W-0633-09 TCGA-29-1785-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d4ad0ff7-92fa-4c79-9e83-4408f8da83da a7dc1312-038d-49bb-b3e4-d52e0d09e4d8 7 55426979 55426979 G C SNP LANCL2 NM_018697 human genbank 54_36p +1 validated splice_site c.205-1 e2-1 1.000 - - - no_errors LRP1 4035 genome.wustl.edu 36 12 55870867 55870867 + Nonsense_Mutation SNP G G A novel unknown TCGA-29-1785-01A-01W-0633-09 TCGA-29-1785-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d4ad0ff7-92fa-4c79-9e83-4408f8da83da a7dc1312-038d-49bb-b3e4-d52e0d09e4d8 12 55870867 55870867 G A SNP LRP1 NM_002332 human genbank 54_36p +1 validated nonsense c.7044 p.W2348* 1.000 superfamily_YWTD domain,HMMSmart_SM00135,HMMPfam_Ldl_recept_b superfamily_LDL receptor-like module,HMMPfam_Ldl_recept_a,HMMSmart_SM00192,PatternScan_LDLRA_1,HMMSmart_SM00179,superfamily_EGF/Laminin,HMMSmart_SM00181,HMMPfam_EGF,PatternScan_EGF_CA,HMMPfam_EGF_CA,PatternScan_ASX_HYDROXYL,PatternScan_EGF_2,superfamily_YWTD domain,HMMSmart_SM00135,HMMPfam_Ldl_recept_b,PatternScan_EGF_1 - no_errors SERPINB2 5055 genome.wustl.edu 36 18 59715421 59715421 + Silent SNP G G C novel unknown TCGA-29-1785-01A-01W-0633-09 TCGA-29-1785-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d4ad0ff7-92fa-4c79-9e83-4408f8da83da a7dc1312-038d-49bb-b3e4-d52e0d09e4d8 18 59715421 59715421 G C SNP SERPINB2 NM_002575 human genbank 54_36p +1 validated silent c.405 p.A135 0.000 HMMPfam_Serpin,superfamily_Prot_inh_serpin,HMMSmart_SERPIN HMMPfam_Serpin,superfamily_Prot_inh_serpin,HMMSmart_SERPIN,PatternScan_SERPIN - no_errors RARRES3 5920 genome.wustl.edu 36 11 63068826 63068826 + Silent SNP C C T novel unknown TCGA-29-1785-01A-01W-0633-09 TCGA-29-1785-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d4ad0ff7-92fa-4c79-9e83-4408f8da83da a7dc1312-038d-49bb-b3e4-d52e0d09e4d8 11 63068826 63068826 C T SNP RARRES3 NM_004585 human genbank 54_36p +1 validated silent c.276 p.I92 0.970 HMMPfam_NC HMMPfam_NC - no_errors PLA2G15 23659 genome.wustl.edu 36 16 66836855 66836855 + Missense_Mutation SNP C G G novel unknown TCGA-29-1785-01A-01W-0633-09 TCGA-29-1785-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d4ad0ff7-92fa-4c79-9e83-4408f8da83da a7dc1312-038d-49bb-b3e4-d52e0d09e4d8 16 66836855 66836855 C G SNP PLA2G15 NM_012320 human genbank 54_36p +1 reviewed missense c.25 p.R9G 0.000 NULL superfamily_alpha/beta-Hydrolases,HMMPfam_LACT - no_errors CABP4 57010 genome.wustl.edu 36 11 66982490 66982490 + Missense_Mutation SNP C C T novel unknown TCGA-29-1785-01A-01W-0633-09 TCGA-29-1785-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d4ad0ff7-92fa-4c79-9e83-4408f8da83da a7dc1312-038d-49bb-b3e4-d52e0d09e4d8 11 66982490 66982490 C T SNP CABP4 NM_145200 human genbank 54_36p +1 validated missense c.724 p.P242S 0.996 superfamily_EF-hand superfamily_EF-hand,HMMSmart_SM00054,HMMPfam_efhand,PatternScan_EF_HAND_1 - no_errors RPLP1 6176 genome.wustl.edu 36 15 67534864 67534864 + Missense_Mutation SNP G G C novel unknown TCGA-29-1785-01A-01W-0633-09 TCGA-29-1785-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d4ad0ff7-92fa-4c79-9e83-4408f8da83da a7dc1312-038d-49bb-b3e4-d52e0d09e4d8 15 67534864 67534864 G C SNP RPLP1 NM_001003 human genbank 54_36p +1 reviewed missense c.309 p.E103D 0.994 HMMPfam_Ribosomal_60s HMMPfam_Ribosomal_60s - no_errors BAI3 577 genome.wustl.edu 36 6 70091598 70091598 + Silent SNP A A G novel unknown TCGA-29-1785-01A-01W-0633-09 TCGA-29-1785-10A-01W-0634-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d4ad0ff7-92fa-4c79-9e83-4408f8da83da a7dc1312-038d-49bb-b3e4-d52e0d09e4d8 6 70091598 70091598 A G SNP BAI3 NM_001704 human genbank 54_36p +1 reviewed silent c.2928 p.T976 0.915 HMMPfam_7tm_2 superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,HMMSmart_SM00008,HMMPfam_HRM,HMMPfam_GPS,HMMSmart_SM00303,HMMPfam_7tm_2,PatternScan_G_PROTEIN_RECEP_F2_2 - no_errors ZNF516 9658 genome.wustl.edu 36 18 72283457 72283457 + Missense_Mutation SNP C C T novel unknown TCGA-29-1785-01A-01W-0633-09 TCGA-29-1785-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d4ad0ff7-92fa-4c79-9e83-4408f8da83da a7dc1312-038d-49bb-b3e4-d52e0d09e4d8 18 72283457 72283457 C T SNP ZNF516 ENST00000217537 human ensembl 54_36p -1 known missense c.542 p.S181N 0.904 superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1 superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1 - no_errors LOC391532 391532 genome.wustl.edu 36 15 73826757 73826757 + RNA SNP T T G novel unknown TCGA-29-1785-01A-01W-0633-09 TCGA-29-1785-10A-01W-0634-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d4ad0ff7-92fa-4c79-9e83-4408f8da83da a7dc1312-038d-49bb-b3e4-d52e0d09e4d8 15 73826757 73826757 T G SNP LOC391532 XR_017653 human genbank 54_36p +1 model rna NULL NULL 0.978 - - - pseudogene SIRT7 51547 genome.wustl.edu 36 17 77465504 77465504 + Silent SNP G T T novel unknown TCGA-29-1785-01A-01W-0633-09 TCGA-29-1785-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d4ad0ff7-92fa-4c79-9e83-4408f8da83da a7dc1312-038d-49bb-b3e4-d52e0d09e4d8 17 77465504 77465504 G T SNP SIRT7 NM_016538 human genbank 54_36p -1 reviewed silent c.774 p.A258 0.572 superfamily_DHS-like NAD/FAD-binding domain,HMMPfam_SIR2 superfamily_DHS-like NAD/FAD-binding domain,HMMPfam_SIR2 - no_errors LOC643562 643562 genome.wustl.edu 36 6 80835784 80835784 + RNA SNP C C G novel unknown TCGA-29-1785-01A-01W-0633-09 TCGA-29-1785-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d4ad0ff7-92fa-4c79-9e83-4408f8da83da a7dc1312-038d-49bb-b3e4-d52e0d09e4d8 6 80835784 80835784 C G SNP LOC643562 XR_016539 human genbank 54_36p -1 model rna NULL NULL 0.956 - - - pseudogene LOC100129942 0 genome.wustl.edu 36 15 87334429 87334429 + RNA SNP G G A novel unknown TCGA-29-1785-01A-01W-0633-09 TCGA-29-1785-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d4ad0ff7-92fa-4c79-9e83-4408f8da83da a7dc1312-038d-49bb-b3e4-d52e0d09e4d8 15 87334429 87334429 G A SNP LOC100129942 XR_038237 human genbank 54_36p -1 model rna NULL NULL 1.000 - - - pseudogene C15orf32 145858 genome.wustl.edu 36 15 90816693 90816693 + Missense_Mutation SNP C C T novel unknown TCGA-29-1785-01A-01W-0633-09 TCGA-29-1785-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d4ad0ff7-92fa-4c79-9e83-4408f8da83da a7dc1312-038d-49bb-b3e4-d52e0d09e4d8 15 90816693 90816693 C T SNP C15orf32 NM_153040 human genbank 54_36p +1 predicted missense c.311 p.P104L 0.013 NULL NULL - no_errors CLLU1OS 574016 genome.wustl.edu 36 12 91339069 91339069 + Missense_Mutation SNP T T A novel unknown TCGA-29-1785-01A-01W-0633-09 TCGA-29-1785-10A-01W-0634-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d4ad0ff7-92fa-4c79-9e83-4408f8da83da a7dc1312-038d-49bb-b3e4-d52e0d09e4d8 12 91339069 91339069 T A SNP CLLU1OS NM_001025232 human genbank 54_36p -1 provisional missense c.154 p.T52S 0.035 NULL NULL - no_errors RHOBTB3 22836 genome.wustl.edu 36 5 95113772 95113772 + Missense_Mutation SNP C C G novel unknown TCGA-29-1785-01A-01W-0633-09 TCGA-29-1785-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d4ad0ff7-92fa-4c79-9e83-4408f8da83da a7dc1312-038d-49bb-b3e4-d52e0d09e4d8 5 95113772 95113772 C G SNP RHOBTB3 NM_014899 human genbank 54_36p +1 validated missense c.644 p.S215C 0.003 NULL superfamily_SSF52540,HMMSmart_BTB,superfamily_BTB/POZ_fold,HMMPfam_BTB - no_errors LOC400986 400986 genome.wustl.edu 36 2 95884856 95884856 + Missense_Mutation SNP G G A novel unknown TCGA-29-1785-01A-01W-0633-09 TCGA-29-1785-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d4ad0ff7-92fa-4c79-9e83-4408f8da83da a7dc1312-038d-49bb-b3e4-d52e0d09e4d8 2 95884856 95884856 G A SNP LOC400986 XM_001717763 human genbank 54_36p -1 model missense c.4880 p.A1627V 0.915 NULL superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank - no_errors HSD17B3 3293 genome.wustl.edu 36 9 98042999 98042999 + Silent SNP T T C novel unknown TCGA-29-1785-01A-01W-0633-09 TCGA-29-1785-10A-01W-0634-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d4ad0ff7-92fa-4c79-9e83-4408f8da83da a7dc1312-038d-49bb-b3e4-d52e0d09e4d8 9 98042999 98042999 T C SNP HSD17B3 NM_000197 human genbank 54_36p -1 reviewed silent c.684 p.P228 0.956 superfamily_NAD(P)-binding Rossmann-fold domains superfamily_NAD(P)-binding Rossmann-fold domains,HMMPfam_adh_short,PatternScan_ADH_SHORT,PatternScan_ALDEHYDE_DEHYDR_CYS - no_errors WDR20 91833 genome.wustl.edu 36 14 101744697 101744697 + Missense_Mutation SNP T T A novel unknown TCGA-29-1785-01A-01W-0633-09 TCGA-29-1785-10A-01W-0634-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d4ad0ff7-92fa-4c79-9e83-4408f8da83da a7dc1312-038d-49bb-b3e4-d52e0d09e4d8 14 101744697 101744697 T A SNP WDR20 NM_181291 human genbank 54_36p +1 reviewed missense c.437 p.L146Q 1.000 superfamily_WD40_like,HMMSmart_WD40 superfamily_WD40_like,HMMSmart_WD40,HMMPfam_WD40 - no_errors SVEP1 79987 genome.wustl.edu 36 9 112291858 112291858 + Missense_Mutation SNP G G C novel unknown TCGA-29-1785-01A-01W-0633-09 TCGA-29-1785-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d4ad0ff7-92fa-4c79-9e83-4408f8da83da a7dc1312-038d-49bb-b3e4-d52e0d09e4d8 9 112291858 112291858 G C SNP SVEP1 NM_153366 human genbank 54_36p -1 validated missense c.1823 p.A608G 1.000 HMMPfam_HYR superfamily_vWA-like,HMMSmart_SM00327,HMMPfam_VWA,superfamily_Growth factor receptor domain,PatternScan_EGF_2,HMMPfam_GCC2_GCC3,superfamily_Complement control module/SCR domain,HMMPfam_Sushi,HMMSmart_SM00032,HMMPfam_HYR,superfamily_EGF/Laminin,HMMSmart_SM00179,HMMSmart_SM00181,HMMPfam_EGF,PatternScan_EGF_1,PatternScan_EGF_CA,PatternScan_ASX_HYDROXYL,HMMSmart_SM00159,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Pentaxin,HMMPfam_EGF_CA,HMMPfam_EGF_2 - no_errors PLBD2 196463 genome.wustl.edu 36 12 112309148 112309148 + Missense_Mutation SNP C C T novel unknown TCGA-29-1785-01A-01W-0633-09 TCGA-29-1785-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d4ad0ff7-92fa-4c79-9e83-4408f8da83da a7dc1312-038d-49bb-b3e4-d52e0d09e4d8 12 112309148 112309148 C T SNP PLBD2 NM_173542 human genbank 54_36p +1 provisional missense c.1310 p.A437V 1.000 HMMPfam_Phospholip_B HMMPfam_Phospholip_B - no_errors CSMD3 114788 genome.wustl.edu 36 8 114360090 114360090 + Missense_Mutation SNP G G A novel unknown TCGA-29-1785-01A-01W-0633-09 TCGA-29-1785-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d4ad0ff7-92fa-4c79-9e83-4408f8da83da a7dc1312-038d-49bb-b3e4-d52e0d09e4d8 8 114360090 114360090 G A SNP CSMD3 NM_198123 human genbank 54_36p -1 validated missense c.421 p.P141S 1.000 superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042 superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042,superfamily_Complement control module/SCR domain,HMMPfam_Sushi,HMMSmart_SM00032,PatternScan_GLYCOSYL_HYDROL_F10 - no_errors GCN1L1 10985 genome.wustl.edu 36 12 119059893 119059893 + Silent SNP T T G novel unknown TCGA-29-1785-01A-01W-0633-09 TCGA-29-1785-10A-01W-0634-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d4ad0ff7-92fa-4c79-9e83-4408f8da83da a7dc1312-038d-49bb-b3e4-d52e0d09e4d8 12 119059893 119059893 T G SNP GCN1L1 NM_006836 human genbank 54_36p -1 validated silent c.6502 p.R2168 1.000 superfamily_ARM repeat superfamily_ARM repeat,HMMPfam_HEAT - no_errors LOC644213 644213 genome.wustl.edu 36 1 119878479 119878479 + RNA SNP C C T novel unknown TCGA-29-1785-01A-01W-0633-09 TCGA-29-1785-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d4ad0ff7-92fa-4c79-9e83-4408f8da83da a7dc1312-038d-49bb-b3e4-d52e0d09e4d8 1 119878479 119878479 C T SNP LOC644213 XR_016570 human genbank 54_36p -1 model rna NULL NULL 1.000 - - - pseudogene C5 727 genome.wustl.edu 36 9 122809072 122809072 + Missense_Mutation SNP G G C novel unknown TCGA-29-1785-01A-01W-0633-09 TCGA-29-1785-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d4ad0ff7-92fa-4c79-9e83-4408f8da83da a7dc1312-038d-49bb-b3e4-d52e0d09e4d8 9 122809072 122809072 G C SNP C5 NM_001735 human genbank 54_36p -1 reviewed missense c.2353 p.Q785E 0.002 HMMPfam_A2M PatternScan_ALPHA_2_MACROGLOBULIN,HMMPfam_A2M_N,HMMPfam_A2M_N_2,superfamily_Anaphylatoxin,HMMPfam_ANATO,HMMSmart_ANATO,PatternScan_ANAPHYLATOXIN_1,HMMPfam_A2M,superfamily_Terp_cyc_toroid,HMMPfam_A2M_comp,superfamily_AM_receptor_bind,HMMPfam_A2M_recep,HMMSmart_C345C,HMMPfam_NTR - no_errors C5orf48 389320 genome.wustl.edu 36 5 125999694 125999694 + Silent SNP T T C novel unknown TCGA-29-1785-01A-01W-0633-09 TCGA-29-1785-10A-01W-0634-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d4ad0ff7-92fa-4c79-9e83-4408f8da83da a7dc1312-038d-49bb-b3e4-d52e0d09e4d8 5 125999694 125999694 T C SNP C5orf48 NM_207408 human genbank 54_36p +1 predicted silent c.267 p.L89 1.000 NULL NULL - no_errors PIWIL1 9271 genome.wustl.edu 36 12 129406076 129406076 + Missense_Mutation SNP C C G novel unknown TCGA-29-1785-01A-01W-0633-09 TCGA-29-1785-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d4ad0ff7-92fa-4c79-9e83-4408f8da83da a7dc1312-038d-49bb-b3e4-d52e0d09e4d8 12 129406076 129406076 C G SNP PIWIL1 NM_004764 human genbank 54_36p +1 reviewed missense c.1315 p.R439G 0.879 NULL superfamily_PAZ domain,HMMPfam_PAZ,superfamily_Ribonuclease H-like,HMMPfam_Piwi - no_errors DOLPP1 57171 genome.wustl.edu 36 9 130886835 130886835 + Silent SNP G G C novel unknown TCGA-29-1785-01A-01W-0633-09 TCGA-29-1785-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d4ad0ff7-92fa-4c79-9e83-4408f8da83da a7dc1312-038d-49bb-b3e4-d52e0d09e4d8 9 130886835 130886835 G C SNP DOLPP1 NM_020438 human genbank 54_36p +1 validated silent c.144 p.V48 1.000 superfamily_AcPase_VanPerase superfamily_AcPase_VanPerase,HMMPfam_PAP2,HMMSmart_acidPPc - no_errors CEP63 80254 genome.wustl.edu 36 3 135760920 135760920 + Missense_Mutation SNP A A G novel unknown TCGA-29-1785-01A-01W-0633-09 TCGA-29-1785-10A-01W-0634-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d4ad0ff7-92fa-4c79-9e83-4408f8da83da a7dc1312-038d-49bb-b3e4-d52e0d09e4d8 3 135760920 135760920 A G SNP CEP63 NM_025180 human genbank 54_36p +1 reviewed missense c.1912 p.M638V 0.218 NULL NULL - no_errors PSD2 84249 genome.wustl.edu 36 5 139169374 139169374 + Silent SNP G G A novel unknown TCGA-29-1785-01A-01W-0633-09 TCGA-29-1785-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d4ad0ff7-92fa-4c79-9e83-4408f8da83da a7dc1312-038d-49bb-b3e4-d52e0d09e4d8 5 139169374 139169374 G A SNP PSD2 NM_032289 human genbank 54_36p +1 provisional silent c.165 p.A55 0.000 NULL HMMSmart_SM00222,HMMPfam_Sec7,superfamily_Sec7 domain,HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like - no_errors ANKRD35 148741 genome.wustl.edu 36 1 144273630 144273630 + Missense_Mutation SNP G G A novel unknown TCGA-29-1785-01A-01W-0633-09 TCGA-29-1785-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d4ad0ff7-92fa-4c79-9e83-4408f8da83da a7dc1312-038d-49bb-b3e4-d52e0d09e4d8 1 144273630 144273630 G A SNP ANKRD35 NM_144698 human genbank 54_36p +1 validated missense c.1961 p.R654Q 0.722 NULL superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank - no_errors FOXH1 8928 genome.wustl.edu 36 8 145671933 145671933 + Silent SNP G A A novel unknown TCGA-29-1785-01A-01W-0633-09 TCGA-29-1785-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d4ad0ff7-92fa-4c79-9e83-4408f8da83da a7dc1312-038d-49bb-b3e4-d52e0d09e4d8 8 145671933 145671933 G A SNP FOXH1 NM_003923 human genbank 54_36p -1 reviewed silent c.15 p.S5 0.057 NULL PatternScan_FORK_HEAD_1,HMMSmart_FH,superfamily_SSF46785,HMMPfam_Fork_head,PatternScan_FORK_HEAD_2 - no_errors LOC100128116 0 genome.wustl.edu 36 5 146066127 146066127 + RNA SNP C C A novel unknown TCGA-29-1785-01A-01W-0633-09 TCGA-29-1785-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d4ad0ff7-92fa-4c79-9e83-4408f8da83da a7dc1312-038d-49bb-b3e4-d52e0d09e4d8 5 146066127 146066127 C A SNP LOC100128116 XR_039194 human genbank 54_36p -1 model rna NULL NULL 0.067 - - - pseudogene GATAD2B 57459 genome.wustl.edu 36 1 152052434 152052434 + Missense_Mutation SNP C C T novel unknown TCGA-29-1785-01A-01W-0633-09 TCGA-29-1785-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d4ad0ff7-92fa-4c79-9e83-4408f8da83da a7dc1312-038d-49bb-b3e4-d52e0d09e4d8 1 152052434 152052434 C T SNP GATAD2B NM_020699 human genbank 54_36p -1 validated missense c.1335 p.M445I 1.000 HMMPfam_GATA PatternScan_GATA_ZN_FINGER_1,superfamily_SSF57716,HMMPfam_GATA - no_errors MED12L 116931 genome.wustl.edu 36 3 152590488 152590488 + Missense_Mutation SNP C C A novel unknown TCGA-29-1785-01A-01W-0633-09 TCGA-29-1785-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d4ad0ff7-92fa-4c79-9e83-4408f8da83da a7dc1312-038d-49bb-b3e4-d52e0d09e4d8 3 152590488 152590488 C A SNP MED12L NM_053002 human genbank 54_36p +1 validated missense c.5378 p.P1793H 1.000 NULL HMMPfam_Med12 - no_errors INSRR 3645 genome.wustl.edu 36 1 155082168 155082168 + Missense_Mutation SNP C C T novel unknown TCGA-29-1785-01A-01W-0633-09 TCGA-29-1785-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d4ad0ff7-92fa-4c79-9e83-4408f8da83da a7dc1312-038d-49bb-b3e4-d52e0d09e4d8 1 155082168 155082168 C T SNP INSRR NM_014215 human genbank 54_36p -1 validated missense c.2041 p.A681T 0.033 superfamily_FN_III-like,HMMSmart_FN3 superfamily_SSF52058,HMMPfam_Recep_L_domain,HMMPfam_Furin-like,superfamily_Grow_fac_recept,HMMSmart_FU,HMMSmart_FN3,superfamily_FN_III-like,HMMPfam_fn3,superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_TYR,PatternScan_RECEPTOR_TYR_KIN_II - no_errors KCNJ3 3760 genome.wustl.edu 36 2 155264034 155264034 + Silent SNP C C T novel unknown TCGA-29-1785-01A-01W-0633-09 TCGA-29-1785-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d4ad0ff7-92fa-4c79-9e83-4408f8da83da a7dc1312-038d-49bb-b3e4-d52e0d09e4d8 2 155264034 155264034 C T SNP KCNJ3 NM_002239 human genbank 54_36p +1 reviewed silent c.501 p.I167 1.000 HMMPfam_IRK,superfamily_SSF81324 HMMPfam_IRK,superfamily_SSF81324,superfamily_Ig_E-set - no_errors SGCD 6444 genome.wustl.edu 36 5 155704105 155704105 + Missense_Mutation SNP G G A novel unknown TCGA-29-1785-01A-01W-0633-09 TCGA-29-1785-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d4ad0ff7-92fa-4c79-9e83-4408f8da83da a7dc1312-038d-49bb-b3e4-d52e0d09e4d8 5 155704105 155704105 G A SNP SGCD NM_000337 human genbank 54_36p +1 reviewed missense c.32 p.R11Q 1.000 NULL HMMPfam_Sarcoglycan_1 - no_errors FGA 2243 genome.wustl.edu 36 4 155724960 155724960 + Missense_Mutation SNP G G T novel unknown TCGA-29-1785-01A-01W-0633-09 TCGA-29-1785-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d4ad0ff7-92fa-4c79-9e83-4408f8da83da a7dc1312-038d-49bb-b3e4-d52e0d09e4d8 4 155724960 155724960 G T SNP FGA NM_000508 human genbank 54_36p -1 reviewed missense c.2367 p.D789E 1.000 superfamily_Fibrinogen C-terminal domain-like,HMMSmart_SM00186,HMMPfam_Fibrinogen_C HMMPfam_Fib_alpha,superfamily_Fibrinogen C-terminal domain-like,HMMSmart_SM00186,HMMPfam_Fibrinogen_C,PatternScan_FIBRIN_AG_C_DOMAIN - no_errors PLCH1 23007 genome.wustl.edu 36 3 156681560 156681560 + Missense_Mutation SNP G G A novel unknown TCGA-29-1785-01A-01W-0633-09 TCGA-29-1785-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d4ad0ff7-92fa-4c79-9e83-4408f8da83da a7dc1312-038d-49bb-b3e4-d52e0d09e4d8 3 156681560 156681560 G A SNP PLCH1 NM_014996 human genbank 54_36p -1 validated missense c.4859 p.T1620M 0.989 NULL superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH,HMMSmart_EFh,HMMPfam_efhand,PatternScan_EF_HAND_1,superfamily_SSF47473,HMMPfam_efhand_like,HMMSmart_PLCXc,HMMPfam_PI-PLC-X,superfamily_PLC-like_Pdiesterase_TIM-brl,HMMPfam_PI-PLC-Y,HMMSmart_PLCYc,superfamily_C2_CaLB,HMMSmart_C2,HMMPfam_C2 - no_errors ATP10B 23120 genome.wustl.edu 36 5 159966594 159966594 + Silent SNP C T T novel unknown TCGA-29-1785-01A-01W-0633-09 TCGA-29-1785-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d4ad0ff7-92fa-4c79-9e83-4408f8da83da a7dc1312-038d-49bb-b3e4-d52e0d09e4d8 5 159966594 159966594 C T SNP ATP10B NM_025153 human genbank 54_36p -1 validated silent c.2916 p.K972 0.004 superfamily_HAD-like HMMPfam_E1-E2_ATPase,superfamily_Calcium ATPase transduction domain A,superfamily_HAD-like,PatternScan_ATPASE_E1_E2,superfamily_Metal cation-transporting ATPase ATP-binding domain N,HMMPfam_Hydrolase_3 - no_errors TTN 7273 genome.wustl.edu 36 2 179106564 179106564 + Missense_Mutation SNP C C G novel unknown TCGA-29-1785-01A-01W-0633-09 TCGA-29-1785-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d4ad0ff7-92fa-4c79-9e83-4408f8da83da a7dc1312-038d-49bb-b3e4-d52e0d09e4d8 2 179106564 179106564 C G SNP TTN ENST00000375038 human ensembl 54_36p -1 known missense c.90967 p.D30323H 1.000 superfamily_Concanavalin A-like lectins/glucanases,superfamily_vWA-like,superfamily_WD40 repeat-like,superfamily_Positive stranded ssRNA viruses,superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409 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 SLC40A1 30061 genome.wustl.edu 36 2 190136687 190136687 + Missense_Mutation SNP G G T novel unknown TCGA-29-1785-01A-01W-0633-09 TCGA-29-1785-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d4ad0ff7-92fa-4c79-9e83-4408f8da83da a7dc1312-038d-49bb-b3e4-d52e0d09e4d8 2 190136687 190136687 G T SNP SLC40A1 NM_014585 human genbank 54_36p -1 reviewed missense c.1270 p.P424T 0.831 superfamily_MFS general substrate transporter superfamily_MFS general substrate transporter,HMMPfam_FPN1 - no_errors DNAH7 56171 genome.wustl.edu 36 2 196468060 196468060 + Missense_Mutation SNP T T A novel unknown TCGA-29-1785-01A-01W-0633-09 TCGA-29-1785-10A-01W-0634-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d4ad0ff7-92fa-4c79-9e83-4408f8da83da a7dc1312-038d-49bb-b3e4-d52e0d09e4d8 2 196468060 196468060 T A SNP DNAH7 NM_018897 human genbank 54_36p -1 validated missense c.4781 p.Q1594L 1.000 superfamily_P-loop containing nucleoside triphosphate hydrolases HMMPfam_DHC_N2,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_AAA_5,PatternScan_EF_HAND_1,HMMPfam_Dynein_heavy,PatternScan_ADH_SHORT - no_errors ABCB10 23456 genome.wustl.edu 36 1 227728462 227728462 + Missense_Mutation SNP T T C novel unknown TCGA-29-1785-01A-01W-0633-09 TCGA-29-1785-10A-01W-0634-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d4ad0ff7-92fa-4c79-9e83-4408f8da83da a7dc1312-038d-49bb-b3e4-d52e0d09e4d8 1 227728462 227728462 T C SNP ABCB10 NM_012089 human genbank 54_36p -1 reviewed missense c.1750 p.I584V 0.984 superfamily_SSF52540,HMMSmart_AAA,HMMPfam_ABC_tran superfamily_ABC_TM_1,HMMPfam_ABC_membrane,superfamily_SSF52540,HMMSmart_AAA,HMMPfam_ABC_tran,PatternScan_ABC_TRANSPORTER_1 - no_errors SPHKAP 80309 genome.wustl.edu 36 2 228590188 228590188 + Missense_Mutation SNP C C A novel unknown TCGA-29-1785-01A-01W-0633-09 TCGA-29-1785-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d4ad0ff7-92fa-4c79-9e83-4408f8da83da a7dc1312-038d-49bb-b3e4-d52e0d09e4d8 2 228590188 228590188 C A SNP SPHKAP NM_030623 human genbank 54_36p -1 validated missense c.3626 p.S1209I 0.000 NULL HMMPfam_AKAP_110 - no_errors WDR64 128025 genome.wustl.edu 36 1 239996218 239996218 + Missense_Mutation SNP G G A novel unknown TCGA-29-1785-01A-01W-0633-09 TCGA-29-1785-10A-01W-0634-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d4ad0ff7-92fa-4c79-9e83-4408f8da83da a7dc1312-038d-49bb-b3e4-d52e0d09e4d8 1 239996218 239996218 G A SNP WDR64 NM_144625 human genbank 54_36p +1 validated missense c.1153 p.G385R 0.269 superfamily_WD40 repeat-like superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40 - no_errors C12orf35 55196 genome.wustl.edu 36 12 32025230 32025252 + Frame_Shift_Del DEL ACCAGTCTTTAATAAACCAAATT ACCAGTCTTTAATAAACCAAATT - novel unknown TCGA-29-1785-01A-01W-0633-09 TCGA-29-1785-10A-01W-0634-09 ACCAGTCTTTAATAAACCAAATT ACCAGTCTTTAATAAACCAAATT Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d4ad0ff7-92fa-4c79-9e83-4408f8da83da a7dc1312-038d-49bb-b3e4-d52e0d09e4d8 12 32025230 32025252 ACCAGTCTTTAATAAACCAAATT - DEL C12orf35 NM_018169 human genbank 54_36p +1 validated frame_shift_del c.74_96 p.Q26fs 0.000:0.001:0.047:0.059:0.014:0.014:0.013:0.010:0.035:0.034:0.004:0.002:0.002:0.003:0.006:0.001:0.000:0.001:0.001:0.000:0.000:0.001:0.003 NULL NULL (deletion:cds_exon[32025157,32030158]) no_errors CYP21A2 1589 genome.wustl.edu 36 6 32114194 32114196 + In_Frame_Del DEL CTG CTG - novel unknown TCGA-29-1785-01A-01W-0633-09 TCGA-29-1785-10A-01W-0634-09 CTG CTG Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d4ad0ff7-92fa-4c79-9e83-4408f8da83da a7dc1312-038d-49bb-b3e4-d52e0d09e4d8 6 32114194 32114196 CTG - DEL CYP21A2 NM_000500 human genbank 54_36p +1 reviewed in_frame_del c.16_18 p.L9in_frame_del 0.796:0.973:0.975 NULL superfamily_Cytochrome_P450,HMMPfam_p450,PatternScan_CYTOCHROME_P450 (deletion:cds_exon[32114179,32114380]) no_errors ZNF485 220992 genome.wustl.edu 36 10 43432362 43432362 + Frame_Shift_Del DEL C C - novel unknown TCGA-29-1785-01A-01W-0633-09 TCGA-29-1785-10A-01W-0634-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d4ad0ff7-92fa-4c79-9e83-4408f8da83da a7dc1312-038d-49bb-b3e4-d52e0d09e4d8 10 43432362 43432362 C - DEL ZNF485 NM_145312 human genbank 54_36p +1 validated frame_shift_del c.748 p.Q250fs 0.881 superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1 HMMSmart_KRAB,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1 (deletion:cds_exon[43431745,43432823]) no_errors CCDC142 84865 genome.wustl.edu 36 2 74555407 74555407 + Frame_Shift_Del DEL A A - novel unknown TCGA-29-1785-01A-01W-0633-09 TCGA-29-1785-10A-01W-0634-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d4ad0ff7-92fa-4c79-9e83-4408f8da83da a7dc1312-038d-49bb-b3e4-d52e0d09e4d8 2 74555407 74555407 A - DEL CCDC142 NM_032779 human genbank 54_36p -1 validated frame_shift_del c.2006 p.L669fs 0.820 NULL NULL (deletion:cds_exon[74555181,74555437]) no_errors KIAA1033 23325 genome.wustl.edu 36 12 104067621 104067622 + In_Frame_Ins INS - - TTT novel unknown TCGA-29-1785-01A-01W-0633-09 TCGA-29-1785-10A-01W-0634-09 - - Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d4ad0ff7-92fa-4c79-9e83-4408f8da83da a7dc1312-038d-49bb-b3e4-d52e0d09e4d8 12 104067621 104067622 - TTT INS KIAA1033 NM_015275 human genbank 54_36p +1 validated in_frame_ins c.2613_2614 p.873in_frame_insF 0.959:1.000 NULL NULL - no_errors FAM166A 401565 genome.wustl.edu 36 9 139258557 139258558 + Frame_Shift_Del DEL AG AG - novel unknown TCGA-29-1785-01A-01W-0633-09 TCGA-29-1785-10A-01W-0634-09 AG AG Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d4ad0ff7-92fa-4c79-9e83-4408f8da83da a7dc1312-038d-49bb-b3e4-d52e0d09e4d8 9 139258557 139258558 AG - DEL FAM166A NM_001001710 human genbank 54_36p -1 predicted frame_shift_del c.752_751 p.L251fs 0.001:0.002 NULL HMMPfam_DUF2475 (deletion:cds_exon[139258444,139258561]) no_errors SLC25A4 291 genome.wustl.edu 36 4 186303213 186303235 + Frame_Shift_Del DEL GGACCAGGTTGGCTGCTGATGTG GGACCAGGTTGGCTGCTGATGTG - novel unknown TCGA-29-1785-01A-01W-0633-09 TCGA-29-1785-10A-01W-0634-09 GGACCAGGTTGGCTGCTGATGTG GGACCAGGTTGGCTGCTGATGTG Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx d4ad0ff7-92fa-4c79-9e83-4408f8da83da a7dc1312-038d-49bb-b3e4-d52e0d09e4d8 4 186303213 186303235 GGACCAGGTTGGCTGCTGATGTG - DEL SLC25A4 NM_001151 human genbank 54_36p +1 validated frame_shift_del c.413_435 p.T139fs 1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.989:1.000:1.000:0.918:1.000:1.000:0.987:1.000:1.000:1.000 superfamily_Mitoch_carrier,HMMPfam_Mito_carr superfamily_Mitoch_carrier,HMMPfam_Mito_carr (deletion:cds_exon[186302912,186303398]) no_errors