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 MYT1L 23040 genome.wustl.edu 36 2 1905921 1905921 + Silent SNP G G A novel unknown TCGA-04-1638-01A-01W-0639-09 TCGA-04-1638-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e987ddbb-58d8-4346-b91a-c733fdf8e585 489ca7cf-fb85-418d-8025-90afc71936d7 2 1905921 1905921 G A SNP MYT1L NM_015025 human genbank 54_36p -1 validated silent c.627 p.G209 1.000 NULL superfamily_SSF103637,HMMPfam_zf-C2HC,HMMPfam_MYT1,PatternScan_EF_HAND_1 - no_errors TSC2 7249 genome.wustl.edu 36 16 2047110 2047110 + Missense_Mutation SNP A A G novel unknown TCGA-04-1638-01A-01W-0639-09 TCGA-04-1638-11A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e987ddbb-58d8-4346-b91a-c733fdf8e585 489ca7cf-fb85-418d-8025-90afc71936d7 16 2047110 2047110 A G SNP TSC2 NM_000548 human genbank 54_36p +1 reviewed missense c.778 p.M260V 1.000 superfamily_ARM repeat superfamily_ARM repeat,HMMPfam_Tuberin,superfamily_Rap/Ran-GAP (Pfam 02145),HMMPfam_Rap_GAP - no_errors CSMD1 64478 genome.wustl.edu 36 8 2807498 2807498 + Nonsense_Mutation SNP G G A novel unknown TCGA-04-1638-01A-01W-0639-09 TCGA-04-1638-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e987ddbb-58d8-4346-b91a-c733fdf8e585 489ca7cf-fb85-418d-8025-90afc71936d7 8 2807498 2807498 G A SNP CSMD1 NM_033225 human genbank 54_36p -1 validated nonsense c.9529 p.R3177* 0.943 NULL superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042,superfamily_Complement control module/SCR domain,HMMPfam_Sushi,HMMSmart_SM00032 - pseudogene:no_stop_codon:bad_bp_length_for_coding_region NUP98 4928 genome.wustl.edu 36 11 3738423 3738423 + Missense_Mutation SNP C C T novel unknown TCGA-04-1638-01A-01W-0639-09 TCGA-04-1638-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e987ddbb-58d8-4346-b91a-c733fdf8e585 489ca7cf-fb85-418d-8025-90afc71936d7 11 3738423 3738423 C T SNP NUP98 NM_016320 human genbank 54_36p -1 reviewed missense c.1096 p.G366S 1.000 NULL superfamily_SSF88633,HMMPfam_Nucleoporin2,superfamily_Peptidase_S59 - no_errors CXCL16 58191 genome.wustl.edu 36 17 4585337 4585337 + Missense_Mutation SNP G C C novel unknown TCGA-04-1638-01A-01W-0639-09 TCGA-04-1638-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e987ddbb-58d8-4346-b91a-c733fdf8e585 489ca7cf-fb85-418d-8025-90afc71936d7 17 4585337 4585337 G C SNP CXCL16 NM_001100812 human genbank 54_36p -1 validated missense c.574 p.H192D 0.001 NULL NULL - no_errors EMG1 10436 genome.wustl.edu 36 12 6955213 6955213 + Missense_Mutation SNP A A C novel unknown TCGA-04-1638-01A-01W-0639-09 TCGA-04-1638-11A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e987ddbb-58d8-4346-b91a-c733fdf8e585 489ca7cf-fb85-418d-8025-90afc71936d7 12 6955213 6955213 A C SNP EMG1 ENST00000261406 human ensembl 54_36p +1 known missense c.713 p.E238A 1.000 NULL HMMPfam_EMG1 - no_errors A2M 2 genome.wustl.edu 36 12 9145376 9145376 + Silent SNP G G A novel unknown TCGA-04-1638-01A-01W-0639-09 TCGA-04-1638-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e987ddbb-58d8-4346-b91a-c733fdf8e585 489ca7cf-fb85-418d-8025-90afc71936d7 12 9145376 9145376 G A SNP A2M NM_000014 human genbank 54_36p -1 reviewed silent c.1428 p.V476 0.087 HMMPfam_A2M_N_2 PatternScan_TONB_DEPENDENT_REC_1,HMMPfam_A2M_N,HMMPfam_A2M_N_2,HMMPfam_A2M,superfamily_Terpenoid cyclases/Protein prenyltransferases,HMMPfam_Thiol-ester_cl,PatternScan_ALPHA_2_MACROGLOBULIN,HMMPfam_A2M_comp,superfamily_Alpha-macroglobulin receptor domain,HMMPfam_A2M_recep - no_errors P2RY11 5032 genome.wustl.edu 36 19 10085596 10085596 + Missense_Mutation SNP C T T novel unknown TCGA-04-1638-01A-01W-0639-09 TCGA-04-1638-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e987ddbb-58d8-4346-b91a-c733fdf8e585 489ca7cf-fb85-418d-8025-90afc71936d7 19 10085596 10085596 C T SNP P2RY11 NM_002566 human genbank 54_36p +1 reviewed missense c.307 p.R103C 1.000 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 EIF4G2 1982 genome.wustl.edu 36 11 10778677 10778677 + Missense_Mutation SNP C C G novel unknown TCGA-04-1638-01A-01W-0639-09 TCGA-04-1638-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e987ddbb-58d8-4346-b91a-c733fdf8e585 489ca7cf-fb85-418d-8025-90afc71936d7 11 10778677 10778677 C G SNP EIF4G2 NM_001418 human genbank 54_36p -1 reviewed missense c.1738 p.E580Q 1.000 HMMPfam_MA3,HMMSmart_SM00544 superfamily_ARM repeat,HMMPfam_MIF4G,HMMSmart_SM00543,HMMPfam_MA3,HMMSmart_SM00544,HMMSmart_SM00515,HMMPfam_W2 - no_start_codon SNORD3B-1 0 genome.wustl.edu 36 17 18905970 18905970 + RNA SNP C C T novel unknown TCGA-04-1638-01A-01W-0639-09 TCGA-04-1638-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e987ddbb-58d8-4346-b91a-c733fdf8e585 489ca7cf-fb85-418d-8025-90afc71936d7 17 18905970 18905970 C T SNP SNORD3B-1 ENST00000363359 human ensembl 54_36p +1 known rna NULL NULL 1.000 - - - no_errors SNORD3A 0 genome.wustl.edu 36 17 19031942 19031942 + RNA SNP C C T novel unknown TCGA-04-1638-01A-01W-0639-09 TCGA-04-1638-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e987ddbb-58d8-4346-b91a-c733fdf8e585 489ca7cf-fb85-418d-8025-90afc71936d7 17 19031942 19031942 C T SNP SNORD3A ENST00000365494 human ensembl 54_36p +1 known rna NULL NULL 1.000 - - - no_errors LOC727914 727914 genome.wustl.edu 36 15 19631108 19631108 + RNA SNP T T A novel unknown TCGA-04-1638-01A-01W-0639-09 TCGA-04-1638-11A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e987ddbb-58d8-4346-b91a-c733fdf8e585 489ca7cf-fb85-418d-8025-90afc71936d7 15 19631108 19631108 T A SNP LOC727914 XR_015142 human genbank 54_36p +1 model rna NULL NULL 1.000 - - - pseudogene DSG4 147409 genome.wustl.edu 36 18 27240204 27240204 + Silent SNP G G A novel unknown TCGA-04-1638-01A-01W-0639-09 TCGA-04-1638-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e987ddbb-58d8-4346-b91a-c733fdf8e585 489ca7cf-fb85-418d-8025-90afc71936d7 18 27240204 27240204 G A SNP DSG4 NM_177986 human genbank 54_36p +1 validated silent c.1803 p.A601 0.086 NULL superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1 - no_errors KIAA0556 23247 genome.wustl.edu 36 16 27668532 27668532 + Missense_Mutation SNP C C T novel unknown TCGA-04-1638-01A-01W-0639-09 TCGA-04-1638-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e987ddbb-58d8-4346-b91a-c733fdf8e585 489ca7cf-fb85-418d-8025-90afc71936d7 16 27668532 27668532 C T SNP KIAA0556 NM_015202 human genbank 54_36p +1 validated missense c.2750 p.T917M 1.000 NULL superfamily_Galactose-binding domain-like,PatternScan_AKH - no_errors KIF13B 23303 genome.wustl.edu 36 8 29060931 29060931 + Missense_Mutation SNP G G A novel unknown TCGA-04-1638-01A-01W-0639-09 TCGA-04-1638-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e987ddbb-58d8-4346-b91a-c733fdf8e585 489ca7cf-fb85-418d-8025-90afc71936d7 8 29060931 29060931 G A SNP KIF13B NM_015254 human genbank 54_36p -1 validated missense c.1921 p.R641W 0.896 NULL HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Kinesin,PatternScan_KINESIN_MOTOR_DOMAIN1,superfamily_SMAD/FHA domain,HMMPfam_FHA,superfamily_Cap-Gly domain,HMMPfam_CAP_GLY,PatternScan_CAP_GLY_1 - no_errors SLC5A2 6524 genome.wustl.edu 36 16 31406867 31406867 + Missense_Mutation SNP T T C novel unknown TCGA-04-1638-01A-01W-0639-09 TCGA-04-1638-11A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e987ddbb-58d8-4346-b91a-c733fdf8e585 489ca7cf-fb85-418d-8025-90afc71936d7 16 31406867 31406867 T C SNP SLC5A2 NM_003041 human genbank 54_36p +1 validated missense c.893 p.V298A 1.000 HMMPfam_SSF HMMPfam_SSF,PatternScan_NA_SOLUT_SYMP_1,PatternScan_NA_SOLUT_SYMP_2 - no_errors C12orf35 55196 genome.wustl.edu 36 12 32025660 32025660 + Missense_Mutation SNP G G C novel unknown TCGA-04-1638-01A-01W-0639-09 TCGA-04-1638-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e987ddbb-58d8-4346-b91a-c733fdf8e585 489ca7cf-fb85-418d-8025-90afc71936d7 12 32025660 32025660 G C SNP C12orf35 NM_018169 human genbank 54_36p +1 validated missense c.504 p.M168I 0.001 NULL NULL - no_errors NOTCH4 4855 genome.wustl.edu 36 6 32278063 32278063 + Missense_Mutation SNP C C T novel unknown TCGA-04-1638-01A-01W-0639-09 TCGA-04-1638-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e987ddbb-58d8-4346-b91a-c733fdf8e585 489ca7cf-fb85-418d-8025-90afc71936d7 6 32278063 32278063 C T SNP NOTCH4 NM_004557 human genbank 54_36p -1 reviewed missense c.3523 p.A1175T 0.003 superfamily_EGF/Laminin,HMMSmart_SM00004,HMMPfam_Notch,superfamily_Notch domain HMMSmart_SM00181,HMMPfam_EGF,HMMSmart_SM00179,superfamily_EGF/Laminin,PatternScan_EGF_1,PatternScan_EGF_2,PatternScan_EGF_CA,HMMPfam_EGF_CA,PatternScan_ASX_HYDROXYL,superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00004,HMMPfam_Notch,superfamily_Notch domain,HMMPfam_NODP,superfamily_Ankyrin repeat,HMMPfam_Ank,HMMSmart_SM00248 - no_errors TAF1L 138474 genome.wustl.edu 36 9 32624143 32624143 + Missense_Mutation SNP C C T novel unknown TCGA-04-1638-01A-01W-0639-09 TCGA-04-1638-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e987ddbb-58d8-4346-b91a-c733fdf8e585 489ca7cf-fb85-418d-8025-90afc71936d7 9 32624143 32624143 C T SNP TAF1L NM_153809 human genbank 54_36p -1 provisional missense c.1435 p.D479N 0.998 NULL HMMPfam_TBP-binding,superfamily_TAF_II_230,superfamily_Bromodomain,HMMSmart_BROMO,HMMPfam_Bromodomain,PatternScan_BROMODOMAIN_1 - no_errors MGAT3 4248 genome.wustl.edu 36 22 38214126 38214126 + Missense_Mutation SNP C C A novel unknown TCGA-04-1638-01A-01W-0639-09 TCGA-04-1638-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e987ddbb-58d8-4346-b91a-c733fdf8e585 489ca7cf-fb85-418d-8025-90afc71936d7 22 38214126 38214126 C A SNP MGAT3 NM_001098270 human genbank 54_36p +1 reviewed missense c.828 p.H276Q 1.000 HMMPfam_Glyco_transf_17 HMMPfam_Glyco_transf_17 - no_errors SCN10A 6336 genome.wustl.edu 36 3 38810281 38810281 + Silent SNP G G A novel unknown TCGA-04-1638-01A-01W-0639-09 TCGA-04-1638-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e987ddbb-58d8-4346-b91a-c733fdf8e585 489ca7cf-fb85-418d-8025-90afc71936d7 3 38810281 38810281 G A SNP SCN10A NM_006514 human genbank 54_36p -1 validated silent c.225 p.I75 0.084 NULL superfamily_SSF81324,HMMPfam_Ion_trans,HMMPfam_Na_trans_assoc - no_errors KLB 152831 genome.wustl.edu 36 4 39126506 39126506 + Silent SNP A G G novel unknown TCGA-04-1638-01A-01W-0639-09 TCGA-04-1638-11A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e987ddbb-58d8-4346-b91a-c733fdf8e585 489ca7cf-fb85-418d-8025-90afc71936d7 4 39126506 39126506 A G SNP KLB NM_175737 human genbank 54_36p +1 validated silent c.2940 p.Q980 0.000 superfamily_Glyco_hydro_cat PatternScan_GLYCOSYL_HYDROL_F1_1,PatternScan_GLYCOSYL_HYDROL_F1_2,HMMPfam_Glyco_hydro_1,superfamily_Glyco_hydro_cat - no_errors MACF1 23499 genome.wustl.edu 36 1 39666333 39666333 + Missense_Mutation SNP G G C novel unknown TCGA-04-1638-01A-01W-0639-09 TCGA-04-1638-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e987ddbb-58d8-4346-b91a-c733fdf8e585 489ca7cf-fb85-418d-8025-90afc71936d7 1 39666333 39666333 G C SNP MACF1 NM_033044 human genbank 54_36p +1 reviewed missense c.11910 p.K3970N 0.995 superfamily_Spectrin,HMMPfam_Spectrin,HMMSmart_SPEC superfamily_SSF75399,HMMSmart_PLEC,HMMPfam_Plectin,HMMPfam_Spectrin,superfamily_Spectrin,HMMSmart_SPEC,PatternScan_GLYCOSYL_HYDROL_F5,superfamily_SSF47473,HMMSmart_EFh,HMMPfam_efhand,PatternScan_EF_HAND_1,HMMPfam_GAS2,HMMSmart_GAS2 - no_errors ZSWIM1 90204 genome.wustl.edu 36 20 43945056 43945056 + Missense_Mutation SNP G G C novel unknown TCGA-04-1638-01A-01W-0639-09 TCGA-04-1638-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e987ddbb-58d8-4346-b91a-c733fdf8e585 489ca7cf-fb85-418d-8025-90afc71936d7 20 43945056 43945056 G C SNP ZSWIM1 NM_080603 human genbank 54_36p +1 provisional missense c.418 p.E140Q 0.941 NULL HMMPfam_SWIM - no_errors PRKCE 5581 genome.wustl.edu 36 2 46060955 46060955 + Silent SNP C C T novel unknown TCGA-04-1638-01A-01W-0639-09 TCGA-04-1638-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e987ddbb-58d8-4346-b91a-c733fdf8e585 489ca7cf-fb85-418d-8025-90afc71936d7 2 46060955 46060955 C T SNP PRKCE NM_005400 human genbank 54_36p +1 reviewed silent c.624 p.V208 1.000 superfamily_Cysteine-rich domain,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,HMMPfam_C1_1 superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239,HMMPfam_C2,superfamily_Cysteine-rich domain,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,HMMPfam_C1_1,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST,HMMSmart_SM00133,HMMPfam_Pkinase_C - no_errors RB1 5925 genome.wustl.edu 36 13 47853569 47853569 + Missense_Mutation SNP G C C novel unknown TCGA-04-1638-01A-01W-0639-09 TCGA-04-1638-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e987ddbb-58d8-4346-b91a-c733fdf8e585 489ca7cf-fb85-418d-8025-90afc71936d7 13 47853569 47853569 G C SNP RB1 NM_000321 human genbank 54_36p +1 reviewed missense c.1684 p.A562P 1.000 HMMPfam_RB_A,superfamily_Cyclin-like HMMPfam_RB_A,superfamily_Cyclin-like,HMMPfam_RB_B,HMMSmart_SM00385,HMMPfam_Rb_C - no_errors CRISP2 7180 genome.wustl.edu 36 6 49774114 49774114 + Missense_Mutation SNP T T G novel unknown TCGA-04-1638-01A-01W-0639-09 TCGA-04-1638-11A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e987ddbb-58d8-4346-b91a-c733fdf8e585 489ca7cf-fb85-418d-8025-90afc71936d7 6 49774114 49774114 T G SNP CRISP2 NM_003296 human genbank 54_36p -1 validated missense c.337 p.S113R 0.992 superfamily_PR-1-like,HMMSmart_SM00198,HMMPfam_SCP superfamily_PR-1-like,HMMSmart_SM00198,HMMPfam_SCP,PatternScan_CRISP_1,PatternScan_CRISP_2,HMMPfam_Crisp - no_errors RSHL1 81492 genome.wustl.edu 36 19 50999774 50999774 + Missense_Mutation SNP G A A novel unknown TCGA-04-1638-01A-01W-0639-09 TCGA-04-1638-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e987ddbb-58d8-4346-b91a-c733fdf8e585 489ca7cf-fb85-418d-8025-90afc71936d7 19 50999774 50999774 G A SNP RSHL1 NM_030785 human genbank 54_36p -1 reviewed missense c.1229 p.P410L 1.000 HMMPfam_Radial_spoke HMMPfam_Radial_spoke - no_errors KRT6A 3853 genome.wustl.edu 36 12 51167967 51167967 + Missense_Mutation SNP G G T novel unknown TCGA-04-1638-01A-01W-0639-09 TCGA-04-1638-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e987ddbb-58d8-4346-b91a-c733fdf8e585 489ca7cf-fb85-418d-8025-90afc71936d7 12 51167967 51167967 G T SNP KRT6A NM_005554 human genbank 54_36p -1 reviewed missense c.1499 p.A500D 0.149 NULL HMMPfam_Filament,PatternScan_IF - no_errors PSME4 23198 genome.wustl.edu 36 2 53982141 53982141 + Silent SNP A A G novel unknown TCGA-04-1638-01A-01W-0639-09 TCGA-04-1638-11A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e987ddbb-58d8-4346-b91a-c733fdf8e585 489ca7cf-fb85-418d-8025-90afc71936d7 2 53982141 53982141 A G SNP PSME4 NM_014614 human genbank 54_36p -1 validated silent c.2793 p.D931 0.996 superfamily_ARM repeat superfamily_ARM repeat,HMMPfam_HEAT - no_errors PTOV1 53635 genome.wustl.edu 36 19 55055089 55055089 + Missense_Mutation SNP G G T novel unknown TCGA-04-1638-01A-01W-0639-09 TCGA-04-1638-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e987ddbb-58d8-4346-b91a-c733fdf8e585 489ca7cf-fb85-418d-8025-90afc71936d7 19 55055089 55055089 G T SNP PTOV1 NM_017432 human genbank 54_36p +1 provisional missense c.1076 p.C359F 0.997 NULL PatternScan_AA_TRNA_LIGASE_I - no_errors OR8K5 219453 genome.wustl.edu 36 11 55683539 55683539 + Missense_Mutation SNP A A C novel unknown TCGA-04-1638-01A-01W-0639-09 TCGA-04-1638-11A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e987ddbb-58d8-4346-b91a-c733fdf8e585 489ca7cf-fb85-418d-8025-90afc71936d7 11 55683539 55683539 A C SNP OR8K5 NM_001004058 human genbank 54_36p -1 validated missense c.831 p.F277L 0.003 superfamily_SSF81321,HMMPfam_7tm_1 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors SIGLEC14 0 genome.wustl.edu 36 19 56841404 56841404 + Silent SNP C C T novel unknown TCGA-04-1638-01A-01W-0639-09 TCGA-04-1638-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e987ddbb-58d8-4346-b91a-c733fdf8e585 489ca7cf-fb85-418d-8025-90afc71936d7 19 56841404 56841404 C T SNP SIGLEC14 NM_001098612 human genbank 54_36p -1 validated silent c.339 p.T113 0.000 superfamily_SSF48726,HMMPfam_V-set,HMMSmart_IG superfamily_SSF48726,HMMPfam_V-set,HMMSmart_IG,HMMPfam_ig,HMMSmart_IGc2,PatternScan_IG_MHC - no_errors LAMA5 3911 genome.wustl.edu 36 20 60317822 60317822 + Missense_Mutation SNP C T T novel unknown TCGA-04-1638-01A-01W-0639-09 TCGA-04-1638-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e987ddbb-58d8-4346-b91a-c733fdf8e585 489ca7cf-fb85-418d-8025-90afc71936d7 20 60317822 60317822 C T SNP LAMA5 NM_005560 human genbank 54_36p -1 reviewed missense c.11053 p.G3685R 0.989 superfamily_Concanavalin A-like lectins/glucanases HMMSmart_SM00136,HMMPfam_Laminin_N,superfamily_Galactose-binding domain-like,HMMPfam_Laminin_EGF,HMMSmart_SM00180,superfamily_EGF/Laminin,PatternScan_EGF_1,PatternScan_EGF_LAM_1,HMMSmart_SM00181,PatternScan_EGF_2,HMMSmart_SM00281,HMMPfam_Laminin_B,PatternScan_TNFR_NGFR_1,HMMPfam_Laminin_I,HMMPfam_Laminin_II,superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00282,HMMPfam_Laminin_G_2 - no_errors TLN2 83660 genome.wustl.edu 36 15 60899860 60899860 + Missense_Mutation SNP A A G novel unknown TCGA-04-1638-01A-01W-0639-09 TCGA-04-1638-11A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e987ddbb-58d8-4346-b91a-c733fdf8e585 489ca7cf-fb85-418d-8025-90afc71936d7 15 60899860 60899860 A G SNP TLN2 NM_015059 human genbank 54_36p +1 reviewed missense c.7000 p.K2334E 1.000 superfamily_SSF109885 PatternScan_FERM_1,HMMSmart_B41,HMMPfam_FERM_N,superfamily_FERM_3-hlx,HMMPfam_FERM_M,PatternScan_FERM_2,superfamily_SSF50729,superfamily_Talin_cent,HMMPfam_Talin_middle,superfamily_SSF109885,HMMPfam_VBS,HMMSmart_ILWEQ,HMMPfam_I_LWEQ - no_errors PRIC285 85441 genome.wustl.edu 36 20 61667535 61667535 + Silent SNP G G A novel unknown TCGA-04-1638-01A-01W-0639-09 TCGA-04-1638-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e987ddbb-58d8-4346-b91a-c733fdf8e585 489ca7cf-fb85-418d-8025-90afc71936d7 20 61667535 61667535 G A SNP PRIC285 NM_001037335 human genbank 54_36p -1 reviewed silent c.3084 p.D1028 0.000 NULL PatternScan_ZINC_FINGER_C2H2_1,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_RNB,PatternScan_RIBONUCLEASE_II - no_errors ASL 435 genome.wustl.edu 36 7 65195004 65195004 + Missense_Mutation SNP C C G novel unknown TCGA-04-1638-01A-01W-0639-09 TCGA-04-1638-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e987ddbb-58d8-4346-b91a-c733fdf8e585 489ca7cf-fb85-418d-8025-90afc71936d7 7 65195004 65195004 C G SNP ASL NM_000048 human genbank 54_36p +1 reviewed missense c.1169 p.A390G 0.900 superfamily_L-Aspartase-like HMMPfam_Lyase_1,superfamily_L-Aspartase-like,PatternScan_FUMARATE_LYASES - no_errors MAST4 23227 genome.wustl.edu 36 5 66492098 66492098 + Missense_Mutation SNP G G T novel unknown TCGA-04-1638-01A-01W-0639-09 TCGA-04-1638-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e987ddbb-58d8-4346-b91a-c733fdf8e585 489ca7cf-fb85-418d-8025-90afc71936d7 5 66492098 66492098 G T SNP MAST4 NM_015183 human genbank 54_36p +1 validated missense c.3140 p.G1047V 1.000 superfamily_PDZ HMMPfam_DUF1908,superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ST,HMMSmart_S_TK_X,HMMPfam_Pkinase_C,superfamily_PDZ,HMMSmart_PDZ,HMMPfam_PDZ - no_errors COL19A1 1310 genome.wustl.edu 36 6 70910875 70910875 + Missense_Mutation SNP A A T novel unknown TCGA-04-1638-01A-01W-0639-09 TCGA-04-1638-11A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e987ddbb-58d8-4346-b91a-c733fdf8e585 489ca7cf-fb85-418d-8025-90afc71936d7 6 70910875 70910875 A T SNP COL19A1 NM_001858 human genbank 54_36p +1 reviewed missense c.1679 p.K560M 1.000 HMMPfam_Collagen HMMSmart_TSPN,superfamily_ConA_like_lec_gl,HMMPfam_Collagen - no_errors ZNF516 9658 genome.wustl.edu 36 18 72220983 72220983 + Missense_Mutation SNP T T C novel unknown TCGA-04-1638-01A-01W-0639-09 TCGA-04-1638-11A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e987ddbb-58d8-4346-b91a-c733fdf8e585 489ca7cf-fb85-418d-8025-90afc71936d7 18 72220983 72220983 T C SNP ZNF516 ENST00000217537 human ensembl 54_36p -1 known missense c.2075 p.E692G 0.000 NULL superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1 - no_errors ZFYVE1 53349 genome.wustl.edu 36 14 72510568 72510568 + Missense_Mutation SNP C C T novel unknown TCGA-04-1638-01A-01W-0639-09 TCGA-04-1638-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e987ddbb-58d8-4346-b91a-c733fdf8e585 489ca7cf-fb85-418d-8025-90afc71936d7 14 72510568 72510568 C T SNP ZFYVE1 NM_021260 human genbank 54_36p -1 reviewed missense c.2074 p.V692M 0.994 NULL superfamily_P-loop containing nucleoside triphosphate hydrolases,superfamily_FYVE/PHD zinc finger,HMMSmart_SM00064,HMMPfam_FYVE - no_errors LOC728748 728748 genome.wustl.edu 36 X 73535548 73535548 + RNA SNP T T C novel unknown TCGA-04-1638-01A-01W-0639-09 TCGA-04-1638-11A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e987ddbb-58d8-4346-b91a-c733fdf8e585 489ca7cf-fb85-418d-8025-90afc71936d7 X 73535548 73535548 T C SNP LOC728748 XR_037583 human genbank 54_36p -1 model rna NULL NULL 0.637 - - - pseudogene LOXL3 84695 genome.wustl.edu 36 2 74616267 74616267 + Missense_Mutation SNP C C T novel unknown TCGA-04-1638-01A-01W-0639-09 TCGA-04-1638-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e987ddbb-58d8-4346-b91a-c733fdf8e585 489ca7cf-fb85-418d-8025-90afc71936d7 2 74616267 74616267 C T SNP LOXL3 NM_032603 human genbank 54_36p -1 reviewed missense c.1372 p.A458T 1.000 superfamily_Srcr_receptor,HMMSmart_SR,HMMPfam_SRCR superfamily_Srcr_receptor,HMMSmart_SR,HMMPfam_SRCR,PatternScan_SRCR_1,HMMPfam_Lysyl_oxidase,PatternScan_LYSYL_OXIDASE - no_errors VAT1L 57687 genome.wustl.edu 36 16 76569061 76569061 + Missense_Mutation SNP G G A novel unknown TCGA-04-1638-01A-01W-0639-09 TCGA-04-1638-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e987ddbb-58d8-4346-b91a-c733fdf8e585 489ca7cf-fb85-418d-8025-90afc71936d7 16 76569061 76569061 G A SNP VAT1L NM_020927 human genbank 54_36p +1 provisional missense c.1228 p.E410K 1.000 NULL superfamily_GroES_like,HMMPfam_ADH_N,superfamily_NAD(P)-bd,HMMPfam_ADH_zinc_N,PatternScan_QOR_ZETA_CRYSTAL - no_errors C10orf58 84293 genome.wustl.edu 36 10 82177120 82177120 + Missense_Mutation SNP G G A novel unknown TCGA-04-1638-01A-01W-0639-09 TCGA-04-1638-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e987ddbb-58d8-4346-b91a-c733fdf8e585 489ca7cf-fb85-418d-8025-90afc71936d7 10 82177120 82177120 G A SNP C10orf58 NM_032333 human genbank 54_36p +1 validated missense c.464 p.R155H 0.992 NULL superfamily_Thiordxn-like_fd - no_errors LOC645961 0 genome.wustl.edu 36 9 89936971 89936971 + RNA SNP C C T novel unknown TCGA-04-1638-01A-01W-0639-09 TCGA-04-1638-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e987ddbb-58d8-4346-b91a-c733fdf8e585 489ca7cf-fb85-418d-8025-90afc71936d7 9 89936971 89936971 C T SNP LOC645961 XR_040572 human genbank 54_36p -1 model rna NULL NULL 0.052 - - - no_errors TMEFF1 8577 genome.wustl.edu 36 9 102374728 102374728 + Missense_Mutation SNP T T C novel unknown TCGA-04-1638-01A-01W-0639-09 TCGA-04-1638-11A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e987ddbb-58d8-4346-b91a-c733fdf8e585 489ca7cf-fb85-418d-8025-90afc71936d7 9 102374728 102374728 T C SNP TMEFF1 NM_003692 human genbank 54_36p +1 validated missense c.1007 p.I336T 1.000 NULL superfamily_Kazal-type serine protease inhibitors,HMMSmart_SM00280,HMMPfam_Kazal_1,superfamily_EGF/Laminin,HMMPfam_EGF,PatternScan_EGF_1,PatternScan_EGF_2 - no_errors IRS4 8471 genome.wustl.edu 36 X 107863872 107863872 + Missense_Mutation SNP C T T novel unknown TCGA-04-1638-01A-01W-0639-09 TCGA-04-1638-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e987ddbb-58d8-4346-b91a-c733fdf8e585 489ca7cf-fb85-418d-8025-90afc71936d7 X 107863872 107863872 C T SNP IRS4 NM_003604 human genbank 54_36p -1 reviewed missense c.2359 p.G787S 0.992 NULL superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH,HMMPfam_IRS,HMMSmart_PTBI - no_errors RANBP2 5903 genome.wustl.edu 36 2 108734495 108734495 + Missense_Mutation SNP C C T novel unknown TCGA-04-1638-01A-01W-0639-09 TCGA-04-1638-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e987ddbb-58d8-4346-b91a-c733fdf8e585 489ca7cf-fb85-418d-8025-90afc71936d7 2 108734495 108734495 C T SNP RANBP2 NM_006267 human genbank 54_36p +1 reviewed missense c.1535 p.P512L 0.962 NULL superfamily_SSF48452,HMMPfam_TPR_1,superfamily_SSF50729,HMMSmart_RanBD,HMMPfam_Ran_BP1,HMMPfam_zf-RanBP,HMMSmart_ZnF_RBZ,PatternScan_ZF_RANBP2_1,superfamily_CSA_PPIase,HMMPfam_Pro_isomerase,PatternScan_CSA_PPIASE_1 - no_errors LOC100128588 0 genome.wustl.edu 36 6 112754054 112754054 + Missense_Mutation SNP G G C novel unknown TCGA-04-1638-01A-01W-0639-09 TCGA-04-1638-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e987ddbb-58d8-4346-b91a-c733fdf8e585 489ca7cf-fb85-418d-8025-90afc71936d7 6 112754054 112754054 G C SNP LOC100128588 XM_001723020 human genbank 54_36p -1 model missense c.545 p.A182G 0.001 NULL HMMSmart_SM00443,HMMPfam_G-patch - no_errors ANK2 287 genome.wustl.edu 36 4 114473796 114473796 + Missense_Mutation SNP T T C novel unknown TCGA-04-1638-01A-01W-0639-09 TCGA-04-1638-11A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e987ddbb-58d8-4346-b91a-c733fdf8e585 489ca7cf-fb85-418d-8025-90afc71936d7 4 114473796 114473796 T C SNP ANK2 NM_001148 human genbank 54_36p +1 reviewed missense c.3362 p.L1121P 1.000 NULL superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank,HMMPfam_ZU5,PatternScan_ALDEHYDE_DEHYDR_GLU,superfamily_DEATH_like,HMMSmart_DEATH,HMMPfam_Death - no_errors FLJ30428 150519 genome.wustl.edu 36 2 131777147 131777147 + Nonsense_Mutation SNP G G T novel unknown TCGA-04-1638-01A-01W-0639-09 TCGA-04-1638-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e987ddbb-58d8-4346-b91a-c733fdf8e585 489ca7cf-fb85-418d-8025-90afc71936d7 2 131777147 131777147 G T SNP FLJ30428 XM_001723916 human genbank 54_36p +1 model nonsense c.154 p.G52* 0.999 NULL NULL - no_errors TAAR9 134860 genome.wustl.edu 36 6 132902076 132902076 + Missense_Mutation SNP G G C novel unknown TCGA-04-1638-01A-01W-0639-09 TCGA-04-1638-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e987ddbb-58d8-4346-b91a-c733fdf8e585 489ca7cf-fb85-418d-8025-90afc71936d7 6 132902076 132902076 G C SNP TAAR9 NM_175057 human genbank 54_36p +1 reviewed missense c.955 p.G319R 0.879 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 - pseudogene DUX1 26584 genome.wustl.edu 36 10 135341031 135341031 + Missense_Mutation SNP C C A novel unknown TCGA-04-1638-01A-01W-0639-09 TCGA-04-1638-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e987ddbb-58d8-4346-b91a-c733fdf8e585 489ca7cf-fb85-418d-8025-90afc71936d7 10 135341031 135341031 C A SNP DUX1 NM_012146 human genbank 54_36p +1 provisional missense c.469 p.P157T 0.996 NULL superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox - no_stop_codon NOBOX 135935 genome.wustl.edu 36 7 143732630 143732630 + Silent SNP G G A novel unknown TCGA-04-1638-01A-01W-0639-09 TCGA-04-1638-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e987ddbb-58d8-4346-b91a-c733fdf8e585 489ca7cf-fb85-418d-8025-90afc71936d7 7 143732630 143732630 G A SNP NOBOX NM_001080413 human genbank 54_36p -1 provisional silent c.162 p.S54 0.000 NULL superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox - no_errors IQGAP3 128239 genome.wustl.edu 36 1 154770217 154770217 + Silent SNP C C T novel unknown TCGA-04-1638-01A-01W-0639-09 TCGA-04-1638-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e987ddbb-58d8-4346-b91a-c733fdf8e585 489ca7cf-fb85-418d-8025-90afc71936d7 1 154770217 154770217 C T SNP IQGAP3 NM_178229 human genbank 54_36p -1 validated silent c.3948 p.G1316 0.991 superfamily_Rho_GAP,HMMSmart_RasGAP superfamily_Calponin-homology,HMMPfam_CH,HMMSmart_CH,HMMSmart_IQ,superfamily_SSF52540,HMMPfam_IQ,superfamily_Rho_GAP,HMMSmart_RasGAP,HMMPfam_RasGAP,PatternScan_RAS_GTPASE_ACTIV_1,HMMPfam_RasGAP_C - no_errors SPTA1 6708 genome.wustl.edu 36 1 156899134 156899134 + Missense_Mutation SNP C C T novel unknown TCGA-04-1638-01A-01W-0639-09 TCGA-04-1638-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e987ddbb-58d8-4346-b91a-c733fdf8e585 489ca7cf-fb85-418d-8025-90afc71936d7 1 156899134 156899134 C T SNP SPTA1 NM_003126 human genbank 54_36p -1 reviewed missense c.2446 p.A816T 0.976 superfamily_Spectrin repeat,HMMPfam_Spectrin,HMMSmart_SM00150 superfamily_Spectrin repeat,HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_EF-hand,HMMPfam_efhand_Ca_insen - no_errors USP13 8975 genome.wustl.edu 36 3 180853744 180853744 + Missense_Mutation SNP G G A novel unknown TCGA-04-1638-01A-01W-0639-09 TCGA-04-1638-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e987ddbb-58d8-4346-b91a-c733fdf8e585 489ca7cf-fb85-418d-8025-90afc71936d7 3 180853744 180853744 G A SNP USP13 NM_003940 human genbank 54_36p +1 validated missense c.37 p.G13S 1.000 NULL 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 HMCN1 83872 genome.wustl.edu 36 1 184306510 184306510 + Missense_Mutation SNP C C A novel unknown TCGA-04-1638-01A-01W-0639-09 TCGA-04-1638-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e987ddbb-58d8-4346-b91a-c733fdf8e585 489ca7cf-fb85-418d-8025-90afc71936d7 1 184306510 184306510 C A SNP HMCN1 NM_031935 human genbank 54_36p +1 reviewed missense c.8137 p.Q2713K 1.000 superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,HMMSmart_SM00406 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 CFH 3075 genome.wustl.edu 36 1 194920837 194920837 + Missense_Mutation SNP T T C novel unknown TCGA-04-1638-01A-01W-0639-09 TCGA-04-1638-11A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e987ddbb-58d8-4346-b91a-c733fdf8e585 489ca7cf-fb85-418d-8025-90afc71936d7 1 194920837 194920837 T C SNP CFH NM_000186 human genbank 54_36p +1 reviewed missense c.811 p.Y271H 0.023 superfamily_Complement control module/SCR domain,HMMPfam_Sushi,HMMSmart_SM00032 superfamily_Complement control module/SCR domain,HMMPfam_Sushi,HMMSmart_SM00032 - no_errors FAT3 120114 genome.wustl.edu 36 11 92174136 92174136 + Frame_Shift_Del DEL G G - novel unknown TCGA-04-1638-01A-01W-0639-09 TCGA-04-1638-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e987ddbb-58d8-4346-b91a-c733fdf8e585 489ca7cf-fb85-418d-8025-90afc71936d7 11 92174136 92174136 G - DEL FAT3 NM_001008781 human genbank 54_36p +1 validated frame_shift_del c.8309 p.R2770fs 0.993 superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112 superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Concanavalin A-like lectins/glucanases,superfamily_EGF/Laminin,HMMSmart_SM00181,HMMSmart_SM00282,HMMPfam_Laminin_G_2,HMMSmart_SM00179,HMMPfam_EGF,PatternScan_EGF_1,PatternScan_EGF_CA,PatternScan_ASX_HYDROXYL,PatternScan_EGF_2 (deletion:cds_exon[92170650,92174723]) no_errors USH2A 7399 genome.wustl.edu 36 1 213915057 213915058 + Frame_Shift_Del DEL AT AT - novel unknown TCGA-04-1638-01A-01W-0639-09 TCGA-04-1638-11A-01W-0639-09 AT AT Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx e987ddbb-58d8-4346-b91a-c733fdf8e585 489ca7cf-fb85-418d-8025-90afc71936d7 1 213915057 213915058 AT - DEL USH2A NM_206933 human genbank 54_36p -1 reviewed frame_shift_del c.12819_12818 p.Y4273fs 0.000:0.002 superfamily_Fibronectin type III,HMMPfam_fn3,HMMSmart_SM00060 superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00560,HMMSmart_SM00136,HMMPfam_Laminin_N,HMMPfam_Laminin_EGF,HMMSmart_SM00180,superfamily_EGF/Laminin,PatternScan_EGF_LAM_1,PatternScan_EGF_1,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3,HMMSmart_SM00282,HMMPfam_Laminin_G_2 (deletion:cds_exon[213914065,213915581]) no_errors