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-ND3 4537 genome.wustl.edu 36 MT 10198 10198 + Missense_Mutation SNP G G A novel unknown TCGA-24-1843-01A-01W-0639-09 TCGA-24-1843-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22cd9936-9f48-447f-99b3-619f703e15c7 ed14c55e-68c3-4245-ab35-6401a92781ef MT 10198 10198 G A SNP MT-ND3 ENST00000361227 human ensembl 54_36p +1 known missense c.139 p.A47T NULL HMMPfam_Oxidored_q4 HMMPfam_Oxidored_q4 - no_stop_codon:bad_bp_length_for_coding_region PSMF1 9491 genome.wustl.edu 36 20 1093091 1093091 + Silent SNP C C A novel unknown TCGA-24-1843-01A-01W-0639-09 TCGA-24-1843-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22cd9936-9f48-447f-99b3-619f703e15c7 ed14c55e-68c3-4245-ab35-6401a92781ef 20 1093091 1093091 C A SNP PSMF1 NM_006814 human genbank 54_36p +1 reviewed silent c.735 p.P245 1.000 HMMPfam_PI31_Prot_Reg HMMPfam_PI31_Prot_Reg - no_errors OR52M1 119772 genome.wustl.edu 36 11 4523364 4523364 + Missense_Mutation SNP A A G novel unknown TCGA-24-1843-01A-01W-0639-09 TCGA-24-1843-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22cd9936-9f48-447f-99b3-619f703e15c7 ed14c55e-68c3-4245-ab35-6401a92781ef 11 4523364 4523364 A G SNP OR52M1 NM_001004137 human genbank 54_36p +1 provisional missense c.368 p.D123G 1.000 superfamily_SSF81321,HMMPfam_7tm_1 PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1 - no_errors OR52E8 390079 genome.wustl.edu 36 11 5835016 5835016 + Missense_Mutation SNP G G T novel unknown TCGA-24-1843-01A-01W-0639-09 TCGA-24-1843-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22cd9936-9f48-447f-99b3-619f703e15c7 ed14c55e-68c3-4245-ab35-6401a92781ef 11 5835016 5835016 G T SNP OR52E8 NM_001005168 human genbank 54_36p -1 provisional missense c.493 p.L165M 0.000 superfamily_SSF81321,HMMPfam_7tm_1 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors OR52E5 390082 genome.wustl.edu 36 11 5878702 5878702 + Silent SNP C G G novel unknown TCGA-24-1843-01A-01W-0639-09 TCGA-24-1843-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22cd9936-9f48-447f-99b3-619f703e15c7 ed14c55e-68c3-4245-ab35-6401a92781ef 11 5878702 5878702 C G SNP OR52E5 ENST00000316698 human ensembl 54_36p +1 known silent c.120 p.A40 0.000 superfamily_Family A G protein-coupled receptor-like superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors PMS2CL 441194 genome.wustl.edu 36 7 6743900 6743900 + RNA SNP G G A novel unknown TCGA-24-1843-01A-01W-0639-09 TCGA-24-1843-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22cd9936-9f48-447f-99b3-619f703e15c7 ed14c55e-68c3-4245-ab35-6401a92781ef 7 6743900 6743900 G A SNP PMS2CL NR_002217 human genbank 54_36p +1 provisional rna NULL NULL 0.316 - - - pseudogene LAMA1 284217 genome.wustl.edu 36 18 6940797 6940797 + Missense_Mutation SNP T T A novel unknown TCGA-24-1843-01A-01W-0639-09 TCGA-24-1843-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22cd9936-9f48-447f-99b3-619f703e15c7 ed14c55e-68c3-4245-ab35-6401a92781ef 18 6940797 6940797 T A SNP LAMA1 NM_005559 human genbank 54_36p -1 validated missense c.8381 p.D2794V 0.995 superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00282,HMMPfam_Laminin_G_1 HMMSmart_SM00136,HMMPfam_Laminin_N,superfamily_Galactose-binding domain-like,HMMPfam_Laminin_EGF,HMMSmart_SM00180,superfamily_Concanavalin A-like lectins/glucanases,PatternScan_EGF_1,PatternScan_EGF_LAM_1,HMMSmart_SM00181,superfamily_EGF/Laminin,PatternScan_EGF_2,HMMSmart_SM00281,HMMPfam_Laminin_B,HMMPfam_Laminin_I,HMMPfam_Laminin_II,HMMSmart_SM00282,HMMPfam_Laminin_G_1,HMMPfam_Laminin_G_2 - no_errors TP53 7157 genome.wustl.edu 36 17 7514707 7514707 + Nonsense_Mutation SNP C C A novel unknown TCGA-24-1843-01A-01W-0639-09 TCGA-24-1843-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22cd9936-9f48-447f-99b3-619f703e15c7 ed14c55e-68c3-4245-ab35-6401a92781ef 17 7514707 7514707 C A SNP TP53 NM_000546 human genbank 54_36p -1 reviewed nonsense c.1045 p.E349* 1.000 HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain HMMPfam_P53_TAD,HMMPfam_P53,superfamily_p53-like transcription factors,PatternScan_P53,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain - no_errors CHD3 1107 genome.wustl.edu 36 17 7739071 7739071 + Missense_Mutation SNP G G C novel unknown TCGA-24-1843-01A-01W-0639-09 TCGA-24-1843-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22cd9936-9f48-447f-99b3-619f703e15c7 ed14c55e-68c3-4245-ab35-6401a92781ef 17 7739071 7739071 G C SNP CHD3 NM_001005271 human genbank 54_36p +1 reviewed missense c.1516 p.V506L 0.999 PatternScan_ZF_PHD_1,superfamily_FYVE/PHD zinc finger,HMMSmart_SM00249,HMMPfam_PHD HMMPfam_CHDNT,superfamily_FYVE/PHD zinc finger,HMMSmart_SM00249,HMMPfam_PHD,PatternScan_ZF_PHD_1,HMMSmart_SM00298,superfamily_Chromo domain-like,HMMPfam_Chromo,superfamily_P-loop containing nucleoside triphosphate hydrolases,PatternScan_CHROMO_1,HMMSmart_SM00487,HMMPfam_SNF2_N,PatternScan_DEAH_ATP_HELICASE,HMMSmart_SM00490,HMMPfam_Helicase_C,HMMPfam_DUF1087,HMMPfam_DUF1086,HMMPfam_CHDCT2 - no_errors WDR16 146845 genome.wustl.edu 36 17 9479479 9479479 + Silent SNP G G A novel unknown TCGA-24-1843-01A-01W-0639-09 TCGA-24-1843-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22cd9936-9f48-447f-99b3-619f703e15c7 ed14c55e-68c3-4245-ab35-6401a92781ef 17 9479479 9479479 G A SNP WDR16 NM_145054 human genbank 54_36p +1 validated silent c.1353 p.Q451 0.999 superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40 superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40,PatternScan_WD_REPEATS_1 - no_errors S1PR2 9294 genome.wustl.edu 36 19 10196255 10196255 + Missense_Mutation SNP C C A novel unknown TCGA-24-1843-01A-01W-0639-09 TCGA-24-1843-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22cd9936-9f48-447f-99b3-619f703e15c7 ed14c55e-68c3-4245-ab35-6401a92781ef 19 10196255 10196255 C A SNP S1PR2 NM_004230 human genbank 54_36p -1 validated missense c.327 p.E109D 1.000 superfamily_SSF81321,HMMPfam_7tm_1 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors PTCHD2 57540 genome.wustl.edu 36 1 11485465 11485465 + Missense_Mutation SNP C C T novel unknown TCGA-24-1843-01A-01W-0639-09 TCGA-24-1843-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22cd9936-9f48-447f-99b3-619f703e15c7 ed14c55e-68c3-4245-ab35-6401a92781ef 1 11485465 11485465 C T SNP PTCHD2 NM_020780 human genbank 54_36p +1 validated missense c.1240 p.R414C 1.000 HMMPfam_Patched HMMPfam_Patched,superfamily_Multidrug efflux transporter AcrB transmembrane domain - no_errors GSTM1L 2945 genome.wustl.edu 36 3 12274332 12274332 + RNA SNP A A T novel unknown TCGA-24-1843-01A-01W-0639-09 TCGA-24-1843-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22cd9936-9f48-447f-99b3-619f703e15c7 ed14c55e-68c3-4245-ab35-6401a92781ef 3 12274332 12274332 A T SNP GSTM1L NR_003112 human genbank 54_36p -1 provisional rna NULL NULL 0.995 - - - pseudogene SPTLC3 55304 genome.wustl.edu 36 20 13046259 13046259 + Missense_Mutation SNP A A T novel unknown TCGA-24-1843-01A-01W-0639-09 TCGA-24-1843-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22cd9936-9f48-447f-99b3-619f703e15c7 ed14c55e-68c3-4245-ab35-6401a92781ef 20 13046259 13046259 A T SNP SPTLC3 NM_018327 human genbank 54_36p +1 validated missense c.1039 p.T347S 0.697 superfamily_PLP-dependent transferases,HMMPfam_Aminotran_1_2 superfamily_PLP-dependent transferases,HMMPfam_Aminotran_1_2,PatternScan_AA_TRANSFER_CLASS_2 - no_errors LOC644422 644422 genome.wustl.edu 36 17 16461104 16461104 + RNA SNP C C T novel unknown TCGA-24-1843-01A-01W-0639-09 TCGA-24-1843-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22cd9936-9f48-447f-99b3-619f703e15c7 ed14c55e-68c3-4245-ab35-6401a92781ef 17 16461104 16461104 C T SNP LOC644422 XR_017541 human genbank 54_36p -1 model rna NULL NULL 1.000 - - - pseudogene TAS1R2 80834 genome.wustl.edu 36 1 19058640 19058640 + Silent SNP G G T novel unknown TCGA-24-1843-01A-01W-0639-09 TCGA-24-1843-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22cd9936-9f48-447f-99b3-619f703e15c7 ed14c55e-68c3-4245-ab35-6401a92781ef 1 19058640 19058640 G T SNP TAS1R2 NM_152232 human genbank 54_36p -1 validated silent c.102 p.L34 0.994 superfamily_SSF53822 PatternScan_G_PROTEIN_RECEP_F3_1,PatternScan_G_PROTEIN_RECEP_F3_3,superfamily_SSF53822,HMMPfam_ANF_receptor,HMMPfam_NCD3G,superfamily_SSF57586,PatternScan_G_PROTEIN_RECEP_F3_2,HMMPfam_7tm_3 - no_errors SPAG5 10615 genome.wustl.edu 36 17 23936268 23936268 + Silent SNP C C A novel unknown TCGA-24-1843-01A-01W-0639-09 TCGA-24-1843-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22cd9936-9f48-447f-99b3-619f703e15c7 ed14c55e-68c3-4245-ab35-6401a92781ef 17 23936268 23936268 C A SNP SPAG5 NM_006461 human genbank 54_36p -1 reviewed silent c.2046 p.V682 0.362 NULL NULL - no_errors CRYBA4 1413 genome.wustl.edu 36 22 25354284 25354284 + Missense_Mutation SNP G G C novel unknown TCGA-24-1843-01A-01W-0639-09 TCGA-24-1843-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22cd9936-9f48-447f-99b3-619f703e15c7 ed14c55e-68c3-4245-ab35-6401a92781ef 22 25354284 25354284 G C SNP CRYBA4 NM_001886 human genbank 54_36p +1 reviewed missense c.333 p.E111D 1.000 superfamily_G_crystallin_SF,HMMPfam_Crystall,HMMSmart_XTALbg superfamily_G_crystallin_SF,HMMPfam_Crystall,HMMSmart_XTALbg - no_errors BTNL2 56244 genome.wustl.edu 36 6 32478729 32478729 + Missense_Mutation SNP C C T novel unknown TCGA-24-1843-01A-01W-0639-09 TCGA-24-1843-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22cd9936-9f48-447f-99b3-619f703e15c7 ed14c55e-68c3-4245-ab35-6401a92781ef 6 32478729 32478729 C T SNP BTNL2 NM_019602 human genbank 54_36p -1 validated missense c.670 p.V224I 0.000 superfamily_Immunoglobulin,HMMPfam_C2-set_2,HMMSmart_SM00407 superfamily_Immunoglobulin,HMMPfam_V-set,HMMSmart_SM00409,HMMSmart_SM00406,HMMPfam_C2-set_2,HMMSmart_SM00407 - no_errors KIAA1755 85449 genome.wustl.edu 36 20 36303275 36303275 + Missense_Mutation SNP G G T novel unknown TCGA-24-1843-01A-01W-0639-09 TCGA-24-1843-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22cd9936-9f48-447f-99b3-619f703e15c7 ed14c55e-68c3-4245-ab35-6401a92781ef 20 36303275 36303275 G T SNP KIAA1755 NM_001029864 human genbank 54_36p -1 predicted missense c.672 p.D224E 0.002 NULL superfamily_Spectrin repeat - no_errors KRTAP4-6 81871 genome.wustl.edu 36 17 36549882 36549882 + Missense_Mutation SNP C C G novel unknown TCGA-24-1843-01A-01W-0639-09 TCGA-24-1843-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22cd9936-9f48-447f-99b3-619f703e15c7 ed14c55e-68c3-4245-ab35-6401a92781ef 17 36549882 36549882 C G SNP KRTAP4-6 XM_926610 human genbank 54_36p -1 model missense c.620 p.S207T 0.277 NULL NULL - no_errors KLHL11 55175 genome.wustl.edu 36 17 37264303 37264303 + Missense_Mutation SNP G G C novel unknown TCGA-24-1843-01A-01W-0639-09 TCGA-24-1843-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22cd9936-9f48-447f-99b3-619f703e15c7 ed14c55e-68c3-4245-ab35-6401a92781ef 17 37264303 37264303 G C SNP KLHL11 NM_018143 human genbank 54_36p -1 provisional missense c.1342 p.L448V 1.000 superfamily_Gal_oxid_central,HMMSmart_Kelch,HMMPfam_Kelch_1 superfamily_BTB/POZ_fold,HMMPfam_BTB,HMMSmart_BTB,HMMPfam_BACK,superfamily_Gal_oxid_central,HMMSmart_Kelch,HMMPfam_Kelch_1 - no_errors TLR1 7096 genome.wustl.edu 36 4 38475331 38475331 + Missense_Mutation SNP G G A novel unknown TCGA-24-1843-01A-01W-0639-09 TCGA-24-1843-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22cd9936-9f48-447f-99b3-619f703e15c7 ed14c55e-68c3-4245-ab35-6401a92781ef 4 38475331 38475331 G A SNP TLR1 NM_003263 human genbank 54_36p -1 reviewed missense c.1517 p.S506L 0.989 superfamily_L domain-like superfamily_L domain-like,HMMSmart_SM00369,HMMPfam_LRR_1,superfamily_Outer arm dynein light chain 1,HMMSmart_SM00364,HMMSmart_SM00082,HMMPfam_LRRCT,superfamily_Toll/Interleukin receptor TIR domain,HMMSmart_SM00255,HMMPfam_TIR - no_errors TLR1 7096 genome.wustl.edu 36 4 38476795 38476795 + Missense_Mutation SNP C C A novel unknown TCGA-24-1843-01A-01W-0639-09 TCGA-24-1843-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22cd9936-9f48-447f-99b3-619f703e15c7 ed14c55e-68c3-4245-ab35-6401a92781ef 4 38476795 38476795 C A SNP TLR1 NM_003263 human genbank 54_36p -1 reviewed missense c.53 p.R18I 0.000 superfamily_L domain-like HMMPfam_TIR,HMMSmart_SM00255,superfamily_Toll/Interleukin receptor TIR domain,HMMPfam_LRRCT,HMMSmart_SM00082,HMMPfam_LRR_1,HMMSmart_SM00369,HMMSmart_SM00364,superfamily_L domain-like,superfamily_Outer arm dynein light chain 1 - no_errors DNAH8 1769 genome.wustl.edu 36 6 39050214 39050214 + Silent SNP G G C novel unknown TCGA-24-1843-01A-01W-0639-09 TCGA-24-1843-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22cd9936-9f48-447f-99b3-619f703e15c7 ed14c55e-68c3-4245-ab35-6401a92781ef 6 39050214 39050214 G C SNP DNAH8 NM_001371 human genbank 54_36p +1 validated silent c.12114 p.L4038 1.000 HMMPfam_Dynein_heavy HMMPfam_DHC_N1,HMMPfam_DHC_N2,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,PatternScan_THIOL_PROTEASE_HIS,HMMPfam_AAA_5,HMMPfam_Dynein_heavy - no_errors ZFP14 57677 genome.wustl.edu 36 19 41543181 41543181 + Silent SNP G G A novel unknown TCGA-24-1843-01A-01W-0639-09 TCGA-24-1843-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22cd9936-9f48-447f-99b3-619f703e15c7 ed14c55e-68c3-4245-ab35-6401a92781ef 19 41543181 41543181 G A SNP ZFP14 NM_020917 human genbank 54_36p -1 provisional silent c.231 p.C77 0.002 NULL superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1 - no_errors DGKH 160851 genome.wustl.edu 36 13 41681556 41681556 + Missense_Mutation SNP C C G novel unknown TCGA-24-1843-01A-01W-0639-09 TCGA-24-1843-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22cd9936-9f48-447f-99b3-619f703e15c7 ed14c55e-68c3-4245-ab35-6401a92781ef 13 41681556 41681556 C G SNP DGKH NM_178009 human genbank 54_36p +1 reviewed missense c.2805 p.I935M 0.999 NULL superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,superfamily_Cysteine-rich domain,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,HMMPfam_C1_1,HMMPfam_DAGK_cat,HMMSmart_SM00046,HMMPfam_DAGK_acc,HMMSmart_SM00045,superfamily_SAM/Pointed domain,HMMSmart_SM00454,HMMPfam_SAM_2 - no_errors IPO13 9670 genome.wustl.edu 36 1 44195471 44195471 + Missense_Mutation SNP C C T novel unknown TCGA-24-1843-01A-01W-0639-09 TCGA-24-1843-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22cd9936-9f48-447f-99b3-619f703e15c7 ed14c55e-68c3-4245-ab35-6401a92781ef 1 44195471 44195471 C T SNP IPO13 NM_014652 human genbank 54_36p +1 reviewed missense c.1289 p.T430M 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold,HMMPfam_IBN_N,HMMPfam_Xpo1 - no_errors MED29 55588 genome.wustl.edu 36 19 44574005 44574005 + Missense_Mutation SNP C T T novel unknown TCGA-24-1843-01A-01W-0639-09 TCGA-24-1843-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22cd9936-9f48-447f-99b3-619f703e15c7 ed14c55e-68c3-4245-ab35-6401a92781ef 19 44574005 44574005 C T SNP MED29 NM_017592 human genbank 54_36p +1 provisional missense c.166 p.P56S 0.923 NULL NULL - no_errors KRTAP10-5 386680 genome.wustl.edu 36 21 44824321 44824321 + Missense_Mutation SNP C C G novel unknown TCGA-24-1843-01A-01W-0639-09 TCGA-24-1843-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22cd9936-9f48-447f-99b3-619f703e15c7 ed14c55e-68c3-4245-ab35-6401a92781ef 21 44824321 44824321 C G SNP KRTAP10-5 NM_198694 human genbank 54_36p -1 reviewed missense c.563 p.C188S 0.006 HMMPfam_Keratin_B2 HMMPfam_Keratin_B2 - no_errors UROD 7389 genome.wustl.edu 36 1 45253614 45253614 + Missense_Mutation SNP G G A novel unknown TCGA-24-1843-01A-01W-0639-09 TCGA-24-1843-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22cd9936-9f48-447f-99b3-619f703e15c7 ed14c55e-68c3-4245-ab35-6401a92781ef 1 45253614 45253614 G A SNP UROD NM_000374 human genbank 54_36p +1 reviewed missense c.961 p.V321M 1.000 superfamily_UROD/MetE-like,HMMPfam_URO-D superfamily_UROD/MetE-like,HMMPfam_URO-D,PatternScan_UROD_1,PatternScan_UROD_2 - no_errors CHD9 80205 genome.wustl.edu 36 16 51820453 51820453 + Missense_Mutation SNP C C G novel unknown TCGA-24-1843-01A-01W-0639-09 TCGA-24-1843-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22cd9936-9f48-447f-99b3-619f703e15c7 ed14c55e-68c3-4245-ab35-6401a92781ef 16 51820453 51820453 C G SNP CHD9 NM_025134 human genbank 54_36p +1 validated missense c.2226 p.I742M 0.997 superfamily_Chromodomain-like,HMMSmart_CHROMO,HMMPfam_Chromo superfamily_Chromodomain-like,HMMSmart_CHROMO,HMMPfam_Chromo,superfamily_SSF52540,HMMSmart_DEXDc,HMMPfam_SNF2_N,HMMSmart_HELICc,HMMPfam_Helicase_C,HMMPfam_BRK,HMMSmart_BRK - no_errors GPR137C 283554 genome.wustl.edu 36 14 52136691 52136691 + Missense_Mutation SNP C C A novel unknown TCGA-24-1843-01A-01W-0639-09 TCGA-24-1843-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22cd9936-9f48-447f-99b3-619f703e15c7 ed14c55e-68c3-4245-ab35-6401a92781ef 14 52136691 52136691 C A SNP GPR137C NM_001099652 human genbank 54_36p +1 provisional missense c.599 p.T200N 1.000 NULL NULL - no_errors ITGA2 3673 genome.wustl.edu 36 5 52398838 52398838 + Nonsense_Mutation SNP C C T novel unknown TCGA-24-1843-01A-01W-0639-09 TCGA-24-1843-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22cd9936-9f48-447f-99b3-619f703e15c7 ed14c55e-68c3-4245-ab35-6401a92781ef 5 52398838 52398838 C T SNP ITGA2 NM_002203 human genbank 54_36p +1 reviewed nonsense c.2077 p.Q693* 0.936 HMMPfam_Integrin_alpha2,superfamily_Integrin domains superfamily_Integrin alpha N-terminal domain,HMMSmart_SM00191,superfamily_vWA-like,HMMSmart_SM00327,HMMPfam_VWA,HMMPfam_FG-GAP,HMMPfam_Integrin_alpha2,superfamily_Integrin domains,PatternScan_INTEGRIN_ALPHA,HMMPfam_Integrin_alpha - no_errors ITIH5L 347365 genome.wustl.edu 36 X 54802029 54802029 + Silent SNP C C T novel unknown TCGA-24-1843-01A-01W-0639-09 TCGA-24-1843-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22cd9936-9f48-447f-99b3-619f703e15c7 ed14c55e-68c3-4245-ab35-6401a92781ef X 54802029 54802029 C T SNP ITIH5L NM_198510 human genbank 54_36p -1 provisional silent c.1203 p.T401 0.334 superfamily_SSF53300,HMMSmart_VWA,HMMPfam_VWA HMMSmart_VIT,HMMPfam_VIT,superfamily_SSF53300,HMMSmart_VWA,HMMPfam_VWA,HMMPfam_ITI_HC_C - no_errors SSRP1 6749 genome.wustl.edu 36 11 56850475 56850475 + Silent SNP C C T novel unknown TCGA-24-1843-01A-01W-0639-09 TCGA-24-1843-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22cd9936-9f48-447f-99b3-619f703e15c7 ed14c55e-68c3-4245-ab35-6401a92781ef 11 56850475 56850475 C T SNP SSRP1 NM_003146 human genbank 54_36p -1 reviewed silent c.2112 p.A704 0.265 NULL HMMPfam_SSrecog,superfamily_HMG-box,HMMSmart_HMG,HMMPfam_HMG_box - no_errors ZNF479 90827 genome.wustl.edu 36 7 57192236 57192236 + Missense_Mutation SNP T T A novel unknown TCGA-24-1843-01A-01W-0639-09 TCGA-24-1843-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22cd9936-9f48-447f-99b3-619f703e15c7 ed14c55e-68c3-4245-ab35-6401a92781ef 7 57192236 57192236 T A SNP ZNF479 NM_033273 human genbank 54_36p -1 provisional missense c.828 p.Q276H 0.006 superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1 superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-C2H2 - no_errors RPSAP52 0 genome.wustl.edu 36 12 64438475 64438475 + Silent SNP T T C novel unknown TCGA-24-1843-01A-01W-0639-09 TCGA-24-1843-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22cd9936-9f48-447f-99b3-619f703e15c7 ed14c55e-68c3-4245-ab35-6401a92781ef 12 64438475 64438475 T C SNP RPSAP52 ENST00000379004 human ensembl 54_36p -1 known silent c.315 p.Q105 1.000 NULL NULL - no_errors HYDIN 54768 genome.wustl.edu 36 16 69728753 69728753 + Missense_Mutation SNP T T C novel unknown TCGA-24-1843-01A-01W-0639-09 TCGA-24-1843-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22cd9936-9f48-447f-99b3-619f703e15c7 ed14c55e-68c3-4245-ab35-6401a92781ef 16 69728753 69728753 T C SNP HYDIN NM_032821 human genbank 54_36p -1 validated missense c.845 p.E282G 1.000 NULL superfamily_PapD-like,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors GOLGA6B 55889 genome.wustl.edu 36 15 70741851 70741851 + Missense_Mutation SNP T T C novel unknown TCGA-24-1843-01A-01W-0639-09 TCGA-24-1843-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22cd9936-9f48-447f-99b3-619f703e15c7 ed14c55e-68c3-4245-ab35-6401a92781ef 15 70741851 70741851 T C SNP GOLGA6B ENST00000268079 human ensembl 54_36p +1 known missense c.1052 p.V351A 0.441 NULL NULL - no_errors TRHDE 29953 genome.wustl.edu 36 12 71255583 71255583 + Missense_Mutation SNP T T A novel unknown TCGA-24-1843-01A-01W-0639-09 TCGA-24-1843-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22cd9936-9f48-447f-99b3-619f703e15c7 ed14c55e-68c3-4245-ab35-6401a92781ef 12 71255583 71255583 T A SNP TRHDE NM_013381 human genbank 54_36p +1 reviewed missense c.2180 p.L727Q 1.000 NULL superfamily_SSF63737,HMMPfam_Peptidase_M1,superfamily_SSF55486,PatternScan_ZINC_PROTEASE - no_errors CAPS2 84698 genome.wustl.edu 36 12 73973335 73973335 + Missense_Mutation SNP C C T novel unknown TCGA-24-1843-01A-01W-0639-09 TCGA-24-1843-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22cd9936-9f48-447f-99b3-619f703e15c7 ed14c55e-68c3-4245-ab35-6401a92781ef 12 73973335 73973335 C T SNP CAPS2 NM_032606 human genbank 54_36p -1 validated missense c.485 p.R162Q 1.000 NULL superfamily_SSF47473,HMMSmart_EFh - no_errors LMO7 4008 genome.wustl.edu 36 13 75307452 75307452 + Missense_Mutation SNP T T A novel unknown TCGA-24-1843-01A-01W-0639-09 TCGA-24-1843-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22cd9936-9f48-447f-99b3-619f703e15c7 ed14c55e-68c3-4245-ab35-6401a92781ef 13 75307452 75307452 T A SNP LMO7 NM_005358 human genbank 54_36p +1 reviewed missense c.2463 p.D821E 0.993 NULL superfamily_Calponin-homology,HMMSmart_CH,HMMPfam_CH,superfamily_PDZ,HMMSmart_PDZ,HMMPfam_PDZ,HMMSmart_LIM,PatternScan_LIM_DOMAIN_1,HMMPfam_LIM - no_errors LHX8 431707 genome.wustl.edu 36 1 75379291 75379291 + Missense_Mutation SNP T T C novel unknown TCGA-24-1843-01A-01W-0639-09 TCGA-24-1843-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22cd9936-9f48-447f-99b3-619f703e15c7 ed14c55e-68c3-4245-ab35-6401a92781ef 1 75379291 75379291 T C SNP LHX8 NM_001001933 human genbank 54_36p +1 validated missense c.301 p.S101P 1.000 HMMSmart_SM00132,PatternScan_LIM_DOMAIN_1,HMMPfam_LIM,superfamily_Glucocorticoid receptor-like (DNA-binding domain) superfamily_Glucocorticoid receptor-like (DNA-binding domain),HMMSmart_SM00132,PatternScan_LIM_DOMAIN_1,HMMPfam_LIM,superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1 - no_errors ROBO1 6091 genome.wustl.edu 36 3 78849125 78849125 + Missense_Mutation SNP G G A novel unknown TCGA-24-1843-01A-01W-0639-09 TCGA-24-1843-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22cd9936-9f48-447f-99b3-619f703e15c7 ed14c55e-68c3-4245-ab35-6401a92781ef 3 78849125 78849125 G A SNP ROBO1 NM_002941 human genbank 54_36p -1 reviewed missense c.907 p.P303S 1.000 superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,HMMSmart_SM00406 superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,HMMSmart_SM00406,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3 - no_errors VPS13A 23230 genome.wustl.edu 36 9 79174033 79174033 + Splice_Site SNP A A G novel unknown TCGA-24-1843-01A-01W-0639-09 TCGA-24-1843-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22cd9936-9f48-447f-99b3-619f703e15c7 ed14c55e-68c3-4245-ab35-6401a92781ef 9 79174033 79174033 A G SNP VPS13A NM_033305 human genbank 54_36p +1 reviewed splice_site c.8554-2 e63-2 1.000 - - - no_errors LOC642585 0 genome.wustl.edu 36 X 80072558 80072558 + RNA SNP C C A novel unknown TCGA-24-1843-01A-01W-0639-09 TCGA-24-1843-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22cd9936-9f48-447f-99b3-619f703e15c7 ed14c55e-68c3-4245-ab35-6401a92781ef X 80072558 80072558 C A SNP LOC642585 XR_038848 human genbank 54_36p +1 model rna NULL NULL 1.000 - - - pseudogene BNC1 646 genome.wustl.edu 36 15 81717627 81717627 + Missense_Mutation SNP C C G novel unknown TCGA-24-1843-01A-01W-0639-09 TCGA-24-1843-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22cd9936-9f48-447f-99b3-619f703e15c7 ed14c55e-68c3-4245-ab35-6401a92781ef 15 81717627 81717627 C G SNP BNC1 NM_001717 human genbank 54_36p -1 reviewed missense c.2556 p.E852D 0.997 NULL HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-C2H2 - no_errors SLITRK5 26050 genome.wustl.edu 36 13 87128473 87128473 + Silent SNP G G C novel unknown TCGA-24-1843-01A-01W-0639-09 TCGA-24-1843-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22cd9936-9f48-447f-99b3-619f703e15c7 ed14c55e-68c3-4245-ab35-6401a92781ef 13 87128473 87128473 G C SNP SLITRK5 NM_015567 human genbank 54_36p +1 validated silent c.2829 p.P943 1.000 NULL superfamily_L domain-like,HMMSmart_SM00369,HMMPfam_LRR_1,HMMSmart_SM00082,HMMPfam_LRRNT - no_errors BACH2 60468 genome.wustl.edu 36 6 90716962 90716962 + Silent SNP G G A novel unknown TCGA-24-1843-01A-01W-0639-09 TCGA-24-1843-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22cd9936-9f48-447f-99b3-619f703e15c7 ed14c55e-68c3-4245-ab35-6401a92781ef 6 90716962 90716962 G A SNP BACH2 NM_021813 human genbank 54_36p -1 validated silent c.1584 p.Y528 1.000 NULL superfamily_BTB/POZ_fold,HMMPfam_BTB,HMMSmart_BTB,superfamily_Euk_transcr_DNA,HMMSmart_BRLZ,PatternScan_BZIP_BASIC,HMMPfam_bZIP_1 - no_errors FAT3 120114 genome.wustl.edu 36 11 92232056 92232056 + Missense_Mutation SNP A A C novel unknown TCGA-24-1843-01A-01W-0639-09 TCGA-24-1843-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22cd9936-9f48-447f-99b3-619f703e15c7 ed14c55e-68c3-4245-ab35-6401a92781ef 11 92232056 92232056 A C SNP FAT3 NM_001008781 human genbank 54_36p +1 validated missense c.11578 p.K3860Q 1.000 superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00282 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 - no_errors PPP3CA 5530 genome.wustl.edu 36 4 102180708 102180708 + Missense_Mutation SNP T T G novel unknown TCGA-24-1843-01A-01W-0639-09 TCGA-24-1843-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22cd9936-9f48-447f-99b3-619f703e15c7 ed14c55e-68c3-4245-ab35-6401a92781ef 4 102180708 102180708 T G SNP PPP3CA NM_000944 human genbank 54_36p -1 validated missense c.1195 p.K399Q 1.000 superfamily_Metallo-dependent phosphatases superfamily_Metallo-dependent phosphatases,HMMSmart_SM00156,HMMPfam_Metallophos,PatternScan_SER_THR_PHOSPHATASE - no_errors TCP11L2 255394 genome.wustl.edu 36 12 105229024 105229024 + Missense_Mutation SNP A A T novel unknown TCGA-24-1843-01A-01W-0639-09 TCGA-24-1843-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22cd9936-9f48-447f-99b3-619f703e15c7 ed14c55e-68c3-4245-ab35-6401a92781ef 12 105229024 105229024 A T SNP TCP11L2 NM_152772 human genbank 54_36p +1 provisional missense c.41 p.Q14L 1.000 NULL HMMPfam_Tcp11 - no_errors COL4A6 1288 genome.wustl.edu 36 X 107334413 107334413 + Nonsense_Mutation SNP C C A novel unknown TCGA-24-1843-01A-01W-0639-09 TCGA-24-1843-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22cd9936-9f48-447f-99b3-619f703e15c7 ed14c55e-68c3-4245-ab35-6401a92781ef X 107334413 107334413 C A SNP COL4A6 ENST00000394872 human ensembl 54_36p -1 known nonsense c.655 p.E219* 0.039 NULL HMMPfam_Collagen,HMMPfam_C4,HMMSmart_C4,superfamily_C-type_lectin_fold - no_errors MYO16 23026 genome.wustl.edu 36 13 108116456 108116456 + Missense_Mutation SNP G G A novel unknown TCGA-24-1843-01A-01W-0639-09 TCGA-24-1843-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22cd9936-9f48-447f-99b3-619f703e15c7 ed14c55e-68c3-4245-ab35-6401a92781ef 13 108116456 108116456 G A SNP MYO16 NM_015011 human genbank 54_36p +1 validated missense c.184 p.D62N 0.997 superfamily_Ankyrin repeat superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00242,HMMPfam_Myosin_head,HMMPfam_IQ - no_errors FAM102B 284611 genome.wustl.edu 36 1 108972945 108972945 + Silent SNP G G A novel unknown TCGA-24-1843-01A-01W-0639-09 TCGA-24-1843-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22cd9936-9f48-447f-99b3-619f703e15c7 ed14c55e-68c3-4245-ab35-6401a92781ef 1 108972945 108972945 G A SNP FAM102B NM_001010883 human genbank 54_36p +1 validated silent c.873 p.A291 0.991 NULL HMMPfam_Eeig1 - no_errors GSTM4 2948 genome.wustl.edu 36 1 110003298 110003298 + Missense_Mutation SNP G G C novel unknown TCGA-24-1843-01A-01W-0639-09 TCGA-24-1843-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22cd9936-9f48-447f-99b3-619f703e15c7 ed14c55e-68c3-4245-ab35-6401a92781ef 1 110003298 110003298 G C SNP GSTM4 ENST00000369833 human ensembl 54_36p +1 known missense c.487 p.V163L 0.003 NULL superfamily_Thiordxn-like_fd,HMMPfam_GST_N,superfamily_GST_C_like,HMMPfam_GST_C - no_errors LRRN3 54674 genome.wustl.edu 36 7 110550761 110550761 + Missense_Mutation SNP G G T novel unknown TCGA-24-1843-01A-01W-0639-09 TCGA-24-1843-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22cd9936-9f48-447f-99b3-619f703e15c7 ed14c55e-68c3-4245-ab35-6401a92781ef 7 110550761 110550761 G T SNP LRRN3 NM_001099658 human genbank 54_36p +1 validated missense c.697 p.V233F 0.998 superfamily_L domain-like,HMMSmart_SM00369 superfamily_L domain-like,HMMSmart_SM00013,HMMSmart_SM00365,HMMSmart_SM00369,HMMPfam_LRR_1,HMMSmart_SM00082,HMMPfam_LRRCT,superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_fn3,superfamily_Fibronectin type III - no_errors LOC100128588 0 genome.wustl.edu 36 6 112754533 112754533 + Nonsense_Mutation SNP C C A novel unknown TCGA-24-1843-01A-01W-0639-09 TCGA-24-1843-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22cd9936-9f48-447f-99b3-619f703e15c7 ed14c55e-68c3-4245-ab35-6401a92781ef 6 112754533 112754533 C A SNP LOC100128588 XM_001723020 human genbank 54_36p -1 model nonsense c.112 p.E38* 0.916 HMMSmart_SM00443,HMMPfam_G-patch HMMSmart_SM00443,HMMPfam_G-patch - no_errors CSMD3 114788 genome.wustl.edu 36 8 113345143 113345143 + Missense_Mutation SNP T T C novel unknown TCGA-24-1843-01A-01W-0639-09 TCGA-24-1843-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22cd9936-9f48-447f-99b3-619f703e15c7 ed14c55e-68c3-4245-ab35-6401a92781ef 8 113345143 113345143 T C SNP CSMD3 NM_198123 human genbank 54_36p -1 validated missense c.9763 p.I3255V 1.000 superfamily_Complement control module/SCR domain,HMMPfam_Sushi,HMMSmart_SM00032 superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042,superfamily_Complement control module/SCR domain,HMMPfam_Sushi,HMMSmart_SM00032,PatternScan_GLYCOSYL_HYDROL_F10 - no_errors CLIP1 6249 genome.wustl.edu 36 12 121428106 121428106 + Missense_Mutation SNP G G A novel unknown TCGA-24-1843-01A-01W-0639-09 TCGA-24-1843-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22cd9936-9f48-447f-99b3-619f703e15c7 ed14c55e-68c3-4245-ab35-6401a92781ef 12 121428106 121428106 G A SNP CLIP1 NM_002956 human genbank 54_36p -1 validated missense c.440 p.S147L 0.978 NULL superfamily_Cap-Gly domain,HMMPfam_CAP_GLY,PatternScan_CAP_GLY_1 - no_errors PTPRZ1 5803 genome.wustl.edu 36 7 121437744 121437744 + Missense_Mutation SNP A A T novel unknown TCGA-24-1843-01A-01W-0639-09 TCGA-24-1843-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22cd9936-9f48-447f-99b3-619f703e15c7 ed14c55e-68c3-4245-ab35-6401a92781ef 7 121437744 121437744 A T SNP PTPRZ1 NM_002851 human genbank 54_36p +1 reviewed missense c.1408 p.I470L 0.000 NULL superfamily_Carbonic anhydrase,HMMPfam_Carb_anhydrase,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3,superfamily_(Phosphotyrosine protein) phosphatases II,HMMSmart_SM00194,HMMPfam_Y_phosphatase,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1 - no_errors SPAM1 6677 genome.wustl.edu 36 7 123387018 123387018 + Missense_Mutation SNP C C T novel unknown TCGA-24-1843-01A-01W-0639-09 TCGA-24-1843-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22cd9936-9f48-447f-99b3-619f703e15c7 ed14c55e-68c3-4245-ab35-6401a92781ef 7 123387018 123387018 C T SNP SPAM1 NM_003117 human genbank 54_36p +1 reviewed missense c.1289 p.S430F 0.373 NULL HMMPfam_Glyco_hydro_56,superfamily_Glyco_hydro_cat - no_errors DTX3L 151636 genome.wustl.edu 36 3 123770324 123770324 + Missense_Mutation SNP G G C novel unknown TCGA-24-1843-01A-01W-0639-09 TCGA-24-1843-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22cd9936-9f48-447f-99b3-619f703e15c7 ed14c55e-68c3-4245-ab35-6401a92781ef 3 123770324 123770324 G C SNP DTX3L NM_138287 human genbank 54_36p +1 validated missense c.698 p.S233T 0.000 NULL superfamily_SSF57850,HMMSmart_RING,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1 - no_errors OR8A1 390275 genome.wustl.edu 36 11 123945678 123945678 + Silent SNP C C A novel unknown TCGA-24-1843-01A-01W-0639-09 TCGA-24-1843-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22cd9936-9f48-447f-99b3-619f703e15c7 ed14c55e-68c3-4245-ab35-6401a92781ef 11 123945678 123945678 C A SNP OR8A1 NM_001005194 human genbank 54_36p +1 provisional silent c.504 p.I168 0.041 superfamily_SSF81321,HMMPfam_7tm_1 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors CNTNAP5 129684 genome.wustl.edu 36 2 125083962 125083962 + Missense_Mutation SNP T T A novel unknown TCGA-24-1843-01A-01W-0639-09 TCGA-24-1843-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22cd9936-9f48-447f-99b3-619f703e15c7 ed14c55e-68c3-4245-ab35-6401a92781ef 2 125083962 125083962 T A SNP CNTNAP5 NM_130773 human genbank 54_36p +1 reviewed missense c.1868 p.I623N 1.000 superfamily_ConA_like_lec_gl,superfamily_Fibrinogen_a/b/g_C PatternScan_FA58C_1,PatternScan_FIBRIN_AG_C_DOMAIN,PatternScan_EGF_1,PatternScan_EGF_2,HMMSmart_FA58C,superfamily_Gal_bind_like,HMMPfam_F5_F8_type_C,PatternScan_FA58C_2,superfamily_ConA_like_lec_gl,HMMSmart_LamG,HMMPfam_Laminin_G_2,HMMSmart_EGF,HMMPfam_EGF,superfamily_Fibrinogen_a/b/g_C - no_errors FLJ30058 158763 genome.wustl.edu 36 X 130046674 130046674 + Missense_Mutation SNP T T C novel unknown TCGA-24-1843-01A-01W-0639-09 TCGA-24-1843-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22cd9936-9f48-447f-99b3-619f703e15c7 ed14c55e-68c3-4245-ab35-6401a92781ef X 130046674 130046674 T C SNP FLJ30058 NM_144967 human genbank 54_36p +1 validated missense c.910 p.S304P 1.000 superfamily_GTPase activation domain GAP,HMMSmart_SM00324,HMMPfam_RhoGAP superfamily_GTPase activation domain GAP,HMMSmart_SM00324,HMMPfam_RhoGAP - no_errors EPB41L2 2037 genome.wustl.edu 36 6 131263990 131263990 + Missense_Mutation SNP C C G novel unknown TCGA-24-1843-01A-01W-0639-09 TCGA-24-1843-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22cd9936-9f48-447f-99b3-619f703e15c7 ed14c55e-68c3-4245-ab35-6401a92781ef 6 131263990 131263990 C G SNP EPB41L2 NM_001431 human genbank 54_36p -1 validated missense c.953 p.R318P 1.000 HMMSmart_B41,superfamily_FERM_3-hlx,HMMPfam_FERM_M 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_FA,HMMPfam_SAB,HMMPfam_4_1_CTD - no_errors ASTE1 28990 genome.wustl.edu 36 3 132226652 132226652 + Missense_Mutation SNP G G T novel unknown TCGA-24-1843-01A-01W-0639-09 TCGA-24-1843-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22cd9936-9f48-447f-99b3-619f703e15c7 ed14c55e-68c3-4245-ab35-6401a92781ef 3 132226652 132226652 G T SNP ASTE1 NM_014065 human genbank 54_36p -1 validated missense c.189 p.F63L 1.000 HMMPfam_XPG_N,superfamily_SSF88723 HMMPfam_XPG_N,superfamily_SSF88723 - no_errors PCDHA13 56136 genome.wustl.edu 36 5 140243480 140243480 + Silent SNP C C T novel unknown TCGA-24-1843-01A-01W-0639-09 TCGA-24-1843-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22cd9936-9f48-447f-99b3-619f703e15c7 ed14c55e-68c3-4245-ab35-6401a92781ef 5 140243480 140243480 C T SNP PCDHA13 NM_018904 human genbank 54_36p +1 reviewed silent c.1443 p.D481 0.962 superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112 superfamily_Cadherin-like,HMMPfam_Cadherin_2,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin - no_errors SLITRK4 139065 genome.wustl.edu 36 X 142545448 142545448 + Silent SNP C C T novel unknown TCGA-24-1843-01A-01W-0639-09 TCGA-24-1843-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22cd9936-9f48-447f-99b3-619f703e15c7 ed14c55e-68c3-4245-ab35-6401a92781ef X 142545448 142545448 C T SNP SLITRK4 NM_173078 human genbank 54_36p -1 validated silent c.1143 p.K381 1.000 superfamily_L domain-like superfamily_L domain-like,HMMSmart_SM00369,HMMPfam_LRR_1,HMMSmart_SM00365,HMMSmart_SM00082,HMMPfam_LRRNT - no_errors TM4SF1 4071 genome.wustl.edu 36 3 150575958 150575958 + Silent SNP G G A novel unknown TCGA-24-1843-01A-01W-0639-09 TCGA-24-1843-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22cd9936-9f48-447f-99b3-619f703e15c7 ed14c55e-68c3-4245-ab35-6401a92781ef 3 150575958 150575958 G A SNP TM4SF1 NM_014220 human genbank 54_36p -1 reviewed silent c.375 p.L125 0.000 HMMPfam_L6_membrane HMMPfam_L6_membrane - no_errors FAT2 2196 genome.wustl.edu 36 5 150911307 150911307 + Missense_Mutation SNP T T G novel unknown TCGA-24-1843-01A-01W-0639-09 TCGA-24-1843-10A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22cd9936-9f48-447f-99b3-619f703e15c7 ed14c55e-68c3-4245-ab35-6401a92781ef 5 150911307 150911307 T G SNP FAT2 NM_001447 human genbank 54_36p -1 reviewed missense c.4210 p.I1404L 0.972 superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112 superfamily_Cadherin-like,HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00282,HMMPfam_Laminin_G_2,superfamily_EGF/Laminin,HMMSmart_SM00179,HMMSmart_SM00181,HMMPfam_EGF,PatternScan_EGF_1,PatternScan_EGF_2 - no_errors SPRR2F 6705 genome.wustl.edu 36 1 151351700 151351700 + Missense_Mutation SNP C C A novel unknown TCGA-24-1843-01A-01W-0639-09 TCGA-24-1843-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22cd9936-9f48-447f-99b3-619f703e15c7 ed14c55e-68c3-4245-ab35-6401a92781ef 1 151351700 151351700 C A SNP SPRR2F NM_001014450 human genbank 54_36p -1 provisional missense c.134 p.C45F 0.821 NULL NULL - no_errors NEB 4703 genome.wustl.edu 36 2 152132050 152132050 + Missense_Mutation SNP C C T novel unknown TCGA-24-1843-01A-01W-0639-09 TCGA-24-1843-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22cd9936-9f48-447f-99b3-619f703e15c7 ed14c55e-68c3-4245-ab35-6401a92781ef 2 152132050 152132050 C T SNP NEB NM_004543 human genbank 54_36p -1 reviewed missense c.12931 p.A4311T 0.990 HMMSmart_SM00227 HMMSmart_SM00227,HMMPfam_Nebulin,superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326 - no_errors SPTA1 6708 genome.wustl.edu 36 1 156881610 156881610 + Missense_Mutation SNP C C T novel unknown TCGA-24-1843-01A-01W-0639-09 TCGA-24-1843-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22cd9936-9f48-447f-99b3-619f703e15c7 ed14c55e-68c3-4245-ab35-6401a92781ef 1 156881610 156881610 C T SNP SPTA1 NM_003126 human genbank 54_36p -1 reviewed missense c.4186 p.E1396K 1.000 superfamily_Spectrin repeat,HMMPfam_Spectrin superfamily_Spectrin repeat,HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_EF-hand,HMMPfam_efhand_Ca_insen - no_errors DARC 2532 genome.wustl.edu 36 1 157442362 157442362 + Missense_Mutation SNP C C T novel unknown TCGA-24-1843-01A-01W-0639-09 TCGA-24-1843-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22cd9936-9f48-447f-99b3-619f703e15c7 ed14c55e-68c3-4245-ab35-6401a92781ef 1 157442362 157442362 C T SNP DARC NM_002036 human genbank 54_36p +1 reviewed missense c.509 p.T170I 0.118 NULL NULL - no_errors GFM1 85476 genome.wustl.edu 36 3 159847348 159847348 + Missense_Mutation SNP C C T novel unknown TCGA-24-1843-01A-01W-0639-09 TCGA-24-1843-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22cd9936-9f48-447f-99b3-619f703e15c7 ed14c55e-68c3-4245-ab35-6401a92781ef 3 159847348 159847348 C T SNP GFM1 NM_024996 human genbank 54_36p +1 reviewed missense c.490 p.R164C 1.000 superfamily_SSF52540,HMMPfam_GTP_EFTU superfamily_SSF52540,HMMPfam_GTP_EFTU,PatternScan_EFACTOR_GTP,superfamily_Translat_factor,HMMPfam_GTP_EFTU_D2,superfamily_EFG_III_V,superfamily_Ribosomal_S5_D2-typ_fold,HMMPfam_EFG_IV,HMMPfam_EFG_C - no_errors LPA 4018 genome.wustl.edu 36 6 160931996 160931996 + Missense_Mutation SNP G G T novel unknown TCGA-24-1843-01A-01W-0639-09 TCGA-24-1843-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22cd9936-9f48-447f-99b3-619f703e15c7 ed14c55e-68c3-4245-ab35-6401a92781ef 6 160931996 160931996 G T SNP LPA NM_005577 human genbank 54_36p -1 validated missense c.3757 p.L1253I 0.000 superfamily_Kringle-like superfamily_Kringle-like,HMMSmart_SM00130,HMMPfam_Kringle,PatternScan_KRINGLE_1,superfamily_Trypsin-like serine proteases,HMMSmart_SM00020,HMMPfam_Trypsin,PatternScan_TRYPSIN_HIS,PatternScan_TRYPSIN_SER - no_errors SMOC2 64094 genome.wustl.edu 36 6 168692670 168692670 + Missense_Mutation SNP G G A novel unknown TCGA-24-1843-01A-01W-0639-09 TCGA-24-1843-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22cd9936-9f48-447f-99b3-619f703e15c7 ed14c55e-68c3-4245-ab35-6401a92781ef 6 168692670 168692670 G A SNP SMOC2 NM_022138 human genbank 54_36p +1 provisional missense c.608 p.R203H 0.994 superfamily_Thyroglobulin_1 superfamily_Thyroglobulin_1,HMMSmart_KAZAL,HMMPfam_Kazal_1,HMMPfam_Thyroglobulin_1,PatternScan_THYROGLOBULIN_1_1,HMMSmart_TY,superfamily_SSF47473,HMMSmart_EFh,PatternScan_EF_HAND_1,HMMPfam_SPARC_Ca_bdg - no_errors DDX60L 91351 genome.wustl.edu 36 4 169574448 169574448 + Missense_Mutation SNP C C A novel unknown TCGA-24-1843-01A-01W-0639-09 TCGA-24-1843-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22cd9936-9f48-447f-99b3-619f703e15c7 ed14c55e-68c3-4245-ab35-6401a92781ef 4 169574448 169574448 C A SNP DDX60L NM_001012967 human genbank 54_36p -1 validated missense c.2686 p.V896F 1.000 HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_DEAD HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_DEAD,HMMSmart_SM00490,HMMPfam_Helicase_C - no_errors CEP350 9857 genome.wustl.edu 36 1 178328735 178328735 + Missense_Mutation SNP A A T novel unknown TCGA-24-1843-01A-01W-0639-09 TCGA-24-1843-10A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22cd9936-9f48-447f-99b3-619f703e15c7 ed14c55e-68c3-4245-ab35-6401a92781ef 1 178328735 178328735 A T SNP CEP350 NM_014810 human genbank 54_36p +1 reviewed missense c.6869 p.Q2290L 0.434 NULL superfamily_Cap-Gly domain,HMMPfam_CAP_GLY,PatternScan_CAP_GLY_1 - no_errors TTN 7273 genome.wustl.edu 36 2 179320190 179320190 + Missense_Mutation SNP C C G novel unknown TCGA-24-1843-01A-01W-0639-09 TCGA-24-1843-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22cd9936-9f48-447f-99b3-619f703e15c7 ed14c55e-68c3-4245-ab35-6401a92781ef 2 179320190 179320190 C G SNP TTN NM_133379 human genbank 54_36p -1 reviewed missense c.15182 p.R5061T 1.000 NULL superfamily_SSF48726,HMMPfam_I-set,HMMSmart_IGc2,HMMSmart_IG,HMMPfam_Titin_Z,HMMPfam_ig,PatternScan_IG_MHC,PatternScan_THIOL_PROTEASE_HIS - no_errors HECW2 57520 genome.wustl.edu 36 2 196790011 196790011 + Missense_Mutation SNP C C G novel unknown TCGA-24-1843-01A-01W-0639-09 TCGA-24-1843-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22cd9936-9f48-447f-99b3-619f703e15c7 ed14c55e-68c3-4245-ab35-6401a92781ef 2 196790011 196790011 C G SNP HECW2 NM_020760 human genbank 54_36p -1 provisional missense c.4460 p.R1487T 1.000 superfamily_Hect E3 ligase catalytic domain,HMMSmart_SM00119,HMMPfam_HECT HMMSmart_SM00239,HMMPfam_C2,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),superfamily_WW domain,HMMSmart_SM00456,HMMPfam_WW,PatternScan_WW_DOMAIN_1,superfamily_Hect E3 ligase catalytic domain,HMMSmart_SM00119,HMMPfam_HECT - no_errors TFRC 7037 genome.wustl.edu 36 3 197263426 197263426 + Silent SNP G G A novel unknown TCGA-24-1843-01A-01W-0639-09 TCGA-24-1843-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22cd9936-9f48-447f-99b3-619f703e15c7 ed14c55e-68c3-4245-ab35-6401a92781ef 3 197263426 197263426 G A SNP TFRC NM_003234 human genbank 54_36p -1 validated silent c.2067 p.Y689 0.999 superfamily_Transferrin receptor ectodomain C-terminal domain,HMMPfam_TFR_dimer superfamily_Zn-dependent exopeptidases,superfamily_Transferrin receptor ectodomain apical domain,HMMPfam_PA,superfamily_Transferrin receptor ectodomain C-terminal domain,HMMPfam_TFR_dimer - no_errors RABIF 5877 genome.wustl.edu 36 1 201116906 201116906 + Silent SNP G G A novel unknown TCGA-24-1843-01A-01W-0639-09 TCGA-24-1843-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22cd9936-9f48-447f-99b3-619f703e15c7 ed14c55e-68c3-4245-ab35-6401a92781ef 1 201116906 201116906 G A SNP RABIF NM_002871 human genbank 54_36p -1 provisional silent c.195 p.L65 0.877 superfamily_Mss4-like,HMMPfam_Mss4 superfamily_Mss4-like,HMMPfam_Mss4 - no_errors DTL 51514 genome.wustl.edu 36 1 210340991 210340991 + Missense_Mutation SNP G G C novel unknown TCGA-24-1843-01A-01W-0639-09 TCGA-24-1843-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22cd9936-9f48-447f-99b3-619f703e15c7 ed14c55e-68c3-4245-ab35-6401a92781ef 1 210340991 210340991 G C SNP DTL NM_016448 human genbank 54_36p +1 validated missense c.2036 p.S679T 0.043 NULL HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40,PatternScan_WD_REPEATS_1 - no_errors USH2A 7399 genome.wustl.edu 36 1 213981414 213981414 + Silent SNP C C A novel unknown TCGA-24-1843-01A-01W-0639-09 TCGA-24-1843-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22cd9936-9f48-447f-99b3-619f703e15c7 ed14c55e-68c3-4245-ab35-6401a92781ef 1 213981414 213981414 C A SNP USH2A NM_206933 human genbank 54_36p -1 reviewed silent c.11637 p.G3879 0.044 superfamily_Fibronectin type III,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 - no_errors COL6A3 1293 genome.wustl.edu 36 2 237940390 237940390 + Missense_Mutation SNP G G A novel unknown TCGA-24-1843-01A-01W-0639-09 TCGA-24-1843-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22cd9936-9f48-447f-99b3-619f703e15c7 ed14c55e-68c3-4245-ab35-6401a92781ef 2 237940390 237940390 G A SNP COL6A3 NM_004369 human genbank 54_36p -1 reviewed missense c.5179 p.R1727W 0.125 superfamily_vWA-like,HMMSmart_SM00327,HMMPfam_VWA HMMSmart_SM00327,superfamily_vWA-like,HMMPfam_VWA,HMMPfam_Collagen,superfamily_Fibronectin type III,superfamily_BPTI-like,HMMSmart_SM00131,HMMPfam_Kunitz_BPTI,PatternScan_BPTI_KUNITZ_1 - no_errors OR2G6 391211 genome.wustl.edu 36 1 246751628 246751628 + Missense_Mutation SNP C C A novel unknown TCGA-24-1843-01A-01W-0639-09 TCGA-24-1843-10A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22cd9936-9f48-447f-99b3-619f703e15c7 ed14c55e-68c3-4245-ab35-6401a92781ef 1 246751628 246751628 C A SNP OR2G6 NM_001013355 human genbank 54_36p +1 validated missense c.58 p.Q20K 0.007 superfamily_Family A G protein-coupled receptor-like superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors C12orf59 120939 genome.wustl.edu 36 12 10223482 10223482 + Frame_Shift_Del DEL G G - novel unknown TCGA-24-1843-01A-01W-0639-09 TCGA-24-1843-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22cd9936-9f48-447f-99b3-619f703e15c7 ed14c55e-68c3-4245-ab35-6401a92781ef 12 10223482 10223482 G - DEL C12orf59 NM_153022 human genbank 54_36p +1 validated frame_shift_del c.26 p.C9fs 0.001 NULL NULL (deletion:cds_exon[10223457,10223494]) no_errors KRTAP4-8 0 genome.wustl.edu 36 17 36494308 36494322 + In_Frame_Del DEL CTGCTGCCGCCCCAG CTGCTGCCGCCCCAG - novel unknown TCGA-24-1843-01A-01W-0639-09 TCGA-24-1843-10A-01W-0639-09 CTGCTGCCGCCCCAG CTGCTGCCGCCCCAG Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22cd9936-9f48-447f-99b3-619f703e15c7 ed14c55e-68c3-4245-ab35-6401a92781ef 17 36494308 36494322 CTGCTGCCGCCCCAG - DEL KRTAP4-8 ENST00000391417 human ensembl 54_36p +1 known in_frame_del c.324_338 p.PSCCR112in_frame_del 0.808:0.872:0.863:0.838:0.614:0.280:0.041:0.000:0.000:0.000:0.003:0.010:0.495:0.494:0.565 HMMPfam_Keratin_B2 HMMPfam_Keratin_B2 (deletion:cds_exon[36493985,36494452]) no_errors JARID1C 8242 genome.wustl.edu 36 X 53239121 53239121 + Frame_Shift_Del DEL G G - novel unknown TCGA-24-1843-01A-01W-0639-09 TCGA-24-1843-10A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 22cd9936-9f48-447f-99b3-619f703e15c7 ed14c55e-68c3-4245-ab35-6401a92781ef X 53239121 53239121 G - DEL JARID1C NM_004187 human genbank 54_36p -1 reviewed frame_shift_del c.4436 p.P1479fs 0.998 NULL HMMSmart_SM00545,HMMPfam_JmjN,superfamily_ARID-like,HMMPfam_ARID,HMMSmart_SM00501,superfamily_FYVE/PHD zinc finger,HMMSmart_SM00249,HMMPfam_PHD,PatternScan_ZF_PHD_1,HMMSmart_SM00558,HMMPfam_JmjC,HMMPfam_zf-C5HC2,HMMPfam_PLU-1 (deletion:cds_exon[53238874,53239239]) no_errors