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 SNRPB 6628 genome.wustl.edu 36 20 2396390 2396390 + Silent SNP G G A novel unknown TCGA-23-1114-01B-01W-0633-09 TCGA-23-1114-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0114ee8f-86b5-4353-b16b-45899cf9bfc5 6a619513-c467-4c62-96bc-cefa5de3c3a2 20 2396390 2396390 G A SNP SNRPB NM_198216 human genbank 54_36p -1 reviewed silent c.18 p.S6 1.000 superfamily_Sm-like ribonucleoproteins superfamily_Sm-like ribonucleoproteins,HMMPfam_LSM,HMMSmart_SM00651 - no_errors TRAP1 10131 genome.wustl.edu 36 16 3653465 3653465 + Missense_Mutation SNP C C T novel unknown TCGA-23-1114-01B-01W-0633-09 TCGA-23-1114-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0114ee8f-86b5-4353-b16b-45899cf9bfc5 6a619513-c467-4c62-96bc-cefa5de3c3a2 16 3653465 3653465 C T SNP TRAP1 NM_016292 human genbank 54_36p -1 validated missense c.1669 p.D557N 1.000 HMMPfam_HSP90 PatternScan_HSP90,superfamily_ATP_bd_ATPase,HMMPfam_HATPase_c,HMMSmart_HATPase_c,HMMPfam_HSP90,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_SSF110942 - no_errors ADCY9 115 genome.wustl.edu 36 16 3955999 3955999 + Silent SNP G G A novel unknown TCGA-23-1114-01B-01W-0633-09 TCGA-23-1114-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0114ee8f-86b5-4353-b16b-45899cf9bfc5 6a619513-c467-4c62-96bc-cefa5de3c3a2 16 3955999 3955999 G A SNP ADCY9 NM_001116 human genbank 54_36p -1 reviewed silent c.3840 p.N1280 1.000 NULL HMMSmart_SM00044,superfamily_Adenylyl and guanylyl cyclase catalytic domain,HMMPfam_Guanylate_cyc,PatternScan_GUANYLATE_CYCLASE_1 - no_errors PPAPDC2 403313 genome.wustl.edu 36 9 4652652 4652652 + Missense_Mutation SNP G T T novel unknown TCGA-23-1114-01B-01W-0633-09 TCGA-23-1114-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0114ee8f-86b5-4353-b16b-45899cf9bfc5 6a619513-c467-4c62-96bc-cefa5de3c3a2 9 4652652 4652652 G T SNP PPAPDC2 NM_203453 human genbank 54_36p +1 validated missense c.277 p.D93Y 0.999 superfamily_AcPase_VanPerase superfamily_AcPase_VanPerase,HMMSmart_acidPPc,HMMPfam_PAP2 - no_errors OR52R1 119695 genome.wustl.edu 36 11 4781456 4781456 + Missense_Mutation SNP C C T novel unknown TCGA-23-1114-01B-01W-0633-09 TCGA-23-1114-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0114ee8f-86b5-4353-b16b-45899cf9bfc5 6a619513-c467-4c62-96bc-cefa5de3c3a2 11 4781456 4781456 C T SNP OR52R1 NM_001005177 human genbank 54_36p -1 validated missense c.968 p.R323H 0.999 superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1 superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1 - no_errors PEX5 5830 genome.wustl.edu 36 12 7252413 7252413 + Silent SNP C C T novel unknown TCGA-23-1114-01B-01W-0633-09 TCGA-23-1114-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0114ee8f-86b5-4353-b16b-45899cf9bfc5 6a619513-c467-4c62-96bc-cefa5de3c3a2 12 7252413 7252413 C T SNP PEX5 NM_000319 human genbank 54_36p +1 reviewed silent c.1251 p.T417 0.996 superfamily_SSF48452 superfamily_SSF48452,HMMSmart_TPR,HMMPfam_TPR_1 - no_errors TP53 7157 genome.wustl.edu 36 17 7517742 7517742 + Splice_Site SNP A C C novel unknown TCGA-23-1114-01B-01W-0633-09 TCGA-23-1114-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0114ee8f-86b5-4353-b16b-45899cf9bfc5 6a619513-c467-4c62-96bc-cefa5de3c3a2 17 7517742 7517742 A C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed splice_site c.919+2 e7+2 1.000 - - - no_errors ADCY2 108 genome.wustl.edu 36 5 7748938 7748938 + Missense_Mutation SNP C C G novel unknown TCGA-23-1114-01B-01W-0633-09 TCGA-23-1114-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0114ee8f-86b5-4353-b16b-45899cf9bfc5 6a619513-c467-4c62-96bc-cefa5de3c3a2 5 7748938 7748938 C G SNP ADCY2 NM_020546 human genbank 54_36p +1 reviewed missense c.943 p.L315V 1.000 HMMSmart_CYCc,superfamily_A/G_cyclase,HMMPfam_Guanylate_cyc HMMSmart_CYCc,superfamily_A/G_cyclase,HMMPfam_Guanylate_cyc,PatternScan_GUANYLATE_CYCLASE_1,HMMPfam_DUF1053 - no_errors DPPA3 359787 genome.wustl.edu 36 12 7760918 7760918 + Missense_Mutation SNP A A G novel unknown TCGA-23-1114-01B-01W-0633-09 TCGA-23-1114-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0114ee8f-86b5-4353-b16b-45899cf9bfc5 6a619513-c467-4c62-96bc-cefa5de3c3a2 12 7760918 7760918 A G SNP DPPA3 NM_199286 human genbank 54_36p +1 reviewed missense c.458 p.D153G 0.002 NULL NULL - no_errors GATA3 2625 genome.wustl.edu 36 10 8155835 8155835 + Missense_Mutation SNP A A T novel unknown TCGA-23-1114-01B-01W-0633-09 TCGA-23-1114-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0114ee8f-86b5-4353-b16b-45899cf9bfc5 6a619513-c467-4c62-96bc-cefa5de3c3a2 10 8155835 8155835 A T SNP GATA3 NM_001002295 human genbank 54_36p +1 validated missense c.1178 p.N393I 1.000 NULL superfamily_Glucocorticoid receptor-like (DNA-binding domain),HMMSmart_SM00401,PatternScan_GATA_ZN_FINGER_1,HMMPfam_GATA - no_errors CTNNBIP1 56998 genome.wustl.edu 36 1 9833405 9833405 + Silent SNP C C T novel unknown TCGA-23-1114-01B-01W-0633-09 TCGA-23-1114-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0114ee8f-86b5-4353-b16b-45899cf9bfc5 6a619513-c467-4c62-96bc-cefa5de3c3a2 1 9833405 9833405 C T SNP CTNNBIP1 NM_001012329 human genbank 54_36p -1 reviewed silent c.204 p.V68 1.000 HMMPfam_ICAT,superfamily_beta-catenin-interacting protein ICAT HMMPfam_ICAT,superfamily_beta-catenin-interacting protein ICAT - no_errors MARCH6 10299 genome.wustl.edu 36 5 10468676 10468676 + Silent SNP T T G novel unknown TCGA-23-1114-01B-01W-0633-09 TCGA-23-1114-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0114ee8f-86b5-4353-b16b-45899cf9bfc5 6a619513-c467-4c62-96bc-cefa5de3c3a2 5 10468676 10468676 T G SNP MARCH6 NM_005885 human genbank 54_36p +1 provisional silent c.2043 p.G681 0.978 NULL superfamily_RING/U-box,HMMSmart_SM00744,HMMPfam_zf-C3HC4 - no_errors C1orf187 374946 genome.wustl.edu 36 1 11694610 11694610 + Splice_Site SNP G G T novel unknown TCGA-23-1114-01B-01W-0633-09 TCGA-23-1114-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0114ee8f-86b5-4353-b16b-45899cf9bfc5 6a619513-c467-4c62-96bc-cefa5de3c3a2 1 11694610 11694610 G T SNP C1orf187 NM_198545 human genbank 54_36p +1 validated splice_site c.757+1 e3+1 1.000 - - - no_errors MFN2 9927 genome.wustl.edu 36 1 11989701 11989701 + Missense_Mutation SNP G G T novel unknown TCGA-23-1114-01B-01W-0633-09 TCGA-23-1114-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0114ee8f-86b5-4353-b16b-45899cf9bfc5 6a619513-c467-4c62-96bc-cefa5de3c3a2 1 11989701 11989701 G T SNP MFN2 NM_014874 human genbank 54_36p +1 reviewed missense c.1877 p.W626L 1.000 HMMPfam_Fzo_mitofusin superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Dynamin_N,HMMPfam_Fzo_mitofusin - no_errors HIVEP1 3096 genome.wustl.edu 36 6 12228818 12228818 + Silent SNP T T C novel unknown TCGA-23-1114-01B-01W-0633-09 TCGA-23-1114-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0114ee8f-86b5-4353-b16b-45899cf9bfc5 6a619513-c467-4c62-96bc-cefa5de3c3a2 6 12228818 12228818 T C SNP HIVEP1 NM_002114 human genbank 54_36p +1 validated silent c.804 p.A268 0.000 NULL superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1 - no_errors EPS8 2059 genome.wustl.edu 36 12 15702281 15702281 + Missense_Mutation SNP A A T novel unknown TCGA-23-1114-01B-01W-0633-09 TCGA-23-1114-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0114ee8f-86b5-4353-b16b-45899cf9bfc5 6a619513-c467-4c62-96bc-cefa5de3c3a2 12 15702281 15702281 A T SNP EPS8 NM_004447 human genbank 54_36p -1 reviewed missense c.1100 p.M367K 1.000 NULL HMMSmart_PTB,superfamily_SSF50729,HMMPfam_PTB,superfamily_SH3,HMMPfam_SH3_1,HMMSmart_SH3 - no_errors OR10H1 26539 genome.wustl.edu 36 19 15779749 15779749 + Silent SNP C C A novel unknown TCGA-23-1114-01B-01W-0633-09 TCGA-23-1114-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0114ee8f-86b5-4353-b16b-45899cf9bfc5 6a619513-c467-4c62-96bc-cefa5de3c3a2 19 15779749 15779749 C A SNP OR10H1 NM_013940 human genbank 54_36p -1 validated silent c.99 p.L33 0.635 superfamily_SSF81321 PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1 - no_errors NPC1 4864 genome.wustl.edu 36 18 19375117 19375117 + Silent SNP G G A novel unknown TCGA-23-1114-01B-01W-0633-09 TCGA-23-1114-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0114ee8f-86b5-4353-b16b-45899cf9bfc5 6a619513-c467-4c62-96bc-cefa5de3c3a2 18 19375117 19375117 G A SNP NPC1 NM_000271 human genbank 54_36p -1 validated silent c.2427 p.S809 0.000 HMMPfam_Patched HMMPfam_Patched,superfamily_SSF82866 - no_errors OR4K14 122740 genome.wustl.edu 36 14 19552902 19552902 + Silent SNP T T C novel unknown TCGA-23-1114-01B-01W-0633-09 TCGA-23-1114-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0114ee8f-86b5-4353-b16b-45899cf9bfc5 6a619513-c467-4c62-96bc-cefa5de3c3a2 14 19552902 19552902 T C SNP OR4K14 NM_001004712 human genbank 54_36p -1 provisional silent c.291 p.G97 0.912 superfamily_SSF81321,HMMPfam_7tm_1 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors OR4M2 390538 genome.wustl.edu 36 15 19870783 19870783 + Missense_Mutation SNP C C T novel unknown TCGA-23-1114-01B-01W-0633-09 TCGA-23-1114-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0114ee8f-86b5-4353-b16b-45899cf9bfc5 6a619513-c467-4c62-96bc-cefa5de3c3a2 15 19870783 19870783 C T SNP OR4M2 NM_001004719 human genbank 54_36p +1 provisional missense c.844 p.P282S 0.167 superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1 superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1 - no_errors PLXDC2 84898 genome.wustl.edu 36 10 20574386 20574386 + Silent SNP G G C novel unknown TCGA-23-1114-01B-01W-0633-09 TCGA-23-1114-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0114ee8f-86b5-4353-b16b-45899cf9bfc5 6a619513-c467-4c62-96bc-cefa5de3c3a2 10 20574386 20574386 G C SNP PLXDC2 NM_032812 human genbank 54_36p +1 provisional silent c.1419 p.V473 1.000 NULL HMMPfam_PSI,HMMSmart_SM00423 - no_errors ADAM7 8756 genome.wustl.edu 36 8 24400701 24400701 + Missense_Mutation SNP G G A novel unknown TCGA-23-1114-01B-01W-0633-09 TCGA-23-1114-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0114ee8f-86b5-4353-b16b-45899cf9bfc5 6a619513-c467-4c62-96bc-cefa5de3c3a2 8 24400701 24400701 G A SNP ADAM7 NM_003817 human genbank 54_36p +1 validated missense c.1072 p.V358M 1.000 "superfamily_Metalloproteases (""zincins"") catalytic domain,HMMPfam_Reprolysin" "HMMPfam_Pep_M12B_propep,superfamily_Metalloproteases (""zincins"") catalytic domain,HMMPfam_Reprolysin,HMMPfam_Disintegrin,HMMSmart_SM00050,superfamily_Blood coagulation inhibitor (disintegrin),PatternScan_DISINTEGRIN_1,HMMSmart_SM00608,HMMPfam_ADAM_CR" - no_errors KCNA4 3739 genome.wustl.edu 36 11 29990389 29990389 + Missense_Mutation SNP C C T novel unknown TCGA-23-1114-01B-01W-0633-09 TCGA-23-1114-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0114ee8f-86b5-4353-b16b-45899cf9bfc5 6a619513-c467-4c62-96bc-cefa5de3c3a2 11 29990389 29990389 C T SNP KCNA4 NM_002233 human genbank 54_36p -1 reviewed missense c.413 p.G138E 0.688 NULL HMMPfam_K_channel_TID,superfamily_POZ domain,HMMSmart_SM00225,HMMPfam_K_tetra,superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans - no_errors CCDC129 223075 genome.wustl.edu 36 7 31560639 31560639 + Silent SNP G G A novel unknown TCGA-23-1114-01B-01W-0633-09 TCGA-23-1114-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0114ee8f-86b5-4353-b16b-45899cf9bfc5 6a619513-c467-4c62-96bc-cefa5de3c3a2 7 31560639 31560639 G A SNP CCDC129 NM_194300 human genbank 54_36p +1 validated silent c.189 p.Q63 1.000 NULL PatternScan_PA2_HIS - no_errors YARS2 51067 genome.wustl.edu 36 12 32799342 32799342 + Missense_Mutation SNP G G C novel unknown TCGA-23-1114-01B-01W-0633-09 TCGA-23-1114-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0114ee8f-86b5-4353-b16b-45899cf9bfc5 6a619513-c467-4c62-96bc-cefa5de3c3a2 12 32799342 32799342 G C SNP YARS2 NM_001040436 human genbank 54_36p -1 validated missense c.734 p.S245C 0.987 superfamily_SSF52374,HMMPfam_tRNA-synt_1b superfamily_SSF52374,HMMPfam_tRNA-synt_1b,PatternScan_AA_TRNA_LIGASE_I,superfamily_SSF55174 - no_errors RPS10 6204 genome.wustl.edu 36 6 34500977 34500977 + Splice_Site SNP C C A novel unknown TCGA-23-1114-01B-01W-0633-09 TCGA-23-1114-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0114ee8f-86b5-4353-b16b-45899cf9bfc5 6a619513-c467-4c62-96bc-cefa5de3c3a2 6 34500977 34500977 C A SNP RPS10 NM_001014 human genbank 54_36p -1 reviewed splice_site c.1-1 e1-1 1.000 - - - no_errors NUP155 9631 genome.wustl.edu 36 5 37338718 37338718 + Missense_Mutation SNP G G C novel unknown TCGA-23-1114-01B-01W-0633-09 TCGA-23-1114-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0114ee8f-86b5-4353-b16b-45899cf9bfc5 6a619513-c467-4c62-96bc-cefa5de3c3a2 5 37338718 37338718 G C SNP NUP155 NM_153485 human genbank 54_36p -1 reviewed missense c.3367 p.L1123V 1.000 HMMPfam_Nucleoporin HMMPfam_Nucleoporin - no_errors NAGLU 4669 genome.wustl.edu 36 17 37946717 37946717 + Missense_Mutation SNP G G A novel unknown TCGA-23-1114-01B-01W-0633-09 TCGA-23-1114-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0114ee8f-86b5-4353-b16b-45899cf9bfc5 6a619513-c467-4c62-96bc-cefa5de3c3a2 17 37946717 37946717 G A SNP NAGLU NM_000263 human genbank 54_36p +1 reviewed missense c.988 p.A330T 0.816 HMMPfam_NAGLU HMMPfam_NAGLU - no_errors CHST14 113189 genome.wustl.edu 36 15 38551395 38551395 + Missense_Mutation SNP C C G novel unknown TCGA-23-1114-01B-01W-0633-09 TCGA-23-1114-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0114ee8f-86b5-4353-b16b-45899cf9bfc5 6a619513-c467-4c62-96bc-cefa5de3c3a2 15 38551395 38551395 C G SNP CHST14 NM_130468 human genbank 54_36p +1 provisional missense c.691 p.R231G 1.000 HMMPfam_Sulfotransfer_2 HMMPfam_Sulfotransfer_2 - no_errors MAG 27307 genome.wustl.edu 36 19 40492791 40492791 + Missense_Mutation SNP T T C novel unknown TCGA-23-1114-01B-01W-0633-09 TCGA-23-1114-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0114ee8f-86b5-4353-b16b-45899cf9bfc5 6a619513-c467-4c62-96bc-cefa5de3c3a2 19 40492791 40492791 T C SNP MAG NM_002361 human genbank 54_36p +1 reviewed missense c.1406 p.V469A 0.888 superfamily_SSF48726 HMMPfam_V-set,superfamily_SSF48726,HMMSmart_IG,HMMPfam_C2-set_2,HMMPfam_I-set,HMMSmart_IGc2,HMMPfam_ig - no_errors EPB42 2038 genome.wustl.edu 36 15 41294790 41294790 + Silent SNP G G T novel unknown TCGA-23-1114-01B-01W-0633-09 TCGA-23-1114-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0114ee8f-86b5-4353-b16b-45899cf9bfc5 6a619513-c467-4c62-96bc-cefa5de3c3a2 15 41294790 41294790 G T SNP EPB42 NM_000119 human genbank 54_36p -1 reviewed silent c.315 p.T105 1.000 superfamily_Ig_E-set,HMMPfam_Transglut_N superfamily_Ig_E-set,HMMPfam_Transglut_N,superfamily_SSF54001,HMMSmart_TGc,PatternScan_TRANSGLUTAMINASES,HMMPfam_Transglut_core,superfamily_Transglut_C,HMMPfam_Transglut_C - no_errors JPH2 57158 genome.wustl.edu 36 20 42178001 42178001 + Silent SNP G C C novel unknown TCGA-23-1114-01B-01W-0633-09 TCGA-23-1114-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0114ee8f-86b5-4353-b16b-45899cf9bfc5 6a619513-c467-4c62-96bc-cefa5de3c3a2 20 42178001 42178001 G C SNP JPH2 NM_020433 human genbank 54_36p -1 reviewed silent c.1728 p.P576 0.028 NULL superfamily_Histone H3 K4-specific methyltransferase SET7/9 N-terminal domain,HMMSmart_SM00698,HMMPfam_MORN,PatternScan_SUGAR_TRANSPORT_1,PatternScan_XYLOSE_ISOMERASE_1 - no_errors KRT18P26 729634 genome.wustl.edu 36 2 44366600 44366600 + RNA SNP C C T novel unknown TCGA-23-1114-01B-01W-0633-09 TCGA-23-1114-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0114ee8f-86b5-4353-b16b-45899cf9bfc5 6a619513-c467-4c62-96bc-cefa5de3c3a2 2 44366600 44366600 C T SNP KRT18P26 XR_039730 human genbank 54_36p -1 model rna NULL NULL 0.000 - - - pseudogene NPC1L1 29881 genome.wustl.edu 36 7 44545031 44545031 + Missense_Mutation SNP T T C novel unknown TCGA-23-1114-01B-01W-0633-09 TCGA-23-1114-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0114ee8f-86b5-4353-b16b-45899cf9bfc5 6a619513-c467-4c62-96bc-cefa5de3c3a2 7 44545031 44545031 T C SNP NPC1L1 NM_013389 human genbank 54_36p -1 validated missense c.1490 p.N497S 1.000 HMMPfam_Patched HMMPfam_Patched,superfamily_SSF82866 - no_errors WDR13 64743 genome.wustl.edu 36 X 48342063 48342063 + Missense_Mutation SNP G G A novel unknown TCGA-23-1114-01B-01W-0633-09 TCGA-23-1114-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0114ee8f-86b5-4353-b16b-45899cf9bfc5 6a619513-c467-4c62-96bc-cefa5de3c3a2 X 48342063 48342063 G A SNP WDR13 NM_017883 human genbank 54_36p +1 reviewed missense c.56 p.R19H 1.000 NULL HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40 - no_errors uc002rwn.1 0 genome.wustl.edu 36 2 48610609 48610609 + Silent SNP A G G novel unknown TCGA-23-1114-01B-01W-0633-09 TCGA-23-1114-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0114ee8f-86b5-4353-b16b-45899cf9bfc5 6a619513-c467-4c62-96bc-cefa5de3c3a2 2 48610609 48610609 A G SNP uc002rwn.1 ENST00000378305 human ensembl 54_36p +1 known silent c.108 p.P36 0.084 NULL NULL - no_errors WDR6 11180 genome.wustl.edu 36 3 49027725 49027725 + Nonstop_Mutation SNP A A C novel unknown TCGA-23-1114-01B-01W-0633-09 TCGA-23-1114-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0114ee8f-86b5-4353-b16b-45899cf9bfc5 6a619513-c467-4c62-96bc-cefa5de3c3a2 3 49027725 49027725 A C SNP WDR6 NM_018031 human genbank 54_36p +1 reviewed nonstop c.3366 p.*1122C 0.300 NULL superfamily_WD40_like,HMMSmart_WD40,HMMPfam_WD40,PatternScan_WD_REPEATS_1 - no_errors ZNF224 7767 genome.wustl.edu 36 19 49302961 49302961 + Missense_Mutation SNP A A C novel unknown TCGA-23-1114-01B-01W-0633-09 TCGA-23-1114-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0114ee8f-86b5-4353-b16b-45899cf9bfc5 6a619513-c467-4c62-96bc-cefa5de3c3a2 19 49302961 49302961 A C SNP ZNF224 NM_013398 human genbank 54_36p +1 provisional missense c.808 p.I270L 0.063 superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1 superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1 - no_errors FBXO46 23403 genome.wustl.edu 36 19 50908020 50908020 + Missense_Mutation SNP G G C novel unknown TCGA-23-1114-01B-01W-0633-09 TCGA-23-1114-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0114ee8f-86b5-4353-b16b-45899cf9bfc5 6a619513-c467-4c62-96bc-cefa5de3c3a2 19 50908020 50908020 G C SNP FBXO46 NM_001080469 human genbank 54_36p -1 provisional missense c.574 p.R192G 0.000 NULL superfamily_F-box domain,HMMPfam_F-box,HMMSmart_SM00256 - no_errors TRPM4 54795 genome.wustl.edu 36 19 54366797 54366797 + Missense_Mutation SNP C C T novel unknown TCGA-23-1114-01B-01W-0633-09 TCGA-23-1114-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0114ee8f-86b5-4353-b16b-45899cf9bfc5 6a619513-c467-4c62-96bc-cefa5de3c3a2 19 54366797 54366797 C T SNP TRPM4 NM_017636 human genbank 54_36p +1 provisional missense c.1009 p.R337C 0.284 NULL HMMPfam_Ion_trans - no_errors SLC17A7 57030 genome.wustl.edu 36 19 54626211 54626211 + Missense_Mutation SNP C C A novel unknown TCGA-23-1114-01B-01W-0633-09 TCGA-23-1114-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0114ee8f-86b5-4353-b16b-45899cf9bfc5 6a619513-c467-4c62-96bc-cefa5de3c3a2 19 54626211 54626211 C A SNP SLC17A7 NM_020309 human genbank 54_36p -1 reviewed missense c.1262 p.G421V 1.000 superfamily_MFS_gen_substrate_transporter,HMMPfam_MFS_1 superfamily_MFS_gen_substrate_transporter,HMMPfam_MFS_1 - no_errors BCAS3 54828 genome.wustl.edu 36 17 56447917 56447917 + Missense_Mutation SNP T T C novel unknown TCGA-23-1114-01B-01W-0633-09 TCGA-23-1114-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0114ee8f-86b5-4353-b16b-45899cf9bfc5 6a619513-c467-4c62-96bc-cefa5de3c3a2 17 56447917 56447917 T C SNP BCAS3 NM_001099432 human genbank 54_36p +1 validated missense c.1510 p.Y504H 1.000 NULL superfamily_WD40 repeat-like - no_errors FTSJ3 117246 genome.wustl.edu 36 17 59257971 59257971 + Silent SNP G C C novel unknown TCGA-23-1114-01B-01W-0633-09 TCGA-23-1114-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0114ee8f-86b5-4353-b16b-45899cf9bfc5 6a619513-c467-4c62-96bc-cefa5de3c3a2 17 59257971 59257971 G C SNP FTSJ3 NM_017647 human genbank 54_36p -1 reviewed silent c.24 p.G8 1.000 NULL superfamily_S-adenosyl-L-methionine-dependent methyltransferases,HMMPfam_FtsJ,HMMPfam_Spb1_C - no_errors CDH4 1002 genome.wustl.edu 36 20 59932901 59932901 + Silent SNP C C T novel unknown TCGA-23-1114-01B-01W-0633-09 TCGA-23-1114-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0114ee8f-86b5-4353-b16b-45899cf9bfc5 6a619513-c467-4c62-96bc-cefa5de3c3a2 20 59932901 59932901 C T SNP CDH4 NM_001794 human genbank 54_36p +1 reviewed silent c.1743 p.Y581 0.998 superfamily_Cadherin,HMMPfam_Cadherin,HMMSmart_CA superfamily_Cadherin,HMMPfam_Cadherin_pro,HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,HMMPfam_Cadherin_C - no_errors POLA2 23649 genome.wustl.edu 36 11 64792738 64792738 + Nonsense_Mutation SNP G G T novel unknown TCGA-23-1114-01B-01W-0633-09 TCGA-23-1114-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0114ee8f-86b5-4353-b16b-45899cf9bfc5 6a619513-c467-4c62-96bc-cefa5de3c3a2 11 64792738 64792738 G T SNP POLA2 NM_002689 human genbank 54_36p +1 provisional nonsense c.316 p.E106* 1.000 HMMPfam_Pol_alpha_B_N HMMPfam_Pol_alpha_B_N,HMMPfam_DNA_pol_E_B - no_errors ACTN3 89 genome.wustl.edu 36 11 66087235 66087235 + Missense_Mutation SNP C C A novel unknown TCGA-23-1114-01B-01W-0633-09 TCGA-23-1114-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0114ee8f-86b5-4353-b16b-45899cf9bfc5 6a619513-c467-4c62-96bc-cefa5de3c3a2 11 66087235 66087235 C A SNP ACTN3 NM_001104 human genbank 54_36p +1 reviewed missense c.2701 p.L901I 1.000 NULL superfamily_Calponin-homology domain CH-domain,HMMPfam_CH,PatternScan_ACTININ_1,HMMSmart_SM00033,PatternScan_ACTININ_2,superfamily_Spectrin repeat,HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_EF-hand,HMMSmart_SM00054,HMMPfam_efhand_Ca_insen,PatternScan_DEHYDRATASE_SER_THR - pseudogene STARD8 9754 genome.wustl.edu 36 X 67858172 67858172 + Missense_Mutation SNP A A T novel unknown TCGA-23-1114-01B-01W-0633-09 TCGA-23-1114-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0114ee8f-86b5-4353-b16b-45899cf9bfc5 6a619513-c467-4c62-96bc-cefa5de3c3a2 X 67858172 67858172 A T SNP STARD8 NM_014725 human genbank 54_36p +1 validated missense c.2078 p.E693V 1.000 superfamily_GTPase activation domain GAP,HMMSmart_SM00324,HMMPfam_RhoGAP superfamily_GTPase activation domain GAP,HMMSmart_SM00324,HMMPfam_RhoGAP,superfamily_Bet v1-like,HMMPfam_START,HMMSmart_SM00234 - no_errors EFNB1 1947 genome.wustl.edu 36 X 67976292 67976292 + Missense_Mutation SNP G G A novel unknown TCGA-23-1114-01B-01W-0633-09 TCGA-23-1114-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0114ee8f-86b5-4353-b16b-45899cf9bfc5 6a619513-c467-4c62-96bc-cefa5de3c3a2 X 67976292 67976292 G A SNP EFNB1 NM_004429 human genbank 54_36p +1 reviewed missense c.467 p.R156H 0.991 HMMPfam_Ephrin,superfamily_Cupredoxin HMMPfam_Ephrin,superfamily_Cupredoxin,PatternScan_EPHRIN - no_errors PHKA1 5255 genome.wustl.edu 36 X 71763559 71763559 + Missense_Mutation SNP A A T novel unknown TCGA-23-1114-01B-01W-0633-09 TCGA-23-1114-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0114ee8f-86b5-4353-b16b-45899cf9bfc5 6a619513-c467-4c62-96bc-cefa5de3c3a2 X 71763559 71763559 A T SNP PHKA1 NM_002637 human genbank 54_36p -1 validated missense c.1780 p.F594I 1.000 HMMPfam_PHK_AB HMMPfam_PHK_AB,superfamily_Six-hairpin glycosidases - no_errors ALMS1 7840 genome.wustl.edu 36 2 73529695 73529695 + Missense_Mutation SNP G G A novel unknown TCGA-23-1114-01B-01W-0633-09 TCGA-23-1114-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0114ee8f-86b5-4353-b16b-45899cf9bfc5 6a619513-c467-4c62-96bc-cefa5de3c3a2 2 73529695 73529695 G A SNP ALMS1 NM_015120 human genbank 54_36p +1 reviewed missense c.2530 p.D844N 0.060 NULL NULL - no_errors MYOZ1 58529 genome.wustl.edu 36 10 75064314 75064314 + Missense_Mutation SNP C C A novel unknown TCGA-23-1114-01B-01W-0633-09 TCGA-23-1114-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0114ee8f-86b5-4353-b16b-45899cf9bfc5 6a619513-c467-4c62-96bc-cefa5de3c3a2 10 75064314 75064314 C A SNP MYOZ1 NM_021245 human genbank 54_36p -1 provisional missense c.436 p.G146C 0.997 HMMPfam_Calsarcin HMMPfam_Calsarcin - no_errors VCL 7414 genome.wustl.edu 36 10 75533626 75533626 + Missense_Mutation SNP C C G novel unknown TCGA-23-1114-01B-01W-0633-09 TCGA-23-1114-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0114ee8f-86b5-4353-b16b-45899cf9bfc5 6a619513-c467-4c62-96bc-cefa5de3c3a2 10 75533626 75533626 C G SNP VCL NM_014000 human genbank 54_36p +1 reviewed missense c.2065 p.Q689E 1.000 HMMPfam_Vinculin,superfamily_alpha-catenin/vinculin superfamily_alpha-catenin/vinculin,HMMPfam_Vinculin,PatternScan_VINCULIN_1,PatternScan_VINCULIN_2 - no_errors BAHCC1 57597 genome.wustl.edu 36 17 77040472 77040472 + Silent SNP C T T novel unknown TCGA-23-1114-01B-01W-0633-09 TCGA-23-1114-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0114ee8f-86b5-4353-b16b-45899cf9bfc5 6a619513-c467-4c62-96bc-cefa5de3c3a2 17 77040472 77040472 C T SNP BAHCC1 NM_001080519 human genbank 54_36p +1 inferred silent c.5853 p.F1951 0.994 NULL HMMPfam_BAH,HMMSmart_SM00439 - no_errors RSBN1L 222194 genome.wustl.edu 36 7 77246375 77246375 + Missense_Mutation SNP C C T novel unknown TCGA-23-1114-01B-01W-0633-09 TCGA-23-1114-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0114ee8f-86b5-4353-b16b-45899cf9bfc5 6a619513-c467-4c62-96bc-cefa5de3c3a2 7 77246375 77246375 C T SNP RSBN1L NM_198467 human genbank 54_36p +1 validated missense c.2495 p.S832L 0.998 NULL NULL - no_errors COPS4 51138 genome.wustl.edu 36 4 84190155 84190155 + Missense_Mutation SNP G G A novel unknown TCGA-23-1114-01B-01W-0633-09 TCGA-23-1114-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0114ee8f-86b5-4353-b16b-45899cf9bfc5 6a619513-c467-4c62-96bc-cefa5de3c3a2 4 84190155 84190155 G A SNP COPS4 NM_016129 human genbank 54_36p +1 reviewed missense c.404 p.G135E 1.000 NULL "HMMPfam_PCI,superfamily_""Winged helix"" DNA-binding domain,HMMSmart_SM00088" - no_errors PTPN13 5783 genome.wustl.edu 36 4 87914563 87914563 + Missense_Mutation SNP T T A novel unknown TCGA-23-1114-01B-01W-0633-09 TCGA-23-1114-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0114ee8f-86b5-4353-b16b-45899cf9bfc5 6a619513-c467-4c62-96bc-cefa5de3c3a2 4 87914563 87914563 T A SNP PTPN13 NM_080685 human genbank 54_36p +1 reviewed missense c.5378 p.L1793H 1.000 superfamily_PDZ,HMMPfam_PDZ HMMSmart_KIND,superfamily_SSF101690,HMMSmart_B41,superfamily_SSF54236,HMMPfam_FERM_N,superfamily_FERM_3-hlx,HMMPfam_FERM_M,superfamily_SSF50729,HMMPfam_FERM_C,superfamily_PDZ,HMMPfam_PDZ,HMMSmart_PDZ,superfamily_SSF52799,HMMSmart_PTPc,HMMPfam_Y_phosphatase - no_errors MGC26647 219557 genome.wustl.edu 36 7 88262178 88262178 + Silent SNP G G A novel unknown TCGA-23-1114-01B-01W-0633-09 TCGA-23-1114-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0114ee8f-86b5-4353-b16b-45899cf9bfc5 6a619513-c467-4c62-96bc-cefa5de3c3a2 7 88262178 88262178 G A SNP MGC26647 NM_152706 human genbank 54_36p -1 predicted silent c.15 p.V5 0.003 NULL NULL - no_errors ENSG00000211624 0 genome.wustl.edu 36 2 89681530 89681530 + Missense_Mutation SNP T T C novel unknown TCGA-23-1114-01B-01W-0633-09 TCGA-23-1114-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0114ee8f-86b5-4353-b16b-45899cf9bfc5 6a619513-c467-4c62-96bc-cefa5de3c3a2 2 89681530 89681530 T C SNP ENSG00000211624 ENST00000390269 human ensembl 54_36p +1 known missense c.146 p.L49P 0.145 HMMPfam_V-set,superfamily_SSF48726,HMMSmart_IGv HMMPfam_V-set,superfamily_SSF48726,HMMSmart_IGv - no_stop_codon:bad_bp_length_for_coding_region ENSG00000211624 0 genome.wustl.edu 36 2 89681685 89681685 + Missense_Mutation SNP A A T novel unknown TCGA-23-1114-01B-01W-0633-09 TCGA-23-1114-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0114ee8f-86b5-4353-b16b-45899cf9bfc5 6a619513-c467-4c62-96bc-cefa5de3c3a2 2 89681685 89681685 A T SNP ENSG00000211624 ENST00000390269 human ensembl 54_36p +1 known missense c.301 p.S101C 1.000 HMMSmart_IGv,HMMPfam_V-set,superfamily_SSF48726 HMMSmart_IGv,HMMPfam_V-set,superfamily_SSF48726 - no_stop_codon:bad_bp_length_for_coding_region KCNK13 56659 genome.wustl.edu 36 14 89720341 89720341 + Silent SNP C C T novel unknown TCGA-23-1114-01B-01W-0633-09 TCGA-23-1114-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0114ee8f-86b5-4353-b16b-45899cf9bfc5 6a619513-c467-4c62-96bc-cefa5de3c3a2 14 89720341 89720341 C T SNP KCNK13 NM_022054 human genbank 54_36p +1 reviewed silent c.468 p.I156 0.971 superfamily_Voltage-gated potassium channels superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans_2 - no_errors FAT3 120114 genome.wustl.edu 36 11 92173495 92173495 + Silent SNP A A G novel unknown TCGA-23-1114-01B-01W-0633-09 TCGA-23-1114-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0114ee8f-86b5-4353-b16b-45899cf9bfc5 6a619513-c467-4c62-96bc-cefa5de3c3a2 11 92173495 92173495 A G SNP FAT3 NM_001008781 human genbank 54_36p +1 validated silent c.7668 p.E2556 1.000 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 - no_errors CNN3 1266 genome.wustl.edu 36 1 95135898 95135898 + Silent SNP G G A novel unknown TCGA-23-1114-01B-01W-0633-09 TCGA-23-1114-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0114ee8f-86b5-4353-b16b-45899cf9bfc5 6a619513-c467-4c62-96bc-cefa5de3c3a2 1 95135898 95135898 G A SNP CNN3 NM_001839 human genbank 54_36p -1 validated silent c.978 p.G326 1.000 NULL superfamily_Calponin-homology domain CH-domain,HMMPfam_CH,HMMSmart_SM00033,PatternScan_CALPONIN_1,HMMPfam_Calponin - no_errors C8orf47 203111 genome.wustl.edu 36 8 99170483 99170483 + Missense_Mutation SNP C C A novel unknown TCGA-23-1114-01B-01W-0633-09 TCGA-23-1114-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0114ee8f-86b5-4353-b16b-45899cf9bfc5 6a619513-c467-4c62-96bc-cefa5de3c3a2 8 99170483 99170483 C A SNP C8orf47 NM_173549 human genbank 54_36p +1 predicted missense c.62 p.T21N 0.965 NULL NULL - no_errors KIAA1529 57653 genome.wustl.edu 36 9 99173809 99173809 + Missense_Mutation SNP A A G novel unknown TCGA-23-1114-01B-01W-0633-09 TCGA-23-1114-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0114ee8f-86b5-4353-b16b-45899cf9bfc5 6a619513-c467-4c62-96bc-cefa5de3c3a2 9 99173809 99173809 A G SNP KIAA1529 NM_020893 human genbank 54_36p +1 predicted missense c.4567 p.R1523G 0.978 NULL NULL - no_errors POP1 10940 genome.wustl.edu 36 8 99230401 99230401 + Missense_Mutation SNP G G T novel unknown TCGA-23-1114-01B-01W-0633-09 TCGA-23-1114-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0114ee8f-86b5-4353-b16b-45899cf9bfc5 6a619513-c467-4c62-96bc-cefa5de3c3a2 8 99230401 99230401 G T SNP POP1 NM_015029 human genbank 54_36p +1 reviewed missense c.1893 p.W631C 1.000 HMMPfam_POPLD HMMPfam_POP1,HMMPfam_POPLD - no_errors C9orf125 84302 genome.wustl.edu 36 9 103278972 103278972 + Missense_Mutation SNP G G A novel unknown TCGA-23-1114-01B-01W-0633-09 TCGA-23-1114-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0114ee8f-86b5-4353-b16b-45899cf9bfc5 6a619513-c467-4c62-96bc-cefa5de3c3a2 9 103278972 103278972 G A SNP C9orf125 NM_032342 human genbank 54_36p -1 predicted missense c.224 p.A75V 0.896 NULL NULL - no_errors ENSG00000211969 0 genome.wustl.edu 36 14 106154357 106154357 + Missense_Mutation SNP A A G novel unknown TCGA-23-1114-01B-01W-0633-09 TCGA-23-1114-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0114ee8f-86b5-4353-b16b-45899cf9bfc5 6a619513-c467-4c62-96bc-cefa5de3c3a2 14 106154357 106154357 A G SNP ENSG00000211969 ENST00000390629 human ensembl 54_36p -1 known missense c.292 p.S98P 0.000 HMMPfam_V-set,superfamily_SSF48726,HMMSmart_IGv HMMPfam_V-set,superfamily_SSF48726,HMMSmart_IGv - no_stop_codon:bad_bp_length_for_coding_region GUCY1A2 2977 genome.wustl.edu 36 11 106316092 106316092 + Silent SNP T T C novel unknown TCGA-23-1114-01B-01W-0633-09 TCGA-23-1114-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0114ee8f-86b5-4353-b16b-45899cf9bfc5 6a619513-c467-4c62-96bc-cefa5de3c3a2 11 106316092 106316092 T C SNP GUCY1A2 NM_000855 human genbank 54_36p -1 validated silent c.510 p.Q170 1.000 HMMPfam_HNOB,superfamily_H-NOX domain HMMPfam_HNOB,superfamily_H-NOX domain,HMMPfam_HNOBA,HMMSmart_SM00044,superfamily_Adenylyl and guanylyl cyclase catalytic domain,HMMPfam_Guanylate_cyc,PatternScan_GUANYLATE_CYCLASE_1 - no_errors ARHGAP20 57569 genome.wustl.edu 36 11 109955366 109955366 + Missense_Mutation SNP G G T novel unknown TCGA-23-1114-01B-01W-0633-09 TCGA-23-1114-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0114ee8f-86b5-4353-b16b-45899cf9bfc5 6a619513-c467-4c62-96bc-cefa5de3c3a2 11 109955366 109955366 G T SNP ARHGAP20 NM_020809 human genbank 54_36p -1 validated missense c.3514 p.P1172T 0.911 NULL superfamily_PH domain-like,HMMSmart_SM00233,HMMPfam_RA,superfamily_GTPase activation domain GAP,HMMSmart_SM00324,HMMPfam_RhoGAP - no_errors SIDT1 54847 genome.wustl.edu 36 3 114803154 114803154 + Missense_Mutation SNP A A G novel unknown TCGA-23-1114-01B-01W-0633-09 TCGA-23-1114-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0114ee8f-86b5-4353-b16b-45899cf9bfc5 6a619513-c467-4c62-96bc-cefa5de3c3a2 3 114803154 114803154 A G SNP SIDT1 NM_017699 human genbank 54_36p +1 validated missense c.1075 p.I359V 1.000 NULL NULL - no_errors ARSJ 79642 genome.wustl.edu 36 4 115044247 115044247 + Missense_Mutation SNP G G C novel unknown TCGA-23-1114-01B-01W-0633-09 TCGA-23-1114-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0114ee8f-86b5-4353-b16b-45899cf9bfc5 6a619513-c467-4c62-96bc-cefa5de3c3a2 4 115044247 115044247 G C SNP ARSJ NM_024590 human genbank 54_36p -1 validated missense c.432 p.I144M 1.000 HMMPfam_Sulfatase,superfamily_Alkaline phosphatase-like HMMPfam_Sulfatase,superfamily_Alkaline phosphatase-like,PatternScan_SULFATASE_1,PatternScan_SULFATASE_2 - no_errors ENSG00000198230 0 genome.wustl.edu 36 11 117404815 117404815 + Missense_Mutation SNP G G A novel unknown TCGA-23-1114-01B-01W-0633-09 TCGA-23-1114-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0114ee8f-86b5-4353-b16b-45899cf9bfc5 6a619513-c467-4c62-96bc-cefa5de3c3a2 11 117404815 117404815 G A SNP ENSG00000198230 ENST00000356822 human ensembl 54_36p -1 known missense c.301 p.L101F 0.488 NULL NULL - no_errors MLL 4297 genome.wustl.edu 36 11 117847610 117847610 + Missense_Mutation SNP C C A novel unknown TCGA-23-1114-01B-01W-0633-09 TCGA-23-1114-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0114ee8f-86b5-4353-b16b-45899cf9bfc5 6a619513-c467-4c62-96bc-cefa5de3c3a2 11 117847610 117847610 C A SNP MLL NM_005933 human genbank 54_36p +1 validated missense c.526 p.R176S 1.000 PatternScan_HMGI_Y PatternScan_HMGI_Y,HMMPfam_AT_hook,HMMPfam_zf-CXXC,superfamily_FYVE/PHD zinc finger,HMMSmart_SM00249,HMMPfam_PHD,PatternScan_ZF_PHD_1,PatternScan_RECR,HMMSmart_SM00297,superfamily_Bromodomain,HMMPfam_FYRN,HMMSmart_SM00541,PatternScan_EF_HAND_1,HMMPfam_FYRC,HMMSmart_SM00542,superfamily_SET domain,HMMPfam_SET,HMMSmart_SM00317,HMMSmart_SM00508 - no_errors GFRA1 2674 genome.wustl.edu 36 10 117874791 117874791 + Missense_Mutation SNP G G C novel unknown TCGA-23-1114-01B-01W-0633-09 TCGA-23-1114-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0114ee8f-86b5-4353-b16b-45899cf9bfc5 6a619513-c467-4c62-96bc-cefa5de3c3a2 10 117874791 117874791 G C SNP GFRA1 NM_005264 human genbank 54_36p -1 reviewed missense c.701 p.S234C 1.000 NULL superfamily_GDNF receptor-like (Pfam 02351),HMMPfam_GDNF - no_errors GFRA1 2674 genome.wustl.edu 36 10 117875045 117875045 + Silent SNP G G C novel unknown TCGA-23-1114-01B-01W-0633-09 TCGA-23-1114-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0114ee8f-86b5-4353-b16b-45899cf9bfc5 6a619513-c467-4c62-96bc-cefa5de3c3a2 10 117875045 117875045 G C SNP GFRA1 NM_005264 human genbank 54_36p -1 reviewed silent c.447 p.P149 0.993 NULL HMMPfam_GDNF,superfamily_GDNF receptor-like (Pfam 02351) - no_errors KNTC1 9735 genome.wustl.edu 36 12 121580602 121580602 + Silent SNP C C T novel unknown TCGA-23-1114-01B-01W-0633-09 TCGA-23-1114-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0114ee8f-86b5-4353-b16b-45899cf9bfc5 6a619513-c467-4c62-96bc-cefa5de3c3a2 12 121580602 121580602 C T SNP KNTC1 NM_014708 human genbank 54_36p +1 reviewed silent c.39 p.T13 0.996 NULL HMMPfam_Rod_C,PatternScan_BZIP_BASIC - no_errors PRDM5 11107 genome.wustl.edu 36 4 121994094 121994094 + Silent SNP G G T novel unknown TCGA-23-1114-01B-01W-0633-09 TCGA-23-1114-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0114ee8f-86b5-4353-b16b-45899cf9bfc5 6a619513-c467-4c62-96bc-cefa5de3c3a2 4 121994094 121994094 G T SNP PRDM5 NM_018699 human genbank 54_36p -1 reviewed silent c.229 p.R77 1.000 HMMPfam_SET,HMMSmart_SM00317 HMMPfam_SET,HMMSmart_SM00317,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1 - no_errors OR1J1 347168 genome.wustl.edu 36 9 124279318 124279318 + Missense_Mutation SNP C C G novel unknown TCGA-23-1114-01B-01W-0633-09 TCGA-23-1114-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0114ee8f-86b5-4353-b16b-45899cf9bfc5 6a619513-c467-4c62-96bc-cefa5de3c3a2 9 124279318 124279318 C G SNP OR1J1 NM_001004451 human genbank 54_36p -1 provisional missense c.709 p.A237P 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 CUZD1 50624 genome.wustl.edu 36 10 124590773 124590773 + Missense_Mutation SNP C C T novel unknown TCGA-23-1114-01B-01W-0633-09 TCGA-23-1114-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0114ee8f-86b5-4353-b16b-45899cf9bfc5 6a619513-c467-4c62-96bc-cefa5de3c3a2 10 124590773 124590773 C T SNP CUZD1 NM_022034 human genbank 54_36p -1 provisional missense c.144 p.M48I 0.286 superfamily_Spermadhesin CUB domain,HMMSmart_SM00042 superfamily_Spermadhesin CUB domain,HMMSmart_SM00042,HMMPfam_CUB,HMMPfam_Zona_pellucida,HMMSmart_SM00241 - no_errors ROPN1 54763 genome.wustl.edu 36 3 125177008 125177008 + Missense_Mutation SNP C C G novel unknown TCGA-23-1114-01B-01W-0633-09 TCGA-23-1114-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0114ee8f-86b5-4353-b16b-45899cf9bfc5 6a619513-c467-4c62-96bc-cefa5de3c3a2 3 125177008 125177008 C G SNP ROPN1 NM_017578 human genbank 54_36p -1 provisional missense c.304 p.D102H 1.000 NULL superfamily_Dimerization-anchoring domain of cAMP-dependent type II PK regulatory subunit,HMMPfam_RIIa - no_errors RPUSD4 84881 genome.wustl.edu 36 11 125578560 125578560 + Missense_Mutation SNP T T A novel unknown TCGA-23-1114-01B-01W-0633-09 TCGA-23-1114-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0114ee8f-86b5-4353-b16b-45899cf9bfc5 6a619513-c467-4c62-96bc-cefa5de3c3a2 11 125578560 125578560 T A SNP RPUSD4 NM_032795 human genbank 54_36p -1 validated missense c.1097 p.N366I 0.000 superfamily_PsdUridine_synth_cat_dom superfamily_PsdUridine_synth_cat_dom,HMMPfam_PseudoU_synth_2,PatternScan_PSI_RLU - no_errors C9orf126 286205 genome.wustl.edu 36 9 126831796 126831796 + Missense_Mutation SNP C C T novel unknown TCGA-23-1114-01B-01W-0633-09 TCGA-23-1114-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0114ee8f-86b5-4353-b16b-45899cf9bfc5 6a619513-c467-4c62-96bc-cefa5de3c3a2 9 126831796 126831796 C T SNP C9orf126 NM_173690 human genbank 54_36p -1 validated missense c.343 p.G115R 1.000 NULL NULL - no_errors SMARCA1 6594 genome.wustl.edu 36 X 128430549 128430549 + Missense_Mutation SNP C C G novel unknown TCGA-23-1114-01B-01W-0633-09 TCGA-23-1114-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0114ee8f-86b5-4353-b16b-45899cf9bfc5 6a619513-c467-4c62-96bc-cefa5de3c3a2 X 128430549 128430549 C G SNP SMARCA1 NM_003069 human genbank 54_36p -1 reviewed missense c.2580 p.W860C 1.000 superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00717,superfamily_Homeodomain-like superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487,HMMPfam_SNF2_N,HMMSmart_SM00490,HMMPfam_Helicase_C,HMMPfam_HAND,superfamily_HAND domain of the nucleosome remodeling ATPase ISWI,HMMSmart_SM00717,superfamily_Homeodomain-like,HMMPfam_SLIDE - no_errors PLAC1 10761 genome.wustl.edu 36 X 133528098 133528098 + Missense_Mutation SNP T T A novel unknown TCGA-23-1114-01B-01W-0633-09 TCGA-23-1114-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0114ee8f-86b5-4353-b16b-45899cf9bfc5 6a619513-c467-4c62-96bc-cefa5de3c3a2 X 133528098 133528098 T A SNP PLAC1 NM_021796 human genbank 54_36p -1 provisional missense c.281 p.Y94F 0.138 NULL NULL - no_errors ENSG00000159247 0 genome.wustl.edu 36 9 140191156 140191156 + Missense_Mutation SNP G G T novel unknown TCGA-23-1114-01B-01W-0633-09 TCGA-23-1114-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0114ee8f-86b5-4353-b16b-45899cf9bfc5 6a619513-c467-4c62-96bc-cefa5de3c3a2 9 140191156 140191156 G T SNP ENSG00000159247 ENST00000290377 human ensembl 54_36p +1 known missense c.954 p.Q318H 0.995 superfamily_Tubulin C-terminal domain-like,HMMPfam_Tubulin_C superfamily_Tubulin nucleotide-binding domain-like,HMMPfam_Tubulin,PatternScan_TUBULIN,superfamily_Tubulin C-terminal domain-like,HMMPfam_Tubulin_C - no_start_codon PCDHB7 56129 genome.wustl.edu 36 5 140532628 140532628 + Missense_Mutation SNP C C A novel unknown TCGA-23-1114-01B-01W-0633-09 TCGA-23-1114-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0114ee8f-86b5-4353-b16b-45899cf9bfc5 6a619513-c467-4c62-96bc-cefa5de3c3a2 5 140532628 140532628 C A SNP PCDHB7 NM_018940 human genbank 54_36p +1 reviewed missense c.28 p.Q10K 0.009 NULL HMMPfam_Cadherin_2,superfamily_Cadherin-like,PatternScan_CADHERIN_1,HMMPfam_Cadherin,HMMSmart_SM00112 - no_errors PCDHB13 56123 genome.wustl.edu 36 5 140575467 140575467 + Missense_Mutation SNP C C T novel unknown TCGA-23-1114-01B-01W-0633-09 TCGA-23-1114-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0114ee8f-86b5-4353-b16b-45899cf9bfc5 6a619513-c467-4c62-96bc-cefa5de3c3a2 5 140575467 140575467 C T SNP PCDHB13 NM_018933 human genbank 54_36p +1 reviewed missense c.1588 p.R530C 0.000 superfamily_Cadherin,HMMPfam_Cadherin,HMMSmart_CA HMMPfam_Cadherin_2,superfamily_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,HMMPfam_Cadherin - no_errors MAGEC1 9947 genome.wustl.edu 36 X 140821692 140821692 + Missense_Mutation SNP C C A novel unknown TCGA-23-1114-01B-01W-0633-09 TCGA-23-1114-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0114ee8f-86b5-4353-b16b-45899cf9bfc5 6a619513-c467-4c62-96bc-cefa5de3c3a2 X 140821692 140821692 C A SNP MAGEC1 NM_005462 human genbank 54_36p +1 reviewed missense c.836 p.T279N 0.001 NULL HMMPfam_MAGE - no_errors LRP1B 53353 genome.wustl.edu 36 2 140931595 140931595 + Missense_Mutation SNP G G C novel unknown TCGA-23-1114-01B-01W-0633-09 TCGA-23-1114-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0114ee8f-86b5-4353-b16b-45899cf9bfc5 6a619513-c467-4c62-96bc-cefa5de3c3a2 2 140931595 140931595 G C SNP LRP1B NM_018557 human genbank 54_36p -1 validated missense c.9721 p.H3241D 1.000 superfamily_SSF63825,HMMSmart_LY,HMMPfam_Ldl_recept_b superfamily_LDL_rcpt_classA_cys-rich,HMMPfam_Ldl_recept_a,HMMSmart_LDLa,PatternScan_LDLRA_1,superfamily_SSF57196,HMMSmart_EGF,PatternScan_EGF_2,PatternScan_EGF_CA,HMMPfam_EGF_CA,HMMSmart_EGF_CA,PatternScan_ASX_HYDROXYL,superfamily_SSF63825,HMMSmart_LY,HMMPfam_Ldl_recept_b,HMMPfam_EGF,HMMPfam_NHL,HMMPfam_EGF_2,PatternScan_EGF_1 - no_errors FBXO38 81545 genome.wustl.edu 36 5 147787093 147787093 + Missense_Mutation SNP C C G novel unknown TCGA-23-1114-01B-01W-0633-09 TCGA-23-1114-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0114ee8f-86b5-4353-b16b-45899cf9bfc5 6a619513-c467-4c62-96bc-cefa5de3c3a2 5 147787093 147787093 C G SNP FBXO38 NM_205836 human genbank 54_36p +1 validated missense c.2043 p.I681M 1.000 NULL superfamily_F-box domain,HMMPfam_F-box,superfamily_RNI-like - no_errors ZNF282 8427 genome.wustl.edu 36 7 148526375 148526375 + Missense_Mutation SNP G G A novel unknown TCGA-23-1114-01B-01W-0633-09 TCGA-23-1114-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0114ee8f-86b5-4353-b16b-45899cf9bfc5 6a619513-c467-4c62-96bc-cefa5de3c3a2 7 148526375 148526375 G A SNP ZNF282 NM_003575 human genbank 54_36p +1 validated missense c.183 p.M61I 0.988 NULL superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1 - no_errors MBD5 55777 genome.wustl.edu 36 2 148963609 148963609 + Missense_Mutation SNP C C T novel unknown TCGA-23-1114-01B-01W-0633-09 TCGA-23-1114-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0114ee8f-86b5-4353-b16b-45899cf9bfc5 6a619513-c467-4c62-96bc-cefa5de3c3a2 2 148963609 148963609 C T SNP MBD5 NM_018328 human genbank 54_36p +1 validated missense c.3239 p.P1080L 0.910 NULL HMMSmart_SM00391,HMMPfam_MBD,superfamily_Tudor/PWWP/MBT,HMMPfam_PWWP - no_errors LCE2B 26239 genome.wustl.edu 36 1 150926230 150926230 + Missense_Mutation SNP C C A novel unknown TCGA-23-1114-01B-01W-0633-09 TCGA-23-1114-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0114ee8f-86b5-4353-b16b-45899cf9bfc5 6a619513-c467-4c62-96bc-cefa5de3c3a2 1 150926230 150926230 C A SNP LCE2B NM_014357 human genbank 54_36p +1 reviewed missense c.287 p.P96H 0.000 NULL NULL - no_errors AKAP12 9590 genome.wustl.edu 36 6 151711564 151711564 + Silent SNP G G C novel unknown TCGA-23-1114-01B-01W-0633-09 TCGA-23-1114-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0114ee8f-86b5-4353-b16b-45899cf9bfc5 6a619513-c467-4c62-96bc-cefa5de3c3a2 6 151711564 151711564 G C SNP AKAP12 NM_005100 human genbank 54_36p +1 reviewed silent c.345 p.V115 0.976 NULL HMMPfam_WSK,HMMPfam_RII_binding_1 - no_errors FUNDC2 65991 genome.wustl.edu 36 X 153936114 153936114 + Silent SNP A A G novel unknown TCGA-23-1114-01B-01W-0633-09 TCGA-23-1114-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0114ee8f-86b5-4353-b16b-45899cf9bfc5 6a619513-c467-4c62-96bc-cefa5de3c3a2 X 153936114 153936114 A G SNP FUNDC2 NM_023934 human genbank 54_36p +1 validated silent c.543 p.G181 1.000 HMMPfam_FUN14 HMMPfam_FUN14 - no_errors ODZ2 57451 genome.wustl.edu 36 5 167564074 167564074 + Missense_Mutation SNP G G C novel unknown TCGA-23-1114-01B-01W-0633-09 TCGA-23-1114-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0114ee8f-86b5-4353-b16b-45899cf9bfc5 6a619513-c467-4c62-96bc-cefa5de3c3a2 5 167564074 167564074 G C SNP ODZ2 ENST00000388903 human ensembl 54_36p +1 known missense c.3694 p.A1232P 1.000 superfamily_Concanavalin A-like lectins/glucanases,superfamily_NHL repeat HMMPfam_Ten_N,superfamily_EGF/Laminin,HMMSmart_SM00181,HMMPfam_EGF_2,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Carboxypeptidase regulatory domain,superfamily_NHL repeat,HMMPfam_NHL,HMMPfam_RHS_repeat - no_errors MYOC 4653 genome.wustl.edu 36 1 169871796 169871796 + Missense_Mutation SNP G G C novel unknown TCGA-23-1114-01B-01W-0633-09 TCGA-23-1114-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0114ee8f-86b5-4353-b16b-45899cf9bfc5 6a619513-c467-4c62-96bc-cefa5de3c3a2 1 169871796 169871796 G C SNP MYOC NM_000261 human genbank 54_36p -1 reviewed missense c.1407 p.N469K 0.996 HMMPfam_OLF,HMMSmart_SM00284 HMMPfam_OLF,HMMSmart_SM00284 - no_errors RBM45 129831 genome.wustl.edu 36 2 178685547 178685547 + Missense_Mutation SNP G G C novel unknown TCGA-23-1114-01B-01W-0633-09 TCGA-23-1114-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0114ee8f-86b5-4353-b16b-45899cf9bfc5 6a619513-c467-4c62-96bc-cefa5de3c3a2 2 178685547 178685547 G C SNP RBM45 NM_152945 human genbank 54_36p +1 provisional missense c.28 p.G10R 0.990 NULL HMMSmart_SM00360,HMMPfam_RRM_1,superfamily_RNA-binding domain RBD - no_errors CALCRL 10203 genome.wustl.edu 36 2 187919235 187919235 + Missense_Mutation SNP C C G novel unknown TCGA-23-1114-01B-01W-0633-09 TCGA-23-1114-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0114ee8f-86b5-4353-b16b-45899cf9bfc5 6a619513-c467-4c62-96bc-cefa5de3c3a2 2 187919235 187919235 C G SNP CALCRL NM_005795 human genbank 54_36p -1 validated missense c.1307 p.C436S 0.534 NULL superfamily_SSF111418,HMMSmart_HormR,HMMPfam_HRM,PatternScan_G_PROTEIN_RECEP_F2_1,HMMPfam_7tm_2,PatternScan_G_PROTEIN_RECEP_F2_2 - no_errors PMS1 5378 genome.wustl.edu 36 2 190437106 190437106 + Missense_Mutation SNP A A G novel unknown TCGA-23-1114-01B-01W-0633-09 TCGA-23-1114-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0114ee8f-86b5-4353-b16b-45899cf9bfc5 6a619513-c467-4c62-96bc-cefa5de3c3a2 2 190437106 190437106 A G SNP PMS1 NM_000534 human genbank 54_36p +1 reviewed missense c.2249 p.Y750C 1.000 NULL superfamily_ATP_bd_ATPase,HMMPfam_HATPase_c,HMMSmart_HATPase_c,PatternScan_DNA_MISMATCH_REPAIR_1,superfamily_Ribosomal_S5_D2-typ_fold,HMMPfam_DNA_mis_repair,superfamily_HMG-box,HMMSmart_HMG,HMMPfam_HMG_box - no_errors F13B 2165 genome.wustl.edu 36 1 195276458 195276458 + Missense_Mutation SNP T T C novel unknown TCGA-23-1114-01B-01W-0633-09 TCGA-23-1114-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0114ee8f-86b5-4353-b16b-45899cf9bfc5 6a619513-c467-4c62-96bc-cefa5de3c3a2 1 195276458 195276458 T C SNP F13B NM_001994 human genbank 54_36p -1 reviewed missense c.1769 p.E590G 0.753 superfamily_Complement_control_module superfamily_Complement_control_module,HMMPfam_Sushi,HMMSmart_CCP - no_errors REN 5972 genome.wustl.edu 36 1 202396352 202396352 + Missense_Mutation SNP T T C novel unknown TCGA-23-1114-01B-01W-0633-09 TCGA-23-1114-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0114ee8f-86b5-4353-b16b-45899cf9bfc5 6a619513-c467-4c62-96bc-cefa5de3c3a2 1 202396352 202396352 T C SNP REN NM_000537 human genbank 54_36p -1 reviewed missense c.451 p.T151A 0.870 superfamily_Acid proteases,HMMPfam_Asp superfamily_Acid proteases,HMMPfam_A1_Propeptide,HMMPfam_Asp,PatternScan_ASP_PROTEASE - no_errors GPR1 2825 genome.wustl.edu 36 2 206749327 206749327 + Missense_Mutation SNP C C T novel unknown TCGA-23-1114-01B-01W-0633-09 TCGA-23-1114-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0114ee8f-86b5-4353-b16b-45899cf9bfc5 6a619513-c467-4c62-96bc-cefa5de3c3a2 2 206749327 206749327 C T SNP GPR1 NM_001098199 human genbank 54_36p -1 validated missense c.890 p.S297N 1.000 superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1 superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1 - no_errors C2orf21 285175 genome.wustl.edu 36 2 210350488 210350488 + Missense_Mutation SNP T T A novel unknown TCGA-23-1114-01B-01W-0633-09 TCGA-23-1114-10A-01W-0633-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0114ee8f-86b5-4353-b16b-45899cf9bfc5 6a619513-c467-4c62-96bc-cefa5de3c3a2 2 210350488 210350488 T A SNP C2orf21 NM_182587 human genbank 54_36p +1 validated missense c.560 p.L187H 1.000 NULL NULL - no_errors RYR2 6262 genome.wustl.edu 36 1 235618091 235618091 + Missense_Mutation SNP G G T novel unknown TCGA-23-1114-01B-01W-0633-09 TCGA-23-1114-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0114ee8f-86b5-4353-b16b-45899cf9bfc5 6a619513-c467-4c62-96bc-cefa5de3c3a2 1 235618091 235618091 G T SNP RYR2 NM_001035 human genbank 54_36p +1 reviewed missense c.758 p.G253V 0.989 HMMSmart_SM00472,HMMPfam_MIR,superfamily_MIR domain (Pfam 02815) HMMPfam_Ins145_P3_rec,HMMSmart_SM00472,HMMPfam_MIR,superfamily_MIR domain (Pfam 02815),HMMPfam_RYDR_ITPR,HMMPfam_SPRY,HMMSmart_SM00449,HMMPfam_RyR,HMMPfam_RIH_assoc,superfamily_EF-hand,HMMPfam_RR_TM4-6,HMMPfam_Ion_trans - no_errors OR2T11 127077 genome.wustl.edu 36 1 246856593 246856593 + Missense_Mutation SNP A A T novel unknown TCGA-23-1114-01B-01W-0633-09 TCGA-23-1114-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0114ee8f-86b5-4353-b16b-45899cf9bfc5 6a619513-c467-4c62-96bc-cefa5de3c3a2 1 246856593 246856593 A T SNP OR2T11 NM_001001964 human genbank 54_36p -1 provisional missense c.460 p.F154I 0.003 superfamily_SSF81321,HMMPfam_7tm_1 PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1 - no_errors PYGB 5834 genome.wustl.edu 36 20 25225071 25225071 + Frame_Shift_Del DEL C C - novel unknown TCGA-23-1114-01B-01W-0633-09 TCGA-23-1114-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0114ee8f-86b5-4353-b16b-45899cf9bfc5 6a619513-c467-4c62-96bc-cefa5de3c3a2 20 25225071 25225071 C - DEL PYGB NM_002862 human genbank 54_36p +1 reviewed frame_shift_del c.2445 p.R816fs 1.000 superfamily_SSF53756,HMMPfam_Phosphorylase superfamily_SSF53756,HMMPfam_Phosphorylase,PatternScan_PHOSPHORYLASE (deletion:cds_exon[25225006,25225158]) no_errors FAM186B 84070 genome.wustl.edu 36 12 48280347 48280347 + Frame_Shift_Del DEL A A - novel unknown TCGA-23-1114-01B-01W-0633-09 TCGA-23-1114-10A-01W-0633-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0114ee8f-86b5-4353-b16b-45899cf9bfc5 6a619513-c467-4c62-96bc-cefa5de3c3a2 12 48280347 48280347 A - DEL FAM186B NM_032130 human genbank 54_36p -1 predicted frame_shift_del c.1343 p.F448fs 0.001 NULL NULL (deletion:cds_exon[48279519,48281184]) no_errors ABCA13 154664 genome.wustl.edu 36 7 48327316 48327339 + In_Frame_Del DEL GCTTTATCAGGAAATTCTACAATT GCTTTATCAGGAAATTCTACAATT - novel unknown TCGA-23-1114-01B-01W-0633-09 TCGA-23-1114-10A-01W-0633-09 GCTTTATCAGGAAATTCTACAATT GCTTTATCAGGAAATTCTACAATT Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0114ee8f-86b5-4353-b16b-45899cf9bfc5 6a619513-c467-4c62-96bc-cefa5de3c3a2 7 48327316 48327339 GCTTTATCAGGAAATTCTACAATT - DEL ABCA13 NM_152701 human genbank 54_36p +1 reviewed in_frame_del c.9713_9736 p.FIRKFYNC3239in_frame_del 1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.998:0.999:1.000:0.997:1.000:1.000:1.000:1.000:0.994 NULL PatternScan_SERPIN (deletion:cds_exon[48327300,48327439]) no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region TXNDC16 57544 genome.wustl.edu 36 14 52024901 52024902 + Frame_Shift_Del DEL AT AT - novel unknown TCGA-23-1114-01B-01W-0633-09 TCGA-23-1114-10A-01W-0633-09 AT AT Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0114ee8f-86b5-4353-b16b-45899cf9bfc5 6a619513-c467-4c62-96bc-cefa5de3c3a2 14 52024901 52024902 AT - DEL TXNDC16 NM_020784 human genbank 54_36p -1 provisional frame_shift_del c.1038_1037 p.H346fs 0.994:0.994 NULL superfamily_Thioredoxin-like,HMMPfam_Thioredoxin (deletion:cds_exon[52024831,52024954]) no_errors B3GNT2 10678 genome.wustl.edu 36 2 62303217 62303217 + Frame_Shift_Del DEL C C - novel unknown TCGA-23-1114-01B-01W-0633-09 TCGA-23-1114-10A-01W-0633-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0114ee8f-86b5-4353-b16b-45899cf9bfc5 6a619513-c467-4c62-96bc-cefa5de3c3a2 2 62303217 62303217 C - DEL B3GNT2 NM_006577 human genbank 54_36p +1 reviewed frame_shift_del c.358 p.L120fs 1.000 NULL HMMPfam_Galactosyl_T (deletion:cds_exon[62302860,62304053]) no_errors MUC13 56667 genome.wustl.edu 36 3 126113664 126113668 + Frame_Shift_Del DEL TAGCC TAGCC - novel unknown TCGA-23-1114-01B-01W-0633-09 TCGA-23-1114-10A-01W-0633-09 TAGCC TAGCC Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0114ee8f-86b5-4353-b16b-45899cf9bfc5 6a619513-c467-4c62-96bc-cefa5de3c3a2 3 126113664 126113668 TAGCC - DEL MUC13 NM_033049 human genbank 54_36p -1 validated frame_shift_del c.1226_1222 p.G408fs 0.618:0.659:0.661:0.652:0.580 NULL superfamily_EGF/Laminin,HMMSmart_SM00181,PatternScan_EGF_2,HMMPfam_SEA (deletion:cds_exon[126113641,126113678]) no_errors RPS14 6208 genome.wustl.edu 36 5 149806650 149806660 + Frame_Shift_Del DEL AGCATATGGTG AGCATATGGTG - novel unknown TCGA-23-1114-01B-01W-0633-09 TCGA-23-1114-10A-01W-0633-09 AGCATATGGTG AGCATATGGTG Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0114ee8f-86b5-4353-b16b-45899cf9bfc5 6a619513-c467-4c62-96bc-cefa5de3c3a2 5 149806650 149806660 AGCATATGGTG - DEL RPS14 NM_001025070 human genbank 54_36p -1 reviewed frame_shift_del c.219_209 p.S70fs 0.999:1.000:1.000:0.995:1.000:1.000:0.909:1.000:1.000:1.000:1.000 superfamily_Translational machinery components,HMMPfam_Ribosomal_S11 superfamily_Translational machinery components,HMMPfam_Ribosomal_S11,PatternScan_RIBOSOMAL_S11 (deletion:cds_exon[149806558,149806719]) no_errors NUF2 83540 genome.wustl.edu 36 1 161563964 161563973 + Frame_Shift_Del DEL ACATTTTTAC ACATTTTTAC - novel unknown TCGA-23-1114-01B-01W-0633-09 TCGA-23-1114-10A-01W-0633-09 ACATTTTTAC ACATTTTTAC Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0114ee8f-86b5-4353-b16b-45899cf9bfc5 6a619513-c467-4c62-96bc-cefa5de3c3a2 1 161563964 161563973 ACATTTTTAC - DEL NUF2 NM_031423 human genbank 54_36p +1 reviewed frame_shift_del c.186_195 p.H63fs 1.000:1.000:1.000:1.000:1.000:1.000:0.995:1.000:1.000:1.000 HMMPfam_Nuf2 HMMPfam_Nuf2 (deletion:cds_exon[161563902,161563976]) no_errors CACNA1S 779 genome.wustl.edu 36 1 199301633 199301633 + Frame_Shift_Del DEL G G - novel unknown TCGA-23-1114-01B-01W-0633-09 TCGA-23-1114-10A-01W-0633-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 0114ee8f-86b5-4353-b16b-45899cf9bfc5 6a619513-c467-4c62-96bc-cefa5de3c3a2 1 199301633 199301633 G - DEL CACNA1S NM_000069 human genbank 54_36p -1 reviewed frame_shift_del c.2809 p.L937fs 1.000 superfamily_SSF81324,HMMPfam_Ion_trans superfamily_SSF81324,HMMPfam_Ion_trans,HMMPfam_Ca_chan_IQ (deletion:cds_exon[199301589,199301696]) no_errors