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 default_gene_name gene_name_source BBS12 166379 genome.wustl.edu 37 4 123665067 123665067 + Missense_Mutation SNP C C T TCGA-C5-A1MP-01A-11D-A14W-08 TCGA-C5-A1MP-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d 3bb2b2a1-d6a2-40a9-8193-897a3d03d771 4 123665067 123665067 C T SNP BBS12 ENST00000314218 human ensembl 70_37 +1 known missense c.2020 p.R674C 1.000 superfamily_Cpn60/TCP-1 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1 - no_errors BBS12 HGNC BIRC6 57448 genome.wustl.edu 37 2 32666475 32666475 + Missense_Mutation SNP C C G TCGA-C5-A1MP-01A-11D-A14W-08 TCGA-C5-A1MP-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d 3bb2b2a1-d6a2-40a9-8193-897a3d03d771 2 32666475 32666475 C G SNP BIRC6 ENST00000421745 human ensembl 70_37 +1 known missense c.3889 p.Q1297E 1.000 NULL pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2 - no_errors BIRC6 HGNC CATSPERB 79820 genome.wustl.edu 37 14 92102780 92102780 + Silent SNP C C G TCGA-C5-A1MP-01A-11D-A14W-08 TCGA-C5-A1MP-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d 3bb2b2a1-d6a2-40a9-8193-897a3d03d771 14 92102780 92102780 C G SNP CATSPERB ENST00000256343 human ensembl 70_37 -1 known silent c.1731 p.V577 0.000 NULL superfamily_Neuraminidase - no_errors CATSPERB HGNC CCDC71 64925 genome.wustl.edu 37 3 49201117 49201117 + Silent SNP G G A TCGA-C5-A1MP-01A-11D-A14W-08 TCGA-C5-A1MP-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d 3bb2b2a1-d6a2-40a9-8193-897a3d03d771 3 49201117 49201117 G A SNP CCDC71 ENST00000321895 human ensembl 70_37 -1 known silent c.525 p.L175 1.000 NULL NULL - no_errors CCDC71 HGNC CENPF 1063 genome.wustl.edu 37 1 214830629 214830629 + Missense_Mutation SNP C C T TCGA-C5-A1MP-01A-11D-A14W-08 TCGA-C5-A1MP-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d 3bb2b2a1-d6a2-40a9-8193-897a3d03d771 1 214830629 214830629 C T SNP CENPF ENST00000366955 human ensembl 70_37 +1 known missense c.8839 p.P2947S 0.198 NULL pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_Centromere_CenpF_Rb-prot-bd - no_errors CENPF HGNC CHD1 1105 genome.wustl.edu 37 5 98217695 98217695 + Missense_Mutation SNP C C A TCGA-C5-A1MP-01A-11D-A14W-08 TCGA-C5-A1MP-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d 3bb2b2a1-d6a2-40a9-8193-897a3d03d771 5 98217695 98217695 C A SNP CHD1 ENST00000284049 human ensembl 70_37 -1 known missense c.2851 p.G951C 1.000 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD1 HGNC CR2 1380 genome.wustl.edu 37 1 207644373 207644373 + Silent SNP C C A TCGA-C5-A1MP-01A-11D-A14W-08 TCGA-C5-A1MP-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d 3bb2b2a1-d6a2-40a9-8193-897a3d03d771 1 207644373 207644373 C A SNP CR2 ENST00000367057 human ensembl 70_37 +1 known silent c.1434 p.L478 0.133 superfamily_Complement_control_module,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CR2 HGNC DALRD3 55152 genome.wustl.edu 37 3 49053403 49053403 + Silent SNP C C A TCGA-C5-A1MP-01A-11D-A14W-08 TCGA-C5-A1MP-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d 3bb2b2a1-d6a2-40a9-8193-897a3d03d771 3 49053403 49053403 C A SNP DALRD3 ENST00000440857 human ensembl 70_37 -1 novel silent c.945 p.V315 0.155 NULL superfamily_tRNAsynth_1a_anticodon-bd - no_errors DALRD3 HGNC DALRD3 55152 genome.wustl.edu 37 3 49053409 49053409 + Missense_Mutation SNP C C T TCGA-C5-A1MP-01A-11D-A14W-08 TCGA-C5-A1MP-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d 3bb2b2a1-d6a2-40a9-8193-897a3d03d771 3 49053409 49053409 C T SNP DALRD3 ENST00000441576 human ensembl 70_37 -1 known missense c.1414 p.D472N 1.000 NULL NULL - no_errors DALRD3 HGNC DALRD3 55152 genome.wustl.edu 37 3 49054734 49054734 + Missense_Mutation SNP C C G TCGA-C5-A1MP-01A-11D-A14W-08 TCGA-C5-A1MP-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d 3bb2b2a1-d6a2-40a9-8193-897a3d03d771 3 49054734 49054734 C G SNP DALRD3 ENST00000341949 human ensembl 70_37 -1 known missense c.854 p.C285S 1.000 NULL pfam_DALR_anticod-bd,superfamily_tRNAsynth_1a_anticodon-bd,smart_DALR_anticod-bd - no_errors DALRD3 HGNC DALRD3 55152 genome.wustl.edu 37 3 49054887 49054887 + Missense_Mutation SNP C C G TCGA-C5-A1MP-01A-11D-A14W-08 TCGA-C5-A1MP-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d 3bb2b2a1-d6a2-40a9-8193-897a3d03d771 3 49054887 49054887 C G SNP DALRD3 ENST00000341949 human ensembl 70_37 -1 known missense c.778 p.E260Q 0.000 NULL pfam_DALR_anticod-bd,superfamily_tRNAsynth_1a_anticodon-bd,smart_DALR_anticod-bd - no_errors DALRD3 HGNC DNAJC14 85406 genome.wustl.edu 37 12 56221839 56221839 + Missense_Mutation SNP G G A TCGA-C5-A1MP-01A-11D-A14W-08 TCGA-C5-A1MP-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d 3bb2b2a1-d6a2-40a9-8193-897a3d03d771 12 56221839 56221839 G A SNP DNAJC14 ENST00000317269 human ensembl 70_37 -1 known missense c.604 p.P202S 0.006 NULL pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJC14 HGNC ECM1 1893 genome.wustl.edu 37 1 150482445 150482445 + Silent SNP C C T TCGA-C5-A1MP-01A-11D-A14W-08 TCGA-C5-A1MP-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d 3bb2b2a1-d6a2-40a9-8193-897a3d03d771 1 150482445 150482445 C T SNP ECM1 ENST00000369049 human ensembl 70_37 +1 known silent c.352 p.L118 0.014 pfam_ECM1 pfam_ECM1,superfamily_Serum_albumin-like - no_errors ECM1 HGNC ESPNP 284729 genome.wustl.edu 37 1 17034125 17034126 + RNA INS - - AGCT TCGA-C5-A1MP-01A-11D-A14W-08 TCGA-C5-A1MP-10A-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d 3bb2b2a1-d6a2-40a9-8193-897a3d03d771 1 17034125 17034126 - AGCT INS ESPNP ENST00000492551 human ensembl 70_37 -1 known rna NULL NULL 1.000:1.000 - - - no_errors ESPNP HGNC GGT2 728441 genome.wustl.edu 37 22 21568105 21568105 + Silent SNP C C T TCGA-C5-A1MP-01A-11D-A14W-08 TCGA-C5-A1MP-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d 3bb2b2a1-d6a2-40a9-8193-897a3d03d771 22 21568105 21568105 C T SNP GGT2 ENST00000401924 human ensembl 70_37 -1 known silent c.792 p.P264 0.777 pfam_GGT_peptidase pfam_GGT_peptidase,prints_GGT_peptidase - no_errors GGT2 HGNC GLG1 2734 genome.wustl.edu 37 16 74528657 74528657 + Splice_Site SNP C C A TCGA-C5-A1MP-01A-11D-A14W-08 TCGA-C5-A1MP-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d 3bb2b2a1-d6a2-40a9-8193-897a3d03d771 16 74528657 74528657 C A SNP GLG1 ENST00000205061 human ensembl 70_37 -1 known splice_site c.1050+1 e6+1 1.000 - - - no_errors GLG1 HGNC GPR153 387509 genome.wustl.edu 37 1 6314644 6314644 + Missense_Mutation SNP G G A TCGA-C5-A1MP-01A-11D-A14W-08 TCGA-C5-A1MP-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d 3bb2b2a1-d6a2-40a9-8193-897a3d03d771 1 6314644 6314644 G A SNP GPR153 ENST00000377893 human ensembl 70_37 -1 known missense c.322 p.R108C 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_153,prints_GPCR_153/162 - no_errors GPR153 HGNC GRID2 2895 genome.wustl.edu 37 4 93225752 93225753 + RNA INS - - A TCGA-C5-A1MP-01A-11D-A14W-08 TCGA-C5-A1MP-10A-01D-A14W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d 3bb2b2a1-d6a2-40a9-8193-897a3d03d771 4 93225752 93225753 - A INS GRID2 ENST00000505687 human ensembl 70_37 +1 known rna NULL NULL 0.001:0.000 - - - no_errors GRID2 HGNC KCNK16 83795 genome.wustl.edu 37 6 39286797 39286797 + Missense_Mutation SNP A A G TCGA-C5-A1MP-01A-11D-A14W-08 TCGA-C5-A1MP-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d 3bb2b2a1-d6a2-40a9-8193-897a3d03d771 6 39286797 39286797 A G SNP KCNK16 ENST00000425054 human ensembl 70_37 -1 known missense c.326 p.I109T 1.000 pfam_Ion_trans_2,prints_2pore_dom_K_chnl pfam_Ion_trans_2,prints_2pore_dom_K_chnl - no_errors KCNK16 HGNC KIF13A 63971 genome.wustl.edu 37 6 17850652 17850652 + Missense_Mutation SNP G G C TCGA-C5-A1MP-01A-11D-A14W-08 TCGA-C5-A1MP-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d 3bb2b2a1-d6a2-40a9-8193-897a3d03d771 6 17850652 17850652 G C SNP KIF13A ENST00000259711 human ensembl 70_37 -1 known missense c.619 p.R207G 1.000 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_KIF1B,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF13A HGNC KRTAP4-6 81871 genome.wustl.edu 37 17 39296167 39296167 + Silent SNP A A G TCGA-C5-A1MP-01A-11D-A14W-08 TCGA-C5-A1MP-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d 3bb2b2a1-d6a2-40a9-8193-897a3d03d771 17 39296167 39296167 A G SNP KRTAP4-6 ENST00000345847 human ensembl 70_37 -1 known silent c.573 p.I191 0.075 NULL pfam_Keratin-assoc - no_errors KRTAP4-6 HGNC L1CAM 3897 genome.wustl.edu 37 X 153128962 153128962 + Missense_Mutation SNP G G A TCGA-C5-A1MP-01A-11D-A14W-08 TCGA-C5-A1MP-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d 3bb2b2a1-d6a2-40a9-8193-897a3d03d771 X 153128962 153128962 G A SNP L1CAM ENST00000543994 human ensembl 70_37 -1 known missense c.3506 p.P1169L 0.996 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors L1CAM HGNC OTOP1 133060 genome.wustl.edu 37 4 4190576 4190576 + Missense_Mutation SNP C C G TCGA-C5-A1MP-01A-11D-A14W-08 TCGA-C5-A1MP-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d 3bb2b2a1-d6a2-40a9-8193-897a3d03d771 4 4190576 4190576 C G SNP OTOP1 ENST00000296358 human ensembl 70_37 -1 known missense c.1793 p.R598P 1.000 pfam_Otopetrin pfam_Otopetrin - no_errors OTOP1 HGNC OTOP1 133060 genome.wustl.edu 37 4 4190577 4190577 + Missense_Mutation SNP G G C TCGA-C5-A1MP-01A-11D-A14W-08 TCGA-C5-A1MP-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d 3bb2b2a1-d6a2-40a9-8193-897a3d03d771 4 4190577 4190577 G C SNP OTOP1 ENST00000296358 human ensembl 70_37 -1 known missense c.1792 p.R598G 1.000 pfam_Otopetrin pfam_Otopetrin - no_errors OTOP1 HGNC PCDH11X 27328 genome.wustl.edu 37 X 91132649 91132649 + Silent SNP C C T TCGA-C5-A1MP-01A-11D-A14W-08 TCGA-C5-A1MP-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d 3bb2b2a1-d6a2-40a9-8193-897a3d03d771 X 91132649 91132649 C T SNP PCDH11X ENST00000373094 human ensembl 70_37 +1 known silent c.1410 p.F470 0.076 superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH11X HGNC PDE4DIP 9659 genome.wustl.edu 37 1 144879063 144879063 + Missense_Mutation SNP C C T TCGA-C5-A1MP-01A-11D-A14W-08 TCGA-C5-A1MP-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d 3bb2b2a1-d6a2-40a9-8193-897a3d03d771 1 144879063 144879063 C T SNP PDE4DIP ENST00000369356 human ensembl 70_37 -1 known missense c.4387 p.E1463K 1.000 NULL pfam_Spindle_assoc,superfamily_ARM-type_fold - no_errors PDE4DIP HGNC PDE4DIP 9659 genome.wustl.edu 37 1 144879256 144879256 + Silent SNP C C A TCGA-C5-A1MP-01A-11D-A14W-08 TCGA-C5-A1MP-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d 3bb2b2a1-d6a2-40a9-8193-897a3d03d771 1 144879256 144879256 C A SNP PDE4DIP ENST00000369356 human ensembl 70_37 -1 known silent c.4194 p.L1398 1.000 NULL pfam_Spindle_assoc,superfamily_ARM-type_fold - no_errors PDE4DIP HGNC PPP6R3 55291 genome.wustl.edu 37 11 68312347 68312347 + Missense_Mutation SNP C C G TCGA-C5-A1MP-01A-11D-A14W-08 TCGA-C5-A1MP-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d 3bb2b2a1-d6a2-40a9-8193-897a3d03d771 11 68312347 68312347 C G SNP PPP6R3 ENST00000393799 human ensembl 70_37 +1 known missense c.269 p.S90C 1.000 NULL pfam_SAPS,superfamily_ARM-type_fold - no_errors PPP6R3 HGNC PPP6R3 55291 genome.wustl.edu 37 11 68312450 68312450 + Silent SNP C C T TCGA-C5-A1MP-01A-11D-A14W-08 TCGA-C5-A1MP-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d 3bb2b2a1-d6a2-40a9-8193-897a3d03d771 11 68312450 68312450 C T SNP PPP6R3 ENST00000393799 human ensembl 70_37 +1 known silent c.372 p.F124 1.000 superfamily_ARM-type_fold pfam_SAPS,superfamily_ARM-type_fold - no_errors PPP6R3 HGNC PRB2 653247 genome.wustl.edu 37 12 11547437 11547437 + Missense_Mutation SNP A A G TCGA-C5-A1MP-01A-11D-A14W-08 TCGA-C5-A1MP-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d 3bb2b2a1-d6a2-40a9-8193-897a3d03d771 12 11547437 11547437 A G SNP PRB2 ENST00000389362 human ensembl 70_37 -1 known missense c.92 p.L31P 0.000 NULL NULL - no_errors PRB2 HGNC RAB10 10890 genome.wustl.edu 37 2 26257498 26257498 + Silent SNP C C T TCGA-C5-A1MP-01A-11D-A14W-08 TCGA-C5-A1MP-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d 3bb2b2a1-d6a2-40a9-8193-897a3d03d771 2 26257498 26257498 C T SNP RAB10 ENST00000264710 human ensembl 70_37 +1 known silent c.21 p.D7 1.000 smart_Small_GTPase_ARF,smart_Small_GTPase_Ras pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB10 HGNC RHAG 6005 genome.wustl.edu 37 6 49582479 49582479 + Missense_Mutation SNP G G A TCGA-C5-A1MP-01A-11D-A14W-08 TCGA-C5-A1MP-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d 3bb2b2a1-d6a2-40a9-8193-897a3d03d771 6 49582479 49582479 G A SNP RHAG ENST00000371175 human ensembl 70_37 -1 known missense c.728 p.T243M 1.000 pfam_NH4_transpt_AmtB-like,superfamily_NH4_transpt_AmtB-like,prints_RhesusRHD pfam_NH4_transpt_AmtB-like,superfamily_NH4_transpt_AmtB-like,prints_RhesusRHD - no_errors RHAG HGNC ROS1 6098 genome.wustl.edu 37 6 117662663 117662663 + Missense_Mutation SNP G G A TCGA-C5-A1MP-01A-11D-A14W-08 TCGA-C5-A1MP-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d 3bb2b2a1-d6a2-40a9-8193-897a3d03d771 6 117662663 117662663 G A SNP ROS1 ENST00000368508 human ensembl 70_37 -1 known missense c.4802 p.A1601V 0.027 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_LDLR_classB_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ROS1 HGNC RPL10 6134 genome.wustl.edu 37 X 153629109 153629109 + Missense_Mutation SNP G G A TCGA-C5-A1MP-01A-11D-A14W-08 TCGA-C5-A1MP-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d 3bb2b2a1-d6a2-40a9-8193-897a3d03d771 X 153629109 153629109 G A SNP RPL10 ENST00000344746 human ensembl 70_37 +1 known missense c.559 p.E187K 1.000 pirsf_Ribosomal_L10e pfam_Ribosomal_L10e/L16,superfamily_Ribosomal_L10e/L16,pirsf_Ribosomal_L10e,tigrfam_Ribosomal_L10e - no_errors RPL10 HGNC SLC47A1 55244 genome.wustl.edu 37 17 19451432 19451432 + Missense_Mutation SNP C C G TCGA-C5-A1MP-01A-11D-A14W-08 TCGA-C5-A1MP-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d 3bb2b2a1-d6a2-40a9-8193-897a3d03d771 17 19451432 19451432 C G SNP SLC47A1 ENST00000395585 human ensembl 70_37 +1 known missense c.441 p.D147E 1.000 pfam_MATE,tigrfam_MATE pfam_MATE,tigrfam_MATE - no_errors SLC47A1 HGNC SNX17 9784 genome.wustl.edu 37 2 27599219 27599219 + Missense_Mutation SNP G G A TCGA-C5-A1MP-01A-11D-A14W-08 TCGA-C5-A1MP-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d 3bb2b2a1-d6a2-40a9-8193-897a3d03d771 2 27599219 27599219 G A SNP SNX17 ENST00000233575 human ensembl 70_37 +1 known missense c.1222 p.D408N 1.000 NULL pfam_Phox,superfamily_Phox,superfamily_FERM_central,smart_Phox,pfscan_Phox,pfscan_Ras-assoc - no_errors SNX17 HGNC SNX25 83891 genome.wustl.edu 37 4 186180183 186180183 + Silent SNP C C T TCGA-C5-A1MP-01A-11D-A14W-08 TCGA-C5-A1MP-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d 3bb2b2a1-d6a2-40a9-8193-897a3d03d771 4 186180183 186180183 C T SNP SNX25 ENST00000264694 human ensembl 70_37 +1 known silent c.204 p.L68 1.000 pfam_Phox_assoc,smart_PX_assoc_Snx13,pfscan_Phox_assoc pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_Regulat_G_prot_signal,pfam_Phox,superfamily_Regulat_G_prot_signal_superfam,superfamily_Phox,smart_PX_assoc_Snx13,smart_Regulat_G_prot_signal,smart_Phox,pfscan_Phox,pfscan_Phox_assoc,pfscan_Regulat_G_prot_signal - no_errors SNX25 HGNC SRCAP 10847 genome.wustl.edu 37 16 30749702 30749702 + Missense_Mutation SNP G G A TCGA-C5-A1MP-01A-11D-A14W-08 TCGA-C5-A1MP-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d 3bb2b2a1-d6a2-40a9-8193-897a3d03d771 16 30749702 30749702 G A SNP SRCAP ENST00000262518 human ensembl 70_37 +1 known missense c.8341 p.V2781I 0.999 NULL pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like - no_errors SRCAP HGNC STXBP1 6812 genome.wustl.edu 37 9 130425708 130425708 + RNA SNP C C T TCGA-C5-A1MP-01A-11D-A14W-08 TCGA-C5-A1MP-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d 3bb2b2a1-d6a2-40a9-8193-897a3d03d771 9 130425708 130425708 C T SNP STXBP1 ENST00000496504 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors STXBP1 HGNC STXBP1 6812 genome.wustl.edu 37 9 130425709 130425709 + RNA SNP C C T TCGA-C5-A1MP-01A-11D-A14W-08 TCGA-C5-A1MP-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d 3bb2b2a1-d6a2-40a9-8193-897a3d03d771 9 130425709 130425709 C T SNP STXBP1 ENST00000496504 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors STXBP1 HGNC SYNE1 23345 genome.wustl.edu 37 6 152655170 152655170 + Missense_Mutation SNP A A C TCGA-C5-A1MP-01A-11D-A14W-08 TCGA-C5-A1MP-10A-01D-A14W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d 3bb2b2a1-d6a2-40a9-8193-897a3d03d771 6 152655170 152655170 A C SNP SYNE1 ENST00000265368 human ensembl 70_37 -1 known missense c.12767 p.F4256C 1.000 superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1 pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC TGFB3 7043 genome.wustl.edu 37 14 76438001 76438001 + Missense_Mutation SNP G G A TCGA-C5-A1MP-01A-11D-A14W-08 TCGA-C5-A1MP-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d 3bb2b2a1-d6a2-40a9-8193-897a3d03d771 14 76438001 76438001 G A SNP TGFB3 ENST00000238682 human ensembl 70_37 -1 known missense c.413 p.S138L 0.999 pfam_TGF-b_N,pirsf_TGF-beta,prints_Transform_grow_fac_b3 pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C,pirsf_TGF-beta,prints_Transform_grow_fac_b3,prints_TGF-beta - no_errors TGFB3 HGNC TRIM42 287015 genome.wustl.edu 37 3 140401673 140401673 + Silent SNP C C T TCGA-C5-A1MP-01A-11D-A14W-08 TCGA-C5-A1MP-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d 3bb2b2a1-d6a2-40a9-8193-897a3d03d771 3 140401673 140401673 C T SNP TRIM42 ENST00000286349 human ensembl 70_37 +1 known silent c.711 p.L237 0.804 smart_Znf_B-box pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Znf_B-box,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM42 HGNC UBA52 7311 genome.wustl.edu 37 19 18684538 18684538 + Missense_Mutation SNP C C T TCGA-C5-A1MP-01A-11D-A14W-08 TCGA-C5-A1MP-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d 3bb2b2a1-d6a2-40a9-8193-897a3d03d771 19 18684538 18684538 C T SNP UBA52 ENST00000430157 human ensembl 70_37 +1 known missense c.170 p.S57L 0.999 pfam_Ubiquitin,pfam_SUMO,smart_Ubiquitin,pfscan_Ubiquitin_supergroup,prints_Ubiquitin_subgr pfam_Ubiquitin,pfam_Ribosomal_L40e,pfam_SUMO,smart_Ubiquitin,pfscan_Ubiquitin_supergroup,prints_Ubiquitin_subgr - no_errors UBA52 HGNC UGT2B17 7367 genome.wustl.edu 37 4 69433510 69433510 + Missense_Mutation SNP C C G TCGA-C5-A1MP-01A-11D-A14W-08 TCGA-C5-A1MP-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d 3bb2b2a1-d6a2-40a9-8193-897a3d03d771 4 69433510 69433510 C G SNP UGT2B17 ENST00000317746 human ensembl 70_37 -1 known missense c.693 p.K231N 0.912 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2B17 HGNC USH2A 7399 genome.wustl.edu 37 1 216465554 216465554 + Silent SNP T T C TCGA-C5-A1MP-01A-11D-A14W-08 TCGA-C5-A1MP-10A-01D-A14W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d 3bb2b2a1-d6a2-40a9-8193-897a3d03d771 1 216465554 216465554 T C SNP USH2A ENST00000366943 human ensembl 70_37 -1 known silent c.1803 p.G601 0.477 pfam_EGF_laminin,smart_EGF_laminin pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC WDR6 11180 genome.wustl.edu 37 3 49051891 49051891 + Silent SNP C C G TCGA-C5-A1MP-01A-11D-A14W-08 TCGA-C5-A1MP-10A-01D-A14W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d 3bb2b2a1-d6a2-40a9-8193-897a3d03d771 3 49051891 49051891 C G SNP WDR6 ENST00000395474 human ensembl 70_37 +1 known silent c.2832 p.L944 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Quino_amine_DH_bsu,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR6 HGNC ZER1 10444 genome.wustl.edu 37 9 131513487 131513487 + Missense_Mutation SNP G G A TCGA-C5-A1MP-01A-11D-A14W-08 TCGA-C5-A1MP-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d 3bb2b2a1-d6a2-40a9-8193-897a3d03d771 9 131513487 131513487 G A SNP ZER1 ENST00000291900 human ensembl 70_37 -1 known missense c.1099 p.R367W 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold,smart_Armadillo - no_errors ZER1 HGNC ZNF578 147660 genome.wustl.edu 37 19 53014316 53014316 + Missense_Mutation SNP G G C TCGA-C5-A1MP-01A-11D-A14W-08 TCGA-C5-A1MP-10A-01D-A14W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6abb7bd4-a5e6-42e6-9fb3-c65b8abf8d3d 3bb2b2a1-d6a2-40a9-8193-897a3d03d771 19 53014316 53014316 G C SNP ZNF578 ENST00000421239 human ensembl 70_37 +1 known missense c.682 p.E228Q 0.066 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF578 HGNC