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 ABCA3 21 genome.wustl.edu 37 16 2345606 2345606 + Missense_Mutation SNP C C A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 16 2345606 2345606 C A SNP ABCA3 ENST00000301732 human ensembl 70_37 -1 known missense c.2399 p.R800I 1.000 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA3 HGNC ACIN1 22985 genome.wustl.edu 37 14 23532260 23532260 + Nonsense_Mutation SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 14 23532260 23532260 G A SNP ACIN1 ENST00000262710 human ensembl 70_37 -1 known nonsense c.2935 p.R979* 0.741 NULL pfam_SAP_DNA-bd,smart_SAP_DNA-bd,pfscan_SAP_DNA-bd - no_errors ACIN1 HGNC ACTL6B 51412 genome.wustl.edu 37 7 100252740 100252740 + Missense_Mutation SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 7 100252740 100252740 C T SNP ACTL6B ENST00000160382 human ensembl 70_37 -1 known missense c.271 p.E91K 1.000 pfam_Actin-like,smart_Actin-like pfam_Actin-like,smart_Actin-like,prints_Actin-like - no_errors ACTL6B HGNC ADAMTS7 11173 genome.wustl.edu 37 15 79058074 79058074 + Silent SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 15 79058074 79058074 C T SNP ADAMTS7 ENST00000388820 human ensembl 70_37 -1 known silent c.4179 p.P1393 0.000 NULL pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS7 HGNC ADRA1A 148 genome.wustl.edu 37 8 26722096 26722096 + Missense_Mutation SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 8 26722096 26722096 G A SNP ADRA1A ENST00000380586 human ensembl 70_37 -1 known missense c.391 p.P131S 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Adrene_rcpt_A1Cs,prints_GPCR_Rhodpsn,prints_Adrnrgc_rcpt - no_errors ADRA1A HGNC AEBP2 121536 genome.wustl.edu 37 12 19646858 19646858 + Missense_Mutation SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 12 19646858 19646858 C T SNP AEBP2 ENST00000398864 human ensembl 70_37 +1 known missense c.1112 p.S371F 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors AEBP2 HGNC AFP 174 genome.wustl.edu 37 4 74304004 74304004 + Missense_Mutation SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 4 74304004 74304004 C T SNP AFP ENST00000395792 human ensembl 70_37 +1 known missense c.251 p.S84L 0.000 pfam_Serum_albumin_N,superfamily_Serum_albumin-like,smart_Serum_albumin_N,pirsf_Serum_albumin_subgr pfam_Serum_albumin_N,superfamily_Serum_albumin-like,smart_Serum_albumin_N,pirsf_Serum_albumin_subgr,prints_Alpha-fetoprotein,prints_Serum_albumin - no_errors AFP HGNC AKAP10 11216 genome.wustl.edu 37 17 19844226 19844226 + Missense_Mutation SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 17 19844226 19844226 C T SNP AKAP10 ENST00000225737 human ensembl 70_37 -1 known missense c.1159 p.E387K 1.000 pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal - no_errors AKAP10 HGNC ALOX15 246 genome.wustl.edu 37 17 4541560 4541560 + Silent SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 17 4541560 4541560 G A SNP ALOX15 ENST00000545513 human ensembl 70_37 -1 known silent c.825 p.F275 0.662 pfam_LipOase_C,superfamily_LipOase_C pfam_LipOase_C,pfam_LipOase_LH2,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2,prints_LipOase_mml,prints_LipOase_C - no_errors ALOX15 HGNC ANO4 121601 genome.wustl.edu 37 12 101480535 101480535 + Missense_Mutation SNP A A G TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 12 101480535 101480535 A G SNP ANO4 ENST00000392977 human ensembl 70_37 +1 known missense c.1634 p.N545S 1.000 pfam_Anoctamin pfam_Anoctamin - no_errors ANO4 HGNC APBB3 10307 genome.wustl.edu 37 5 139943250 139943250 + Silent SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 5 139943250 139943250 C T SNP APBB3 ENST00000356738 human ensembl 70_37 -1 known silent c.219 p.T73 0.000 NULL pfam_PTyr_interaction_dom,pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom,pfscan_WW_Rsp5_WWP - no_errors APBB3 HGNC APOD 347 genome.wustl.edu 37 3 195295997 195295997 + Missense_Mutation SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 3 195295997 195295997 G A SNP APOD ENST00000343267 human ensembl 70_37 -1 known missense c.344 p.S115L 0.002 pfam_Lipocln_cytosolic_FA-bd_dom,pfam_Triabin_pallidipin/procalin,superfamily_Calycin-like,pirsf_Lipocalin_ApoD pfam_Lipocln_cytosolic_FA-bd_dom,pfam_Triabin_pallidipin/procalin,superfamily_Calycin-like,pirsf_Lipocalin_ApoD,prints_ApolipopD,prints_Invtbrt_color,prints_Lipocalin,prints_Lipocalin_bac - no_errors APOD HGNC APPL2 55198 genome.wustl.edu 37 12 105589110 105589110 + Silent SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 12 105589110 105589110 C T SNP APPL2 ENST00000551662 human ensembl 70_37 -1 known silent c.1188 p.L396 1.000 NULL pfam_PTyr_interaction_dom,pfam_Pleckstrin_homology,pfam_PTB,smart_Pleckstrin_homology,smart_PTyr_interaction_dom,pfscan_Pleckstrin_homology,pfscan_PTyr_interaction_dom - no_errors APPL2 HGNC ARGFX 503582 genome.wustl.edu 37 3 121304901 121304901 + Missense_Mutation SNP G G C TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 3 121304901 121304901 G C SNP ARGFX ENST00000334384 human ensembl 70_37 +1 known missense c.402 p.K134N 0.027 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors ARGFX HGNC ARL9 132946 genome.wustl.edu 37 4 57377384 57377384 + Missense_Mutation SNP G G C TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 4 57377384 57377384 G C SNP ARL9 ENST00000360096 human ensembl 70_37 +1 known missense c.79 p.D27H 1.000 pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_MIRO-like,pfam_Small_GTPase,pfam_Gtr1_RagA,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_MIRO-like,pfam_Small_GTPase,pfam_Gtr1_RagA,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors ARL9 HGNC ATP8B2 57198 genome.wustl.edu 37 1 154304127 154304127 + Silent SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 1 154304127 154304127 C T SNP ATP8B2 ENST00000368489 human ensembl 70_37 +1 known silent c.510 p.I170 1.000 pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_Plipid-transl pfam_ATPase_P-typ_ATPase-assoc-dom,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP8B2 HGNC AURKA 6790 genome.wustl.edu 37 20 54963252 54963252 + Missense_Mutation SNP A A C TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 20 54963252 54963252 A C SNP AURKA ENST00000312783 human ensembl 70_37 -1 known missense c.2 p.M1R 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors AURKA HGNC BCR 613 genome.wustl.edu 37 22 23523873 23523873 + Silent SNP C C G TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 22 23523873 23523873 C G SNP BCR ENST00000305877 human ensembl 70_37 +1 known silent c.726 p.V242 0.068 NULL pfam_RhoGAP_dom,pfam_Bcr-Abl_oncoprot_oligo,pfam_DH-domain,pfam_C2_Ca-dep,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_DH-domain,superfamily_Bcr-Abl_oncoprot_oligo,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RhoGAP_dom,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom,pfscan_DH-domain - no_errors BCR HGNC BIN3 55909 genome.wustl.edu 37 8 22494060 22494060 + Silent SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 8 22494060 22494060 C T SNP BIN3 ENST00000276416 human ensembl 70_37 -1 known silent c.138 p.K46 1.000 pfam_BAR_dom,pfam_Vps5_C,smart_BAR_dom,pfscan_BAR_dom pfam_BAR_dom,pfam_Vps5_C,smart_BAR_dom,pfscan_BAR_dom - no_errors BIN3 HGNC BMP3 651 genome.wustl.edu 37 4 81952680 81952680 + Missense_Mutation SNP G G T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 4 81952680 81952680 G T SNP BMP3 ENST00000282701 human ensembl 70_37 +1 known missense c.242 p.G81V 0.003 pfam_TGF-b_N,pirsf_BMP3/GDF10 pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,pirsf_BMP3/GDF10 - no_errors BMP3 HGNC BTBD9 114781 genome.wustl.edu 37 6 38548069 38548069 + Missense_Mutation SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 6 38548069 38548069 G A SNP BTBD9 ENST00000403056 human ensembl 70_37 -1 known missense c.959 p.S320F 0.985 pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like pfam_BTB_POZ,pfam_BACK,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_BTB/POZ_fold,superfamily_Galactose-bd-like,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors BTBD9 HGNC C12orf42 374470 genome.wustl.edu 37 12 103696206 103696206 + Nonsense_Mutation SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 12 103696206 103696206 G A SNP C12orf42 ENST00000378113 human ensembl 70_37 -1 known nonsense c.763 p.Q255* 0.000 NULL NULL - no_errors C12orf42 HGNC C12orf42 374470 genome.wustl.edu 37 12 103696275 103696275 + Missense_Mutation SNP G G C TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 12 103696275 103696275 G C SNP C12orf42 ENST00000378113 human ensembl 70_37 -1 known missense c.694 p.L232V 0.000 NULL NULL - no_errors C12orf42 HGNC C12orf42 374470 genome.wustl.edu 37 12 103696334 103696334 + Missense_Mutation SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 12 103696334 103696334 G A SNP C12orf42 ENST00000378113 human ensembl 70_37 -1 known missense c.635 p.S212F 0.000 NULL NULL - no_errors C12orf42 HGNC C17orf50 146853 genome.wustl.edu 37 17 34091481 34091481 + Missense_Mutation SNP G G T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 17 34091481 34091481 G T SNP C17orf50 ENST00000285023 human ensembl 70_37 +1 known missense c.369 p.E123D 0.929 NULL NULL - no_errors C17orf50 HGNC C1orf54 79630 genome.wustl.edu 37 1 150248963 150248963 + Missense_Mutation SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 1 150248963 150248963 G A SNP C1orf54 ENST00000369099 human ensembl 70_37 +1 known missense c.223 p.E75K 0.034 NULL NULL - no_errors C1orf54 HGNC C20orf173 140873 genome.wustl.edu 37 20 34117114 34117114 + Missense_Mutation SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 20 34117114 34117114 G A SNP C20orf173 ENST00000444723 human ensembl 70_37 -1 known missense c.89 p.S30L 0.000 NULL NULL - no_errors C20orf173 HGNC C2orf91 400950 genome.wustl.edu 37 2 42180244 42180244 + Silent SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 2 42180244 42180244 G A SNP C2orf91 ENST00000378711 human ensembl 70_37 -1 novel silent c.192 p.L64 0.001 NULL NULL - no_errors C2orf91 HGNC C9orf114 51490 genome.wustl.edu 37 9 131588514 131588514 + RNA SNP C C G TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 9 131588514 131588514 C G SNP C9orf114 ENST00000466556 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors C9orf114 HGNC CAAP1 79886 genome.wustl.edu 37 9 26842620 26842620 + Nonsense_Mutation SNP G G C TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 9 26842620 26842620 G C SNP CAAP1 ENST00000520187 human ensembl 70_37 -1 putative nonsense c.329 p.S110* 1.000 NULL NULL - no_errors CAAP1 HGNC CACTIN 58509 genome.wustl.edu 37 19 3610756 3610756 + Missense_Mutation SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 19 3610756 3610756 G A SNP CACTIN ENST00000221899 human ensembl 70_37 -1 known missense c.2513 p.S838F 0.000 NULL pfam_Cactin_dom,pfam_Cactin_C - no_errors CACTIN HGNC CADPS 8618 genome.wustl.edu 37 3 62499350 62499350 + Silent SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 3 62499350 62499350 G A SNP CADPS ENST00000283269 human ensembl 70_37 -1 known silent c.2613 p.V871 1.000 pfam_Ca-dep_secretion_activator pfam_Ca-dep_secretion_activator,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors CADPS HGNC CAMTA1 23261 genome.wustl.edu 37 1 7724159 7724159 + Missense_Mutation SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 1 7724159 7724159 G A SNP CAMTA1 ENST00000303635 human ensembl 70_37 +1 known missense c.1552 p.G518R 0.010 NULL pfam_CG-1_dom,pfam_IPT_TIG_rcpt,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS - no_errors CAMTA1 HGNC CATSPER2 117155 genome.wustl.edu 37 15 43931925 43931925 + Silent SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 15 43931925 43931925 G A SNP CATSPER2 ENST00000299989 human ensembl 70_37 -1 known silent c.633 p.I211 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom - no_errors CATSPER2 HGNC CCDC37 348807 genome.wustl.edu 37 3 126133025 126133025 + Silent SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 3 126133025 126133025 G A SNP CCDC37 ENST00000510833 human ensembl 70_37 +1 putative silent c.228 p.V76 0.985 NULL NULL - no_errors CCDC37 HGNC CCDC83 220047 genome.wustl.edu 37 11 85627082 85627082 + Missense_Mutation SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 11 85627082 85627082 G A SNP CCDC83 ENST00000280245 human ensembl 70_37 +1 known missense c.979 p.E327K 0.000 NULL NULL - no_errors CCDC83 HGNC CCNT2 905 genome.wustl.edu 37 2 135711875 135711875 + Missense_Mutation SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 2 135711875 135711875 C T SNP CCNT2 ENST00000264157 human ensembl 70_37 +1 known missense c.1850 p.S617L 0.997 NULL pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNT2 HGNC CDH7 1005 genome.wustl.edu 37 18 63430284 63430284 + Missense_Mutation SNP G G C TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 18 63430284 63430284 G C SNP CDH7 ENST00000323011 human ensembl 70_37 +1 known missense c.206 p.G69A 1.000 pfam_Cadherin,superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH7 HGNC CDK18 5129 genome.wustl.edu 37 1 205499656 205499656 + RNA SNP G G T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 1 205499656 205499656 G T SNP CDK18 ENST00000459862 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors CDK18 HGNC CEP192 55125 genome.wustl.edu 37 18 13049779 13049779 + Missense_Mutation SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 18 13049779 13049779 C T SNP CEP192 ENST00000506447 human ensembl 70_37 +1 known missense c.2906 p.S969F 0.995 NULL NULL - no_errors CEP192 HGNC CEP192 55125 genome.wustl.edu 37 18 13049781 13049781 + Missense_Mutation SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 18 13049781 13049781 C T SNP CEP192 ENST00000506447 human ensembl 70_37 +1 known missense c.2908 p.P970S 0.994 NULL NULL - no_errors CEP192 HGNC CHD2 1106 genome.wustl.edu 37 15 93558026 93558026 + Nonsense_Mutation SNP C C G TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 15 93558026 93558026 C G SNP CHD2 ENST00000557381 human ensembl 70_37 +1 putative nonsense c.4793 p.S1598* 0.616 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 CHD2 HGNC CNOT1 23019 genome.wustl.edu 37 16 58581544 58581544 + Missense_Mutation SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 16 58581544 58581544 G A SNP CNOT1 ENST00000317147 human ensembl 70_37 -1 known missense c.3565 p.R1189C 1.000 NULL pfam_CCR4-Not_Not1_C,superfamily_ARM-type_fold - no_errors CNOT1 HGNC COL8A2 1296 genome.wustl.edu 37 1 36563680 36563680 + Silent SNP C C A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 1 36563680 36563680 C A SNP COL8A2 ENST00000303143 human ensembl 70_37 -1 known silent c.1602 p.G534 0.760 pfam_Collagen pfam_Collagen,pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q - no_errors COL8A2 HGNC CPT1A 1374 genome.wustl.edu 37 11 68579947 68579947 + Missense_Mutation SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 11 68579947 68579947 G A SNP CPT1A ENST00000265641 human ensembl 70_37 -1 known missense c.239 p.S80L 1.000 NULL pfam_Carn_acyl_trans - no_errors CPT1A HGNC CROCCP2 84809 genome.wustl.edu 37 1 16956993 16956993 + RNA SNP A A G TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 1 16956993 16956993 A G SNP CROCCP2 ENST00000362058 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors CROCCP2 HGNC CSF3R 1441 genome.wustl.edu 37 1 36933545 36933545 + Missense_Mutation SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 1 36933545 36933545 G A SNP CSF3R ENST00000373103 human ensembl 70_37 -1 known missense c.1742 p.S581F 0.981 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_IgC2-like_lig-bd,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors CSF3R HGNC CSPP1 79848 genome.wustl.edu 37 8 68026058 68026058 + Silent SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 8 68026058 68026058 C T SNP CSPP1 ENST00000262210 human ensembl 70_37 +1 known silent c.1233 p.L411 0.977 NULL NULL - no_errors CSPP1 HGNC CTBP1-AS2 92070 genome.wustl.edu 37 4 1246210 1246210 + RNA SNP G G C TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 4 1246210 1246210 G C SNP CTBP1-AS1 ENST00000581398 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors CTBP1-AS1 HGNC CUL7 9820 genome.wustl.edu 37 6 43020151 43020151 + Missense_Mutation SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 6 43020151 43020151 C T SNP CUL7 ENST00000535468 human ensembl 70_37 -1 known missense c.532 p.E178K 1.000 superfamily_ARM-type_fold pfam_Cullin_N,pfam_CPH_domain,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL7 HGNC DCAF17 80067 genome.wustl.edu 37 2 172309709 172309709 + Missense_Mutation SNP G G C TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 2 172309709 172309709 G C SNP DCAF17 ENST00000375255 human ensembl 70_37 +1 known missense c.613 p.E205Q 1.000 NULL NULL - no_errors DCAF17 HGNC DDX17 10521 genome.wustl.edu 37 22 38895463 38895463 + Silent SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 22 38895463 38895463 C T SNP DDX17 ENST00000396821 human ensembl 70_37 -1 known silent c.480 p.V160 1.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX17 HGNC DDX39A 10212 genome.wustl.edu 37 19 14520578 14520578 + Silent SNP G G C TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 19 14520578 14520578 G C SNP DDX39A ENST00000242776 human ensembl 70_37 -1 known silent c.840 p.L280 0.420 pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX39A HGNC DDX58 23586 genome.wustl.edu 37 9 32485206 32485206 + Missense_Mutation SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 9 32485206 32485206 C T SNP DDX58 ENST00000379883 human ensembl 70_37 -1 known missense c.1447 p.E483K 0.990 NULL pfam_RIG-I_C-RD,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_DEATH-like,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX58 HGNC DHTKD1 55526 genome.wustl.edu 37 10 12159690 12159690 + Nonsense_Mutation SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 10 12159690 12159690 C T SNP DHTKD1 ENST00000263035 human ensembl 70_37 +1 known nonsense c.2338 p.Q780* 0.996 pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 pfam_Transketolase-like_Pyr-bd,pfam_DH_E1,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 - no_errors DHTKD1 HGNC DLGAP2 9228 genome.wustl.edu 37 8 1616650 1616650 + Missense_Mutation SNP G G C TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 8 1616650 1616650 G C SNP DLGAP2 ENST00000421627 human ensembl 70_37 +1 known missense c.1726 p.D576H 1.000 NULL pfam_GKAP - no_errors DLGAP2 HGNC DMXL2 23312 genome.wustl.edu 37 15 51868299 51868299 + Missense_Mutation SNP C C G TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 15 51868299 51868299 C G SNP DMXL2 ENST00000543779 human ensembl 70_37 -1 known missense c.167 p.G56A 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL2 HGNC DOCK2 1794 genome.wustl.edu 37 5 169186751 169186751 + Missense_Mutation SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 5 169186751 169186751 G A SNP DOCK2 ENST00000256935 human ensembl 70_37 +1 known missense c.2419 p.E807K 1.000 superfamily_ARM-type_fold pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c_dom,superfamily_ARM-type_fold,superfamily_Ferritin/RNR-like,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK2 HGNC DPY19L2 283417 genome.wustl.edu 37 12 64041078 64041078 + Missense_Mutation SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 12 64041078 64041078 G A SNP DPY19L2 ENST00000324472 human ensembl 70_37 -1 known missense c.656 p.T219I 1.000 pfam_Dpy-19 pfam_Dpy-19 - no_errors DPY19L2 HGNC EIF4A3 9775 genome.wustl.edu 37 17 78115141 78115141 + Missense_Mutation SNP C C G TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 17 78115141 78115141 C G SNP EIF4A3 ENST00000269349 human ensembl 70_37 -1 known missense c.349 p.E117Q 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors EIF4A3 HGNC EMC1 23065 genome.wustl.edu 37 1 19550021 19550021 + Missense_Mutation SNP C C A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 1 19550021 19550021 C A SNP EMC1 ENST00000477853 human ensembl 70_37 -1 known missense c.2245 p.D749Y 1.000 NULL pfam_DUF1620,superfamily_Quinonprotein_ADH-like - no_errors EMC1 HGNC ENSG00000214559 0 genome.wustl.edu 37 4 99182769 99182769 + RNA SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 4 99182769 99182769 C T SNP ENSG00000214559 ENST00000356499 human ensembl 70_37 -1 known rna NULL NULL 0.992 - - - no_errors RP11-323J4.1 Clone_based_vega_gene ENSG00000215866 0 genome.wustl.edu 37 1 113392570 113392570 + RNA SNP C C G TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 1 113392570 113392570 C G SNP ENSG00000215866 ENST00000401018 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-426L16.8 Clone_based_vega_gene ENSG00000239466 0 genome.wustl.edu 37 4 85609036 85609036 + RNA SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 4 85609036 85609036 C T SNP ENSG00000239466 ENST00000462094 human ensembl 70_37 -1 novel rna NULL NULL 0.005 - - - no_errors Metazoa_SRP RFAM ENSG00000248015 0 genome.wustl.edu 37 19 1393525 1393525 + RNA SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 19 1393525 1393525 C T SNP ENSG00000248015 ENST00000501448 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AC005329.7 Clone_based_vega_gene ENSG00000265798 0 genome.wustl.edu 37 17 29374613 29374613 + RNA SNP G G T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 17 29374613 29374613 G T SNP ENSG00000265798 ENST00000583112 human ensembl 70_37 -1 known rna NULL NULL 0.011 - - - no_errors RP11-271K11.5 Clone_based_vega_gene ENSG00000266993 0 genome.wustl.edu 37 1 52263779 52263779 + RNA SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 1 52263779 52263779 C T SNP ENSG00000266993 ENST00000586761 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP4-657D16.3 Clone_based_vega_gene ERCC8 1161 genome.wustl.edu 37 5 60195471 60195471 + Missense_Mutation SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 5 60195471 60195471 G A SNP ERCC8 ENST00000265038 human ensembl 70_37 -1 known missense c.701 p.S234L 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors ERCC8 HGNC ERVV-1 147664 genome.wustl.edu 37 19 53517474 53517474 + Missense_Mutation SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 19 53517474 53517474 G A SNP ERVV-1 ENST00000602168 human ensembl 70_37 +1 known missense c.131 p.C44Y 0.018 NULL pfam_TLV/ENV_coat_polyprotein - no_errors ERVV-1 HGNC ETF1 2107 genome.wustl.edu 37 5 137846286 137846286 + Missense_Mutation SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 5 137846286 137846286 C T SNP ETF1 ENST00000360541 human ensembl 70_37 -1 known missense c.1051 p.E351K 1.000 pfam_eRF1_3,tigrfam_Peptide_chain-rel_eRF1/aRF1 pfam_eRF1_2,pfam_eRF1_3,pfam_eRF1_1_Pelota,superfamily_Release_factor_eRF1/aRF1_N,tigrfam_Peptide_chain-rel_eRF1/aRF1 - no_errors ETF1 HGNC F5 2153 genome.wustl.edu 37 1 169509926 169509926 + Missense_Mutation SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 1 169509926 169509926 C T SNP F5 ENST00000367796 human ensembl 70_37 -1 known missense c.4417 p.E1473K 0.525 NULL pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors F5 HGNC FAM193A 8603 genome.wustl.edu 37 4 2701482 2701482 + Missense_Mutation SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 4 2701482 2701482 C T SNP FAM193A ENST00000324666 human ensembl 70_37 +1 known missense c.2710 p.R904W 1.000 NULL NULL - no_errors FAM193A HGNC FAT4 79633 genome.wustl.edu 37 4 126241227 126241227 + Missense_Mutation SNP G G C TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 4 126241227 126241227 G C SNP FAT4 ENST00000394329 human ensembl 70_37 +1 known missense c.3661 p.E1221Q 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC FBXW7 55294 genome.wustl.edu 37 4 153247280 153247280 + Nonsense_Mutation SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 4 153247280 153247280 G A SNP FBXW7 ENST00000281708 human ensembl 70_37 -1 known nonsense c.1522 p.Q508* 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW7 HGNC FCN1 2219 genome.wustl.edu 37 9 137801746 137801746 + Silent SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 9 137801746 137801746 G A SNP FCN1 ENST00000371806 human ensembl 70_37 -1 known silent c.879 p.L293 0.200 pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C pfam_Fibrinogen_a/b/g_C,pfam_Collagen,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C - no_errors FCN1 HGNC FGA 2243 genome.wustl.edu 37 4 155506809 155506809 + Missense_Mutation SNP C C G TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 4 155506809 155506809 C G SNP FGA ENST00000302053 human ensembl 70_37 -1 known missense c.1772 p.R591T 0.015 NULL pfam_Fibrinogen_a/b/g_C,pfam_Fibrinogen_a/b/g_coil_dom,pfam_Fibrinogen_aC,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C - no_errors FGA HGNC FGFR4 2264 genome.wustl.edu 37 5 176523330 176523330 + Missense_Mutation SNP G G C TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 5 176523330 176523330 G C SNP FGFR4 ENST00000292408 human ensembl 70_37 +1 known missense c.1987 p.D663H 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_fibroblast_GF_rcpt,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_fibroblast_GF_rcpt,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors FGFR4 HGNC FKBP7 51661 genome.wustl.edu 37 2 179330622 179330622 + Missense_Mutation SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 2 179330622 179330622 C T SNP FKBP7 ENST00000424785 human ensembl 70_37 -1 known missense c.544 p.E182K 1.000 NULL pfam_PPIase_FKBP_dom,pfscan_EF_HAND_2,pfscan_PPIase_FKBP_dom - no_errors FKBP7 HGNC FREM3 166752 genome.wustl.edu 37 4 144619231 144619231 + Silent SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 4 144619231 144619231 G A SNP FREM3 ENST00000329798 human ensembl 70_37 -1 putative silent c.2598 p.F866 0.998 NULL pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM3 HGNC FRMD4A 55691 genome.wustl.edu 37 10 13782229 13782229 + Missense_Mutation SNP G G C TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 10 13782229 13782229 G C SNP FRMD4A ENST00000357447 human ensembl 70_37 -1 known missense c.637 p.L213V 1.000 pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam pfam_DUF3338,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam - no_errors FRMD4A HGNC GHSR 2693 genome.wustl.edu 37 3 172165471 172165471 + Missense_Mutation SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 3 172165471 172165471 C T SNP GHSR ENST00000241256 human ensembl 70_37 -1 known missense c.733 p.G245S 0.988 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GHS1_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GHS1_rcpt,prints_GPCR_Rhodpsn - no_errors GHSR HGNC GLB1 2720 genome.wustl.edu 37 3 33055739 33055739 + Missense_Mutation SNP C C G TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 3 33055739 33055739 C G SNP GLB1 ENST00000445488 human ensembl 70_37 -1 known missense c.1687 p.D563H 0.957 superfamily_Galactose-bd-like pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,prints_Glycoside_Hdrlase_35 - no_errors GLB1 HGNC GLB1 2720 genome.wustl.edu 37 3 33055755 33055755 + Nonsense_Mutation SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 3 33055755 33055755 C T SNP GLB1 ENST00000445488 human ensembl 70_37 -1 known nonsense c.1671 p.W557* 1.000 superfamily_Galactose-bd-like pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,prints_Glycoside_Hdrlase_35 - no_errors GLB1 HGNC GLRA2 2742 genome.wustl.edu 37 X 14550433 14550433 + Silent SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 X 14550433 14550433 C T SNP GLRA2 ENST00000218075 human ensembl 70_37 +1 known silent c.141 p.F47 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Glycine_rcpt_A,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_Glycine_rcpt_A,prints_Glycine_rcpt_A2,prints_Neur_channel,tigrfam_Neur_channel - no_errors GLRA2 HGNC GLS2 27165 genome.wustl.edu 37 12 56872898 56872898 + Missense_Mutation SNP C C G TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 12 56872898 56872898 C G SNP GLS2 ENST00000311966 human ensembl 70_37 -1 known missense c.472 p.E158Q 1.000 superfamily_Beta-lactam/transpept-like pfam_Glutaminase,pfam_Ankyrin_rpt,superfamily_Beta-lactam/transpept-like,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_Glutaminase - no_errors GLS2 HGNC GNPTG 84572 genome.wustl.edu 37 16 1412296 1412296 + Silent SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 16 1412296 1412296 C T SNP GNPTG ENST00000204679 human ensembl 70_37 +1 known silent c.501 p.L167 0.179 superfamily_Man6P_isomerase_rcpt-bd_dom pfam_PRKCSH,superfamily_Man6P_isomerase_rcpt-bd_dom - no_errors GNPTG HGNC GRIN1 2902 genome.wustl.edu 37 9 140051346 140051346 + Silent SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 9 140051346 140051346 G A SNP GRIN1 ENST00000371561 human ensembl 70_37 +1 known silent c.825 p.K275 1.000 pfam_ANF_lig-bd_rcpt pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_CaM-bd_C0_NMDA_rcpt_NR1,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN1 HGNC H2BFWT 158983 genome.wustl.edu 37 X 103267770 103267770 + Missense_Mutation SNP C C G TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 X 103267770 103267770 C G SNP H2BFWT ENST00000217926 human ensembl 70_37 -1 known missense c.463 p.E155Q 0.996 superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors H2BFWT HGNC HECW1 23072 genome.wustl.edu 37 7 43484020 43484020 + Nonsense_Mutation SNP G G T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 7 43484020 43484020 G T SNP HECW1 ENST00000395891 human ensembl 70_37 +1 known nonsense c.1249 p.E417* 1.000 NULL pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,superfamily_HECT,superfamily_WW_Rsp5_WWP,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP - no_errors HECW1 HGNC HEPACAM2 253012 genome.wustl.edu 37 7 92848495 92848495 + Nonsense_Mutation SNP C C A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 7 92848495 92848495 C A SNP HEPACAM2 ENST00000394468 human ensembl 70_37 -1 known nonsense c.349 p.E117* 1.000 pfam_Ig_V-set,smart_Ig_sub pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors HEPACAM2 HGNC HIST1H2BC 8347 genome.wustl.edu 37 6 26124126 26124126 + Missense_Mutation SNP C C G TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 6 26124126 26124126 C G SNP HIST1H2BC ENST00000314332 human ensembl 70_37 -1 known missense c.7 p.E3Q 1.000 NULL pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST1H2BC HGNC IFNGR1 3459 genome.wustl.edu 37 6 137527314 137527314 + Missense_Mutation SNP G G C TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 6 137527314 137527314 G C SNP IFNGR1 ENST00000367739 human ensembl 70_37 -1 known missense c.332 p.S111C 0.985 superfamily_Fibronectin_type3,prints_Interferon_gamma_rcpt_asu pfam_Interferon_gamma_pox/mammal,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,prints_Interferon_gamma_rcpt_asu - no_errors IFNGR1 HGNC IGHMBP2 3508 genome.wustl.edu 37 11 68702826 68702826 + Silent SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 11 68702826 68702826 C T SNP IGHMBP2 ENST00000255078 human ensembl 70_37 +1 known silent c.1692 p.V564 0.098 tigrfam_DNA_helicase_put pfam_R3H_ss-bd,pfam_Znf_AN1,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_AAA+_ATPase,smart_R3H_ss-bd,smart_Znf_AN1,pfscan_Znf_AN1,pfscan_R3H_ss-bd,tigrfam_DNA_helicase_put - no_errors IGHMBP2 HGNC IL25 64806 genome.wustl.edu 37 14 23844858 23844858 + Silent SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 14 23844858 23844858 C T SNP IL25 ENST00000329715 human ensembl 70_37 +1 known silent c.303 p.L101 0.994 pfam_Interleukin-17 pfam_Interleukin-17 - no_errors IL25 HGNC IL3RA 3563 genome.wustl.edu 37 X 1471018 1471018 + Silent SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 X 1471018 1471018 G A SNP IL3RA ENST00000331035 human ensembl 70_37 +1 known silent c.324 p.E108 0.000 pfam_IL6_recept-bd,superfamily_Fibronectin_type3 pfam_IL6_recept-bd,superfamily_Fibronectin_type3 - no_errors IL3RA HGNC IMPDH1 3614 genome.wustl.edu 37 7 128043784 128043784 + Missense_Mutation SNP G G C TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 7 128043784 128043784 G C SNP IMPDH1 ENST00000338791 human ensembl 70_37 -1 known missense c.378 p.F126L 1.000 pfam_IMP_DH_GMPRt,tigrfam_IMP_DH pfam_IMP_DH_GMPRt,pfam_Cysta_beta_synth_core,pfam_2Npropane_dOase,pfam_FMN-dep_DH,smart_Cysta_beta_synth_core,tigrfam_IMP_DH - no_errors IMPDH1 HGNC IPO13 9670 genome.wustl.edu 37 1 44433134 44433134 + Missense_Mutation SNP G G C TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 1 44433134 44433134 G C SNP IPO13 ENST00000372343 human ensembl 70_37 +1 known missense c.2761 p.E921Q 1.000 NULL pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors IPO13 HGNC IQCB1 9657 genome.wustl.edu 37 3 121547406 121547406 + Silent SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 3 121547406 121547406 G A SNP IQCB1 ENST00000310864 human ensembl 70_37 -1 known silent c.174 p.L58 1.000 NULL pfam_IQ_motif_EF-hand-BS,superfamily_ARM-type_fold,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors IQCB1 HGNC IRF5 3663 genome.wustl.edu 37 7 128587362 128587362 + Missense_Mutation SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 7 128587362 128587362 C T SNP IRF5 ENST00000357234 human ensembl 70_37 +1 known missense c.560 p.P187L 0.317 NULL pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF5 HGNC JUNB 3726 genome.wustl.edu 37 19 12903628 12903628 + Nonstop_Mutation SNP G G C TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 19 12903628 12903628 G C SNP JUNB ENST00000302754 human ensembl 70_37 +1 known nonstop c.1043 p.*348S 1.000 NULL pfam_JNK,pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Jun - no_errors JUNB HGNC KCNE1L 23630 genome.wustl.edu 37 X 108867844 108867844 + Missense_Mutation SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 X 108867844 108867844 C T SNP KCNE1L ENST00000372101 human ensembl 70_37 -1 known missense c.406 p.A136T 0.000 NULL NULL - no_errors KCNE1L HGNC KCNMA1 3778 genome.wustl.edu 37 10 78850175 78850175 + Missense_Mutation SNP C C G TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 10 78850175 78850175 C G SNP KCNMA1 ENST00000406533 human ensembl 70_37 -1 known missense c.1317 p.E439D 1.000 prints_K_chnl_Ca-activ_BK_asu pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_dom,pfam_Ion_trans_2,pfam_RCK_N,prints_K_chnl_Ca-activ_BK_asu,prints_K_chnl - no_errors KCNMA1 HGNC KCNT2 343450 genome.wustl.edu 37 1 196309572 196309572 + Missense_Mutation SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 1 196309572 196309572 G A SNP KCNT2 ENST00000294725 human ensembl 70_37 -1 known missense c.1682 p.S561L 1.000 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_2 - no_errors KCNT2 HGNC KDELR1 10945 genome.wustl.edu 37 19 48894602 48894602 + Missense_Mutation SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 19 48894602 48894602 C T SNP KDELR1 ENST00000330720 human ensembl 70_37 -1 known missense c.14 p.R5Q 1.000 prints_ER_ret_rcpt pfam_ER_ret_rcpt,prints_ER_ret_rcpt - no_errors KDELR1 HGNC KIAA1407 57577 genome.wustl.edu 37 3 113724628 113724628 + Missense_Mutation SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 3 113724628 113724628 C T SNP KIAA1407 ENST00000295878 human ensembl 70_37 -1 known missense c.1595 p.G532D 0.000 NULL NULL - no_errors KIAA1407 HGNC KIAA2026 158358 genome.wustl.edu 37 9 6007613 6007613 + Missense_Mutation SNP C C G TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 9 6007613 6007613 C G SNP KIAA2026 ENST00000399933 human ensembl 70_37 -1 novel missense c.175 p.E59Q 0.004 NULL superfamily_Bromodomain - no_errors KIAA2026 HGNC KLHDC7B 113730 genome.wustl.edu 37 22 50988006 50988006 + Missense_Mutation SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 22 50988006 50988006 G A SNP KLHDC7B ENST00000395676 human ensembl 70_37 +1 known missense c.1411 p.D471N 0.997 smart_Kelch_1 pfam_Kelch_1,smart_Kelch_1 - no_errors KLHDC7B HGNC KLHDC7B 113730 genome.wustl.edu 37 22 50988318 50988318 + Missense_Mutation SNP G G T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 22 50988318 50988318 G T SNP KLHDC7B ENST00000395676 human ensembl 70_37 +1 known missense c.1723 p.G575W 0.975 NULL pfam_Kelch_1,smart_Kelch_1 - no_errors KLHDC7B HGNC KLHDC7B 113730 genome.wustl.edu 37 22 50988354 50988354 + Missense_Mutation SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 22 50988354 50988354 G A SNP KLHDC7B ENST00000395676 human ensembl 70_37 +1 known missense c.1759 p.E587K 0.000 NULL pfam_Kelch_1,smart_Kelch_1 - no_errors KLHDC7B HGNC KRT1 3848 genome.wustl.edu 37 12 53072416 53072416 + Missense_Mutation SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 12 53072416 53072416 C T SNP KRT1 ENST00000252244 human ensembl 70_37 -1 known missense c.716 p.R239Q 0.930 pfam_F pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT1 HGNC LIAS 11019 genome.wustl.edu 37 4 39465151 39465151 + Missense_Mutation SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 4 39465151 39465151 G A SNP LIAS ENST00000261434 human ensembl 70_37 +1 known missense c.319 p.E107K 1.000 pirsf_Lipoyl_synth,tigrfam_Lipoyl_synth pfam_rSAM,smart_Elp3/MiaB/NifB,pirsf_Lipoyl_synth,tigrfam_Lipoyl_synth - no_errors LIAS HGNC LINGO1 84894 genome.wustl.edu 37 15 77907603 77907603 + Missense_Mutation SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 15 77907603 77907603 C T SNP LINGO1 ENST00000355300 human ensembl 70_37 -1 known missense c.646 p.G216S 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_Ig_I-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LINGO1 HGNC LINGO3 645191 genome.wustl.edu 37 19 2290031 2290031 + Missense_Mutation SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 19 2290031 2290031 C T SNP LINGO3 ENST00000585527 human ensembl 70_37 -1 known missense c.1910 p.G637E 1.000 NULL pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LINGO3 HGNC LMO7 4008 genome.wustl.edu 37 13 76395705 76395705 + Missense_Mutation SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 13 76395705 76395705 C T SNP LMO7 ENST00000357063 human ensembl 70_37 +1 known missense c.2756 p.S919F 0.988 NULL pfam_CH-domain,pfam_PDZ,superfamily_CH-domain,superfamily_PDZ,smart_CH-domain,smart_PDZ,pfscan_CH-domain,pfscan_PDZ,prints_SM22_calponin - no_errors LMO7 HGNC LOC100507199 100507199 genome.wustl.edu 37 X 151080888 151080888 + RNA SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 X 151080888 151080888 G A SNP LOC100507199 ENST00000424126 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-366F6.2 Clone_based_vega_gene LOC101060615 101060615 genome.wustl.edu 37 22 16157762 16157762 + Silent SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 22 16157762 16157762 C T SNP LOC101060615 ENST00000383146 human ensembl 70_37 -1 known silent c.177 p.P59 0.154 NULL NULL - no_errors AP000525.1 Clone_based_ensembl_gene LOC440993 440993 genome.wustl.edu 37 3 195393269 195393269 + RNA SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 3 195393269 195393269 C T SNP LOC440993 ENST00000457233 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors AC069513.3 Clone_based_vega_gene LPPR4 9890 genome.wustl.edu 37 1 99771315 99771315 + Silent SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 1 99771315 99771315 G A SNP LPPR4 ENST00000370185 human ensembl 70_37 +1 known silent c.1041 p.L347 1.000 NULL pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors LPPR4 Uniprot_genename LRRC16A 55604 genome.wustl.edu 37 6 25606388 25606388 + Missense_Mutation SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 6 25606388 25606388 C T SNP LRRC16A ENST00000329474 human ensembl 70_37 +1 novel missense c.3734 p.S1245F 0.697 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC16A HGNC LRRC3 81543 genome.wustl.edu 37 21 45876948 45876948 + Missense_Mutation SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 21 45876948 45876948 C T SNP LRRC3 ENST00000291592 human ensembl 70_37 +1 known missense c.421 p.R141C 1.000 NULL pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC3 HGNC LRRC66 339977 genome.wustl.edu 37 4 52861239 52861239 + Missense_Mutation SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 4 52861239 52861239 G A SNP LRRC66 ENST00000343457 human ensembl 70_37 -1 known missense c.1949 p.S650L 0.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC66 HGNC LYN 4067 genome.wustl.edu 37 8 56910991 56910991 + Silent SNP C C G TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 8 56910991 56910991 C G SNP LYN ENST00000519728 human ensembl 70_37 +1 known silent c.1137 p.L379 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain - no_errors LYN HGNC MACF1 23499 genome.wustl.edu 37 1 39801471 39801471 + Missense_Mutation SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 1 39801471 39801471 G A SNP MACF1 ENST00000567887 human ensembl 70_37 +1 putative missense c.9322 p.E3108K 0.125 superfamily_RNaseH-like_dom pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_RNaseH-like_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors MACF1 HGNC MAFF 23764 genome.wustl.edu 37 22 38610546 38610546 + Silent SNP C C G TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 22 38610546 38610546 C G SNP MAFF ENST00000338483 human ensembl 70_37 +1 known silent c.156 p.L52 1.000 pfam_bZIP_Maf,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP pfam_bZIP_Maf,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors MAFF HGNC MAGEA11 4110 genome.wustl.edu 37 X 148794829 148794829 + Nonsense_Mutation SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 X 148794829 148794829 C T SNP MAGEA11 ENST00000355220 human ensembl 70_37 +1 known nonsense c.10 p.Q4* 0.000 NULL pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEA11 HGNC MAP7D2 256714 genome.wustl.edu 37 X 20074858 20074858 + Missense_Mutation SNP C C G TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 X 20074858 20074858 C G SNP MAP7D2 ENST00000379643 human ensembl 70_37 -1 known missense c.424 p.E142Q 1.000 NULL pfam_E-MAP-115 - no_errors MAP7D2 HGNC MAP7D3 79649 genome.wustl.edu 37 X 135328486 135328486 + Missense_Mutation SNP C C G TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 X 135328486 135328486 C G SNP MAP7D3 ENST00000370663 human ensembl 70_37 -1 known missense c.31 p.E11Q 0.013 NULL pfam_E-MAP-115 - no_errors MAP7D3 HGNC MAPK6 5597 genome.wustl.edu 37 15 52356856 52356856 + Nonsense_Mutation SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 15 52356856 52356856 C T SNP MAPK6 ENST00000261845 human ensembl 70_37 +1 known nonsense c.1825 p.Q609* 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_MAPK_ERK3/4,pfscan_Prot_kinase_cat_dom - no_errors MAPK6 HGNC MASP1 5648 genome.wustl.edu 37 3 186944295 186944295 + Silent SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 3 186944295 186944295 G A SNP MASP1 ENST00000337774 human ensembl 70_37 -1 known silent c.1455 p.I485 0.659 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A pfam_Peptidase_S1_S6,pfam_CUB,pfam_Sushi_SCR_CCP,pfam_EGF-like_Ca-bd,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_EGF-like_Ca-bd,smart_Sushi_SCR_CCP,smart_Peptidase_S1_S6,pfscan_CUB,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors MASP1 HGNC MED24 9862 genome.wustl.edu 37 17 38176820 38176820 + RNA SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 17 38176820 38176820 C T SNP MED24 ENST00000470126 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors MED24 HGNC MOB3C 148932 genome.wustl.edu 37 1 47078756 47078756 + Missense_Mutation SNP C C G TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 1 47078756 47078756 C G SNP MOB3C ENST00000271139 human ensembl 70_37 -1 known missense c.394 p.E132Q 1.000 pfam_Mob1_phocein,superfamily_Mob1_phocein pfam_Mob1_phocein,superfamily_Mob1_phocein - no_errors MOB3C HGNC MORC2-AS1 150291 genome.wustl.edu 37 22 31318350 31318350 + RNA SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 22 31318350 31318350 G A SNP MORC2-AS1 ENST00000422995 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors MORC2-AS1 HGNC MORC2-AS1 150291 genome.wustl.edu 37 22 31318401 31318401 + RNA SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 22 31318401 31318401 G A SNP MORC2-AS1 ENST00000422995 human ensembl 70_37 +1 known rna NULL NULL 0.004 - - - no_errors MORC2-AS1 HGNC MTUS2 23281 genome.wustl.edu 37 13 30054349 30054349 + Missense_Mutation SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 13 30054349 30054349 G A SNP MTUS2 ENST00000431530 human ensembl 70_37 +1 known missense c.3277 p.E1093K 0.994 NULL NULL - no_errors MTUS2 HGNC MUC16 94025 genome.wustl.edu 37 19 9060012 9060012 + Missense_Mutation SNP G G C TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 19 9060012 9060012 G C SNP MUC16 ENST00000397910 human ensembl 70_37 -1 known missense c.27434 p.S9145C 0.001 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC MUC16 94025 genome.wustl.edu 37 19 9071029 9071029 + Missense_Mutation SNP G G C TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 19 9071029 9071029 G C SNP MUC16 ENST00000397910 human ensembl 70_37 -1 known missense c.16417 p.Q5473E 0.000 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC MYH13 8735 genome.wustl.edu 37 17 10209931 10209931 + Missense_Mutation SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 17 10209931 10209931 C T SNP MYH13 ENST00000252172 human ensembl 70_37 -1 known missense c.5311 p.E1771K 0.998 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH13 HGNC MYH2 4620 genome.wustl.edu 37 17 10432195 10432195 + Missense_Mutation SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 17 10432195 10432195 C T SNP MYH2 ENST00000245503 human ensembl 70_37 -1 known missense c.3556 p.E1186K 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH2 HGNC NKIRAS2 28511 genome.wustl.edu 37 17 40173651 40173651 + Missense_Mutation SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 17 40173651 40173651 C T SNP NKIRAS2 ENST00000307641 human ensembl 70_37 +1 known missense c.56 p.S19L 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors NKIRAS2 HGNC NMT2 9397 genome.wustl.edu 37 10 15151821 15151821 + Missense_Mutation SNP G G C TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 10 15151821 15151821 G C SNP NMT2 ENST00000378143 human ensembl 70_37 -1 known missense c.1449 p.F483L 1.000 pfam_MyristoylCoA_TrFase_C,superfamily_Acyl_CoA_acyltransferase,pirsf_MyristoylCoA_TrFase pfam_MyristoylCoA_TrFase_C,pfam_MyristoylCoA_TrFase_N,superfamily_Acyl_CoA_acyltransferase,pirsf_MyristoylCoA_TrFase - no_errors NMT2 HGNC NMT2 9397 genome.wustl.edu 37 10 15161425 15161425 + Missense_Mutation SNP G G T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 10 15161425 15161425 G T SNP NMT2 ENST00000378143 human ensembl 70_37 -1 known missense c.1180 p.H394N 1.000 pfam_MyristoylCoA_TrFase_C,superfamily_Acyl_CoA_acyltransferase,pirsf_MyristoylCoA_TrFase pfam_MyristoylCoA_TrFase_C,pfam_MyristoylCoA_TrFase_N,superfamily_Acyl_CoA_acyltransferase,pirsf_MyristoylCoA_TrFase - no_errors NMT2 HGNC NOTCH2 4853 genome.wustl.edu 37 1 120497829 120497829 + Missense_Mutation SNP C C G TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 1 120497829 120497829 C G SNP NOTCH2 ENST00000256646 human ensembl 70_37 -1 known missense c.2053 p.E685Q 1.000 pirsf_Notch,pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,pfam_EGF_extracell,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_2,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH2 HGNC NPIPB7 440350 genome.wustl.edu 37 16 28468131 28468131 + Missense_Mutation SNP G G C TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 16 28468131 28468131 G C SNP NPIPL1 ENST00000452313 human ensembl 70_37 -1 novel missense c.859 p.L287V 0.060 pfam_NPIP pfam_NPIP - no_errors NPIPL1 HGNC NR0B1 190 genome.wustl.edu 37 X 30327072 30327072 + Missense_Mutation SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 X 30327072 30327072 C T SNP NR0B1 ENST00000378970 human ensembl 70_37 -1 known missense c.409 p.E137K 0.850 NULL pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt - no_errors NR0B1 HGNC NUDT22 84304 genome.wustl.edu 37 11 63995093 63995093 + Silent SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 11 63995093 63995093 G A SNP NUDT22 ENST00000279206 human ensembl 70_37 +1 known silent c.534 p.V178 0.851 NULL superfamily_NUDIX_hydrolase_dom-like - no_errors NUDT22 HGNC NUP188 23511 genome.wustl.edu 37 9 131764003 131764003 + Nonsense_Mutation SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 9 131764003 131764003 C T SNP NUP188 ENST00000372577 human ensembl 70_37 +1 known nonsense c.4039 p.Q1347* 1.000 NULL pfam_Nucleoporin_Nup188,superfamily_ARM-type_fold - no_errors NUP188 HGNC OPALIN 93377 genome.wustl.edu 37 10 98105853 98105853 + Missense_Mutation SNP G G C TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 10 98105853 98105853 G C SNP OPALIN ENST00000371172 human ensembl 70_37 -1 known missense c.271 p.H91D 0.001 NULL NULL - no_errors OPALIN HGNC OR1D5 8386 genome.wustl.edu 37 17 2966880 2966880 + Missense_Mutation SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 17 2966880 2966880 C T SNP OR1D5 ENST00000575751 human ensembl 70_37 -1 known missense c.22 p.E8K 0.955 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1D5 HGNC OR8K1 390157 genome.wustl.edu 37 11 56114370 56114370 + Missense_Mutation SNP C C A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 11 56114370 56114370 C A SNP OR8K1 ENST00000279783 human ensembl 70_37 +1 known missense c.856 p.L286M 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8K1 HGNC PACSIN3 29763 genome.wustl.edu 37 11 47200581 47200581 + Missense_Mutation SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 11 47200581 47200581 C T SNP PACSIN3 ENST00000298838 human ensembl 70_37 -1 known missense c.901 p.E301K 1.000 NULL pfam_FCH,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_FCH,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain,prints_SH3_domain - no_errors PACSIN3 HGNC PCDHB5 26167 genome.wustl.edu 37 5 140517210 140517210 + Missense_Mutation SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 5 140517210 140517210 C T SNP PCDHB5 ENST00000231134 human ensembl 70_37 +1 known missense c.2194 p.P732S 0.052 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB5 HGNC PCDHGA2 56113 genome.wustl.edu 37 5 140719613 140719613 + Missense_Mutation SNP G G C TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 5 140719613 140719613 G C SNP PCDHGA2 ENST00000394576 human ensembl 70_37 +1 known missense c.1075 p.D359H 0.997 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHGA2 HGNC PCMTD1 115294 genome.wustl.edu 37 8 52732893 52732894 + RNA INS - - C TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 8 52732893 52732894 - C INS PCMTD1 ENST00000519559 human ensembl 70_37 -1 known rna NULL NULL 0.206:0.021 - - - no_errors PCMTD1 HGNC PDE4DIP 9659 genome.wustl.edu 37 1 144931290 144931290 + Missense_Mutation SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 1 144931290 144931290 C T SNP PDE4DIP ENST00000313431 human ensembl 70_37 -1 known missense c.419 p.C140Y 1.000 NULL superfamily_ARM-type_fold - no_errors PDE4DIP HGNC PDE7B 27115 genome.wustl.edu 37 6 136476786 136476786 + Missense_Mutation SNP C C G TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 6 136476786 136476786 C G SNP PDE7B ENST00000308191 human ensembl 70_37 +1 known missense c.601 p.L201V 0.998 pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE7B HGNC PHKA2 5256 genome.wustl.edu 37 X 18919625 18919625 + Missense_Mutation SNP C C G TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 X 18919625 18919625 C G SNP PHKA2 ENST00000379942 human ensembl 70_37 -1 known missense c.3005 p.R1002T 0.794 NULL pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like - no_errors PHKA2 HGNC PIK3CA 5290 genome.wustl.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 3 178936091 178936091 G A SNP PIK3CA ENST00000263967 human ensembl 70_37 +1 known missense c.1633 p.E545K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC PIK3R3 8503 genome.wustl.edu 37 1 46509304 46509304 + RNA SNP G G C TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 1 46509304 46509304 G C SNP PIK3R3 ENST00000488808 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors PIK3R3 HGNC PLRG1 5356 genome.wustl.edu 37 4 155470015 155470015 + Missense_Mutation SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 4 155470015 155470015 C T SNP PLRG1 ENST00000393905 human ensembl 70_37 -1 known missense c.82 p.D28N 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors PLRG1 HGNC PMEL 6490 genome.wustl.edu 37 12 56352293 56352293 + Nonsense_Mutation SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 12 56352293 56352293 G A SNP PMEL ENST00000360714 human ensembl 70_37 -1 known nonsense c.433 p.Q145* 0.994 NULL pfam_PKD_dom,superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_PKD_dom - no_errors PMEL HGNC PNKP 11284 genome.wustl.edu 37 19 50368512 50368512 + Silent SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 19 50368512 50368512 G A SNP PNKP ENST00000322344 human ensembl 70_37 -1 known silent c.370 p.L124 0.158 tigrfam_PNK_3Pase_met pfam_PNK3P,superfamily_HAD-like_dom,superfamily_SMAD_FHA_domain,tigrfam_PNK_3Pase_met,tigrfam_Polynucleotide_phosphatase,tigrfam_HAD-SF_hydro_IIIA - no_errors PNKP HGNC POC1B 282809 genome.wustl.edu 37 12 89860565 89860565 + Missense_Mutation SNP T T C TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 12 89860565 89860565 T C SNP POC1B ENST00000378528 human ensembl 70_37 -1 known missense c.374 p.K125R 0.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors POC1B HGNC POLE 5426 genome.wustl.edu 37 12 133240966 133240966 + Missense_Mutation SNP C C G TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 12 133240966 133240966 C G SNP POLE ENST00000455752 human ensembl 70_37 -1 known missense c.2584 p.E862Q 1.000 pfam_DNA-dir_DNA_pol_B_multi_dom,smart_DNA-dir_DNA_pol_B pfam_DNA_pol_e_suA_C,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_3'-5'_exonuclease_PolB-like,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B - no_errors POLE HGNC PPIL3 53938 genome.wustl.edu 37 2 201736079 201736079 + RNA SNP C C G TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 2 201736079 201736079 C G SNP PPIL3 ENST00000465823 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors PPIL3 HGNC PPL 5493 genome.wustl.edu 37 16 4937187 4937187 + Missense_Mutation SNP G G C TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 16 4937187 4937187 G C SNP PPL ENST00000345988 human ensembl 70_37 -1 known missense c.2556 p.I852M 1.000 smart_Spectrin/alpha-actinin pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors PPL HGNC PPM1K 152926 genome.wustl.edu 37 4 89192227 89192227 + Missense_Mutation SNP G G T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 4 89192227 89192227 G T SNP PPM1K ENST00000315194 human ensembl 70_37 -1 known missense c.656 p.S219Y 1.000 NULL pfam_PP2C-like,superfamily_PP2C-like - no_errors PPM1K HGNC PPP1R32 220004 genome.wustl.edu 37 11 61257393 61257393 + Missense_Mutation SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 11 61257393 61257393 C T SNP PPP1R32 ENST00000338608 human ensembl 70_37 +1 known missense c.1183 p.R395W 0.003 NULL NULL - no_errors PPP1R32 HGNC PPP2R5E 5529 genome.wustl.edu 37 14 63848852 63848852 + Missense_Mutation SNP T T C TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 14 63848852 63848852 T C SNP PPP2R5E ENST00000337537 human ensembl 70_37 -1 known missense c.1226 p.N409S 1.000 pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56 pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56 - no_errors PPP2R5E HGNC PRIM2 5558 genome.wustl.edu 37 6 57512788 57512789 + RNA INS - - TA TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 6 57512788 57512789 - TA INS PRIM2 ENST00000389488 human ensembl 70_37 +1 known rna NULL NULL 0.034:0.053 - - - no_errors PRIM2 HGNC PSD 5662 genome.wustl.edu 37 10 104180693 104180693 + RNA SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 10 104180693 104180693 G A SNP PSD ENST00000492902 human ensembl 70_37 -1 known rna NULL NULL 0.370 - - - no_errors PSD HGNC PSMB11 122706 genome.wustl.edu 37 14 23511492 23511492 + Missense_Mutation SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 14 23511492 23511492 C T SNP PSMB11 ENST00000408907 human ensembl 70_37 +1 known missense c.58 p.H20Y 0.639 NULL pfam_Proteasome_sua/b,prints_Pept_T1A_subB - no_errors PSMB11 HGNC PTPRF 5792 genome.wustl.edu 37 1 44063670 44063670 + Missense_Mutation SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 1 44063670 44063670 G A SNP PTPRF ENST00000359947 human ensembl 70_37 +1 known missense c.2065 p.D689N 0.998 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRF HGNC RAB40C 57799 genome.wustl.edu 37 16 675917 675917 + Missense_Mutation SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 16 675917 675917 C T SNP RAB40C ENST00000248139 human ensembl 70_37 +1 known missense c.361 p.R121W 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_SOCS_C,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,smart_SOCS_C,pfscan_SOCS_C,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB40C HGNC RFX2 5990 genome.wustl.edu 37 19 6042128 6042128 + Missense_Mutation SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 19 6042128 6042128 G A SNP RFX2 ENST00000303657 human ensembl 70_37 -1 known missense c.187 p.P63S 0.993 pfam_RFX1_trans_act pfam_RFX1_trans_act,pfam_DNA-bd_RFX - no_errors RFX2 HGNC RNF217 154214 genome.wustl.edu 37 6 125379248 125379248 + Missense_Mutation SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 6 125379248 125379248 G A SNP RNF217 ENST00000560949 human ensembl 70_37 +1 known missense c.572 p.C191Y 1.000 pfam_Znf_C6HC,smart_Znf_C6HC pfam_Znf_C6HC,smart_Znf_C6HC - no_errors RNF217 HGNC RNPC3 55599 genome.wustl.edu 37 1 104068792 104068792 + Silent SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 1 104068792 104068792 C T SNP RNPC3 ENST00000423855 human ensembl 70_37 +1 known silent c.100 p.L34 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RNPC3 HGNC RPAIN 84268 genome.wustl.edu 37 17 5324784 5324784 + Nonsense_Mutation SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 17 5324784 5324784 C T SNP RPAIN ENST00000405578 human ensembl 70_37 +1 known nonsense c.250 p.Q84* 0.998 NULL NULL - no_errors RPAIN HGNC RPN1 6184 genome.wustl.edu 37 3 128363805 128363805 + Missense_Mutation SNP C C G TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 3 128363805 128363805 C G SNP RPN1 ENST00000296255 human ensembl 70_37 -1 known missense c.283 p.E95Q 1.000 pfam_Ribophorin_I pfam_Ribophorin_I - no_errors RPN1 HGNC RRS1 23212 genome.wustl.edu 37 8 67342188 67342188 + Silent SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 8 67342188 67342188 C T SNP RRS1 ENST00000320270 human ensembl 70_37 +1 known silent c.822 p.V274 0.995 NULL pfam_Ribosom_reg - no_errors RRS1 HGNC RSBN1 54665 genome.wustl.edu 37 1 114311001 114311001 + Missense_Mutation SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 1 114311001 114311001 C T SNP RSBN1 ENST00000261441 human ensembl 70_37 -1 known missense c.1669 p.E557K 1.000 NULL NULL - no_errors RSBN1 HGNC RTN4IP1 84816 genome.wustl.edu 37 6 107076725 107076725 + Silent SNP G G T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 6 107076725 107076725 G T SNP RTN4IP1 ENST00000369063 human ensembl 70_37 -1 known silent c.172 p.R58 1.000 superfamily_GroES-like,smart_PKS_ER pfam_ADH_C,pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER - no_errors RTN4IP1 HGNC RTN4RL2 349667 genome.wustl.edu 37 11 57244279 57244279 + Silent SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 11 57244279 57244279 C T SNP RTN4RL2 ENST00000335099 human ensembl 70_37 +1 known silent c.1158 p.P386 0.883 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors RTN4RL2 HGNC SASH3 54440 genome.wustl.edu 37 X 128913963 128913963 + RNA SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 X 128913963 128913963 G A SNP SASH3 ENST00000476532 human ensembl 70_37 +1 known rna NULL NULL 0.005 - - - no_errors SASH3 HGNC SCG2 7857 genome.wustl.edu 37 2 224462210 224462210 + Silent SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 2 224462210 224462210 G A SNP SCG2 ENST00000305409 human ensembl 70_37 -1 known silent c.1791 p.L597 0.999 pfam_Granin pfam_Granin - no_errors SCG2 HGNC SDCCAG8 10806 genome.wustl.edu 37 1 243507587 243507587 + Missense_Mutation SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 1 243507587 243507587 G A SNP SDCCAG8 ENST00000366541 human ensembl 70_37 +1 known missense c.1427 p.R476K 1.000 NULL NULL - no_errors SDCCAG8 HGNC SERPINF2 5345 genome.wustl.edu 37 17 1657566 1657566 + Missense_Mutation SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 17 1657566 1657566 C T SNP SERPINF2 ENST00000324015 human ensembl 70_37 +1 known missense c.1214 p.S405F 0.998 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINF2 HGNC SFRP1 6422 genome.wustl.edu 37 8 41122839 41122839 + Silent SNP G G C TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 8 41122839 41122839 G C SNP SFRP1 ENST00000220772 human ensembl 70_37 -1 known silent c.792 p.L264 0.969 pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,smart_Netrin_module_non-TIMP,pfscan_Netrin_domain pfam_Frizzled_dom,pfam_Netrin_module_non-TIMP,superfamily_Frizzled_dom,superfamily_TIMP-like_OB-fold,smart_Frizzled_dom,smart_Netrin_module_non-TIMP,pfscan_Frizzled_dom,pfscan_Netrin_domain - no_errors SFRP1 HGNC SGCD 6444 genome.wustl.edu 37 5 156016295 156016295 + Missense_Mutation SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 5 156016295 156016295 G A SNP SGCD ENST00000337851 human ensembl 70_37 +1 known missense c.349 p.D117N 1.000 pfam_Sarcoglycan pfam_Sarcoglycan - no_errors SGCD HGNC SHPRH 257218 genome.wustl.edu 37 6 146275945 146275945 + Missense_Mutation SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 6 146275945 146275945 C T SNP SHPRH ENST00000367503 human ensembl 70_37 -1 known missense c.514 p.D172N 0.492 NULL pfam_SNF2_N,pfam_Histone_H1/H5,superfamily_Znf_FYVE_PHD,superfamily_WW_Rsp5_WWP,smart_Helicase_ATP-bd,smart_Histone_H1/H5,smart_Znf_PHD,smart_Znf_RING,smart_Helicase_C,pfscan_Znf_RING,pfscan_Helicase_C - no_errors SHPRH HGNC SLC19A1 6573 genome.wustl.edu 37 21 46935896 46935896 + Silent SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 21 46935896 46935896 C T SNP SLC19A1 ENST00000311124 human ensembl 70_37 -1 known silent c.1452 p.L484 0.001 pirsf_Folate_carrier,tigrfam_Folate_carrier pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier - no_errors SLC19A1 HGNC SLC19A1 6573 genome.wustl.edu 37 21 46951727 46951727 + Silent SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 21 46951727 46951727 G A SNP SLC19A1 ENST00000311124 human ensembl 70_37 -1 known silent c.525 p.V175 0.993 pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier - no_errors SLC19A1 HGNC SLC19A1 6573 genome.wustl.edu 37 21 46951839 46951839 + Missense_Mutation SNP G G C TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 21 46951839 46951839 G C SNP SLC19A1 ENST00000311124 human ensembl 70_37 -1 known missense c.413 p.S138C 1.000 pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier - no_errors SLC19A1 HGNC SLC22A31 146429 genome.wustl.edu 37 16 89264650 89264650 + RNA SNP C C G TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 16 89264650 89264650 C G SNP SLC22A31 ENST00000562855 human ensembl 70_37 -1 known rna NULL NULL 0.998 - - - no_errors SLC22A31 HGNC SLC30A1 7779 genome.wustl.edu 37 1 211749179 211749179 + Missense_Mutation SNP C C G TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 1 211749179 211749179 C G SNP SLC30A1 ENST00000367001 human ensembl 70_37 -1 known missense c.1075 p.E359Q 1.000 pfam_Cation_efflux pfam_Cation_efflux,tigrfam_Cation_efflux - no_errors SLC30A1 HGNC SLC46A3 283537 genome.wustl.edu 37 13 29284946 29284946 + Silent SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 13 29284946 29284946 G A SNP SLC46A3 ENST00000266943 human ensembl 70_37 -1 known silent c.1095 p.F365 0.088 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC46A3 HGNC SLC4A10 57282 genome.wustl.edu 37 2 162813641 162813641 + Missense_Mutation SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 2 162813641 162813641 C T SNP SLC4A10 ENST00000446997 human ensembl 70_37 +1 known missense c.2684 p.S895L 1.000 pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk - no_errors SLC4A10 HGNC SLC4A8 9498 genome.wustl.edu 37 12 51863470 51863470 + Silent SNP C C G TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 12 51863470 51863470 C G SNP SLC4A8 ENST00000453097 human ensembl 70_37 +1 known silent c.1422 p.L474 0.999 pfam_HCO3_transpt_C,prints_HCO3_transpt_euk,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk - no_errors SLC4A8 HGNC SNAI1 6615 genome.wustl.edu 37 20 48604490 48604490 + Nonsense_Mutation SNP C C G TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 20 48604490 48604490 C G SNP SNAI1 ENST00000244050 human ensembl 70_37 +1 known nonsense c.692 p.S231* 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SNAI1 HGNC SNORA11 677799 genome.wustl.edu 37 X 54840906 54840906 + RNA SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 X 54840906 54840906 C T SNP SNORA11 ENST00000408789 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors SNORA11 HGNC SOS2 6655 genome.wustl.edu 37 14 50616733 50616733 + Missense_Mutation SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 14 50616733 50616733 G A SNP SOS2 ENST00000216373 human ensembl 70_37 -1 known missense c.2377 p.L793F 1.000 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Histone_core_D,superfamily_Ras_GEF_dom,superfamily_Histone-fold,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors SOS2 HGNC SPHK2 56848 genome.wustl.edu 37 19 49132817 49132817 + Silent SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 19 49132817 49132817 C T SNP SPHK2 ENST00000443164 human ensembl 70_37 +1 known silent c.1938 p.F646 0.999 NULL pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom - no_errors SPHK2 HGNC SPHK2 56848 genome.wustl.edu 37 19 49132889 49132889 + Silent SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 19 49132889 49132889 C T SNP SPHK2 ENST00000443164 human ensembl 70_37 +1 known silent c.2010 p.F670 1.000 NULL pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom - no_errors SPHK2 HGNC SPTLC3 55304 genome.wustl.edu 37 20 13074214 13074214 + Missense_Mutation SNP C C G TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 20 13074214 13074214 C G SNP SPTLC3 ENST00000399002 human ensembl 70_37 +1 known missense c.816 p.F272L 1.000 pfam_Aminotransferase_I/II,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase_major_dom pfam_Aminotransferase_I/II,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors SPTLC3 HGNC TACC3 10460 genome.wustl.edu 37 4 1742569 1742569 + Silent SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 4 1742569 1742569 G A SNP TACC3 ENST00000313288 human ensembl 70_37 +1 known silent c.2079 p.Q693 1.000 pfam_TACC pfam_TACC - no_errors TACC3 HGNC TAF1B 9014 genome.wustl.edu 37 2 9989550 9989550 + Missense_Mutation SNP A A C TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 2 9989550 9989550 A C SNP TAF1B ENST00000263663 human ensembl 70_37 +1 known missense c.166 p.K56Q 0.999 NULL pfam_TF_Rrn7 - no_errors TAF1B HGNC TAPBP 6892 genome.wustl.edu 37 6 33272263 33272263 + Nonsense_Mutation SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 6 33272263 33272263 G A SNP TAPBP ENST00000426633 human ensembl 70_37 -1 known nonsense c.1021 p.Q341* 0.000 pfam_Ig_C1-set,pfscan_Ig-like pfam_Ig_C1-set,pfscan_Ig-like,prints_Tapasin - no_errors TAPBP HGNC TAS1R2 80834 genome.wustl.edu 37 1 19180914 19180914 + Silent SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 1 19180914 19180914 G A SNP TAS1R2 ENST00000375371 human ensembl 70_37 -1 novel silent c.1050 p.L350 0.000 pfam_ANF_lig-bd_rcpt pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3 - no_errors TAS1R2 HGNC TAS1R3 83756 genome.wustl.edu 37 1 1267263 1267263 + Nonsense_Mutation SNP C C A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 1 1267263 1267263 C A SNP TAS1R3 ENST00000339381 human ensembl 70_37 +1 known nonsense c.437 p.S146* 0.085 pfam_ANF_lig-bd_rcpt,prints_GPCR_3 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3 - no_errors TAS1R3 HGNC TCP10 6953 genome.wustl.edu 37 6 167786724 167786724 + Missense_Mutation SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 6 167786724 167786724 G A SNP TCP10 ENST00000397829 human ensembl 70_37 -1 known missense c.914 p.S305F 0.000 NULL NULL - no_errors TCP10 HGNC TENM1 10178 genome.wustl.edu 37 X 124097521 124097521 + Missense_Mutation SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 X 124097521 124097521 C T SNP TENM1 ENST00000422452 human ensembl 70_37 -1 known missense c.82 p.D28N 1.000 pfam_Ten_N pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD - no_errors TENM1 HGNC TEX30 93081 genome.wustl.edu 37 13 103418790 103418790 + Nonsense_Mutation SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 13 103418790 103418790 C T SNP TEX30 ENST00000376032 human ensembl 70_37 -1 known nonsense c.645 p.W215* 1.000 NULL pfam_Dienelactn_hydro - no_errors TEX30 HGNC TMC5 79838 genome.wustl.edu 37 16 19468108 19468108 + Nonsense_Mutation SNP C C G TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 16 19468108 19468108 C G SNP TMC5 ENST00000219821 human ensembl 70_37 +1 known nonsense c.80 p.S27* 0.006 NULL pfam_TMC - no_errors TMC5 HGNC TMC5 79838 genome.wustl.edu 37 16 19468272 19468272 + Missense_Mutation SNP C C G TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 16 19468272 19468272 C G SNP TMC5 ENST00000219821 human ensembl 70_37 +1 known missense c.244 p.Q82E 0.041 NULL pfam_TMC - no_errors TMC5 HGNC TMEM181 57583 genome.wustl.edu 37 6 159029698 159029698 + Missense_Mutation SNP G G C TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 6 159029698 159029698 G C SNP TMEM181 ENST00000367090 human ensembl 70_37 +1 known missense c.1223 p.R408T 0.997 NULL NULL - no_errors TMEM181 HGNC TMEM59 9528 genome.wustl.edu 37 1 54509139 54509139 + Silent SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 1 54509139 54509139 G A SNP TMEM59 ENST00000234831 human ensembl 70_37 -1 known silent c.450 p.F150 1.000 pfam_Uncharacterised_TMEM59 pfam_Uncharacterised_TMEM59,superfamily_Prot_inh_Kunz-m - no_errors TMEM59 HGNC TNFRSF8 943 genome.wustl.edu 37 1 12183349 12183349 + Missense_Mutation SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 1 12183349 12183349 G A SNP TNFRSF8 ENST00000263932 human ensembl 70_37 +1 known missense c.955 p.E319K 0.001 NULL pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_8 - no_errors TNFRSF8 HGNC TNS3 64759 genome.wustl.edu 37 7 47408885 47408885 + Missense_Mutation SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 7 47408885 47408885 C T SNP TNS3 ENST00000311160 human ensembl 70_37 -1 known missense c.1358 p.G453E 1.000 NULL pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,smart_SH2,smart_PTyr_interaction_dom,pfscan_SH2,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TNS3 HGNC TPP2 7174 genome.wustl.edu 37 13 103309409 103309409 + Missense_Mutation SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 13 103309409 103309409 G A SNP TPP2 ENST00000376065 human ensembl 70_37 +1 known missense c.2956 p.V986I 0.997 NULL pfam_Peptidase_S8/S53,pfam_Peptidase_S8A_TPPII,superfamily_Peptidase_S8/S53,prints_Peptidase_S8_subtilisin-rel - no_errors TPP2 HGNC TRIM16L 147166 genome.wustl.edu 37 17 18625638 18625638 + Missense_Mutation SNP C C G TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 17 18625638 18625638 C G SNP TRIM16L ENST00000395902 human ensembl 70_37 +1 known missense c.122 p.S41C 0.994 NULL pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin - no_errors TRIM16L HGNC TRIM35 23087 genome.wustl.edu 37 8 27145094 27145094 + Silent SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 8 27145094 27145094 G A SNP TRIM35 ENST00000305364 human ensembl 70_37 -1 known silent c.1455 p.I485 0.211 superfamily_ConA-like_lec_gl_sf,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM35 HGNC TRPC5 7224 genome.wustl.edu 37 X 111078180 111078180 + Missense_Mutation SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 X 111078180 111078180 G A SNP TRPC5 ENST00000262839 human ensembl 70_37 -1 known missense c.1865 p.A622V 1.000 pfam_Ion_trans_dom,prints_TRPC_channel,tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC5_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC5 HGNC TRPM6 140803 genome.wustl.edu 37 9 77417025 77417025 + Missense_Mutation SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 9 77417025 77417025 C T SNP TRPM6 ENST00000451710 human ensembl 70_37 -1 known missense c.1798 p.E600K 0.970 NULL pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase - no_errors TRPM6 HGNC UBAP2L 9898 genome.wustl.edu 37 1 154223781 154223781 + Missense_Mutation SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 1 154223781 154223781 C T SNP UBAP2L ENST00000361546 human ensembl 70_37 +1 known missense c.1478 p.S493F 1.000 NULL pfam_DUF3697_Uba2,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors UBAP2L HGNC UBN1 29855 genome.wustl.edu 37 16 4921180 4921180 + Silent SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 16 4921180 4921180 G A SNP UBN1 ENST00000262376 human ensembl 70_37 +1 known silent c.1584 p.K528 1.000 NULL NULL - no_errors UBN1 HGNC VPS13A 23230 genome.wustl.edu 37 9 79853265 79853265 + Missense_Mutation SNP G G C TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 9 79853265 79853265 G C SNP VPS13A ENST00000360280 human ensembl 70_37 +1 known missense c.1863 p.L621F 1.000 NULL pfam_VPSAP,pfam_Autophagy-rel_C - no_errors VPS13A HGNC WIZ 58525 genome.wustl.edu 37 19 15550742 15550742 + Missense_Mutation SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 19 15550742 15550742 C T SNP WIZ ENST00000389282 human ensembl 70_37 -1 known missense c.919 p.G307R 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors WIZ HGNC WRN 7486 genome.wustl.edu 37 8 31012235 31012235 + Silent SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 8 31012235 31012235 C T SNP WRN ENST00000298139 human ensembl 70_37 +1 known silent c.3783 p.I1261 0.994 NULL pfam_3'-5'_exonuclease_dom,pfam_Helicase_C,pfam_RQC_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/RNaseD_C,superfamily_RNaseH-like_dom,superfamily_HRDC-like,smart_3'-5'_exonuclease_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_RQC_domain,smart_Helicase/RNaseD_C,pfscan_Helicase/RNaseD_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors WRN HGNC YIPF1 54432 genome.wustl.edu 37 1 54325793 54325793 + Missense_Mutation SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 1 54325793 54325793 G A SNP YIPF1 ENST00000539954 human ensembl 70_37 -1 known missense c.940 p.L314F 0.914 NULL pfam_Yip1,superfamily_Ribonuclease/ribotoxin - no_errors YIPF1 HGNC ZDHHC8 29801 genome.wustl.edu 37 22 20127392 20127392 + Silent SNP G G T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 22 20127392 20127392 G T SNP ZDHHC8 ENST00000405930 human ensembl 70_37 +1 known silent c.534 p.L178 1.000 NULL pfam_Znf_DHHC_palmitoyltrfase,superfamily_Plexin-like_fold,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC8 HGNC ZNF112 7771 genome.wustl.edu 37 19 44832961 44832961 + Nonsense_Mutation SNP G G C TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 19 44832961 44832961 G C SNP ZFP112 ENST00000536500 human ensembl 70_37 -1 known nonsense c.1418 p.S473* 0.005 pfscan_Znf_C2H2 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 ZFP112 HGNC ZNF12 7559 genome.wustl.edu 37 7 6730664 6730664 + Missense_Mutation SNP C C G TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 7 6730664 6730664 C G SNP ZNF12 ENST00000405858 human ensembl 70_37 -1 known missense c.1909 p.E637Q 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 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 ZNF12 HGNC ZNF382 84911 genome.wustl.edu 37 19 37117673 37117673 + Missense_Mutation SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 19 37117673 37117673 G A SNP ZNF382 ENST00000292928 human ensembl 70_37 +1 known missense c.874 p.E292K 0.996 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 ZNF382 HGNC ZNF384 171017 genome.wustl.edu 37 12 6776880 6776880 + Nonstop_Mutation SNP C C G TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 12 6776880 6776880 C G SNP ZNF384 ENST00000361959 human ensembl 70_37 -1 known nonstop c.1734 p.*578Y 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF384 HGNC ZNF525 170958 genome.wustl.edu 37 19 53885136 53885136 + Missense_Mutation SNP G G C TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 19 53885136 53885136 G C SNP ZNF525 ENST00000355326 human ensembl 70_37 +1 known missense c.458 p.G153A 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF525 HGNC ZNF578 147660 genome.wustl.edu 37 19 53014094 53014094 + Missense_Mutation SNP G G T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 19 53014094 53014094 G T SNP ZNF578 ENST00000421239 human ensembl 70_37 +1 known missense c.460 p.D154Y 0.013 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 ZNF646 9726 genome.wustl.edu 37 16 31089785 31089785 + Nonsense_Mutation SNP G G T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 16 31089785 31089785 G T SNP ZNF646 ENST00000300850 human ensembl 70_37 +1 known nonsense c.2140 p.E714* 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF646 HGNC ZNF655 79027 genome.wustl.edu 37 7 99169959 99169959 + Silent SNP C C T TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 7 99169959 99169959 C T SNP ZNF655 ENST00000424881 human ensembl 70_37 +1 known silent c.333 p.L111 0.998 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF655 HGNC ZXDB 158586 genome.wustl.edu 37 X 57620102 57620102 + Missense_Mutation SNP G G A TCGA-JW-A5VJ-01A-11D-A28B-09 TCGA-JW-A5VJ-10A-01D-A28E-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8f4516f0-ef3b-4f1a-881c-a1289520ada8 19f2afb8-2dd8-4f73-bd4d-571cf4a16341 X 57620102 57620102 G A SNP ZXDB ENST00000374888 human ensembl 70_37 +1 known missense c.1621 p.D541N 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZXDB HGNC