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 AACSP1 729522 genome.wustl.edu 37 5 178203190 178203190 + RNA SNP C C G TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 5 178203190 178203190 C G SNP AACSP1 ENST00000503486 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors AACSP1 HGNC ABCA1 19 genome.wustl.edu 37 9 107550317 107550317 + Missense_Mutation SNP G G A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 9 107550317 107550317 G A SNP ABCA1 ENST00000374736 human ensembl 70_37 -1 known missense c.6088 p.R2030W 1.000 pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA1 HGNC ABCA1 19 genome.wustl.edu 37 9 107550317 107550317 + Missense_Mutation SNP G G A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 9 107550317 107550317 G A SNP ABCA1 ENST00000374736 human ensembl 70_37 -1 known missense c.6088 p.R2030W 1.000 pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA1 HGNC ABCD1 215 genome.wustl.edu 37 X 152991452 152991452 + Missense_Mutation SNP C C T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 X 152991452 152991452 C T SNP ABCD1 ENST00000218104 human ensembl 70_37 +1 known missense c.731 p.S244L 0.952 pfam_ABC_Ald_N,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1,tigrfam_FA_transporter pfam_ABC_Ald_N,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_FA_transporter - no_errors ABCD1 HGNC ADAMTS20 80070 genome.wustl.edu 37 12 43945017 43945017 + Missense_Mutation SNP C C T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 12 43945017 43945017 C T SNP ADAMTS20 ENST00000389420 human ensembl 70_37 -1 known missense c.148 p.E50K 1.000 pfam_Peptidase_M12B_N pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS20 HGNC ADAMTS20 80070 genome.wustl.edu 37 12 43945017 43945017 + Missense_Mutation SNP C C T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 12 43945017 43945017 C T SNP ADAMTS20 ENST00000389420 human ensembl 70_37 -1 known missense c.148 p.E50K 1.000 pfam_Peptidase_M12B_N pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS20 HGNC ADCK1 57143 genome.wustl.edu 37 14 78366917 78366917 + Nonsense_Mutation SNP G G T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 14 78366917 78366917 G T SNP ADCK1 ENST00000393639 human ensembl 70_37 +1 known nonsense c.598 p.E200* 0.009 NULL pfam_UbiB_dom - no_errors ADCK1 HGNC AFF3 3899 genome.wustl.edu 37 2 100728975 100728975 + RNA SNP G G A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 2 100728975 100728975 G A SNP AFF3 ENST00000483600 human ensembl 70_37 -1 known rna NULL NULL 0.003 - - - no_errors AFF3 HGNC ALDH3B2 222 genome.wustl.edu 37 11 67438577 67438577 + RNA SNP C C T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 11 67438577 67438577 C T SNP ALDH3B2 ENST00000531881 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors ALDH3B2 HGNC ALS2CL 259173 genome.wustl.edu 37 3 46722730 46722730 + Missense_Mutation SNP G G A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 3 46722730 46722730 G A SNP ALS2CL ENST00000431015 human ensembl 70_37 -1 known missense c.1417 p.R473C 0.009 NULL pfam_MORN,superfamily_DH-domain,smart_MORN - no_errors ALS2CL HGNC ANKRD30A 91074 genome.wustl.edu 37 10 37508313 37508313 + Missense_Mutation SNP A A T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 10 37508313 37508313 A T SNP ANKRD30A ENST00000361713 human ensembl 70_37 +1 known missense c.3505 p.I1169F 0.387 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD30A HGNC ANKRD30A 91074 genome.wustl.edu 37 10 37508313 37508313 + Missense_Mutation SNP A A T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 10 37508313 37508313 A T SNP ANKRD30A ENST00000361713 human ensembl 70_37 +1 known missense c.3505 p.I1169F 0.387 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD30A HGNC AP3D1 8943 genome.wustl.edu 37 19 2120979 2120979 + Missense_Mutation SNP C C A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 19 2120979 2120979 C A SNP AP3D1 ENST00000355272 human ensembl 70_37 -1 known missense c.1363 p.A455S 0.999 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_complex_dsu pfam_BLV_receptor,pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_complex_dsu - no_errors AP3D1 HGNC APOL1 8542 genome.wustl.edu 37 22 36657728 36657728 + Nonsense_Mutation SNP G G T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 22 36657728 36657728 G T SNP APOL1 ENST00000319136 human ensembl 70_37 +1 known nonsense c.322 p.E108* 0.000 pfam_ApoL pfam_ApoL - no_errors APOL1 HGNC APP 351 genome.wustl.edu 37 21 27543063 27543063 + RNA SNP C C T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 21 27543063 27543063 C T SNP APP ENST00000474136 human ensembl 70_37 -1 known rna NULL NULL 0.293 - - - no_errors APP HGNC AQP2 359 genome.wustl.edu 37 12 50347951 50347951 + Missense_Mutation SNP C C T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 12 50347951 50347951 C T SNP AQP2 ENST00000199280 human ensembl 70_37 +1 known missense c.374 p.T125M 0.912 pfam_MIP,superfamily_Aquaporin-like,tigrfam_MIP pfam_MIP,superfamily_Aquaporin-like,prints_MIP,tigrfam_MIP - no_errors AQP2 HGNC AQP2 359 genome.wustl.edu 37 12 50347951 50347951 + Missense_Mutation SNP C C T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 12 50347951 50347951 C T SNP AQP2 ENST00000199280 human ensembl 70_37 +1 known missense c.374 p.T125M 0.912 pfam_MIP,superfamily_Aquaporin-like,tigrfam_MIP pfam_MIP,superfamily_Aquaporin-like,prints_MIP,tigrfam_MIP - no_errors AQP2 HGNC ARL8B 55207 genome.wustl.edu 37 3 5164213 5164213 + Nonsense_Mutation SNP G G T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 3 5164213 5164213 G T SNP ARL8B ENST00000455168 human ensembl 70_37 +1 known nonsense c.235 p.G79* 1.000 NULL NULL - no_errors ARL8B HGNC ARRB1 408 genome.wustl.edu 37 11 74995312 74995312 + Missense_Mutation SNP G G T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 11 74995312 74995312 G T SNP ARRB1 ENST00000393505 human ensembl 70_37 -1 known missense c.124 p.L42M 1.000 pfam_Arrestin-like_N,superfamily_Ig_E-set,prints_Arrestin pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set,prints_Arrestin - no_errors ARRB1 HGNC ATG2B 55102 genome.wustl.edu 37 14 96752136 96752136 + Missense_Mutation SNP C C A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 14 96752136 96752136 C A SNP ATG2B ENST00000359933 human ensembl 70_37 -1 known missense c.6193 p.V2065F 1.000 pfam_Autophagy-rel_C pfam_Autophagy-rel_C - no_errors ATG2B HGNC AXDND1 126859 genome.wustl.edu 37 1 179363044 179363044 + Missense_Mutation SNP G G C TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 1 179363044 179363044 G C SNP AXDND1 ENST00000367618 human ensembl 70_37 +1 known missense c.870 p.R290S 0.996 pfam_Axonemal_dynein_light_chain pfam_Axonemal_dynein_light_chain - no_errors AXDND1 HGNC AXDND1 126859 genome.wustl.edu 37 1 179363044 179363044 + Missense_Mutation SNP G G C TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 1 179363044 179363044 G C SNP AXDND1 ENST00000367618 human ensembl 70_37 +1 known missense c.870 p.R290S 0.996 pfam_Axonemal_dynein_light_chain pfam_Axonemal_dynein_light_chain - no_errors AXDND1 HGNC BCL6 604 genome.wustl.edu 37 3 187444680 187444680 + Missense_Mutation SNP C C T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 3 187444680 187444680 C T SNP BCL6 ENST00000232014 human ensembl 70_37 -1 known missense c.1547 p.G516E 1.000 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors BCL6 HGNC C11orf52 91894 genome.wustl.edu 37 11 111795061 111795061 + Nonsense_Mutation SNP C C G TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 11 111795061 111795061 C G SNP C11orf52 ENST00000278601 human ensembl 70_37 +1 known nonsense c.44 p.S15* 0.759 NULL NULL - no_errors C11orf52 HGNC C11orf52 91894 genome.wustl.edu 37 11 111795061 111795061 + Nonsense_Mutation SNP C C G TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 11 111795061 111795061 C G SNP C11orf52 ENST00000278601 human ensembl 70_37 +1 known nonsense c.44 p.S15* 0.759 NULL NULL - no_errors C11orf52 HGNC C1QTNF6 114904 genome.wustl.edu 37 22 37578265 37578265 + Missense_Mutation SNP G G T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 22 37578265 37578265 G T SNP C1QTNF6 ENST00000337843 human ensembl 70_37 -1 known missense c.800 p.T267N 1.000 pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QTNF6 HGNC C2orf49 79074 genome.wustl.edu 37 2 105954074 105954074 + Silent SNP C C T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 2 105954074 105954074 C T SNP C2orf49 ENST00000258457 human ensembl 70_37 +1 known silent c.30 p.C10 0.106 NULL NULL - no_errors C2orf49 HGNC C2orf49 79074 genome.wustl.edu 37 2 105954074 105954074 + Silent SNP C C T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 2 105954074 105954074 C T SNP C2orf49 ENST00000258457 human ensembl 70_37 +1 known silent c.30 p.C10 0.106 NULL NULL - no_errors C2orf49 HGNC C3 718 genome.wustl.edu 37 19 6713311 6713311 + Missense_Mutation SNP C C A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 19 6713311 6713311 C A SNP C3 ENST00000245907 human ensembl 70_37 -1 known missense c.892 p.G298W 0.906 NULL pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_Netrin_module_non-TIMP,pfam_A2M_N_2,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain,prints_Anaphylatoxn - no_errors C3 HGNC CBLL1 79872 genome.wustl.edu 37 7 107393876 107393876 + Missense_Mutation SNP G G C TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 7 107393876 107393876 G C SNP CBLL1 ENST00000440859 human ensembl 70_37 +1 known missense c.202 p.E68Q 1.000 NULL pfscan_Znf_RING - no_errors CBLL1 HGNC CBLL1 79872 genome.wustl.edu 37 7 107393876 107393876 + Missense_Mutation SNP G G C TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 7 107393876 107393876 G C SNP CBLL1 ENST00000440859 human ensembl 70_37 +1 known missense c.202 p.E68Q 1.000 NULL pfscan_Znf_RING - no_errors CBLL1 HGNC CCDC12 151903 genome.wustl.edu 37 3 46982549 46982549 + Nonsense_Mutation SNP C C A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 3 46982549 46982549 C A SNP CCDC12 ENST00000292314 human ensembl 70_37 -1 known nonsense c.142 p.E48* 1.000 pfam_mRNA_splic_Cwf18 pfam_mRNA_splic_Cwf18 - no_errors CCDC12 HGNC CCDC90B 60492 genome.wustl.edu 37 11 82996675 82996675 + RNA SNP G G T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 11 82996675 82996675 G T SNP CCDC90B ENST00000525916 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors CCDC90B HGNC CCT3 7203 genome.wustl.edu 37 1 156308088 156308088 + RNA SNP C C G TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 1 156308088 156308088 C G SNP CCT3 ENST00000368256 human ensembl 70_37 -1 known rna NULL NULL 0.076 - - - no_errors CCT3 HGNC CD3D 915 genome.wustl.edu 37 11 118213300 118213300 + Missense_Mutation SNP G G T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 11 118213300 118213300 G T SNP CD3D ENST00000300692 human ensembl 70_37 -1 known missense c.23 p.S8Y 0.007 NULL pfam_Phos_immunorcpt_sig_ITAM,smart_Phos_immunorcpt_sig_ITAM,pfscan_Phos_immunorcpt_sig_ITAM - no_errors CD3D HGNC CD3D 915 genome.wustl.edu 37 11 118213309 118213309 + Missense_Mutation SNP G G T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 11 118213309 118213309 G T SNP CD3D ENST00000300692 human ensembl 70_37 -1 known missense c.14 p.T5K 0.000 NULL pfam_Phos_immunorcpt_sig_ITAM,smart_Phos_immunorcpt_sig_ITAM,pfscan_Phos_immunorcpt_sig_ITAM - no_errors CD3D HGNC CEP135 9662 genome.wustl.edu 37 4 56831889 56831889 + Missense_Mutation SNP C C G TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 4 56831889 56831889 C G SNP CEP135 ENST00000257287 human ensembl 70_37 +1 known missense c.908 p.S303C 0.276 NULL superfamily_Prefoldin - no_errors CEP135 HGNC CEP135 9662 genome.wustl.edu 37 4 56831889 56831889 + Missense_Mutation SNP C C G TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 4 56831889 56831889 C G SNP CEP135 ENST00000257287 human ensembl 70_37 +1 known missense c.908 p.S303C 0.276 NULL superfamily_Prefoldin - no_errors CEP135 HGNC CGA 1081 genome.wustl.edu 37 6 87795485 87795485 + Missense_Mutation SNP G G C TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 6 87795485 87795485 G C SNP CGA ENST00000369582 human ensembl 70_37 -1 known missense c.340 p.H114D 1.000 pfam_Glyco_hormone,smart_Glyco_hormone,pfscan_Glyco_hormone,prints_Glyco_hormone pfam_Glyco_hormone,smart_Glyco_hormone,pfscan_Glyco_hormone,prints_Glyco_hormone - no_errors CGA HGNC CHERP 10523 genome.wustl.edu 37 19 16643447 16643447 + Silent SNP C C A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 19 16643447 16643447 C A SNP CHERP ENST00000546361 human ensembl 70_37 -1 known silent c.636 p.L212 1.000 pfam_RNA_pol_II-bd,superfamily_ENTH_VHS pfam_Surp,pfam_G_patch_dom,pfam_RNA_pol_II-bd,superfamily_Surp,superfamily_ENTH_VHS,smart_Surp,smart_G_patch_dom,pfscan_Surp,pfscan_G_patch_dom - no_errors CHERP HGNC CHST15 51363 genome.wustl.edu 37 10 125804148 125804148 + Missense_Mutation SNP C C A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 10 125804148 125804148 C A SNP CHST15 ENST00000346248 human ensembl 70_37 -1 known missense c.834 p.E278D 0.580 pfam_Sulfotransferase_dom pfam_Sulfotransferase_dom - no_errors CHST15 HGNC CHURC1-FNTB 100529261 genome.wustl.edu 37 14 65494288 65494288 + Silent SNP C C A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 14 65494288 65494288 C A SNP CHURC1-FNTB ENST00000447296 human ensembl 70_37 +1 known silent c.594 p.G198 1.000 pfam_Prenyltrans,superfamily_Terpenoid_cyclase/PrenylTrfase pfam_Prenyltrans,pfam_Transcrpt_activator_Churchill,superfamily_Terpenoid_cyclase/PrenylTrfase - no_errors CHURC1-FNTB HGNC CLCN1 1180 genome.wustl.edu 37 7 143039071 143039071 + Silent SNP G G T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 7 143039071 143039071 G T SNP CLCN1 ENST00000343257 human ensembl 70_37 +1 known silent c.1632 p.V544 1.000 pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core,prints_Cl-channel_volt-gated pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,prints_Cl-channel_volt-gated,prints_Cl_channel-1 - no_errors CLCN1 HGNC CLCN1 1180 genome.wustl.edu 37 7 143039071 143039071 + Silent SNP G G T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 7 143039071 143039071 G T SNP CLCN1 ENST00000343257 human ensembl 70_37 +1 known silent c.1632 p.V544 1.000 pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core,prints_Cl-channel_volt-gated pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,prints_Cl-channel_volt-gated,prints_Cl_channel-1 - no_errors CLCN1 HGNC CLEC3B 7123 genome.wustl.edu 37 3 45067904 45067904 + Missense_Mutation SNP C C G TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 3 45067904 45067904 C G SNP CLEC3B ENST00000296130 human ensembl 70_37 +1 known missense c.50 p.T17S 0.997 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CLEC3B HGNC CLVS1 157807 genome.wustl.edu 37 8 62377357 62377357 + RNA SNP G G A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 8 62377357 62377357 G A SNP CLVS1 ENST00000518858 human ensembl 70_37 +1 known rna NULL NULL 0.004 - - - no_errors CLVS1 HGNC CNNM1 26507 genome.wustl.edu 37 10 101090617 101090617 + Silent SNP C C T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 10 101090617 101090617 C T SNP CNNM1 ENST00000356713 human ensembl 70_37 +1 known silent c.1473 p.D491 1.000 NULL pfam_DUF21,pfam_Cysta_beta_synth_core - no_errors CNNM1 HGNC CNNM1 26507 genome.wustl.edu 37 10 101090617 101090617 + Silent SNP C C T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 10 101090617 101090617 C T SNP CNNM1 ENST00000356713 human ensembl 70_37 +1 known silent c.1473 p.D491 1.000 NULL pfam_DUF21,pfam_Cysta_beta_synth_core - no_errors CNNM1 HGNC COL4A3BP 10087 genome.wustl.edu 37 5 74677813 74677813 + Nonsense_Mutation SNP C C T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 5 74677813 74677813 C T SNP COL4A3BP ENST00000380494 human ensembl 70_37 -1 known nonsense c.1962 p.W654* 1.000 pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd pfam_START_lipid-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_START_lipid-bd,pfscan_Pleckstrin_homology,pfscan_START_lipid-bd - no_errors COL4A3BP HGNC COL4A3BP 10087 genome.wustl.edu 37 5 74677813 74677813 + Nonsense_Mutation SNP C C T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 5 74677813 74677813 C T SNP COL4A3BP ENST00000380494 human ensembl 70_37 -1 known nonsense c.1962 p.W654* 1.000 pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd pfam_START_lipid-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_START_lipid-bd,pfscan_Pleckstrin_homology,pfscan_START_lipid-bd - no_errors COL4A3BP HGNC CREB5 9586 genome.wustl.edu 37 7 28843972 28843972 + Missense_Mutation SNP C C A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 7 28843972 28843972 C A SNP CREB5 ENST00000357727 human ensembl 70_37 +1 known missense c.859 p.H287N 1.000 pirsf_TF_cAMP-dep pfam_bZIP,smart_bZIP,pirsf_TF_cAMP-dep,pfscan_Znf_C2H2,pfscan_bZIP - no_errors CREB5 HGNC CSPG4 1464 genome.wustl.edu 37 15 75982058 75982058 + Missense_Mutation SNP T T A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 15 75982058 75982058 T A SNP CSPG4 ENST00000308508 human ensembl 70_37 -1 known missense c.1348 p.R450W 0.228 NULL pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G - no_errors CSPG4 HGNC CT47B1 643311 genome.wustl.edu 37 X 120009217 120009217 + Missense_Mutation SNP G G A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 X 120009217 120009217 G A SNP CT47B1 ENST00000371311 human ensembl 70_37 -1 known missense c.308 p.A103V 0.000 NULL NULL - no_errors CT47B1 HGNC DEPDC4 120863 genome.wustl.edu 37 12 100649885 100649885 + Missense_Mutation SNP G G C TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 12 100649885 100649885 G C SNP DEPDC4 ENST00000378244 human ensembl 70_37 -1 known missense c.820 p.L274V 0.952 NULL pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom - no_errors DEPDC4 HGNC DEPDC4 120863 genome.wustl.edu 37 12 100649885 100649885 + Missense_Mutation SNP G G C TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 12 100649885 100649885 G C SNP DEPDC4 ENST00000378244 human ensembl 70_37 -1 known missense c.820 p.L274V 0.952 NULL pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom - no_errors DEPDC4 HGNC DESI1 27351 genome.wustl.edu 37 22 41999299 41999299 + Missense_Mutation SNP G G T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 22 41999299 41999299 G T SNP DESI1 ENST00000263256 human ensembl 70_37 -1 novel missense c.377 p.S126Y 1.000 pfam_DUF862_euk pfam_DUF862_euk - no_errors DESI1 HGNC DLG2 1740 genome.wustl.edu 37 11 83252886 83252886 + Nonsense_Mutation SNP G G T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 11 83252886 83252886 G T SNP DLG2 ENST00000376104 human ensembl 70_37 -1 known nonsense c.1956 p.Y652* 0.998 pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pirsf_M-assoc_guanylate_kinase,pfscan_SH3_domain pfam_PDZ,pfam_Guanylate_kin,pfam_MAGUK_PEST_N,pfam_PDZ_assoc,pfam_L27_1,pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pirsf_M-assoc_guanylate_kinase,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin - no_errors DLG2 HGNC DNAH3 55567 genome.wustl.edu 37 16 20996705 20996705 + Silent SNP G G A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 16 20996705 20996705 G A SNP DNAH3 ENST00000261383 human ensembl 70_37 -1 known silent c.7359 p.Y2453 0.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC DNAH3 55567 genome.wustl.edu 37 16 20996705 20996705 + Silent SNP G G A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 16 20996705 20996705 G A SNP DNAH3 ENST00000261383 human ensembl 70_37 -1 known silent c.7359 p.Y2453 0.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC DNAH9 1770 genome.wustl.edu 37 17 11593113 11593113 + Missense_Mutation SNP G G T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 17 11593113 11593113 G T SNP DNAH9 ENST00000262442 human ensembl 70_37 +1 known missense c.3974 p.R1325M 0.005 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH9 HGNC DOCK10 55619 genome.wustl.edu 37 2 225637916 225637916 + Missense_Mutation SNP C C G TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 2 225637916 225637916 C G SNP DOCK10 ENST00000258390 human ensembl 70_37 -1 known missense c.6162 p.M2054I 1.000 pfam_DOCK_C,superfamily_ARM-type_fold pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK10 HGNC DOCK10 55619 genome.wustl.edu 37 2 225637916 225637916 + Missense_Mutation SNP C C G TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 2 225637916 225637916 C G SNP DOCK10 ENST00000258390 human ensembl 70_37 -1 known missense c.6162 p.M2054I 1.000 pfam_DOCK_C,superfamily_ARM-type_fold pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK10 HGNC DOPEY2 9980 genome.wustl.edu 37 21 37664501 37664501 + Missense_Mutation SNP G G C TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 21 37664501 37664501 G C SNP DOPEY2 ENST00000399151 human ensembl 70_37 +1 known missense c.6615 p.R2205S 0.999 NULL pfam_Dopey_N - no_errors DOPEY2 HGNC DOPEY2 9980 genome.wustl.edu 37 21 37664501 37664501 + Missense_Mutation SNP G G C TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 21 37664501 37664501 G C SNP DOPEY2 ENST00000399151 human ensembl 70_37 +1 known missense c.6615 p.R2205S 0.999 NULL pfam_Dopey_N - no_errors DOPEY2 HGNC DST 667 genome.wustl.edu 37 6 56458919 56458919 + Missense_Mutation SNP C C G TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 6 56458919 56458919 C G SNP DST ENST00000370754 human ensembl 70_37 -1 known missense c.12175 p.E4059Q 1.000 superfamily_ABC_transptrTM_dom_typ1 pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,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 DST HGNC DST 667 genome.wustl.edu 37 6 56458919 56458919 + Missense_Mutation SNP C C G TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 6 56458919 56458919 C G SNP DST ENST00000370754 human ensembl 70_37 -1 known missense c.12175 p.E4059Q 1.000 superfamily_ABC_transptrTM_dom_typ1 pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,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 DST HGNC E2F5 1875 genome.wustl.edu 37 8 86127981 86127981 + RNA SNP G G A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 8 86127981 86127981 G A SNP E2F5 ENST00000519128 human ensembl 70_37 +1 known rna NULL NULL 0.151 - - - no_errors E2F5 HGNC EIF4ENIF1 56478 genome.wustl.edu 37 22 31859712 31859712 + Missense_Mutation SNP C C G TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 22 31859712 31859712 C G SNP EIF4ENIF1 ENST00000330125 human ensembl 70_37 -1 known missense c.540 p.L180F 0.998 pfam_eIF4E_transporter pfam_eIF4E_transporter - no_errors EIF4ENIF1 HGNC EIF4ENIF1 56478 genome.wustl.edu 37 22 31859712 31859712 + Missense_Mutation SNP C C G TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 22 31859712 31859712 C G SNP EIF4ENIF1 ENST00000330125 human ensembl 70_37 -1 known missense c.540 p.L180F 0.998 pfam_eIF4E_transporter pfam_eIF4E_transporter - no_errors EIF4ENIF1 HGNC ENSG00000189238 0 genome.wustl.edu 37 12 127211217 127211217 + RNA SNP C C T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 12 127211217 127211217 C T SNP ENSG00000189238 ENST00000539315 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors RP11-173C20.1 Clone_based_vega_gene ENSG00000202100 0 genome.wustl.edu 37 17 30790491 30790491 + RNA SNP C C T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 17 30790491 30790491 C T SNP ENSG00000202100 ENST00000365230 human ensembl 70_37 -1 novel rna NULL NULL 0.000 - - - no_errors Y_RNA RFAM ENSG00000204055 0 genome.wustl.edu 37 9 131971882 131971882 + RNA SNP G G T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 9 131971882 131971882 G T SNP ENSG00000204055 ENST00000372490 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-247A12.2 Clone_based_vega_gene ENSG00000205266 0 genome.wustl.edu 37 17 18319135 18319135 + RNA SNP C C A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 17 18319135 18319135 C A SNP ENSG00000205266 ENST00000445433 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors AL353997.3 Clone_based_vega_gene ENSG00000206195 0 genome.wustl.edu 37 22 16149692 16149692 + RNA SNP G G T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 22 16149692 16149692 G T SNP ENSG00000206195 ENST00000447898 human ensembl 70_37 -1 known rna NULL NULL 0.144 - - - no_errors AP000525.8 Clone_based_vega_gene ENSG00000221400 0 genome.wustl.edu 37 10 43912788 43912788 + RNA SNP C C G TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 10 43912788 43912788 C G SNP ENSG00000221400 ENST00000408473 human ensembl 70_37 -1 novel rna NULL NULL 0.162 - - - no_errors U3 RFAM ENSG00000224825 0 genome.wustl.edu 37 9 77113233 77113233 + RNA SNP G G A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 9 77113233 77113233 G A SNP ENSG00000224825 ENST00000417576 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-171A24.3 Clone_based_vega_gene ENSG00000225156 0 genome.wustl.edu 37 2 45193950 45193950 + RNA SNP C C T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 2 45193950 45193950 C T SNP ENSG00000225156 ENST00000425325 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors AC012354.6 Clone_based_vega_gene ENSG00000227467 0 genome.wustl.edu 37 11 72283564 72283564 + RNA SNP G G T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 11 72283564 72283564 G T SNP ENSG00000227467 ENST00000450804 human ensembl 70_37 +1 known rna NULL NULL 0.057 - - - no_errors RP11-169D4.1 Clone_based_vega_gene ENSG00000229180 0 genome.wustl.edu 37 7 66006483 66006483 + RNA SNP T T C TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 7 66006483 66006483 T C SNP ENSG00000229180 ENST00000449307 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors GS1-124K5.11 Clone_based_vega_gene ENSG00000230817 0 genome.wustl.edu 37 1 83369386 83369386 + RNA SNP G G T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 1 83369386 83369386 G T SNP ENSG00000230817 ENST00000452901 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP4-601K24.1 Clone_based_vega_gene ENSG00000231010 0 genome.wustl.edu 37 22 46453727 46453727 + RNA SNP G G T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 22 46453727 46453727 G T SNP ENSG00000231010 ENST00000439423 human ensembl 70_37 -1 known rna NULL NULL 0.057 - - - no_errors RP6-109B7.2 Clone_based_vega_gene ENSG00000231363 0 genome.wustl.edu 37 1 94713493 94713493 + RNA SNP G G T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 1 94713493 94713493 G T SNP ENSG00000231363 ENST00000413103 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-148B18.1 Clone_based_vega_gene ENSG00000231681 0 genome.wustl.edu 37 7 50242183 50242183 + RNA SNP G G A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 7 50242183 50242183 G A SNP ENSG00000231681 ENST00000457592 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AC020743.3 Clone_based_vega_gene ENSG00000231817 0 genome.wustl.edu 37 13 47032630 47032630 + RNA SNP C C A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 13 47032630 47032630 C A SNP ENSG00000231817 ENST00000595532 human ensembl 70_37 -1 known rna NULL NULL 0.036 - - - no_errors RP11-189B4.6 Clone_based_vega_gene ENSG00000231817 0 genome.wustl.edu 37 13 47032640 47032640 + RNA SNP A A C TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 13 47032640 47032640 A C SNP ENSG00000231817 ENST00000595532 human ensembl 70_37 -1 known rna NULL NULL 0.026 - - - no_errors RP11-189B4.6 Clone_based_vega_gene ENSG00000233365 0 genome.wustl.edu 37 6 166656415 166656415 + RNA SNP C C T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 6 166656415 166656415 C T SNP ENSG00000233365 ENST00000444219 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors RP4-655C5.4 Clone_based_vega_gene ENSG00000233393 0 genome.wustl.edu 37 21 37480191 37480191 + RNA SNP T T A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 21 37480191 37480191 T A SNP ENSG00000233393 ENST00000422473 human ensembl 70_37 +1 known rna NULL NULL 0.351 - - - no_errors AP000688.29 Clone_based_vega_gene ENSG00000233574 0 genome.wustl.edu 37 22 27678528 27678528 + RNA SNP G G T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 22 27678528 27678528 G T SNP ENSG00000233574 ENST00000449126 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors CTA-929C8.5 Clone_based_vega_gene ENSG00000234810 0 genome.wustl.edu 37 1 56197604 56197604 + RNA SNP G G C TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 1 56197604 56197604 G C SNP ENSG00000234810 ENST00000422374 human ensembl 70_37 +1 known rna NULL NULL 0.050 - - - no_errors RP11-466L17.1 Clone_based_vega_gene ENSG00000234928 0 genome.wustl.edu 37 22 23776135 23776135 + RNA SNP G G T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 22 23776135 23776135 G T SNP ENSG00000234928 ENST00000449711 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors AP000344.3 Clone_based_vega_gene ENSG00000235277 0 genome.wustl.edu 37 21 16290862 16290862 + RNA SNP G G T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 21 16290862 16290862 G T SNP ENSG00000235277 ENST00000430391 human ensembl 70_37 +1 known rna NULL NULL 0.933 - - - no_errors AF127577.8 Clone_based_vega_gene ENSG00000236393 0 genome.wustl.edu 37 X 40122191 40122191 + RNA SNP G G C TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 X 40122191 40122191 G C SNP ENSG00000236393 ENST00000452690 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors RP11-320G24.1 Clone_based_vega_gene ENSG00000240529 0 genome.wustl.edu 37 22 31833158 31833158 + RNA SNP G G A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 22 31833158 31833158 G A SNP ENSG00000240529 ENST00000441289 human ensembl 70_37 -1 putative rna NULL NULL 0.001 - - - no_errors RP11-247I13.7 Clone_based_vega_gene ENSG00000244327 0 genome.wustl.edu 37 3 142184164 142184164 + RNA DEL A A - TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 3 142184164 142184164 A - DEL ENSG00000244327 ENST00000460977 human ensembl 70_37 -1 putative rna NULL NULL 0.001 - - - no_errors RP11-383G6.3 Clone_based_vega_gene ENSG00000244513 0 genome.wustl.edu 37 3 69066043 69066043 + RNA SNP G G T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 3 69066043 69066043 G T SNP ENSG00000244513 ENST00000596659 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors CTD-2013N24.2 Clone_based_vega_gene ENSG00000248174 0 genome.wustl.edu 37 4 175018830 175018830 + RNA SNP G G A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 4 175018830 175018830 G A SNP ENSG00000248174 ENST00000515444 human ensembl 70_37 -1 known rna NULL NULL 0.311 - - - no_errors RP11-148L24.1 Clone_based_vega_gene ENSG00000248339 0 genome.wustl.edu 37 4 172214950 172214950 + RNA SNP G G C TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 4 172214950 172214950 G C SNP ENSG00000248339 ENST00000512241 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-717H13.1 Clone_based_vega_gene ENSG00000249364 0 genome.wustl.edu 37 5 67093330 67093330 + RNA SNP C C G TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 5 67093330 67093330 C G SNP ENSG00000249364 ENST00000514368 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-434D9.1 Clone_based_vega_gene ENSG00000249618 0 genome.wustl.edu 37 4 130710090 130710090 + RNA SNP C C A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 4 130710090 130710090 C A SNP ENSG00000249618 ENST00000508724 human ensembl 70_37 +1 known rna NULL NULL 0.994 - - - no_errors RP11-422J15.1 Clone_based_vega_gene ENSG00000250303 0 genome.wustl.edu 37 11 112163036 112163037 + RNA INS - - TTCC TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 11 112163036 112163037 - TTCC INS ENSG00000250303 ENST00000419895 human ensembl 70_37 +1 putative rna NULL NULL 0.000:0.000 - - - no_errors RP11-356J5.12 Clone_based_vega_gene ENSG00000250910 0 genome.wustl.edu 37 4 156250918 156250918 + RNA SNP G G A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 4 156250918 156250918 G A SNP ENSG00000250910 ENST00000508191 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors AC097467.2 Clone_based_vega_gene ENSG00000255026 0 genome.wustl.edu 37 11 288797 288797 + RNA SNP G G A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 11 288797 288797 G A SNP ENSG00000255026 ENST00000525217 human ensembl 70_37 +1 known rna NULL NULL 0.069 - - - no_errors RP11-326C3.2 Clone_based_vega_gene ENSG00000255433 0 genome.wustl.edu 37 11 56638636 56638636 + RNA SNP C C G TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 11 56638636 56638636 C G SNP ENSG00000255433 ENST00000526436 human ensembl 70_37 +1 known rna NULL NULL 0.063 - - - no_errors AP000479.1 Clone_based_vega_gene ENSG00000256512 0 genome.wustl.edu 37 12 27953641 27953642 + RNA INS - - A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 12 27953641 27953642 - A INS ENSG00000256512 ENST00000543527 human ensembl 70_37 -1 known rna NULL NULL 0.002:0.003 - - - no_errors RP11-860B13.3 Clone_based_vega_gene ENSG00000258576 0 genome.wustl.edu 37 14 101054163 101054163 + RNA SNP C C T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 14 101054163 101054163 C T SNP ENSG00000258576 ENST00000554540 human ensembl 70_37 -1 known rna NULL NULL 0.023 - - - no_errors CTD-2644I21.1 Clone_based_vega_gene ENSG00000258776 0 genome.wustl.edu 37 14 57284369 57284369 + RNA SNP G G T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 14 57284369 57284369 G T SNP ENSG00000258776 ENST00000554149 human ensembl 70_37 -1 known rna NULL NULL 0.011 - - - no_errors RP11-1085N6.5 Clone_based_vega_gene ENSG00000259847 0 genome.wustl.edu 37 16 65210098 65210098 + RNA SNP C C G TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 16 65210098 65210098 C G SNP ENSG00000259847 ENST00000562742 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-95H3.1 Clone_based_vega_gene ENSG00000260171 0 genome.wustl.edu 37 2 207686885 207686885 + RNA SNP C C A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 2 207686885 207686885 C A SNP ENSG00000260171 ENST00000561915 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-95H11.1 Clone_based_vega_gene ENSG00000260328 0 genome.wustl.edu 37 17 16917055 16917055 + RNA SNP G G T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 17 16917055 16917055 G T SNP ENSG00000260328 ENST00000562897 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-416I2.1 Clone_based_vega_gene ENSG00000260484 0 genome.wustl.edu 37 8 54301384 54301384 + RNA SNP G G A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 8 54301384 54301384 G A SNP ENSG00000260484 ENST00000566892 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-1081M5.2 Clone_based_vega_gene ENSG00000260544 0 genome.wustl.edu 37 16 32144020 32144020 + RNA SNP T T C TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 16 32144020 32144020 T C SNP ENSG00000260544 ENST00000568083 human ensembl 70_37 +1 known rna NULL NULL 0.003 - - - no_errors RP11-1166P10.9 Clone_based_vega_gene ENSG00000260715 0 genome.wustl.edu 37 16 64189636 64189636 + RNA SNP C C A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 16 64189636 64189636 C A SNP ENSG00000260715 ENST00000565257 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-744D14.2 Clone_based_vega_gene ENSG00000260868 0 genome.wustl.edu 37 2 174891563 174891563 + RNA SNP G G T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 2 174891563 174891563 G T SNP ENSG00000260868 ENST00000563759 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-394I13.1 Clone_based_vega_gene ENSG00000261170 0 genome.wustl.edu 37 16 74456050 74456050 + RNA SNP C C T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 16 74456050 74456050 C T SNP ENSG00000261170 ENST00000566506 human ensembl 70_37 +1 putative rna NULL NULL 0.000 - - - no_errors RP11-252A24.5 Clone_based_vega_gene ENSG00000261254 0 genome.wustl.edu 37 1 100497373 100497373 + RNA SNP C C A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 1 100497373 100497373 C A SNP ENSG00000261254 ENST00000564623 human ensembl 70_37 +1 known rna NULL NULL 0.149 - - - no_errors RP4-714D9.5 Clone_based_vega_gene ENSG00000262772 0 genome.wustl.edu 37 17 77801173 77801173 + RNA SNP C C A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 17 77801173 77801173 C A SNP ENSG00000262772 ENST00000576963 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-353N14.2 Clone_based_vega_gene ENSG00000262966 0 genome.wustl.edu 37 17 9077214 9077214 + RNA SNP G G C TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 17 9077214 9077214 G C SNP ENSG00000262966 ENST00000574307 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-85B7.2 Clone_based_vega_gene ENSG00000263154 0 genome.wustl.edu 37 17 79347579 79347579 + RNA SNP C C T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 17 79347579 79347579 C T SNP ENSG00000263154 ENST00000574472 human ensembl 70_37 +1 putative rna NULL NULL 0.000 - - - no_errors RP11-1055B8.2 Clone_based_vega_gene ENSG00000264629 0 genome.wustl.edu 37 22 23077093 23077093 + RNA SNP C C G TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 22 23077093 23077093 C G SNP ENSG00000264629 ENST00000579613 human ensembl 70_37 +1 novel rna NULL NULL 0.000 - - - no_errors D87007.1 Clone_based_ensembl_gene ENSG00000264629 0 genome.wustl.edu 37 22 23077103 23077103 + RNA SNP C C G TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 22 23077103 23077103 C G SNP ENSG00000264629 ENST00000579613 human ensembl 70_37 +1 novel rna NULL NULL 0.348 - - - no_errors D87007.1 Clone_based_ensembl_gene ENSG00000265413 0 genome.wustl.edu 37 18 8403574 8403575 + RNA INS - - A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 18 8403574 8403575 - A INS ENSG00000265413 ENST00000578897 human ensembl 70_37 +1 known rna NULL NULL 0.002:0.000 - - - no_errors RP11-789C17.1 Clone_based_vega_gene ENSG00000265888 0 genome.wustl.edu 37 18 28742592 28742592 + RNA SNP G G T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 18 28742592 28742592 G T SNP ENSG00000265888 ENST00000581836 human ensembl 70_37 +1 known rna NULL NULL 0.015 - - - no_errors RP11-408H20.2 Clone_based_vega_gene ENSG00000265888 0 genome.wustl.edu 37 18 28742592 28742592 + RNA SNP G G T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 18 28742592 28742592 G T SNP ENSG00000265888 ENST00000581836 human ensembl 70_37 +1 known rna NULL NULL 0.015 - - - no_errors RP11-408H20.2 Clone_based_vega_gene ENSG00000266135 0 genome.wustl.edu 37 7 72312102 72312102 + RNA SNP G G C TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 7 72312102 72312102 G C SNP ENSG00000266135 ENST00000488637 human ensembl 70_37 -1 novel rna NULL NULL 0.015 - - - no_errors Metazoa_SRP RFAM ENSG00000267412 0 genome.wustl.edu 37 19 2611473 2611473 + RNA SNP G G T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 19 2611473 2611473 G T SNP ENSG00000267412 ENST00000590491 human ensembl 70_37 -1 known rna NULL NULL 0.003 - - - no_errors CTC-265F19.2 Clone_based_vega_gene ENSG00000267715 0 genome.wustl.edu 37 19 1485072 1485072 + RNA SNP G G T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 19 1485072 1485072 G T SNP ENSG00000267715 ENST00000585643 human ensembl 70_37 +1 known rna NULL NULL 0.139 - - - no_errors CTB-25B13.6 Clone_based_vega_gene ENSG00000269175 0 genome.wustl.edu 37 1 101456269 101456269 + Missense_Mutation SNP G G T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 1 101456269 101456269 G T SNP ENSG00000269175 ENST00000593496 human ensembl 70_37 +1 known missense c.263 p.S88I 0.004 NULL NULL - no_errors AC093157.1 Clone_based_ensembl_gene EVI5L 115704 genome.wustl.edu 37 19 7911452 7911452 + Silent SNP C C A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 19 7911452 7911452 C A SNP EVI5L ENST00000538904 human ensembl 70_37 +1 known silent c.24 p.P8 0.433 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors EVI5L HGNC FAT1 2195 genome.wustl.edu 37 4 187540216 187540217 + Frame_Shift_Ins INS - - T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 4 187540216 187540217 - T INS FAT1 ENST00000441802 human ensembl 70_37 -1 known frame_shift_ins c.7524_7523 p.H2508fs 0.226:0.788 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT1 HGNC FAT1 2195 genome.wustl.edu 37 4 187540216 187540217 + Frame_Shift_Ins INS - - T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 4 187540216 187540217 - T INS FAT1 ENST00000441802 human ensembl 70_37 -1 known frame_shift_ins c.7524_7523 p.H2508fs 0.226:0.788 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT1 HGNC FAT1 2195 genome.wustl.edu 37 4 187629360 187629360 + Nonsense_Mutation SNP G G C TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 4 187629360 187629360 G C SNP FAT1 ENST00000441802 human ensembl 70_37 -1 known nonsense c.1622 p.S541* 0.999 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT1 HGNC FAT1 2195 genome.wustl.edu 37 4 187629360 187629360 + Nonsense_Mutation SNP G G C TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 4 187629360 187629360 G C SNP FAT1 ENST00000441802 human ensembl 70_37 -1 known nonsense c.1622 p.S541* 0.999 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT1 HGNC FGD5 152273 genome.wustl.edu 37 3 14861478 14861478 + Missense_Mutation SNP G G T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 3 14861478 14861478 G T SNP FGD5 ENST00000285046 human ensembl 70_37 +1 known missense c.900 p.E300D 0.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD5 HGNC FGF3 2248 genome.wustl.edu 37 11 69625367 69625367 + Silent SNP C C T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 11 69625367 69625367 C T SNP FGF3 ENST00000334134 human ensembl 70_37 -1 known silent c.426 p.G142 1.000 pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_GF_heparin-bd,prints_IL1_HBGF - no_errors FGF3 HGNC FLJ33360 401172 genome.wustl.edu 37 5 6312144 6312144 + RNA SNP G G T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 5 6312144 6312144 G T SNP FLJ33360 ENST00000507444 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors CTD-2324F15.2 Clone_based_vega_gene FOXD2 2306 genome.wustl.edu 37 1 47904449 47904449 + Silent SNP C C T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 1 47904449 47904449 C T SNP FOXD2 ENST00000334793 human ensembl 70_37 +1 known silent c.642 p.G214 1.000 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXD2 HGNC GABARAPL1 23710 genome.wustl.edu 37 12 10373281 10373281 + Missense_Mutation SNP C C A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 12 10373281 10373281 C A SNP GABARAPL1 ENST00000421801 human ensembl 70_37 +1 putative missense c.412 p.P138T 0.990 NULL pfam_Atg8_ubiquitin-like,pfam_Autophagy-rel_prot_12 - no_errors GABARAPL1 HGNC GAL3ST2 64090 genome.wustl.edu 37 2 242743053 242743053 + Silent SNP G G T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 2 242743053 242743053 G T SNP GAL3ST2 ENST00000192314 human ensembl 70_37 +1 known silent c.669 p.L223 0.994 pfam_Gal-3-0_sulfotransfrase pfam_Gal-3-0_sulfotransfrase - no_errors GAL3ST2 HGNC GALNTL6 442117 genome.wustl.edu 37 4 172735776 172735776 + Missense_Mutation SNP C C G TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 4 172735776 172735776 C G SNP GALNTL6 ENST00000506823 human ensembl 70_37 +1 known missense c.45 p.F15L 1.000 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNTL6 HGNC GALNTL6 442117 genome.wustl.edu 37 4 172735776 172735776 + Missense_Mutation SNP C C G TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 4 172735776 172735776 C G SNP GALNTL6 ENST00000506823 human ensembl 70_37 +1 known missense c.45 p.F15L 1.000 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNTL6 HGNC GLI3 2737 genome.wustl.edu 37 7 42004984 42004984 + Missense_Mutation SNP C C G TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 7 42004984 42004984 C G SNP GLI3 ENST00000395925 human ensembl 70_37 -1 known missense c.3687 p.L1229F 0.923 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI3 HGNC GLI3 2737 genome.wustl.edu 37 7 42004984 42004984 + Missense_Mutation SNP C C G TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 7 42004984 42004984 C G SNP GLI3 ENST00000395925 human ensembl 70_37 -1 known missense c.3687 p.L1229F 0.923 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI3 HGNC GLRA3 8001 genome.wustl.edu 37 4 175564951 175564951 + Missense_Mutation SNP G G C TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 4 175564951 175564951 G C SNP GLRA3 ENST00000274093 human ensembl 70_37 -1 known missense c.1381 p.Q461E 1.000 superfamily_Neurotrans-gated_channel_TM 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_A3,prints_Glycine_rcpt_A,prints_Neur_channel,tigrfam_Neur_channel - no_errors GLRA3 HGNC GLRA3 8001 genome.wustl.edu 37 4 175564951 175564951 + Missense_Mutation SNP G G C TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 4 175564951 175564951 G C SNP GLRA3 ENST00000274093 human ensembl 70_37 -1 known missense c.1381 p.Q461E 1.000 superfamily_Neurotrans-gated_channel_TM 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_A3,prints_Glycine_rcpt_A,prints_Neur_channel,tigrfam_Neur_channel - no_errors GLRA3 HGNC GPC1 2817 genome.wustl.edu 37 2 241405038 241405038 + Missense_Mutation SNP G G T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 2 241405038 241405038 G T SNP GPC1 ENST00000264039 human ensembl 70_37 +1 known missense c.1417 p.G473C 0.999 pfam_Glypican pfam_Glypican - no_errors GPC1 HGNC GPR98 84059 genome.wustl.edu 37 5 90074397 90074397 + Missense_Mutation SNP G G C TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 5 90074397 90074397 G C SNP GPR98 ENST00000405460 human ensembl 70_37 +1 known missense c.12820 p.E4274Q 0.004 pfam_Calx_beta,smart_Calx_beta pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC GPR98 84059 genome.wustl.edu 37 5 90074397 90074397 + Missense_Mutation SNP G G C TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 5 90074397 90074397 G C SNP GPR98 ENST00000405460 human ensembl 70_37 +1 known missense c.12820 p.E4274Q 0.004 pfam_Calx_beta,smart_Calx_beta pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC GRIN3B 116444 genome.wustl.edu 37 19 1008188 1008188 + Silent SNP C C T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 19 1008188 1008188 C T SNP GRIN3B ENST00000234389 human ensembl 70_37 +1 known silent c.2364 p.S788 0.791 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN3B HGNC GRIN3B 116444 genome.wustl.edu 37 19 1008188 1008188 + Silent SNP C C T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 19 1008188 1008188 C T SNP GRIN3B ENST00000234389 human ensembl 70_37 +1 known silent c.2364 p.S788 0.791 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN3B HGNC GRIP2 80852 genome.wustl.edu 37 3 14533758 14533758 + RNA SNP G G T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 3 14533758 14533758 G T SNP GRIP2 ENST00000273083 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors GRIP2 HGNC HDC 3067 genome.wustl.edu 37 15 50546436 50546436 + Missense_Mutation SNP G G C TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 15 50546436 50546436 G C SNP HDC ENST00000267845 human ensembl 70_37 -1 known missense c.611 p.S204C 1.000 pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase_major_dom pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase_major_dom,prints_Aromatic_deC - no_errors HDC HGNC HDC 3067 genome.wustl.edu 37 15 50546436 50546436 + Missense_Mutation SNP G G C TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 15 50546436 50546436 G C SNP HDC ENST00000267845 human ensembl 70_37 -1 known missense c.611 p.S204C 1.000 pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase_major_dom pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase_major_dom,prints_Aromatic_deC - no_errors HDC HGNC HFM1 164045 genome.wustl.edu 37 1 91731634 91731634 + Missense_Mutation SNP C C A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 1 91731634 91731634 C A SNP HFM1 ENST00000370425 human ensembl 70_37 -1 known missense c.3914 p.R1305M 0.000 NULL pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors HFM1 HGNC HLA-A 3105 genome.wustl.edu 37 6 29910797 29910797 + Nonsense_Mutation SNP G G T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 6 29910797 29910797 G T SNP HLA-A ENST00000376806 human ensembl 70_37 +1 known nonsense c.337 p.E113* 0.722 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2 - no_errors HLA-A HGNC HP09025 100652929 genome.wustl.edu 37 17 77683255 77683255 + RNA SNP A A G TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 17 77683255 77683255 A G SNP HP09025 ENST00000397549 human ensembl 70_37 +1 known rna NULL NULL 0.010 - - - no_errors CTD-2116F7.1 Clone_based_vega_gene HSD17B4 3295 genome.wustl.edu 37 5 118866973 118866973 + Nonsense_Mutation SNP C C T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 5 118866973 118866973 C T SNP HSD17B4 ENST00000256216 human ensembl 70_37 +1 known nonsense c.1867 p.Q623* 1.000 superfamily_SCP2_sterol-bd_dom pfam_MaoC_deHydtase,pfam_DH_sc/Rdtase_SDR,pfam_SCP2_sterol-bd_dom,pfam_PKS_KR,superfamily_SCP2_sterol-bd_dom,smart_PKS/FAS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH - no_errors HSD17B4 HGNC HSD17B4 3295 genome.wustl.edu 37 5 118866973 118866973 + Nonsense_Mutation SNP C C T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 5 118866973 118866973 C T SNP HSD17B4 ENST00000256216 human ensembl 70_37 +1 known nonsense c.1867 p.Q623* 1.000 superfamily_SCP2_sterol-bd_dom pfam_MaoC_deHydtase,pfam_DH_sc/Rdtase_SDR,pfam_SCP2_sterol-bd_dom,pfam_PKS_KR,superfamily_SCP2_sterol-bd_dom,smart_PKS/FAS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH - no_errors HSD17B4 HGNC IGFN1 91156 genome.wustl.edu 37 1 201169419 201169419 + Silent SNP G G A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 1 201169419 201169419 G A SNP IGFN1 ENST00000335211 human ensembl 70_37 +1 known silent c.513 p.L171 0.998 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors IGFN1 HGNC IFNLR1 163702 genome.wustl.edu 37 1 24483816 24483816 + Missense_Mutation SNP G G A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 1 24483816 24483816 G A SNP IL28RA ENST00000327535 human ensembl 70_37 -1 known missense c.1367 p.P456L 0.009 NULL superfamily_Fibronectin_type3 - no_errors IL28RA HGNC IFNLR1 163702 genome.wustl.edu 37 1 24483816 24483816 + Missense_Mutation SNP G G A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 1 24483816 24483816 G A SNP IL28RA ENST00000327535 human ensembl 70_37 -1 known missense c.1367 p.P456L 0.009 NULL superfamily_Fibronectin_type3 - no_errors IL28RA HGNC ING5 84289 genome.wustl.edu 37 2 242660352 242660352 + RNA SNP G G T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 2 242660352 242660352 G T SNP ING5 ENST00000482774 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors ING5 HGNC IQGAP3 128239 genome.wustl.edu 37 1 156534463 156534463 + Silent SNP C C T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 1 156534463 156534463 C T SNP IQGAP3 ENST00000361170 human ensembl 70_37 -1 known silent c.381 p.T127 0.120 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_RasGAP - no_errors IQGAP3 HGNC IQGAP3 128239 genome.wustl.edu 37 1 156534463 156534463 + Silent SNP C C T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 1 156534463 156534463 C T SNP IQGAP3 ENST00000361170 human ensembl 70_37 -1 known silent c.381 p.T127 0.120 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_RasGAP - no_errors IQGAP3 HGNC ITGAE 3682 genome.wustl.edu 37 17 3658411 3658411 + Missense_Mutation SNP C C T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 17 3658411 3658411 C T SNP ITGAE ENST00000263087 human ensembl 70_37 -1 known missense c.1384 p.G462S 1.000 smart_Int_alpha_beta-p,prints_Integrin_alpha pfam_Integrin_alpha-2,pfam_VWF_A,pfam_Integrin_alpha_C_CS,smart_VWF_A,smart_Int_alpha_beta-p,prints_Integrin_alpha,pfscan_VWF_A - no_errors ITGAE HGNC ITGAX 3687 genome.wustl.edu 37 16 31382737 31382737 + Nonsense_Mutation SNP C C T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 16 31382737 31382737 C T SNP ITGAX ENST00000268296 human ensembl 70_37 +1 known nonsense c.1924 p.Q642* 0.003 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGAX HGNC ITGAX 3687 genome.wustl.edu 37 16 31382737 31382737 + Nonsense_Mutation SNP C C T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 16 31382737 31382737 C T SNP ITGAX ENST00000268296 human ensembl 70_37 +1 known nonsense c.1924 p.Q642* 0.003 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGAX HGNC KCNT2 343450 genome.wustl.edu 37 1 196195007 196195007 + RNA SNP G G T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 1 196195007 196195007 G T SNP KCNT2 ENST00000498426 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors KCNT2 HGNC LAMB2 3913 genome.wustl.edu 37 3 49160390 49160390 + Silent SNP G G C TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 3 49160390 49160390 G C SNP LAMB2 ENST00000305544 human ensembl 70_37 -1 known silent c.4320 p.L1440 0.998 NULL pfam_EGF_laminin,pfam_Laminin_N,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB2 HGNC LAMB2 3913 genome.wustl.edu 37 3 49160390 49160390 + Silent SNP G G C TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 3 49160390 49160390 G C SNP LAMB2 ENST00000305544 human ensembl 70_37 -1 known silent c.4320 p.L1440 0.998 NULL pfam_EGF_laminin,pfam_Laminin_N,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB2 HGNC LAMB2 3913 genome.wustl.edu 37 3 49161416 49161416 + Missense_Mutation SNP G G A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 3 49161416 49161416 G A SNP LAMB2 ENST00000305544 human ensembl 70_37 -1 known missense c.3542 p.S1181L 1.000 pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom,pfscan_EGF_laminin pfam_EGF_laminin,pfam_Laminin_N,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB2 HGNC LATS2 26524 genome.wustl.edu 37 13 21562747 21562747 + Missense_Mutation SNP C C T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 13 21562747 21562747 C T SNP LATS2 ENST00000382592 human ensembl 70_37 -1 known missense c.1172 p.R391H 0.271 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom - no_errors LATS2 HGNC LINC00473 90632 genome.wustl.edu 37 6 166401487 166401487 + RNA SNP G G C TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 6 166401487 166401487 G C SNP LINC00473 ENST00000455853 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors LINC00473 HGNC LOC100505875 100505875 genome.wustl.edu 37 4 80148524 80148524 + RNA SNP C C G TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 4 80148524 80148524 C G SNP LOC100505875 ENST00000507761 human ensembl 70_37 +1 known rna NULL NULL 0.292 - - - no_errors RP11-438E5.1 Clone_based_vega_gene LOC100507250 100507250 genome.wustl.edu 37 12 69079501 69079501 + RNA SNP G G A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 12 69079501 69079501 G A SNP LOC100507250 ENST00000433116 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-637A17.2 Clone_based_vega_gene LOC100996269 100996269 genome.wustl.edu 37 7 1499645 1499645 + RNA SNP G G A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 7 1499645 1499645 G A SNP LOC100996269 ENST00000445345 human ensembl 70_37 +1 known rna NULL NULL 0.023 - - - no_errors AC102953.4 Clone_based_vega_gene LOC100996381 100996381 genome.wustl.edu 37 19 24246697 24246697 + RNA SNP G G A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 19 24246697 24246697 G A SNP LOC100996381 ENST00000597683 human ensembl 70_37 +1 known rna NULL NULL 0.009 - - - no_errors CTD-2017D11.1 Clone_based_vega_gene LOC100996554 100996554 genome.wustl.edu 37 1 243251118 243251118 + RNA SNP G G T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 1 243251118 243251118 G T SNP LOC100996554 ENST00000435840 human ensembl 70_37 -1 known rna NULL NULL 0.344 - - - no_errors RP11-261C10.3 Clone_based_vega_gene LOC643837 643837 genome.wustl.edu 37 1 792871 792871 + RNA SNP A A T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 1 792871 792871 A T SNP LOC643837 ENST00000445118 human ensembl 70_37 +1 known rna NULL NULL 0.336 - - - no_errors RP11-206L10.11 Clone_based_vega_gene LOC84856 84856 genome.wustl.edu 37 10 42989654 42989654 + RNA SNP C C A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 10 42989654 42989654 C A SNP LOC84856 ENST00000332123 human ensembl 70_37 +1 known rna NULL NULL 0.009 - - - no_errors RP11-178A10.1 Clone_based_vega_gene LOC93622 93622 genome.wustl.edu 37 4 6676121 6676121 + RNA SNP G G T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 4 6676121 6676121 G T SNP LOC93622 ENST00000307533 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors AC093323.3 Clone_based_vega_gene LUZP2 338645 genome.wustl.edu 37 11 25004778 25004778 + Missense_Mutation SNP G G T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 11 25004778 25004778 G T SNP LUZP2 ENST00000336930 human ensembl 70_37 +1 known missense c.704 p.R235L 0.984 NULL NULL - no_errors LUZP2 HGNC MALAT1 378938 genome.wustl.edu 37 11 65266070 65266070 + RNA SNP C C T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 11 65266070 65266070 C T SNP MALAT1 ENST00000534336 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors MALAT1 HGNC MAPK7 5598 genome.wustl.edu 37 17 19286539 19286539 + Missense_Mutation SNP C C T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 17 19286539 19286539 C T SNP MAPK7 ENST00000308406 human ensembl 70_37 +1 known missense c.2446 p.P816S 0.998 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 MAPK7 HGNC MARCH11 441061 genome.wustl.edu 37 5 16067780 16067780 + Missense_Mutation SNP C C G TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 5 16067780 16067780 C G SNP MARCH11 ENST00000332432 human ensembl 70_37 -1 known missense c.1009 p.E337Q 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH - no_errors MARCH11 HGNC MARCH11 441061 genome.wustl.edu 37 5 16067780 16067780 + Missense_Mutation SNP C C G TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 5 16067780 16067780 C G SNP MARCH11 ENST00000332432 human ensembl 70_37 -1 known missense c.1009 p.E337Q 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH - no_errors MARCH11 HGNC METTL21A 151194 genome.wustl.edu 37 2 208476955 208476955 + RNA SNP C C A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 2 208476955 208476955 C A SNP METTL21A ENST00000477919 human ensembl 70_37 -1 putative rna NULL NULL 0.084 - - - no_errors METTL21A HGNC MIR17HG 407975 genome.wustl.edu 37 13 92003784 92003784 + RNA SNP C C G TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 13 92003784 92003784 C G SNP MIR17HG ENST00000581816 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors MIR17HG HGNC MIR558 693143 genome.wustl.edu 37 2 32757248 32757248 + RNA SNP G G T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 2 32757248 32757248 G T SNP MIR558 ENST00000384920 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors MIR558 HGNC MIR558 693143 genome.wustl.edu 37 2 32757248 32757248 + RNA SNP G G T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 2 32757248 32757248 G T SNP MIR558 ENST00000384920 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors MIR558 HGNC MMP12 4321 genome.wustl.edu 37 11 102738638 102738638 + Splice_Site SNP C C A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 11 102738638 102738638 C A SNP MMP12 ENST00000326227 human ensembl 70_37 -1 known splice_site c.NULL NULL 1.000 - - - no_errors MMP12 HGNC MMP20 9313 genome.wustl.edu 37 11 102479695 102479695 + Missense_Mutation SNP C C A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 11 102479695 102479695 C A SNP MMP20 ENST00000260228 human ensembl 70_37 -1 known missense c.784 p.D262Y 1.000 pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin pfam_Pept_M10_metallopeptidase,pfam_Hemopexin/matrixin_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin - no_errors MMP20 HGNC MON2 23041 genome.wustl.edu 37 12 62864489 62864489 + Missense_Mutation SNP G G C TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 12 62864489 62864489 G C SNP MON2 ENST00000547095 human ensembl 70_37 +1 known missense c.120 p.M40I 0.000 NULL NULL - no_errors MON2 HGNC MPP7 143098 genome.wustl.edu 37 10 28341768 28341768 + RNA SNP C C T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 10 28341768 28341768 C T SNP MPP7 ENST00000496637 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors MPP7 HGNC MSH6 2956 genome.wustl.edu 37 2 48012058 48012058 + RNA SNP G G C TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 2 48012058 48012058 G C SNP MSH6 ENST00000493177 human ensembl 70_37 +1 putative rna NULL NULL 0.167 - - - no_errors MSH6 HGNC MUC12 10071 genome.wustl.edu 37 7 100646670 100646670 + Missense_Mutation SNP C C A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 7 100646670 100646670 C A SNP MUC12 ENST00000379442 human ensembl 70_37 +1 known missense c.13255 p.H4419N 0.001 NULL pfam_SEA - no_errors MUC12 HGNC NBPF11 200030 genome.wustl.edu 37 1 146055349 146055349 + Missense_Mutation SNP G G A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 1 146055349 146055349 G A SNP NBPF11 ENST00000339388 human ensembl 70_37 -1 known missense c.274 p.L92F 0.060 NULL pfam_NBPF_dom,superfamily_Secretoglobin - no_errors NBPF11 HGNC NEB 4703 genome.wustl.edu 37 2 152586147 152586147 + Silent SNP G G A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 2 152586147 152586147 G A SNP NEB ENST00000397345 human ensembl 70_37 -1 known silent c.60 p.Y20 0.150 NULL pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC NEB 4703 genome.wustl.edu 37 2 152586147 152586147 + Silent SNP G G A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 2 152586147 152586147 G A SNP NEB ENST00000397345 human ensembl 70_37 -1 known silent c.60 p.Y20 0.150 NULL pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC NEURL4 84461 genome.wustl.edu 37 17 7227237 7227237 + Missense_Mutation SNP G G T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 17 7227237 7227237 G T SNP NEURL4 ENST00000399464 human ensembl 70_37 -1 known missense c.2157 p.F719L 1.000 pfam_Neu_Z,smart_Neu_Z,pfscan_Neu_Z pfam_Neu_Z,superfamily_ConA-like_lec_gl_sf,smart_Neu_Z,pfscan_Neu_Z - no_errors NEURL4 HGNC NLRP1 22861 genome.wustl.edu 37 17 5424312 5424312 + Missense_Mutation SNP C C A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 17 5424312 5424312 C A SNP NLRP1 ENST00000572272 human ensembl 70_37 -1 known missense c.3804 p.M1268I 0.021 NULL pfam_CARD,pfam_DAPIN,pfam_Leu-rich_rpt,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD,pfscan_DAPIN,prints_Disease_R - no_errors NLRP1 HGNC NLRP1 22861 genome.wustl.edu 37 17 5485360 5485360 + Silent SNP G G A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 17 5485360 5485360 G A SNP NLRP1 ENST00000572272 human ensembl 70_37 -1 known silent c.471 p.Y157 0.012 NULL pfam_CARD,pfam_DAPIN,pfam_Leu-rich_rpt,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD,pfscan_DAPIN,prints_Disease_R - no_errors NLRP1 HGNC NLRP1 22861 genome.wustl.edu 37 17 5485360 5485360 + Silent SNP G G A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 17 5485360 5485360 G A SNP NLRP1 ENST00000572272 human ensembl 70_37 -1 known silent c.471 p.Y157 0.012 NULL pfam_CARD,pfam_DAPIN,pfam_Leu-rich_rpt,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD,pfscan_DAPIN,prints_Disease_R - no_errors NLRP1 HGNC NLRP6 171389 genome.wustl.edu 37 11 280449 280449 + Nonsense_Mutation SNP G G T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 11 280449 280449 G T SNP NLRP6 ENST00000312165 human ensembl 70_37 +1 known nonsense c.715 p.E239* 0.383 pfscan_NACHT_NTPase pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP6 HGNC NOTCH1 4851 genome.wustl.edu 37 9 139393593 139393594 + Frame_Shift_Ins INS - - A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 9 139393593 139393594 - A INS NOTCH1 ENST00000277541 human ensembl 70_37 -1 known frame_shift_ins c.6053_6052 p.H2018fs 0.998:0.998 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_EG-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom - no_errors NOTCH1 HGNC NOTCH1 4851 genome.wustl.edu 37 9 139393593 139393594 + Frame_Shift_Ins INS - - A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 9 139393593 139393594 - A INS NOTCH1 ENST00000277541 human ensembl 70_37 -1 known frame_shift_ins c.6053_6052 p.H2018fs 0.998:0.998 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_EG-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom - no_errors NOTCH1 HGNC ODF3L2 284451 genome.wustl.edu 37 19 474621 474621 + Missense_Mutation SNP C C A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 19 474621 474621 C A SNP ODF3L2 ENST00000315489 human ensembl 70_37 -1 known missense c.127 p.G43C 0.398 NULL pfam_SHIPPO-rpt - no_errors ODF3L2 HGNC OLFM3 118427 genome.wustl.edu 37 1 102290786 102290786 + Missense_Mutation SNP T T A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 1 102290786 102290786 T A SNP OLFM3 ENST00000338858 human ensembl 70_37 -1 known missense c.448 p.M150L 1.000 superfamily_Quino_amine_DH_bsu pfam_Olfac-like,pfam_Noelin-1,superfamily_Quino_amine_DH_bsu,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFM3 HGNC OR51C1P 401661 genome.wustl.edu 37 11 4712242 4712242 + Missense_Mutation SNP C C A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 11 4712242 4712242 C A SNP OR51C1P ENST00000357764 human ensembl 70_37 -1 known missense c.685 p.A229S 0.529 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_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51C1P HGNC OR51D1 390038 genome.wustl.edu 37 11 4661675 4661675 + Missense_Mutation SNP G G T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 11 4661675 4661675 G T SNP OR51D1 ENST00000357605 human ensembl 70_37 +1 known missense c.655 p.V219F 0.880 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51D1 HGNC OR6B1 135946 genome.wustl.edu 37 7 143701486 143701486 + Missense_Mutation SNP C C A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 7 143701486 143701486 C A SNP OR6B1 ENST00000408922 human ensembl 70_37 +1 known missense c.397 p.P133T 0.534 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6B1 HGNC OTUD4 54726 genome.wustl.edu 37 4 146059410 146059410 + Silent SNP C C T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 4 146059410 146059410 C T SNP OTUD4 ENST00000447906 human ensembl 70_37 -1 known silent c.2517 p.Q839 0.112 NULL pfam_OTU,pfscan_OTU - no_errors OTUD4 HGNC OTUD4 54726 genome.wustl.edu 37 4 146059410 146059410 + Silent SNP C C T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 4 146059410 146059410 C T SNP OTUD4 ENST00000447906 human ensembl 70_37 -1 known silent c.2517 p.Q839 0.112 NULL pfam_OTU,pfscan_OTU - no_errors OTUD4 HGNC P2RX3 5024 genome.wustl.edu 37 11 57108108 57108108 + RNA SNP C C A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 11 57108108 57108108 C A SNP P2RX3 ENST00000533436 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors P2RX3 HGNC PAOX 196743 genome.wustl.edu 37 10 135195106 135195106 + Missense_Mutation SNP G G C TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 10 135195106 135195106 G C SNP PAOX ENST00000278060 human ensembl 70_37 +1 known missense c.811 p.E271Q 1.000 pfam_Amino_oxidase pfam_Amino_oxidase - no_errors PAOX HGNC PAOX 196743 genome.wustl.edu 37 10 135195106 135195106 + Missense_Mutation SNP G G C TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 10 135195106 135195106 G C SNP PAOX ENST00000278060 human ensembl 70_37 +1 known missense c.811 p.E271Q 1.000 pfam_Amino_oxidase pfam_Amino_oxidase - no_errors PAOX HGNC PATZ1 23598 genome.wustl.edu 37 22 31741282 31741282 + Missense_Mutation SNP C C G TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 22 31741282 31741282 C G SNP PATZ1 ENST00000266269 human ensembl 70_37 -1 known missense c.307 p.E103Q 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors PATZ1 HGNC PATZ1 23598 genome.wustl.edu 37 22 31741282 31741282 + Missense_Mutation SNP C C G TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 22 31741282 31741282 C G SNP PATZ1 ENST00000266269 human ensembl 70_37 -1 known missense c.307 p.E103Q 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors PATZ1 HGNC PCDHA9 9752 genome.wustl.edu 37 5 140228212 140228212 + Silent SNP C C T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 5 140228212 140228212 C T SNP PCDHA9 ENST00000532602 human ensembl 70_37 +1 known silent c.132 p.F44 0.897 pfam_Cadherin_N,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA9 HGNC PCDHA9 9752 genome.wustl.edu 37 5 140228212 140228212 + Silent SNP C C T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 5 140228212 140228212 C T SNP PCDHA9 ENST00000532602 human ensembl 70_37 +1 known silent c.132 p.F44 0.897 pfam_Cadherin_N,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA9 HGNC PDS5A 23244 genome.wustl.edu 37 4 39850476 39850476 + Missense_Mutation SNP C C T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 4 39850476 39850476 C T SNP PDS5A ENST00000303538 human ensembl 70_37 -1 known missense c.3334 p.E1112K 1.000 NULL superfamily_ARM-type_fold - no_errors PDS5A HGNC PGBD5 79605 genome.wustl.edu 37 1 230486821 230486821 + Silent SNP C C T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 1 230486821 230486821 C T SNP PGBD5 ENST00000321327 human ensembl 70_37 -1 known silent c.867 p.L289 1.000 NULL NULL - no_errors PGBD5 HGNC PHKG2 5261 genome.wustl.edu 37 16 30768370 30768370 + Silent SNP A A C TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 16 30768370 30768370 A C SNP PHKG2 ENST00000563588 human ensembl 70_37 +1 known silent c.1173 p.G391 0.316 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,prints_Phosph_kin_gamma,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PHKG2 HGNC PHTF1 10745 genome.wustl.edu 37 1 114254388 114254388 + Nonsense_Mutation SNP C C A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 1 114254388 114254388 C A SNP PHTF1 ENST00000369604 human ensembl 70_37 -1 known nonsense c.1027 p.E343* 1.000 NULL pfam_TF_homeodomain_male - no_errors PHTF1 HGNC PLEKHA2 59339 genome.wustl.edu 37 8 38830302 38830302 + RNA SNP A A T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 8 38830302 38830302 A T SNP PLEKHA2 ENST00000388745 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors PLEKHA2 HGNC POLR3E 55718 genome.wustl.edu 37 16 22343428 22343428 + Silent SNP C C G TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 16 22343428 22343428 C G SNP POLR3E ENST00000299853 human ensembl 70_37 +1 known silent c.1992 p.R664 0.998 NULL pfam_RNA_pol_III_Rpc5 - no_errors POLR3E HGNC POLR3E 55718 genome.wustl.edu 37 16 22343428 22343428 + Silent SNP C C G TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 16 22343428 22343428 C G SNP POLR3E ENST00000299853 human ensembl 70_37 +1 known silent c.1992 p.R664 0.998 NULL pfam_RNA_pol_III_Rpc5 - no_errors POLR3E HGNC POLRMT 5442 genome.wustl.edu 37 19 617576 617576 + Missense_Mutation SNP C C A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 19 617576 617576 C A SNP POLRMT ENST00000588649 human ensembl 70_37 -1 known missense c.3620 p.C1207F 1.000 pfam_DNA-dir_Rpol_phage-type pfam_DNA-dir_Rpol_phage-type - no_errors POLRMT HGNC PPL 5493 genome.wustl.edu 37 16 4936024 4936024 + Missense_Mutation SNP C C G TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 16 4936024 4936024 C G SNP PPL ENST00000345988 human ensembl 70_37 -1 known missense c.2632 p.E878Q 0.610 NULL pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors PPL HGNC PPL 5493 genome.wustl.edu 37 16 4936024 4936024 + Missense_Mutation SNP C C G TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 16 4936024 4936024 C G SNP PPL ENST00000345988 human ensembl 70_37 -1 known missense c.2632 p.E878Q 0.610 NULL pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors PPL HGNC PPP1R12A 4659 genome.wustl.edu 37 12 80201041 80201042 + Frame_Shift_Ins INS - - T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 12 80201041 80201042 - T INS PPP1R12A ENST00000261207 human ensembl 70_37 -1 known frame_shift_ins c.1620_1619 p.N540fs 1.000:1.000 pirsf_Pase-1_reg_su_12A/B/C_euk pirsf_Pase-1_reg_su_12A/B/C_euk,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors PPP1R12A HGNC PPP2R1B 5519 genome.wustl.edu 37 11 111635535 111635535 + Silent SNP A A G TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 11 111635535 111635535 A G SNP PPP2R1B ENST00000311129 human ensembl 70_37 -1 known silent c.300 p.C100 1.000 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors PPP2R1B HGNC PPP2R1B 5519 genome.wustl.edu 37 11 111635535 111635535 + Silent SNP A A G TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 11 111635535 111635535 A G SNP PPP2R1B ENST00000311129 human ensembl 70_37 -1 known silent c.300 p.C100 1.000 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors PPP2R1B HGNC PRG4 10216 genome.wustl.edu 37 1 186277493 186277493 + Missense_Mutation SNP C C T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 1 186277493 186277493 C T SNP PRG4 ENST00000445192 human ensembl 70_37 +1 known missense c.2642 p.S881F 0.288 NULL pfam_Somatomedin_B_dom,pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Somatomedin_B_dom,smart_Hemopexin/matrixin_repeat,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata - no_errors PRG4 HGNC PRG4 10216 genome.wustl.edu 37 1 186277493 186277493 + Missense_Mutation SNP C C T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 1 186277493 186277493 C T SNP PRG4 ENST00000445192 human ensembl 70_37 +1 known missense c.2642 p.S881F 0.288 NULL pfam_Somatomedin_B_dom,pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Somatomedin_B_dom,smart_Hemopexin/matrixin_repeat,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata - no_errors PRG4 HGNC PRG4 10216 genome.wustl.edu 37 1 186277798 186277798 + Missense_Mutation SNP C C T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 1 186277798 186277798 C T SNP PRG4 ENST00000445192 human ensembl 70_37 +1 known missense c.2947 p.P983S 0.104 NULL pfam_Somatomedin_B_dom,pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Somatomedin_B_dom,smart_Hemopexin/matrixin_repeat,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata - no_errors PRG4 HGNC PRG4 10216 genome.wustl.edu 37 1 186277798 186277798 + Missense_Mutation SNP C C T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 1 186277798 186277798 C T SNP PRG4 ENST00000445192 human ensembl 70_37 +1 known missense c.2947 p.P983S 0.104 NULL pfam_Somatomedin_B_dom,pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Somatomedin_B_dom,smart_Hemopexin/matrixin_repeat,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata - no_errors PRG4 HGNC PRRC2B 84726 genome.wustl.edu 37 9 134353258 134353258 + Missense_Mutation SNP G G A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 9 134353258 134353258 G A SNP PRRC2B ENST00000357304 human ensembl 70_37 +1 known missense c.4534 p.E1512K 0.991 NULL pfam_BAT2_N - no_errors PRRC2B HGNC PRRC2B 84726 genome.wustl.edu 37 9 134353258 134353258 + Missense_Mutation SNP G G A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 9 134353258 134353258 G A SNP PRRC2B ENST00000357304 human ensembl 70_37 +1 known missense c.4534 p.E1512K 0.991 NULL pfam_BAT2_N - no_errors PRRC2B HGNC PTOV1-AS1 100506033 genome.wustl.edu 37 19 50354091 50354091 + RNA SNP G G A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 19 50354091 50354091 G A SNP PTOV1-AS1 ENST00000600742 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors PTOV1-AS1 HGNC PXN 5829 genome.wustl.edu 37 12 120650348 120650348 + Silent SNP G G A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 12 120650348 120650348 G A SNP PXN ENST00000267257 human ensembl 70_37 -1 known silent c.1587 p.F529 0.510 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM,prints_Paxillin - no_errors PXN HGNC PXN 5829 genome.wustl.edu 37 12 120650348 120650348 + Silent SNP G G A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 12 120650348 120650348 G A SNP PXN ENST00000267257 human ensembl 70_37 -1 known silent c.1587 p.F529 0.510 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM,prints_Paxillin - no_errors PXN HGNC PYURF 100996939 genome.wustl.edu 37 4 89443102 89443102 + Missense_Mutation SNP C C T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 4 89443102 89443102 C T SNP PYURF ENST00000273968 human ensembl 70_37 -1 known missense c.282 p.M94I 1.000 NULL pfam_UPF0434/Trm112 - no_errors PYURF HGNC QRICH2 84074 genome.wustl.edu 37 17 74288410 74288410 + Missense_Mutation SNP C C T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 17 74288410 74288410 C T SNP QRICH2 ENST00000262765 human ensembl 70_37 -1 known missense c.1900 p.G634S 0.007 NULL NULL - no_errors QRICH2 HGNC RANBP2 5903 genome.wustl.edu 37 2 109347309 109347309 + Missense_Mutation SNP G G A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 2 109347309 109347309 G A SNP RANBP2 ENST00000283195 human ensembl 70_37 +1 known missense c.220 p.E74K 1.000 pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_Ran_bind_dom,pfam_Znf_RanBP2,pfam_IR1-M,pfam_Cyclophilin-like_PPIase_dom,pfam_TPR-1,superfamily_Cyclophilin-like_PPIase_dom,smart_TPR_repeat,smart_Ran_bind_dom,smart_Znf_RanBP2,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RanBP2,pfscan_Cyclophilin-like_PPIase_dom,pfscan_Ran_bind_dom,prints_Cyclophilin-like_PPIase_dom - no_errors RANBP2 HGNC RANBP2 5903 genome.wustl.edu 37 2 109347309 109347309 + Missense_Mutation SNP G G A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 2 109347309 109347309 G A SNP RANBP2 ENST00000283195 human ensembl 70_37 +1 known missense c.220 p.E74K 1.000 pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_Ran_bind_dom,pfam_Znf_RanBP2,pfam_IR1-M,pfam_Cyclophilin-like_PPIase_dom,pfam_TPR-1,superfamily_Cyclophilin-like_PPIase_dom,smart_TPR_repeat,smart_Ran_bind_dom,smart_Znf_RanBP2,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RanBP2,pfscan_Cyclophilin-like_PPIase_dom,pfscan_Ran_bind_dom,prints_Cyclophilin-like_PPIase_dom - no_errors RANBP2 HGNC RB1CC1 9821 genome.wustl.edu 37 8 53626647 53626647 + Missense_Mutation SNP C C T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 8 53626647 53626647 C T SNP RB1CC1 ENST00000518211 human ensembl 70_37 -1 known missense c.47 p.G16E 1.000 NULL NULL - no_errors RB1CC1 HGNC RBMXL2 27288 genome.wustl.edu 37 11 7110706 7110706 + Missense_Mutation SNP C C T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 11 7110706 7110706 C T SNP RBMXL2 ENST00000306904 human ensembl 70_37 +1 known missense c.355 p.R119W 0.415 NULL pfam_RRM_dom,pfam_RBM1CTR,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom - no_errors RBMXL2 HGNC RCAN2 10231 genome.wustl.edu 37 6 46424540 46424540 + Silent SNP C C T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 6 46424540 46424540 C T SNP RCAN2 ENST00000306764 human ensembl 70_37 -1 known silent c.174 p.S58 0.035 NULL pfam_Calcipressin - no_errors RCAN2 HGNC RELN 5649 genome.wustl.edu 37 7 103268373 103268373 + RNA SNP C C T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 7 103268373 103268373 C T SNP RELN ENST00000473457 human ensembl 70_37 -1 putative rna NULL NULL 1.000 - - - no_errors RELN HGNC RET 5979 genome.wustl.edu 37 10 43609028 43609028 + Missense_Mutation SNP A A C TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 10 43609028 43609028 A C SNP RET ENST00000355710 human ensembl 70_37 +1 known missense c.1784 p.E595A 0.998 pirsf_Tyr_kinase_Ret_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Cadherin,superfamily_Kinase-like_dom,superfamily_Cadherin-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_Ret_rcpt,pfscan_Prot_kinase_cat_dom,pfscan_Cadherin,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors RET HGNC RFFL 117584 genome.wustl.edu 37 17 33348478 33348478 + Missense_Mutation SNP C C A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 17 33348478 33348478 C A SNP RFFL ENST00000315249 human ensembl 70_37 -1 known missense c.503 p.S168I 1.000 NULL superfamily_Znf_FYVE_PHD,smart_Znf_RING,pfscan_Znf_RING - no_errors RFFL HGNC RFFL 117584 genome.wustl.edu 37 17 33348478 33348478 + Missense_Mutation SNP C C A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 17 33348478 33348478 C A SNP RFFL ENST00000315249 human ensembl 70_37 -1 known missense c.503 p.S168I 1.000 NULL superfamily_Znf_FYVE_PHD,smart_Znf_RING,pfscan_Znf_RING - no_errors RFFL HGNC RNF141 50862 genome.wustl.edu 37 11 10546848 10546848 + Missense_Mutation SNP C C A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 11 10546848 10546848 C A SNP RNF141 ENST00000265981 human ensembl 70_37 -1 known missense c.325 p.D109Y 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF141 HGNC RNF149 284996 genome.wustl.edu 37 2 101911471 101911471 + Missense_Mutation SNP C C A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 2 101911471 101911471 C A SNP RNF149 ENST00000295317 human ensembl 70_37 -1 known missense c.633 p.M211I 1.000 NULL pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF149 HGNC RNU1-2 26870 genome.wustl.edu 37 1 17222572 17222572 + RNA SNP C C T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 1 17222572 17222572 C T SNP RNU1-2 ENST00000384278 human ensembl 70_37 +1 known rna NULL NULL 0.989 - - - no_errors RNU1-2 HGNC RPTOR 57521 genome.wustl.edu 37 17 78939906 78939906 + RNA SNP G G A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 17 78939906 78939906 G A SNP RPTOR ENST00000575542 human ensembl 70_37 +1 known rna NULL NULL 0.006 - - - no_errors RPTOR HGNC RSBN1L-AS1 100505854 genome.wustl.edu 37 7 77313371 77313371 + RNA SNP C C T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 7 77313371 77313371 C T SNP RSBN1L-AS1 ENST00000416650 human ensembl 70_37 -1 putative rna NULL NULL 0.074 - - - no_errors RSBN1L-AS1 HGNC SDHB 6390 genome.wustl.edu 37 1 17349636 17349636 + RNA SNP T T A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 1 17349636 17349636 T A SNP SDHB ENST00000475049 human ensembl 70_37 -1 known rna NULL NULL 0.004 - - - no_errors SDHB HGNC SEMA4B 10509 genome.wustl.edu 37 15 90766915 90766915 + Missense_Mutation SNP G G T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 15 90766915 90766915 G T SNP SEMA4B ENST00000332496 human ensembl 70_37 +1 known missense c.986 p.S329I 0.647 pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag - no_errors SEMA4B HGNC SEMA6A 57556 genome.wustl.edu 37 5 115808598 115808598 + Missense_Mutation SNP G G T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 5 115808598 115808598 G T SNP SEMA6A ENST00000257414 human ensembl 70_37 -1 known missense c.1763 p.S588Y 1.000 NULL pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag - no_errors SEMA6A HGNC SERPINB6 5269 genome.wustl.edu 37 6 2955781 2955781 + Missense_Mutation SNP C C T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 6 2955781 2955781 C T SNP SERPINB6 ENST00000335686 human ensembl 70_37 -1 known missense c.289 p.E97K 0.998 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINB6 HGNC SIRT6 51548 genome.wustl.edu 37 19 4174895 4174895 + Missense_Mutation SNP T T G TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 19 4174895 4174895 T G SNP SIRT6 ENST00000337491 human ensembl 70_37 -1 known missense c.787 p.T263P 0.474 pfscan_Ssirtuin_cat_dom pfam_Sirtuin,pfscan_Ssirtuin_cat_dom - no_errors SIRT6 HGNC SIRT6 51548 genome.wustl.edu 37 19 4174895 4174895 + Missense_Mutation SNP T T G TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 19 4174895 4174895 T G SNP SIRT6 ENST00000337491 human ensembl 70_37 -1 known missense c.787 p.T263P 0.474 pfscan_Ssirtuin_cat_dom pfam_Sirtuin,pfscan_Ssirtuin_cat_dom - no_errors SIRT6 HGNC SIX3 6496 genome.wustl.edu 37 2 45169642 45169642 + Silent SNP C C A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 2 45169642 45169642 C A SNP SIX3 ENST00000260653 human ensembl 70_37 +1 known silent c.399 p.R133 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors SIX3 HGNC SLC30A6 55676 genome.wustl.edu 37 2 32432000 32432000 + Missense_Mutation SNP G G C TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 2 32432000 32432000 G C SNP SLC30A6 ENST00000282587 human ensembl 70_37 +1 known missense c.814 p.E272Q 1.000 pfam_Cation_efflux,tigrfam_Cation_efflux pfam_Cation_efflux,tigrfam_Cation_efflux - no_errors SLC30A6 HGNC SLC30A6 55676 genome.wustl.edu 37 2 32432000 32432000 + Missense_Mutation SNP G G C TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 2 32432000 32432000 G C SNP SLC30A6 ENST00000282587 human ensembl 70_37 +1 known missense c.814 p.E272Q 1.000 pfam_Cation_efflux,tigrfam_Cation_efflux pfam_Cation_efflux,tigrfam_Cation_efflux - no_errors SLC30A6 HGNC SLITRK5 26050 genome.wustl.edu 37 13 88328010 88328010 + Missense_Mutation SNP G G A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 13 88328010 88328010 G A SNP SLITRK5 ENST00000325089 human ensembl 70_37 +1 known missense c.367 p.G123R 0.999 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK5 HGNC SLITRK5 26050 genome.wustl.edu 37 13 88328010 88328010 + Missense_Mutation SNP G G A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 13 88328010 88328010 G A SNP SLITRK5 ENST00000325089 human ensembl 70_37 +1 known missense c.367 p.G123R 0.999 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK5 HGNC SLURP1 57152 genome.wustl.edu 37 8 143823321 143823321 + Silent SNP G G A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 8 143823321 143823321 G A SNP SLURP1 ENST00000246515 human ensembl 70_37 -1 known silent c.78 p.Y26 0.724 pfam_LY6_UPAR pfam_LY6_UPAR - no_errors SLURP1 HGNC SMYD3-IT1 0 genome.wustl.edu 37 1 246485656 246485656 + RNA SNP G G A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 1 246485656 246485656 G A SNP SMYD3-IT1 ENST00000426929 human ensembl 70_37 -1 known rna NULL NULL 0.050 - - - no_errors SMYD3-IT1 HGNC SNRNP35 11066 genome.wustl.edu 37 12 123956915 123956915 + RNA SNP G G T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 12 123956915 123956915 G T SNP SNRNP35 ENST00000527158 human ensembl 70_37 +1 known rna NULL NULL 0.866 - - - no_errors SNRNP35 HGNC SPECC1L 23384 genome.wustl.edu 37 22 24724888 24724888 + Splice_Site SNP G G T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 22 24724888 24724888 G T SNP SPECC1L ENST00000314328 human ensembl 70_37 +1 known splice_site c.2220+1 e5+1 1.000 - - - no_errors SPECC1L HGNC STK11 6794 genome.wustl.edu 37 19 1207060 1207061 + Frame_Shift_Ins INS - - TGATGGGG TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 19 1207060 1207061 - TGATGGGG INS STK11 ENST00000326873 human ensembl 70_37 +1 known frame_shift_ins c.148_149 p.D53fs 1.000:1.000 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 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 STK11 HGNC STX3 6809 genome.wustl.edu 37 11 59560600 59560600 + Silent SNP G G T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 11 59560600 59560600 G T SNP STX3 ENST00000337979 human ensembl 70_37 +1 known silent c.495 p.L165 1.000 superfamily_t-SNARE pfam_Syntaxin_N,pfam_T_SNARE_dom,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors STX3 HGNC SUSD2 56241 genome.wustl.edu 37 22 24579157 24579157 + Missense_Mutation SNP G G T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 22 24579157 24579157 G T SNP SUSD2 ENST00000358321 human ensembl 70_37 +1 known missense c.209 p.G70V 1.000 superfamily_Ig_E-set pfam_AMOP,pfam_VWF_type-D,pfam_Sushi_SCR_CCP,pfam_Somatomedin_B_dom,superfamily_Complement_control_module,superfamily_Ig_E-set,smart_AMOP,smart_VWF_type-D,smart_Sushi_SCR_CCP,pfscan_AMOP,pfscan_Somatomedin_B_dom,pfscan_Sushi_SCR_CCP - no_errors SUSD2 HGNC SUSD2 56241 genome.wustl.edu 37 22 24579158 24579158 + Silent SNP A A C TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 22 24579158 24579158 A C SNP SUSD2 ENST00000358321 human ensembl 70_37 +1 known silent c.210 p.G70 0.995 superfamily_Ig_E-set pfam_AMOP,pfam_VWF_type-D,pfam_Sushi_SCR_CCP,pfam_Somatomedin_B_dom,superfamily_Complement_control_module,superfamily_Ig_E-set,smart_AMOP,smart_VWF_type-D,smart_Sushi_SCR_CCP,pfscan_AMOP,pfscan_Somatomedin_B_dom,pfscan_Sushi_SCR_CCP - no_errors SUSD2 HGNC SYT7 9066 genome.wustl.edu 37 11 61291945 61291945 + Missense_Mutation SNP G G A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 11 61291945 61291945 G A SNP SYT7 ENST00000263846 human ensembl 70_37 -1 known missense c.682 p.R228C 1.000 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin,prints_C2_dom - no_errors SYT7 HGNC SYT7 9066 genome.wustl.edu 37 11 61291945 61291945 + Missense_Mutation SNP G G A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 11 61291945 61291945 G A SNP SYT7 ENST00000263846 human ensembl 70_37 -1 known missense c.682 p.R228C 1.000 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin,prints_C2_dom - no_errors SYT7 HGNC TAS2R43 259289 genome.wustl.edu 37 12 11244687 11244687 + Missense_Mutation SNP G G C TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 12 11244687 11244687 G C SNP TAS2R43 ENST00000531678 human ensembl 70_37 -1 known missense c.142 p.L48V 0.022 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R43 HGNC TENM3 55714 genome.wustl.edu 37 4 183720851 183720851 + Missense_Mutation SNP G G A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 4 183720851 183720851 G A SNP TENM3 ENST00000406950 human ensembl 70_37 +1 known missense c.7447 p.A2483T 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c_dom,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM3 HGNC TENM4 26011 genome.wustl.edu 37 11 78516464 78516464 + Missense_Mutation SNP C C A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 11 78516464 78516464 C A SNP TENM4 ENST00000278550 human ensembl 70_37 -1 known missense c.2052 p.W684C 1.000 pfam_EGF_extracell,smart_EG-like_dom pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM4 HGNC TGM4 7047 genome.wustl.edu 37 3 44951664 44951664 + Missense_Mutation SNP G G C TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 3 44951664 44951664 G C SNP TGM4 ENST00000296125 human ensembl 70_37 +1 known missense c.1410 p.E470D 0.001 NULL pfam_Transglutaminase_N,pfam_Transglutaminase_C,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM4 HGNC TGM4 7047 genome.wustl.edu 37 3 44951664 44951664 + Missense_Mutation SNP G G C TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 3 44951664 44951664 G C SNP TGM4 ENST00000296125 human ensembl 70_37 +1 known missense c.1410 p.E470D 0.001 NULL pfam_Transglutaminase_N,pfam_Transglutaminase_C,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM4 HGNC TJP2 9414 genome.wustl.edu 37 9 71851009 71851009 + Missense_Mutation SNP G G C TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 9 71851009 71851009 G C SNP TJP2 ENST00000539225 human ensembl 70_37 +1 known missense c.1939 p.E647Q 1.000 pfam_SH3_2,superfamily_SH3_domain,pfscan_SH3_domain pfam_PDZ,pfam_Guanylate_kin,pfam_SH3_2,superfamily_PDZ,superfamily_SH3_domain,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin,prints_ZonOcculS2,prints_ZonOcculdens - no_errors TJP2 HGNC TLL1 7092 genome.wustl.edu 37 4 166965573 166965573 + Silent SNP C C T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 4 166965573 166965573 C T SNP TLL1 ENST00000507499 human ensembl 70_37 +1 novel silent c.1581 p.L527 0.000 pfam_CUB,superfamily_CUB,smart_CUB,pirsf_BMP_1/tolloid-like,pfscan_CUB pfam_CUB,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd,superfamily_CUB,smart_Peptidase_Metallo,smart_CUB,smart_EGF-like_Ca-bd,smart_EG-like_dom,pirsf_BMP_1/tolloid-like,pfscan_CUB,pfscan_EG-like_dom,prints_Peptidase_M12A - no_errors TLL1 HGNC TNKS 8658 genome.wustl.edu 37 8 9563734 9563734 + Missense_Mutation SNP C C T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 8 9563734 9563734 C T SNP TNKS ENST00000310430 human ensembl 70_37 +1 known missense c.1240 p.H414Y 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_SAM_2,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_Poly(ADP-ribose)pol_cat_dom,prints_Ankyrin_rpt - no_errors TNKS HGNC TNKS 8658 genome.wustl.edu 37 8 9563734 9563734 + Missense_Mutation SNP C C T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 8 9563734 9563734 C T SNP TNKS ENST00000310430 human ensembl 70_37 +1 known missense c.1240 p.H414Y 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_SAM_2,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_Poly(ADP-ribose)pol_cat_dom,prints_Ankyrin_rpt - no_errors TNKS HGNC TRIM64C 646754 genome.wustl.edu 37 11 49078714 49078714 + Missense_Mutation SNP C C T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 11 49078714 49078714 C T SNP TRIM64C ENST00000530230 human ensembl 70_37 -1 known missense c.715 p.V239M 0.032 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM64C HGNC TRPA1 8989 genome.wustl.edu 37 8 72936146 72936146 + Missense_Mutation SNP G G A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 8 72936146 72936146 G A SNP TRPA1 ENST00000262209 human ensembl 70_37 -1 known missense c.3052 p.H1018Y 0.000 NULL pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors TRPA1 HGNC TRPA1 8989 genome.wustl.edu 37 8 72936146 72936146 + Missense_Mutation SNP G G A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 8 72936146 72936146 G A SNP TRPA1 ENST00000262209 human ensembl 70_37 -1 known missense c.3052 p.H1018Y 0.000 NULL pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors TRPA1 HGNC TTN 7273 genome.wustl.edu 37 2 179612941 179612941 + Missense_Mutation SNP T T C TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 2 179612941 179612941 T C SNP TTN ENST00000360870 human ensembl 70_37 -1 known missense c.14186 p.Y4729C 0.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors TTN HGNC TTN 7273 genome.wustl.edu 37 2 179612941 179612941 + Missense_Mutation SNP T T C TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 2 179612941 179612941 T C SNP TTN ENST00000360870 human ensembl 70_37 -1 known missense c.14186 p.Y4729C 0.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors TTN HGNC UNC80 285175 genome.wustl.edu 37 2 210761093 210761093 + Missense_Mutation SNP G G T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 2 210761093 210761093 G T SNP UNC80 ENST00000439458 human ensembl 70_37 +1 known missense c.4339 p.A1447S 0.356 NULL NULL - no_errors UNC80 HGNC UNKL 64718 genome.wustl.edu 37 16 1420157 1420157 + Missense_Mutation SNP G G C TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 16 1420157 1420157 G C SNP UNKL ENST00000389221 human ensembl 70_37 -1 known missense c.1550 p.S517C 0.998 NULL pfam_Znf_CCCH,smart_Znf_CCCH,pfscan_Znf_RING - no_errors UNKL HGNC USP43 124739 genome.wustl.edu 37 17 9590226 9590226 + Missense_Mutation SNP G G T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 17 9590226 9590226 G T SNP USP43 ENST00000285199 human ensembl 70_37 +1 known missense c.1353 p.Q451H 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP43 HGNC USPL1 10208 genome.wustl.edu 37 13 31232650 31232650 + Silent SNP C C A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 13 31232650 31232650 C A SNP USPL1 ENST00000255304 human ensembl 70_37 +1 known silent c.2436 p.S812 0.050 NULL pfscan_Peptidase_C19 - no_errors USPL1 HGNC VARS2 57176 genome.wustl.edu 37 6 30882090 30882090 + RNA SNP G G C TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 6 30882090 30882090 G C SNP VARS2 ENST00000467717 human ensembl 70_37 +1 known rna NULL NULL 0.314 - - - no_errors VARS2 HGNC VPS8 23355 genome.wustl.edu 37 3 184769794 184769794 + Missense_Mutation SNP C C A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 3 184769794 184769794 C A SNP VPS8 ENST00000287546 human ensembl 70_37 +1 known missense c.4268 p.P1423Q 0.959 NULL superfamily_Quinonprotein_ADH-like,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Znf_RING,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors VPS8 HGNC WDR87 83889 genome.wustl.edu 37 19 38386878 38386878 + Missense_Mutation SNP G G T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 19 38386878 38386878 G T SNP WDR87 ENST00000447313 human ensembl 70_37 -1 known missense c.146 p.S49Y 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Quinolinate_PRibosylTrfase_C,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR87 HGNC WNT7B 7477 genome.wustl.edu 37 22 46372605 46372605 + Missense_Mutation SNP G G T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 22 46372605 46372605 G T SNP WNT7B ENST00000339464 human ensembl 70_37 -1 known missense c.30 p.F10L 1.000 NULL pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt7 - no_errors WNT7B HGNC ZCCHC2 54877 genome.wustl.edu 37 18 60191315 60191315 + Missense_Mutation SNP G G A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 18 60191315 60191315 G A SNP ZCCHC2 ENST00000269499 human ensembl 70_37 +1 known missense c.658 p.E220K 0.986 NULL pfam_Znf_CCHC,superfamily_Phox,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC2 HGNC ZDHHC11B 653082 genome.wustl.edu 37 5 711855 711856 + RNA INS - - TA TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 5 711855 711856 - TA INS ZDHHC11B ENST00000522356 human ensembl 70_37 -1 known rna NULL NULL 0.055:0.021 - - - no_errors ZDHHC11B HGNC ZFR 51663 genome.wustl.edu 37 5 32355732 32355732 + RNA SNP C C G TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 5 32355732 32355732 C G SNP ZFR ENST00000510369 human ensembl 70_37 -1 known rna NULL NULL 0.994 - - - no_errors ZFR HGNC ZFYVE26 23503 genome.wustl.edu 37 14 68265155 68265155 + Silent SNP C C T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 14 68265155 68265155 C T SNP ZFYVE26 ENST00000347230 human ensembl 70_37 -1 known silent c.1824 p.K608 0.001 NULL pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors ZFYVE26 HGNC ZFYVE26 23503 genome.wustl.edu 37 14 68265155 68265155 + Silent SNP C C T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 14 68265155 68265155 C T SNP ZFYVE26 ENST00000347230 human ensembl 70_37 -1 known silent c.1824 p.K608 0.001 NULL pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors ZFYVE26 HGNC ZNF25 219749 genome.wustl.edu 37 10 38265469 38265469 + RNA SNP G G C TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 10 38265469 38265469 G C SNP ZNF25 ENST00000467975 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors ZNF25 HGNC ZNF283 284349 genome.wustl.edu 37 19 44351765 44351765 + Missense_Mutation SNP G G C TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 19 44351765 44351765 G C SNP ZNF283 ENST00000324461 human ensembl 70_37 +1 known missense c.1012 p.E338Q 0.994 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 ZNF283 HGNC ZNF283 284349 genome.wustl.edu 37 19 44351765 44351765 + Missense_Mutation SNP G G C TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 19 44351765 44351765 G C SNP ZNF283 ENST00000324461 human ensembl 70_37 +1 known missense c.1012 p.E338Q 0.994 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 ZNF283 HGNC ZNF32-AS3 414201 genome.wustl.edu 37 10 44169892 44169892 + RNA SNP C C G TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 10 44169892 44169892 C G SNP ZNF32-AS3 ENST00000458063 human ensembl 70_37 +1 known rna NULL NULL 0.010 - - - no_errors ZNF32-AS3 HGNC ZNF346-IT1 0 genome.wustl.edu 37 5 176478759 176478759 + RNA SNP C C T TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 5 176478759 176478759 C T SNP ZNF346-IT1 ENST00000515264 human ensembl 70_37 +1 known rna NULL NULL 0.012 - - - no_errors ZNF346-IT1 HGNC ZNF595 152687 genome.wustl.edu 37 4 85996 85997 + RNA INS - - C TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 4 85996 85997 - C INS ZNF595 ENST00000339368 human ensembl 70_37 +1 known rna NULL NULL 0.001:0.009 - - - no_errors ZNF595 HGNC ZNF865 100507290 genome.wustl.edu 37 19 56125592 56125592 + Missense_Mutation SNP G G A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 19 56125592 56125592 G A SNP ZNF865 ENST00000568956 human ensembl 70_37 +1 novel missense c.608 p.C203Y 0.995 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF865 HGNC ZFAS1 441951 genome.wustl.edu 37 20 47905722 47905722 + RNA SNP C C A TCGA-C5-A1BF-01B-11D-A13W-08 TCGA-C5-A1BF-10A-01D-A13W-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 787570f6-4956-48af-afef-71adc28e3e31 e3adbb90-3051-438b-b7fd-7deab3f1cf03 20 47905722 47905722 C A SNP ZNFX1-AS1 ENST00000326677 human ensembl 70_37 +1 known rna NULL NULL 0.006 - - - no_errors ZNFX1-AS1 HGNC