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 ACOX3 8310 genome.wustl.edu 37 4 8396463 8396463 + Missense_Mutation SNP G G A TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 4 8396463 8396463 G A SNP ACOX3 ENST00000356406 human ensembl 70_37 -1 known missense c.1063 p.R355C 1.000 pfam_Acyl-CoA_Oxase/DH_1,superfamily_AcylCo_DH/oxidase_C,pirsf_Acyl-CoA_oxidase pfam_Acyl-CoA_oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_Oxase/DH_1,superfamily_AcylCo_DH/oxidase_C,superfamily_AcylCoA_DH/oxidase,pirsf_Acyl-CoA_oxidase - no_errors ACOX3 HGNC ACPT 93650 genome.wustl.edu 37 19 51298351 51298351 + Missense_Mutation SNP G G C TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 19 51298351 51298351 G C SNP ACPT ENST00000270594 human ensembl 70_37 +1 known missense c.938 p.S313T 0.914 NULL pfam_His_Pase_superF_clade-2 - no_errors ACPT HGNC ADAM9 8754 genome.wustl.edu 37 8 38884227 38884227 + Missense_Mutation SNP C C T TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 8 38884227 38884227 C T SNP ADAM9 ENST00000487273 human ensembl 70_37 +1 known missense c.1028 p.S343F 1.000 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B - no_errors ADAM9 HGNC ADAMTS16 170690 genome.wustl.edu 37 5 5239294 5239294 + Missense_Mutation SNP G G C TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 5 5239294 5239294 G C SNP ADAMTS16 ENST00000274181 human ensembl 70_37 +1 known missense c.2185 p.D729H 0.497 prints_Peptidase_M12B_ADAM-TS pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS16 HGNC ADCK3 56997 genome.wustl.edu 37 1 227149078 227149078 + RNA SNP C C A TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 1 227149078 227149078 C A SNP ADCK3 ENST00000489044 human ensembl 70_37 +1 known rna NULL NULL 0.946 - - - no_errors ADCK3 HGNC AFG3L1P 172 genome.wustl.edu 37 16 90059199 90059199 + RNA SNP C C T TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 16 90059199 90059199 C T SNP AFG3L1P ENST00000388970 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors AFG3L1P HGNC AFTPH 54812 genome.wustl.edu 37 2 64780340 64780340 + Missense_Mutation SNP G G A TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 2 64780340 64780340 G A SNP AFTPH ENST00000422803 human ensembl 70_37 +1 known missense c.1732 p.E578K 1.000 NULL NULL - no_errors AFTPH HGNC AGL 178 genome.wustl.edu 37 1 100336057 100336057 + Missense_Mutation SNP C C T TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 1 100336057 100336057 C T SNP AGL ENST00000294724 human ensembl 70_37 +1 known missense c.766 p.R256C 1.000 superfamily_Glycoside_hydrolase_SF,tigrfam_Glycogen_debranch_met pfam_GDE_C,superfamily_6-hairpin_glycosidase-like,superfamily_Glycoside_hydrolase_SF,tigrfam_Glycogen_debranch_met - no_errors AGL HGNC AKAP8L 26993 genome.wustl.edu 37 19 15510182 15510182 + Missense_Mutation SNP C C T TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 19 15510182 15510182 C T SNP AKAP8L ENST00000397410 human ensembl 70_37 -1 known missense c.1088 p.R363H 1.000 NULL pfam_AKAP95 - no_errors AKAP8L HGNC ARF3 377 genome.wustl.edu 37 12 49332475 49332475 + RNA SNP G G T TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 12 49332475 49332475 G T SNP ARF3 ENST00000485410 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors ARF3 HGNC ASAP1 50807 genome.wustl.edu 37 8 131127903 131127903 + Missense_Mutation SNP C C G TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 8 131127903 131127903 C G SNP ASAP1 ENST00000357668 human ensembl 70_37 -1 known missense c.2143 p.D715H 1.000 NULL pfam_ArfGAP,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_ArfGAP,prints_ArfGAP,prints_p67phox - no_errors ASAP1 HGNC ATP5D 513 genome.wustl.edu 37 19 1242530 1242530 + Missense_Mutation SNP C C T TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 19 1242530 1242530 C T SNP ATP5D ENST00000215375 human ensembl 70_37 +1 known missense c.217 p.H73Y 1.000 pfam_ATPase_F1-cplx_dsu/esu_N,superfamily_ATPase_F1-cplx_dsu/esu_N,tigrfam_ATPase_F1-cplx_dsu/esu pfam_ATPase_F1-cplx_dsu/esu_N,superfamily_ATPase_F1-cplx_dsu/esu_N,superfamily_ATPase_F1-cplx_dsu/esu_C,tigrfam_ATPase_F1-cplx_dsu/esu - no_errors ATP5D HGNC CCDC60 160777 genome.wustl.edu 37 12 119772968 119772968 + RNA SNP G G A TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 12 119772968 119772968 G A SNP CCDC60 ENST00000546345 human ensembl 70_37 +1 known rna NULL NULL 0.010 - - - no_errors CCDC60 HGNC CDK5RAP2 55755 genome.wustl.edu 37 9 123202133 123202133 + Missense_Mutation SNP G G A TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 9 123202133 123202133 G A SNP CDK5RAP2 ENST00000349780 human ensembl 70_37 -1 known missense c.3266 p.S1089F 0.920 NULL pfam_Spindle_assoc - no_errors CDK5RAP2 HGNC CEP164 22897 genome.wustl.edu 37 11 117278703 117278703 + Missense_Mutation SNP G G C TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 11 117278703 117278703 G C SNP CEP164 ENST00000278935 human ensembl 70_37 +1 known missense c.3564 p.K1188N 1.000 NULL superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP - no_errors CEP164 HGNC COG2 22796 genome.wustl.edu 37 1 230827303 230827303 + Missense_Mutation SNP G G A TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 1 230827303 230827303 G A SNP COG2 ENST00000366669 human ensembl 70_37 +1 known missense c.2108 p.G703E 1.000 NULL pfam_COG_complex_COG2_C,pfam_COG_su2_N - no_errors COG2 HGNC CRYBA4 1413 genome.wustl.edu 37 22 27019213 27019213 + Missense_Mutation SNP G G A TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 22 27019213 27019213 G A SNP CRYBA4 ENST00000354760 human ensembl 70_37 +1 known missense c.55 p.E19K 0.406 pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYBA4 HGNC CSTF2 1478 genome.wustl.edu 37 X 100081733 100081733 + Silent SNP C C A TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 X 100081733 100081733 C A SNP CSTF2 ENST00000415585 human ensembl 70_37 +1 known silent c.813 p.S271 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CSTF2 HGNC DAGLB 221955 genome.wustl.edu 37 7 6474474 6474474 + Silent SNP G G T TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 7 6474474 6474474 G T SNP DAGLB ENST00000297056 human ensembl 70_37 -1 known silent c.597 p.L199 0.000 NULL pfam_Lipase_3 - no_errors DAGLB HGNC DCLK2 166614 genome.wustl.edu 37 4 151169505 151169505 + Missense_Mutation SNP G G A TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 4 151169505 151169505 G A SNP DCLK2 ENST00000302176 human ensembl 70_37 +1 known missense c.1975 p.A659T 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_Doublecortin_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Doublecortin_dom,pfscan_Prot_kinase_cat_dom - no_errors DCLK2 HGNC DDHD2 23259 genome.wustl.edu 37 8 38099759 38099759 + RNA SNP C C G TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 8 38099759 38099759 C G SNP DDHD2 ENST00000528888 human ensembl 70_37 +1 known rna NULL NULL 0.991 - - - no_errors DDHD2 HGNC DIAPH2 1730 genome.wustl.edu 37 X 96171543 96171543 + Missense_Mutation SNP C C T TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 X 96171543 96171543 C T SNP DIAPH2 ENST00000324765 human ensembl 70_37 +1 known missense c.839 p.S280F 1.000 pfam_Drf_GTPase-bd,superfamily_ARM-type_fold pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,pfam_Drf_DAD,superfamily_ARM-type_fold,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg - no_errors DIAPH2 HGNC DNASE1L1 1774 genome.wustl.edu 37 X 153631423 153631423 + Missense_Mutation SNP C C T TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 X 153631423 153631423 C T SNP DNASE1L1 ENST00000014935 human ensembl 70_37 -1 known missense c.634 p.D212N 0.927 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_DNase_I_euk,pirsf_DNase_I_euk,prints_DNase_I_euk pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_DNase_I_euk,pirsf_DNase_I_euk,prints_DNase_I_euk - no_errors DNASE1L1 HGNC DSCAM 1826 genome.wustl.edu 37 21 41385099 41385099 + Silent SNP G G A TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 21 41385099 41385099 G A SNP DSCAM ENST00000400454 human ensembl 70_37 -1 known silent c.5901 p.A1967 0.998 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors DSCAM HGNC ELOVL5 60481 genome.wustl.edu 37 6 53213754 53213754 + RNA SNP C C A TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 6 53213754 53213754 C A SNP ELOVL5 ENST00000485336 human ensembl 70_37 -1 known rna NULL NULL 0.997 - - - no_errors ELOVL5 HGNC EMX2 2018 genome.wustl.edu 37 10 119308319 119308319 + RNA SNP C C T TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 10 119308319 119308319 C T SNP EMX2 ENST00000442245 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors EMX2 HGNC ENO1 2023 genome.wustl.edu 37 1 8926553 8926553 + Missense_Mutation SNP T T C TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 1 8926553 8926553 T C SNP ENO1 ENST00000234590 human ensembl 70_37 -1 known missense c.452 p.N151S 1.000 pfam_Enolase_C,pirsf_Enolase,tigrfam_Enolase pfam_Enolase_C,pfam_Enolase_N,pirsf_Enolase,prints_Enolase,tigrfam_Enolase - no_errors ENO1 HGNC ENSG00000224304 0 genome.wustl.edu 37 9 36334956 36334956 + RNA SNP C C T TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 9 36334956 36334956 C T SNP ENSG00000224304 ENST00000426015 human ensembl 70_37 -1 known rna NULL NULL 0.015 - - - no_errors RP11-84P7.3 Clone_based_vega_gene FAF1 11124 genome.wustl.edu 37 1 51171511 51171511 + Missense_Mutation SNP C C T TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 1 51171511 51171511 C T SNP FAF1 ENST00000371778 human ensembl 70_37 -1 known missense c.604 p.E202K 1.000 NULL pfam_UBX,superfamily_UBA-like,smart_UAS,smart_UBX,pfscan_UBX - no_errors FAF1 HGNC FAM161B 145483 genome.wustl.edu 37 14 74411422 74411422 + Missense_Mutation SNP C C T TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 14 74411422 74411422 C T SNP FAM161B ENST00000286544 human ensembl 70_37 -1 known missense c.730 p.E244K 0.997 pfam_UPF0564 pfam_UPF0564 - no_errors FAM161B HGNC FAM208B 54906 genome.wustl.edu 37 10 5777311 5777311 + Missense_Mutation SNP G G C TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 10 5777311 5777311 G C SNP FAM208B ENST00000328090 human ensembl 70_37 +1 known missense c.1249 p.D417H 0.933 NULL pfam_DUF3715,pfam_DUF3699 - no_errors FAM208B HGNC FBXL5 26234 genome.wustl.edu 37 4 15607356 15607356 + Missense_Mutation SNP G G C TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 4 15607356 15607356 G C SNP FBXL5 ENST00000341285 human ensembl 70_37 -1 known missense c.2066 p.S689C 1.000 NULL pfam_F-box_dom_cyclin-like,pfam_Leu-rich_rpt,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom_cyclin-like - no_errors FBXL5 HGNC FCGBP 8857 genome.wustl.edu 37 19 40376662 40376662 + Missense_Mutation SNP G G C TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 19 40376662 40376662 G C SNP FCGBP ENST00000221347 human ensembl 70_37 -1 known missense c.11760 p.H3920Q 0.001 pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC FLG 2312 genome.wustl.edu 37 1 152276866 152276866 + Missense_Mutation SNP G G C TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 1 152276866 152276866 G C SNP FLG ENST00000368799 human ensembl 70_37 -1 known missense c.10496 p.S3499C 0.000 pfam_Filaggrin pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin - no_errors FLG HGNC FLG 2312 genome.wustl.edu 37 1 152277562 152277562 + Missense_Mutation SNP G G A TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 1 152277562 152277562 G A SNP FLG ENST00000368799 human ensembl 70_37 -1 known missense c.9800 p.S3267F 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin - no_errors FLG HGNC GABBR1 2550 genome.wustl.edu 37 6 29577078 29577078 + Missense_Mutation SNP G G A TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 6 29577078 29577078 G A SNP GABBR1 ENST00000377034 human ensembl 70_37 -1 known missense c.1787 p.S596L 1.000 prints_GPCR_3_GABA_rcpt_B,prints_GPCR_3_GABA_rcpt_B1 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,prints_GPCR_3_GABA_rcpt_B,prints_GPCR_3_GABA_rcpt_B1,pfscan_Sushi_SCR_CCP,pfscan_GPCR_3_C - no_errors GABBR1 HGNC GFRA1 2674 genome.wustl.edu 37 10 117884787 117884787 + Missense_Mutation SNP C C T TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 10 117884787 117884787 C T SNP GFRA1 ENST00000439649 human ensembl 70_37 -1 known missense c.715 p.E239K 1.000 pirsf_Glial_neurotroph_fac_rcpt_a1/2 pfam_GDNF/GAS1,smart_GDNF/GAS1,pirsf_Glial_neurotroph_fac_rcpt_a1/2,prints_GDNF_rcpt,prints_GDNF_rcpt_A1 - no_errors GFRA1 HGNC GON4L 54856 genome.wustl.edu 37 1 155735537 155735537 + Nonsense_Mutation SNP G G A TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 1 155735537 155735537 G A SNP GON4L ENST00000368331 human ensembl 70_37 -1 known nonsense c.3727 p.Q1243* 0.951 NULL pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom - no_errors GON4L HGNC GPR144 347088 genome.wustl.edu 37 9 127237855 127237855 + Silent SNP G G C TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 9 127237855 127237855 G C SNP GPR144 ENST00000334810 human ensembl 70_37 +1 known silent c.2727 p.R909 0.750 NULL pfam_GPCR_2_secretin-like,pfam_Pentaxin,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_C-type_lectin_fold,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_Pentaxin,prints_GPCR_2_secretin-like - no_errors GPR144 HGNC GPR179 440435 genome.wustl.edu 37 17 36489893 36489893 + Missense_Mutation SNP C C T TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 17 36489893 36489893 C T SNP GPR179 ENST00000342292 human ensembl 70_37 -1 known missense c.1813 p.D605N 0.997 pfam_GPCR_3_C,pfscan_GPCR_3_C pfam_GPCR_3_C,superfamily_Growth_fac_rcpt,pfscan_GPCR_3_C - no_errors GPR179 HGNC GPR85 54329 genome.wustl.edu 37 7 112724152 112724152 + Missense_Mutation SNP C C T TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 7 112724152 112724152 C T SNP GPR85 ENST00000297146 human ensembl 70_37 -1 known missense c.625 p.V209I 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR85 HGNC GPRASP2 114928 genome.wustl.edu 37 X 101970963 101970963 + Missense_Mutation SNP C C T TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 X 101970963 101970963 C T SNP GPRASP2 ENST00000332262 human ensembl 70_37 +1 known missense c.1166 p.S389F 1.000 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold - no_errors GPRASP2 HGNC GTDC1 79712 genome.wustl.edu 37 2 144966322 144966322 + Missense_Mutation SNP G G C TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 2 144966322 144966322 G C SNP GTDC1 ENST00000344850 human ensembl 70_37 -1 known missense c.27 p.F9L 1.000 pfam_GlycosylTrfase_1_N pfam_GlycosylTrfase_1_N,pfam_Glyco_trans_1 - no_errors GTDC1 HGNC HES4 57801 genome.wustl.edu 37 1 935157 935157 + Missense_Mutation SNP G G C TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 1 935157 935157 G C SNP HES4 ENST00000428771 human ensembl 70_37 -1 known missense c.197 p.P66R 1.000 pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom pfam_Orange,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,smart_Orange_subgr,pfscan_Orange,pfscan_HLH_dom - no_errors HES4 HGNC HIST1H1C 3006 genome.wustl.edu 37 6 26056513 26056514 + Frame_Shift_Ins INS - - A TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 6 26056513 26056514 - A INS HIST1H1C ENST00000343677 human ensembl 70_37 -1 known frame_shift_ins c.144_143 p.A49fs 0.998:1.000 pfam_Histone_H1/H5,smart_Histone_H1/H5 pfam_Histone_H1/H5,smart_Histone_H1/H5,prints_Histone_H5 - no_errors HIST1H1C HGNC HS3ST3B1 9953 genome.wustl.edu 37 17 14205134 14205134 + Nonsense_Mutation SNP C C A TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 17 14205134 14205134 C A SNP HS3ST3B1 ENST00000360954 human ensembl 70_37 +1 known nonsense c.299 p.S100* 0.007 NULL pfam_Sulfotransferase_dom - no_errors HS3ST3B1 HGNC IMPG2 50939 genome.wustl.edu 37 3 100976502 100976502 + Missense_Mutation SNP C C T TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 3 100976502 100976502 C T SNP IMPG2 ENST00000193391 human ensembl 70_37 -1 known missense c.1024 p.D342N 0.984 smart_SEA pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA - no_errors IMPG2 HGNC INIP 58493 genome.wustl.edu 37 9 115456478 115456478 + Missense_Mutation SNP C C T TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 9 115456478 115456478 C T SNP INIP ENST00000374242 human ensembl 70_37 -1 known missense c.61 p.E21K 1.000 NULL NULL - no_errors INIP HGNC INTS3 65123 genome.wustl.edu 37 1 153745674 153745674 + Missense_Mutation SNP G G T TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 1 153745674 153745674 G T SNP INTS3 ENST00000318967 human ensembl 70_37 +1 known missense c.3057 p.E1019D 0.990 NULL pfam_Int_cplx_su3 - no_errors INTS3 HGNC IPCEF1 26034 genome.wustl.edu 37 6 154480965 154480965 + Nonstop_Mutation SNP A A G TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 6 154480965 154480965 A G SNP IPCEF1 ENST00000367220 human ensembl 70_37 -1 known nonstop c.1315 p.*439R 0.996 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors IPCEF1 HGNC IRF1 3659 genome.wustl.edu 37 5 131823640 131823640 + Silent SNP G G A TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 5 131823640 131823640 G A SNP IRF1 ENST00000245414 human ensembl 70_37 -1 known silent c.165 p.F55 1.000 pfam_Interferon_reg_fact_DNA-bd_dom,smart_Interferon_reg_fact_DNA-bd_dom,pirsf_Interferon_reg_fac-1/2,prints_Interferon_reg_fact_DNA-bd_dom pfam_Interferon_reg_fact_DNA-bd_dom,smart_Interferon_reg_fact_DNA-bd_dom,pirsf_Interferon_reg_fac-1/2,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF1 HGNC KCNQ3 3786 genome.wustl.edu 37 8 133141782 133141782 + Silent SNP G G A TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 8 133141782 133141782 G A SNP KCNQ3 ENST00000388996 human ensembl 70_37 -1 known silent c.2346 p.I782 0.998 pfam_Ankyrin-G_BS pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl_volt-dep_KCNQ3,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ3 HGNC KIF2B 84643 genome.wustl.edu 37 17 51900705 51900705 + Missense_Mutation SNP C C T TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 17 51900705 51900705 C T SNP KIF2B ENST00000268919 human ensembl 70_37 +1 known missense c.311 p.S104L 0.001 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF2B HGNC KIF3B 9371 genome.wustl.edu 37 20 30904625 30904625 + Missense_Mutation SNP C C T TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 20 30904625 30904625 C T SNP KIF3B ENST00000375712 human ensembl 70_37 +1 known missense c.1696 p.R566C 1.000 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF3B HGNC KIF5C 3800 genome.wustl.edu 37 2 149854923 149854923 + Missense_Mutation SNP G G C TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 2 149854923 149854923 G C SNP KIF5C ENST00000435030 human ensembl 70_37 +1 known missense c.2110 p.E704Q 1.000 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF5C HGNC KRT222 125113 genome.wustl.edu 37 17 38818185 38818185 + Missense_Mutation SNP C C T TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 17 38818185 38818185 C T SNP KRT222 ENST00000394052 human ensembl 70_37 -1 known missense c.208 p.E70K 1.000 pfam_F,prints_Keratin_I pfam_F,prints_Keratin_I - no_errors KRT222 HGNC KRTAP4-1 85285 genome.wustl.edu 37 17 39341030 39341030 + Missense_Mutation SNP C C T TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 17 39341030 39341030 C T SNP KRTAP4-1 ENST00000398472 human ensembl 70_37 -1 known missense c.77 p.R26H 0.021 pfam_Keratin-assoc pfam_Keratin-assoc - no_errors KRTAP4-1 HGNC LARP1B 55132 genome.wustl.edu 37 4 129100541 129100541 + RNA SNP C C G TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 4 129100541 129100541 C G SNP LARP1B ENST00000503725 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors LARP1B HGNC LCE2B 26239 genome.wustl.edu 37 1 152659559 152659559 + Silent SNP C C T TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 1 152659559 152659559 C T SNP LCE2B ENST00000368780 human ensembl 70_37 +1 known silent c.240 p.L80 0.000 NULL NULL - no_errors LCE2B HGNC LINC00301 283197 genome.wustl.edu 37 11 60428208 60428208 + RNA SNP G G A TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 11 60428208 60428208 G A SNP LINC00301 ENST00000320202 human ensembl 70_37 +1 known rna NULL NULL 0.081 - - - no_errors LINC00301 HGNC LOC101060787 101060787 genome.wustl.edu 37 22 20710592 20710592 + Missense_Mutation SNP C C T TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 22 20710592 20710592 C T SNP LOC101060787 ENST00000434783 human ensembl 70_37 +1 putative missense c.2324 p.T775M 0.000 NULL pfam_Ret-finger_pr-like_3_antisense,superfamily_Kinase-like_dom - no_errors AC007731.1 Clone_based_vega_gene LRRC7 57554 genome.wustl.edu 37 1 70504040 70504040 + Missense_Mutation SNP C C T TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 1 70504040 70504040 C T SNP LRRC7 ENST00000035383 human ensembl 70_37 +1 known missense c.2419 p.R807C 1.000 NULL pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors LRRC7 HGNC MANSC1 54682 genome.wustl.edu 37 12 12491469 12491469 + Missense_Mutation SNP G G C TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 12 12491469 12491469 G C SNP MANSC1 ENST00000535902 human ensembl 70_37 -1 known missense c.249 p.I83M 1.000 pfam_MANSC_N,smart_MANSC_N,pfscan_MANSC pfam_MANSC_N,smart_MANSC_N,pfscan_MANSC - no_errors MANSC1 HGNC MC2R 4158 genome.wustl.edu 37 18 13884993 13884993 + Silent SNP C C A TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 18 13884993 13884993 C A SNP MC2R ENST00000327606 human ensembl 70_37 -1 known silent c.525 p.V175 0.988 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ACTH_rcpt,prints_Melcrt_ACTH_rcpt,prints_GPCR_Rhodpsn - no_errors MC2R HGNC MGAM 8972 genome.wustl.edu 37 7 141778220 141778220 + Missense_Mutation SNP G G A TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 7 141778220 141778220 G A SNP MGAM ENST00000475668 human ensembl 70_37 +1 putative missense c.5599 p.E1867K 0.007 pfam_P_trefoil,smart_P_trefoil pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil - no_errors MGAM HGNC KMT2D 8085 genome.wustl.edu 37 12 49436343 49436343 + Splice_Site SNP C C A TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 12 49436343 49436343 C A SNP MLL2 ENST00000301067 human ensembl 70_37 -1 known splice_site c.5867+1 e27+1 1.000 - - - no_errors MLL2 HGNC KMT2C 58508 genome.wustl.edu 37 7 151836855 151836855 + Nonsense_Mutation SNP G G A TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 7 151836855 151836855 G A SNP MLL3 ENST00000355193 human ensembl 70_37 -1 known nonsense c.14536 p.R4846* 1.000 pfam_SET_dom,smart_SET_dom,pfscan_SET_dom pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL3 HGNC MT-CO1 4512 genome.wustl.edu 37 MT 7323 7324 + Frame_Shift_Ins INS - - T TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 MT 7323 7324 - T INS MT-CO1 ENST00000361624 human ensembl 70_37 +1 known frame_shift_ins c.1420_1421 p.E474fs NULL superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1 - no_errors MT-CO1 HGNC MT-ND5 4540 genome.wustl.edu 37 MT 13513 13513 + Missense_Mutation SNP G G T TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 MT 13513 13513 G T SNP MT-ND5 ENST00000361567 human ensembl 70_37 +1 known missense c.1177 p.D393Y NULL pfam_NADH_UbQ/plastoQ_OxRdtase,tigrfam_NADHpl_OxRdtase_5 pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5 - no_errors MT-ND5 HGNC MUC5B 727897 genome.wustl.edu 37 11 1257694 1257694 + Missense_Mutation SNP C C T TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 11 1257694 1257694 C T SNP MUC5B ENST00000447027 human ensembl 70_37 +1 known missense c.2968 p.R990C 0.032 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC MYO15A 51168 genome.wustl.edu 37 17 18075537 18075537 + Missense_Mutation SNP C C T TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 17 18075537 18075537 C T SNP MYO15A ENST00000205890 human ensembl 70_37 +1 known missense c.10283 p.A3428V 0.095 pfscan_FERM_domain pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom - no_errors MYO15A HGNC NDP-AS1 100873919 genome.wustl.edu 37 X 43809004 43809004 + RNA SNP C C G TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 X 43809004 43809004 C G SNP NDP-AS1 ENST00000435093 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors NDP-AS1 HGNC NDUFS2 4720 genome.wustl.edu 37 1 161184091 161184091 + RNA SNP A A G TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 1 161184091 161184091 A G SNP NDUFS2 ENST00000465923 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors NDUFS2 HGNC OR1Q1 158131 genome.wustl.edu 37 9 125377520 125377520 + Silent SNP C C T TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 9 125377520 125377520 C T SNP OR1Q1 ENST00000297913 human ensembl 70_37 +1 known silent c.504 p.F168 0.998 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1Q1 HGNC OR4K1 79544 genome.wustl.edu 37 14 20403832 20403832 + Missense_Mutation SNP C C A TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 14 20403832 20403832 C A SNP OR4K1 ENST00000285600 human ensembl 70_37 +1 known missense c.7 p.H3N 0.796 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4K1 HGNC PCDH17 27253 genome.wustl.edu 37 13 58206826 58206826 + Missense_Mutation SNP C C T TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 13 58206826 58206826 C T SNP PCDH17 ENST00000377918 human ensembl 70_37 +1 known missense c.146 p.P49L 0.978 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH17 HGNC PCDHB18 54660 genome.wustl.edu 37 5 140615000 140615000 + RNA SNP G G A TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 5 140615000 140615000 G A SNP PCDHB18 ENST00000526308 human ensembl 70_37 +1 known rna NULL NULL 0.272 - - - no_errors PCDHB18 HGNC PCDHGA4 56111 genome.wustl.edu 37 5 140737032 140737032 + Silent SNP C C T TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 5 140737032 140737032 C T SNP PCDHGA4 ENST00000571252 human ensembl 70_37 +1 known silent c.2265 p.H755 0.548 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA4 HGNC PHLDA3 23612 genome.wustl.edu 37 1 201437555 201437555 + Silent SNP G G A TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 1 201437555 201437555 G A SNP PHLDA3 ENST00000367309 human ensembl 70_37 -1 known silent c.360 p.L120 0.137 NULL smart_Pleckstrin_homology - no_errors PHLDA3 HGNC PHLDA3 23612 genome.wustl.edu 37 1 201437741 201437741 + Silent SNP G G A TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 1 201437741 201437741 G A SNP PHLDA3 ENST00000367309 human ensembl 70_37 -1 known silent c.174 p.I58 1.000 smart_Pleckstrin_homology smart_Pleckstrin_homology - no_errors PHLDA3 HGNC PIWIL3 440822 genome.wustl.edu 37 22 25155919 25155919 + Missense_Mutation SNP G G A TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 22 25155919 25155919 G A SNP PIWIL3 ENST00000332271 human ensembl 70_37 -1 known missense c.140 p.P47L 0.000 NULL pfam_Piwi,pfam_PAZ,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi - no_errors PIWIL3 HGNC PJA1 64219 genome.wustl.edu 37 X 68381222 68381222 + Silent SNP C C T TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 X 68381222 68381222 C T SNP PJA1 ENST00000361478 human ensembl 70_37 -1 known silent c.1860 p.P620 0.144 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors PJA1 HGNC PROCA1 147011 genome.wustl.edu 37 17 27030957 27030957 + Missense_Mutation SNP C C G TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 17 27030957 27030957 C G SNP PROCA1 ENST00000439862 human ensembl 70_37 -1 known missense c.636 p.K212N 1.000 NULL pfam_PLipase_A2_euk,superfamily_PLipase_A2 - no_errors PROCA1 HGNC PROM2 150696 genome.wustl.edu 37 2 95950732 95950732 + Missense_Mutation SNP C C T TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 2 95950732 95950732 C T SNP PROM2 ENST00000317620 human ensembl 70_37 +1 known missense c.1744 p.R582W 0.001 pfam_Prominin pfam_Prominin - no_errors PROM2 HGNC PSTPIP1 9051 genome.wustl.edu 37 15 77310554 77310554 + Silent SNP G G A TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 15 77310554 77310554 G A SNP PSTPIP1 ENST00000559785 human ensembl 70_37 +1 known silent c.297 p.K99 1.000 pfam_FCH,superfamily_Prismane-like,smart_FCH,pfscan_FCH pfam_FCH,superfamily_Prismane-like,smart_FCH,pfscan_FCH - no_errors PSTPIP1 HGNC RAPGEF2 9693 genome.wustl.edu 37 4 160275088 160275088 + Missense_Mutation SNP C C A TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 4 160275088 160275088 C A SNP RAPGEF2 ENST00000264431 human ensembl 70_37 +1 known missense c.4058 p.S1353Y 0.616 NULL pfam_RasGRF_CDC25,pfam_Ras-assoc,pfam_Ras-like_Gua-exchang_fac_N,pfam_PDZ,pfam_cNMP-bd_dom,superfamily_Ras_GEF_dom,superfamily_PDZ,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ras-like_Gua-exchang_fac_N,smart_PDZ,smart_Ras-assoc,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_PDZ,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RAPGEF2 HGNC RPGRIP1 57096 genome.wustl.edu 37 14 21769221 21769221 + Silent SNP G G A TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 14 21769221 21769221 G A SNP RPGRIP1 ENST00000206660 human ensembl 70_37 +1 known silent c.315 p.Q105 0.000 NULL pfam_DUF3250,superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors RPGRIP1 HGNC SCARB2 950 genome.wustl.edu 37 4 77097666 77097666 + Missense_Mutation SNP C C T TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 4 77097666 77097666 C T SNP SCARB2 ENST00000264896 human ensembl 70_37 -1 known missense c.628 p.D210N 1.000 pfam_CD36 pfam_CD36,superfamily_NA-bd_OB-fold-like,prints_LimpII,prints_CD36,prints_CD36_antigen - no_errors SCARB2 HGNC SCARNA14 692149 genome.wustl.edu 37 15 66639623 66639623 + RNA SNP G G A TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 15 66639623 66639623 G A SNP SCARNA14 ENST00000516903 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors SCARNA14 HGNC SLC18A1 6570 genome.wustl.edu 37 8 20036736 20036736 + Silent SNP G G A TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 8 20036736 20036736 G A SNP SLC18A1 ENST00000276373 human ensembl 70_37 -1 known silent c.384 p.G128 0.769 superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Multidrug-R - no_errors SLC18A1 HGNC SLC38A4 55089 genome.wustl.edu 37 12 47170786 47170786 + Missense_Mutation SNP G G A TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 12 47170786 47170786 G A SNP SLC38A4 ENST00000266579 human ensembl 70_37 -1 known missense c.1075 p.R359W 1.000 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC38A4 HGNC SLC39A9 55334 genome.wustl.edu 37 14 69864945 69864945 + RNA SNP C C T TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 14 69864945 69864945 C T SNP SLC39A9 ENST00000556125 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors SLC39A9 HGNC SLC6A2 6530 genome.wustl.edu 37 16 55727946 55727946 + Missense_Mutation SNP A A G TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 16 55727946 55727946 A G SNP SLC6A2 ENST00000219833 human ensembl 70_37 +1 known missense c.943 p.I315V 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_noradrenaline - no_errors SLC6A2 HGNC SMAD6 4091 genome.wustl.edu 37 15 67073399 67073399 + Silent SNP C C T TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 15 67073399 67073399 C T SNP SMAD6 ENST00000288840 human ensembl 70_37 +1 known silent c.1017 p.H339 1.000 pfam_SMAD_dom_Dwarfin-type,superfamily_SMAD_FHA_domain,smart_SMAD_dom_Dwarfin-type,pfscan_SMAD_dom_Dwarfin-type pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD6 HGNC SPATA31D1 389763 genome.wustl.edu 37 9 84607539 84607539 + Missense_Mutation SNP A A T TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 9 84607539 84607539 A T SNP SPATA31D1 ENST00000344803 human ensembl 70_37 +1 known missense c.2154 p.K718N 0.000 NULL NULL - no_errors SPATA31D1 HGNC SPNS1 83985 genome.wustl.edu 37 16 28990592 28990592 + Missense_Mutation SNP G G A TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 16 28990592 28990592 G A SNP SPNS1 ENST00000311008 human ensembl 70_37 +1 known missense c.561 p.M187I 1.000 pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SPNS1 HGNC SUPV3L1 6832 genome.wustl.edu 37 10 70968684 70968684 + Missense_Mutation SNP G G C TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 10 70968684 70968684 G C SNP SUPV3L1 ENST00000359655 human ensembl 70_37 +1 known missense c.2254 p.E752Q 0.683 NULL pfam_SUV3_C,pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C - no_errors SUPV3L1 HGNC SYT3 84258 genome.wustl.edu 37 19 51128796 51128796 + Silent SNP G G A TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 19 51128796 51128796 G A SNP SYT3 ENST00000338916 human ensembl 70_37 -1 known silent c.1428 p.I476 0.999 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 SYT3 HGNC TAF1 6872 genome.wustl.edu 37 X 70603813 70603813 + Missense_Mutation SNP T T G TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 X 70603813 70603813 T G SNP TAF1 ENST00000449580 human ensembl 70_37 +1 known missense c.1946 p.M649R 1.000 pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591 pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1 HGNC TAS2R50 259296 genome.wustl.edu 37 12 11139426 11139426 + Silent SNP G G A TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 12 11139426 11139426 G A SNP TAS2R50 ENST00000506868 human ensembl 70_37 -1 known silent c.34 p.L12 0.000 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R50 HGNC TBC1D16 125058 genome.wustl.edu 37 17 77921490 77921490 + Missense_Mutation SNP G G C TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 17 77921490 77921490 G C SNP TBC1D16 ENST00000310924 human ensembl 70_37 -1 known missense c.1682 p.T561R 1.000 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D16 HGNC TEX13A 56157 genome.wustl.edu 37 X 104464159 104464159 + Missense_Mutation SNP C C T TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 X 104464159 104464159 C T SNP TEX13A ENST00000372575 human ensembl 70_37 -1 known missense c.719 p.R240K 0.000 NULL NULL - no_errors TEX13A HGNC TMEM44 93109 genome.wustl.edu 37 3 194331718 194331718 + Nonsense_Mutation SNP G G C TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 3 194331718 194331718 G C SNP TMEM44 ENST00000392432 human ensembl 70_37 -1 known nonsense c.1085 p.S362* 0.069 NULL NULL - no_errors TMEM44 HGNC TNFSF12-TNFSF13 407977 genome.wustl.edu 37 17 7452616 7452616 + Missense_Mutation SNP C C T TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 17 7452616 7452616 C T SNP TNFSF12-TNFSF13 ENST00000293826 human ensembl 70_37 +1 known missense c.146 p.S49L 0.985 NULL pfam_TNF,superfamily_Tumour_necrosis_fac-like,smart_TNF,pfscan_TNF - no_errors TNFSF12-TNFSF13 HGNC TTN 7273 genome.wustl.edu 37 2 179590293 179590293 + Missense_Mutation SNP C C T TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 2 179590293 179590293 C T SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.16906 p.A5636T 0.980 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC UBR3 130507 genome.wustl.edu 37 2 170930076 170930076 + Missense_Mutation SNP G G C TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 2 170930076 170930076 G C SNP UBR3 ENST00000272793 human ensembl 70_37 +1 known missense c.5158 p.E1720Q 1.000 NULL pfam_Znf_N-recognin,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR3 HGNC UGGT2 55757 genome.wustl.edu 37 13 96508441 96508441 + Missense_Mutation SNP C C G TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 13 96508441 96508441 C G SNP UGGT2 ENST00000376747 human ensembl 70_37 -1 known missense c.3979 p.D1327H 1.000 pfam_Glyco_trans_8 pfam_UDP-g_GGtrans,pfam_Glyco_trans_8 - no_errors UGGT2 HGNC UNC93A 54346 genome.wustl.edu 37 6 167708020 167708020 + Missense_Mutation SNP G G A TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 6 167708020 167708020 G A SNP UNC93A ENST00000230256 human ensembl 70_37 +1 known missense c.103 p.E35K 0.992 pfam_Ion_channel_UNC-93,superfamily_MFS_dom_general_subst_transpt pfam_Ion_channel_UNC-93,superfamily_MFS_dom_general_subst_transpt - no_errors UNC93A HGNC WDR33 55339 genome.wustl.edu 37 2 128474785 128474785 + Missense_Mutation SNP C C T TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 2 128474785 128474785 C T SNP WDR33 ENST00000322313 human ensembl 70_37 -1 known missense c.2813 p.G938E 1.000 NULL pfam_WD40_repeat,pfam_Collagen,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR33 HGNC ZAN 7455 genome.wustl.edu 37 7 100372997 100372997 + Missense_Mutation SNP G G C TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 7 100372997 100372997 G C SNP ZAN ENST00000546292 human ensembl 70_37 +1 known missense c.5824 p.D1942H 1.000 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl_sf,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_MAM_dom - no_errors ZAN HGNC ZNF679 168417 genome.wustl.edu 37 7 63726618 63726618 + Nonsense_Mutation SNP C C T TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 7 63726618 63726618 C T SNP ZNF679 ENST00000255746 human ensembl 70_37 +1 known nonsense c.607 p.Q203* 0.799 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 ZNF679 HGNC ZNF680 340252 genome.wustl.edu 37 7 63981581 63981581 + Silent SNP G G A TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 7 63981581 63981581 G A SNP ZNF680 ENST00000309683 human ensembl 70_37 -1 known silent c.1551 p.L517 0.009 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 ZNF680 HGNC ZNF93 81931 genome.wustl.edu 37 19 20026190 20026190 + Silent SNP G G A TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 19 20026190 20026190 G A SNP ZNF93 ENST00000343769 human ensembl 70_37 +1 known silent c.105 p.E35 0.924 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box 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 ZNF93 HGNC ZSCAN5B 342933 genome.wustl.edu 37 19 56702270 56702270 + Silent SNP C C T TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0267fb4a-5fa6-4ed0-9e17-e8b18d9a9b08 0f91351d-4409-454f-b18b-b4cfc22ba161 19 56702270 56702270 C T SNP ZSCAN5B ENST00000358992 human ensembl 70_37 -1 known silent c.675 p.L225 0.062 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN5B HGNC