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 ABL1 25 genome.wustl.edu 37 9 133760730 133760730 + Missense_Mutation SNP C C A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 9 133760730 133760730 C A SNP ABL1 ENST00000372348 human ensembl 70_37 +1 known missense c.3110 p.P1037H 1.000 pfam_F-actin_binding,smart_F-actin_binding pfam_F-actin_binding,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_F-actin_binding,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors ABL1 HGNC ACAD8 27034 genome.wustl.edu 37 11 134128484 134128484 + Missense_Mutation SNP G G T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 11 134128484 134128484 G T SNP ACAD8 ENST00000281182 human ensembl 70_37 +1 known missense c.456 p.M152I 1.000 pfam_Acyl-CoA_DH_N,superfamily_AcylCoA_DH/oxidase pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_N,pfam_Acyl-CoA_DH_2_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCoA_DH/oxidase,superfamily_AcylCo_DH/oxidase_C - no_errors ACAD8 HGNC ADAM7 8756 genome.wustl.edu 37 8 24342818 24342818 + Nonsense_Mutation SNP G G T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 8 24342818 24342818 G T SNP ADAM7 ENST00000175238 human ensembl 70_37 +1 known nonsense c.904 p.G302* 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_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM7 HGNC AHDC1 27245 genome.wustl.edu 37 1 27874770 27874770 + Missense_Mutation SNP C C T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 1 27874770 27874770 C T SNP AHDC1 ENST00000247087 human ensembl 70_37 -1 known missense c.3857 p.R1286Q 1.000 NULL NULL - no_errors AHDC1 HGNC ALDH4A1 8659 genome.wustl.edu 37 1 19208252 19208252 + Missense_Mutation SNP C C A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 1 19208252 19208252 C A SNP ALDH4A1 ENST00000290597 human ensembl 70_37 -1 known missense c.808 p.G270W 1.000 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_1-pyrroline-5-COlate_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_1-pyrroline-5-COlate_DH - no_errors ALDH4A1 HGNC APOBEC4 403314 genome.wustl.edu 37 1 183617855 183617855 + Missense_Mutation SNP C C A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 1 183617855 183617855 C A SNP APOBEC4 ENST00000308641 human ensembl 70_37 -1 known missense c.62 p.W21L 1.000 NULL pfam_APOBEC_N - no_errors APOBEC4 HGNC ARHGAP31 57514 genome.wustl.edu 37 3 119132712 119132712 + Missense_Mutation SNP G G A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 3 119132712 119132712 G A SNP ARHGAP31 ENST00000264245 human ensembl 70_37 +1 known missense c.1936 p.D646N 0.999 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP31 HGNC ARMC12 221481 genome.wustl.edu 37 6 35715376 35715376 + Silent SNP C C T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 6 35715376 35715376 C T SNP ARMC12 ENST00000288065 human ensembl 70_37 +1 known silent c.723 p.S241 0.219 pfam_ARM-rpt_dom,superfamily_ARM-type_fold pfam_ARM-rpt_dom,superfamily_ARM-type_fold - no_errors ARMC12 HGNC ARPC2 10109 genome.wustl.edu 37 2 219093481 219093481 + Missense_Mutation SNP C C T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 2 219093481 219093481 C T SNP ARPC2 ENST00000295685 human ensembl 70_37 +1 known missense c.130 p.H44Y 1.000 NULL pfam_P34-arc - no_errors ARPC2 HGNC ATP9B 374868 genome.wustl.edu 37 18 77067172 77067172 + Missense_Mutation SNP G G A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 18 77067172 77067172 G A SNP ATP9B ENST00000426216 human ensembl 70_37 +1 known missense c.1711 p.A571T 0.149 pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,tigrfam_ATPase_P-typ_Plipid-transl pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP9B HGNC ATPAF2 91647 genome.wustl.edu 37 17 17927999 17927999 + Missense_Mutation SNP C C T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 17 17927999 17927999 C T SNP ATPAF2 ENST00000474627 human ensembl 70_37 -1 known missense c.442 p.E148K 1.000 pfam_ATP12_ATPase-F1F0-assembly pfam_ATP12_ATPase-F1F0-assembly - no_errors ATPAF2 HGNC BRD3 8019 genome.wustl.edu 37 9 136901377 136901377 + Silent SNP G G T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 9 136901377 136901377 G T SNP BRD3 ENST00000303407 human ensembl 70_37 -1 known silent c.1713 p.P571 0.996 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD3 HGNC BRWD3 254065 genome.wustl.edu 37 X 79936929 79936929 + Missense_Mutation SNP G G A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e X 79936929 79936929 G A SNP BRWD3 ENST00000373275 human ensembl 70_37 -1 known missense c.4565 p.S1522L 0.948 NULL pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quino_amine_DH_bsu,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors BRWD3 HGNC C11orf48 79081 genome.wustl.edu 37 11 62430806 62430806 + Splice_Site SNP C C A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 11 62430806 62430806 C A SNP C11orf48 ENST00000431002 human ensembl 70_37 -1 known splice_site c.742-1 e4-1 0.997 - - - no_errors C11orf48 HGNC C16orf96 342346 genome.wustl.edu 37 16 4606764 4606764 + Missense_Mutation SNP G G A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 16 4606764 4606764 G A SNP C16orf96 ENST00000444310 human ensembl 70_37 +1 known missense c.274 p.E92K 0.791 NULL NULL - no_errors C16orf96 HGNC CAPN3 825 genome.wustl.edu 37 15 42676699 42676699 + Nonsense_Mutation SNP C C T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 15 42676699 42676699 C T SNP CAPN3 ENST00000397163 human ensembl 70_37 +1 known nonsense c.328 p.R110* 1.000 pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN3 HGNC CASZ1 54897 genome.wustl.edu 37 1 10725312 10725312 + Silent SNP G G T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 1 10725312 10725312 G T SNP CASZ1 ENST00000377022 human ensembl 70_37 -1 known silent c.333 p.R111 0.029 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CASZ1 HGNC CCDC115 84317 genome.wustl.edu 37 2 131097203 131097203 + Missense_Mutation SNP G G T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 2 131097203 131097203 G T SNP CCDC115 ENST00000442217 human ensembl 70_37 -1 known missense c.563 p.T188K 0.000 NULL NULL - no_errors CCDC115 HGNC CFP 5199 genome.wustl.edu 37 X 47486553 47486553 + Silent SNP C C A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e X 47486553 47486553 C A SNP CFP ENST00000247153 human ensembl 70_37 -1 known silent c.753 p.L251 0.955 pfam_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors CFP HGNC CLDN11 5010 genome.wustl.edu 37 3 170425957 170425957 + RNA SNP G G T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 3 170425957 170425957 G T SNP CLDN11 ENST00000480067 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors CLDN11 HGNC CLEC10A 10462 genome.wustl.edu 37 17 6978956 6978956 + Missense_Mutation SNP G G T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 17 6978956 6978956 G T SNP CLEC10A ENST00000576617 human ensembl 70_37 -1 known missense c.688 p.Q230K 0.001 NULL pfam_Lectin_N,pfam_C-type_lectin,superfamily_C-type_lectin_fold - no_errors CLEC10A HGNC CLPB 81570 genome.wustl.edu 37 11 72006666 72006666 + Missense_Mutation SNP C C G TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 11 72006666 72006666 C G SNP CLPB ENST00000294053 human ensembl 70_37 -1 known missense c.1446 p.K482N 1.000 pfam_ATPase_AAA-2,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,pfam_Sigma_54_int,smart_AAA+_ATPase pfam_ATPase_AAA-2,pfam_Ankyrin_rpt,pfam_Clp_ATPase_C,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,pfam_Zeta_toxin_domain,pfam_Sigma_54_int,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_AAA+_ATPase,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Chaprnin_ClpA/B - no_errors CLPB HGNC CNTNAP2 26047 genome.wustl.edu 37 7 147964216 147964216 + Missense_Mutation SNP T T C TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 7 147964216 147964216 T C SNP CNTNAP2 ENST00000361727 human ensembl 70_37 +1 known missense c.3473 p.I1158T 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP2 HGNC COL4A3 1285 genome.wustl.edu 37 2 228111453 228111453 + Missense_Mutation SNP C C T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 2 228111453 228111453 C T SNP COL4A3 ENST00000396578 human ensembl 70_37 +1 known missense c.440 p.P147L 0.801 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A3 HGNC CPNE1 8904 genome.wustl.edu 37 20 34219869 34219869 + Missense_Mutation SNP C C T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 20 34219869 34219869 C T SNP CPNE1 ENST00000317677 human ensembl 70_37 -1 known missense c.550 p.E184K 1.000 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting pfam_Copine,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_VWF_A,pfscan_C2_membr_targeting - no_errors CPNE1 HGNC CSMD1 64478 genome.wustl.edu 37 8 3063032 3063032 + Nonsense_Mutation SNP C C A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 8 3063032 3063032 C A SNP CSMD1 ENST00000520002 human ensembl 70_37 -1 known nonsense c.4981 p.E1661* 1.000 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC CSMD3 114788 genome.wustl.edu 37 8 113812431 113812431 + Silent SNP G G A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 8 113812431 113812431 G A SNP CSMD3 ENST00000297405 human ensembl 70_37 -1 known silent c.1932 p.D644 1.000 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC DDC 1644 genome.wustl.edu 37 7 50605581 50605581 + Nonsense_Mutation SNP C C A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 7 50605581 50605581 C A SNP DDC ENST00000357936 human ensembl 70_37 -1 known nonsense c.412 p.G138* 1.000 pfam_PyrdxlP-dep_de-COase,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase_major_dom pfam_PyrdxlP-dep_de-COase,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase_major_dom,prints_Aromatic_deC - no_errors DDC HGNC DDX21 9188 genome.wustl.edu 37 10 70738628 70738628 + Missense_Mutation SNP A A G TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 10 70738628 70738628 A G SNP DDX21 ENST00000354185 human ensembl 70_37 +1 known missense c.1933 p.I645V 0.173 pfam_GUCT pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_GUCT,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX21 HGNC DENND4C 55667 genome.wustl.edu 37 9 19360377 19360377 + Missense_Mutation SNP C C A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 9 19360377 19360377 C A SNP DENND4C ENST00000380437 human ensembl 70_37 +1 known missense c.4441 p.Q1481K 1.000 NULL pfam_DENN_dom,pfam_dDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND4C HGNC DIDO1 11083 genome.wustl.edu 37 20 61513055 61513055 + Missense_Mutation SNP G G T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 20 61513055 61513055 G T SNP DIDO1 ENST00000266070 human ensembl 70_37 -1 known missense c.4253 p.A1418E 0.036 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger - no_errors DIDO1 HGNC DNAH3 55567 genome.wustl.edu 37 16 21031189 21031189 + Missense_Mutation SNP C C T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 16 21031189 21031189 C T SNP DNAH3 ENST00000261383 human ensembl 70_37 -1 known missense c.5779 p.E1927K 1.000 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 11671931 11671931 + Missense_Mutation SNP G G T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 17 11671931 11671931 G T SNP DNAH9 ENST00000262442 human ensembl 70_37 +1 known missense c.7332 p.E2444D 0.640 NULL 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 DNAJC27 51277 genome.wustl.edu 37 2 25180768 25180768 + Missense_Mutation SNP C C T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 2 25180768 25180768 C T SNP DNAJC27 ENST00000264711 human ensembl 70_37 -1 known missense c.316 p.A106T 0.998 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_DnaJ_N,pfam_EF_GTP-bd_dom,superfamily_DnaJ_N,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,smart_DnaJ_N,pfscan_DnaJ_N,prints_Small_GTPase,prints_Hsp_DnaJ,tigrfam_Small_GTP-bd_dom - no_errors DNAJC27 HGNC DPH2 1802 genome.wustl.edu 37 1 44436297 44436297 + Missense_Mutation SNP G G T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 1 44436297 44436297 G T SNP DPH2 ENST00000255108 human ensembl 70_37 +1 known missense c.177 p.L59F 0.978 pfam_DPH1/DPH2,tigrfam_DPH1/DPH2,tigrfam_DHP2_eu pfam_DPH1/DPH2,tigrfam_DPH1/DPH2,tigrfam_DHP2_eu - no_errors DPH2 HGNC E2F8 79733 genome.wustl.edu 37 11 19251245 19251245 + Missense_Mutation SNP G G A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 11 19251245 19251245 G A SNP E2F8 ENST00000250024 human ensembl 70_37 -1 known missense c.1649 p.S550F 0.877 NULL pfam_E2F_TDP - no_errors E2F8 HGNC ELN 2006 genome.wustl.edu 37 7 73452044 73452044 + Silent SNP G G T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 7 73452044 73452044 G T SNP ELN ENST00000358929 human ensembl 70_37 +1 known silent c.171 p.G57 0.644 NULL prints_Tropoelastin - no_errors ELN HGNC ENSG00000259660 0 genome.wustl.edu 37 15 102299987 102299987 + RNA SNP C C A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 15 102299987 102299987 C A SNP ENSG00000259660 ENST00000561463 human ensembl 70_37 +1 known rna NULL NULL 0.997 - - - no_errors CTD-2611K5.6 Clone_based_vega_gene ENSG00000259966 0 genome.wustl.edu 37 16 32617021 32617021 + RNA SNP C C T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 16 32617021 32617021 C T SNP ENSG00000259966 ENST00000562976 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-652G5.1 Clone_based_vega_gene ENSG00000267462 0 genome.wustl.edu 37 18 57678353 57678353 + RNA SNP C C T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 18 57678353 57678353 C T SNP ENSG00000267462 ENST00000585691 human ensembl 70_37 +1 known rna NULL NULL 0.005 - - - no_errors RP11-866E20.3 Clone_based_vega_gene ENSG00000267954 0 genome.wustl.edu 37 22 24125919 24125919 + Missense_Mutation SNP G G T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 22 24125919 24125919 G T SNP ENSG00000267954 ENST00000598975 human ensembl 70_37 -1 known missense c.227 p.A76E 1.000 NULL NULL - no_errors AP000349.1 Clone_based_ensembl_gene ENSG00000268802 0 genome.wustl.edu 37 19 54863963 54863963 + RNA SNP G G T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 19 54863963 54863963 G T SNP ENSG00000268802 ENST00000596234 human ensembl 70_37 -1 known rna NULL NULL 0.018 - - - no_errors CTD-2587H19.1 Clone_based_vega_gene EPDR1 54749 genome.wustl.edu 37 7 37960261 37960261 + Missense_Mutation SNP G G C TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 7 37960261 37960261 G C SNP EPDR1 ENST00000559325 human ensembl 70_37 +1 known missense c.80 p.R27T 0.205 NULL pfam_Ependymin,smart_Ependymin,prints_Ependymin - no_errors EPDR1 HGNC FAM172A 83989 genome.wustl.edu 37 5 93217320 93217320 + Missense_Mutation SNP C C A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 5 93217320 93217320 C A SNP FAM172A ENST00000395965 human ensembl 70_37 -1 known missense c.642 p.Q214H 0.999 pfam_Arb2_domain pfam_Arb2_domain - no_errors FAM172A HGNC FAM86C2P 645332 genome.wustl.edu 37 11 67560476 67560476 + RNA SNP A A G TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 11 67560476 67560476 A G SNP FAM86C2P ENST00000528089 human ensembl 70_37 -1 known rna NULL NULL 0.034 - - - no_errors FAM86C2P HGNC FBXL13 222235 genome.wustl.edu 37 7 102566785 102566785 + Missense_Mutation SNP C C A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 7 102566785 102566785 C A SNP FBXL13 ENST00000313221 human ensembl 70_37 -1 known missense c.814 p.G272W 0.066 NULL smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom_cyclin-like - no_errors FBXL13 HGNC FCGRT 2217 genome.wustl.edu 37 19 50027768 50027768 + Silent SNP C C A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 19 50027768 50027768 C A SNP FCGRT ENST00000221466 human ensembl 70_37 +1 known silent c.606 p.P202 0.510 pfscan_Ig-like pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like - no_errors FCGRT HGNC FLJ22184 80164 genome.wustl.edu 37 19 7936531 7936531 + Silent SNP G G T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 19 7936531 7936531 G T SNP FLJ22184 ENST00000539422 human ensembl 70_37 -1 known silent c.1599 p.A533 0.005 NULL NULL - no_errors FLJ22184 Uniprot_genename FSHR 2492 genome.wustl.edu 37 2 49190835 49190835 + Silent SNP C C T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 2 49190835 49190835 C T SNP FSHR ENST00000406846 human ensembl 70_37 -1 known silent c.1125 p.L375 1.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_GnHR_TM,pfam_LRR-contain_N,pfam_Leu-rich_rpt,smart_LRR-contain_N,prints_FSH_rcpt,prints_Gphrmn_rcpt,prints_GPCR_Rhodpsn,prints_TSH_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors FSHR HGNC FUT1 2523 genome.wustl.edu 37 19 49254068 49254068 + Missense_Mutation SNP C C G TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 19 49254068 49254068 C G SNP FUT1 ENST00000310160 human ensembl 70_37 -1 known missense c.471 p.L157F 0.007 pfam_Glyco_trans_11 pfam_Glyco_trans_11 - no_errors FUT1 HGNC GAA 2548 genome.wustl.edu 37 17 78082385 78082385 + Missense_Mutation SNP G G A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 17 78082385 78082385 G A SNP GAA ENST00000302262 human ensembl 70_37 +1 known missense c.1173 p.M391I 1.000 pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil - no_errors GAA HGNC GALNTL6 442117 genome.wustl.edu 37 4 173942763 173942763 + Missense_Mutation SNP G G T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 4 173942763 173942763 G T SNP GALNTL6 ENST00000506823 human ensembl 70_37 +1 known missense c.1625 p.W542L 1.000 pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNTL6 HGNC GART 2618 genome.wustl.edu 37 21 34882121 34882122 + Frame_Shift_Ins INS - - T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 21 34882121 34882122 - T INS GART ENST00000381815 human ensembl 70_37 -1 known frame_shift_ins c.2421_2420 p.A808fs 0.864:0.844 superfamily_Formyl_transf_N,tigrfam_PurN_trans pfam_PRibGlycinamid_synth_ATP-grasp,pfam_Formyl_transf_N,pfam_PRibGlycinamide_synth_N,pfam_AIR_synth_C_dom,pfam_PRibGlycinamide_synth_C-dom,pfam_AIR_synth_N_dom,pfam_ATP-grasp_carboxylate-amine,pfam_CbamoylP_synth_lsu-like_ATP-bd,superfamily_Formyl_transf_N,superfamily_AIR_synth_C_dom,superfamily_PurM_N-like,superfamily_PreATP-grasp_fold,superfamily_Rudment_hybrid_motif,pfscan_ATP-grasp,tigrfam_PRibGlycinamide_synth,tigrfam_PurM_cligase,tigrfam_PurN_trans - no_errors GART HGNC GJD2 57369 genome.wustl.edu 37 15 35044752 35044752 + Missense_Mutation SNP C C T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 15 35044752 35044752 C T SNP GJD2 ENST00000290374 human ensembl 70_37 -1 known missense c.893 p.R298H 1.000 NULL pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin36 - no_errors GJD2 HGNC GOLGA4 2803 genome.wustl.edu 37 3 37365218 37365218 + Missense_Mutation SNP C C A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 3 37365218 37365218 C A SNP GOLGA4 ENST00000361924 human ensembl 70_37 +1 known missense c.1841 p.T614K 0.974 NULL pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,superfamily_t-SNARE,superfamily_Prefoldin,smart_GRIP,pfscan_GRIP - no_errors GOLGA4 HGNC GPATCH2 55105 genome.wustl.edu 37 1 217688211 217688211 + Silent SNP C C A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 1 217688211 217688211 C A SNP GPATCH2 ENST00000366935 human ensembl 70_37 -1 known silent c.1119 p.V373 0.370 NULL pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom - no_errors GPATCH2 HGNC GPC3 2719 genome.wustl.edu 37 X 132730622 132730622 + Silent SNP C C T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e X 132730622 132730622 C T SNP GPC3 ENST00000394299 human ensembl 70_37 -1 known silent c.1488 p.L496 1.000 pfam_Glypican pfam_Glypican - no_errors GPC3 HGNC GRIK3 2899 genome.wustl.edu 37 1 37271868 37271868 + Silent SNP C C A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 1 37271868 37271868 C A SNP GRIK3 ENST00000373091 human ensembl 70_37 -1 known silent c.2151 p.A717 0.846 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK3 HGNC HMCN1 83872 genome.wustl.edu 37 1 186113713 186113713 + Nonsense_Mutation SNP C C A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 1 186113713 186113713 C A SNP HMCN1 ENST00000271588 human ensembl 70_37 +1 known nonsense c.14144 p.S4715* 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd,pfam_Thrombospondin_1_rpt,superfamily_Green_fluorescent_prot-like,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like - no_errors HMCN1 HGNC IRS4 8471 genome.wustl.edu 37 X 107977802 107977803 + Frame_Shift_Ins INS - - C TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e X 107977802 107977803 - C INS IRS4 ENST00000372129 human ensembl 70_37 -1 known frame_shift_ins c.1773_1772 p.K592fs 0.031:0.016 NULL pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1 - no_errors IRS4 HGNC IYD 389434 genome.wustl.edu 37 6 150716577 150716577 + Silent SNP G G T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 6 150716577 150716577 G T SNP IYD ENST00000367335 human ensembl 70_37 +1 known silent c.735 p.L245 0.000 NULL pfam_Nitroreductase-like,superfamily_Nitroreductase-like - no_errors IYD HGNC JAKMIP2 9832 genome.wustl.edu 37 5 147040796 147040796 + Silent SNP G G A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 5 147040796 147040796 G A SNP JAKMIP2 ENST00000265272 human ensembl 70_37 -1 known silent c.342 p.L114 1.000 NULL NULL - no_errors JAKMIP2 HGNC KHDC1 80759 genome.wustl.edu 37 6 74019411 74019411 + Missense_Mutation SNP G G T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 6 74019411 74019411 G T SNP KHDC1 ENST00000370384 human ensembl 70_37 -1 putative missense c.27 p.F9L 0.000 NULL NULL - no_errors KHDC1 HGNC KIAA1191 57179 genome.wustl.edu 37 5 175774645 175774645 + Silent SNP G G C TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 5 175774645 175774645 G C SNP KIAA1191 ENST00000298569 human ensembl 70_37 -1 known silent c.876 p.L292 1.000 NULL NULL - no_errors KIAA1191 HGNC KIAA1462 57608 genome.wustl.edu 37 10 30317689 30317689 + Missense_Mutation SNP G G T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 10 30317689 30317689 G T SNP KIAA1462 ENST00000375377 human ensembl 70_37 -1 known missense c.1388 p.P463Q 0.016 NULL NULL - no_errors KIAA1462 HGNC KIDINS220 57498 genome.wustl.edu 37 2 8926071 8926071 + Silent SNP G G A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 2 8926071 8926071 G A SNP KIDINS220 ENST00000256707 human ensembl 70_37 -1 known silent c.2029 p.L677 0.831 pfam_KAP_NTPase pfam_KAP_NTPase,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KIDINS220 HGNC KIDINS220 57498 genome.wustl.edu 37 2 8930014 8930014 + Silent SNP G G A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 2 8930014 8930014 G A SNP KIDINS220 ENST00000256707 human ensembl 70_37 -1 known silent c.1617 p.F539 1.000 pfam_KAP_NTPase pfam_KAP_NTPase,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KIDINS220 HGNC KIDINS220 57498 genome.wustl.edu 37 2 8930028 8930028 + Missense_Mutation SNP G G A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 2 8930028 8930028 G A SNP KIDINS220 ENST00000256707 human ensembl 70_37 -1 known missense c.1603 p.L535F 0.341 pfam_KAP_NTPase pfam_KAP_NTPase,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KIDINS220 HGNC KIDINS220 57498 genome.wustl.edu 37 2 8930035 8930035 + Silent SNP G G A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 2 8930035 8930035 G A SNP KIDINS220 ENST00000256707 human ensembl 70_37 -1 known silent c.1596 p.F532 1.000 pfam_KAP_NTPase pfam_KAP_NTPase,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KIDINS220 HGNC KRT40 125115 genome.wustl.edu 37 17 39135243 39135243 + Missense_Mutation SNP C C T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 17 39135243 39135243 C T SNP KRT40 ENST00000377755 human ensembl 70_37 -1 known missense c.1009 p.E337K 0.995 pfam_F pfam_F,prints_Keratin_I - no_errors KRT40 HGNC LAMA2 3908 genome.wustl.edu 37 6 129786308 129786308 + Nonsense_Mutation SNP G G T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 6 129786308 129786308 G T SNP LAMA2 ENST00000421865 human ensembl 70_37 +1 known nonsense c.7174 p.E2392* 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA2 HGNC LDB3 11155 genome.wustl.edu 37 10 88439877 88439877 + Missense_Mutation SNP C C A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 10 88439877 88439877 C A SNP LDB3 ENST00000429277 human ensembl 70_37 +1 known missense c.284 p.P95Q 0.394 superfamily_PDZ pfam_Znf_LIM,pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_ZASP,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ - no_errors LDB3 HGNC LIG4 3981 genome.wustl.edu 37 13 108861165 108861165 + Missense_Mutation SNP C C T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 13 108861165 108861165 C T SNP LIG4 ENST00000356922 human ensembl 70_37 -1 known missense c.2452 p.V818I 0.000 smart_BRCT_dom,pfscan_BRCT_dom pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_DNA_ligase_IV,pfam_BRCT_dom,pfam_DNA_ligase_ATP-dep_C,superfamily_NA-bd_OB-fold-like,superfamily_BRCT_dom,superfamily_DNA_ligase_ATP-dep_N,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep - no_errors LIG4 HGNC LILRA3 11026 genome.wustl.edu 37 19 54804218 54804218 + Nonsense_Mutation SNP G G A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 19 54804218 54804218 G A SNP LILRA3 ENST00000391745 human ensembl 70_37 -1 putative nonsense c.7 p.R3* 0.000 NULL pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like - no_errors LILRA3 HGNC LOC100509445 100509445 genome.wustl.edu 37 12 31267847 31267847 + RNA SNP C C T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 12 31267847 31267847 C T SNP LOC100509445 ENST00000391394 human ensembl 70_37 -1 known rna NULL NULL 0.831 - - - no_errors RP11-551L14.1 Clone_based_vega_gene LOC400891 400891 genome.wustl.edu 37 22 21403289 21403289 + Silent SNP C C T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 22 21403289 21403289 C T SNP LOC400891 ENST00000342608 human ensembl 70_37 +1 known silent c.465 p.L155 0.506 smart_Leu-rich_rpt_RNase_inh_sub-typ smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors AC002472.13 Clone_based_vega_gene LRP5L 91355 genome.wustl.edu 37 22 25750617 25750617 + Missense_Mutation SNP C C T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 22 25750617 25750617 C T SNP LRP5L ENST00000402785 human ensembl 70_37 -1 known missense c.601 p.D201N 1.000 NULL pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt - no_errors LRP5L HGNC LRRC37A3 374819 genome.wustl.edu 37 17 62892159 62892159 + Missense_Mutation SNP G G T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 17 62892159 62892159 G T SNP LRRC37A3 ENST00000319651 human ensembl 70_37 -1 known missense c.1217 p.A406D 0.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC37A3 HGNC MAN2A2 4122 genome.wustl.edu 37 15 91448606 91448606 + Silent SNP C C A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 15 91448606 91448606 C A SNP MAN2A2 ENST00000360468 human ensembl 70_37 +1 known silent c.258 p.P86 0.095 NULL pfam_Glyco_hydro_38_core,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Glyco_hydro-type_carb-bd,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom - no_errors MAN2A2 HGNC MAP4 4134 genome.wustl.edu 37 3 47910709 47910709 + Missense_Mutation SNP C C A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 3 47910709 47910709 C A SNP MAP4 ENST00000360240 human ensembl 70_37 -1 known missense c.2968 p.G990W 1.000 NULL pfam_Tau/MAP_tubulin-bd_rpt - no_errors MAP4 HGNC MDC1 9656 genome.wustl.edu 37 6 30680439 30680439 + Nonsense_Mutation SNP C C T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 6 30680439 30680439 C T SNP MDC1 ENST00000376406 human ensembl 70_37 -1 known nonsense c.1280 p.W427* 0.772 NULL pfam_FHA_dom,superfamily_BRCT_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_BRCT_dom,pfscan_FHA_dom - no_errors MDC1 HGNC METTL8 79828 genome.wustl.edu 37 2 172182597 172182597 + Nonsense_Mutation SNP G G A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 2 172182597 172182597 G A SNP METTL8 ENST00000375258 human ensembl 70_37 -1 putative nonsense c.922 p.R308* 1.000 pirsf_MeTrfase_METTL2_prd pfam_Methyltransf_12,pfam_Methyltransf_11,pirsf_MeTrfase_METTL2_prd - no_errors METTL8 HGNC MICAL3 57553 genome.wustl.edu 37 22 18387564 18387564 + Silent SNP G G A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 22 18387564 18387564 G A SNP MICAL3 ENST00000441493 human ensembl 70_37 -1 known silent c.306 p.A102 1.000 pfam_mOase_FAD-bd,prints_Rng_hydrolase-like pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like - no_errors MICAL3 HGNC MRAP 56246 genome.wustl.edu 37 21 33684046 33684046 + Silent SNP C C A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 21 33684046 33684046 C A SNP MRAP ENST00000303645 human ensembl 70_37 +1 known silent c.258 p.L86 0.067 NULL NULL - no_errors MRAP HGNC MRPL53 116540 genome.wustl.edu 37 2 74699552 74699553 + Frame_Shift_Del DEL AT AT - TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 AT AT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 2 74699552 74699553 AT - DEL MRPL53 ENST00000258105 human ensembl 70_37 -1 known frame_shift_del c.138_137 p.N46fs 0.999:1.000 pfam_Ribosomal_L53_mit,superfamily_Thioredoxin-like_fold pfam_Ribosomal_L53_mit,superfamily_Thioredoxin-like_fold - no_errors MRPL53 HGNC MYO7B 4648 genome.wustl.edu 37 2 128350378 128350378 + Silent SNP C C A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 2 128350378 128350378 C A SNP MYO7B ENST00000389524 human ensembl 70_37 +1 known silent c.2002 p.R668 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_SH3_2,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom - no_errors MYO7B HGNC NAV3 89795 genome.wustl.edu 37 12 78415569 78415569 + Missense_Mutation SNP C C A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 12 78415569 78415569 C A SNP NAV3 ENST00000397909 human ensembl 70_37 +1 known missense c.1950 p.D650E 1.000 NULL pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV3 HGNC NEB 4703 genome.wustl.edu 37 2 152375507 152375507 + Missense_Mutation SNP A A T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 2 152375507 152375507 A T SNP NEB ENST00000397345 human ensembl 70_37 -1 known missense c.22667 p.V7556D 1.000 smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif 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 NHS 4810 genome.wustl.edu 37 X 17744047 17744047 + Missense_Mutation SNP C C G TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e X 17744047 17744047 C G SNP NHS ENST00000380060 human ensembl 70_37 +1 known missense c.1758 p.I586M 0.999 NULL NULL - no_errors NHS HGNC NHS 4810 genome.wustl.edu 37 X 17744197 17744197 + Silent SNP C C G TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e X 17744197 17744197 C G SNP NHS ENST00000380060 human ensembl 70_37 +1 known silent c.1908 p.L636 0.984 NULL NULL - no_errors NHS HGNC NLGN4X 57502 genome.wustl.edu 37 X 5827180 5827180 + Silent SNP G G A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e X 5827180 5827180 G A SNP NLGN4X ENST00000381093 human ensembl 70_37 -1 known silent c.786 p.G262 0.946 pfam_CarbesteraseB,pfam_AB_hydrolase_3 pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN4X HGNC NOD2 64127 genome.wustl.edu 37 16 50750827 50750827 + Missense_Mutation SNP G G A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 16 50750827 50750827 G A SNP NOD2 ENST00000300589 human ensembl 70_37 +1 known missense c.2572 p.G858S 0.994 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_CARD,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD - no_errors NOD2 HGNC NOTCH1 4851 genome.wustl.edu 37 9 139412245 139412245 + Missense_Mutation SNP C C T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 9 139412245 139412245 C T SNP NOTCH1 ENST00000277541 human ensembl 70_37 -1 known missense c.1400 p.C467Y 1.000 pfam_EG-like_dom,pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom,pirsf_Notch,pfscan_EG-like_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 NPRL2 10641 genome.wustl.edu 37 3 50385987 50385987 + Missense_Mutation SNP C C A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 3 50385987 50385987 C A SNP NPRL2 ENST00000232501 human ensembl 70_37 -1 known missense c.691 p.G231C 1.000 pfam_NPR2 pfam_NPR2 - no_errors NPRL2 HGNC NSMAF 8439 genome.wustl.edu 37 8 59511903 59511903 + Missense_Mutation SNP C C A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 8 59511903 59511903 C A SNP NSMAF ENST00000427130 human ensembl 70_37 -1 known missense c.1566 p.Q522H 1.000 pfam_BEACH_dom,superfamily_BEACH_dom,pfscan_BEACH_dom pfam_BEACH_dom,pfam_WD40_repeat,pfam_GRAM,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,smart_GRAM,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NSMAF HGNC NT5DC1 221294 genome.wustl.edu 37 6 116558139 116558139 + Missense_Mutation SNP G G T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 6 116558139 116558139 G T SNP NT5DC1 ENST00000319550 human ensembl 70_37 +1 known missense c.813 p.E271D 0.999 pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom - no_errors NT5DC1 HGNC NUGGC 389643 genome.wustl.edu 37 8 27887920 27887920 + Missense_Mutation SNP C C A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 8 27887920 27887920 C A SNP NUGGC ENST00000341513 human ensembl 70_37 -1 known missense c.1924 p.G642W 1.000 NULL pfam_Dynamin_GTPase - no_errors NUGGC HGNC NXN 64359 genome.wustl.edu 37 17 729261 729261 + Missense_Mutation SNP C C T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 17 729261 729261 C T SNP NXN ENST00000336868 human ensembl 70_37 -1 known missense c.418 p.A140T 1.000 superfamily_Thioredoxin-like_fold pfam_AhpC/TSA,pfam_Redoxin,superfamily_Thioredoxin-like_fold - no_errors NXN HGNC OAS3 4940 genome.wustl.edu 37 12 113401136 113401136 + Silent SNP C C T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 12 113401136 113401136 C T SNP OAS3 ENST00000228928 human ensembl 70_37 +1 known silent c.2103 p.P701 0.640 pfam_2-5-oligoAdlate_synth_1_dom2/C pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N - no_errors OAS3 HGNC OR4D10 390197 genome.wustl.edu 37 11 59245699 59245699 + Missense_Mutation SNP C C A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 11 59245699 59245699 C A SNP OR4D10 ENST00000530162 human ensembl 70_37 +1 known missense c.797 p.P266H 0.715 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4D10 HGNC OR9K2 441639 genome.wustl.edu 37 12 55523629 55523629 + Missense_Mutation SNP G G T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 12 55523629 55523629 G T SNP OR9K2 ENST00000305377 human ensembl 70_37 +1 known missense c.77 p.R26M 0.997 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR9K2 HGNC PAFAH1B1 5048 genome.wustl.edu 37 17 2568719 2568719 + Nonsense_Mutation SNP C C A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 17 2568719 2568719 C A SNP PAFAH1B1 ENST00000397195 human ensembl 70_37 +1 known nonsense c.86 p.S29* 0.997 pfam_LisH_dimerisation_subgr,smart_LisH_dimerisation,pirsf_Dynein_regulator,pfscan_LisH_dimerisation pfam_WD40_repeat,pfam_LisH_dimerisation_subgr,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_WD40_repeat,pirsf_Dynein_regulator,prints_G-protein_beta_WD-40_rep,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors PAFAH1B1 HGNC PAN3 255967 genome.wustl.edu 37 13 28834689 28834689 + Splice_Site SNP G G T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 13 28834689 28834689 G T SNP PAN3 ENST00000380958 human ensembl 70_37 +1 known splice_site c.1353+1 e8+1 1.000 - - - no_errors PAN3 HGNC PAWR 5074 genome.wustl.edu 37 12 80014939 80014939 + Nonsense_Mutation SNP G G A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 12 80014939 80014939 G A SNP PAWR ENST00000328827 human ensembl 70_37 -1 known nonsense c.565 p.R189* 1.000 NULL NULL - no_errors PAWR HGNC PCBP1-AS1 400960 genome.wustl.edu 37 2 70190633 70190633 + Splice_Site SNP C C A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 2 70190633 70190633 C A SNP PCBP1-AS1 ENST00000413436 human ensembl 70_37 -1 known splice_site c.NULL NULL 0.002 - - - no_errors PCBP1-AS1 HGNC PCDHA2 56146 genome.wustl.edu 37 5 140174652 140174652 + Missense_Mutation SNP G G A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 5 140174652 140174652 G A SNP PCDHA2 ENST00000526136 human ensembl 70_37 +1 known missense c.103 p.V35I 0.235 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA2 HGNC PGLYRP4 57115 genome.wustl.edu 37 1 153312886 153312886 + Missense_Mutation SNP G G C TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 1 153312886 153312886 G C SNP PGLYRP4 ENST00000359650 human ensembl 70_37 -1 known missense c.795 p.D265E 0.574 pfam_Amidase_domain,superfamily_Amidase_domain,smart_PGRP_domain_met/bac,smart_Amidase_domain pfam_Amidase_domain,superfamily_Amidase_domain,smart_PGRP_domain_met/bac,smart_Amidase_domain - no_errors PGLYRP4 HGNC PHLPP1 23239 genome.wustl.edu 37 18 60645726 60645726 + Missense_Mutation SNP G G T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 18 60645726 60645726 G T SNP PHLPP1 ENST00000262719 human ensembl 70_37 +1 known missense c.4216 p.A1406S 1.000 pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like pfam_PP2C-like,pfam_Leu-rich_rpt,superfamily_PP2C-like,smart_Leu-rich_rpt_typical-subtyp,smart_PP2C-like,pfscan_Pleckstrin_homology - no_errors PHLPP1 HGNC PIEZO2 63895 genome.wustl.edu 37 18 10773531 10773531 + Silent SNP C C A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 18 10773531 10773531 C A SNP PIEZO2 ENST00000582913 human ensembl 70_37 -1 known silent c.2631 p.G877 0.000 NULL NULL - no_errors PIEZO2 HGNC PLA2G2A 5320 genome.wustl.edu 37 1 20305477 20305477 + RNA DEL C C - TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 1 20305477 20305477 C - DEL PLA2G2A ENST00000461140 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors PLA2G2A HGNC POC1B 282809 genome.wustl.edu 37 12 89815013 89815013 + Silent SNP G G T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 12 89815013 89815013 G T SNP POC1B ENST00000313546 human ensembl 70_37 -1 known silent c.1354 p.R452 1.000 NULL pfam_WD40_repeat,pfam_TIF2A_beta_prop-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors POC1B HGNC POGZ 23126 genome.wustl.edu 37 1 151377334 151377334 + Missense_Mutation SNP C C G TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 1 151377334 151377334 C G SNP POGZ ENST00000271715 human ensembl 70_37 -1 known missense c.4177 p.E1393Q 1.000 NULL pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_Znf_C2H2 - no_errors POGZ HGNC PPP1R21 129285 genome.wustl.edu 37 2 48741940 48741940 + RNA SNP C C A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 2 48741940 48741940 C A SNP PPP1R21 ENST00000476199 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors PPP1R21 HGNC PPP1R3A 5506 genome.wustl.edu 37 7 113518693 113518693 + Silent SNP C C T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 7 113518693 113518693 C T SNP PPP1R3A ENST00000284601 human ensembl 70_37 -1 known silent c.2454 p.E818 0.005 NULL pfam_CBM_21,pfscan_CBM_21 - no_errors PPP1R3A HGNC PRSS58 136541 genome.wustl.edu 37 7 141955406 141955406 + Missense_Mutation SNP C C T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 7 141955406 141955406 C T SNP PRSS58 ENST00000547058 human ensembl 70_37 -1 known missense c.128 p.G43E 0.889 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_Peptidase_S1_S6 - no_errors PRSS58 HGNC PSPC1 55269 genome.wustl.edu 37 13 20279968 20279968 + Missense_Mutation SNP G G A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 13 20279968 20279968 G A SNP PSPC1 ENST00000338910 human ensembl 70_37 -1 known missense c.1220 p.A407V 1.000 NULL pfam_RRM_dom,pfam_NOPS,smart_RRM_dom,pfscan_RRM_dom - no_errors PSPC1 HGNC PTPN14 5784 genome.wustl.edu 37 1 214706239 214706239 + RNA SNP C C A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 1 214706239 214706239 C A SNP PTPN14 ENST00000491277 human ensembl 70_37 -1 putative rna NULL NULL 0.996 - - - no_errors PTPN14 HGNC PTPN23 25930 genome.wustl.edu 37 3 47447988 47447988 + Missense_Mutation SNP G G T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 3 47447988 47447988 G T SNP PTPN23 ENST00000265562 human ensembl 70_37 +1 known missense c.645 p.K215N 0.998 pfam_BRO1_dom,pfscan_BRO1_dom pfam_BRO1_dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_BRO1_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN23 HGNC PTPRD 5789 genome.wustl.edu 37 9 8504366 8504366 + Missense_Mutation SNP G G T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 9 8504366 8504366 G T SNP PTPRD ENST00000356435 human ensembl 70_37 -1 known missense c.1717 p.Q573K 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRD HGNC RB1CC1 9821 genome.wustl.edu 37 8 53570460 53570460 + Silent SNP C C G TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 8 53570460 53570460 C G SNP RB1CC1 ENST00000025008 human ensembl 70_37 -1 known silent c.1929 p.V643 0.005 NULL pfam_Autophagy-rel_p11 - no_errors RB1CC1 HGNC RCN2 5955 genome.wustl.edu 37 15 77239850 77239850 + Missense_Mutation SNP G G T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 15 77239850 77239850 G T SNP RCN2 ENST00000394885 human ensembl 70_37 +1 known missense c.650 p.W217L 1.000 smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors RCN2 HGNC RHBDF2 79651 genome.wustl.edu 37 17 74475004 74475004 + Nonsense_Mutation SNP C C A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 17 74475004 74475004 C A SNP RHBDF2 ENST00000313080 human ensembl 70_37 -1 known nonsense c.643 p.G215* 1.000 pfam_Rhomboid_SP pfam_Rhomboid_SP,pfam_Peptidase_S54_rhomboid_dom - no_errors RHBDF2 HGNC RHPN2 85415 genome.wustl.edu 37 19 33535269 33535269 + Missense_Mutation SNP C C T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 19 33535269 33535269 C T SNP RHPN2 ENST00000254260 human ensembl 70_37 -1 known missense c.71 p.G24D 1.000 superfamily_HR1_rho-bd pfam_BRO1_dom,pfam_HR1_rho-bd,superfamily_HR1_rho-bd,superfamily_PDZ,smart_HR1_rho-bd,smart_PDZ,pfscan_BRO1_dom - no_errors RHPN2 HGNC RICTOR 253260 genome.wustl.edu 37 5 38957826 38957826 + Silent SNP G G A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 5 38957826 38957826 G A SNP RICTOR ENST00000296782 human ensembl 70_37 -1 known silent c.2427 p.L809 0.797 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors RICTOR HGNC RPE65 6121 genome.wustl.edu 37 1 68906582 68906582 + Missense_Mutation SNP A A T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 1 68906582 68906582 A T SNP RPE65 ENST00000262340 human ensembl 70_37 -1 known missense c.597 p.N199K 0.997 pfam_Carotenoid_Oase pfam_Carotenoid_Oase - no_errors RPE65 HGNC SCAF4 57466 genome.wustl.edu 37 21 33065619 33065619 + Missense_Mutation SNP C C T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 21 33065619 33065619 C T SNP SCAF4 ENST00000286835 human ensembl 70_37 -1 known missense c.1501 p.E501K 0.997 NULL pfam_RNA_pol_II-bd,pfam_RRM_dom,superfamily_ENTH_VHS,smart_RNA_polymerase_II_lsu_CTD,smart_RRM_dom,pfscan_RRM_dom - no_errors SCAF4 HGNC SCN5A 6331 genome.wustl.edu 37 3 38595846 38595846 + Silent SNP C C A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 3 38595846 38595846 C A SNP SCN5A ENST00000333535 human ensembl 70_37 -1 known silent c.4737 p.L1579 0.926 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu - no_errors SCN5A HGNC SCN8A 6334 genome.wustl.edu 37 12 52163093 52163093 + Missense_Mutation SNP G G A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 12 52163093 52163093 G A SNP SCN8A ENST00000354534 human ensembl 70_37 +1 known missense c.3346 p.E1116K 1.000 pfam_Na_trans_assoc pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,prints_Na_channel_a8su,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN8A HGNC SCUBE2 57758 genome.wustl.edu 37 11 9074758 9074758 + Silent SNP C C T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 11 9074758 9074758 C T SNP SCUBE2 ENST00000457346 human ensembl 70_37 -1 known silent c.1335 p.V445 0.960 NULL pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EGF-like_Ca-bd,pfam_EG-like_dom,pfam_CUB,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_CUB,pfscan_CUB,pfscan_EG-like_dom - no_errors SCUBE2 HGNC SEMA3E 9723 genome.wustl.edu 37 7 83021871 83021871 + Missense_Mutation SNP C C A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 7 83021871 83021871 C A SNP SEMA3E ENST00000307792 human ensembl 70_37 -1 known missense c.1667 p.R556M 1.000 superfamily_Plexin-like_fold,smart_Plexin-like pfam_Semaphorin/CD100_Ag,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag,pfscan_Ig-like - no_errors SEMA3E HGNC SLC25A44 9673 genome.wustl.edu 37 1 156177791 156177791 + Missense_Mutation SNP G G A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 1 156177791 156177791 G A SNP SLC25A44 ENST00000359511 human ensembl 70_37 +1 known missense c.740 p.R247Q 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A44 HGNC SLC38A3 10991 genome.wustl.edu 37 3 50251894 50251894 + RNA SNP C C A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 3 50251894 50251894 C A SNP SLC38A3 ENST00000414604 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors SLC38A3 HGNC SLC38A5 92745 genome.wustl.edu 37 X 48317943 48317943 + Missense_Mutation SNP G G C TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e X 48317943 48317943 G C SNP SLC38A5 ENST00000317669 human ensembl 70_37 -1 known missense c.1296 p.F432L 0.001 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC38A5 HGNC SOCS6 9306 genome.wustl.edu 37 18 67993397 67993397 + Missense_Mutation SNP G G A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 18 67993397 67993397 G A SNP SOCS6 ENST00000397942 human ensembl 70_37 +1 known missense c.1493 p.R498H 1.000 pfam_SOCS_C,smart_SOCS_C,pfscan_SOCS_C pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2 - no_errors SOCS6 HGNC SOX15 6665 genome.wustl.edu 37 17 7491864 7491864 + Silent SNP G G T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 17 7491864 7491864 G T SNP SOX15 ENST00000250055 human ensembl 70_37 -1 known silent c.534 p.G178 0.994 NULL pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors SOX15 HGNC SOX5 6660 genome.wustl.edu 37 12 23999045 23999045 + Missense_Mutation SNP C C T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 12 23999045 23999045 C T SNP SOX5 ENST00000451604 human ensembl 70_37 -1 known missense c.353 p.R118Q 1.000 NULL pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors SOX5 HGNC SPTAN1 6709 genome.wustl.edu 37 9 131395181 131395181 + Missense_Mutation SNP C C T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 9 131395181 131395181 C T SNP SPTAN1 ENST00000358161 human ensembl 70_37 +1 known missense c.7255 p.R2419W 1.000 pfam_EF-hand_Ca_insen pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_EF-hand,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain - no_errors SPTAN1 HGNC SSPO 23145 genome.wustl.edu 37 7 149493752 149493752 + RNA SNP G G T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 7 149493752 149493752 G T SNP SSPO ENST00000378016 human ensembl 70_37 +1 known rna NULL NULL 0.030 - - - no_errors SSPO HGNC STOML3 161003 genome.wustl.edu 37 13 39541032 39541032 + Missense_Mutation SNP G G T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 13 39541032 39541032 G T SNP STOML3 ENST00000379631 human ensembl 70_37 -1 known missense c.806 p.P269H 1.000 NULL pfam_Band_7,smart_Band_7,prints_Stomatin - no_errors STOML3 HGNC TAAR5 9038 genome.wustl.edu 37 6 132910643 132910643 + Nonsense_Mutation SNP G G T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 6 132910643 132910643 G T SNP TAAR5 ENST00000258034 human ensembl 70_37 -1 known nonsense c.183 p.Y61* 0.963 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Trace_amine_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Trace_amine_rcpt - no_errors TAAR5 HGNC TDRD6 221400 genome.wustl.edu 37 6 46661389 46661389 + Missense_Mutation SNP G G C TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 6 46661389 46661389 G C SNP TDRD6 ENST00000316081 human ensembl 70_37 +1 known missense c.5524 p.D1842H 0.262 NULL pfam_Tudor,smart_Tudor,pfscan_Tudor - no_errors TDRD6 HGNC TENM4 26011 genome.wustl.edu 37 11 78369502 78369502 + Silent SNP C C A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 11 78369502 78369502 C A SNP TENM4 ENST00000278550 human ensembl 70_37 -1 known silent c.7911 p.G2637 0.998 NULL 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 TESPA1 9840 genome.wustl.edu 37 12 55354986 55354986 + Missense_Mutation SNP G G T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 12 55354986 55354986 G T SNP TESPA1 ENST00000316577 human ensembl 70_37 -1 known missense c.1533 p.H511Q 0.001 NULL NULL - no_errors TESPA1 HGNC TMEM104 54868 genome.wustl.edu 37 17 72832676 72832676 + Silent SNP G G A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 17 72832676 72832676 G A SNP TMEM104 ENST00000335464 human ensembl 70_37 +1 known silent c.1341 p.R447 0.989 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors TMEM104 HGNC TRA2A 29896 genome.wustl.edu 37 7 23545179 23545179 + Silent SNP C C T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 7 23545179 23545179 C T SNP TRA2A ENST00000297071 human ensembl 70_37 -1 known silent c.848 p.*283 0.971 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors TRA2A HGNC TRA2B 6434 genome.wustl.edu 37 3 185655769 185655769 + RNA SNP C C G TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 3 185655769 185655769 C G SNP TRA2B ENST00000465245 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors TRA2B HGNC TRABD2B 388630 genome.wustl.edu 37 1 48460235 48460235 + Missense_Mutation SNP C C A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 1 48460235 48460235 C A SNP TRABD2B ENST00000371865 human ensembl 70_37 -1 known missense c.137 p.R46L 0.988 NULL superfamily_SuperAg_toxin_C_Staph/Strep - no_errors TRABD2B HGNC TSNAXIP1 55815 genome.wustl.edu 37 16 67841097 67841097 + Silent SNP G G C TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 16 67841097 67841097 G C SNP TSNAXIP1 ENST00000568990 human ensembl 70_37 +1 known silent c.45 p.S15 0.099 NULL NULL - no_errors TSNAXIP1 HGNC TTLL5 23093 genome.wustl.edu 37 14 76243152 76243152 + Silent SNP G G T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 14 76243152 76243152 G T SNP TTLL5 ENST00000298832 human ensembl 70_37 +1 known silent c.2346 p.G782 0.934 NULL pfam_Tub_tyr_ligase - no_errors TTLL5 HGNC TTN 7273 genome.wustl.edu 37 2 179446852 179446852 + Missense_Mutation SNP C C G TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 2 179446852 179446852 C G SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.58540 p.D19514H 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 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 UBR4 23352 genome.wustl.edu 37 1 19401341 19401341 + Silent SNP C C T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 1 19401341 19401341 C T SNP UBR4 ENST00000375267 human ensembl 70_37 -1 known silent c.15600 p.L5200 1.000 NULL superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR4 HGNC ULK4 54986 genome.wustl.edu 37 3 41723000 41723000 + Missense_Mutation SNP G G T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 3 41723000 41723000 G T SNP ULK4 ENST00000301831 human ensembl 70_37 -1 known missense c.2977 p.Q993K 1.000 superfamily_ARM-type_fold pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors ULK4 HGNC UNC79 57578 genome.wustl.edu 37 14 94008991 94008991 + Silent SNP C C T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 14 94008991 94008991 C T SNP UNC79 ENST00000553484 human ensembl 70_37 +1 known silent c.1704 p.R568 0.999 NULL superfamily_ARM-type_fold - no_errors UNC79 HGNC USP22 23326 genome.wustl.edu 37 17 20919144 20919144 + Silent SNP C C T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 17 20919144 20919144 C T SNP USP22 ENST00000261497 human ensembl 70_37 -1 known silent c.759 p.R253 0.999 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfam_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19 - no_errors USP22 HGNC UST 10090 genome.wustl.edu 37 6 149340342 149340342 + Missense_Mutation SNP C C A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 6 149340342 149340342 C A SNP UST ENST00000367463 human ensembl 70_37 +1 known missense c.749 p.P250Q 1.000 pfam_Sulfotransferase,pfam_Gal-3-0_sulfotransfrase pfam_Sulfotransferase,pfam_Gal-3-0_sulfotransfrase - no_errors UST HGNC WDR81 124997 genome.wustl.edu 37 17 1634405 1634405 + Missense_Mutation SNP G G A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 17 1634405 1634405 G A SNP WDR81 ENST00000409644 human ensembl 70_37 +1 known missense c.4010 p.R1337H 1.000 NULL pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Kinase-like_dom,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR81 HGNC XYLT1 64131 genome.wustl.edu 37 16 17292212 17292212 + Silent SNP G G T TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 16 17292212 17292212 G T SNP XYLT1 ENST00000261381 human ensembl 70_37 -1 known silent c.1146 p.R382 0.002 pfam_Glyco_trans_14 pfam_XylT,pfam_Glyco_trans_14 - no_errors XYLT1 HGNC ZNF423 23090 genome.wustl.edu 37 16 49671686 49671686 + Silent SNP G G A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 16 49671686 49671686 G A SNP ZNF423 ENST00000262383 human ensembl 70_37 -1 known silent c.1377 p.H459 0.999 smart_Znf_C2H2-like pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF423 HGNC ZNF609 23060 genome.wustl.edu 37 15 64967417 64967417 + Missense_Mutation SNP C C G TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 15 64967417 64967417 C G SNP ZNF609 ENST00000326648 human ensembl 70_37 +1 known missense c.2364 p.I788M 1.000 NULL pfscan_Znf_C2H2 - no_errors ZNF609 HGNC ZNF688 146542 genome.wustl.edu 37 16 30581408 30581408 + Silent SNP G G A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 16 30581408 30581408 G A SNP ZNF688 ENST00000223459 human ensembl 70_37 -1 known silent c.660 p.F220 0.998 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF688 HGNC ZNF827 152485 genome.wustl.edu 37 4 146823874 146823874 + Missense_Mutation SNP C C A TCGA-MU-A5YI-01A-11D-A32I-09 TCGA-MU-A5YI-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cb846086-f95a-42e7-b182-0841596aafe2 f75e2c1e-af33-4c30-8df4-57c297cb5e0e 4 146823874 146823874 C A SNP ZNF827 ENST00000508784 human ensembl 70_37 -1 known missense c.537 p.Q179H 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF827 HGNC