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_WU start_WU stop_WU reference_WU variant_WU type_WU gene_name_WU transcript_name_WU transcript_species_WU transcript_source_WU transcript_version_WU strand_WU transcript_status_WU trv_type_WU c_position_WU amino_acid_change_WU ucsc_cons_WU domain_WU all_domains_WU deletion_substructures_WU transcript_error_WU default_gene_name_WU gene_name_source_WU ensembl_gene_id normal_ref_reads normal_var_reads normal_vaf tumor_ref_reads tumors_var_reads tumor_vaf EVS_EA EVS_AA EVS_All ADAM23 0 genome.wustl.edu 37 2 207406802 207406802 + Silent SNP A A G TCGA-E2-A1L8-01A-11D-A13L-09 TCGA-E2-A1L8-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 04a7762f-2cbb-498b-ab4e-921406c1aec0 7931bb8b-3c42-4cee-b39b-86371aa369f6 2 207406802 207406802 A G SNP ADAM23 ENST00000264377 human ensembl 69_37n +1 known silent c.600 p.G200 0.683 pfam_Peptidase_M12B_N 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 ADAM23 HGNC ENSG00000114948 53 0 0.00 37 11 22.92 - - - AKAP4 0 genome.wustl.edu 37 X 49958245 49958245 + Silent SNP C C T TCGA-E2-A1L8-01A-11D-A13L-09 TCGA-E2-A1L8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 04a7762f-2cbb-498b-ab4e-921406c1aec0 7931bb8b-3c42-4cee-b39b-86371aa369f6 X 49958245 49958245 C T SNP AKAP4 ENST00000358526 human ensembl 69_37n -1 known silent c.1119 p.R373 0.674 pfam_AKAP_110_C,smart_AKAP_110 pfam_AKAP_110_C,pfam_RII_binding_1,smart_AKAP_110 - no_errors AKAP4 HGNC ENSG00000147081 44 0 0.00 45 9 16.67 - - - ARHGEF10L 0 genome.wustl.edu 37 1 17949512 17949512 + Missense_Mutation SNP G G A TCGA-E2-A1L8-01A-11D-A13L-09 TCGA-E2-A1L8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 04a7762f-2cbb-498b-ab4e-921406c1aec0 7931bb8b-3c42-4cee-b39b-86371aa369f6 1 17949512 17949512 G A SNP ARHGEF10L ENST00000361221 human ensembl 69_37n +1 known missense c.1042 p.E348K 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF10L HGNC ENSG00000074964 18 0 0.00 14 6 30.00 - - - ATAD5 0 genome.wustl.edu 37 17 29214375 29214375 + Missense_Mutation SNP C C G TCGA-E2-A1L8-01A-11D-A13L-09 TCGA-E2-A1L8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 04a7762f-2cbb-498b-ab4e-921406c1aec0 7931bb8b-3c42-4cee-b39b-86371aa369f6 17 29214375 29214375 C G SNP ATAD5 ENST00000321990 human ensembl 69_37n +1 known missense c.4243 p.P1415A 0.982 NULL pfam_ATPase_AAA_core,smart_AAA+_ATPase - no_errors ATAD5 HGNC ENSG00000176208 66 0 0.00 31 24 43.64 - - - C5orf42 0 genome.wustl.edu 37 5 37169187 37169187 + Missense_Mutation SNP A A T TCGA-E2-A1L8-01A-11D-A13L-09 TCGA-E2-A1L8-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 04a7762f-2cbb-498b-ab4e-921406c1aec0 7931bb8b-3c42-4cee-b39b-86371aa369f6 5 37169187 37169187 A T SNP C5orf42 ENST00000425232 human ensembl 69_37n -1 known missense c.6939 p.N2313K 0.350 NULL superfamily_Quino_amine_DH_bsu - no_errors C5orf42 HGNC ENSG00000197603 159 0 0.00 79 59 42.45 - - - C5orf60 0 genome.wustl.edu 37 5 179071958 179071958 + Missense_Mutation SNP C C G TCGA-E2-A1L8-01A-11D-A13L-09 TCGA-E2-A1L8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 04a7762f-2cbb-498b-ab4e-921406c1aec0 7931bb8b-3c42-4cee-b39b-86371aa369f6 5 179071958 179071958 C G SNP C5orf60 ENST00000448248 human ensembl 69_37n -1 known missense c.64 p.D22H 0.027 NULL NULL - no_errors C5orf60 HGNC ENSG00000204661 17 0 0.00 19 6 24.00 - - - C9orf89 0 genome.wustl.edu 37 9 95869982 95869982 + Missense_Mutation SNP C C G TCGA-E2-A1L8-01A-11D-A13L-09 TCGA-E2-A1L8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 04a7762f-2cbb-498b-ab4e-921406c1aec0 7931bb8b-3c42-4cee-b39b-86371aa369f6 9 95869982 95869982 C G SNP C9orf89 ENST00000466409 human ensembl 69_37n +1 known missense c.34 p.Q12E 0.996 NULL superfamily_DEATH-like - no_errors C9orf89 HGNC ENSG00000165233 28 0 0.00 23 9 28.12 - - - CDH1 0 genome.wustl.edu 37 16 68844245 68844245 + Splice_Site SNP G G A TCGA-E2-A1L8-01A-11D-A13L-09 TCGA-E2-A1L8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 04a7762f-2cbb-498b-ab4e-921406c1aec0 7931bb8b-3c42-4cee-b39b-86371aa369f6 16 68844245 68844245 G A SNP CDH1 ENST00000261769 human ensembl 69_37n +1 known splice_site c.832+1 e6+1 1.000 - - - no_errors CDH1 HGNC ENSG00000039068 44 0 0.00 11 13 54.17 - - - CLEC12A 0 genome.wustl.edu 37 12 10134707 10134707 + Missense_Mutation SNP A A C TCGA-E2-A1L8-01A-11D-A13L-09 TCGA-E2-A1L8-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 04a7762f-2cbb-498b-ab4e-921406c1aec0 7931bb8b-3c42-4cee-b39b-86371aa369f6 12 10134707 10134707 A C SNP CLEC12A ENST00000355690 human ensembl 69_37n +1 known missense c.650 p.N217T 0.000 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CLEC12A HGNC ENSG00000172322 85 0 0.00 42 12 22.22 - - - CNTRL 0 genome.wustl.edu 37 9 123917201 123917201 + Missense_Mutation SNP C C G TCGA-E2-A1L8-01A-11D-A13L-09 TCGA-E2-A1L8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 04a7762f-2cbb-498b-ab4e-921406c1aec0 7931bb8b-3c42-4cee-b39b-86371aa369f6 9 123917201 123917201 C G SNP CNTRL ENST00000373845 human ensembl 69_37n +1 known missense c.382 p.L128V 0.001 NULL superfamily_tRNA-bd_arm - no_errors CNTRL HGNC ENSG00000119397 126 0 0.00 140 27 16.17 - - - DNAH9 0 genome.wustl.edu 37 17 11650986 11650986 + Missense_Mutation SNP G G A TCGA-E2-A1L8-01A-11D-A13L-09 TCGA-E2-A1L8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 04a7762f-2cbb-498b-ab4e-921406c1aec0 7931bb8b-3c42-4cee-b39b-86371aa369f6 17 11650986 11650986 G A SNP DNAH9 ENST00000262442 human ensembl 69_37n +1 known missense c.6513 p.M2171I 1.000 pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH9 HGNC ENSG00000007174 62 0 0.00 25 10 28.57 - - - DTX2 0 genome.wustl.edu 37 7 76111950 76111950 + Missense_Mutation SNP C C G TCGA-E2-A1L8-01A-11D-A13L-09 TCGA-E2-A1L8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 04a7762f-2cbb-498b-ab4e-921406c1aec0 7931bb8b-3c42-4cee-b39b-86371aa369f6 7 76111950 76111950 C G SNP DTX2 ENST00000324432 human ensembl 69_37n +1 known missense c.394 p.L132V 0.998 pfam_WWE-dom,smart_WWE-dom_subgr,pfscan_WWE-dom pfam_WWE-dom,smart_WWE-dom_subgr,smart_Znf_RING,pfscan_WWE-dom,pfscan_Znf_RING - no_errors DTX2 Clone_based_vega_gene ENSG00000091073 30 0 0.00 8 11 57.89 - - - EIF2D 0 genome.wustl.edu 37 1 206769083 206769083 + Missense_Mutation SNP C C G TCGA-E2-A1L8-01A-11D-A13L-09 TCGA-E2-A1L8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 04a7762f-2cbb-498b-ab4e-921406c1aec0 7931bb8b-3c42-4cee-b39b-86371aa369f6 1 206769083 206769083 C G SNP EIF2D ENST00000271764 human ensembl 69_37n -1 known missense c.1493 p.R498T 1.000 pfam_TIF_SUI1,superfamily_TIF_SUI1,pfscan_TIF_SUI1 pfam_TIF_SUI1,superfamily_TIF_SUI1,superfamily_SWIB_MDM2_domain,superfamily_PUA-like_domain,smart_PUA,pfscan_PUA,pfscan_TIF_SUI1 - no_errors EIF2D HGNC ENSG00000143486 96 0 0.00 36 100 73.53 - - - EIF4H 0 genome.wustl.edu 37 7 73609623 73609623 + Silent SNP A A G TCGA-E2-A1L8-01A-11D-A13L-09 TCGA-E2-A1L8-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 04a7762f-2cbb-498b-ab4e-921406c1aec0 7931bb8b-3c42-4cee-b39b-86371aa369f6 7 73609623 73609623 A G SNP EIF4H ENST00000265753 human ensembl 69_37n +1 known silent c.732 p.Q244 0.003 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors EIF4H HGNC ENSG00000106682 41 0 0.00 21 17 44.74 - - - FLI1 0 genome.wustl.edu 37 11 128642719 128642719 + Missense_Mutation SNP A A G TCGA-E2-A1L8-01A-11D-A13L-09 TCGA-E2-A1L8-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 04a7762f-2cbb-498b-ab4e-921406c1aec0 7931bb8b-3c42-4cee-b39b-86371aa369f6 11 128642719 128642719 A G SNP FLI1 ENST00000429175 human ensembl 69_37n +1 known missense c.428 p.E143G 1.000 pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom pfam_Ets,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets,pfscan_Ets,prints_Ets - no_errors FLI1 HGNC ENSG00000151702 53 0 0.00 25 6 19.35 - - - FRG1B 0 genome.wustl.edu 37 20 29612363 29612363 + RNA SNP G G C TCGA-E2-A1L8-01A-11D-A13L-09 TCGA-E2-A1L8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 04a7762f-2cbb-498b-ab4e-921406c1aec0 7931bb8b-3c42-4cee-b39b-86371aa369f6 20 29612363 29612363 G C SNP FRG1B ENST00000482423 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors FRG1B HGNC ENSG00000149531 8 0 0.00 4 4 50.00 - - - GCC2 0 genome.wustl.edu 37 2 109092242 109092242 + Missense_Mutation SNP G G T TCGA-E2-A1L8-01A-11D-A13L-09 TCGA-E2-A1L8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 04a7762f-2cbb-498b-ab4e-921406c1aec0 7931bb8b-3c42-4cee-b39b-86371aa369f6 2 109092242 109092242 G T SNP GCC2 ENST00000309863 human ensembl 69_37n +1 known missense c.2996 p.R999L 0.000 NULL pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,smart_GRIP,pfscan_GRIP - no_errors GCC2 HGNC ENSG00000135968 20 0 0.00 10 8 44.44 - - - GNS 0 genome.wustl.edu 37 12 65133264 65133264 + Missense_Mutation SNP G G A TCGA-E2-A1L8-01A-11D-A13L-09 TCGA-E2-A1L8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 04a7762f-2cbb-498b-ab4e-921406c1aec0 7931bb8b-3c42-4cee-b39b-86371aa369f6 12 65133264 65133264 G A SNP GNS ENST00000540196 human ensembl 69_37n -1 novel missense c.349 p.L117F 0.998 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region GNS HGNC ENSG00000135677 85 0 0.00 68 41 37.61 - - - GRIK2 0 genome.wustl.edu 37 6 102376327 102376327 + Silent SNP A A C TCGA-E2-A1L8-01A-11D-A13L-09 TCGA-E2-A1L8-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 04a7762f-2cbb-498b-ab4e-921406c1aec0 7931bb8b-3c42-4cee-b39b-86371aa369f6 6 102376327 102376327 A C SNP GRIK2 ENST00000421544 human ensembl 69_37n +1 known silent c.1905 p.I635 1.000 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,prints_NMDA_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 GRIK2 HGNC ENSG00000164418 139 0 0.00 74 26 26.00 - - - IGHA1 0 genome.wustl.edu 37 14 106173790 106173790 + Silent SNP A A G TCGA-E2-A1L8-01A-11D-A13L-09 TCGA-E2-A1L8-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 04a7762f-2cbb-498b-ab4e-921406c1aec0 7931bb8b-3c42-4cee-b39b-86371aa369f6 14 106173790 106173790 A G SNP IGHA1 ENST00000390547 human ensembl 69_37n -1 known silent c.777 p.D259 0.000 pfam_Ig_C1-set,pfam_CD80_C2-set,smart_Ig_C1-set,pfscan_Ig-like pfam_Ig_C1-set,pfam_CD80_C2-set,smart_Ig_C1-set,pfscan_Ig-like - no_start_codon IGHA1 HGNC ENSG00000211895 10 0 0.00 27 21 43.75 - - - LAMB3 0 genome.wustl.edu 37 1 209803184 209803184 + Missense_Mutation SNP C C T TCGA-E2-A1L8-01A-11D-A13L-09 TCGA-E2-A1L8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 04a7762f-2cbb-498b-ab4e-921406c1aec0 7931bb8b-3c42-4cee-b39b-86371aa369f6 1 209803184 209803184 C T SNP LAMB3 ENST00000356082 human ensembl 69_37n -1 known missense c.1030 p.D344N 1.000 pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB3 HGNC ENSG00000196878 52 0 0.00 62 21 25.30 - - - LAMC1 0 genome.wustl.edu 37 1 183093773 183093773 + Missense_Mutation SNP A A C TCGA-E2-A1L8-01A-11D-A13L-09 TCGA-E2-A1L8-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 04a7762f-2cbb-498b-ab4e-921406c1aec0 7931bb8b-3c42-4cee-b39b-86371aa369f6 1 183093773 183093773 A C SNP LAMC1 ENST00000258341 human ensembl 69_37n +1 known missense c.2409 p.R803S 0.823 pfam_EGF_laminin,smart_EGF-like,smart_EGF_laminin pfam_Laminin_N,pfam_EGF_laminin,pfam_Laminin_B_type_IV,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMC1 HGNC ENSG00000135862 81 0 0.00 89 16 15.24 - - - LMNA 0 genome.wustl.edu 37 1 156104249 156104249 + Missense_Mutation SNP G G A TCGA-E2-A1L8-01A-11D-A13L-09 TCGA-E2-A1L8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 04a7762f-2cbb-498b-ab4e-921406c1aec0 7931bb8b-3c42-4cee-b39b-86371aa369f6 1 156104249 156104249 G A SNP LMNA ENST00000368300 human ensembl 69_37n +1 known missense c.569 p.R190Q 1.000 pfam_F pfam_F,pfam_Lamin_tail_dom,superfamily_Prefoldin - no_errors LMNA HGNC ENSG00000160789 60 0 0.00 65 16 19.51 - - - MUC12 0 genome.wustl.edu 37 7 100636820 100636820 + Silent SNP T T C TCGA-E2-A1L8-01A-11D-A13L-09 TCGA-E2-A1L8-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 04a7762f-2cbb-498b-ab4e-921406c1aec0 7931bb8b-3c42-4cee-b39b-86371aa369f6 7 100636820 100636820 T C SNP MUC12 ENST00000379442 human ensembl 69_37n +1 known silent c.3405 p.T1135 0.001 NULL pfam_SEA - no_errors MUC12 HGNC ENSG00000205277 73 0 0.00 13 2 13.33 - - - NUP210L 0 genome.wustl.edu 37 1 153974380 153974380 + Missense_Mutation SNP T T C TCGA-E2-A1L8-01A-11D-A13L-09 TCGA-E2-A1L8-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 04a7762f-2cbb-498b-ab4e-921406c1aec0 7931bb8b-3c42-4cee-b39b-86371aa369f6 1 153974380 153974380 T C SNP NUP210L ENST00000368559 human ensembl 69_37n -1 known missense c.5012 p.Y1671C 0.993 NULL pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,smart_Big_2 - no_errors NUP210L HGNC ENSG00000143552 69 0 0.00 30 49 62.03 - - - OR1B1 0 genome.wustl.edu 37 9 125391118 125391118 + Missense_Mutation SNP G G A TCGA-E2-A1L8-01A-11D-A13L-09 TCGA-E2-A1L8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 04a7762f-2cbb-498b-ab4e-921406c1aec0 7931bb8b-3c42-4cee-b39b-86371aa369f6 9 125391118 125391118 G A SNP OR1B1 ENST00000304833 human ensembl 69_37n -1 novel missense c.697 p.R233C 0.001 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR1B1 HGNC ENSG00000171484 36 0 0.00 18 5 21.74 - - - PIK3CA 0 genome.wustl.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A G TCGA-E2-A1L8-01A-11D-A13L-09 TCGA-E2-A1L8-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 04a7762f-2cbb-498b-ab4e-921406c1aec0 7931bb8b-3c42-4cee-b39b-86371aa369f6 3 178952085 178952085 A G SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.3140 p.H1047R 1.000 superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 54 0 0.00 13 31 70.45 - - - PTPDC1 0 genome.wustl.edu 37 9 96847676 96847676 + Missense_Mutation SNP C C A TCGA-E2-A1L8-01A-11D-A13L-09 TCGA-E2-A1L8-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 04a7762f-2cbb-498b-ab4e-921406c1aec0 7931bb8b-3c42-4cee-b39b-86371aa369f6 9 96847676 96847676 C A SNP PTPDC1 ENST00000375360 human ensembl 69_37n +1 known missense c.226 p.Q76K 1.000 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase - no_errors PTPDC1 HGNC ENSG00000158079 36 0 0.00 20 11 35.48 - - - RBL1 0 genome.wustl.edu 37 20 35661256 35661256 + Missense_Mutation SNP T T G TCGA-E2-A1L8-01A-11D-A13L-09 TCGA-E2-A1L8-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 04a7762f-2cbb-498b-ab4e-921406c1aec0 7931bb8b-3c42-4cee-b39b-86371aa369f6 20 35661256 35661256 T G SNP RBL1 ENST00000373664 human ensembl 69_37n -1 known missense c.2194 p.I732L 1.000 NULL pfam_RB_A,pfam_RB_B,pfam_DUF3452_retinoblatoma-assoc,pfam_Rb_C,superfamily_Cyclin-like,smart_Cyclin-like - no_errors RBL1 HGNC ENSG00000080839 48 0 0.00 41 7 14.58 - - - SMARCA2 0 genome.wustl.edu 37 9 2054717 2054717 + Missense_Mutation SNP G G T TCGA-E2-A1L8-01A-11D-A13L-09 TCGA-E2-A1L8-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 04a7762f-2cbb-498b-ab4e-921406c1aec0 7931bb8b-3c42-4cee-b39b-86371aa369f6 9 2054717 2054717 G T SNP SMARCA2 ENST00000349721 human ensembl 69_37n +1 known missense c.1167 p.Q389H 0.888 NULL pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_HSA,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_Bromodomain,superfamily_RNaseH-like_dom,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,prints_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain - no_errors SMARCA2 HGNC ENSG00000080503 80 0 0.00 41 35 46.05 - - - TUBBP5 0 genome.wustl.edu 37 9 141069844 141069844 + RNA SNP T T C TCGA-E2-A1L8-01A-11D-A13L-09 TCGA-E2-A1L8-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 04a7762f-2cbb-498b-ab4e-921406c1aec0 7931bb8b-3c42-4cee-b39b-86371aa369f6 9 141069844 141069844 T C SNP TUBBP5 ENST00000290377 human ensembl 69_37n +1 known rna NULL NULL 0.991 - - - no_errors TUBBP5 HGNC ENSG00000159247 11 0 0.00 12 5 29.41 - - - ZIC2 0 genome.wustl.edu 37 13 100635003 100635006 + Frame_Shift_Del DEL GCGG GCGG - TCGA-E2-A1L8-01A-11D-A13L-09 TCGA-E2-A1L8-10A-01D-A13O-09 GCGG GCGG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 04a7762f-2cbb-498b-ab4e-921406c1aec0 7931bb8b-3c42-4cee-b39b-86371aa369f6 13 100635003 100635006 GCGG - DEL ZIC2 ENST00000376335 human ensembl 69_37n +1 known frame_shift_del c.685_688 p.A229fs 1.000:1.000:1.000:1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZIC2 HGNC ENSG00000043355 16 0 0.00 4 2 33.33 - - -