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 ALCAM 0 genome.wustl.edu 37 3 105253613 105253613 + Missense_Mutation SNP C C T TCGA-BH-A0BQ-01A-21D-A10Y-09 TCGA-BH-A0BQ-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8bc2c5ac-51b7-4140-9d6d-43ebfe0bde17 27facd2e-781d-4772-bb8c-7a1bc664c53e 3 105253613 105253613 C T SNP ALCAM ENST00000465413 human ensembl 69_37n +1 novel missense c.196 p.H66Y 0.998 pfam_CD80_C2-set,pfscan_Ig-like pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region ALCAM HGNC ENSG00000170017 138 0 0.00 123 19 13.38 - - - ALCAM 0 genome.wustl.edu 37 3 105253613 105253613 + Missense_Mutation SNP C C T TCGA-BH-A0BQ-01A-21D-A10Y-09 TCGA-BH-A0BQ-11A-33D-A10Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8bc2c5ac-51b7-4140-9d6d-43ebfe0bde17 828c2886-4775-457c-a276-b7825c65d67a 3 105253613 105253613 C T SNP ALCAM ENST00000465413 human ensembl 69_37n +1 novel missense c.196 p.H66Y 0.998 pfam_CD80_C2-set,pfscan_Ig-like pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region ALCAM HGNC ENSG00000170017 233 0 0.00 123 19 13.38 - - - ALMS1P 0 genome.wustl.edu 37 2 73900111 73900111 + RNA SNP C C T TCGA-BH-A0BQ-01A-21D-A10Y-09 TCGA-BH-A0BQ-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8bc2c5ac-51b7-4140-9d6d-43ebfe0bde17 27facd2e-781d-4772-bb8c-7a1bc664c53e 2 73900111 73900111 C T SNP ALMS1P ENST00000450720 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors ALMS1P HGNC ENSG00000163016 89 0 0.00 83 14 14.43 - - - ALMS1P 0 genome.wustl.edu 37 2 73900111 73900111 + RNA SNP C C T TCGA-BH-A0BQ-01A-21D-A10Y-09 TCGA-BH-A0BQ-11A-33D-A10Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8bc2c5ac-51b7-4140-9d6d-43ebfe0bde17 828c2886-4775-457c-a276-b7825c65d67a 2 73900111 73900111 C T SNP ALMS1P ENST00000450720 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors ALMS1P HGNC ENSG00000163016 116 0 0.00 83 14 14.43 - - - BMPER 0 genome.wustl.edu 37 7 34125684 34125684 + Silent SNP G G A TCGA-BH-A0BQ-01A-21D-A10Y-09 TCGA-BH-A0BQ-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8bc2c5ac-51b7-4140-9d6d-43ebfe0bde17 27facd2e-781d-4772-bb8c-7a1bc664c53e 7 34125684 34125684 G A SNP BMPER ENST00000297161 human ensembl 69_37n +1 known silent c.1725 p.V575 0.997 pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich pfam_VWF_type-D,pfam_VWF_C,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_C,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,pfscan_VWF_C - no_errors BMPER HGNC ENSG00000164619 115 0 0.00 103 35 25.18 - - - CR2 0 genome.wustl.edu 37 1 207644142 207644142 + Missense_Mutation SNP G G C TCGA-BH-A0BQ-01A-21D-A10Y-09 TCGA-BH-A0BQ-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8bc2c5ac-51b7-4140-9d6d-43ebfe0bde17 27facd2e-781d-4772-bb8c-7a1bc664c53e 1 207644142 207644142 G C SNP CR2 ENST00000367057 human ensembl 69_37n +1 known missense c.1283 p.R428P 0.142 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CR2 HGNC ENSG00000117322 182 0 0.00 205 24 10.43 - - - CR2 0 genome.wustl.edu 37 1 207644142 207644142 + Missense_Mutation SNP G G C TCGA-BH-A0BQ-01A-21D-A10Y-09 TCGA-BH-A0BQ-11A-33D-A10Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8bc2c5ac-51b7-4140-9d6d-43ebfe0bde17 828c2886-4775-457c-a276-b7825c65d67a 1 207644142 207644142 G C SNP CR2 ENST00000367057 human ensembl 69_37n +1 known missense c.1283 p.R428P 0.142 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CR2 HGNC ENSG00000117322 282 0 0.00 205 24 10.43 - - - DNAH1 0 genome.wustl.edu 37 3 52402833 52402833 + Missense_Mutation SNP G G A TCGA-BH-A0BQ-01A-21D-A10Y-09 TCGA-BH-A0BQ-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8bc2c5ac-51b7-4140-9d6d-43ebfe0bde17 27facd2e-781d-4772-bb8c-7a1bc664c53e 3 52402833 52402833 G A SNP DNAH1 ENST00000420323 human ensembl 69_37n +1 known missense c.5842 p.D1948N 1.000 pfam_ATPase_dyneun-rel_AAA pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA - no_errors DNAH1 HGNC ENSG00000114841 79 0 0.00 65 19 22.62 - - - DNAH1 0 genome.wustl.edu 37 3 52402833 52402833 + Missense_Mutation SNP G G A TCGA-BH-A0BQ-01A-21D-A10Y-09 TCGA-BH-A0BQ-11A-33D-A10Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8bc2c5ac-51b7-4140-9d6d-43ebfe0bde17 828c2886-4775-457c-a276-b7825c65d67a 3 52402833 52402833 G A SNP DNAH1 ENST00000420323 human ensembl 69_37n +1 known missense c.5842 p.D1948N 1.000 pfam_ATPase_dyneun-rel_AAA pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA - no_errors DNAH1 HGNC ENSG00000114841 154 0 0.00 65 19 22.62 - - - DSCAML1 0 genome.wustl.edu 37 11 117351189 117351189 + Silent SNP C C T TCGA-BH-A0BQ-01A-21D-A10Y-09 TCGA-BH-A0BQ-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8bc2c5ac-51b7-4140-9d6d-43ebfe0bde17 27facd2e-781d-4772-bb8c-7a1bc664c53e 11 117351189 117351189 C T SNP DSCAML1 ENST00000321322 human ensembl 69_37n -1 known silent c.2934 p.T978 0.738 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors DSCAML1 HGNC ENSG00000177103 89 0 0.00 80 19 19.19 - - - DSCAML1 0 genome.wustl.edu 37 11 117351189 117351189 + Silent SNP C C T TCGA-BH-A0BQ-01A-21D-A10Y-09 TCGA-BH-A0BQ-11A-33D-A10Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8bc2c5ac-51b7-4140-9d6d-43ebfe0bde17 828c2886-4775-457c-a276-b7825c65d67a 11 117351189 117351189 C T SNP DSCAML1 ENST00000321322 human ensembl 69_37n -1 known silent c.2934 p.T978 0.738 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors DSCAML1 HGNC ENSG00000177103 134 0 0.00 80 19 19.19 - - - DSG3 0 genome.wustl.edu 37 18 29041208 29041208 + Nonsense_Mutation SNP G G T TCGA-BH-A0BQ-01A-21D-A10Y-09 TCGA-BH-A0BQ-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8bc2c5ac-51b7-4140-9d6d-43ebfe0bde17 27facd2e-781d-4772-bb8c-7a1bc664c53e 18 29041208 29041208 G T SNP DSG3 ENST00000257189 human ensembl 69_37n +1 known nonsense c.832 p.E278* 0.950 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmo_cadherin - no_errors DSG3 HGNC ENSG00000134757 137 0 0.00 74 15 16.85 - - - DSG3 0 genome.wustl.edu 37 18 29041208 29041208 + Nonsense_Mutation SNP G G T TCGA-BH-A0BQ-01A-21D-A10Y-09 TCGA-BH-A0BQ-11A-33D-A10Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8bc2c5ac-51b7-4140-9d6d-43ebfe0bde17 828c2886-4775-457c-a276-b7825c65d67a 18 29041208 29041208 G T SNP DSG3 ENST00000257189 human ensembl 69_37n +1 known nonsense c.832 p.E278* 0.950 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmo_cadherin - no_errors DSG3 HGNC ENSG00000134757 174 0 0.00 74 15 16.85 - - - FBN3 0 genome.wustl.edu 37 19 8201277 8201277 + Missense_Mutation SNP C C T TCGA-BH-A0BQ-01A-21D-A10Y-09 TCGA-BH-A0BQ-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8bc2c5ac-51b7-4140-9d6d-43ebfe0bde17 27facd2e-781d-4772-bb8c-7a1bc664c53e 19 8201277 8201277 C T SNP FBN3 ENST00000270509 human ensembl 69_37n -1 known missense c.1340 p.C447Y 1.000 smart_EGF-like_Ca-bd,smart_EGF-like,pirsf_Fibrillin pfam_EGF-like_Ca-bd,pfam_TB_dom,pfam_EGF-like_dom,superfamily_TB_dom,smart_EGF-like,smart_EGF-like_Ca-bd,pirsf_Fibrillin,pfscan_EG-like_dom - no_errors FBN3 HGNC ENSG00000142449 43 0 0.00 46 7 13.21 - - - GRIN2B 0 genome.wustl.edu 37 12 13716941 13716941 + Silent SNP G G A TCGA-BH-A0BQ-01A-21D-A10Y-09 TCGA-BH-A0BQ-11A-33D-A10Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8bc2c5ac-51b7-4140-9d6d-43ebfe0bde17 828c2886-4775-457c-a276-b7825c65d67a 12 13716941 13716941 G A SNP GRIN2B ENST00000279593 human ensembl 69_37n -1 known silent c.3231 p.A1077 0.015 pfam_NMDAR2_C pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2B HGNC ENSG00000150086 147 0 0.00 101 29 22.31 - - - HSPBP1 0 genome.wustl.edu 37 19 55790902 55790902 + Silent SNP C C G TCGA-BH-A0BQ-01A-21D-A10Y-09 TCGA-BH-A0BQ-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8bc2c5ac-51b7-4140-9d6d-43ebfe0bde17 27facd2e-781d-4772-bb8c-7a1bc664c53e 19 55790902 55790902 C G SNP HSPBP1 ENST00000255631 human ensembl 69_37n -1 known silent c.75 p.G25 0.327 NULL superfamily_ARM-type_fold - no_errors HSPBP1 HGNC ENSG00000133265 10 0 0.00 5 4 44.44 - - - IFT172 0 genome.wustl.edu 37 2 27667302 27667302 + Missense_Mutation SNP C C A TCGA-BH-A0BQ-01A-21D-A10Y-09 TCGA-BH-A0BQ-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8bc2c5ac-51b7-4140-9d6d-43ebfe0bde17 27facd2e-781d-4772-bb8c-7a1bc664c53e 2 27667302 27667302 C A SNP IFT172 ENST00000260570 human ensembl 69_37n -1 known missense c.5247 p.Q1749H 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat - no_errors IFT172 HGNC ENSG00000138002 70 0 0.00 49 9 15.52 - - - IFT172 0 genome.wustl.edu 37 2 27667302 27667302 + Missense_Mutation SNP C C A TCGA-BH-A0BQ-01A-21D-A10Y-09 TCGA-BH-A0BQ-11A-33D-A10Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8bc2c5ac-51b7-4140-9d6d-43ebfe0bde17 828c2886-4775-457c-a276-b7825c65d67a 2 27667302 27667302 C A SNP IFT172 ENST00000260570 human ensembl 69_37n -1 known missense c.5247 p.Q1749H 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat - no_errors IFT172 HGNC ENSG00000138002 99 1 0.99 49 9 15.52 - - - NTNG1 0 genome.wustl.edu 37 1 107691296 107691296 + Missense_Mutation SNP G G T TCGA-BH-A0BQ-01A-21D-A10Y-09 TCGA-BH-A0BQ-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8bc2c5ac-51b7-4140-9d6d-43ebfe0bde17 27facd2e-781d-4772-bb8c-7a1bc664c53e 1 107691296 107691296 G T SNP NTNG1 ENST00000370068 human ensembl 69_37n +1 known missense c.81 p.W27C 1.000 NULL pfam_Laminin_N,pfam_EGF_laminin,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors NTNG1 HGNC ENSG00000162631 279 0 0.00 254 58 18.59 - - - NTNG1 0 genome.wustl.edu 37 1 107691296 107691296 + Missense_Mutation SNP G G T TCGA-BH-A0BQ-01A-21D-A10Y-09 TCGA-BH-A0BQ-11A-33D-A10Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8bc2c5ac-51b7-4140-9d6d-43ebfe0bde17 828c2886-4775-457c-a276-b7825c65d67a 1 107691296 107691296 G T SNP NTNG1 ENST00000370068 human ensembl 69_37n +1 known missense c.81 p.W27C 1.000 NULL pfam_Laminin_N,pfam_EGF_laminin,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors NTNG1 HGNC ENSG00000162631 486 0 0.00 254 58 18.59 - - - PKNOX2 0 genome.wustl.edu 37 11 125237868 125237868 + Nonsense_Mutation SNP C C T TCGA-BH-A0BQ-01A-21D-A10Y-09 TCGA-BH-A0BQ-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8bc2c5ac-51b7-4140-9d6d-43ebfe0bde17 27facd2e-781d-4772-bb8c-7a1bc664c53e 11 125237868 125237868 C T SNP PKNOX2 ENST00000298282 human ensembl 69_37n +1 known nonsense c.214 p.R72* 1.000 NULL pfam_Homeodomain,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors PKNOX2 HGNC ENSG00000165495 78 0 0.00 62 21 25.30 - - - PKNOX2 0 genome.wustl.edu 37 11 125237868 125237868 + Nonsense_Mutation SNP C C T TCGA-BH-A0BQ-01A-21D-A10Y-09 TCGA-BH-A0BQ-11A-33D-A10Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8bc2c5ac-51b7-4140-9d6d-43ebfe0bde17 828c2886-4775-457c-a276-b7825c65d67a 11 125237868 125237868 C T SNP PKNOX2 ENST00000298282 human ensembl 69_37n +1 known nonsense c.214 p.R72* 1.000 NULL pfam_Homeodomain,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors PKNOX2 HGNC ENSG00000165495 99 0 0.00 62 21 25.30 - - - POM121 0 genome.wustl.edu 37 7 72413723 72413724 + In_Frame_Ins INS - - CTC TCGA-BH-A0BQ-01A-21D-A10Y-09 TCGA-BH-A0BQ-10A-01D-A110-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8bc2c5ac-51b7-4140-9d6d-43ebfe0bde17 27facd2e-781d-4772-bb8c-7a1bc664c53e 7 72413723 72413724 - CTC INS POM121 ENST00000434423 human ensembl 69_37n +1 known in_frame_ins c.3191_3192 p.1065in_frame_insS 0.980:0.870 NULL NULL - no_errors POM121 HGNC ENSG00000196313 32 0 0.00 42 6 12.50 - - - SLC27A5 0 genome.wustl.edu 37 19 59010502 59010502 + Missense_Mutation SNP C C T TCGA-BH-A0BQ-01A-21D-A10Y-09 TCGA-BH-A0BQ-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8bc2c5ac-51b7-4140-9d6d-43ebfe0bde17 27facd2e-781d-4772-bb8c-7a1bc664c53e 19 59010502 59010502 C T SNP SLC27A5 ENST00000263093 human ensembl 69_37n -1 known missense c.1753 p.V585M 0.988 NULL pfam_AMP-dep_Synth/Lig - no_errors SLC27A5 HGNC ENSG00000083807 57 0 0.00 35 11 23.91 - - - SLC45A1 0 genome.wustl.edu 37 1 8390663 8390663 + Silent SNP G G A TCGA-BH-A0BQ-01A-21D-A10Y-09 TCGA-BH-A0BQ-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8bc2c5ac-51b7-4140-9d6d-43ebfe0bde17 27facd2e-781d-4772-bb8c-7a1bc664c53e 1 8390663 8390663 G A SNP SLC45A1 ENST00000377479 human ensembl 69_37n +1 known silent c.1212 p.T404 0.941 NULL pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC45A1 HGNC ENSG00000162426 28 0 0.00 45 7 13.46 - - - SLC45A1 0 genome.wustl.edu 37 1 8390663 8390663 + Silent SNP G G A TCGA-BH-A0BQ-01A-21D-A10Y-09 TCGA-BH-A0BQ-11A-33D-A10Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8bc2c5ac-51b7-4140-9d6d-43ebfe0bde17 828c2886-4775-457c-a276-b7825c65d67a 1 8390663 8390663 G A SNP SLC45A1 ENST00000377479 human ensembl 69_37n +1 known silent c.1212 p.T404 0.941 NULL pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC45A1 HGNC ENSG00000162426 58 0 0.00 45 7 13.46 - - - SUSD4 0 genome.wustl.edu 37 1 223400952 223400952 + Missense_Mutation SNP C C T TCGA-BH-A0BQ-01A-21D-A10Y-09 TCGA-BH-A0BQ-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8bc2c5ac-51b7-4140-9d6d-43ebfe0bde17 27facd2e-781d-4772-bb8c-7a1bc664c53e 1 223400952 223400952 C T SNP SUSD4 ENST00000343846 human ensembl 69_37n -1 known missense c.1045 p.A349T 1.000 NULL pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors SUSD4 HGNC ENSG00000143502 93 0 0.00 120 16 11.51 - - - TCTN1 0 genome.wustl.edu 37 12 111064227 111064227 + Missense_Mutation SNP C C A TCGA-BH-A0BQ-01A-21D-A10Y-09 TCGA-BH-A0BQ-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8bc2c5ac-51b7-4140-9d6d-43ebfe0bde17 27facd2e-781d-4772-bb8c-7a1bc664c53e 12 111064227 111064227 C A SNP TCTN1 ENST00000397659 human ensembl 69_37n +1 known missense c.402 p.N134K 0.967 pfam_DUF1619 pfam_DUF1619 - no_errors TCTN1 HGNC ENSG00000204852 230 0 0.00 94 16 14.55 - - - TCTN1 0 genome.wustl.edu 37 12 111064227 111064227 + Missense_Mutation SNP C C A TCGA-BH-A0BQ-01A-21D-A10Y-09 TCGA-BH-A0BQ-11A-33D-A10Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8bc2c5ac-51b7-4140-9d6d-43ebfe0bde17 828c2886-4775-457c-a276-b7825c65d67a 12 111064227 111064227 C A SNP TCTN1 ENST00000397659 human ensembl 69_37n +1 known missense c.402 p.N134K 0.967 pfam_DUF1619 pfam_DUF1619 - no_errors TCTN1 HGNC ENSG00000204852 251 0 0.00 94 16 14.55 - - - VPS13D 0 genome.wustl.edu 37 1 12405462 12405462 + Nonsense_Mutation SNP C C A TCGA-BH-A0BQ-01A-21D-A10Y-09 TCGA-BH-A0BQ-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8bc2c5ac-51b7-4140-9d6d-43ebfe0bde17 27facd2e-781d-4772-bb8c-7a1bc664c53e 1 12405462 12405462 C A SNP VPS13D ENST00000011700 human ensembl 69_37n +1 novel nonsense c.5382 p.C1794* 1.000 NULL pfam_VPSAP,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region VPS13D HGNC ENSG00000048707 224 0 0.00 192 46 19.33 - - - VPS13D 0 genome.wustl.edu 37 1 12405462 12405462 + Nonsense_Mutation SNP C C A TCGA-BH-A0BQ-01A-21D-A10Y-09 TCGA-BH-A0BQ-11A-33D-A10Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8bc2c5ac-51b7-4140-9d6d-43ebfe0bde17 828c2886-4775-457c-a276-b7825c65d67a 1 12405462 12405462 C A SNP VPS13D ENST00000011700 human ensembl 69_37n +1 novel nonsense c.5382 p.C1794* 1.000 NULL pfam_VPSAP,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region VPS13D HGNC ENSG00000048707 398 1 0.25 192 46 19.33 - - - VPS4B 0 genome.wustl.edu 37 18 61067316 61067316 + Missense_Mutation SNP C C T TCGA-BH-A0BQ-01A-21D-A10Y-09 TCGA-BH-A0BQ-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8bc2c5ac-51b7-4140-9d6d-43ebfe0bde17 27facd2e-781d-4772-bb8c-7a1bc664c53e 18 61067316 61067316 C T SNP VPS4B ENST00000238497 human ensembl 69_37n -1 known missense c.755 p.R252H 0.980 pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_AAA+_ATPase pfam_ATPase_AAA_core,pfam_Vps4_C,pfam_MIT,pfam_IstB_ATP-bd,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_MIT,smart_AAA+_ATPase - no_errors VPS4B HGNC ENSG00000119541 139 0 0.00 67 14 17.28 - - - VPS4B 0 genome.wustl.edu 37 18 61067316 61067316 + Missense_Mutation SNP C C T TCGA-BH-A0BQ-01A-21D-A10Y-09 TCGA-BH-A0BQ-11A-33D-A10Y-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8bc2c5ac-51b7-4140-9d6d-43ebfe0bde17 828c2886-4775-457c-a276-b7825c65d67a 18 61067316 61067316 C T SNP VPS4B ENST00000238497 human ensembl 69_37n -1 known missense c.755 p.R252H 0.980 pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_AAA+_ATPase pfam_ATPase_AAA_core,pfam_Vps4_C,pfam_MIT,pfam_IstB_ATP-bd,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_MIT,smart_AAA+_ATPase - no_errors VPS4B HGNC ENSG00000119541 172 1 0.58 67 14 17.28 - - - WDPCP 0 genome.wustl.edu 37 2 63714608 63714608 + Nonsense_Mutation SNP G G A TCGA-BH-A0BQ-01A-21D-A10Y-09 TCGA-BH-A0BQ-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8bc2c5ac-51b7-4140-9d6d-43ebfe0bde17 27facd2e-781d-4772-bb8c-7a1bc664c53e 2 63714608 63714608 G A SNP WDPCP ENST00000272321 human ensembl 69_37n -1 known nonsense c.181 p.Q61* 1.000 NULL pfam_DUF3312,superfamily_WD40_repeat_dom - no_errors WDPCP HGNC ENSG00000143951 91 0 0.00 38 10 20.83 - - - WDPCP 0 genome.wustl.edu 37 2 63714608 63714608 + Nonsense_Mutation SNP G G A TCGA-BH-A0BQ-01A-21D-A10Y-09 TCGA-BH-A0BQ-11A-33D-A10Y-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8bc2c5ac-51b7-4140-9d6d-43ebfe0bde17 828c2886-4775-457c-a276-b7825c65d67a 2 63714608 63714608 G A SNP WDPCP ENST00000272321 human ensembl 69_37n -1 known nonsense c.181 p.Q61* 1.000 NULL pfam_DUF3312,superfamily_WD40_repeat_dom - no_errors WDPCP HGNC ENSG00000143951 100 0 0.00 38 10 20.83 - - - ZFHX3 0 genome.wustl.edu 37 16 72923665 72923665 + Missense_Mutation SNP A A T TCGA-BH-A0BQ-01A-21D-A10Y-09 TCGA-BH-A0BQ-11A-33D-A10Y-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8bc2c5ac-51b7-4140-9d6d-43ebfe0bde17 828c2886-4775-457c-a276-b7825c65d67a 16 72923665 72923665 A T SNP ZFHX3 ENST00000268489 human ensembl 69_37n -1 known missense c.3413 p.I1138N 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ZFHX3 HGNC ENSG00000140836 93 0 0.00 44 11 20.00 - - - ZMYND8 0 genome.wustl.edu 37 20 45867613 45867613 + Missense_Mutation SNP A A C TCGA-BH-A0BQ-01A-21D-A10Y-09 TCGA-BH-A0BQ-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8bc2c5ac-51b7-4140-9d6d-43ebfe0bde17 27facd2e-781d-4772-bb8c-7a1bc664c53e 20 45867613 45867613 A C SNP ZMYND8 ENST00000536340 human ensembl 69_37n -1 known missense c.2575 p.W859G 1.000 NULL pfam_DUF3544,pfam_Bromodomain,pfam_PWWP,pfam_Znf_PHD-finger,pfam_Znf_MYND,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP,pfscan_PWWP,pfscan_Znf_MYND,pfscan_Znf_PHD-finger,pfscan_Bromodomain - no_errors ZMYND8 HGNC ENSG00000101040 19 0 0.00 15 5 25.00 - - -