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 ensembl_gene_id tier dbSNP GMAF n_ref_count n_alt_count normal_vaf t_ref_count t_alt_count tumor_vaf n_ref_count_val n_alt_count_val normal_vaf_val t_ref_count_val t_alt_count_val tumor_vaf_val TP53 0 genome.wustl.edu 37 17 7578235 7578235 + Missense_Mutation SNP T T C TCGA-IW-A3M5-01A-22D-A21Q-09 TCGA-IW-A3M5-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 03ced0ce-186a-4349-8d98-572c2bc90382 e5aba172-82cb-406e-9841-d2568d14b2fc 17 7578235 7578235 T C SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.614 p.Y205C 0.989 pfam_p53_D-bd,superfamily_p53-like_TF_D-bd pfam_p53_D-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_D-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 - - 58 0 0.00 12 38 76.00 ZNF568 0 genome.wustl.edu 37 19 37488408 37488408 + Silent SNP A A G TCGA-IW-A3M5-01A-22D-A21Q-09 TCGA-IW-A3M5-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 03ced0ce-186a-4349-8d98-572c2bc90382 e5aba172-82cb-406e-9841-d2568d14b2fc 19 37488408 37488408 A G SNP ZNF568 ENST00000455427 human ensembl 74_37 +1 known silent c.1623 p.E541 0.002 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF568 HGNC ENSG00000198453 tier1 - - 73 0 0.00 125 11 8.09 KCNC2 0 genome.wustl.edu 37 12 75444697 75444697 + Missense_Mutation SNP C C T TCGA-IW-A3M5-01A-22D-A21Q-09 TCGA-IW-A3M5-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 03ced0ce-186a-4349-8d98-572c2bc90382 e5aba172-82cb-406e-9841-d2568d14b2fc 12 75444697 75444697 C T SNP KCNC2 ENST00000549446 human ensembl 74_37 -1 known missense c.1088 p.R363H 1.000 pfam_Ion_trans_dom,prints_K_chnl,prints_K_chnl_volt-dep_Kv pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv - no_errors KCNC2 HGNC ENSG00000166006 tier1 - - 17 0 0.00 8 6 42.86 PIK3CA 0 genome.wustl.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A G TCGA-IW-A3M5-01A-22D-A21Q-09 TCGA-IW-A3M5-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 03ced0ce-186a-4349-8d98-572c2bc90382 e5aba172-82cb-406e-9841-d2568d14b2fc 3 178952085 178952085 A G SNP PIK3CA ENST00000263967 human ensembl 74_37 +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_dom,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 tier1 rs121913279 - 19 0 0.00 1 41 97.62 NKAPL 0 genome.wustl.edu 37 6 28227274 28227274 + Missense_Mutation SNP G G A TCGA-IW-A3M5-01A-22D-A21Q-09 TCGA-IW-A3M5-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 03ced0ce-186a-4349-8d98-572c2bc90382 e5aba172-82cb-406e-9841-d2568d14b2fc 6 28227274 28227274 G A SNP NKAPL ENST00000343684 human ensembl 74_37 +1 known missense c.125 p.R42H 0.000 NULL pfam_DUF926 - no_errors NKAPL HGNC ENSG00000189134 tier1 - - 28 0 0.00 26 31 54.39 TMEM44 0 genome.wustl.edu 37 3 194317814 194317815 + R INS - - GCGTGCACACACCCACATGCACAC TCGA-IW-A3M5-01A-22D-A21Q-09 TCGA-IW-A3M5-10A-01D-A21Q-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 03ced0ce-186a-4349-8d98-572c2bc90382 e5aba172-82cb-406e-9841-d2568d14b2fc 3 194317814 194317815 - GCGTGCACACACCCACATGCACAC INS TMEM44 ENST00000467284 human ensembl 74_37 -1 putative rna NULL NULL 0.000:0.000 - - - no_errors TMEM44 HGNC ENSG00000145014 tier1 CYFIP2 0 genome.wustl.edu 37 5 156810368 156810368 + Splice_Site SNP G G A TCGA-IW-A3M5-01A-22D-A21Q-09 TCGA-IW-A3M5-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 03ced0ce-186a-4349-8d98-572c2bc90382 e5aba172-82cb-406e-9841-d2568d14b2fc 5 156810368 156810368 G A SNP CYFIP2 ENST00000318218 human ensembl 74_37 +1 known splice_site c.3282+1 e29+1 1.000 - - - no_errors CYFIP2 HGNC ENSG00000055163 tier1 - - 36 0 0.00 29 10 25.64 ZFHX4 0 genome.wustl.edu 37 8 77766738 77766738 + Silent SNP G G A TCGA-IW-A3M5-01A-22D-A21Q-09 TCGA-IW-A3M5-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 03ced0ce-186a-4349-8d98-572c2bc90382 e5aba172-82cb-406e-9841-d2568d14b2fc 8 77766738 77766738 G A SNP ZFHX4 ENST00000521891 human ensembl 74_37 +1 known silent c.7581 p.P2527 0.850 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 tier1 - - 17 0 0.00 15 15 50.00 MUC4 0 genome.wustl.edu 37 3 195509535 195509535 + Silent SNP A A T TCGA-IW-A3M5-01A-22D-A21Q-09 TCGA-IW-A3M5-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 03ced0ce-186a-4349-8d98-572c2bc90382 e5aba172-82cb-406e-9841-d2568d14b2fc 3 195509535 195509535 A T SNP MUC4 ENST00000463781 human ensembl 74_37 -1 known silent c.8916 p.G2972 0.001 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 tier1 - - 114 0 0.00 80 16 16.33 MUC4 0 genome.wustl.edu 37 3 195509553 195509553 + Silent SNP A A G TCGA-IW-A3M5-01A-22D-A21Q-09 TCGA-IW-A3M5-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 03ced0ce-186a-4349-8d98-572c2bc90382 e5aba172-82cb-406e-9841-d2568d14b2fc 3 195509553 195509553 A G SNP MUC4 ENST00000463781 human ensembl 74_37 -1 known silent c.8898 p.T2966 0.705 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 tier1 - - 112 1 0.88 90 12 11.76 LINC00905 0 genome.wustl.edu 37 19 16145448 16145448 + R SNP G G A TCGA-IW-A3M5-01A-22D-A21Q-09 TCGA-IW-A3M5-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 03ced0ce-186a-4349-8d98-572c2bc90382 e5aba172-82cb-406e-9841-d2568d14b2fc 19 16145448 16145448 G A SNP LINC00905 ENST00000588117 human ensembl 74_37 +1 known rna NULL NULL 0.080 - - - no_errors LINC00905 HGNC ENSG00000167459 tier1 - - 23 0 0.00 32 5 13.51 AXIN2 0 genome.wustl.edu 37 17 63533137 63533137 + Missense_Mutation SNP G G C TCGA-IW-A3M5-01A-22D-A21Q-09 TCGA-IW-A3M5-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 03ced0ce-186a-4349-8d98-572c2bc90382 e5aba172-82cb-406e-9841-d2568d14b2fc 17 63533137 63533137 G C SNP AXIN2 ENST00000307078 human ensembl 74_37 -1 known missense c.1757 p.T586R 0.043 NULL pfam_DIX,pfam_RGS_dom,pfam_Axin_b-cat-bd,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_DIX,pfscan_DIX,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors AXIN2 HGNC ENSG00000168646 tier1 - - 8 0 0.00 11 9 45.00 MT-CO1 0 genome.wustl.edu 37 MT 6874 6874 + Missense_Mutation SNP T T C TCGA-IW-A3M5-01A-22D-A21Q-09 TCGA-IW-A3M5-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 03ced0ce-186a-4349-8d98-572c2bc90382 e5aba172-82cb-406e-9841-d2568d14b2fc MT 6874 6874 T C SNP MT-CO1 ENST00000361624 human ensembl 74_37 +1 known missense c.971 p.L324P NULL pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1 pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1 - no_errors MT-CO1 HGNC ENSG00000198804 tier1 - - 44 0 0.00 1 21 95.45 FAM27E2 0 genome.wustl.edu 37 9 45733681 45733681 + Missense_Mutation SNP T T A TCGA-IW-A3M5-01A-22D-A21Q-09 TCGA-IW-A3M5-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 03ced0ce-186a-4349-8d98-572c2bc90382 e5aba172-82cb-406e-9841-d2568d14b2fc 9 45733681 45733681 T A SNP FAM27E2 ENST00000377529 human ensembl 74_37 +1 known missense c.94 p.L32M 0.038 NULL NULL - no_errors FAM27E2 HGNC ENSG00000204807 tier1 rs146523101 - 55 0 0.00 10 6 37.50 CPT2 0 genome.wustl.edu 37 1 53666452 53666452 + Silent SNP T T C TCGA-IW-A3M5-01A-22D-A21Q-09 TCGA-IW-A3M5-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 03ced0ce-186a-4349-8d98-572c2bc90382 e5aba172-82cb-406e-9841-d2568d14b2fc 1 53666452 53666452 T C SNP CPT2 ENST00000371486 human ensembl 74_37 +1 known silent c.214 p.L72 0.983 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CPT2 HGNC ENSG00000157184 tier1 - - 114 0 0.00 47 96 67.13 SHPRH 0 genome.wustl.edu 37 6 146268768 146268768 + Missense_Mutation SNP T T C TCGA-IW-A3M5-01A-22D-A21Q-09 TCGA-IW-A3M5-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 03ced0ce-186a-4349-8d98-572c2bc90382 e5aba172-82cb-406e-9841-d2568d14b2fc 6 146268768 146268768 T C SNP SHPRH ENST00000367503 human ensembl 74_37 -1 known missense c.1073 p.E358G 1.000 pfam_SNF2_N,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_Helicase_ATP-bd pfam_SNF2_N,pfam_Histone_H1/H5_H15,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,superfamily_WW_dom,smart_Helicase_ATP-bd,smart_Histone_H1/H5_H15,smart_Znf_PHD,smart_Znf_RING,smart_Helicase_C,pfscan_Znf_RING,pfscan_Helicase_C - no_errors SHPRH HGNC ENSG00000146414 tier1 - - 20 0 0.00 22 21 48.84 GGT7 0 genome.wustl.edu 37 20 33432915 33432916 + R INS - - CACCAC TCGA-IW-A3M5-01A-22D-A21Q-09 TCGA-IW-A3M5-10A-01D-A21Q-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 03ced0ce-186a-4349-8d98-572c2bc90382 e5aba172-82cb-406e-9841-d2568d14b2fc 20 33432915 33432916 - CACCAC INS GGT7 ENST00000469018 human ensembl 74_37 -1 known rna NULL NULL 0.062:0.008 - - - no_errors GGT7 HGNC ENSG00000131067 tier1 RN7SKP189 0 genome.wustl.edu 37 X 144138832 144138832 + R SNP C C T TCGA-IW-A3M5-01A-22D-A21Q-09 TCGA-IW-A3M5-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 03ced0ce-186a-4349-8d98-572c2bc90382 e5aba172-82cb-406e-9841-d2568d14b2fc X 144138832 144138832 C T SNP RN7SKP189 ENST00000365042 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors RN7SKP189 HGNC ENSG00000201912 tier1 - - 8 0 0.00 3 6 66.67 RAD54L2 0 genome.wustl.edu 37 3 51667774 51667774 + Missense_Mutation SNP C C T TCGA-IW-A3M5-01A-22D-A21Q-09 TCGA-IW-A3M5-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 03ced0ce-186a-4349-8d98-572c2bc90382 e5aba172-82cb-406e-9841-d2568d14b2fc 3 51667774 51667774 C T SNP RAD54L2 ENST00000409535 human ensembl 74_37 +1 known missense c.1007 p.P336L 1.000 pfam_SNF2_N,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors RAD54L2 HGNC ENSG00000164080 tier1 - - 48 0 0.00 4 23 85.19 INTS4 0 genome.wustl.edu 37 11 77629981 77629981 + Missense_Mutation SNP A A T TCGA-IW-A3M5-01A-22D-A21Q-09 TCGA-IW-A3M5-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 03ced0ce-186a-4349-8d98-572c2bc90382 e5aba172-82cb-406e-9841-d2568d14b2fc 11 77629981 77629981 A T SNP INTS4 ENST00000534064 human ensembl 74_37 -1 known missense c.1808 p.I603N 0.065 NULL pfam_HEAT,superfamily_ARM-type_fold - no_errors INTS4 HGNC ENSG00000149262 tier1 - - 106 0 0.00 69 17 19.77 CHD2 0 genome.wustl.edu 37 15 93482893 93482893 + Missense_Mutation SNP G G C TCGA-IW-A3M5-01A-22D-A21Q-09 TCGA-IW-A3M5-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 03ced0ce-186a-4349-8d98-572c2bc90382 e5aba172-82cb-406e-9841-d2568d14b2fc 15 93482893 93482893 G C SNP CHD2 ENST00000420239 human ensembl 74_37 +1 known missense c.637 p.D213H 1.000 NULL pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow - no_errors CHD2 HGNC ENSG00000173575 tier1 - - 82 0 0.00 25 76 75.25 ZNF777 0 genome.wustl.edu 37 7 149153007 149153007 + Missense_Mutation SNP C C A TCGA-IW-A3M5-01A-22D-A21Q-09 TCGA-IW-A3M5-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 03ced0ce-186a-4349-8d98-572c2bc90382 e5aba172-82cb-406e-9841-d2568d14b2fc 7 149153007 149153007 C A SNP ZNF777 ENST00000247930 human ensembl 74_37 -1 known missense c.107 p.R36L 0.015 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_DUF3669_Znf,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF777 HGNC ENSG00000196453 tier1 - - 15 0 0.00 1 7 87.50 MADCAM1 0 genome.wustl.edu 37 19 501786 501786 + Missense_Mutation SNP C C A TCGA-IW-A3M5-01A-22D-A21Q-09 TCGA-IW-A3M5-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 03ced0ce-186a-4349-8d98-572c2bc90382 e5aba172-82cb-406e-9841-d2568d14b2fc 19 501786 501786 C A SNP MADCAM1 ENST00000215637 human ensembl 74_37 +1 known missense c.785 p.P262Q 0.000 NULL pfam_Adhes-Ig-like,smart_Ig_sub,pfscan_Ig-like_dom - no_errors MADCAM1 HGNC ENSG00000099866 tier1 rs77264553 - 16 0 0.00 19 5 20.83 LAMA5 0 genome.wustl.edu 37 20 60888027 60888027 + Missense_Mutation SNP C C T TCGA-IW-A3M5-01A-22D-A21Q-09 TCGA-IW-A3M5-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 03ced0ce-186a-4349-8d98-572c2bc90382 e5aba172-82cb-406e-9841-d2568d14b2fc 20 60888027 60888027 C T SNP LAMA5 ENST00000252999 human ensembl 74_37 -1 known missense c.8995 p.V2999M 0.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,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,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors LAMA5 HGNC ENSG00000130702 tier1 - - 47 0 0.00 35 31 46.97 EXOC3 0 genome.wustl.edu 37 5 443336 443374 + R DEL GGCGGCGGGGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC GGCGGCGGGGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC - TCGA-IW-A3M5-01A-22D-A21Q-09 TCGA-IW-A3M5-10A-01D-A21Q-09 GGCGGCGGGGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC GGCGGCGGGGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 03ced0ce-186a-4349-8d98-572c2bc90382 e5aba172-82cb-406e-9841-d2568d14b2fc 5 443336 443374 GGCGGCGGGGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC - DEL EXOC3 ENST00000510441 human ensembl 74_37 +1 putative rna NULL NULL 0.044:0.469:0.513:0.560:0.594:0.546:0.469:0.344:0.297:0.251:0.205:0.159:0.113:0.068:0.023:0.018:0.018:0.007:0.000:0.000:0.000:0.083:0.171:0.290:0.294:0.302:0.252:0.182:0.138:0.004:0.005:0.010:0.011:0.023:0.025:0.016:0.013:0.006:0.002 - - - no_errors EXOC3 HGNC ENSG00000180104 tier1 ECT2 0 genome.wustl.edu 37 3 172474880 172474880 + Silent SNP C C T TCGA-IW-A3M5-01A-22D-A21Q-09 TCGA-IW-A3M5-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 03ced0ce-186a-4349-8d98-572c2bc90382 e5aba172-82cb-406e-9841-d2568d14b2fc 3 172474880 172474880 C T SNP ECT2 ENST00000427830 human ensembl 74_37 +1 known silent c.318 p.V106 0.997 NULL pfam_DH-domain,pfam_BRCT_dom,superfamily_DH-domain,superfamily_BRCT_dom,smart_BRCT_dom,smart_DH-domain,pfscan_BRCT_dom,pfscan_DH-domain - no_errors ECT2 HGNC ENSG00000114346 tier1 - - 53 0 0.00 89 31 25.83 CUL7 0 genome.wustl.edu 37 6 43006382 43006385 + Frame_Shift_Del DEL TGTC TGTC - TCGA-IW-A3M5-01A-22D-A21Q-09 TCGA-IW-A3M5-10A-01D-A21Q-09 TGTC TGTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 03ced0ce-186a-4349-8d98-572c2bc90382 e5aba172-82cb-406e-9841-d2568d14b2fc 6 43006382 43006385 TGTC - DEL CUL7 ENST00000535468 human ensembl 74_37 -1 known frame_shift_del c.4741_4738 p.D1580fs 0.000:0.000:0.119:0.159 pfam_Cullin_N,superfamily_Cullin_homology,pfscan_Cullin_homology pfam_Cullin_N,pfam_CPH_domain,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL7 HGNC ENSG00000044090 tier1 10 0 0.00 14 9 39.13 ANKRD12 0 genome.wustl.edu 37 18 9255635 9255635 + Missense_Mutation SNP G G T TCGA-IW-A3M5-01A-22D-A21Q-09 TCGA-IW-A3M5-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 03ced0ce-186a-4349-8d98-572c2bc90382 e5aba172-82cb-406e-9841-d2568d14b2fc 18 9255635 9255635 G T SNP ANKRD12 ENST00000262126 human ensembl 74_37 +1 known missense c.2370 p.M790I 0.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD12 HGNC ENSG00000101745 tier1 - - 13 0 0.00 7 12 63.16 DCLK1 0 genome.wustl.edu 37 13 36445375 36445375 + Missense_Mutation SNP G G T TCGA-IW-A3M5-01A-22D-A21Q-09 TCGA-IW-A3M5-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 03ced0ce-186a-4349-8d98-572c2bc90382 e5aba172-82cb-406e-9841-d2568d14b2fc 13 36445375 36445375 G T SNP DCLK1 ENST00000360631 human ensembl 74_37 -1 known missense c.926 p.A309D 0.998 NULL pfam_Prot_kinase_dom,pfam_Doublecortin_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Doublecortin_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Doublecortin_dom,pfscan_Prot_kinase_dom - no_errors DCLK1 HGNC ENSG00000133083 tier1 - - 54 0 0.00 32 16 33.33 ACTRT1 0 genome.wustl.edu 37 X 127185556 127185556 + Silent SNP G G A TCGA-IW-A3M5-01A-22D-A21Q-09 TCGA-IW-A3M5-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 03ced0ce-186a-4349-8d98-572c2bc90382 e5aba172-82cb-406e-9841-d2568d14b2fc X 127185556 127185556 G A SNP ACTRT1 ENST00000371124 human ensembl 74_37 -1 known silent c.630 p.A210 0.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTRT1 HGNC ENSG00000123165 tier1 - - 71 0 0.00 20 51 71.83 PRTG 0 genome.wustl.edu 37 15 55976085 55976085 + Missense_Mutation SNP C C T TCGA-IW-A3M5-01A-22D-A21Q-09 TCGA-IW-A3M5-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 03ced0ce-186a-4349-8d98-572c2bc90382 e5aba172-82cb-406e-9841-d2568d14b2fc 15 55976085 55976085 C T SNP PRTG ENST00000389286 human ensembl 74_37 -1 known missense c.442 p.E148K 0.996 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors PRTG HGNC ENSG00000166450 tier1 - - 29 0 0.00 23 3 11.54 BAI3 0 genome.wustl.edu 37 6 69348841 69348841 + Missense_Mutation SNP C C G TCGA-IW-A3M5-01A-22D-A21Q-09 TCGA-IW-A3M5-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 03ced0ce-186a-4349-8d98-572c2bc90382 e5aba172-82cb-406e-9841-d2568d14b2fc 6 69348841 69348841 C G SNP BAI3 ENST00000370598 human ensembl 74_37 +1 known missense c.274 p.H92D 1.000 pfscan_CUB_dom pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like - no_errors BAI3 HGNC ENSG00000135298 tier1 - - 38 0 0.00 28 7 20.00 MAP3K9 0 genome.wustl.edu 37 14 71199867 71199867 + Missense_Mutation SNP T T C TCGA-IW-A3M5-01A-22D-A21Q-09 TCGA-IW-A3M5-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 03ced0ce-186a-4349-8d98-572c2bc90382 e5aba172-82cb-406e-9841-d2568d14b2fc 14 71199867 71199867 T C SNP MAP3K9 ENST00000555993 human ensembl 74_37 -1 known missense c.2261 p.K754R 1.000 pirsf_MAPKKK9/10/11 pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_Regulat_G_prot_signal_superfam,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_dom - no_errors MAP3K9 HGNC ENSG00000006432 tier1 - - 20 0 0.00 28 16 36.36 LINC00955 0 genome.wustl.edu 37 4 3589656 3589669 + Frame_Shift_Del DEL ACTCCCAGATGCAG ACTCCCAGATGCAG - TCGA-IW-A3M5-01A-22D-A21Q-09 TCGA-IW-A3M5-10A-01D-A21Q-09 ACTCCCAGATGCAG ACTCCCAGATGCAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 03ced0ce-186a-4349-8d98-572c2bc90382 e5aba172-82cb-406e-9841-d2568d14b2fc 4 3589656 3589669 ACTCCCAGATGCAG - DEL LINC00955 ENST00000514422 human ensembl 74_37 +1 novel frame_shift_del c.24_37 p.D11fs 0.086:0.080:0.080:0.088:0.143:0.156:0.154:0.145:0.135:0.135:0.134:0.130:0.136:0.162 NULL NULL - no_errors LINC00955 HGNC ENSG00000216560 tier1 RGL1 0 genome.wustl.edu 37 1 183881229 183881229 + Missense_Mutation SNP T T C TCGA-IW-A3M5-01A-22D-A21Q-09 TCGA-IW-A3M5-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 03ced0ce-186a-4349-8d98-572c2bc90382 e5aba172-82cb-406e-9841-d2568d14b2fc 1 183881229 183881229 T C SNP RGL1 ENST00000304685 human ensembl 74_37 +1 known missense c.1681 p.S561P 0.853 superfamily_Ras_GEF_dom pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_Ras-assoc,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RGL1 HGNC ENSG00000143344 tier1 - - 46 0 0.00 55 8 12.70 ENSG00000268573 0 genome.wustl.edu 37 18 32862463 32862467 + R DEL TTTAT TTTAT - TCGA-IW-A3M5-01A-22D-A21Q-09 TCGA-IW-A3M5-10A-01D-A21Q-09 TTTAT TTTAT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 03ced0ce-186a-4349-8d98-572c2bc90382 e5aba172-82cb-406e-9841-d2568d14b2fc 18 32862463 32862467 TTTAT - DEL ENSG00000268573 ENST00000586922 human ensembl 74_37 -1 known rna NULL NULL 0.018:0.019:0.019:0.018:0.020 - - - no_errors RP11-158H5.7 Clone_based_vega_gene ENSG00000268573 tier1 LSS 0 genome.wustl.edu 37 21 47635208 47635208 + Silent SNP G G A TCGA-IW-A3M5-01A-22D-A21Q-09 TCGA-IW-A3M5-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 03ced0ce-186a-4349-8d98-572c2bc90382 e5aba172-82cb-406e-9841-d2568d14b2fc 21 47635208 47635208 G A SNP LSS ENST00000356396 human ensembl 74_37 -1 known silent c.897 p.L299 0.370 superfamily_Terpenoid_cyclase/PrenylTrfase,tigrfam_Squalene_cyclase pfam_Prenyltrans,superfamily_Terpenoid_cyclase/PrenylTrfase,tigrfam_Squalene_cyclase - no_errors LSS HGNC ENSG00000160285 tier1 - - 57 0 0.00 14 22 61.11 GCNT2 0 genome.wustl.edu 37 6 10629469 10629469 + R SNP A A T TCGA-IW-A3M5-01A-22D-A21Q-09 TCGA-IW-A3M5-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 03ced0ce-186a-4349-8d98-572c2bc90382 e5aba172-82cb-406e-9841-d2568d14b2fc 6 10629469 10629469 A T SNP GCNT2 ENST00000397423 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors GCNT2 HGNC ENSG00000111846 tier1 - - 47 0 0.00 66 18 21.18 LTBP1 0 genome.wustl.edu 37 2 33589422 33589422 + Silent SNP C C T TCGA-IW-A3M5-01A-22D-A21Q-09 TCGA-IW-A3M5-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 03ced0ce-186a-4349-8d98-572c2bc90382 e5aba172-82cb-406e-9841-d2568d14b2fc 2 33589422 33589422 C T SNP LTBP1 ENST00000354476 human ensembl 74_37 +1 known silent c.4542 p.N1514 0.998 NULL pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors LTBP1 HGNC ENSG00000049323 tier1 - - 44 0 0.00 53 29 35.37 ITPK1 0 genome.wustl.edu 37 14 93483134 93483134 + Missense_Mutation SNP G G A TCGA-IW-A3M5-01A-22D-A21Q-09 TCGA-IW-A3M5-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 03ced0ce-186a-4349-8d98-572c2bc90382 e5aba172-82cb-406e-9841-d2568d14b2fc 14 93483134 93483134 G A SNP ITPK1 ENST00000267615 human ensembl 74_37 -1 known missense c.133 p.R45W 1.000 pfam_Inositol_tetrakis-P_1-kinase pfam_Inositol_tetrakis-P_1-kinase - no_errors ITPK1 HGNC ENSG00000100605 tier1 - - 24 0 0.00 24 20 45.45 FAM95B1 0 genome.wustl.edu 37 9 42472104 42472104 + R SNP C C T TCGA-IW-A3M5-01A-22D-A21Q-09 TCGA-IW-A3M5-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 03ced0ce-186a-4349-8d98-572c2bc90382 e5aba172-82cb-406e-9841-d2568d14b2fc 9 42472104 42472104 C T SNP FAM95B1 ENST00000592873 human ensembl 74_37 +1 known rna NULL NULL 0.012 - - - no_errors FAM95B1 HGNC ENSG00000223839 tier1 - - 146 1 0.68 73 7 8.75 TTC37 0 genome.wustl.edu 37 5 94864706 94864706 + Silent SNP T T C TCGA-IW-A3M5-01A-22D-A21Q-09 TCGA-IW-A3M5-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 03ced0ce-186a-4349-8d98-572c2bc90382 e5aba172-82cb-406e-9841-d2568d14b2fc 5 94864706 94864706 T C SNP TTC37 ENST00000358746 human ensembl 74_37 -1 known silent c.993 p.Q331 1.000 smart_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC37 HGNC ENSG00000198677 tier1 - - 27 0 0.00 10 19 65.52 V2 0 genome.wustl.edu 37 11 20119223 20119224 + Frame_Shift_Del DEL AA AA - TCGA-IW-A3M5-01A-22D-A21Q-09 TCGA-IW-A3M5-10A-01D-A21Q-09 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 03ced0ce-186a-4349-8d98-572c2bc90382 e5aba172-82cb-406e-9841-d2568d14b2fc 11 20119223 20119224 AA - DEL V2 ENST00000396087 human ensembl 74_37 +1 known frame_shift_del c.6290_6291 p.E2097fs 1.000:1.000 NULL pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors V2 HGNC ENSG00000166833 tier1 103 0 0.00 100 21 17.36 YIPF7 0 genome.wustl.edu 37 4 44626623 44626623 + Silent SNP T T A TCGA-IW-A3M5-01A-22D-A21Q-09 TCGA-IW-A3M5-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 03ced0ce-186a-4349-8d98-572c2bc90382 e5aba172-82cb-406e-9841-d2568d14b2fc 4 44626623 44626623 T A SNP YIPF7 ENST00000332990 human ensembl 74_37 -1 known silent c.675 p.S225 0.331 pfam_Yip1 pfam_Yip1 - no_errors YIPF7 HGNC ENSG00000177752 tier1 - - 22 0 0.00 3 14 82.35 PBX2P1 0 genome.wustl.edu 37 3 142897134 142897136 + R DEL TTT TTT - TCGA-IW-A3M5-01A-22D-A21Q-09 TCGA-IW-A3M5-10A-01D-A21Q-09 TTT TTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 03ced0ce-186a-4349-8d98-572c2bc90382 e5aba172-82cb-406e-9841-d2568d14b2fc 3 142897134 142897136 TTT - DEL PBX2P1 ENST00000560287 human ensembl 74_37 +1 known rna NULL NULL 0.986:0.988:0.989 - - - no_errors PBX2P1 HGNC ENSG00000244171 tier1 39 0 0.00 39 7 15.22 OR8G5 0 genome.wustl.edu 37 11 124135362 124135362 + Missense_Mutation SNP T T G TCGA-IW-A3M5-01A-22D-A21Q-09 TCGA-IW-A3M5-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 03ced0ce-186a-4349-8d98-572c2bc90382 e5aba172-82cb-406e-9841-d2568d14b2fc 11 124135362 124135362 T G SNP OR8G5 ENST00000524943 human ensembl 74_37 +1 known missense c.640 p.C214G 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8G5 HGNC ENSG00000255298 tier1 - - 71 0 0.00 8 45 84.91 PLEKHA4 0 genome.wustl.edu 37 19 49362197 49362197 + Missense_Mutation SNP G G A TCGA-IW-A3M5-01A-22D-A21Q-09 TCGA-IW-A3M5-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 03ced0ce-186a-4349-8d98-572c2bc90382 e5aba172-82cb-406e-9841-d2568d14b2fc 19 49362197 49362197 G A SNP PLEKHA4 ENST00000263265 human ensembl 74_37 -1 known missense c.892 p.R298C 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHA4 HGNC ENSG00000105559 tier1 - - 29 0 0.00 22 17 43.59 ILVBL 0 genome.wustl.edu 37 19 15235791 15235791 + Missense_Mutation SNP G G C TCGA-IW-A3M5-01A-22D-A21Q-09 TCGA-IW-A3M5-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 03ced0ce-186a-4349-8d98-572c2bc90382 e5aba172-82cb-406e-9841-d2568d14b2fc 19 15235791 15235791 G C SNP ILVBL ENST00000263383 human ensembl 74_37 -1 known missense c.80 p.A27G 0.746 NULL pfam_Thiamin_PyroP_enz_TPP-bd_dom,pfam_TPP_enzyme-bd_C,pfam_Thiamin_PyroP_enz_cen_dom - no_errors ILVBL HGNC ENSG00000105135 tier1 - - 33 0 0.00 23 6 20.69 KAT6B 0 genome.wustl.edu 37 10 76735646 76735646 + Silent SNP C C G TCGA-IW-A3M5-01A-22D-A21Q-09 TCGA-IW-A3M5-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 03ced0ce-186a-4349-8d98-572c2bc90382 e5aba172-82cb-406e-9841-d2568d14b2fc 10 76735646 76735646 C G SNP KAT6B ENST00000287239 human ensembl 74_37 +1 known silent c.1551 p.P517 1.000 NULL pfam_MOZ_SAS,pfam_Znf_PHD-finger,pfam_Histone_H1/H5_H15,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5_H15,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors KAT6B HGNC ENSG00000156650 tier1 - - 71 0 0.00 25 53 67.95 ENSG00000227082 0 genome.wustl.edu 37 1 121138853 121138853 + R SNP G G A TCGA-IW-A3M5-01A-22D-A21Q-09 TCGA-IW-A3M5-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 03ced0ce-186a-4349-8d98-572c2bc90382 e5aba172-82cb-406e-9841-d2568d14b2fc 1 121138853 121138853 G A SNP ENSG00000227082 ENST00000417218 human ensembl 74_37 +1 known rna NULL NULL 0.951 - - - no_errors AL592494.5 Clone_based_vega_gene ENSG00000227082 tier1 rs184767318 - 15 0 0.00 9 5 35.71 ABCC11 0 genome.wustl.edu 37 16 48234247 48234247 + Silent SNP C C T TCGA-IW-A3M5-01A-22D-A21Q-09 TCGA-IW-A3M5-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 03ced0ce-186a-4349-8d98-572c2bc90382 e5aba172-82cb-406e-9841-d2568d14b2fc 16 48234247 48234247 C T SNP ABCC11 ENST00000356608 human ensembl 74_37 -1 known silent c.2022 p.E674 0.959 superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC11 HGNC ENSG00000121270 tier1 - - 77 0 0.00 70 10 12.50 ENSG00000259605 0 genome.wustl.edu 37 19 46273040 46273042 + R DEL AAT AAT - TCGA-IW-A3M5-01A-22D-A21Q-09 TCGA-IW-A3M5-10A-01D-A21Q-09 AAT AAT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 03ced0ce-186a-4349-8d98-572c2bc90382 e5aba172-82cb-406e-9841-d2568d14b2fc 19 46273040 46273042 AAT - DEL ENSG00000259605 ENST00000592217 human ensembl 74_37 +1 known rna NULL NULL 1.000:1.000:1.000 - - - no_errors AC074212.5 Clone_based_vega_gene ENSG00000259605 tier1 100 0 0.00 64 30 31.91 GIN1 0 genome.wustl.edu 37 5 102440484 102440484 + Missense_Mutation SNP G G A TCGA-IW-A3M5-01A-22D-A21Q-09 TCGA-IW-A3M5-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 03ced0ce-186a-4349-8d98-572c2bc90382 e5aba172-82cb-406e-9841-d2568d14b2fc 5 102440484 102440484 G A SNP GIN1 ENST00000399004 human ensembl 74_37 -1 known missense c.400 p.L134F 0.513 superfamily_RNaseH-like_dom pfam_Integrase_cat-core,pfam_Znf_H2C2_histone_UAS-bd,superfamily_RNaseH-like_dom,pfscan_Integrase_cat-core - no_errors GIN1 HGNC ENSG00000145723 tier1 - - 35 0 0.00 38 5 11.63 AMY2B 0 genome.wustl.edu 37 1 104115829 104115829 + Missense_Mutation SNP G G T TCGA-IW-A3M5-01A-22D-A21Q-09 TCGA-IW-A3M5-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 03ced0ce-186a-4349-8d98-572c2bc90382 e5aba172-82cb-406e-9841-d2568d14b2fc 1 104115829 104115829 G T SNP AMY2B ENST00000361355 human ensembl 74_37 +1 known missense c.460 p.G154C 0.979 pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom pfam_Glyco_hydro_13_cat_dom,pfam_A-amylase_b_C,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom,smart_A-amylase_b_C,prints_Alpha_amylase - no_errors AMY2B HGNC ENSG00000240038 tier1 - - 221 0 0.00 211 72 25.35 CCDC62 0 genome.wustl.edu 37 12 123286397 123286397 + Frame_Shift_Del DEL A A - TCGA-IW-A3M5-01A-22D-A21Q-09 TCGA-IW-A3M5-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 03ced0ce-186a-4349-8d98-572c2bc90382 e5aba172-82cb-406e-9841-d2568d14b2fc 12 123286397 123286397 A - DEL CCDC62 ENST00000253079 human ensembl 74_37 +1 known frame_shift_del c.1704 p.S569fs 0.000 NULL superfamily_Prefoldin - no_errors CCDC62 HGNC ENSG00000130783 tier1 52 0 0.00 53 8 13.11 FAM83A 0 genome.wustl.edu 37 8 124219460 124219460 + Silent SNP G G A TCGA-IW-A3M5-01A-22D-A21Q-09 TCGA-IW-A3M5-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 03ced0ce-186a-4349-8d98-572c2bc90382 e5aba172-82cb-406e-9841-d2568d14b2fc 8 124219460 124219460 G A SNP FAM83A ENST00000318462 human ensembl 74_37 +1 known silent c.837 p.V279 0.993 pfam_DUF1669 pfam_DUF1669 - no_errors FAM83A HGNC ENSG00000147689 tier1 - - 39 0 0.00 66 9 12.00 NXF4 0 genome.wustl.edu 37 X 101822851 101822851 + R SNP C C T TCGA-IW-A3M5-01A-22D-A21Q-09 TCGA-IW-A3M5-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 03ced0ce-186a-4349-8d98-572c2bc90382 e5aba172-82cb-406e-9841-d2568d14b2fc X 101822851 101822851 C T SNP NXF4 ENST00000360035 human ensembl 74_37 +1 known rna NULL NULL 0.303 - - - no_errors NXF4 HGNC ENSG00000196970 tier1 - - 142 0 0.00 106 15 12.40 HUWE1 0 genome.wustl.edu 37 X 53657850 53657850 + R SNP C C G TCGA-IW-A3M5-01A-22D-A21Q-09 TCGA-IW-A3M5-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 03ced0ce-186a-4349-8d98-572c2bc90382 e5aba172-82cb-406e-9841-d2568d14b2fc X 53657850 53657850 C G SNP HUWE1 ENST00000471676 human ensembl 74_37 -1 known rna NULL NULL 0.006 - - - no_errors HUWE1 HGNC ENSG00000086758 tier1 - - 92 0 0.00 76 9 10.59 GDF10 0 genome.wustl.edu 37 10 48429409 48429409 + Silent SNP G G T TCGA-IW-A3M5-01A-22D-A21Q-09 TCGA-IW-A3M5-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 03ced0ce-186a-4349-8d98-572c2bc90382 e5aba172-82cb-406e-9841-d2568d14b2fc 10 48429409 48429409 G T SNP GDF10 ENST00000224605 human ensembl 74_37 -1 known silent c.477 p.G159 0.987 pirsf_BMP3/GDF10 pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,pirsf_BMP3/GDF10 - no_errors GDF10 HGNC ENSG00000107623 tier1 - - 12 0 0.00 0 15 100.00 ESPNL 0 genome.wustl.edu 37 2 239040214 239040214 + Silent SNP C C T TCGA-IW-A3M5-01A-22D-A21Q-09 TCGA-IW-A3M5-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 03ced0ce-186a-4349-8d98-572c2bc90382 e5aba172-82cb-406e-9841-d2568d14b2fc 2 239040214 239040214 C T SNP ESPNL ENST00000343063 human ensembl 74_37 +1 known silent c.2859 p.H953 0.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ESPNL HGNC ENSG00000144488 tier1 - - 20 0 0.00 9 8 47.06 OLA1 0 genome.wustl.edu 37 2 175006589 175006601 + Frame_Shift_Del DEL AGCCACCTTTTCT AGCCACCTTTTCT - TCGA-IW-A3M5-01A-22D-A21Q-09 TCGA-IW-A3M5-10A-01D-A21Q-09 AGCCACCTTTTCT AGCCACCTTTTCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 03ced0ce-186a-4349-8d98-572c2bc90382 e5aba172-82cb-406e-9841-d2568d14b2fc 2 175006589 175006601 AGCCACCTTTTCT - DEL OLA1 ENST00000284719 human ensembl 74_37 -1 known frame_shift_del c.513_501 p.E168fs 0.999:1.000:1.000:1.000:1.000:0.999:0.969:1.000:1.000:1.000:1.000:1.000:1.000 superfamily_P-loop_NTPase,pirsf_CHP00092,tigrfam_CHP00092 pfam_DUF933,pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,superfamily_P-loop_NTPase,superfamily_TGS-like,pirsf_CHP00092,prints_GTP_binding_domain,tigrfam_CHP00092 - no_errors OLA1 HGNC ENSG00000138430 tier1 ZNF595 0 genome.wustl.edu 37 4 87460 87460 + R SNP G G T TCGA-IW-A3M5-01A-22D-A21Q-09 TCGA-IW-A3M5-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 03ced0ce-186a-4349-8d98-572c2bc90382 e5aba172-82cb-406e-9841-d2568d14b2fc 4 87460 87460 G T SNP ZNF595 ENST00000339368 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors ZNF595 HGNC ENSG00000197701 tier1 - - 31 0 0.00 18 3 14.29 DEFB106B 0 genome.wustl.edu 37 8 7340204 7340204 + Silent SNP A A G TCGA-IW-A3M5-01A-22D-A21Q-09 TCGA-IW-A3M5-10A-01D-A21Q-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 03ced0ce-186a-4349-8d98-572c2bc90382 e5aba172-82cb-406e-9841-d2568d14b2fc 8 7340204 7340204 A G SNP DEFB106B ENST00000335479 human ensembl 74_37 -1 known silent c.120 p.N40 0.791 NULL NULL - no_errors DEFB106B HGNC ENSG00000187082 tier1 rs138253070 - 27 0 0.00 38 8 17.39 MMS22L 0 genome.wustl.edu 37 6 97626435 97626435 + Missense_Mutation SNP T T G TCGA-IW-A3M5-01A-22D-A21Q-09 TCGA-IW-A3M5-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 03ced0ce-186a-4349-8d98-572c2bc90382 e5aba172-82cb-406e-9841-d2568d14b2fc 6 97626435 97626435 T G SNP MMS22L ENST00000275053 human ensembl 74_37 -1 known missense c.2563 p.K855Q 0.895 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MMS22L HGNC ENSG00000146263 tier1 - - 51 0 0.00 30 27 47.37 COL13A1 0 genome.wustl.edu 37 10 71654434 71654434 + Missense_Mutation SNP C C T TCGA-IW-A3M5-01A-22D-A21Q-09 TCGA-IW-A3M5-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 03ced0ce-186a-4349-8d98-572c2bc90382 e5aba172-82cb-406e-9841-d2568d14b2fc 10 71654434 71654434 C T SNP COL13A1 ENST00000356340 human ensembl 74_37 +1 known missense c.607 p.P203S 1.000 pfam_Collagen pfam_Collagen - no_errors COL13A1 HGNC ENSG00000197467 tier1 - - 71 0 0.00 78 9 10.23 ELFN2 0 genome.wustl.edu 37 22 37771877 37771888 + R DEL CCTCCTCCTCCT CCTCCTCCTCCT - TCGA-IW-A3M5-01A-22D-A21Q-09 TCGA-IW-A3M5-10A-01D-A21Q-09 CCTCCTCCTCCT CCTCCTCCTCCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 03ced0ce-186a-4349-8d98-572c2bc90382 e5aba172-82cb-406e-9841-d2568d14b2fc 22 37771877 37771888 CCTCCTCCTCCT - DEL ELFN2 ENST00000414347 human ensembl 74_37 -1 known rna NULL NULL 0.043:0.085:0.127:0.169:0.212:0.255:0.522:0.565:0.606:0.646:0.668:0.717 - - - no_errors ELFN2 HGNC ENSG00000166897 tier1 PPP2R1A 0 genome.wustl.edu 37 19 52715971 52715971 + Missense_Mutation SNP C C G TCGA-IW-A3M5-01A-22D-A21Q-09 TCGA-IW-A3M5-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 03ced0ce-186a-4349-8d98-572c2bc90382 e5aba172-82cb-406e-9841-d2568d14b2fc 19 52715971 52715971 C G SNP PPP2R1A ENST00000322088 human ensembl 74_37 +1 known missense c.536 p.P179R 1.000 pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors PPP2R1A HGNC ENSG00000105568 tier1 - - 45 0 0.00 37 36 49.32 SRPX 0 genome.wustl.edu 37 X 38020241 38020242 + Frame_Shift_Del DEL TG TG - TCGA-IW-A3M5-01A-22D-A21Q-09 TCGA-IW-A3M5-10A-01D-A21Q-09 TG TG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 03ced0ce-186a-4349-8d98-572c2bc90382 e5aba172-82cb-406e-9841-d2568d14b2fc X 38020241 38020242 TG - DEL SRPX ENST00000378533 human ensembl 74_37 -1 known frame_shift_del c.720_719 p.T240fs 0.413:0.998 pfam_Hyalin,pfscan_Hyalin pfam_Hyalin,pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Hyalin,pfscan_Sushi_SCR_CCP - no_errors SRPX HGNC ENSG00000101955 tier1 48 0 0.00 11 27 71.05 IQCD 0 genome.wustl.edu 37 12 113645821 113645821 + Missense_Mutation SNP T T C TCGA-IW-A3M5-01A-22D-A21Q-09 TCGA-IW-A3M5-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 03ced0ce-186a-4349-8d98-572c2bc90382 e5aba172-82cb-406e-9841-d2568d14b2fc 12 113645821 113645821 T C SNP IQCD ENST00000416617 human ensembl 74_37 -1 known missense c.151 p.R51G 1.000 NULL pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors IQCD HGNC ENSG00000166578 tier1 - - 136 0 0.00 225 57 20.21 KRAS 0 genome.wustl.edu 37 12 25380275 25380275 + Missense_Mutation SNP T T A TCGA-IW-A3M5-01A-22D-A21Q-09 TCGA-IW-A3M5-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 03ced0ce-186a-4349-8d98-572c2bc90382 e5aba172-82cb-406e-9841-d2568d14b2fc 12 25380275 25380275 T A SNP KRAS ENST00000256078 human ensembl 74_37 -1 known missense c.183 p.Q61H 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors KRAS HGNC ENSG00000133703 tier1 rs17851045 - 31 0 0.00 21 34 61.82 PKHD1L1 0 genome.wustl.edu 37 8 110477413 110477413 + Missense_Mutation SNP C C G TCGA-IW-A3M5-01A-22D-A21Q-09 TCGA-IW-A3M5-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 03ced0ce-186a-4349-8d98-572c2bc90382 e5aba172-82cb-406e-9841-d2568d14b2fc 8 110477413 110477413 C G SNP PKHD1L1 ENST00000378402 human ensembl 74_37 +1 known missense c.8352 p.N2784K 1.000 NULL pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1 - no_errors PKHD1L1 HGNC ENSG00000205038 tier1 - - 61 0 0.00 52 40 43.48 CNTP4 0 genome.wustl.edu 37 16 76509936 76509936 + Missense_Mutation SNP C C G TCGA-IW-A3M5-01A-22D-A21Q-09 TCGA-IW-A3M5-10A-01D-A21Q-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 03ced0ce-186a-4349-8d98-572c2bc90382 e5aba172-82cb-406e-9841-d2568d14b2fc 16 76509936 76509936 C G SNP CNTP4 ENST00000307431 human ensembl 74_37 +1 known missense c.1753 p.H585D 1.000 superfamily_Fibrinogen_a/b/g_C_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTP4 HGNC ENSG00000152910 tier1 - - 37 0 0.00 37 10 21.28