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 AMMECR1 0 genome.wustl.edu 37 X 109561207 109561209 + In_Frame_Del DEL GGA GGA - TCGA-E2-A14O-01A-31D-A10Y-09 TCGA-E2-A14O-10A-01D-A110-09 GGA GGA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6ab6f8d-0e65-40a3-bf98-7249e4075395 3315cbc2-91d3-407d-b030-0d20dc9f4aff X 109561207 109561209 GGA - DEL AMMECR1 ENST00000262844 human ensembl 69_37n -1 known in_frame_del c.93_91 p.S31in_frame_del 0.359:0.594:0.602 NULL pfam_AMMECR1_domain,pfscan_AMMECR1_domain,tigrfam_AMMECR1 - no_errors AMMECR1 HGNC ENSG00000101935 9 0 0.00 6 2 25.00 - - - ARHGAP11A 0 genome.wustl.edu 37 15 32929250 32929250 + Missense_Mutation SNP C C A TCGA-E2-A14O-01A-31D-A10Y-09 TCGA-E2-A14O-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6ab6f8d-0e65-40a3-bf98-7249e4075395 3315cbc2-91d3-407d-b030-0d20dc9f4aff 15 32929250 32929250 C A SNP ARHGAP11A ENST00000361627 human ensembl 69_37n +1 known missense c.2276 p.A759D 0.007 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP11A HGNC ENSG00000198826 33 0 0.00 19 26 57.78 - - - ASTN2 0 genome.wustl.edu 37 9 119188282 119188282 + Missense_Mutation SNP C C T TCGA-E2-A14O-01A-31D-A10Y-09 TCGA-E2-A14O-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6ab6f8d-0e65-40a3-bf98-7249e4075395 3315cbc2-91d3-407d-b030-0d20dc9f4aff 9 119188282 119188282 C T SNP ASTN2 ENST00000313400 human ensembl 69_37n -1 known missense c.3868 p.V1290M 0.996 NULL pfam_MACPF,superfamily_Fibronectin_type3,smart_MACPF - no_errors ASTN2 HGNC ENSG00000148219 94 0 0.00 28 84 75.00 - - - BTBD6 0 genome.wustl.edu 37 14 105716214 105716214 + Silent SNP C C T TCGA-E2-A14O-01A-31D-A10Y-09 TCGA-E2-A14O-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6ab6f8d-0e65-40a3-bf98-7249e4075395 3315cbc2-91d3-407d-b030-0d20dc9f4aff 14 105716214 105716214 C T SNP BTBD6 ENST00000392554 human ensembl 69_37n +1 known silent c.663 p.S221 0.003 pfam_BACK,smart_BACK pfam_PHR,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors BTBD6 HGNC ENSG00000184887 21 0 0.00 24 17 41.46 - - - C1orf185 0 genome.wustl.edu 37 1 51584393 51584393 + Missense_Mutation SNP C C T TCGA-E2-A14O-01A-31D-A10Y-09 TCGA-E2-A14O-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6ab6f8d-0e65-40a3-bf98-7249e4075395 3315cbc2-91d3-407d-b030-0d20dc9f4aff 1 51584393 51584393 C T SNP C1orf185 ENST00000371759 human ensembl 69_37n +1 known missense c.178 p.P60S 0.133 NULL NULL - no_errors C1orf185 HGNC ENSG00000204006 41 0 0.00 36 56 60.87 - - - COL1A1 0 genome.wustl.edu 37 17 48267939 48267939 + Missense_Mutation SNP C C T TCGA-E2-A14O-01A-31D-A10Y-09 TCGA-E2-A14O-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6ab6f8d-0e65-40a3-bf98-7249e4075395 3315cbc2-91d3-407d-b030-0d20dc9f4aff 17 48267939 48267939 C T SNP COL1A1 ENST00000225964 human ensembl 69_37n -1 known missense c.2362 p.G788S 1.000 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL1A1 HGNC ENSG00000108821 100 0 0.00 98 78 44.32 - - - DAZAP1 0 genome.wustl.edu 37 19 1418354 1418354 + Missense_Mutation SNP G G T TCGA-E2-A14O-01A-31D-A10Y-09 TCGA-E2-A14O-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6ab6f8d-0e65-40a3-bf98-7249e4075395 3315cbc2-91d3-407d-b030-0d20dc9f4aff 19 1418354 1418354 G T SNP DAZAP1 ENST00000591830 human ensembl 69_37n +1 novel missense c.50 p.R17L 0.140 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region DAZAP1 HGNC ENSG00000071626 30 0 0.00 42 12 22.22 - - - DHX32 0 genome.wustl.edu 37 10 127530353 127530353 + Missense_Mutation SNP T T G TCGA-E2-A14O-01A-31D-A10Y-09 TCGA-E2-A14O-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6ab6f8d-0e65-40a3-bf98-7249e4075395 3315cbc2-91d3-407d-b030-0d20dc9f4aff 10 127530353 127530353 T G SNP DHX32 ENST00000284690 human ensembl 69_37n -1 known missense c.1502 p.D501A 1.000 pfam_Helicase-assoc_dom,smart_Helicase-assoc_dom pfam_Helicase-assoc_dom,pfam_DUF1605,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd - no_errors DHX32 HGNC ENSG00000089876 43 0 0.00 93 69 42.33 - - - EIF5 0 genome.wustl.edu 37 14 103802230 103802230 + Missense_Mutation SNP C C G TCGA-E2-A14O-01A-31D-A10Y-09 TCGA-E2-A14O-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6ab6f8d-0e65-40a3-bf98-7249e4075395 3315cbc2-91d3-407d-b030-0d20dc9f4aff 14 103802230 103802230 C G SNP EIF5 ENST00000216554 human ensembl 69_37n +1 known missense c.33 p.D11E 1.000 pfam_Transl_init_fac_IF2/IF5,superfamily_Transl_init_fac_IF2/IF5_N pfam_Transl_init_fac_IF2/IF5,pfam_W2_domain,superfamily_ARM-type_fold,superfamily_Transl_init_fac_IF2/IF5_N,superfamily_Transl_init_fac_IF2/IF5_Zn-bd,smart_Transl_init_fac_IF2/IF5,smart_W2_domain - no_errors EIF5 HGNC ENSG00000100664 110 0 0.00 113 123 52.12 - - - EMR2 0 genome.wustl.edu 37 19 14866468 14866468 + Missense_Mutation SNP G G A TCGA-E2-A14O-01A-31D-A10Y-09 TCGA-E2-A14O-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6ab6f8d-0e65-40a3-bf98-7249e4075395 3315cbc2-91d3-407d-b030-0d20dc9f4aff 19 14866468 14866468 G A SNP EMR2 ENST00000315576 human ensembl 69_37n -1 known missense c.1414 p.R472C 0.047 NULL pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd,pfam_GPS_dom,pfam_EGF-like_dom,smart_EGF-like,smart_EGF-like_Ca-bd,smart_GPS_dom,prints_GPCR_2_CD97,prints_GPCR_2_EMR1_rcpt,prints_GPCR_2_secretin-like,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors EMR2 HGNC ENSG00000127507 221 0 0.00 178 117 39.66 - - - ERVW-1 0 genome.wustl.edu 37 7 92098206 92098206 + Missense_Mutation SNP A A T TCGA-E2-A14O-01A-31D-A10Y-09 TCGA-E2-A14O-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6ab6f8d-0e65-40a3-bf98-7249e4075395 3315cbc2-91d3-407d-b030-0d20dc9f4aff 7 92098206 92098206 A T SNP ERVW-1 ENST00000493463 human ensembl 69_37n -1 known missense c.1490 p.I497N 0.371 NULL pfam_TLV/ENV_coat_polyprotein - no_errors ERVW-1 HGNC ENSG00000242950 15 0 0.00 7 6 46.15 - - - FLII 0 genome.wustl.edu 37 17 18149307 18149307 + Missense_Mutation SNP C C T TCGA-E2-A14O-01A-31D-A10Y-09 TCGA-E2-A14O-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6ab6f8d-0e65-40a3-bf98-7249e4075395 3315cbc2-91d3-407d-b030-0d20dc9f4aff 17 18149307 18149307 C T SNP FLII ENST00000327031 human ensembl 69_37n -1 known missense c.3337 p.E1113K 1.000 smart_Gelsolin pfam_Gelsolin_dom,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Gelsolin,prints_Gelsolin - no_errors FLII HGNC ENSG00000177731 107 0 0.00 461 75 13.99 - - - FRG1B 0 genome.wustl.edu 37 20 29632638 29632638 + Missense_Mutation SNP C C A TCGA-E2-A14O-01A-31D-A10Y-09 TCGA-E2-A14O-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6ab6f8d-0e65-40a3-bf98-7249e4075395 3315cbc2-91d3-407d-b030-0d20dc9f4aff 20 29632638 29632638 C A SNP FRG1B ENST00000278882 human ensembl 69_37n +1 known missense c.453 p.H151Q 0.999 pfam_FRG1 pfam_FRG1,superfamily_Actin_cross-linking - no_errors FRG1B HGNC ENSG00000149531 20 0 0.00 51 17 25.00 - - - GLYR1 0 genome.wustl.edu 37 16 4862120 4862122 + In_Frame_Del DEL AGC AGC - TCGA-E2-A14O-01A-31D-A10Y-09 TCGA-E2-A14O-10A-01D-A110-09 AGC AGC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6ab6f8d-0e65-40a3-bf98-7249e4075395 3315cbc2-91d3-407d-b030-0d20dc9f4aff 16 4862120 4862122 AGC - DEL GLYR1 ENST00000321919 human ensembl 69_37n -1 known in_frame_del c.1249_1247 p.C416in_frame_del 1.000:1.000:1.000 pfam_6PGDH_NADP-bd pfam_6PGDH_NADP-bd,pfam_PWWP,pfam_NADP_OxRdtase_F420,superfamily_6-PGluconate_DH_C-like,smart_PWWP,pfscan_PWWP - no_errors GLYR1 HGNC ENSG00000140632 54 0 0.00 74 55 41.98 - - - IGKV1-39 0 genome.wustl.edu 37 2 89619806 89619806 + Nonsense_Mutation SNP G G A TCGA-E2-A14O-01A-31D-A10Y-09 TCGA-E2-A14O-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6ab6f8d-0e65-40a3-bf98-7249e4075395 3315cbc2-91d3-407d-b030-0d20dc9f4aff 2 89619806 89619806 G A SNP IGKV1-39 ENST00000498574 human ensembl 69_37n -1 known nonsense c.52 p.R18* 0.010 NULL pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like - no_stop_codon IGKV1-39 HGNC ENSG00000242371 44 0 0.00 26 12 31.58 - - - IRAK1 0 genome.wustl.edu 37 X 153284685 153284685 + Silent SNP C C A TCGA-E2-A14O-01A-31D-A10Y-09 TCGA-E2-A14O-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6ab6f8d-0e65-40a3-bf98-7249e4075395 3315cbc2-91d3-407d-b030-0d20dc9f4aff X 153284685 153284685 C A SNP IRAK1 ENST00000369980 human ensembl 69_37n -1 known silent c.399 p.R133 0.037 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death,superfamily_Kinase-like_dom,superfamily_DEATH-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors IRAK1 HGNC ENSG00000184216 52 0 0.00 52 20 27.78 - - - MARVELD3 0 genome.wustl.edu 37 16 71660364 71660365 + Frame_Shift_Del DEL GA GA - TCGA-E2-A14O-01A-31D-A10Y-09 TCGA-E2-A14O-10A-01D-A110-09 GA GA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6ab6f8d-0e65-40a3-bf98-7249e4075395 3315cbc2-91d3-407d-b030-0d20dc9f4aff 16 71660364 71660365 GA - DEL MARVELD3 ENST00000299952 human ensembl 69_37n +1 known frame_shift_del c.232_233 p.R81fs 0.012:0.012 NULL NULL - no_errors MARVELD3 HGNC ENSG00000140832 30 0 0.00 19 3 13.64 - - - MLLT10 0 genome.wustl.edu 37 10 21959565 21959565 + Missense_Mutation SNP G G A TCGA-E2-A14O-01A-31D-A10Y-09 TCGA-E2-A14O-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6ab6f8d-0e65-40a3-bf98-7249e4075395 3315cbc2-91d3-407d-b030-0d20dc9f4aff 10 21959565 21959565 G A SNP MLLT10 ENST00000307729 human ensembl 69_37n +1 known missense c.983 p.R328K 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors MLLT10 HGNC ENSG00000078403 72 0 0.00 91 91 50.00 - - - NBPF1 0 genome.wustl.edu 37 1 16909220 16909220 + RNA SNP T T C TCGA-E2-A14O-01A-31D-A10Y-09 TCGA-E2-A14O-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6ab6f8d-0e65-40a3-bf98-7249e4075395 3315cbc2-91d3-407d-b030-0d20dc9f4aff 1 16909220 16909220 T C SNP NBPF1 ENST00000392963 human ensembl 69_37n -1 known rna NULL NULL 0.950 - - - no_errors NBPF1 HGNC ENSG00000219481 9 0 0.00 3 4 57.14 - - - NKTR 0 genome.wustl.edu 37 3 42659115 42659115 + Missense_Mutation SNP A A G TCGA-E2-A14O-01A-31D-A10Y-09 TCGA-E2-A14O-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6ab6f8d-0e65-40a3-bf98-7249e4075395 3315cbc2-91d3-407d-b030-0d20dc9f4aff 3 42659115 42659115 A G SNP NKTR ENST00000232978 human ensembl 69_37n +1 known missense c.112 p.N38D 1.000 pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom - no_errors NKTR HGNC ENSG00000114857 192 0 0.00 397 240 37.62 - - - OR2T2 0 genome.wustl.edu 37 1 248616513 248616513 + Missense_Mutation SNP C C T TCGA-E2-A14O-01A-31D-A10Y-09 TCGA-E2-A14O-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6ab6f8d-0e65-40a3-bf98-7249e4075395 3315cbc2-91d3-407d-b030-0d20dc9f4aff 1 248616513 248616513 C T SNP OR2T2 ENST00000342927 human ensembl 69_37n +1 known missense c.415 p.R139C 0.000 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR2T2 HGNC ENSG00000196240 210 0 0.00 350 72 17.06 - - - PCDH7 0 genome.wustl.edu 37 4 30725334 30725334 + Missense_Mutation SNP G G T TCGA-E2-A14O-01A-31D-A10Y-09 TCGA-E2-A14O-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6ab6f8d-0e65-40a3-bf98-7249e4075395 3315cbc2-91d3-407d-b030-0d20dc9f4aff 4 30725334 30725334 G T SNP PCDH7 ENST00000543491 human ensembl 69_37n +1 known missense c.2290 p.A764S 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH7 HGNC ENSG00000169851 54 0 0.00 36 4 10.00 - - - PITPNM1 0 genome.wustl.edu 37 11 67269453 67269453 + Missense_Mutation SNP C C T TCGA-E2-A14O-01A-31D-A10Y-09 TCGA-E2-A14O-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6ab6f8d-0e65-40a3-bf98-7249e4075395 3315cbc2-91d3-407d-b030-0d20dc9f4aff 11 67269453 67269453 C T SNP PITPNM1 ENST00000356404 human ensembl 69_37n -1 known missense c.520 p.D174N 1.000 pfam_PI_transfer pfam_PI_transfer,pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD,prints_PI_transfer - no_errors PITPNM1 HGNC ENSG00000110697 58 0 0.00 260 41 13.58 - - - PJA1 0 genome.wustl.edu 37 X 68382547 68382547 + Nonsense_Mutation SNP G G A TCGA-E2-A14O-01A-31D-A10Y-09 TCGA-E2-A14O-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6ab6f8d-0e65-40a3-bf98-7249e4075395 3315cbc2-91d3-407d-b030-0d20dc9f4aff X 68382547 68382547 G A SNP PJA1 ENST00000361478 human ensembl 69_37n -1 known nonsense c.535 p.R179* 0.001 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors PJA1 HGNC ENSG00000181191 61 0 0.00 121 44 26.51 - - - PLXNA4 0 genome.wustl.edu 37 7 131908302 131908302 + Missense_Mutation SNP C C T TCGA-E2-A14O-01A-31D-A10Y-09 TCGA-E2-A14O-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6ab6f8d-0e65-40a3-bf98-7249e4075395 3315cbc2-91d3-407d-b030-0d20dc9f4aff 7 131908302 131908302 C T SNP PLXNA4 ENST00000321063 human ensembl 69_37n -1 known missense c.2081 p.R694Q 1.000 pfam_Plexin_repeat,superfamily_Plexin-like_fold,smart_Plexin-like pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNA4 HGNC ENSG00000221866 65 0 0.00 84 30 26.32 - - - PLXND1 0 genome.wustl.edu 37 3 129289712 129289712 + Missense_Mutation SNP C C T TCGA-E2-A14O-01A-31D-A10Y-09 TCGA-E2-A14O-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6ab6f8d-0e65-40a3-bf98-7249e4075395 3315cbc2-91d3-407d-b030-0d20dc9f4aff 3 129289712 129289712 C T SNP PLXND1 ENST00000324093 human ensembl 69_37n -1 known missense c.3667 p.D1223N 0.998 superfamily_Ig_E-set pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT_TIG_rcpt,pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXND1 HGNC ENSG00000004399 95 0 0.00 96 71 42.51 - - - PPM1D 0 genome.wustl.edu 37 17 58740624 58740624 + Frame_Shift_Del DEL A A - TCGA-E2-A14O-01A-31D-A10Y-09 TCGA-E2-A14O-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6ab6f8d-0e65-40a3-bf98-7249e4075395 3315cbc2-91d3-407d-b030-0d20dc9f4aff 17 58740624 58740624 A - DEL PPM1D ENST00000305921 human ensembl 69_37n +1 known frame_shift_del c.1529 p.N512fs 0.997 NULL pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like - no_errors PPM1D HGNC ENSG00000170836 23 0 0.00 44 15 24.59 - - - RASAL3 0 genome.wustl.edu 37 19 15565621 15565621 + Missense_Mutation SNP C C T TCGA-E2-A14O-01A-31D-A10Y-09 TCGA-E2-A14O-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6ab6f8d-0e65-40a3-bf98-7249e4075395 3315cbc2-91d3-407d-b030-0d20dc9f4aff 19 15565621 15565621 C T SNP RASAL3 ENST00000343625 human ensembl 69_37n -1 known missense c.1805 p.R602Q 0.992 pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,smart_RasGAP,pfscan_RasGAP pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RasGAP,pfscan_RasGAP - no_errors RASAL3 HGNC ENSG00000105122 91 0 0.00 52 28 35.00 - - - SEMA4G 0 genome.wustl.edu 37 10 102732993 102732993 + Missense_Mutation SNP T T G TCGA-E2-A14O-01A-31D-A10Y-09 TCGA-E2-A14O-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6ab6f8d-0e65-40a3-bf98-7249e4075395 3315cbc2-91d3-407d-b030-0d20dc9f4aff 10 102732993 102732993 T G SNP SEMA4G ENST00000210633 human ensembl 69_37n +1 known missense c.232 p.S78A 1.000 pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_Ig_sub,pfscan_Semaphorin/CD100_Ag,pfscan_Ig-like - no_errors SEMA4G HGNC ENSG00000095539 42 0 0.00 25 24 48.98 - - - SPRYD4 0 genome.wustl.edu 37 12 56862936 56862936 + Missense_Mutation SNP A A C TCGA-E2-A14O-01A-31D-A10Y-09 TCGA-E2-A14O-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6ab6f8d-0e65-40a3-bf98-7249e4075395 3315cbc2-91d3-407d-b030-0d20dc9f4aff 12 56862936 56862936 A C SNP SPRYD4 ENST00000338146 human ensembl 69_37n +1 known missense c.199 p.N67H 1.000 superfamily_ConA-like_lec_gl,pfscan_B30.2/SPRY pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin - no_errors SPRYD4 HGNC ENSG00000176422 23 0 0.00 35 18 33.96 - - - STMN4 0 genome.wustl.edu 37 8 27098633 27098633 + Missense_Mutation SNP G G A TCGA-E2-A14O-01A-31D-A10Y-09 TCGA-E2-A14O-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6ab6f8d-0e65-40a3-bf98-7249e4075395 3315cbc2-91d3-407d-b030-0d20dc9f4aff 8 27098633 27098633 G A SNP STMN4 ENST00000350889 human ensembl 69_37n -1 known missense c.337 p.R113W 1.000 pfam_Stathmin,superfamily_Stathmin,pirsf_Stathmin,prints_Stathmin pfam_Stathmin,superfamily_Stathmin,pirsf_Stathmin,prints_Stathmin - no_errors STMN4 HGNC ENSG00000015592 127 0 0.00 212 57 21.19 - - - SYT12 0 genome.wustl.edu 37 11 66811295 66811295 + Missense_Mutation SNP G G T TCGA-E2-A14O-01A-31D-A10Y-09 TCGA-E2-A14O-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6ab6f8d-0e65-40a3-bf98-7249e4075395 3315cbc2-91d3-407d-b030-0d20dc9f4aff 11 66811295 66811295 G T SNP SYT12 ENST00000393946 human ensembl 69_37n +1 known missense c.808 p.G270C 0.998 superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors SYT12 HGNC ENSG00000173227 71 0 0.00 352 49 12.22 - - - TANC2 0 genome.wustl.edu 37 17 61498828 61498828 + Missense_Mutation SNP A A G TCGA-E2-A14O-01A-31D-A10Y-09 TCGA-E2-A14O-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6ab6f8d-0e65-40a3-bf98-7249e4075395 3315cbc2-91d3-407d-b030-0d20dc9f4aff 17 61498828 61498828 A G SNP TANC2 ENST00000424789 human ensembl 69_37n +1 known missense c.5485 p.T1829A 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TANC2 HGNC ENSG00000170921 85 0 0.00 111 78 40.84 - - - TBL3 0 genome.wustl.edu 37 16 2027601 2027601 + Missense_Mutation SNP G G A TCGA-E2-A14O-01A-31D-A10Y-09 TCGA-E2-A14O-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6ab6f8d-0e65-40a3-bf98-7249e4075395 3315cbc2-91d3-407d-b030-0d20dc9f4aff 16 2027601 2027601 G A SNP TBL3 ENST00000568546 human ensembl 69_37n +1 known missense c.1829 p.G610E 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_SSU_processome_Utp13,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors TBL3 HGNC ENSG00000183751 37 0 0.00 34 32 48.48 - - - TRIP10 0 genome.wustl.edu 37 19 6750615 6750615 + Missense_Mutation SNP G G T TCGA-E2-A14O-01A-31D-A10Y-09 TCGA-E2-A14O-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6ab6f8d-0e65-40a3-bf98-7249e4075395 3315cbc2-91d3-407d-b030-0d20dc9f4aff 19 6750615 6750615 G T SNP TRIP10 ENST00000313244 human ensembl 69_37n +1 known missense c.1628 p.G543V 1.000 superfamily_SH3_domain,smart_SH3_domain pfam_FCH,pfam_SH3_domain,superfamily_SH3_domain,smart_FCH,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain - no_errors TRIP10 HGNC ENSG00000125733 68 0 0.00 79 36 31.30 - - - ZNF705G 0 genome.wustl.edu 37 8 7217792 7217792 + Nonsense_Mutation SNP C C A TCGA-E2-A14O-01A-31D-A10Y-09 TCGA-E2-A14O-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d6ab6f8d-0e65-40a3-bf98-7249e4075395 3315cbc2-91d3-407d-b030-0d20dc9f4aff 8 7217792 7217792 C A SNP ZNF705G ENST00000400078 human ensembl 69_37n -1 known nonsense c.202 p.E68* 0.514 pfscan_Krueppel-associated_box 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 ZNF705G HGNC ENSG00000215372 294 0 0.00 434 216 33.23 - - -