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 AOX2P 344454 genome.wustl.edu 37 2 201629486 201629486 + RNA SNP G G T TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 2 201629486 201629486 G T SNP AOX2P ENST00000467645 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors AOX2P HGNC APBB1IP 54518 genome.wustl.edu 37 10 26790038 26790038 + Missense_Mutation SNP C C A TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 10 26790038 26790038 C A SNP APBB1IP ENST00000376236 human ensembl 70_37 +1 known missense c.451 p.Q151K 0.996 NULL pfam_Ras-assoc,pfam_Pleckstrin_homology,smart_Ras-assoc,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Ras-assoc - no_errors APBB1IP HGNC APOL5 80831 genome.wustl.edu 37 22 36122624 36122624 + Missense_Mutation SNP C C T TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 22 36122624 36122624 C T SNP APOL5 ENST00000249044 human ensembl 70_37 +1 known missense c.509 p.S170L 0.580 pfam_ApoL pfam_ApoL - no_errors APOL5 HGNC ARMC5 79798 genome.wustl.edu 37 16 31476046 31476046 + Missense_Mutation SNP C C T TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 16 31476046 31476046 C T SNP ARMC5 ENST00000408912 human ensembl 70_37 +1 known missense c.1987 p.R663C 0.984 superfamily_ARM-type_fold superfamily_ARM-type_fold,superfamily_BTB/POZ_fold,smart_Armadillo,pfscan_Armadillo,pfscan_BTB/POZ-like - no_errors ARMC5 HGNC ARMCX5 64860 genome.wustl.edu 37 X 101858743 101858743 + Silent SNP C C G TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 X 101858743 101858743 C G SNP ARMCX5 ENST00000246174 human ensembl 70_37 +1 known silent c.1674 p.L558 0.997 superfamily_ARM-type_fold pfam_ARM-rpt_dom,superfamily_ARM-type_fold - no_errors ARMCX5 HGNC ASB3 51130 genome.wustl.edu 37 2 53831950 53831950 + RNA SNP G G C TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 2 53831950 53831950 G C SNP ASB3 ENST00000482339 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors ASB3 HGNC ATP11B 23200 genome.wustl.edu 37 3 182597360 182597360 + Missense_Mutation SNP G G A TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 3 182597360 182597360 G A SNP ATP11B ENST00000323116 human ensembl 70_37 +1 known missense c.2329 p.E777K 1.000 pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Plipid-transl pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP11B HGNC ATP8B3 148229 genome.wustl.edu 37 19 1785271 1785271 + Missense_Mutation SNP G G C TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 19 1785271 1785271 G C SNP ATP8B3 ENST00000539485 human ensembl 70_37 -1 known missense c.3449 p.T1150S 0.986 NULL pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP8B3 HGNC C2orf16 84226 genome.wustl.edu 37 2 27803001 27803001 + Missense_Mutation SNP G G A TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 2 27803001 27803001 G A SNP C2orf16 ENST00000408964 human ensembl 70_37 +1 known missense c.3562 p.V1188I 0.000 NULL NULL - no_errors C2orf16 HGNC CDC25B 994 genome.wustl.edu 37 20 3782721 3782721 + Missense_Mutation SNP G G A TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 20 3782721 3782721 G A SNP CDC25B ENST00000245960 human ensembl 70_37 +1 known missense c.1072 p.E358K 0.426 pfam_MPI_Phosphatase pfam_MPI_Phosphatase,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom,prints_MPI_Phosphatase - no_errors CDC25B HGNC COL6A5 256076 genome.wustl.edu 37 3 130095415 130095415 + Missense_Mutation SNP C C G TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 3 130095415 130095415 C G SNP COL6A5 ENST00000265379 human ensembl 70_37 +1 known missense c.403 p.P135A 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A5 HGNC CRK 1398 genome.wustl.edu 37 17 1326754 1326755 + RNA INS - - A TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 17 1326754 1326755 - A INS CRK ENST00000572145 human ensembl 70_37 -1 known rna NULL NULL 0.637:0.352 - - - no_errors CRK HGNC CROCC 9696 genome.wustl.edu 37 1 17280578 17280578 + RNA SNP T T C TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 1 17280578 17280578 T C SNP CROCC ENST00000494191 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors CROCC HGNC CXXC11 0 genome.wustl.edu 37 2 242812025 242812025 + Silent SNP G G A TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 2 242812025 242812025 G A SNP CXXC11 ENST00000343216 human ensembl 70_37 +1 known silent c.117 p.L39 0.036 NULL NULL - no_errors CXXC11 HGNC EFHB 151651 genome.wustl.edu 37 3 19974996 19974996 + Missense_Mutation SNP T T G TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 3 19974996 19974996 T G SNP EFHB ENST00000295824 human ensembl 70_37 -1 known missense c.515 p.E172A 0.382 NULL pfam_SPARC/Testican_Ca-bd-dom,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors EFHB HGNC ENSG00000216102 0 genome.wustl.edu 37 19 9931255 9931255 + RNA SNP T T C TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 19 9931255 9931255 T C SNP ENSG00000216102 ENST00000401283 human ensembl 70_37 +1 novel rna NULL NULL 0.000 - - - no_errors AC008752.1 Clone_based_ensembl_gene ENSG00000232274 0 genome.wustl.edu 37 1 143209751 143209751 + RNA SNP G G T TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 1 143209751 143209751 G T SNP ENSG00000232274 ENST00000412204 human ensembl 70_37 -1 known rna NULL NULL 0.023 - - - no_errors BX571672.2 Clone_based_vega_gene EPHA4 2043 genome.wustl.edu 37 2 222291250 222291250 + Missense_Mutation SNP C C T TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 2 222291250 222291250 C T SNP EPHA4 ENST00000281821 human ensembl 70_37 -1 known missense c.2780 p.R927Q 1.000 pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_SAM pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA4 HGNC EXOC3L4 91828 genome.wustl.edu 37 14 103566619 103566619 + Silent SNP G G A TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 14 103566619 103566619 G A SNP EXOC3L4 ENST00000380069 human ensembl 70_37 +1 known silent c.63 p.E21 0.000 NULL pfam_Sec6 - no_errors EXOC3L4 HGNC FAM3A 60343 genome.wustl.edu 37 X 153741234 153741234 + Missense_Mutation SNP C C T TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 X 153741234 153741234 C T SNP FAM3A ENST00000359889 human ensembl 70_37 -1 known missense c.40 p.V14I 0.000 NULL NULL - no_errors FAM3A HGNC FAM86B3P 286042 genome.wustl.edu 37 8 8095990 8095990 + RNA SNP C C G TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 8 8095990 8095990 C G SNP FAM86B3P ENST00000590591 human ensembl 70_37 +1 known rna NULL NULL 0.013 - - - no_errors FAM86B3P HGNC FCGRT 2217 genome.wustl.edu 37 19 50027862 50027862 + Missense_Mutation SNP C C T TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 19 50027862 50027862 C T SNP FCGRT ENST00000221466 human ensembl 70_37 +1 known missense c.700 p.R234W 0.000 pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like - no_errors FCGRT HGNC FERD3L 222894 genome.wustl.edu 37 7 19184752 19184752 + Silent SNP C C T TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 7 19184752 19184752 C T SNP FERD3L ENST00000275461 human ensembl 70_37 -1 known silent c.234 p.E78 0.998 NULL pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors FERD3L HGNC FJX1 24147 genome.wustl.edu 37 11 35641435 35641435 + Silent SNP C C T TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 11 35641435 35641435 C T SNP FJX1 ENST00000317811 human ensembl 70_37 +1 known silent c.1251 p.L417 0.998 pfam_DUF1193 pfam_DUF1193 - no_errors FJX1 HGNC GPC5 2262 genome.wustl.edu 37 13 92797125 92797125 + Missense_Mutation SNP C C T TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 13 92797125 92797125 C T SNP GPC5 ENST00000377067 human ensembl 70_37 +1 known missense c.1444 p.L482F 0.297 pfam_Glypican pfam_Glypican - no_errors GPC5 HGNC GPLD1 2822 genome.wustl.edu 37 6 24456815 24456815 + Missense_Mutation SNP C C T TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 6 24456815 24456815 C T SNP GPLD1 ENST00000230036 human ensembl 70_37 -1 known missense c.1059 p.M353I 0.006 NULL pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Gprt_PLipase_D - no_errors GPLD1 HGNC HECW1 23072 genome.wustl.edu 37 7 43508528 43508528 + Nonsense_Mutation SNP C C T TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 7 43508528 43508528 C T SNP HECW1 ENST00000395891 human ensembl 70_37 +1 known nonsense c.2923 p.R975* 1.000 NULL pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,superfamily_HECT,superfamily_WW_Rsp5_WWP,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP - no_errors HECW1 HGNC HIVEP2 3097 genome.wustl.edu 37 6 143074250 143074250 + Silent SNP T T C TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 6 143074250 143074250 T C SNP HIVEP2 ENST00000012134 human ensembl 70_37 -1 known silent c.7335 p.L2445 0.978 NULL pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP2 HGNC HMGXB4 10042 genome.wustl.edu 37 22 35660934 35660934 + Missense_Mutation SNP C C T TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 22 35660934 35660934 C T SNP HMGXB4 ENST00000216106 human ensembl 70_37 +1 known missense c.553 p.R185W 0.996 NULL pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors HMGXB4 HGNC KIAA0101 9768 genome.wustl.edu 37 15 64669005 64669005 + Missense_Mutation SNP G G C TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 15 64669005 64669005 G C SNP KIAA0101 ENST00000300035 human ensembl 70_37 -1 known missense c.227 p.S76C 0.705 NULL NULL - no_errors KIAA0101 HGNC KIAA1210 57481 genome.wustl.edu 37 X 118223458 118223458 + Missense_Mutation SNP C C T TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 X 118223458 118223458 C T SNP KIAA1210 ENST00000402510 human ensembl 70_37 -1 known missense c.1735 p.A579T 0.000 NULL NULL - no_errors KIAA1210 HGNC KIAA1377 57562 genome.wustl.edu 37 11 101833080 101833080 + Missense_Mutation SNP G G C TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 11 101833080 101833080 G C SNP KIAA1377 ENST00000263468 human ensembl 70_37 +1 known missense c.1314 p.E438D 0.063 NULL NULL - no_errors KIAA1377 HGNC KIAA1377 57562 genome.wustl.edu 37 11 101833184 101833184 + Missense_Mutation SNP G G C TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 11 101833184 101833184 G C SNP KIAA1377 ENST00000263468 human ensembl 70_37 +1 known missense c.1418 p.R473T 0.039 NULL NULL - no_errors KIAA1377 HGNC KIAA1377 57562 genome.wustl.edu 37 11 101833426 101833426 + Missense_Mutation SNP G G A TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 11 101833426 101833426 G A SNP KIAA1377 ENST00000263468 human ensembl 70_37 +1 known missense c.1660 p.D554N 0.991 NULL NULL - no_errors KIAA1377 HGNC KIAA1377 57562 genome.wustl.edu 37 11 101834545 101834545 + Missense_Mutation SNP G G A TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 11 101834545 101834545 G A SNP KIAA1377 ENST00000263468 human ensembl 70_37 +1 known missense c.2779 p.E927K 0.303 NULL NULL - no_errors KIAA1377 HGNC KRT6A 3853 genome.wustl.edu 37 12 52883813 52883813 + Missense_Mutation SNP C C A TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 12 52883813 52883813 C A SNP KRT6A ENST00000330722 human ensembl 70_37 -1 known missense c.1117 p.D373Y 1.000 pfam_F,superfamily_Prefoldin,prints_Keratin_II pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT6A HGNC LOC642633 642633 genome.wustl.edu 37 22 21538465 21538465 + RNA SNP G G T TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 22 21538465 21538465 G T SNP LOC642633 ENST00000451257 human ensembl 70_37 +1 known rna NULL NULL 0.028 - - - no_errors KB-1183D5.11 Clone_based_vega_gene LPIN2 9663 genome.wustl.edu 37 18 2921538 2921538 + Missense_Mutation SNP C C T TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 18 2921538 2921538 C T SNP LPIN2 ENST00000261596 human ensembl 70_37 -1 known missense c.2435 p.R812H 1.000 pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2 pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,smart_LNS2 - no_errors LPIN2 HGNC LRRC72 100506049 genome.wustl.edu 37 7 16606004 16606004 + Missense_Mutation SNP G G A TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 7 16606004 16606004 G A SNP LRRC72 ENST00000401542 human ensembl 70_37 +1 novel missense c.494 p.G165E 0.050 NULL NULL - no_errors LRRC72 HGNC LRRTM3 347731 genome.wustl.edu 37 10 68688038 68688038 + Missense_Mutation SNP G G A TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 10 68688038 68688038 G A SNP LRRTM3 ENST00000361320 human ensembl 70_37 +1 known missense c.1364 p.R455H 1.000 NULL pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRTM3 HGNC LTBP4 8425 genome.wustl.edu 37 19 41105464 41105464 + Splice_Site SNP T T C TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 19 41105464 41105464 T C SNP LTBP4 ENST00000308370 human ensembl 70_37 +1 known splice_site c.341+2 e3+2 1.000 - - - no_errors LTBP4 HGNC MAGEL2 54551 genome.wustl.edu 37 15 23890312 23890312 + Missense_Mutation SNP C C A TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 15 23890312 23890312 C A SNP MAGEL2 ENST00000532292 human ensembl 70_37 -1 known missense c.769 p.A257S 0.577 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEL2 HGNC MCF2L2 23101 genome.wustl.edu 37 3 183145719 183145719 + Missense_Mutation SNP C C G TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 3 183145719 183145719 C G SNP MCF2L2 ENST00000328913 human ensembl 70_37 -1 known missense c.47 p.R16P 1.000 pfscan_CRAL-TRIO_dom pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors MCF2L2 HGNC METAP1D 254042 genome.wustl.edu 37 2 172943971 172943971 + Missense_Mutation SNP G G T TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 2 172943971 172943971 G T SNP METAP1D ENST00000315796 human ensembl 70_37 +1 known missense c.831 p.E277D 1.000 pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain,prints_Pept_M24_MAP,tigrfam_Pept_M24A_MAP1 pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain,prints_Pept_M24_MAP,tigrfam_Pept_M24A_MAP1 - no_errors METAP1D HGNC MMP15 4324 genome.wustl.edu 37 16 58072243 58072243 + Missense_Mutation SNP C C T TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 16 58072243 58072243 C T SNP MMP15 ENST00000219271 human ensembl 70_37 +1 known missense c.385 p.R129W 0.999 pirsf_Pept_M10A_matrix_strom pfam_Hemopexin/matrixin_repeat,pfam_Pept_M10_metallopeptidase,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin - no_errors MMP15 HGNC MT-CO1 4512 genome.wustl.edu 37 MT 6513 6513 + Missense_Mutation SNP G G A TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 MT 6513 6513 G A SNP MT-CO1 ENST00000361624 human ensembl 70_37 +1 known missense c.610 p.A204T NULL pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom 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 OR4N2 390429 genome.wustl.edu 37 14 20295947 20295947 + Missense_Mutation SNP C C A TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 14 20295947 20295947 C A SNP OR4N2 ENST00000315947 human ensembl 70_37 +1 known missense c.340 p.L114I 0.290 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4N2 HGNC OR5D13 390142 genome.wustl.edu 37 11 55540930 55540930 + Missense_Mutation SNP G G A TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 11 55540930 55540930 G A SNP OR5D13 ENST00000361760 human ensembl 70_37 +1 known missense c.17 p.R6K 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5D13 HGNC PCDHB10 56126 genome.wustl.edu 37 5 140573047 140573047 + Missense_Mutation SNP G G C TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 5 140573047 140573047 G C SNP PCDHB10 ENST00000239446 human ensembl 70_37 +1 known missense c.922 p.D308H 0.996 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB10 HGNC PFDN5 5204 genome.wustl.edu 37 12 53689722 53689722 + Missense_Mutation SNP G G A TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 12 53689722 53689722 G A SNP PFDN5 ENST00000551018 human ensembl 70_37 +1 known missense c.172 p.E58K 1.000 pfam_Prefoldin_subunit,superfamily_Prefoldin,tigrfam_PFD_alpha pfam_Prefoldin_subunit,superfamily_Prefoldin,tigrfam_PFD_alpha - no_errors PFDN5 HGNC PIK3CA 5290 genome.wustl.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 3 178936091 178936091 G A SNP PIK3CA ENST00000263967 human ensembl 70_37 +1 known missense c.1633 p.E545K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_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 PLIN3 10226 genome.wustl.edu 37 19 4844784 4844784 + Missense_Mutation SNP C C T TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 19 4844784 4844784 C T SNP PLIN3 ENST00000221957 human ensembl 70_37 -1 known missense c.856 p.V286I 0.004 pfam_Perilipin,pirsf_Perilipin pfam_Perilipin,pirsf_Perilipin - no_errors PLIN3 HGNC PM20D2 135293 genome.wustl.edu 37 6 89871595 89871596 + Frame_Shift_Ins INS - - TACT TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 6 89871595 89871596 - TACT INS PM20D2 ENST00000275072 human ensembl 70_37 +1 known frame_shift_ins c.1142_1143 p.E383fs 1.000:0.993 pirsf_Pept_M20D_amidohydro_pred pfam_Peptidase_M20_dimer,pfam_Peptidase_M20,superfamily_Peptidase_M20_dimer,pirsf_Pept_M20D_amidohydro_pred - no_errors PM20D2 HGNC PNISR 25957 genome.wustl.edu 37 6 99849006 99849006 + Missense_Mutation SNP G G A TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 6 99849006 99849006 G A SNP PNISR ENST00000369239 human ensembl 70_37 -1 known missense c.1828 p.R610W 1.000 NULL NULL - no_errors PNISR HGNC POLD1 5424 genome.wustl.edu 37 19 50905324 50905324 + Missense_Mutation SNP G G T TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 19 50905324 50905324 G T SNP POLD1 ENST00000440232 human ensembl 70_37 +1 known missense c.532 p.G178W 0.061 pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B,tigrfam_DNA-dir_DNA_pol_B_pol2 - no_errors POLD1 HGNC POTEE 445582 genome.wustl.edu 37 2 132021997 132021997 + Missense_Mutation SNP G G A TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 2 132021997 132021997 G A SNP POTEE ENST00000356920 human ensembl 70_37 +1 known missense c.2969 p.R990H 1.000 pfam_Actin-like,smart_Actin-like pfam_Actin-like,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-like - no_errors POTEE Uniprot_genename PTPN22 26191 genome.wustl.edu 37 1 114401660 114401660 + Silent SNP A A G TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 1 114401660 114401660 A G SNP PTPN22 ENST00000359785 human ensembl 70_37 -1 known silent c.237 p.D79 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pirsf_Non-rcpt_Tyr_Pase_8/22,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Non-rcpt_Tyr_Pase_8/22,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN22 HGNC RASGRP2 10235 genome.wustl.edu 37 11 64509578 64509578 + Missense_Mutation SNP G G A TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 11 64509578 64509578 G A SNP RASGRP2 ENST00000377494 human ensembl 70_37 -1 known missense c.80 p.S27F 0.986 pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_EF_hand_Ca-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_EF_HAND_2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGRP2 HGNC RPL8 6132 genome.wustl.edu 37 8 146016665 146016665 + Missense_Mutation SNP C C A TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 8 146016665 146016665 C A SNP RPL8 ENST00000262584 human ensembl 70_37 -1 known missense c.496 p.V166F 1.000 pfam_Ribosomal_L2_C,superfamily_Translation_prot_SH3-like,pirsf_Ribosomal_L2 pfam_Ribosomal_L2_C,pfam_Rbsml_prot_L2_RNA-bd_dom,superfamily_Translation_prot_SH3-like,superfamily_NA-bd_OB-fold-like,pirsf_Ribosomal_L2 - no_errors RPL8 HGNC RTL1 388015 genome.wustl.edu 37 14 101348185 101348185 + Missense_Mutation SNP C C T TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 14 101348185 101348185 C T SNP RTL1 ENST00000534062 human ensembl 70_37 -1 known missense c.2941 p.V981I 0.414 NULL pfam_Retrotrans_gag,superfamily_Peptidase_aspartic - no_errors RTL1 HGNC RTTN 25914 genome.wustl.edu 37 18 67727191 67727191 + Missense_Mutation SNP G G A TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 18 67727191 67727191 G A SNP RTTN ENST00000255674 human ensembl 70_37 -1 known missense c.4835 p.S1612F 0.650 NULL superfamily_ARM-type_fold - no_errors RTTN HGNC SERPINH1 871 genome.wustl.edu 37 11 75278009 75278009 + Silent SNP C C T TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 11 75278009 75278009 C T SNP SERPINH1 ENST00000358171 human ensembl 70_37 +1 known silent c.615 p.F205 1.000 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINH1 HGNC SIRPA 140885 genome.wustl.edu 37 20 1896052 1896052 + Silent SNP C C T TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 20 1896052 1896052 C T SNP SIRPA ENST00000400068 human ensembl 70_37 +1 known silent c.387 p.P129 0.000 pfam_Ig_V-set,smart_Ig_sub pfam_Ig_C1-set,pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_C1-set,pfscan_Ig-like - no_errors SIRPA HGNC SLC26A4 5172 genome.wustl.edu 37 7 107338524 107338524 + Missense_Mutation SNP G G T TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 7 107338524 107338524 G T SNP SLC26A4 ENST00000265715 human ensembl 70_37 +1 known missense c.1582 p.D528Y 1.000 tigrfam_SulP_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A4 HGNC SLCO5A1 81796 genome.wustl.edu 37 8 70744526 70744526 + Missense_Mutation SNP C C T TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 8 70744526 70744526 C T SNP SLCO5A1 ENST00000260126 human ensembl 70_37 -1 known missense c.383 p.R128H 1.000 pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO5A1 HGNC SMARCA1 6594 genome.wustl.edu 37 X 128582408 128582408 + Missense_Mutation SNP G G A TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 X 128582408 128582408 G A SNP SMARCA1 ENST00000371122 human ensembl 70_37 -1 known missense c.3043 p.R1015C 1.000 pfam_SLIDE,superfamily_Homeodomain-like,smart_SANT/Myb pfam_SNF2_N,pfam_SLIDE,pfam_ATPase_nucl-remodel_HAND-dom,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Homeodomain-like,superfamily_ATPase_nucl-remodel_HAND-dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_SANT/Myb,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SMARCA1 HGNC SMC1B 27127 genome.wustl.edu 37 22 45802378 45802378 + Missense_Mutation SNP G G A TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 22 45802378 45802378 G A SNP SMC1B ENST00000357450 human ensembl 70_37 -1 known missense c.578 p.A193V 1.000 pfam_RecF/RecN/SMC pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,superfamily_t-SNARE,smart_SMC_hinge - no_errors SMC1B HGNC SMCHD1 23347 genome.wustl.edu 37 18 2656258 2656258 + Nonsense_Mutation SNP C C T TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 18 2656258 2656258 C T SNP SMCHD1 ENST00000320876 human ensembl 70_37 +1 known nonsense c.184 p.Q62* 1.000 NULL pfam_SMC_hinge,superfamily_SMC_hinge,superfamily_ATPase-like_ATP-bd,smart_SMC_hinge - no_errors SMCHD1 HGNC SNAI3 333929 genome.wustl.edu 37 16 88744885 88744885 + Missense_Mutation SNP C C T TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 16 88744885 88744885 C T SNP SNAI3 ENST00000332281 human ensembl 70_37 -1 known missense c.850 p.E284K 0.514 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SNAI3 HGNC SOX6 55553 genome.wustl.edu 37 11 16760010 16760010 + RNA SNP G G A TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 11 16760010 16760010 G A SNP SOX6 ENST00000524520 human ensembl 70_37 -1 known rna NULL NULL 0.007 - - - no_errors SOX6 HGNC TBC1D30 23329 genome.wustl.edu 37 12 65264530 65264530 + Silent SNP G G A TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 12 65264530 65264530 G A SNP TBC1D30 ENST00000229088 human ensembl 70_37 +1 known silent c.1929 p.Q643 0.991 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D30 HGNC THSD7B 80731 genome.wustl.edu 37 2 137814044 137814044 + Missense_Mutation SNP C C A TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 2 137814044 137814044 C A SNP THSD7B ENST00000272643 human ensembl 70_37 +1 known missense c.194 p.A65E 0.046 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7B HGNC TLX3 30012 genome.wustl.edu 37 5 170738602 170738602 + Nonstop_Mutation SNP G G C TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 5 170738602 170738602 G C SNP TLX3 ENST00000296921 human ensembl 70_37 +1 known nonstop c.875 p.*292S 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors TLX3 HGNC TMPRSS11D 9407 genome.wustl.edu 37 4 68692991 68692991 + Nonsense_Mutation SNP G G A TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 4 68692991 68692991 G A SNP TMPRSS11D ENST00000283916 human ensembl 70_37 -1 known nonsense c.940 p.Q314* 0.000 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pirsf_Pept_S1A_HAT/DESC1,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,pfam_SEA,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_SEA,smart_Peptidase_S1_S6,pirsf_Pept_S1A_HAT/DESC1,pfscan_SEA,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors TMPRSS11D HGNC TOMM7 54543 genome.wustl.edu 37 7 22857031 22857031 + Frame_Shift_Del DEL T T - TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 7 22857031 22857031 T - DEL TOMM7 ENST00000372879 human ensembl 70_37 -1 putative frame_shift_del c.289 p.T97fs 0.100 NULL pfam_Tom7 - no_errors TOMM7 HGNC TRAF3IP2 10758 genome.wustl.edu 37 6 111913050 111913050 + Silent SNP G G C TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 6 111913050 111913050 G C SNP TRAF3IP2 ENST00000340026 human ensembl 70_37 -1 known silent c.267 p.V89 0.991 NULL pfam_SEFIR - no_errors TRAF3IP2 HGNC TRANK1 9881 genome.wustl.edu 37 3 36872496 36872496 + Missense_Mutation SNP C C T TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 3 36872496 36872496 C T SNP TRANK1 ENST00000429976 human ensembl 70_37 -1 known missense c.8446 p.E2816K 0.198 NULL pfam_UvrD-like_ATP-bd,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom - no_errors TRANK1 HGNC TRIM10 10107 genome.wustl.edu 37 6 30128238 30128238 + Missense_Mutation SNP C C T TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 6 30128238 30128238 C T SNP TRIM10 ENST00000449742 human ensembl 70_37 -1 known missense c.398 p.R133H 0.001 smart_Znf_B-box,pfscan_Znf_B-box pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM10 HGNC TTR 7276 genome.wustl.edu 37 18 29175194 29175194 + Silent SNP C C T TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 18 29175194 29175194 C T SNP TTR ENST00000237014 human ensembl 70_37 +1 known silent c.312 p.I104 0.624 pfam_Transthyretin/HIU_hydrolase_SF,superfamily_Transthyretin/HIU_hydrolase_SF,smart_Transthyretin/HIU_hydrolase_SF,prints_Transthyretin/HIU_hydrolase pfam_Transthyretin/HIU_hydrolase_SF,superfamily_Transthyretin/HIU_hydrolase_SF,smart_Transthyretin/HIU_hydrolase_SF,prints_Transthyretin/HIU_hydrolase - no_errors TTR HGNC UBE2B 7320 genome.wustl.edu 37 5 133707248 133707248 + RNA DEL T T - TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 5 133707248 133707248 T - DEL UBE2B ENST00000511807 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors UBE2B HGNC USP34 9736 genome.wustl.edu 37 2 61505365 61505365 + Missense_Mutation SNP G G T TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 2 61505365 61505365 G T SNP USP34 ENST00000398571 human ensembl 70_37 -1 known missense c.5368 p.L1790I 1.000 NULL pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19 - no_errors USP34 HGNC WNK1 65125 genome.wustl.edu 37 12 977110 977110 + Missense_Mutation SNP C C T TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 12 977110 977110 C T SNP WNK1 ENST00000530271 human ensembl 70_37 +1 known missense c.2473 p.R825C 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors WNK1 HGNC ZBTB16 7704 genome.wustl.edu 37 11 114113003 114113003 + Missense_Mutation SNP G G C TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 11 114113003 114113003 G C SNP ZBTB16 ENST00000335953 human ensembl 70_37 +1 known missense c.1568 p.C523S 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB16 HGNC ZBTB20 26137 genome.wustl.edu 37 3 114069161 114069161 + Silent SNP G G A TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 3 114069161 114069161 G A SNP ZBTB20 ENST00000474710 human ensembl 70_37 -1 known silent c.1764 p.T588 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB20 HGNC ZFR2 23217 genome.wustl.edu 37 19 3827625 3827625 + Silent SNP C C T TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 19 3827625 3827625 C T SNP ZFR2 ENST00000262961 human ensembl 70_37 -1 known silent c.879 p.Q293 1.000 smart_Znf_U1,smart_Znf_C2H2-like pfam_DZF,smart_Znf_U1,smart_Znf_C2H2-like,smart_DZF - no_errors ZFR2 HGNC ZNF311 282890 genome.wustl.edu 37 6 28971356 28971356 + Missense_Mutation SNP C C T TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 6 28971356 28971356 C T SNP ZNF311 ENST00000377179 human ensembl 70_37 -1 known missense c.25 p.E9K 0.003 NULL 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 ZNF311 HGNC ZNF720 124411 genome.wustl.edu 37 16 31766154 31766154 + Nonsense_Mutation SNP C C G TCGA-FU-A3WB-01A-11D-A22X-09 TCGA-FU-A3WB-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 08d5bef0-b055-4479-b56c-cd716d6b6a95 b096c6ae-e4ed-41a0-a02f-1a1913ef0f31 16 31766154 31766154 C G SNP ZNF720 ENST00000399681 human ensembl 70_37 +1 known nonsense c.542 p.S181* 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF720 HGNC