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 title header normal_ref_reads normal_var_reads normal_VAF tumor_ref_reads tumor_var_reads tumor_VAF ABCA10 0 genome.wustl.edu 37 17 67148533 67148533 + Missense_Mutation SNP C C A TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 17 67148533 67148533 C A SNP ABCA10 ENST00000269081 human ensembl 74_37 -1 known missense c.4226 p.R1409L 0.994 superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA10 HGNC ENSG00000154263 tier1 - - 34 0 0.00 37 9 19.57 ABCA5 0 genome.wustl.edu 37 17 67257373 67257373 + Frame_Shift_Del DEL C C - TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 17 67257373 67257373 C - DEL ABCA5 ENST00000392677 human ensembl 74_37 -1 known frame_shift_del c.3460 p.E1154fs 0.998 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA5 HGNC ENSG00000154265 tier1 31 0 0.00 34 2 5.56 ABCC2 0 genome.wustl.edu 37 10 101606754 101606754 + Missense_Mutation SNP C C T TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 10 101606754 101606754 C T SNP ABCC2 ENST00000370449 human ensembl 74_37 +1 known missense c.4183 p.L1395F 1.000 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Multidrug-R_assoc pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc - no_errors ABCC2 HGNC ENSG00000023839 tier1 - - 264 0 0.00 182 83 31.20 ADAD2 0 genome.wustl.edu 37 16 84229769 84229769 + Missense_Mutation SNP C C T TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 16 84229769 84229769 C T SNP ADAD2 ENST00000268624 human ensembl 74_37 +1 known missense c.1565 p.A522V 1.000 pfam_A_deamin,smart_A_deamin,pfscan_A_deamin pfam_A_deamin,pfam_dsRNA-bd_dom,smart_A_deamin,pfscan_dsRNA-bd_dom,pfscan_A_deamin - no_errors ADAD2 HGNC ENSG00000140955 tier1 - - 102 0 0.00 81 33 28.95 ADAMTS5 0 genome.wustl.edu 37 21 28296837 28296837 + Silent SNP G G A TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 21 28296837 28296837 G A SNP ADAMTS5 ENST00000284987 human ensembl 74_37 -1 known silent c.2328 p.A776 1.000 pfam_ADAM_spacer1 pfam_ADAM_spacer1,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS5,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS5 HGNC ENSG00000154736 tier1 - - 132 0 0.00 90 34 27.42 ADAMTS5 0 genome.wustl.edu 37 21 28307005 28307005 + Missense_Mutation SNP G G A TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 21 28307005 28307005 G A SNP ADAMTS5 ENST00000284987 human ensembl 74_37 -1 known missense c.1469 p.T490I 0.998 smart_ADAM_Cys-rich pfam_ADAM_spacer1,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS5,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS5 HGNC ENSG00000154736 tier1 - - 42 0 0.00 32 8 20.00 ADAMTS7 0 genome.wustl.edu 37 15 79066976 79066976 + Silent SNP C C T TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 15 79066976 79066976 C T SNP ADAMTS7 ENST00000388820 human ensembl 74_37 -1 known silent c.1866 p.V622 0.966 NULL pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS7 HGNC ENSG00000136378 48 0 0.00 56 5 8.20 ADAMTS9 0 genome.wustl.edu 37 3 64672284 64672284 + Missense_Mutation SNP T T G TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 3 64672284 64672284 T G SNP ADAMTS9 ENST00000498707 human ensembl 74_37 -1 known missense c.476 p.N159T 0.909 pfam_Peptidase_M12B_N pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS9 HGNC ENSG00000163638 tier1 - - 18 0 0.00 19 14 42.42 AMY1A 0 genome.wustl.edu 37 1 104203270 104203270 + Missense_Mutation SNP G G A TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 1 104203270 104203270 G A SNP AMY1A ENST00000370083 human ensembl 74_37 +1 known missense c.1073 p.R358H 0.989 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 AMY1A HGNC ENSG00000237763 tier1 - - 72 0 0.00 61 10 14.08 ANKRD44 0 genome.wustl.edu 37 2 197964556 197964556 + Missense_Mutation SNP C C G TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 2 197964556 197964556 C G SNP ANKRD44 ENST00000328737 human ensembl 74_37 -1 known missense c.1009 p.G337R 0.992 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD44 HGNC ENSG00000065413 tier1 - - 63 0 0.00 54 19 26.03 AQP12A 0 genome.wustl.edu 37 2 241631376 241631376 + Missense_Mutation SNP G G A TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 2 241631376 241631376 G A SNP AQP12A ENST00000429564 human ensembl 74_37 +1 known missense c.46 p.A16T 0.628 pirsf_Aquaporin_11/12 pfam_MIP,superfamily_Aquaporin-like,pirsf_Aquaporin_11/12,prints_Aquaporin_12,prints_MIP - no_errors AQP12A HGNC ENSG00000184945 tier1 - - 60 0 0.00 46 14 23.33 ARHGAP33 0 genome.wustl.edu 37 19 36268752 36268752 + Missense_Mutation SNP C C T TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 19 36268752 36268752 C T SNP ARHGAP33 ENST00000007510 human ensembl 74_37 +1 known missense c.131 p.P44L 1.000 NULL pfam_RhoGAP_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Phox,smart_SH3_domain,smart_RhoGAP_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors ARHGAP33 HGNC ENSG00000004777 tier1 - - 90 0 0.00 94 14 12.96 ASAP3 0 genome.wustl.edu 37 1 23762514 23762514 + Missense_Mutation SNP G G A TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 1 23762514 23762514 G A SNP ASAP3 ENST00000336689 human ensembl 74_37 -1 known missense c.1579 p.R527C 0.991 pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP - no_errors ASAP3 HGNC ENSG00000088280 tier1 - - 58 0 0.00 40 27 40.30 ASTN1 0 genome.wustl.edu 37 1 177133566 177133566 + Missense_Mutation SNP C C A TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 1 177133566 177133566 C A SNP ASTN1 ENST00000367654 human ensembl 74_37 -1 known missense c.247 p.D83Y 1.000 NULL superfamily_Fibronectin_type3,smart_EG-like_dom,smart_MACPF,pfscan_Fibronectin_type3 - no_errors ASTN1 HGNC ENSG00000152092 tier1 - - 13 0 0.00 11 7 38.89 ASXL2 0 genome.wustl.edu 37 2 25967340 25967340 + Silent SNP C C T TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 2 25967340 25967340 C T SNP ASXL2 ENST00000435504 human ensembl 74_37 -1 known silent c.1866 p.P622 0.853 NULL superfamily_Znf_FYVE_PHD - no_errors ASXL2 HGNC ENSG00000143970 tier1 - - 42 0 0.00 35 15 30.00 BAIAP3 0 genome.wustl.edu 37 16 1391375 1391375 + Missense_Mutation SNP C C T TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 16 1391375 1391375 C T SNP BAIAP3 ENST00000324385 human ensembl 74_37 +1 known missense c.721 p.R241C 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,pfam_Munc13_subgr_dom-2,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors BAIAP3 HGNC ENSG00000007516 tier1 rs148280808 - 51 0 0.00 22 23 51.11 BCLAF1 0 genome.wustl.edu 37 6 136599315 136599315 + Missense_Mutation SNP G G A TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 6 136599315 136599315 G A SNP BCLAF1 ENST00000531224 human ensembl 74_37 -1 known missense c.704 p.P235L 1.000 NULL NULL - no_errors BCLAF1 HGNC ENSG00000029363 tier1 - - 108 0 0.00 118 16 11.94 C1orf210 0 genome.wustl.edu 37 1 43748769 43748769 + Missense_Mutation SNP C C T TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 1 43748769 43748769 C T SNP C1orf210 ENST00000423420 human ensembl 74_37 -1 known missense c.29 p.G10E 0.011 NULL NULL - no_errors C1orf210 HGNC ENSG00000253313 tier1 - - 10 0 0.00 17 7 29.17 C3orf30 0 genome.wustl.edu 37 3 118865554 118865554 + Missense_Mutation SNP G G T TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 3 118865554 118865554 G T SNP C3orf30 ENST00000295622 human ensembl 74_37 +1 known missense c.518 p.R173I 0.969 NULL superfamily_cAMP_dep_PK_reg_su_I/II_a/b - no_errors C3orf30 HGNC ENSG00000163424 tier1 - - 52 0 0.00 51 5 8.93 C8orf46 0 genome.wustl.edu 37 8 67405821 67405821 + RNA SNP G G A TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 8 67405821 67405821 G A SNP C8orf46 ENST00000521813 human ensembl 74_37 +1 putative rna NULL NULL 0.938 - - - no_errors C8orf46 HGNC ENSG00000169085 tier1 - - 24 0 0.00 19 8 29.63 CA10 0 genome.wustl.edu 37 17 49713333 49713333 + Missense_Mutation SNP T T G TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 17 49713333 49713333 T G SNP CA10 ENST00000340813 human ensembl 74_37 -1 known missense c.690 p.E230D 0.734 pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a - no_errors CA10 HGNC ENSG00000154975 tier1 - - 59 0 0.00 43 15 25.86 CASKIN1 0 genome.wustl.edu 37 16 2235379 2235379 + Missense_Mutation SNP G G A TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 16 2235379 2235379 G A SNP CASKIN1 ENST00000343516 human ensembl 74_37 -1 known missense c.1079 p.P360L 0.118 superfamily_SH3_domain pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_SH3_domain,prints_Ankyrin_rpt - no_errors CASKIN1 HGNC ENSG00000167971 tier1 - - 39 0 0.00 36 14 28.00 CCKBR 0 genome.wustl.edu 37 11 6290998 6290998 + Missense_Mutation SNP G G A TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 11 6290998 6290998 G A SNP CCKBR ENST00000525462 human ensembl 74_37 +1 known missense c.251 p.R84H 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Gastrin_rcpt,prints_Cholcskin_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors CCKBR HGNC ENSG00000110148 tier1 rs145658504 - 77 0 0.00 68 28 29.17 CD163 0 genome.wustl.edu 37 12 7640502 7640502 + Silent SNP T T G TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 12 7640502 7640502 T G SNP CD163 ENST00000359156 human ensembl 74_37 -1 known silent c.1602 p.G534 0.990 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_SRCR,pfscan_SRCR - no_errors CD163 HGNC ENSG00000177575 tier1 - - 53 0 0.00 36 13 26.53 CDH2 0 genome.wustl.edu 37 18 25565720 25565720 + Missense_Mutation SNP G G A TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 18 25565720 25565720 G A SNP CDH2 ENST00000269141 human ensembl 74_37 -1 known missense c.1747 p.P583S 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin - no_errors CDH2 HGNC ENSG00000170558 tier1 - - 54 0 0.00 32 15 31.91 CHRNB4 0 genome.wustl.edu 37 15 78922233 78922233 + Silent SNP G G A TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 15 78922233 78922233 G A SNP CHRNB4 ENST00000261751 human ensembl 74_37 -1 known silent c.414 p.N138 0.068 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNB4 HGNC ENSG00000117971 tier1 rs55851389 - 37 0 0.00 29 7 19.44 CNTNAP2 0 genome.wustl.edu 37 7 147964124 147964124 + Splice_Site SNP G G T TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 7 147964124 147964124 G T SNP CNTNAP2 ENST00000361727 human ensembl 74_37 +1 known splice_site c.3382-1 e21-1 1.000 - - - no_errors CNTNAP2 HGNC ENSG00000174469 tier1 - - 47 0 0.00 41 11 21.15 COL1A1 0 genome.wustl.edu 37 17 48271380 48271380 + Missense_Mutation SNP C C T TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 17 48271380 48271380 C T SNP COL1A1 ENST00000225964 human ensembl 74_37 -1 known missense c.1691 p.R564H 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL1A1 HGNC ENSG00000108821 tier1 rs1800211 - 58 0 0.00 36 9 20.00 COL6A6 0 genome.wustl.edu 37 3 130290055 130290055 + Missense_Mutation SNP C C T TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 3 130290055 130290055 C T SNP COL6A6 ENST00000358511 human ensembl 74_37 +1 known missense c.2795 p.T932M 0.017 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A6 HGNC ENSG00000206384 tier1 - - 41 0 0.00 27 16 37.21 COPG1 0 genome.wustl.edu 37 3 128991108 128991108 + Missense_Mutation SNP A A G TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 3 128991108 128991108 A G SNP COPG1 ENST00000314797 human ensembl 74_37 +1 known missense c.2008 p.N670D 1.000 pfam_Coatomer_gsu_app_Ig-like-sub,superfamily_Coatomer/clathrin_app_Ig-like,pirsf_Coatomer_gsu pfam_Clathrin/coatomer_adapt-like_N,pfam_Coatomer_gsu_app_Ig-like-sub,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,superfamily_Coatomer/calthrin_app_sub_C,pirsf_Coatomer_gsu - no_errors COPG1 HGNC ENSG00000181789 tier1 - - 68 0 0.00 50 31 38.27 CORO1B 0 genome.wustl.edu 37 11 67206240 67206240 + Missense_Mutation SNP G G A TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 11 67206240 67206240 G A SNP CORO1B ENST00000341356 human ensembl 74_37 -1 known missense c.1246 p.R416W 1.000 NULL pfam_DUF1900,pfam_DUF1899,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CORO1B HGNC ENSG00000172725 tier1 - - 10 0 0.00 8 6 40.00 CRYBG3 0 genome.wustl.edu 37 3 97596564 97596564 + Frame_Shift_Del DEL C C - TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 3 97596564 97596564 C - DEL CRYBG3 ENST00000182096 human ensembl 74_37 +1 known frame_shift_del c.682 p.P228fs 0.004 NULL pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYBG3 HGNC ENSG00000080200 tier1 36 0 0.00 22 4 15.38 CTNND2 0 genome.wustl.edu 37 5 11098707 11098707 + Silent SNP A A G TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 5 11098707 11098707 A G SNP CTNND2 ENST00000304623 human ensembl 74_37 -1 known silent c.2617 p.L873 1.000 pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors CTNND2 HGNC ENSG00000169862 tier1 - - 38 0 0.00 44 9 16.98 CYFIP2 0 genome.wustl.edu 37 5 156738736 156738736 + Missense_Mutation SNP C C T TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 5 156738736 156738736 C T SNP CYFIP2 ENST00000318218 human ensembl 74_37 +1 known missense c.1057 p.R353W 1.000 pirsf_Cytoplasmic_FMR1-int_sub pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int - no_errors CYFIP2 HGNC ENSG00000055163 tier1 - - 14 0 0.00 7 4 36.36 CYP2E1 0 genome.wustl.edu 37 10 135350653 135350653 + Missense_Mutation SNP G G T TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 10 135350653 135350653 G T SNP CYP2E1 ENST00000252945 human ensembl 74_37 +1 known missense c.1054 p.A352S 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2E-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP2E1 HGNC ENSG00000130649 tier1 - - 34 0 0.00 18 12 40.00 CYP4F8 0 genome.wustl.edu 37 19 15739641 15739641 + RNA SNP C C A TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 19 15739641 15739641 C A SNP CYP4F8 ENST00000325723 human ensembl 74_37 +1 known rna NULL NULL 0.995 - - - no_errors CYP4F8 HGNC ENSG00000186526 tier1 - - 60 0 0.00 38 12 24.00 DCHS2 0 genome.wustl.edu 37 4 155155850 155155850 + Silent SNP A A C TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 4 155155850 155155850 A C SNP DCHS2 ENST00000357232 human ensembl 74_37 -1 known silent c.8589 p.G2863 0.000 NULL pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS2 HGNC ENSG00000197410 tier1 - - 100 0 0.00 112 6 5.08 DNAH8 0 genome.wustl.edu 37 6 38702362 38702362 + Silent SNP C C T TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 6 38702362 38702362 C T SNP DNAH8 ENST00000359357 human ensembl 74_37 +1 known silent c.72 p.C24 0.411 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH8 HGNC ENSG00000124721 tier1 - - 67 0 0.00 46 45 49.45 DPY19L2P1 0 genome.wustl.edu 37 7 35131391 35131391 + RNA SNP A A T TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 7 35131391 35131391 A T SNP DPY19L2P1 ENST00000436258 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors DPY19L2P1 HGNC ENSG00000189212 tier1 - - 26 0 0.00 14 10 41.67 DSPP 0 genome.wustl.edu 37 4 88533736 88533736 + Missense_Mutation SNP C C T TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 4 88533736 88533736 C T SNP DSPP ENST00000282478 human ensembl 74_37 +1 known missense c.398 p.A133V 0.349 NULL NULL - no_errors DSPP HGNC ENSG00000152591 tier1 - - 34 0 0.00 41 8 16.33 ENSG00000226605 0 genome.wustl.edu 37 2 63053198 63053199 + RNA INS - - T TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 2 63053198 63053199 - T INS ENSG00000226605 ENST00000452397 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.047 - - - no_errors AC007098.1 Clone_based_vega_gene ENSG00000226605 tier1 36 0 0.00 36 2 5.26 FBXL4 0 genome.wustl.edu 37 6 99374606 99374606 + Missense_Mutation SNP T T G TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 6 99374606 99374606 T G SNP FBXL4 ENST00000229971 human ensembl 74_37 -1 known missense c.259 p.S87R 1.000 NULL pfam_F-box_dom,superfamily_F-box_dom,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom - no_errors FBXL4 HGNC ENSG00000112234 tier1 - - 70 0 0.00 43 25 36.76 FBXO7 0 genome.wustl.edu 37 22 32894446 32894446 + Missense_Mutation SNP G G A TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 22 32894446 32894446 G A SNP FBXO7 ENST00000266087 human ensembl 74_37 +1 known missense c.1498 p.G500S 0.997 NULL pfam_FP_dom,pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom - no_errors FBXO7 HGNC ENSG00000100225 tier1 rs113341800 - 51 0 0.00 47 25 34.72 FHDC1 0 genome.wustl.edu 37 4 153897565 153897567 + In_Frame_Del DEL CCT CCT - TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 CCT CCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 4 153897565 153897567 CCT - DEL FHDC1 ENST00000260008 human ensembl 74_37 +1 known in_frame_del c.3122_3124 p.S1044in_frame_del 1.000:1.000:1.000 NULL pfam_FH2_Formin,smart_FH2_Formin - no_errors FHDC1 HGNC ENSG00000137460 tier1 52 0 0.00 60 14 18.92 FOXF2 0 genome.wustl.edu 37 6 1390809 1390809 + Silent SNP C C T TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 6 1390809 1390809 C T SNP FOXF2 ENST00000259806 human ensembl 74_37 +1 known silent c.627 p.R209 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXF2 HGNC ENSG00000137273 tier1 - - 30 0 0.00 23 11 32.35 FUT1 0 genome.wustl.edu 37 19 49254119 49254119 + Silent SNP C C T TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 19 49254119 49254119 C T SNP FUT1 ENST00000310160 human ensembl 74_37 -1 known silent c.420 p.P140 0.000 pfam_Glyco_trans_11 pfam_Glyco_trans_11 - no_errors FUT1 HGNC ENSG00000174951 tier1 - - 105 0 0.00 43 35 44.87 GJA3 0 genome.wustl.edu 37 13 20717262 20717262 + Missense_Mutation SNP T T G TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 13 20717262 20717262 T G SNP GJA3 ENST00000241125 human ensembl 74_37 -1 known missense c.166 p.T56P 1.000 pfam_Connexin_N,smart_Connexin_N,prints_Connexin pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin46 - no_errors GJA3 HGNC ENSG00000121743 tier1 - - 12 0 0.00 14 7 33.33 GOLGB1 0 genome.wustl.edu 37 3 121414893 121414893 + Missense_Mutation SNP C C T TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 3 121414893 121414893 C T SNP GOLGB1 ENST00000340645 human ensembl 74_37 -1 known missense c.4462 p.A1488T 1.000 superfamily_Prefoldin superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo - no_errors GOLGB1 HGNC ENSG00000173230 tier1 - - 177 0 0.00 155 51 24.52 GPATCH8 0 genome.wustl.edu 37 17 42478329 42478329 + Silent SNP T T C TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 17 42478329 42478329 T C SNP GPATCH8 ENST00000591680 human ensembl 74_37 -1 known silent c.1116 p.S372 0.970 NULL pfam_G_patch_dom,pfam_Znf_C2H2_jaz,smart_G_patch_dom,pfscan_Znf_C2H2,pfscan_G_patch_dom - no_errors GPATCH8 HGNC ENSG00000186566 tier1 - - 94 0 0.00 87 8 8.42 GPR116 0 genome.wustl.edu 37 6 46826770 46826770 + Missense_Mutation SNP C C A TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 6 46826770 46826770 C A SNP GPR116 ENST00000265417 human ensembl 74_37 -1 known missense c.2870 p.W957L 1.000 pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom pfam_GPCR_2_secretin-like,pfam_SEA_dom,pfam_GPS_dom,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,pfscan_Ig-like_dom,prints_GPCR_2_Ig-hepta_rcpt,prints_GPCR_2_secretin-like - no_errors GPR116 HGNC ENSG00000069122 tier1 - - 64 0 0.00 110 20 15.38 GPR156 0 genome.wustl.edu 37 3 119886705 119886705 + Missense_Mutation SNP C C T TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 3 119886705 119886705 C T SNP GPR156 ENST00000315843 human ensembl 74_37 -1 known missense c.1619 p.R540Q 0.000 NULL pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3_GABA_rcpt_B - no_errors GPR156 HGNC ENSG00000175697 tier1 - - 172 0 0.00 138 42 23.33 GPRC6A 0 genome.wustl.edu 37 6 117121765 117121766 + Frame_Shift_Ins INS - - T TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 6 117121765 117121766 - T INS GPRC6A ENST00000310357 human ensembl 74_37 -1 known frame_shift_ins c.1530_1529 p.N510fs 0.904:0.979 NULL pfam_GPCR_3_C,pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_vmron_rcpt_2 - no_errors GPRC6A HGNC ENSG00000173612 tier1 44 0 0.00 43 16 27.12 GRK4 0 genome.wustl.edu 37 4 3040280 3040280 + RNA DEL A A - TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 4 3040280 3040280 A - DEL GRK4 ENST00000504308 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors GRK4 HGNC ENSG00000125388 tier1 50 0 0.00 39 3 7.14 GRXCR1 0 genome.wustl.edu 37 4 42964973 42964973 + Missense_Mutation SNP G G A TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 4 42964973 42964973 G A SNP GRXCR1 ENST00000399770 human ensembl 74_37 +1 known missense c.449 p.R150Q 1.000 pfam_Glutaredoxin,superfamily_Thioredoxin-like_fold pfam_Glutaredoxin,superfamily_Thioredoxin-like_fold,superfamily_HSP_DnaJ_Cys-rich_dom - no_errors GRXCR1 HGNC ENSG00000215203 tier1 rs200231391 - 118 0 0.00 94 29 23.39 GSTA2 0 genome.wustl.edu 37 6 52622671 52622671 + Silent SNP T T A TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 6 52622671 52622671 T A SNP GSTA2 ENST00000493422 human ensembl 74_37 -1 known silent c.75 p.A25 0.999 pfam_Glutathione_S-Trfase_N,superfamily_Thioredoxin-like_fold,prints_GST_alpha pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_GST_alpha - no_errors GSTA2 HGNC ENSG00000244067 tier1 - - 80 0 0.00 56 85 60.28 H1F0 0 genome.wustl.edu 37 22 38201677 38201677 + Silent SNP C C T TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 22 38201677 38201677 C T SNP H1F0 ENST00000340857 human ensembl 74_37 +1 known silent c.126 p.R42 0.086 pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5 pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5 - no_errors H1F0 HGNC ENSG00000189060 tier1 - - 46 0 0.00 34 12 26.09 HEXDC 0 genome.wustl.edu 37 17 80391605 80391605 + Silent SNP C C T TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 17 80391605 80391605 C T SNP HEXDC ENST00000337014 human ensembl 74_37 +1 known silent c.354 p.H118 0.037 pfam_Glyco_hydro_20_cat-core,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_20_cat-core,superfamily_Glycoside_hydrolase_SF - no_errors HEXDC HGNC ENSG00000169660 tier1 - - 55 0 0.00 48 25 34.25 HLA-F 0 genome.wustl.edu 37 6 29693082 29693082 + Nonsense_Mutation SNP G G A TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 6 29693082 29693082 G A SNP HLA-F ENST00000259951 human ensembl 74_37 +1 known nonsense c.885 p.W295* 1.000 NULL pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a - no_errors HLA-F HGNC ENSG00000204642 tier1 - - 62 0 0.00 40 10 20.00 HOXD3 0 genome.wustl.edu 37 2 177034089 177034089 + Nonsense_Mutation SNP G G T TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 2 177034089 177034089 G T SNP HOXD3 ENST00000249440 human ensembl 74_37 +1 known nonsense c.247 p.G83* 0.946 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXD3 HGNC ENSG00000128652 tier1 - - 35 0 0.00 22 15 40.54 HTR1E 0 genome.wustl.edu 37 6 87725488 87725488 + Missense_Mutation SNP G G A TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 6 87725488 87725488 G A SNP HTR1E ENST00000305344 human ensembl 74_37 +1 known missense c.436 p.V146I 0.996 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT_rcpt - no_errors HTR1E HGNC ENSG00000168830 tier1 rs200719637 - 40 0 0.00 37 14 26.92 IL16 0 genome.wustl.edu 37 15 81592622 81592622 + Missense_Mutation SNP C C A TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 15 81592622 81592622 C A SNP IL16 ENST00000302987 human ensembl 74_37 +1 known missense c.2955 p.S985R 0.689 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,prints_IL-16 - no_errors IL16 HGNC ENSG00000172349 tier1 - - 36 0 0.00 30 16 34.78 INCENP 0 genome.wustl.edu 37 11 61916013 61916015 + In_Frame_Del DEL AGA AGA - TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 11 61916013 61916015 AGA - DEL INCENP ENST00000394818 human ensembl 74_37 +1 known in_frame_del c.2270_2272 p.K761in_frame_del 1.000:1.000:1.000 NULL pfam_INCENP_N,pfam_Inner_centromere_prot_ARK-bd - no_errors INCENP HGNC ENSG00000149503 tier1 11 0 0.00 2 2 50.00 IPO13 0 genome.wustl.edu 37 1 44422612 44422612 + Nonsense_Mutation SNP G G A TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 1 44422612 44422612 G A SNP IPO13 ENST00000372343 human ensembl 74_37 +1 known nonsense c.1235 p.W412* 1.000 superfamily_ARM-type_fold pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors IPO13 HGNC ENSG00000117408 tier1 - - 65 0 0.00 62 6 8.82 ITGA5 0 genome.wustl.edu 37 12 54799107 54799107 + Silent SNP G G A TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 12 54799107 54799107 G A SNP ITGA5 ENST00000293379 human ensembl 74_37 -1 known silent c.1068 p.D356 0.293 pfam_FG-GAP,smart_Int_alpha_beta-p pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA5 HGNC ENSG00000161638 tier1 - - 25 0 0.00 13 6 31.58 JAG1 0 genome.wustl.edu 37 20 10630906 10630906 + Missense_Mutation SNP G G A TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 20 10630906 10630906 G A SNP JAG1 ENST00000254958 human ensembl 74_37 -1 known missense c.1223 p.T408M 1.000 pfam_EG-like_dom,pfam_EGF_extracell,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,smart_DSL,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_VWC_out,smart_VWF_C,pfscan_DSL,pfscan_EG-like_dom - no_errors JAG1 HGNC ENSG00000101384 tier1 - - 35 0 0.00 38 17 30.91 KCNH5 0 genome.wustl.edu 37 14 63483614 63483614 + Missense_Mutation SNP A A T TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 14 63483614 63483614 A T SNP KCNH5 ENST00000322893 human ensembl 74_37 -1 known missense c.132 p.N44K 1.000 pfam_PAS_fold,superfamily_PAS,tigrfam_PAS pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_cNMP-bd_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH5 HGNC ENSG00000140015 tier1 - - 34 0 0.00 18 15 45.45 KCNJ2 0 genome.wustl.edu 37 17 68172179 68172179 + Missense_Mutation SNP G G T TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 17 68172179 68172179 G T SNP KCNJ2 ENST00000243457 human ensembl 74_37 +1 known missense c.999 p.E333D 1.000 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,pfam_K_chnl_inward-rec_Kir_N,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.1 - no_errors KCNJ2 HGNC ENSG00000123700 tier1 - - 56 0 0.00 37 26 41.27 KIF20A 0 genome.wustl.edu 37 5 137519793 137519793 + Missense_Mutation SNP C C T TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 5 137519793 137519793 C T SNP KIF20A ENST00000394894 human ensembl 74_37 +1 known missense c.1351 p.R451W 1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF20A HGNC ENSG00000112984 tier1 - - 98 0 0.00 69 23 25.00 KIF27 0 genome.wustl.edu 37 9 86518672 86518672 + Missense_Mutation SNP G G A TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 9 86518672 86518672 G A SNP KIF27 ENST00000297814 human ensembl 74_37 -1 known missense c.761 p.T254M 1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF27 HGNC ENSG00000165115 tier1 rs141363838 - 84 0 0.00 70 31 30.69 KLHL2 0 genome.wustl.edu 37 4 166226804 166226804 + Silent SNP T T C TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 4 166226804 166226804 T C SNP KLHL2 ENST00000226725 human ensembl 74_37 +1 known silent c.966 p.S322 0.998 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL2 HGNC ENSG00000109466 tier1 - - 82 0 0.00 68 24 26.09 KNTC1 0 genome.wustl.edu 37 12 123052875 123052875 + Missense_Mutation SNP G G A TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 12 123052875 123052875 G A SNP KNTC1 ENST00000333479 human ensembl 74_37 +1 known missense c.1672 p.E558K 1.000 NULL pfam_RZZ-complex_KNTC1/ROD_C,superfamily_Quino_amine_DH_bsu,superfamily_WD40_repeat_dom,superfamily_PAH - no_errors KNTC1 HGNC ENSG00000184445 tier1 - - 102 0 0.00 61 26 29.89 KRTAP13-1 0 genome.wustl.edu 37 21 31768495 31768495 + Missense_Mutation SNP C C A TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 21 31768495 31768495 C A SNP KRTAP13-1 ENST00000355459 human ensembl 74_37 +1 known missense c.91 p.P31T 0.003 pfam_KRTAP_PMG pfam_KRTAP_PMG - no_errors KRTAP13-1 HGNC ENSG00000198390 tier1 - - 71 0 0.00 46 12 20.69 LAMA3 0 genome.wustl.edu 37 18 21422449 21422449 + Missense_Mutation SNP G G A TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 18 21422449 21422449 G A SNP LAMA3 ENST00000313654 human ensembl 74_37 +1 known missense c.3427 p.A1143T 0.061 NULL pfam_EGF_laminin,pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Growth_fac_rcpt_N_dom,superfamily_Galactose-bd-like,superfamily_STAT_TF_coiled-coil,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 - no_errors LAMA3 HGNC ENSG00000053747 tier1 - - 102 0 0.00 104 8 7.14 LCE1B 0 genome.wustl.edu 37 1 152785023 152785023 + Missense_Mutation SNP C C A TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 1 152785023 152785023 C A SNP LCE1B ENST00000360090 human ensembl 74_37 +1 known missense c.101 p.P34H 0.980 NULL NULL - no_errors LCE1B HGNC ENSG00000196734 tier1 - - 95 0 0.00 69 23 24.73 LOC440040 0 genome.wustl.edu 37 11 49597796 49597796 + RNA SNP A A C TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 11 49597796 49597796 A C SNP LOC440040 ENST00000527477 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-707M1.1 Clone_based_vega_gene ENSG00000205035 tier1 - - 26 0 0.00 17 14 45.16 LPL 0 genome.wustl.edu 37 8 19805707 19805707 + Silent SNP C C T TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 8 19805707 19805707 C T SNP LPL ENST00000311322 human ensembl 74_37 +1 known silent c.105 p.I35 0.002 pirsf_Lipoprotein_lipase_LIPH,pfam_Lipase_N,tigrfam_Lipo_Lipase pirsf_Lipoprotein_lipase_LIPH,pfam_Lipase_N,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,prints_Lipo_Lipase,prints_Lipase,pfscan_PLAT/LH2_dom,tigrfam_Lipo_Lipase - no_errors LPL HGNC ENSG00000175445 tier1 rs145405273 - 76 0 0.00 51 29 36.25 LRP1B 0 genome.wustl.edu 37 2 141245197 141245197 + Missense_Mutation SNP T T C TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 2 141245197 141245197 T C SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.9232 p.S3078G 1.000 pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,smart_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 tier1 - - 88 0 0.00 46 16 25.81 LRRK2 0 genome.wustl.edu 37 12 40637449 40637449 + Missense_Mutation SNP A A C TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 12 40637449 40637449 A C SNP LRRK2 ENST00000298910 human ensembl 74_37 +1 known missense c.804 p.E268D 1.000 superfamily_ARM-type_fold pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,tigrfam_Small_GTP-bd_dom - no_errors LRRK2 HGNC ENSG00000188906 tier1 - - 72 0 0.00 40 16 28.57 LRRK2 0 genome.wustl.edu 37 12 40761476 40761476 + Missense_Mutation SNP T T C TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 12 40761476 40761476 T C SNP LRRK2 ENST00000298910 human ensembl 74_37 +1 known missense c.7493 p.I2498T 1.000 superfamily_WD40_repeat_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,tigrfam_Small_GTP-bd_dom - no_errors LRRK2 HGNC ENSG00000188906 tier1 - - 53 0 0.00 28 20 41.67 MAGEE1 0 genome.wustl.edu 37 X 75649509 75649509 + Missense_Mutation SNP G G A TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 X 75649509 75649509 G A SNP MAGEE1 ENST00000361470 human ensembl 74_37 +1 known missense c.1186 p.A396T 0.060 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEE1 HGNC ENSG00000198934 tier1 - - 9 0 0.00 1 4 80.00 MAGI1 0 genome.wustl.edu 37 3 65372850 65372851 + Frame_Shift_Del DEL TC TC - TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 TC TC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 3 65372850 65372851 TC - DEL MAGI1 ENST00000330909 human ensembl 74_37 -1 known frame_shift_del c.2468_2467 p.E823fs 1.000:1.000 superfamily_PDZ pfam_PDZ,pfam_WW_dom,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_PDZ,smart_GK/Ca_channel_bsu,smart_WW_dom,pfscan_PDZ,pfscan_WW_dom,pfscan_Guanylate_kin-like - no_errors MAGI1 HGNC ENSG00000151276 tier1 42 0 0.00 27 4 12.90 MIR204 0 genome.wustl.edu 37 9 73424974 73424974 + RNA SNP C C T TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 9 73424974 73424974 C T SNP MIR204 ENST00000385200 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors MIR204 HGNC ENSG00000207935 tier1 - - 92 0 0.00 61 19 23.75 MOS 0 genome.wustl.edu 37 8 57025635 57025635 + Missense_Mutation SNP C C T TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 8 57025635 57025635 C T SNP MOS ENST00000311923 human ensembl 74_37 -1 known missense c.907 p.V303I 0.902 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MOS HGNC ENSG00000172680 32 0 0.00 39 4 9.30 MUC16 0 genome.wustl.edu 37 19 9063417 9063417 + Missense_Mutation SNP G G T TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 19 9063417 9063417 G T SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.24029 p.A8010E 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 63 0 0.00 30 21 41.18 MYH13 0 genome.wustl.edu 37 17 10214454 10214454 + Missense_Mutation SNP T T C TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 17 10214454 10214454 T C SNP MYH13 ENST00000252172 human ensembl 74_37 -1 known missense c.4622 p.K1541R 1.000 pfam_Myosin_tail,superfamily_Prefoldin pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH13 HGNC ENSG00000006788 tier1 - - 40 0 0.00 30 16 34.78 NALCN 0 genome.wustl.edu 37 13 101797194 101797194 + Silent SNP C C A TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 13 101797194 101797194 C A SNP NALCN ENST00000251127 human ensembl 74_37 -1 known silent c.1893 p.L631 0.999 NULL pfam_Ion_trans_dom - no_errors NALCN HGNC ENSG00000102452 tier1 - - 157 0 0.00 153 44 22.34 NFE2 0 genome.wustl.edu 37 12 54686313 54686313 + Missense_Mutation SNP G G A TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 12 54686313 54686313 G A SNP NFE2 ENST00000312156 human ensembl 74_37 -1 known missense c.967 p.R323C 1.000 pfam_bZIP_Maf,smart_bZIP,pfscan_bZIP pfam_bZIP,pfam_bZIP_Maf,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors NFE2 HGNC ENSG00000123405 tier1 - - 47 0 0.00 49 19 27.94 NOP2 0 genome.wustl.edu 37 12 6675295 6675295 + Missense_Mutation SNP T T C TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 12 6675295 6675295 T C SNP NOP2 ENST00000322166 human ensembl 74_37 -1 known missense c.446 p.N149S 0.001 NULL pfam_Fmu/NOL1/Nop2p,pfam_P120R,pfam_rRNA_MeTrfase_FtsJ_dom,prints_RCMT,prints_RCMT_NOP2,tigrfam_Nop2p - no_errors NOP2 HGNC ENSG00000111641 tier1 - - 19 0 0.00 20 5 20.00 OR13C2 0 genome.wustl.edu 37 9 107367575 107367575 + Missense_Mutation SNP A A G TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 9 107367575 107367575 A G SNP OR13C2 ENST00000542196 human ensembl 74_37 -1 known missense c.334 p.C112R 0.998 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 OR13C2 HGNC ENSG00000257019 tier1 - - 87 0 0.00 91 10 9.71 OR2G3 0 genome.wustl.edu 37 1 247769166 247769166 + Silent SNP T T G TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 1 247769166 247769166 T G SNP OR2G3 ENST00000320002 human ensembl 74_37 +1 known silent c.279 p.T93 0.008 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 OR2G3 HGNC ENSG00000177476 tier1 - - 174 0 0.00 125 51 28.98 OR4C3 0 genome.wustl.edu 37 11 48346858 48346858 + Silent SNP C C T TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 11 48346858 48346858 C T SNP OR4C3 ENST00000319856 human ensembl 74_37 +1 known silent c.366 p.C122 0.664 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 OR4C3 HGNC ENSG00000176547 tier1 - - 229 0 0.00 239 43 15.25 PANX3 0 genome.wustl.edu 37 11 124482877 124482877 + Silent SNP G G C TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 11 124482877 124482877 G C SNP PANX3 ENST00000284288 human ensembl 74_37 +1 known silent c.183 p.G61 0.571 pfam_Innexin,pfscan_Innexin pfam_Innexin,pfscan_Innexin - no_errors PANX3 HGNC ENSG00000154143 tier1 - - 35 0 0.00 35 6 14.63 PCDH10 0 genome.wustl.edu 37 4 134073129 134073129 + Missense_Mutation SNP G G A TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 4 134073129 134073129 G A SNP PCDH10 ENST00000264360 human ensembl 74_37 +1 known missense c.1834 p.E612K 0.998 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 PCDH10 HGNC ENSG00000138650 tier1 - - 59 0 0.00 34 14 29.17 PCDH20 0 genome.wustl.edu 37 13 61986230 61986230 + Missense_Mutation SNP C C G TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 13 61986230 61986230 C G SNP PCDH20 ENST00000409186 human ensembl 74_37 -1 known missense c.2002 p.A668P 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH20 HGNC ENSG00000197991 tier1 - - 46 0 0.00 63 20 24.10 PCDHA3 0 genome.wustl.edu 37 5 140182627 140182627 + Silent SNP C C T TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 5 140182627 140182627 C T SNP PCDHA3 ENST00000522353 human ensembl 74_37 +1 known silent c.1845 p.T615 0.001 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA3 HGNC ENSG00000255408 tier1 - - 84 0 0.00 65 23 26.14 PCDHA7 0 genome.wustl.edu 37 5 140215544 140215544 + Missense_Mutation SNP G G A TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 5 140215544 140215544 G A SNP PCDHA7 ENST00000525929 human ensembl 74_37 +1 known missense c.1576 p.E526K 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA7 HGNC ENSG00000204963 tier1 - - 181 0 0.00 138 41 22.78 PDHA2 0 genome.wustl.edu 37 4 96762224 96762224 + Missense_Mutation SNP T T G TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 4 96762224 96762224 T G SNP PDHA2 ENST00000295266 human ensembl 74_37 +1 known missense c.923 p.V308G 0.081 pfam_DH_E1,tigrfam_Pyrv_DH_E1_asu_subgrp-y pfam_DH_E1,tigrfam_Pyrv_DH_E1_asu_subgrp-y - no_errors PDHA2 HGNC ENSG00000163114 tier1 - - 58 0 0.00 30 13 30.23 PDZRN3 0 genome.wustl.edu 37 3 73437221 73437222 + Splice_Site INS - - T TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 3 73437221 73437222 - T INS PDZRN3 ENST00000263666 human ensembl 74_37 -1 known splice_site_ins c.1417-2_1417-1 e8-1 1.000:1.000 - - - no_errors PDZRN3 HGNC ENSG00000121440 tier1 92 0 0.00 92 11 10.68 PHLPP1 0 genome.wustl.edu 37 18 60645679 60645679 + Missense_Mutation SNP G G A TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 18 60645679 60645679 G A SNP PHLPP1 ENST00000262719 human ensembl 74_37 +1 known missense c.4169 p.R1390H 1.000 pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom pfam_PP2C-like_dom,pfam_Leu-rich_rpt,superfamily_PP2C-like_dom,smart_Leu-rich_rpt_typical-subtyp,smart_PP2C-like_dom,pfscan_Pleckstrin_homology - no_errors PHLPP1 HGNC ENSG00000081913 tier1 - - 13 0 0.00 4 9 69.23 PIDD 0 genome.wustl.edu 37 11 803329 803329 + Missense_Mutation SNP G G A TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 11 803329 803329 G A SNP PIDD ENST00000347755 human ensembl 74_37 -1 known missense c.554 p.T185M 0.000 smart_Leu-rich_rpt_typical-subtyp pfam_Peptidase_S68_pidd,pfam_Death_domain,pfam_Leu-rich_rpt,pfam_ZU5,superfamily_DEATH-like_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Death_domain,pfscan_Death_domain,pfscan_ZU5 - no_errors PIDD HGNC ENSG00000177595 tier1 - - 60 0 0.00 41 18 30.51 PIGM 0 genome.wustl.edu 37 1 160000761 160000761 + Missense_Mutation SNP T T C TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 1 160000761 160000761 T C SNP PIGM ENST00000368090 human ensembl 74_37 -1 known missense c.769 p.T257A 1.000 pfam_Mannosyltransferase_DXD pfam_Mannosyltransferase_DXD - no_errors PIGM HGNC ENSG00000143315 tier1 - - 151 0 0.00 132 61 31.61 PIPOX 0 genome.wustl.edu 37 17 27382857 27382857 + Silent SNP C C T TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 17 27382857 27382857 C T SNP PIPOX ENST00000323372 human ensembl 74_37 +1 known silent c.993 p.L331 0.937 pfam_FAD-dep_OxRdtase,tigrfam_SoxA_mon pfam_FAD-dep_OxRdtase,tigrfam_SoxA_mon - no_errors PIPOX HGNC ENSG00000179761 tier1 rs142726156 - 117 0 0.00 71 40 36.04 PKDREJ 0 genome.wustl.edu 37 22 46652958 46652958 + Missense_Mutation SNP C C T TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 22 46652958 46652958 C T SNP PKDREJ ENST00000253255 human ensembl 74_37 -1 known missense c.6262 p.G2088S 0.970 pfam_PKD1_2_channel,pfam_Ion_trans_dom pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_PLAT/LH2_dom,pfam_Ion_trans_dom,superfamily_Lipase_LipOase,smart_GPS_dom,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like,prints_PKD_2 - no_errors PKDREJ HGNC ENSG00000130943 tier1 - - 37 0 0.00 19 5 20.83 POMGNT1 0 genome.wustl.edu 37 1 46660274 46660274 + Nonsense_Mutation SNP C C T TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 1 46660274 46660274 C T SNP POMGNT1 ENST00000371986 human ensembl 74_37 -1 known nonsense c.702 p.W234* 1.000 NULL pfam_Glyco_trans_13 - no_errors POMGNT1 HGNC ENSG00000085998 tier1 - - 52 0 0.00 48 23 32.39 POU3F2 0 genome.wustl.edu 37 6 99283591 99283591 + Missense_Mutation SNP G G A TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 6 99283591 99283591 G A SNP POU3F2 ENST00000328345 human ensembl 74_37 +1 known missense c.842 p.R281Q 1.000 pirsf_Transcription_factor_POU,pfam_POU_specific,superfamily_Lambda_DNA-bd_dom,smart_POU_specific,pfscan_POU_specific,prints_POU pirsf_Transcription_factor_POU,pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU3F2 HGNC ENSG00000184486 tier1 - - 211 0 0.00 180 53 22.75 PXDN 0 genome.wustl.edu 37 2 1652001 1652001 + Missense_Mutation SNP G G A TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 2 1652001 1652001 G A SNP PXDN ENST00000252804 human ensembl 74_37 -1 known missense c.3551 p.T1184M 0.991 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom - no_errors PXDN HGNC ENSG00000130508 tier1 - - 173 0 0.00 126 65 34.03 PYGL 0 genome.wustl.edu 37 14 51383679 51383679 + Splice_Site SNP C C T TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 14 51383679 51383679 C T SNP PYGL ENST00000216392 human ensembl 74_37 -1 known splice_site c.999+1 e8+1 1.000 - - - no_errors PYGL HGNC ENSG00000100504 tier1 - - 37 0 0.00 34 4 10.53 RFX2 0 genome.wustl.edu 37 19 5997178 5997178 + Missense_Mutation SNP C C T TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 19 5997178 5997178 C T SNP RFX2 ENST00000303657 human ensembl 74_37 -1 known missense c.1906 p.G636S 1.000 NULL pfam_RFX1_trans_act,pfam_DNA-bd_RFX - no_errors RFX2 HGNC ENSG00000087903 tier1 - - 34 0 0.00 20 12 37.50 RPRD2 0 genome.wustl.edu 37 1 150443889 150443889 + Missense_Mutation SNP A A G TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 1 150443889 150443889 A G SNP RPRD2 ENST00000369068 human ensembl 74_37 +1 known missense c.2465 p.Y822C 0.997 NULL pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,superfamily_Ricin_B_lectin,smart_CID_dom - no_errors RPRD2 HGNC ENSG00000163125 18 0 0.00 27 5 15.62 SEC16A 0 genome.wustl.edu 37 9 139357394 139357394 + Missense_Mutation SNP G G A TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 9 139357394 139357394 G A SNP SEC16A ENST00000313050 human ensembl 74_37 -1 known missense c.4838 p.S1613L 0.002 NULL NULL - no_errors SEC16A HGNC ENSG00000148396 tier1 - - 58 0 0.00 35 14 28.57 SLC28A2 0 genome.wustl.edu 37 15 45561706 45561706 + Missense_Mutation SNP G G T TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 15 45561706 45561706 G T SNP SLC28A2 ENST00000347644 human ensembl 74_37 +1 known missense c.1539 p.W513C 0.974 pfam_Nucleos_tra2_C,tigrfam_C_nuclsd_transpt_met_bac pfam_Nucleos_tra2_C,pfam_Nuclsd_transpt2,pfam_Nucleoside_recog_Gate,tigrfam_C_nuclsd_transpt_met_bac - no_errors SLC28A2 HGNC ENSG00000137860 tier1 - - 58 0 0.00 41 17 29.31 SLC2A14 0 genome.wustl.edu 37 12 7984210 7984210 + Missense_Mutation SNP G G A TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 12 7984210 7984210 G A SNP SLC2A14 ENST00000396589 human ensembl 74_37 -1 known missense c.331 p.R111C 1.000 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt pfam_Sub_transporter,pfam_MFS,pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,prints_Sugar/inositol_transpt,prints_Glc_transpt_3,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt - no_errors SLC2A14 HGNC ENSG00000173262 tier1 - - 37 0 0.00 25 13 34.21 SLC32A1 0 genome.wustl.edu 37 20 37357025 37357025 + Missense_Mutation SNP G G A TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 20 37357025 37357025 G A SNP SLC32A1 ENST00000217420 human ensembl 74_37 +1 known missense c.1321 p.V441I 0.997 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC32A1 HGNC ENSG00000101438 tier1 - - 48 0 0.00 46 19 29.23 SLC6A14 0 genome.wustl.edu 37 X 115584256 115584256 + Frame_Shift_Del DEL T T - TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 X 115584256 115584256 T - DEL SLC6A14 ENST00000371900 human ensembl 74_37 +1 known frame_shift_del c.1234 p.F414fs 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport - no_errors SLC6A14 HGNC ENSG00000087916 tier1 32 0 0.00 29 2 6.45 SLCO6A1 0 genome.wustl.edu 37 5 101815969 101815969 + Silent SNP A A C TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 5 101815969 101815969 A C SNP SLCO6A1 ENST00000379807 human ensembl 74_37 -1 known silent c.528 p.A176 0.026 pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter - no_errors SLCO6A1 HGNC ENSG00000205359 tier1 - - 52 0 0.00 46 12 20.34 SNHG14 0 genome.wustl.edu 37 15 25472070 25472070 + RNA SNP G G T TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 15 25472070 25472070 G T SNP SNHG14 ENST00000453082 human ensembl 74_37 +1 known rna NULL NULL 0.022 - - - no_errors SNHG14 HGNC ENSG00000224078 tier1 - - 14 0 0.00 17 7 28.00 SNORD116-5 0 genome.wustl.edu 37 15 25307555 25307555 + RNA SNP T T C TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 15 25307555 25307555 T C SNP SNORD116-5 ENST00000384462 human ensembl 74_37 +1 known rna NULL NULL 0.053 - - - no_errors SNORD116-5 HGNC ENSG00000207191 tier1 - - 174 0 0.00 137 88 39.11 STAT5B 0 genome.wustl.edu 37 17 40379660 40379660 + Missense_Mutation SNP T T G TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 17 40379660 40379660 T G SNP STAT5B ENST00000293328 human ensembl 74_37 -1 known missense c.172 p.T58P 1.000 pfam_STAT_TF_prot_interaction,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2 - no_errors STAT5B HGNC ENSG00000173757 tier1 - - 39 0 0.00 20 9 31.03 STT3A 0 genome.wustl.edu 37 11 125488282 125488282 + Missense_Mutation SNP C C A TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 11 125488282 125488282 C A SNP STT3A ENST00000392708 human ensembl 74_37 +1 known missense c.1789 p.L597I 1.000 pfam_Oligo_trans_STT3 pfam_Oligo_trans_STT3 - no_errors STT3A HGNC ENSG00000134910 tier1 - - 40 0 0.00 27 12 30.00 SUCO 0 genome.wustl.edu 37 1 172558821 172558821 + Silent SNP T T G TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 1 172558821 172558821 T G SNP SUCO ENST00000608151 human ensembl 74_37 +1 known silent c.3036 p.S1012 0.986 NULL pfam_Sad1_UNC_C,superfamily_Galactose-bd-like - no_errors SUCO HGNC ENSG00000094975 tier1 - - 49 0 0.00 46 21 31.34 SV2A 0 genome.wustl.edu 37 1 149882435 149882435 + Missense_Mutation SNP A A G TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 1 149882435 149882435 A G SNP SV2A ENST00000369146 human ensembl 74_37 -1 known missense c.898 p.W300R 1.000 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2 - no_errors SV2A HGNC ENSG00000159164 tier1 - - 28 0 0.00 31 8 20.51 SYNGR3 0 genome.wustl.edu 37 16 2042694 2042694 + Missense_Mutation SNP G G T TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 16 2042694 2042694 G T SNP SYNGR3 ENST00000248121 human ensembl 74_37 +1 known missense c.395 p.R132L 0.996 pfam_Marvel,pirsf_Synaptogyrin pfam_Marvel,pirsf_Synaptogyrin - no_errors SYNGR3 HGNC ENSG00000127561 tier1 - - 23 0 0.00 16 5 23.81 TAF4B 0 genome.wustl.edu 37 18 23845151 23845151 + Missense_Mutation SNP A A C TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 18 23845151 23845151 A C SNP TAF4B ENST00000269142 human ensembl 74_37 +1 known missense c.361 p.S121R 1.000 NULL pfam_TAF4,pfam_TAFH_NHR1,superfamily_Histone-fold,smart_TAFH_NHR1,pfscan_TAFH_NHR1 - no_errors TAF4B HGNC ENSG00000141384 tier1 - - 106 0 0.00 31 25 44.64 TAS2R41 0 genome.wustl.edu 37 7 143175406 143175407 + Frame_Shift_Ins INS - - T TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 7 143175406 143175407 - T INS TAS2R41 ENST00000408916 human ensembl 74_37 +1 known frame_shift_ins c.441_442 p.W149fs 0.006:0.499 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R41 HGNC ENSG00000221855 tier1 47 0 0.00 27 2 6.90 TENM4 0 genome.wustl.edu 37 11 78369428 78369428 + Missense_Mutation SNP C C T TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 11 78369428 78369428 C T SNP TENM4 ENST00000278550 human ensembl 74_37 -1 known missense c.7985 p.R2662H 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM4 HGNC ENSG00000149256 tier1 - - 30 0 0.00 15 6 28.57 TG 0 genome.wustl.edu 37 8 133919008 133919008 + Missense_Mutation SNP C C A TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 8 133919008 133919008 C A SNP TG ENST00000220616 human ensembl 74_37 +1 known missense c.3710 p.P1237H 0.000 pirsf_Thyroglobulin pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1 - no_errors TG HGNC ENSG00000042832 tier1 - - 50 0 0.00 39 12 23.08 TP53 0 genome.wustl.edu 37 17 7578190 7578190 + Missense_Mutation SNP T T C TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 17 7578190 7578190 T C SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.659 p.Y220C 0.998 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 - - 20 0 0.00 8 7 46.67 TRAF3 0 genome.wustl.edu 37 14 103342798 103342798 + Missense_Mutation SNP C C T TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 14 103342798 103342798 C T SNP TRAF3 ENST00000392745 human ensembl 74_37 +1 known missense c.506 p.A169V 1.000 superfamily_TRAF-like,pirsf_TNF_rcpt--assoc_TRAF,pfscan_Znf_TRAF pfam_MATH,superfamily_TRAF-like,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH,pfscan_Znf_RING,pfscan_Znf_TRAF - no_errors TRAF3 HGNC ENSG00000131323 tier1 - - 22 0 0.00 11 13 54.17 TRIM42 0 genome.wustl.edu 37 3 140401463 140401463 + Silent SNP G G A TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 3 140401463 140401463 G A SNP TRIM42 ENST00000286349 human ensembl 74_37 +1 known silent c.501 p.E167 1.000 pfscan_Znf_RING pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Znf_B-box,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM42 HGNC ENSG00000155890 tier1 - - 59 0 0.00 49 11 18.33 TTN 0 genome.wustl.edu 37 2 179592368 179592368 + Missense_Mutation SNP C C A TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 2 179592368 179592368 C A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.16205 p.C5402F 1.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 167 0 0.00 96 46 32.39 TTN 0 genome.wustl.edu 37 2 179604013 179604013 + Missense_Mutation SNP C C A TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 2 179604013 179604013 C A SNP TTN ENST00000342175 human ensembl 74_37 -1 known missense c.13434 p.K4478N 1.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 26 0 0.00 27 11 28.95 TTYH2 0 genome.wustl.edu 37 17 72249248 72249248 + Missense_Mutation SNP G G T TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 17 72249248 72249248 G T SNP TTYH2 ENST00000269346 human ensembl 74_37 +1 known missense c.1288 p.D430Y 0.976 pfam_Tweety pfam_Tweety - no_errors TTYH2 HGNC ENSG00000141540 tier1 - - 93 0 0.00 72 33 31.43 TYRO3 0 genome.wustl.edu 37 15 41865311 41865311 + Splice_Site SNP T T C TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 15 41865311 41865311 T C SNP TYRO3 ENST00000263798 human ensembl 74_37 +1 known splice_site c.1985+2 e16+2 1.000 - - - no_errors TYRO3 HGNC ENSG00000092445 41 0 0.00 64 4 5.88 UMODL1 0 genome.wustl.edu 37 21 43522315 43522315 + Missense_Mutation SNP A A C TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 21 43522315 43522315 A C SNP UMODL1 ENST00000408989 human ensembl 74_37 +1 known missense c.1226 p.H409P 0.114 pfam_SEA_dom pfam_ZP_dom,pfam_SEA_dom,pfam_EGF-like_Ca-bd_dom,pfam_EMI_domain,pfam_WAP-type_4-diS_core,superfamily_Fibronectin_type3,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,smart_EGF-like_Ca-bd_dom,smart_Fibronectin_type3,smart_ZP_dom,pfscan_EG-like_dom,pfscan_EMI_domain,pfscan_Fibronectin_type3,pfscan_ZP_dom,prints_ZP_dom - no_errors UMODL1 HGNC ENSG00000177398 tier1 - - 88 0 0.00 27 24 47.06 USP43 0 genome.wustl.edu 37 17 9632212 9632212 + Missense_Mutation SNP C C T TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 17 9632212 9632212 C T SNP USP43 ENST00000285199 human ensembl 74_37 +1 known missense c.3277 p.P1093S 0.000 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP43 HGNC ENSG00000154914 tier1 - - 97 0 0.00 47 26 35.62 USP48 0 genome.wustl.edu 37 1 22048172 22048172 + Silent SNP A A T TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 1 22048172 22048172 A T SNP USP48 ENST00000308271 human ensembl 74_37 -1 known silent c.1734 p.V578 0.773 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67,pfscan_Ubiquitin_supergroup - no_errors USP48 HGNC ENSG00000090686 tier1 - - 48 0 0.00 28 14 33.33 VCX3A 0 genome.wustl.edu 37 X 6451864 6451864 + Silent SNP C C T TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 X 6451864 6451864 C T SNP VCX3A ENST00000381089 human ensembl 74_37 -1 known silent c.483 p.E161 0.548 NULL NULL - no_errors VCX3A HGNC ENSG00000169059 tier1 rs143093189 - 21 0 0.00 18 5 21.74 VPS13A 0 genome.wustl.edu 37 9 79933278 79933278 + Nonsense_Mutation SNP T T A TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 9 79933278 79933278 T A SNP VPS13A ENST00000360280 human ensembl 74_37 +1 known nonsense c.5084 p.L1695* 0.920 NULL pfam_VPSAP_dom,pfam_Autophagy-rel_C - no_errors VPS13A HGNC ENSG00000197969 tier1 - - 74 0 0.00 58 25 29.76 WDR82 0 genome.wustl.edu 37 3 52312269 52312269 + Missense_Mutation SNP T T A TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 3 52312269 52312269 T A SNP WDR82 ENST00000296490 human ensembl 74_37 -1 known missense c.109 p.I37F 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR82 HGNC ENSG00000164091 tier1 - - 42 0 0.00 35 16 31.37 WNT3A 0 genome.wustl.edu 37 1 228247140 228247140 + Missense_Mutation SNP G G A TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 1 228247140 228247140 G A SNP WNT3A ENST00000366753 human ensembl 74_37 +1 known missense c.1033 p.V345I 1.000 pfam_Wnt,smart_Wnt pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt3 - no_errors WNT3A HGNC ENSG00000154342 tier1 - - 14 0 0.00 7 6 46.15 ZFP36 0 genome.wustl.edu 37 19 39898794 39898795 + Frame_Shift_Del DEL CT CT - TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 19 39898794 39898795 CT - DEL ZFP36 ENST00000597629 human ensembl 74_37 +1 known frame_shift_del c.454_455 p.C153fs 1.000:1.000 pfam_Znf_CCCH,smart_Znf_CCCH pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZFP36 HGNC ENSG00000128016 tier1 79 0 0.00 73 33 31.13 ZNF254 0 genome.wustl.edu 37 19 24309325 24309325 + Silent SNP A A C TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 19 24309325 24309325 A C SNP ZNF254 ENST00000357002 human ensembl 74_37 +1 known silent c.523 p.R175 0.004 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 ZNF254 HGNC ENSG00000213096 tier1 - - 66 0 0.00 58 19 24.68 ZNF366 0 genome.wustl.edu 37 5 71756582 71756582 + Missense_Mutation SNP C C T TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 5 71756582 71756582 C T SNP ZNF366 ENST00000318442 human ensembl 74_37 -1 known missense c.742 p.G248S 0.992 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF366 HGNC ENSG00000178175 tier1 - - 103 0 0.00 88 29 24.79 ZNF429 0 genome.wustl.edu 37 19 21719208 21719208 + Missense_Mutation SNP A A G TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 19 21719208 21719208 A G SNP ZNF429 ENST00000358491 human ensembl 74_37 +1 novel missense c.353 p.K118R 0.000 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 ZNF429 HGNC ENSG00000197013 tier1 - - 56 0 0.00 39 22 36.07 ZNF493 0 genome.wustl.edu 37 19 21607526 21607526 + Missense_Mutation SNP A A G TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 19 21607526 21607526 A G SNP ZNF493 ENST00000355504 human ensembl 74_37 +1 known missense c.1681 p.K561E 0.001 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF493 HGNC ENSG00000196268 34 0 0.00 36 4 10.00 ZNF500 0 genome.wustl.edu 37 16 4802667 4802667 + Missense_Mutation SNP C C T TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 16 4802667 4802667 C T SNP ZNF500 ENST00000219478 human ensembl 74_37 -1 known missense c.1153 p.E385K 0.062 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZNF500 HGNC ENSG00000103199 tier1 - - 12 0 0.00 14 8 36.36 ZNF598 0 genome.wustl.edu 37 16 2048486 2048486 + Missense_Mutation SNP G G A TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 16 2048486 2048486 G A SNP ZNF598 ENST00000431526 human ensembl 74_37 -1 known missense c.2462 p.T821M 0.996 superfamily_PAH superfamily_PAH,smart_Znf_C2H2-like,pfscan_Znf_RING - no_errors ZNF598 HGNC ENSG00000167962 tier1 - - 52 0 0.00 34 17 33.33 ZNF658 0 genome.wustl.edu 37 9 40774526 40774526 + Missense_Mutation SNP T T C TCGA-VQ-AA6G-01A-11D-A410-08 TCGA-VQ-AA6G-10A-01D-A413-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2ed43bef-b90e-4029-be14-cfdfa58bec9a 6f381501-d383-443d-9102-96fcce2ae971 9 40774526 40774526 T C SNP ZNF658 ENST00000377626 human ensembl 74_37 -1 known missense c.749 p.K250R 0.993 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 ZNF658 HGNC ENSG00000196409 tier1 - - 160 0 0.00 92 49 34.75