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 ABCG8 0 genome.wustl.edu 37 2 44079810 44079810 + Missense_Mutation SNP C C T TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 2 44079810 44079810 C T SNP ABCG8 ENST00000272286 human ensembl 74_37 +1 known missense c.767 p.S256F 1.000 superfamily_P-loop_NTPase,pfscan_ABC_transporter-like pfam_ABC_2_trans,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,pfscan_ABC_transporter-like - no_errors ABCG8 HGNC ENSG00000143921 tier1 - - 39 0 0.00 31 10 24.39 ACOX1 0 genome.wustl.edu 37 17 73975071 73975071 + Silent SNP C C T TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 17 73975071 73975071 C T SNP ACOX1 ENST00000293217 human ensembl 74_37 -1 known silent c.84 p.E28 1.000 superfamily_AcylCoA_DH/oxidase_NM_dom,pirsf_Acyl-CoA_oxidase pfam_Acyl-CoA_oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCo_DH/oxidase_C,superfamily_AcylCoA_DH/oxidase_NM_dom,pirsf_Acyl-CoA_oxidase - no_errors ACOX1 HGNC ENSG00000161533 tier1 - - 45 0 0.00 30 9 23.08 ADAMTSL1 0 genome.wustl.edu 37 9 18776926 18776926 + Missense_Mutation SNP C C T TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 9 18776926 18776926 C T SNP ADAMTSL1 ENST00000380548 human ensembl 74_37 +1 novel missense c.2699 p.P900L 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors ADAMTSL1 HGNC ENSG00000178031 tier1 - - 34 0 0.00 23 36 61.02 ADSL 0 genome.wustl.edu 37 22 40754947 40754947 + Missense_Mutation SNP C C T TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 22 40754947 40754947 C T SNP ADSL ENST00000454266 human ensembl 74_37 +1 known missense c.604 p.R202C 1.000 pfam_Fumarate_lyase_N,superfamily_L-Aspartase-like,tigrfam_Pur_lyase pfam_Fumarate_lyase_N,pfam_AdenyloSucc_lyase_C,superfamily_L-Aspartase-like,prints_Fumarate_lyase_fam,tigrfam_Pur_lyase - no_errors ADSL HGNC ENSG00000239900 tier1 - - 41 0 0.00 24 17 41.46 AGL 0 genome.wustl.edu 37 1 100316652 100316652 + Silent SNP G G A TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 1 100316652 100316652 G A SNP AGL ENST00000294724 human ensembl 74_37 +1 known silent c.54 p.L18 0.995 NULL pfam_AGL/Gdb1,superfamily_6-hairpin_glycosidase-like,superfamily_Glycoside_hydrolase_SF,tigrfam_Glycogen_debranch_met - no_errors AGL HGNC ENSG00000162688 tier1 - - 44 0 0.00 41 4 8.89 AGMO 0 genome.wustl.edu 37 7 15427133 15427133 + Silent SNP G G A TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 7 15427133 15427133 G A SNP AGMO ENST00000342526 human ensembl 74_37 -1 known silent c.855 p.F285 1.000 NULL pfam_Fatty_acid_hydroxylase - no_errors AGMO HGNC ENSG00000187546 tier1 - - 49 0 0.00 68 12 15.00 AKT1 0 genome.wustl.edu 37 14 105236687 105236687 + Silent SNP G G T TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 14 105236687 105236687 G T SNP AKT1 ENST00000349310 human ensembl 74_37 -1 known silent c.1434 p.G478 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom - no_errors AKT1 HGNC ENSG00000142208 tier1 - - 48 0 0.00 45 4 8.16 ALDH1L2 0 genome.wustl.edu 37 12 105459083 105459083 + Missense_Mutation SNP C C G TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 12 105459083 105459083 C G SNP ALDH1L2 ENST00000258494 human ensembl 74_37 -1 known missense c.748 p.D250H 1.000 pfam_Formyl_trans_C,superfamily_Formyl_transferase_C-like,pirsf_10_FTHF_DH pfam_Aldehyde_DH_dom,pfam_Formyl_transf_N,pfam_Formyl_trans_C,pfam_Acyl_carrier_prot-like,superfamily_Ald_DH/histidinol_DH,superfamily_Formyl_transf_N,superfamily_Formyl_transferase_C-like,superfamily_Acyl_carrier_prot-like,pirsf_10_FTHF_DH,pfscan_Acyl_carrier_prot-like - no_errors ALDH1L2 HGNC ENSG00000136010 tier1 - - 19 0 0.00 19 5 20.83 ANGPT1 0 genome.wustl.edu 37 8 108359252 108359252 + Missense_Mutation SNP G G T TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 8 108359252 108359252 G T SNP ANGPT1 ENST00000517746 human ensembl 74_37 -1 known missense c.371 p.T124K 1.000 NULL pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors ANGPT1 HGNC ENSG00000154188 tier1 - - 52 0 0.00 73 11 12.94 ANKRD30B 0 genome.wustl.edu 37 18 14763794 14763794 + Silent SNP G G T TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 18 14763794 14763794 G T SNP ANKRD30B ENST00000358984 human ensembl 74_37 +1 known silent c.930 p.V310 0.021 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD30B HGNC ENSG00000180777 tier1 - - 37 0 0.00 66 4 5.71 ANKRD30BL 0 genome.wustl.edu 37 2 133015521 133015521 + RNA SNP C C G TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 2 133015521 133015521 C G SNP ANKRD30BL ENST00000470729 human ensembl 74_37 -1 known rna NULL NULL 0.006 - - - no_errors ANKRD30BL HGNC ENSG00000163046 75 0 0.00 78 15 16.13 ANKRD36BP2 0 genome.wustl.edu 37 2 89084344 89084344 + RNA SNP A A C TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 2 89084344 89084344 A C SNP ANKRD36BP2 ENST00000393515 human ensembl 74_37 +1 known rna NULL NULL 0.025 - - - no_errors ANKRD36BP2 HGNC ENSG00000230006 tier1 - - 79 0 0.00 85 18 17.48 ANO2 0 genome.wustl.edu 37 12 5915251 5915251 + Nonsense_Mutation SNP G G T TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 12 5915251 5915251 G T SNP ANO2 ENST00000356134 human ensembl 74_37 -1 known nonsense c.948 p.Y316* 0.909 NULL pfam_Anoctamin - no_errors ANO2 HGNC ENSG00000047617 27 0 0.00 29 2 6.45 ARMC5 0 genome.wustl.edu 37 16 31476122 31476122 + Missense_Mutation SNP G G T TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 16 31476122 31476122 G T SNP ARMC5 ENST00000408912 human ensembl 74_37 +1 known missense c.2063 p.R688L 0.178 superfamily_ARM-type_fold superfamily_ARM-type_fold,superfamily_BTB/POZ_fold,smart_Armadillo,pfscan_Armadillo,pfscan_BTB/POZ-like - no_errors ARMC5 HGNC ENSG00000140691 30 0 0.00 29 2 6.45 ASXL1 0 genome.wustl.edu 37 20 31024730 31024730 + Silent SNP C C T TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 20 31024730 31024730 C T SNP ASXL1 ENST00000375687 human ensembl 74_37 +1 known silent c.4215 p.V1405 1.000 NULL NULL - no_errors ASXL1 HGNC ENSG00000171456 25 0 0.00 36 3 7.69 ATP13A2 0 genome.wustl.edu 37 1 17322751 17322751 + Missense_Mutation SNP G G A TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 1 17322751 17322751 G A SNP ATP13A2 ENST00000326735 human ensembl 74_37 -1 known missense c.1351 p.R451W 0.977 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_Cation_typ_V,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP13A2 HGNC ENSG00000159363 tier1 rs139065780 - 58 0 0.00 47 16 25.40 ATP2B2 0 genome.wustl.edu 37 3 10382387 10382387 + Silent SNP G G T TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 3 10382387 10382387 G T SNP ATP2B2 ENST00000352432 human ensembl 74_37 -1 known silent c.2919 p.G973 0.661 pfam_ATPase_P-typ_cation-transptr_C,tigrfam_ATPase_P-typ_Ca-transp_plasma pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2B2 HGNC ENSG00000157087 29 0 0.00 24 2 7.69 B3GNT1 0 genome.wustl.edu 37 11 66114251 66114251 + Missense_Mutation SNP C C T TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 11 66114251 66114251 C T SNP B3GNT1 ENST00000311181 human ensembl 74_37 -1 known missense c.766 p.V256M 1.000 NULL NULL - no_errors B3GNT1 HGNC ENSG00000174684 tier1 - - 21 0 0.00 18 5 21.74 BHMT 0 genome.wustl.edu 37 5 78417107 78417107 + Missense_Mutation SNP G G A TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 5 78417107 78417107 G A SNP BHMT ENST00000274353 human ensembl 74_37 +1 known missense c.544 p.A182T 1.000 pfam_S_MeTrfase,superfamily_S_MeTrfase,pirsf_Betaine-hCys_S-MeTrfase_BHMT,pfscan_S_MeTrfase pfam_S_MeTrfase,superfamily_S_MeTrfase,pirsf_Betaine-hCys_S-MeTrfase_BHMT,pfscan_S_MeTrfase - no_errors BHMT HGNC ENSG00000145692 tier1 - - 45 0 0.00 39 5 11.36 BSN 0 genome.wustl.edu 37 3 49693542 49693542 + Missense_Mutation SNP G G C TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 3 49693542 49693542 G C SNP BSN ENST00000296452 human ensembl 74_37 +1 known missense c.6553 p.A2185P 1.000 NULL pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD - no_errors BSN HGNC ENSG00000164061 tier1 - - 30 0 0.00 24 7 22.58 BTN3A3 0 genome.wustl.edu 37 6 26452498 26452498 + Silent SNP G G A TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 6 26452498 26452498 G A SNP BTN3A3 ENST00000244519 human ensembl 74_37 +1 known silent c.1614 p.P538 0.002 NULL pfam_SPRY_rcpt,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Ig-like_dom,prints_Butyrophylin - no_errors BTN3A3 HGNC ENSG00000111801 tier1 - - 49 0 0.00 59 19 24.36 C10orf90 0 genome.wustl.edu 37 10 128193492 128193492 + Missense_Mutation SNP C C T TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 10 128193492 128193492 C T SNP C10orf90 ENST00000544758 human ensembl 74_37 -1 known missense c.568 p.G190R 0.000 NULL NULL - no_errors C10orf90 HGNC ENSG00000154493 tier1 - - 36 0 0.00 43 7 14.00 C14orf23 0 genome.wustl.edu 37 14 29261273 29261273 + Missense_Mutation SNP G G T TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 14 29261273 29261273 G T SNP C14orf23 ENST00000399387 human ensembl 74_37 +1 known missense c.310 p.D104Y 0.000 NULL NULL - no_errors C14orf23 HGNC ENSG00000186960 tier1 - - 50 0 0.00 44 6 12.00 C4BPB 0 genome.wustl.edu 37 1 207268664 207268664 + Missense_Mutation SNP G G T TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 1 207268664 207268664 G T SNP C4BPB ENST00000451804 human ensembl 74_37 +1 known missense c.408 p.Q136H 0.002 NULL pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors C4BPB HGNC ENSG00000123843 29 0 0.00 38 4 9.52 C9orf37 0 genome.wustl.edu 37 9 140510587 140510587 + Missense_Mutation SNP G G A TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 9 140510587 140510587 G A SNP C9orf37 ENST00000371417 human ensembl 74_37 -1 known missense c.65 p.S22L 0.052 NULL NULL - no_errors C9orf37 HGNC ENSG00000203993 18 0 0.00 21 2 8.70 CAMKK2 0 genome.wustl.edu 37 12 121691134 121691134 + Missense_Mutation SNP G G A TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 12 121691134 121691134 G A SNP CAMKK2 ENST00000324774 human ensembl 74_37 -1 known missense c.1049 p.T350M 1.000 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 CAMKK2 HGNC ENSG00000110931 tier1 - - 48 0 0.00 32 7 17.95 CASC5 0 genome.wustl.edu 37 15 40913867 40913867 + Missense_Mutation SNP A A C TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 15 40913867 40913867 A C SNP CASC5 ENST00000346991 human ensembl 74_37 +1 known missense c.1483 p.M495L 0.000 NULL NULL - no_errors CASC5 HGNC ENSG00000137812 tier1 - - 22 0 0.00 25 5 16.67 CCDC57 0 genome.wustl.edu 37 17 80059488 80059488 + RNA SNP G G A TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 17 80059488 80059488 G A SNP CCDC57 ENST00000584717 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors CCDC57 HGNC ENSG00000176155 tier1 - - 21 0 0.00 15 8 34.78 CCNL1 0 genome.wustl.edu 37 3 156868143 156868143 + Silent SNP G G T TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 3 156868143 156868143 G T SNP CCNL1 ENST00000295926 human ensembl 74_37 -1 known silent c.702 p.T234 1.000 superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_L pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_L - no_errors CCNL1 HGNC ENSG00000163660 tier1 - - 32 0 0.00 57 5 8.06 CD47 0 genome.wustl.edu 37 3 107764115 107764115 + RNA SNP T T G TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 3 107764115 107764115 T G SNP CD47 ENST00000471694 human ensembl 74_37 -1 known rna NULL NULL 0.004 - - - no_errors CD47 HGNC ENSG00000196776 tier1 - - 25 0 0.00 17 6 26.09 CEP104 0 genome.wustl.edu 37 1 3755527 3755527 + Splice_Site SNP C C A TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 1 3755527 3755527 C A SNP CEP104 ENST00000378230 human ensembl 74_37 -1 known splice_site c.891+1 e7+1 1.000 - - - no_errors CEP104 HGNC ENSG00000116198 tier1 - - 66 0 0.00 61 18 22.78 CEP170B 0 genome.wustl.edu 37 14 105355974 105355974 + Missense_Mutation SNP G G A TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 14 105355974 105355974 G A SNP CEP170B ENST00000453495 human ensembl 74_37 +1 known missense c.3865 p.A1289T 0.550 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors CEP170B HGNC ENSG00000099814 tier1 - - 65 0 0.00 69 16 18.82 CFHR3 0 genome.wustl.edu 37 1 196762609 196762609 + Missense_Mutation SNP G G A TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 1 196762609 196762609 G A SNP CFHR3 ENST00000367425 human ensembl 74_37 +1 known missense c.959 p.R320Q 0.000 superfamily_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFHR3 HGNC ENSG00000116785 tier1 - - 63 0 0.00 89 12 11.88 CHAF1A 0 genome.wustl.edu 37 19 4409549 4409549 + Silent SNP G G T TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 19 4409549 4409549 G T SNP CHAF1A ENST00000301280 human ensembl 74_37 +1 known silent c.753 p.P251 0.000 NULL pfam_CAF1A - no_errors CHAF1A HGNC ENSG00000167670 43 0 0.00 51 3 5.56 CNBD1 0 genome.wustl.edu 37 8 88297028 88297028 + Silent SNP T T C TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 8 88297028 88297028 T C SNP CNBD1 ENST00000518476 human ensembl 74_37 +1 known silent c.894 p.Y298 0.001 superfamily_cNMP-bd-like pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors CNBD1 HGNC ENSG00000176571 tier1 - - 36 0 0.00 32 6 15.79 CNOT1 0 genome.wustl.edu 37 16 58577316 58577316 + Frame_Shift_Del DEL A A - TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 16 58577316 58577316 A - DEL CNOT1 ENST00000441024 human ensembl 74_37 -1 known frame_shift_del c.4629 p.L1544fs 0.000 NULL superfamily_ARM-type_fold - no_errors CNOT1 HGNC ENSG00000125107 tier1 22 0 0.00 23 4 14.81 CNTN6 0 genome.wustl.edu 37 3 1427311 1427311 + Missense_Mutation SNP A A G TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 3 1427311 1427311 A G SNP CNTN6 ENST00000350110 human ensembl 74_37 +1 known missense c.2534 p.D845G 0.991 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN6 HGNC ENSG00000134115 tier1 - - 44 0 0.00 37 4 9.76 CNTNAP5 0 genome.wustl.edu 37 2 125175095 125175095 + Missense_Mutation SNP C C T TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 2 125175095 125175095 C T SNP CNTNAP5 ENST00000431078 human ensembl 74_37 +1 known missense c.457 p.R153C 1.000 pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP5 HGNC ENSG00000155052 tier1 - - 47 0 0.00 52 7 11.86 CPD 0 genome.wustl.edu 37 17 28712032 28712032 + Missense_Mutation SNP G G A TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 17 28712032 28712032 G A SNP CPD ENST00000225719 human ensembl 74_37 +1 known missense c.772 p.G258S 1.000 pfam_Peptidase_M14,smart_Peptidase_M14 pfam_Peptidase_M14,superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPD HGNC ENSG00000108582 tier1 - - 86 0 0.00 88 13 12.87 CSF2RA 0 genome.wustl.edu 37 X 1409284 1409284 + Silent SNP G G T TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 X 1409284 1409284 G T SNP CSF2RA ENST00000417535 human ensembl 74_37 +1 known silent c.528 p.V176 0.012 pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3 pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3 - no_errors CSF2RA HGNC ENSG00000198223 tier1 - - 101 0 0.00 93 21 18.42 CTNNAL1 0 genome.wustl.edu 37 9 111741738 111741738 + Silent SNP C C T TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 9 111741738 111741738 C T SNP CTNNAL1 ENST00000325551 human ensembl 74_37 -1 known silent c.924 p.E308 1.000 NULL pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin - no_errors CTNNAL1 HGNC ENSG00000119326 tier1 - - 35 0 0.00 49 8 14.04 CTSH 0 genome.wustl.edu 37 15 79220095 79220095 + Missense_Mutation SNP T T C TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 15 79220095 79220095 T C SNP CTSH ENST00000220166 human ensembl 74_37 -1 known missense c.659 p.K220R 0.459 pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C - no_errors CTSH HGNC ENSG00000103811 tier1 - - 34 0 0.00 40 6 13.04 CYP11B2 0 genome.wustl.edu 37 8 143995794 143995794 + Missense_Mutation SNP G G T TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 8 143995794 143995794 G T SNP CYP11B2 ENST00000323110 human ensembl 74_37 -1 known missense c.840 p.F280L 0.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_mitochondrial,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B - no_errors CYP11B2 HGNC ENSG00000179142 36 0 0.00 58 7 10.77 CYP11B2 0 genome.wustl.edu 37 8 143999142 143999142 + Missense_Mutation SNP C C G TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 8 143999142 143999142 C G SNP CYP11B2 ENST00000323110 human ensembl 74_37 -1 known missense c.115 p.E39Q 0.987 NULL pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_mitochondrial,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B - no_errors CYP11B2 HGNC ENSG00000179142 26 0 0.00 46 6 11.54 CYP2A13 0 genome.wustl.edu 37 19 41594483 41594483 + Missense_Mutation SNP G G T TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 19 41594483 41594483 G T SNP CYP2A13 ENST00000330436 human ensembl 74_37 +1 known missense c.107 p.G36V 0.999 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2A-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV - no_errors CYP2A13 HGNC ENSG00000197838 tier1 - - 78 0 0.00 92 21 18.58 CYP2A13 0 genome.wustl.edu 37 19 41597723 41597723 + Silent SNP C C T TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 19 41597723 41597723 C T SNP CYP2A13 ENST00000330436 human ensembl 74_37 +1 known silent c.741 p.F247 1.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2A-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV - no_errors CYP2A13 HGNC ENSG00000197838 tier1 - - 78 0 0.00 90 14 13.46 CYP2C18 0 genome.wustl.edu 37 10 96466623 96466623 + Missense_Mutation SNP G G T TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 10 96466623 96466623 G T SNP CYP2C18 ENST00000285979 human ensembl 74_37 +1 known missense c.725 p.S242I 0.000 pfam_Cyt_P450,superfamily_Cyt_P450 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 - no_errors CYP2C18 HGNC ENSG00000108242 23 0 0.00 36 2 5.26 D2HGDH 0 genome.wustl.edu 37 2 242681932 242681932 + Missense_Mutation SNP G G A TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 2 242681932 242681932 G A SNP D2HGDH ENST00000321264 human ensembl 74_37 +1 known missense c.433 p.E145K 1.000 pfam_Oxid_FAD_bind_N,superfamily_FAD-bd_2 pfam_FAD-linked_oxidase_C,pfam_Oxid_FAD_bind_N,superfamily_FAD-bd_2,superfamily_FAD-linked_Oxase-like_C - no_errors D2HGDH HGNC ENSG00000180902 tier1 - - 14 0 0.00 20 6 23.08 DAB2IP 0 genome.wustl.edu 37 9 124538484 124538484 + Missense_Mutation SNP C C T TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 9 124538484 124538484 C T SNP DAB2IP ENST00000408936 human ensembl 74_37 +1 known missense c.3128 p.A1043V 0.991 pfam_DUF3498 pfam_DUF3498,pfam_RasGAP,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP - no_errors DAB2IP HGNC ENSG00000136848 50 0 0.00 56 8 12.50 DKK1 0 genome.wustl.edu 37 10 54074591 54074591 + RNA SNP G G A TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 10 54074591 54074591 G A SNP DKK1 ENST00000467359 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors DKK1 HGNC ENSG00000107984 tier1 - - 48 0 0.00 31 6 16.22 DLGAP4 0 genome.wustl.edu 37 20 35156429 35156429 + RNA SNP G G A TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 20 35156429 35156429 G A SNP DLGAP4 ENST00000475894 human ensembl 74_37 +1 known rna NULL NULL 0.998 - - - no_errors DLGAP4 HGNC ENSG00000080845 tier1 - - 97 0 0.00 158 19 10.73 DNAH5 0 genome.wustl.edu 37 5 13776634 13776634 + Missense_Mutation SNP C C T TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 5 13776634 13776634 C T SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known missense c.9287 p.R3096Q 1.000 superfamily_P-loop_NTPase 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 DNAH5 HGNC ENSG00000039139 tier1 - - 43 0 0.00 42 9 17.65 DNAJC13 0 genome.wustl.edu 37 3 132242519 132242519 + Missense_Mutation SNP G G A TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 3 132242519 132242519 G A SNP DNAJC13 ENST00000260818 human ensembl 74_37 +1 known missense c.6022 p.E2008K 1.000 superfamily_ARM-type_fold pfam_DnaJ_domain,superfamily_ARM-type_fold,superfamily_GYF,smart_DnaJ_domain,pfscan_DnaJ_domain - no_errors DNAJC13 HGNC ENSG00000138246 tier1 - - 26 0 0.00 48 5 9.43 DOCK8 0 genome.wustl.edu 37 9 399175 399175 + Silent SNP C C T TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 9 399175 399175 C T SNP DOCK8 ENST00000453981 human ensembl 74_37 +1 known silent c.3150 p.I1050 1.000 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold - no_errors DOCK8 HGNC ENSG00000107099 tier1 - - 53 0 0.00 65 11 14.47 DQX1 0 genome.wustl.edu 37 2 74745640 74745640 + Missense_Mutation SNP G G T TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 2 74745640 74745640 G T SNP DQX1 ENST00000393951 human ensembl 74_37 -1 known missense c.2087 p.A696E 0.090 NULL pfam_Helicase-assoc_dom,pfam_DUF1605,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd - no_errors DQX1 HGNC ENSG00000144045 tier1 - - 29 0 0.00 31 6 16.22 EBLN2 0 genome.wustl.edu 37 3 73111574 73111574 + Silent SNP A A G TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 3 73111574 73111574 A G SNP EBLN2 ENST00000533473 human ensembl 74_37 +1 known silent c.342 p.A114 0.000 pfam_P40_nucleoprot_BD-vir,superfamily_P40_nucleoprot_BD-vir pfam_P40_nucleoprot_BD-vir,superfamily_P40_nucleoprot_BD-vir - no_errors EBLN2 HGNC ENSG00000255423 tier1 - - 31 0 0.00 24 9 27.27 EDEM2 0 genome.wustl.edu 37 20 33719587 33719587 + Splice_Site SNP C C T TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 20 33719587 33719587 C T SNP EDEM2 ENST00000374492 human ensembl 74_37 -1 known splice_site c.703-1 e7-1 1.000 - - - no_errors EDEM2 HGNC ENSG00000088298 tier1 - - 34 0 0.00 48 6 11.11 ENSG00000214184 0 genome.wustl.edu 37 2 109128434 109128436 + RNA DEL TTC TTC - TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 TTC TTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 2 109128434 109128436 TTC - DEL ENSG00000214184 ENST00000322353 human ensembl 74_37 -1 known rna NULL NULL 0.001:0.001:0.001 - - - no_errors AC012487.2 Clone_based_vega_gene ENSG00000214184 tier1 50 0 0.00 37 8 17.78 ENSG00000231064 0 genome.wustl.edu 37 1 155166792 155166792 + RNA SNP C C T TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 1 155166792 155166792 C T SNP ENSG00000231064 ENST00000447623 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-263K19.4 Clone_based_vega_gene ENSG00000231064 tier1 - - 27 0 0.00 52 7 11.86 ENSG00000259455 0 genome.wustl.edu 37 15 23407518 23407518 + Nonsense_Mutation SNP C C A TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 15 23407518 23407518 C A SNP ENSG00000259455 ENST00000558241 human ensembl 74_37 -1 novel nonsense c.1318 p.E440* 0.025 NULL superfamily_Ribosomal_L7/12_C/ClpS-like,prints_Tropomyosin - no_errors RP11-467N20.5 Clone_based_vega_gene ENSG00000259455 tier1 - - 10 0 0.00 2 2 50.00 ENSG00000259647 0 genome.wustl.edu 37 15 30297941 30297941 + RNA SNP C C G TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 15 30297941 30297941 C G SNP ENSG00000259647 ENST00000561392 human ensembl 74_37 -1 known rna NULL NULL 0.662 - - - no_errors RP11-143J24.1 Clone_based_vega_gene ENSG00000259647 tier1 - - 18 0 0.00 22 6 20.69 ENSG00000260465 0 genome.wustl.edu 37 16 66755236 66755236 + RNA DEL T T - TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 16 66755236 66755236 T - DEL ENSG00000260465 ENST00000569274 human ensembl 74_37 +1 known rna NULL NULL 0.712 - - - no_errors RP11-63M22.2 Clone_based_vega_gene ENSG00000260465 tier1 30 0 0.00 24 2 7.69 ERVMER34-1 0 genome.wustl.edu 37 4 53610318 53610324 + Frame_Shift_Del DEL TTAGACT TTAGACT - TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 TTAGACT TTAGACT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 4 53610318 53610324 TTAGACT 0 DEL ERVMER34-1 ENST00000440542 human ensembl 74_37 -1 known frame_shift_del c.1370_1364 p.K455fs 0.000:0.000:0.000:0.000:0.000:0.001:0.000 pfam_TLV/ENV_coat_polyprotein pfam_TLV/ENV_coat_polyprotein - no_errors ERVMER34-1 HGNC ENSG00000226887 27 0 0.00 40 5 11.11 ESR1 0 genome.wustl.edu 37 6 152265629 152265629 + Missense_Mutation SNP C C T TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 6 152265629 152265629 C T SNP ESR1 ENST00000206249 human ensembl 74_37 +1 known missense c.1082 p.A361V 1.000 superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt pfam_Oestr_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Oestr_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors ESR1 HGNC ENSG00000091831 14 0 0.00 31 4 11.43 ETFDH 0 genome.wustl.edu 37 4 159605747 159605747 + Missense_Mutation SNP C C T TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 4 159605747 159605747 C T SNP ETFDH ENST00000511912 human ensembl 74_37 +1 known missense c.409 p.P137S 1.000 NULL pfam_ETFD_OxRdtase,pfam_FAD_bind_dom,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_Pyridine_nuc-diS_OxRdtase_2 - no_errors ETFDH HGNC ENSG00000171503 25 0 0.00 33 7 17.50 FABP12 0 genome.wustl.edu 37 8 82439330 82439330 + Silent SNP G G T TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 8 82439330 82439330 G T SNP FABP12 ENST00000360464 human ensembl 74_37 -1 known silent c.273 p.S91 0.108 pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Fatty_acid-bd - no_errors FABP12 HGNC ENSG00000197416 25 0 0.00 63 4 5.97 FABP4 0 genome.wustl.edu 37 8 82391122 82391122 + Missense_Mutation SNP G G A TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 8 82391122 82391122 G A SNP FABP4 ENST00000256104 human ensembl 74_37 -1 known missense c.377 p.T126M 0.382 pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Fatty_acid-bd pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Fatty_acid-bd - no_errors FABP4 HGNC ENSG00000170323 tier1 - - 37 0 0.00 38 10 20.41 FAM46D 0 genome.wustl.edu 37 X 79698219 79698219 + Missense_Mutation SNP G G A TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 X 79698219 79698219 G A SNP FAM46D ENST00000308293 human ensembl 74_37 +1 known missense c.181 p.A61T 0.812 pfam_DUF1693 pfam_DUF1693 - no_errors FAM46D HGNC ENSG00000174016 tier1 - - 24 0 0.00 16 7 30.43 FAM73B 0 genome.wustl.edu 37 9 131823531 131823531 + Nonsense_Mutation SNP G G T TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 9 131823531 131823531 G T SNP FAM73B ENST00000358369 human ensembl 74_37 +1 known nonsense c.916 p.G306* 0.033 pfam_DUF2217 pfam_DUF2217 - no_errors FAM73B HGNC ENSG00000148343 23 0 0.00 31 2 6.06 FAM78A 0 genome.wustl.edu 37 9 134135694 134135694 + RNA SNP G G T TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 9 134135694 134135694 G T SNP FAM78A ENST00000247295 human ensembl 74_37 -1 known rna NULL NULL 0.991 - - - no_errors FAM78A HGNC ENSG00000126882 tier1 - - 59 0 0.00 67 4 5.63 FAT4 0 genome.wustl.edu 37 4 126373683 126373683 + Missense_Mutation SNP G G A TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 4 126373683 126373683 G A SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.11512 p.V3838M 0.957 smart_EG-like_dom,pfscan_EG-like_dom pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 tier1 - - 49 0 0.00 47 5 9.62 FGFR4 0 genome.wustl.edu 37 5 176524671 176524671 + Missense_Mutation SNP G G T TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 5 176524671 176524671 G T SNP FGFR4 ENST00000292408 human ensembl 74_37 +1 known missense c.2403 p.Q801H 0.110 pirsf_FGF_rcpt_fam pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors FGFR4 HGNC ENSG00000160867 28 0 0.00 37 3 7.50 FLG 0 genome.wustl.edu 37 1 152278186 152278186 + Nonsense_Mutation SNP G G T TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 1 152278186 152278186 G T SNP FLG ENST00000368799 human ensembl 74_37 -1 known nonsense c.9176 p.S3059* 0.001 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 tier1 - - 45 0 0.00 59 8 11.94 FLJ45256 0 genome.wustl.edu 37 16 24676205 24676205 + RNA SNP G G T TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 16 24676205 24676205 G T SNP FLJ45256 ENST00000414816 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AC012317.1 Clone_based_vega_gene ENSG00000224310 tier1 - - 34 0 0.00 60 4 6.25 FNIP2 0 genome.wustl.edu 37 4 159789786 159789786 + Silent SNP C C A TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 4 159789786 159789786 C A SNP FNIP2 ENST00000379346 human ensembl 74_37 +1 known silent c.2067 p.P689 0.000 NULL NULL - no_errors FNIP2 HGNC ENSG00000052795 tier1 - - 23 0 0.00 18 5 21.74 FSTL4 0 genome.wustl.edu 37 5 132939673 132939673 + Missense_Mutation SNP A A C TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 5 132939673 132939673 A C SNP FSTL4 ENST00000265342 human ensembl 74_37 -1 known missense c.2 p.M1R 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Kazal_dom,smart_Kazal_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_hand_dom,pfscan_Ig-like_dom - no_errors FSTL4 HGNC ENSG00000053108 18 0 0.00 21 3 12.50 FUCA2 0 genome.wustl.edu 37 6 143828412 143828412 + Missense_Mutation SNP C C T TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 6 143828412 143828412 C T SNP FUCA2 ENST00000002165 human ensembl 74_37 -1 known missense c.374 p.G125D 1.000 pfam_Glyco_hydro_29,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_29,pirsf_Glyco_hydro_29_sub pfam_Glyco_hydro_29,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_29,pirsf_Glyco_hydro_29_sub,prints_Glyco_hydro_29_sub - no_errors FUCA2 HGNC ENSG00000001036 tier1 - - 45 0 0.00 54 14 20.29 GDF11 0 genome.wustl.edu 37 12 56142696 56142696 + Missense_Mutation SNP G G A TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 12 56142696 56142696 G A SNP GDF11 ENST00000257868 human ensembl 74_37 +1 known missense c.772 p.E258K 1.000 pfam_TGF-b_N pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C - no_errors GDF11 HGNC ENSG00000135414 8 0 0.00 8 3 27.27 GGNBP2 0 genome.wustl.edu 37 17 34937810 34937810 + Nonsense_Mutation SNP G G T TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 17 34937810 34937810 G T SNP GGNBP2 ENST00000304718 human ensembl 74_37 +1 known nonsense c.1057 p.E353* 1.000 NULL NULL - no_errors GGNBP2 HGNC ENSG00000005955 25 0 0.00 26 2 7.14 GLB1L3 0 genome.wustl.edu 37 11 134179627 134179627 + Missense_Mutation SNP G G A TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 11 134179627 134179627 G A SNP GLB1L3 ENST00000431683 human ensembl 74_37 +1 known missense c.1069 p.G357R 0.000 pfam_Glycoside_Hdrlase_35,superfamily_Glycoside_hydrolase_SF pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,prints_Glycoside_Hdrlase_35 - no_errors GLB1L3 HGNC ENSG00000166105 tier1 - - 23 0 0.00 22 7 24.14 GOLGA2 0 genome.wustl.edu 37 9 131020815 131020815 + Missense_Mutation SNP C C A TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 9 131020815 131020815 C A SNP GOLGA2 ENST00000421699 human ensembl 74_37 -1 known missense c.2127 p.E709D 0.001 NULL superfamily_CofA_tubulin-bd - no_errors GOLGA2 HGNC ENSG00000167110 40 0 0.00 42 3 6.67 GOLGA3 0 genome.wustl.edu 37 12 133351871 133351871 + Missense_Mutation SNP C C G TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 12 133351871 133351871 C G SNP GOLGA3 ENST00000204726 human ensembl 74_37 -1 known missense c.3999 p.E1333D 0.167 NULL superfamily_Prefoldin - no_errors GOLGA3 HGNC ENSG00000090615 tier1 - - 59 0 0.00 47 8 14.55 GPS1 0 genome.wustl.edu 37 17 80011221 80011221 + Missense_Mutation SNP C C T TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 17 80011221 80011221 C T SNP GPS1 ENST00000580627 human ensembl 74_37 +1 known missense c.125 p.T42M 0.982 NULL NULL - no_errors GPS1 HGNC ENSG00000169727 tier1 - - 26 0 0.00 30 8 21.05 GRID1 0 genome.wustl.edu 37 10 87379698 87379698 + Silent SNP G G A TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 10 87379698 87379698 G A SNP GRID1 ENST00000327946 human ensembl 74_37 -1 known silent c.2286 p.G762 0.998 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRID1 HGNC ENSG00000182771 tier1 - - 48 0 0.00 57 11 16.18 GSTA5 0 genome.wustl.edu 37 6 52697688 52697688 + Missense_Mutation SNP G G A TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 6 52697688 52697688 G A SNP GSTA5 ENST00000284562 human ensembl 74_37 -1 known missense c.515 p.S172L 0.004 pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_GST_alpha - no_errors GSTA5 HGNC ENSG00000182793 tier1 - - 70 0 0.00 36 40 52.63 GUCA2B 0 genome.wustl.edu 37 1 42620500 42620500 + Silent SNP C C T TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 1 42620500 42620500 C T SNP GUCA2B ENST00000372581 human ensembl 74_37 +1 known silent c.240 p.C80 0.011 pfam_Guanylin,superfamily_Guanylin,pirsf_Guanylin,prints_Guanylin pfam_Guanylin,superfamily_Guanylin,pirsf_Guanylin,prints_Guanylin - no_errors GUCA2B HGNC ENSG00000044012 tier1 rs144117245 - 11 0 0.00 15 6 28.57 GUF1 0 genome.wustl.edu 37 4 44691414 44691414 + Missense_Mutation SNP G G A TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 4 44691414 44691414 G A SNP GUF1 ENST00000281543 human ensembl 74_37 +1 known missense c.1190 p.G397D 1.000 superfamily_EFG_III-V,tigrfam_EF-4 pfam_EF_GTP-bd_dom,pfam_LepA_GTP-bd_C,pfam_EFG_V,pfam_Transl_elong_EFTu/EF1A_2,pfam_Small_GTPase,superfamily_P-loop_NTPase,superfamily_EFG_III-V,superfamily_Transl_B-barrel,prints_EF_GTP-bd_dom,tigrfam_EF-4,tigrfam_Small_GTP-bd_dom - no_errors GUF1 HGNC ENSG00000151806 45 0 0.00 40 3 6.98 HCN1 0 genome.wustl.edu 37 5 45262430 45262430 + Nonsense_Mutation SNP G G A TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 5 45262430 45262430 G A SNP HCN1 ENST00000303230 human ensembl 74_37 -1 known nonsense c.2266 p.Q756* 0.991 NULL pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG - no_errors HCN1 HGNC ENSG00000164588 tier1 - - 45 0 0.00 37 8 17.78 HECTD4 0 genome.wustl.edu 37 12 112654172 112654172 + Silent SNP G G A TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 12 112654172 112654172 G A SNP HECTD4 ENST00000377560 human ensembl 74_37 -1 known silent c.6873 p.N2291 0.991 superfamily_ConA-like_lec_gl_sf pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT - no_errors HECTD4 HGNC ENSG00000173064 tier1 - - 16 0 0.00 18 6 25.00 HELB 0 genome.wustl.edu 37 12 66717794 66717794 + Missense_Mutation SNP G G T TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 12 66717794 66717794 G T SNP HELB ENST00000247815 human ensembl 74_37 +1 known missense c.2329 p.G777C 0.508 superfamily_P-loop_NTPase superfamily_P-loop_NTPase - no_errors HELB HGNC ENSG00000127311 tier1 - - 37 0 0.00 58 9 13.43 HERC2 0 genome.wustl.edu 37 15 28361836 28361836 + Silent SNP C C A TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 15 28361836 28361836 C A SNP HERC2 ENST00000261609 human ensembl 74_37 -1 known silent c.13584 p.V4528 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens - no_errors HERC2 HGNC ENSG00000128731 tier1 - - 32 0 0.00 36 8 18.18 HUNK 0 genome.wustl.edu 37 21 33340686 33340686 + Silent SNP C C G TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 21 33340686 33340686 C G SNP HUNK ENST00000270112 human ensembl 74_37 +1 known silent c.999 p.T333 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors HUNK HGNC ENSG00000142149 tier1 - - 36 0 0.00 36 9 20.00 IL12B 0 genome.wustl.edu 37 5 158749446 158749446 + Silent SNP C C T TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 5 158749446 158749446 C T SNP IL12B ENST00000231228 human ensembl 74_37 -1 known silent c.438 p.T146 0.000 pirsf_IL-12_beta,pfam_IL-12_beta_cen-dom,superfamily_Fibronectin_type3 pirsf_IL-12_beta,pfam_IL-12_beta_cen-dom,superfamily_Fibronectin_type3,smart_Ig_sub2,prints_IL-12_beta,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors IL12B HGNC ENSG00000113302 tier1 - - 28 0 0.00 40 6 13.04 IL23R 0 genome.wustl.edu 37 1 67724329 67724329 + Missense_Mutation SNP G G A TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 1 67724329 67724329 G A SNP IL23R ENST00000347310 human ensembl 74_37 +1 known missense c.1408 p.D470N 0.000 NULL superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL23R HGNC ENSG00000162594 tier1 - - 34 0 0.00 31 4 11.43 ILDR1 0 genome.wustl.edu 37 3 121713102 121713102 + Silent SNP T T C TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 3 121713102 121713102 T C SNP ILDR1 ENST00000344209 human ensembl 74_37 -1 known silent c.705 p.G235 0.999 NULL pfam_LISCH7,smart_Ig_sub - no_errors ILDR1 HGNC ENSG00000145103 tier1 - - 42 0 0.00 48 20 29.41 ISLR 0 genome.wustl.edu 37 15 74468116 74468116 + Missense_Mutation SNP C C A TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 15 74468116 74468116 C A SNP ISLR ENST00000249842 human ensembl 74_37 +1 known missense c.917 p.A306D 1.000 pfam_Ig_I-set,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Leu-rich_rpt,pfam_Ig_I-set,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors ISLR HGNC ENSG00000129009 30 0 0.00 31 4 11.43 JDP2 0 genome.wustl.edu 37 14 75904609 75904609 + Missense_Mutation SNP G G T TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 14 75904609 75904609 G T SNP JDP2 ENST00000267569 human ensembl 74_37 +1 known missense c.19 p.A7S 0.015 NULL pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos - no_errors JDP2 HGNC ENSG00000140044 tier1 - - 44 0 0.00 59 4 6.35 KCNAB1 0 genome.wustl.edu 37 3 156254522 156254522 + Missense_Mutation SNP G G C TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 3 156254522 156254522 G C SNP KCNAB1 ENST00000490337 human ensembl 74_37 +1 known missense c.1246 p.D416H 1.000 NULL pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_K_chnl_volt-dep_bsu_KCNAB-rel,prints_K_chnl_volt-dep_bsu_KCNAB1,prints_K_chnl_volt-dep_bsu_KCNAB3,tigrfam_K_chnl_volt-dep_bsu_KCNAB - no_errors KCNAB1 HGNC ENSG00000169282 tier1 - - 64 0 0.00 115 12 9.45 KCNG1 0 genome.wustl.edu 37 20 49626850 49626850 + Missense_Mutation SNP G G T TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 20 49626850 49626850 G T SNP KCNG1 ENST00000371571 human ensembl 74_37 -1 known missense c.26 p.S9Y 1.000 NULL pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCNG1 HGNC ENSG00000026559 tier1 - - 43 0 0.00 64 5 7.25 KCNQ2 0 genome.wustl.edu 37 20 62038650 62038650 + Missense_Mutation SNP C C G TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 20 62038650 62038650 C G SNP KCNQ2 ENST00000354587 human ensembl 74_37 -1 known missense c.1990 p.E664Q 1.000 pfam_K_chnl_volt-dep_KCNQ_C pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ2,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ2 HGNC ENSG00000075043 tier1 - - 48 0 0.00 49 11 18.33 KCNQ3 0 genome.wustl.edu 37 8 133192457 133192457 + Missense_Mutation SNP G G A TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 8 133192457 133192457 G A SNP KCNQ3 ENST00000388996 human ensembl 74_37 -1 known missense c.724 p.R242W 1.000 pfam_Ion_trans_dom,prints_K_chnl pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ3,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ3 HGNC ENSG00000184156 tier1 - - 45 0 0.00 42 7 14.29 KDM2A 0 genome.wustl.edu 37 11 67023301 67023301 + RNA SNP C C T TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 11 67023301 67023301 C T SNP KDM2A ENST00000524657 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors KDM2A HGNC ENSG00000173120 tier1 - - 45 0 0.00 37 7 15.91 KDM6A 0 genome.wustl.edu 37 X 44950110 44950110 + Splice_Site SNP G G A TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 X 44950110 44950110 G A SNP KDM6A ENST00000382899 human ensembl 74_37 +1 known splice_site c.3899+1 e26+1 1.000 - - - no_errors KDM6A HGNC ENSG00000147050 tier1 - - 36 0 0.00 16 15 48.39 KIF18A 0 genome.wustl.edu 37 11 28080629 28080629 + Missense_Mutation SNP C C T TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 11 28080629 28080629 C T SNP KIF18A ENST00000263181 human ensembl 74_37 -1 known missense c.1792 p.E598K 0.999 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF18A HGNC ENSG00000121621 tier1 - - 65 0 0.00 60 16 21.05 KIF5C 0 genome.wustl.edu 37 2 149854940 149854940 + Silent SNP C C T TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 2 149854940 149854940 C T SNP KIF5C ENST00000435030 human ensembl 74_37 +1 known silent c.2127 p.S709 0.998 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIF5C HGNC ENSG00000168280 tier1 - - 47 0 0.00 39 4 9.30 KIR2DL2 0 genome.wustl.edu 37 GL000209.1 35619 35619 + Missense_Mutation SNP G G T TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 GL000209.1 35619 35619 G T SNP KIR2DL2 ENST00000344867 human ensembl 74_37 +1 known missense c.826 p.V276L NULL NULL pfam_Immunoglobulin,smart_Ig_sub - no_errors KIR2DL2 HGNC ENSG00000215764 tier1 - - 86 0 0.00 43 44 49.44 KLHL1 0 genome.wustl.edu 37 13 70514337 70514337 + Silent SNP C C T TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 13 70514337 70514337 C T SNP KLHL1 ENST00000377844 human ensembl 74_37 -1 known silent c.849 p.E283 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHL1 HGNC ENSG00000150361 tier1 - - 45 0 0.00 29 18 38.30 KMT2A 0 genome.wustl.edu 37 11 118380790 118380790 + Missense_Mutation SNP T T G TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 11 118380790 118380790 T G SNP KMT2A ENST00000389506 human ensembl 74_37 +1 known missense c.11019 p.I3673M 1.000 pfam_FYrich_C,smart_FYrich_C,pirsf_MeTrfase_trithorax pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain - no_errors KMT2A HGNC ENSG00000118058 tier1 - - 27 0 0.00 22 3 12.00 KRT1 0 genome.wustl.edu 37 12 53069189 53069190 + In_Frame_Ins INS - - GCC TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 12 53069189 53069190 - GCC INS KRT1 ENST00000252244 human ensembl 74_37 -1 known in_frame_ins c.1723_1722 p.574in_frame_insG 0.358:0.643 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT1 HGNC ENSG00000167768 tier1 37 0 0.00 27 6 18.18 KRTAP9-3 0 genome.wustl.edu 37 17 39389161 39389161 + Missense_Mutation SNP G G C TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 17 39389161 39389161 G C SNP KRTAP9-3 ENST00000411528 human ensembl 74_37 +1 known missense c.408 p.E136D 0.119 NULL NULL - no_errors KRTAP9-3 HGNC ENSG00000204873 tier1 - - 157 0 0.00 146 29 16.48 LEPRE1 0 genome.wustl.edu 37 1 43228119 43228119 + Missense_Mutation SNP C C T TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 1 43228119 43228119 C T SNP LEPRE1 ENST00000236040 human ensembl 74_37 -1 known missense c.493 p.A165T 0.999 NULL pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors LEPRE1 HGNC ENSG00000117385 tier1 - - 34 0 0.00 67 4 5.63 LGALS9C 0 genome.wustl.edu 37 17 18390984 18390984 + Silent SNP C C T TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 17 18390984 18390984 C T SNP LGALS9C ENST00000328114 human ensembl 74_37 +1 known silent c.357 p.F119 0.011 pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD - no_errors LGALS9C HGNC ENSG00000171916 13 0 0.00 16 6 27.27 LILRA2 0 genome.wustl.edu 37 19 55085970 55085970 + Silent SNP C C T TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 19 55085970 55085970 C T SNP LILRA2 ENST00000251377 human ensembl 74_37 +1 known silent c.273 p.H91 0.004 smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like_dom smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like_dom - no_errors LILRA2 HGNC ENSG00000239998 tier1 - - 90 0 0.00 89 10 10.10 LIMK2 0 genome.wustl.edu 37 22 31656020 31656020 + Missense_Mutation SNP G G C TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 22 31656020 31656020 G C SNP LIMK2 ENST00000331728 human ensembl 74_37 +1 known missense c.508 p.E170Q 0.999 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Znf_LIM,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_PDZ,smart_Znf_LIM,smart_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_LIM,pfscan_PDZ,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors LIMK2 HGNC ENSG00000182541 tier1 - - 25 0 0.00 25 5 16.67 LINC00671 0 genome.wustl.edu 37 17 41031648 41031648 + RNA SNP C C T TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 17 41031648 41031648 C T SNP LINC00671 ENST00000301683 human ensembl 74_37 -1 known rna NULL NULL 0.009 - - - no_errors LINC00671 HGNC ENSG00000213373 tier1 - - 56 0 0.00 73 9 10.98 LINC00937 0 genome.wustl.edu 37 12 8537891 8537891 + RNA SNP G G A TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 12 8537891 8537891 G A SNP LINC00937 ENST00000538304 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors LINC00937 HGNC ENSG00000226091 27 0 0.00 22 5 18.52 LINC00969 0 genome.wustl.edu 37 3 195393119 195393119 + RNA SNP A A T TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 3 195393119 195393119 A T SNP LINC00969 ENST00000457233 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors LINC00969 HGNC ENSG00000242086 62 0 0.00 124 9 6.77 LOC100130849 0 genome.wustl.edu 37 7 56945092 56945092 + RNA SNP G G T TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 7 56945092 56945092 G T SNP LOC100130849 ENST00000448242 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RP13-580B18.1 Clone_based_vega_gene ENSG00000233437 tier1 - - 46 0 0.00 38 9 19.15 LRRC47 0 genome.wustl.edu 37 1 3699225 3699226 + Frame_Shift_Ins INS - - T TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 1 3699225 3699226 - T INS LRRC47 ENST00000378251 human ensembl 74_37 -1 known frame_shift_ins c.1413_1412 p.V472fs 1.000:1.000 pfam_B3/B4_tRNA-bd,smart_B3/B4_tRNA-bd pfam_Leu-rich_rpt,pfam_B3/B4_tRNA-bd,smart_Leu-rich_rpt_typical-subtyp,smart_B3/B4_tRNA-bd - no_errors LRRC47 HGNC ENSG00000130764 tier1 67 0 0.00 68 15 18.07 MAB21L1 0 genome.wustl.edu 37 13 36049877 36049877 + Silent SNP C C T TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 13 36049877 36049877 C T SNP MAB21L1 ENST00000379919 human ensembl 74_37 -1 known silent c.399 p.Q133 1.000 pfam_Mab-21_dom pfam_Mab-21_dom - no_errors MAB21L1 HGNC ENSG00000180660 26 0 0.00 19 3 13.64 MAGEL2 0 genome.wustl.edu 37 15 23890125 23890125 + Missense_Mutation SNP C C A TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 15 23890125 23890125 C A SNP MAGEL2 ENST00000532292 human ensembl 74_37 -1 known missense c.956 p.W319L 0.998 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEL2 HGNC ENSG00000254585 tier1 - - 46 0 0.00 47 16 25.40 MALAT1 0 genome.wustl.edu 37 11 65272188 65272189 + RNA DEL TA TA - TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 TA TA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 11 65272188 65272189 TA - DEL MALAT1 ENST00000534336 human ensembl 74_37 +1 known rna NULL NULL 0.115:0.326 - - - no_errors MALAT1 HGNC ENSG00000251562 tier1 63 0 0.00 111 13 10.48 MAML1 0 genome.wustl.edu 37 5 179192752 179192752 + Missense_Mutation SNP C C G TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 5 179192752 179192752 C G SNP MAML1 ENST00000292599 human ensembl 74_37 +1 known missense c.741 p.N247K 0.989 NULL pfam_Neuroggenic_mastermind-like_N - no_errors MAML1 HGNC ENSG00000161021 27 0 0.00 21 2 8.70 MAML3 0 genome.wustl.edu 37 4 140811099 140811099 + Silent SNP C C T TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 4 140811099 140811099 C T SNP MAML3 ENST00000509479 human ensembl 74_37 -1 known silent c.1491 p.Q497 0.995 NULL pfam_Neuroggenic_mastermind-like_N - no_errors MAML3 HGNC ENSG00000196782 30 0 0.00 47 3 6.00 MAPKBP1 0 genome.wustl.edu 37 15 42116141 42116141 + Missense_Mutation SNP G G T TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 15 42116141 42116141 G T SNP MAPKBP1 ENST00000456763 human ensembl 74_37 +1 known missense c.4113 p.Q1371H 0.989 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors MAPKBP1 HGNC ENSG00000137802 tier1 - - 69 0 0.00 27 21 43.75 MARCKSL1 0 genome.wustl.edu 37 1 32800284 32800284 + Missense_Mutation SNP C C G TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 1 32800284 32800284 C G SNP MARCKSL1 ENST00000329421 human ensembl 74_37 -1 known missense c.502 p.E168Q 1.000 pfam_MARCKS pfam_MARCKS,prints_MARCKS - no_errors MARCKSL1 HGNC ENSG00000175130 tier1 - - 138 0 0.00 139 10 6.71 MATN2 0 genome.wustl.edu 37 8 98973737 98973737 + Missense_Mutation SNP G G C TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 8 98973737 98973737 G C SNP MATN2 ENST00000254898 human ensembl 74_37 +1 known missense c.937 p.E313Q 0.938 pfam_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom pfam_VWF_A,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_Matrilin_coiled-coil_trimer,smart_VWF_A,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_VWF_A - no_errors MATN2 HGNC ENSG00000132561 tier1 - - 52 0 0.00 75 12 13.64 MCPH1 0 genome.wustl.edu 37 8 6302198 6302198 + Missense_Mutation SNP G G T TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 8 6302198 6302198 G T SNP MCPH1 ENST00000344683 human ensembl 74_37 +1 known missense c.955 p.A319S 0.000 pfam_Microcephalin pfam_Microcephalin,pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom,prints_BRCA1 - no_errors MCPH1 HGNC ENSG00000147316 17 0 0.00 17 2 10.53 MGAT5B 0 genome.wustl.edu 37 17 74944059 74944059 + Missense_Mutation SNP G G T TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 17 74944059 74944059 G T SNP MGAT5B ENST00000428789 human ensembl 74_37 +1 known missense c.2098 p.A700S 1.000 NULL superfamily_PyrdxlP-dep_Trfase - no_errors MGAT5B HGNC ENSG00000167889 27 0 0.00 35 10 22.22 MIER3 0 genome.wustl.edu 37 5 56233470 56233470 + Missense_Mutation SNP G G T TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 5 56233470 56233470 G T SNP MIER3 ENST00000381199 human ensembl 74_37 -1 known missense c.371 p.A124E 1.000 NULL pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom - no_errors MIER3 HGNC ENSG00000155545 18 0 0.00 26 2 7.14 MIR519D 0 genome.wustl.edu 37 19 54216635 54216635 + RNA SNP C C T TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 19 54216635 54216635 C T SNP MIR519D ENST00000385246 human ensembl 74_37 +1 known rna NULL NULL 0.016 - - - no_errors MIR519D HGNC ENSG00000207981 tier1 - - 92 0 0.00 105 15 12.50 MT-RNR1 0 genome.wustl.edu 37 MT 709 709 + RNA SNP G G A TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 MT 709 709 G A SNP MT-RNR1 ENST00000389680 human ensembl 74_37 +1 known rna NULL NULL NULL - - - no_errors MT-RNR1 HGNC ENSG00000211459 tier1 rs2853517 - 208 0 0.00 99 311 75.85 MT-TY 0 genome.wustl.edu 37 MT 5864 5864 + RNA SNP G G C TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 MT 5864 5864 G C SNP MT-TY ENST00000387409 human ensembl 74_37 -1 known rna NULL NULL NULL - - - no_errors MT-TY HGNC ENSG00000210144 tier1 - - 45 0 0.00 31 34 52.31 MTMR10 0 genome.wustl.edu 37 15 31266646 31266646 + Silent SNP C C T TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 15 31266646 31266646 C T SNP MTMR10 ENST00000435680 human ensembl 74_37 -1 known silent c.345 p.K115 1.000 NULL pfam_Myotubularin_assoc,pfam_Myotubularin-like_Pase_dom - no_errors MTMR10 HGNC ENSG00000166912 tier1 - - 42 0 0.00 32 10 23.81 MYBPC3 0 genome.wustl.edu 37 11 47372796 47372796 + Missense_Mutation SNP C C T TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 11 47372796 47372796 C T SNP MYBPC3 ENST00000399249 human ensembl 74_37 -1 known missense c.286 p.E96K 1.000 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYBPC3 HGNC ENSG00000134571 tier1 - - 46 0 0.00 38 8 17.39 MYH10 0 genome.wustl.edu 37 17 8380347 8380347 + Missense_Mutation SNP C C T TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 17 8380347 8380347 C T SNP MYH10 ENST00000396239 human ensembl 74_37 -1 known missense c.5696 p.R1899Q 1.000 pfam_Myosin_tail,superfamily_HR1_rho-bd pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH10 HGNC ENSG00000133026 30 0 0.00 27 4 12.90 MYH13 0 genome.wustl.edu 37 17 10227347 10227347 + Missense_Mutation SNP C C T TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 17 10227347 10227347 C T SNP MYH13 ENST00000252172 human ensembl 74_37 -1 known missense c.2926 p.E976K 1.000 NULL 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 - - 165 0 0.00 141 30 17.54 MYLK 0 genome.wustl.edu 37 3 123453016 123453016 + Missense_Mutation SNP G G T TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 3 123453016 123453016 G T SNP MYLK ENST00000360304 human ensembl 74_37 -1 known missense c.827 p.T276N 0.685 NULL pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,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 MYLK HGNC ENSG00000065534 15 0 0.00 32 4 11.11 N4BP2L2 0 genome.wustl.edu 37 13 33017928 33017928 + Missense_Mutation SNP G G A TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 13 33017928 33017928 G A SNP N4BP2L2 ENST00000399396 human ensembl 74_37 -1 known missense c.746 p.P249L 0.046 NULL superfamily_P-loop_NTPase - no_errors N4BP2L2 HGNC ENSG00000244754 tier1 - - 41 0 0.00 28 10 26.32 NACA2 0 genome.wustl.edu 37 17 59668318 59668318 + Missense_Mutation SNP C C T TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 17 59668318 59668318 C T SNP NACA2 ENST00000521764 human ensembl 74_37 -1 known missense c.224 p.R75K 1.000 pfam_Nas_poly-pep-assoc_cplx_dom,pirsf_EGD2/NACA,pfscan_Nas_poly-pep-assoc_cplx_dom pfam_Nas_poly-pep-assoc_cplx_dom,superfamily_UBA-like,pirsf_EGD2/NACA,pfscan_Nas_poly-pep-assoc_cplx_dom - no_errors NACA2 HGNC ENSG00000253506 tier1 - - 96 0 0.00 126 15 10.64 NACA2 0 genome.wustl.edu 37 17 59668349 59668349 + Missense_Mutation SNP C C T TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 17 59668349 59668349 C T SNP NACA2 ENST00000521764 human ensembl 74_37 -1 known missense c.193 p.G65S 1.000 pirsf_EGD2/NACA pfam_Nas_poly-pep-assoc_cplx_dom,superfamily_UBA-like,pirsf_EGD2/NACA,pfscan_Nas_poly-pep-assoc_cplx_dom - no_errors NACA2 HGNC ENSG00000253506 tier1 - - 104 0 0.00 130 13 9.09 NACA2 0 genome.wustl.edu 37 17 59667899 59667899 + Missense_Mutation SNP C C T TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 17 59667899 59667899 C T SNP NACA2 ENST00000521764 human ensembl 74_37 -1 known missense c.643 p.V215M 0.097 pirsf_EGD2/NACA pfam_Nas_poly-pep-assoc_cplx_dom,superfamily_UBA-like,pirsf_EGD2/NACA,pfscan_Nas_poly-pep-assoc_cplx_dom - no_errors NACA2 HGNC ENSG00000253506 82 0 0.00 91 6 6.19 NACA2 0 genome.wustl.edu 37 17 59668285 59668285 + Missense_Mutation SNP A A C TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 17 59668285 59668285 A C SNP NACA2 ENST00000521764 human ensembl 74_37 -1 known missense c.257 p.L86R 1.000 pfam_Nas_poly-pep-assoc_cplx_dom,pirsf_EGD2/NACA,pfscan_Nas_poly-pep-assoc_cplx_dom pfam_Nas_poly-pep-assoc_cplx_dom,superfamily_UBA-like,pirsf_EGD2/NACA,pfscan_Nas_poly-pep-assoc_cplx_dom - no_errors NACA2 HGNC ENSG00000253506 93 0 0.00 119 15 11.19 NACA2 0 genome.wustl.edu 37 17 59668536 59668536 + Silent SNP C C G TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 17 59668536 59668536 C G SNP NACA2 ENST00000521764 human ensembl 74_37 -1 known silent c.6 p.P2 0.996 NULL pfam_Nas_poly-pep-assoc_cplx_dom,superfamily_UBA-like,pirsf_EGD2/NACA,pfscan_Nas_poly-pep-assoc_cplx_dom - no_errors NACA2 HGNC ENSG00000253506 51 0 0.00 74 5 6.33 NAV3 0 genome.wustl.edu 37 12 78225248 78225248 + Missense_Mutation SNP G G C TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 12 78225248 78225248 G C SNP NAV3 ENST00000397909 human ensembl 74_37 +1 known missense c.7 p.V3L 1.000 superfamily_CH-domain pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV3 HGNC ENSG00000067798 tier1 - - 20 0 0.00 27 6 18.18 NLGN1 0 genome.wustl.edu 37 3 173525560 173525560 + Missense_Mutation SNP G G T TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 3 173525560 173525560 G T SNP NLGN1 ENST00000401917 human ensembl 74_37 +1 known missense c.704 p.S235I 1.000 pfam_CarbesteraseB,pfam_AB_hydrolase_3 pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN1 HGNC ENSG00000169760 18 0 0.00 34 4 10.53 NPBWR1 0 genome.wustl.edu 37 8 53852501 53852501 + Missense_Mutation SNP G G A TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 8 53852501 53852501 G A SNP NPBWR1 ENST00000331251 human ensembl 74_37 +1 known missense c.34 p.A12T 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Neuropept_B/W_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_Opioid_rcpt - no_errors NPBWR1 HGNC ENSG00000183729 29 0 0.00 44 3 6.38 NR2E3 0 genome.wustl.edu 37 15 72105936 72105936 + RNA SNP G G A TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 15 72105936 72105936 G A SNP NR2E3 ENST00000326995 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors NR2E3 HGNC ENSG00000031544 tier1 - - 26 0 0.00 27 8 22.86 NRBP1 0 genome.wustl.edu 37 2 27662714 27662714 + Missense_Mutation SNP G G C TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 2 27662714 27662714 G C SNP NRBP1 ENST00000233557 human ensembl 74_37 +1 known missense c.985 p.E329Q 1.000 NULL 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 NRBP1 HGNC ENSG00000115216 tier1 - - 39 0 0.00 45 15 25.00 NUGGC 0 genome.wustl.edu 37 8 27898648 27898648 + Missense_Mutation SNP C C T TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 8 27898648 27898648 C T SNP NUGGC ENST00000341513 human ensembl 74_37 -1 known missense c.1531 p.A511T 0.911 NULL pfam_Dynamin_GTPase,superfamily_P-loop_NTPase - no_errors NUGGC HGNC ENSG00000189233 34 0 0.00 26 3 10.34 NXPH1 0 genome.wustl.edu 37 7 8791241 8791241 + Missense_Mutation SNP C C A TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 7 8791241 8791241 C A SNP NXPH1 ENST00000405863 human ensembl 74_37 +1 known missense c.658 p.Q220K 1.000 pfam_NXPH/NXPE,pirsf_Neurexophilin pfam_NXPH/NXPE,pirsf_Neurexophilin - no_errors NXPH1 HGNC ENSG00000122584 tier1 - - 34 0 0.00 45 9 16.67 ODF3L2 0 genome.wustl.edu 37 19 472424 472424 + Missense_Mutation SNP C C T TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 19 472424 472424 C T SNP ODF3L2 ENST00000315489 human ensembl 74_37 -1 known missense c.205 p.A69T 0.998 NULL pfam_SHIPPO-rpt - no_errors ODF3L2 HGNC ENSG00000181781 tier1 - - 109 0 0.00 66 11 14.29 OR1L1 0 genome.wustl.edu 37 9 125424367 125424367 + Missense_Mutation SNP G G T TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 9 125424367 125424367 G T SNP OR1L1 ENST00000373686 human ensembl 74_37 +1 known missense c.523 p.A175S 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1L1 HGNC ENSG00000173679 tier1 - - 94 0 0.00 88 17 16.19 OR2D3 0 genome.wustl.edu 37 11 6943135 6943135 + Missense_Mutation SNP G G C TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 11 6943135 6943135 G C SNP OR2D3 ENST00000317834 human ensembl 74_37 +1 known missense c.903 p.L301F 0.896 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2D3 HGNC ENSG00000178358 tier1 - - 43 0 0.00 61 10 14.08 OR2T6 0 genome.wustl.edu 37 1 248550980 248550980 + Missense_Mutation SNP C C T TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 1 248550980 248550980 C T SNP OR2T6 ENST00000355728 human ensembl 74_37 +1 known missense c.71 p.S24L 0.000 NULL pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR2T6 HGNC ENSG00000198104 tier1 - - 25 0 0.00 39 10 20.41 OR4C5 0 genome.wustl.edu 37 11 48387751 48387751 + Missense_Mutation SNP G G T TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 11 48387751 48387751 G T SNP OR4C5 ENST00000319813 human ensembl 74_37 -1 known missense c.267 p.F89L 0.035 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C5 HGNC ENSG00000176540 tier1 - - 33 0 0.00 37 6 13.95 OR5T3 0 genome.wustl.edu 37 11 56020238 56020250 + Frame_Shift_Del DEL TACATATAGTGGC TACATATAGTGGC - TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 TACATATAGTGGC TACATATAGTGGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 11 56020238 56020250 TACATATAGTGGC 0 DEL OR5T3 ENST00000303059 human ensembl 74_37 +1 known frame_shift_del c.563_575 p.I190fs 0.007:0.000:0.000:0.000:0.000:0.002:0.002:0.000:0.000:0.000:0.000:0.000:0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5T3 HGNC ENSG00000172489 116 0 0.00 121 8 6.20 OR5W2 0 genome.wustl.edu 37 11 55681251 55681251 + Missense_Mutation SNP G G T TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 11 55681251 55681251 G T SNP OR5W2 ENST00000344514 human ensembl 74_37 -1 known missense c.808 p.Q270K 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5W2 HGNC ENSG00000187612 tier1 - - 32 0 0.00 24 10 29.41 OTOA 0 genome.wustl.edu 37 16 21726332 21726332 + Silent SNP G G A TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 16 21726332 21726332 G A SNP OTOA ENST00000286149 human ensembl 74_37 +1 known silent c.1389 p.Q463 1.000 NULL NULL - no_errors OTOA HGNC ENSG00000155719 tier1 - - 40 0 0.00 57 5 8.06 PABPC3 0 genome.wustl.edu 37 13 25671027 25671027 + Missense_Mutation SNP A A G TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 13 25671027 25671027 A G SNP PABPC3 ENST00000281589 human ensembl 74_37 +1 known missense c.691 p.K231E 0.999 pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234 pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234 - no_errors PABPC3 HGNC ENSG00000151846 tier1 rs78826513 - 55 0 0.00 36 5 12.20 PAPPA2 0 genome.wustl.edu 37 1 176526316 176526316 + Silent SNP G G A TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 1 176526316 176526316 G A SNP PAPPA2 ENST00000367662 human ensembl 74_37 +1 known silent c.858 p.A286 1.000 superfamily_ConA-like_lec_gl_sf,smart_LamG-like pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA2 HGNC ENSG00000116183 tier1 - - 52 0 0.00 77 8 9.41 PCDH15 0 genome.wustl.edu 37 10 56077074 56077074 + Missense_Mutation SNP C C T TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 10 56077074 56077074 C T SNP PCDH15 ENST00000320301 human ensembl 74_37 -1 known missense c.833 p.R278H 0.983 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 tier1 - - 45 0 0.00 71 4 5.33 PCDH17 0 genome.wustl.edu 37 13 58208621 58208621 + Silent SNP G G A TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 13 58208621 58208621 G A SNP PCDH17 ENST00000377918 human ensembl 74_37 +1 known silent c.1941 p.T647 0.990 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 PCDH17 HGNC ENSG00000118946 tier1 - - 16 0 0.00 7 4 36.36 PCDHA7 0 genome.wustl.edu 37 5 140215259 140215259 + Missense_Mutation SNP G G T TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 5 140215259 140215259 G T SNP PCDHA7 ENST00000525929 human ensembl 74_37 +1 known missense c.1291 p.G431C 0.990 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 - - 128 0 0.00 150 29 16.20 PCDHA9 0 genome.wustl.edu 37 5 140228251 140228251 + Silent SNP G G A TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 5 140228251 140228251 G A SNP PCDHA9 ENST00000532602 human ensembl 74_37 +1 known silent c.171 p.A57 0.005 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA9 HGNC ENSG00000204961 tier1 - - 74 0 0.00 85 18 17.48 PCLO 0 genome.wustl.edu 37 7 82579600 82579600 + Missense_Mutation SNP C C T TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 7 82579600 82579600 C T SNP PCLO ENST00000333891 human ensembl 74_37 -1 known missense c.10304 p.R3435Q 0.069 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 tier1 - - 74 0 0.00 85 11 11.46 PDE1B 0 genome.wustl.edu 37 12 54967206 54967206 + Nonsense_Mutation SNP C C T TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 12 54967206 54967206 C T SNP PDE1B ENST00000243052 human ensembl 74_37 +1 known nonsense c.904 p.R302* 1.000 pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase pfam_PDEase_catalytic_dom,pfam_PDEase_N,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE1B HGNC ENSG00000123360 tier1 - - 30 0 0.00 23 13 36.11 PGBD5 0 genome.wustl.edu 37 1 230468761 230468761 + Missense_Mutation SNP C C T TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 1 230468761 230468761 C T SNP PGBD5 ENST00000321327 human ensembl 74_37 -1 known missense c.1192 p.A398T 0.644 NULL NULL - no_errors PGBD5 HGNC ENSG00000177614 tier1 - - 71 0 0.00 91 19 17.27 PITRM1 0 genome.wustl.edu 37 10 3212331 3212331 + Missense_Mutation SNP G G C TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 10 3212331 3212331 G C SNP PITRM1 ENST00000380989 human ensembl 74_37 -1 known missense c.124 p.L42V 0.000 superfamily_Metalloenz_LuxS/M16 pfam_Peptidase_M16C_assoc,pfam_Peptidase_M16_C,pfam_Pept_M16_N,superfamily_Metalloenz_LuxS/M16 - no_errors PITRM1 HGNC ENSG00000107959 tier1 - - 59 0 0.00 72 7 8.86 PLOD2 0 genome.wustl.edu 37 3 145806375 145806375 + Missense_Mutation SNP T T C TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 3 145806375 145806375 T C SNP PLOD2 ENST00000282903 human ensembl 74_37 -1 known missense c.1003 p.K335E 1.000 NULL pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors PLOD2 HGNC ENSG00000152952 tier1 - - 22 0 0.00 55 14 20.29 PLXND1 0 genome.wustl.edu 37 3 129290394 129290394 + Missense_Mutation SNP C C G TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 3 129290394 129290394 C G SNP PLXND1 ENST00000324093 human ensembl 74_37 -1 known missense c.3294 p.Q1098H 1.000 pfam_IPT,superfamily_Ig_E-set,smart_IPT pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXND1 HGNC ENSG00000004399 34 0 0.00 49 6 10.91 PNMAL2 0 genome.wustl.edu 37 19 46995440 46995440 + Missense_Mutation SNP G G A TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 19 46995440 46995440 G A SNP PNMAL2 ENST00000377655 human ensembl 74_37 -1 known missense c.739 p.P247S 0.007 NULL NULL - no_errors PNMAL2 HGNC ENSG00000204851 tier1 - - 48 0 0.00 36 13 26.53 PPL 0 genome.wustl.edu 37 16 4938211 4938211 + Silent SNP C C T TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 16 4938211 4938211 C T SNP PPL ENST00000345988 human ensembl 74_37 -1 known silent c.2406 p.E802 0.580 smart_Spectrin/alpha-actinin pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors PPL HGNC ENSG00000118898 tier1 - - 57 0 0.00 54 13 19.12 PPP3R2 0 genome.wustl.edu 37 9 104356900 104356900 + Missense_Mutation SNP C C T TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 9 104356900 104356900 C T SNP PPP3R2 ENST00000374806 human ensembl 74_37 -1 known missense c.313 p.D105N 1.000 smart_EF_hand_dom,pfscan_EF_hand_dom pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin - no_errors PPP3R2 HGNC ENSG00000188386 tier1 - - 52 0 0.00 42 8 16.00 PREX1 0 genome.wustl.edu 37 20 47248873 47248873 + Nonsense_Mutation SNP G G T TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 20 47248873 47248873 G T SNP PREX1 ENST00000396220 human ensembl 74_37 -1 known nonsense c.4572 p.C1524* 1.000 NULL pfam_DH-domain,pfam_DEP_dom,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX1 HGNC ENSG00000124126 tier1 - - 61 0 0.00 78 14 15.22 PRKCG 0 genome.wustl.edu 37 19 54407957 54407957 + Silent SNP C C G TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 19 54407957 54407957 C G SNP PRKCG ENST00000540413 human ensembl 74_37 +1 known silent c.1725 p.P575 1.000 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,pirsf_Protein_kinase_C_a/b/g,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,prints_DAG/PE-bd,prints_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors PRKCG HGNC ENSG00000126583 tier1 - - 29 0 0.00 34 4 10.53 PRX 0 genome.wustl.edu 37 19 40902249 40902249 + Missense_Mutation SNP C C A TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 19 40902249 40902249 C A SNP PRX ENST00000324001 human ensembl 74_37 -1 known missense c.2010 p.M670I 0.022 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PRX HGNC ENSG00000105227 tier1 - - 27 0 0.00 46 8 14.81 PTPN5 0 genome.wustl.edu 37 11 18751321 18751321 + Silent SNP G G T TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 11 18751321 18751321 G T SNP PTPN5 ENST00000358540 human ensembl 74_37 -1 known silent c.1374 p.S458 0.997 pirsf_Tyr_Pase_rcpt_R/non-rcpt_5,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pirsf_Tyr_Pase_rcpt_R/non-rcpt_5,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_KIM-con,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN5 HGNC ENSG00000110786 34 0 0.00 33 2 5.71 PVRL1 0 genome.wustl.edu 37 11 119549379 119549379 + Missense_Mutation SNP C C A TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 11 119549379 119549379 C A SNP PVRL1 ENST00000264025 human ensembl 74_37 -1 known missense c.176 p.S59I 0.000 pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_CD80_C2-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors PVRL1 HGNC ENSG00000110400 30 0 0.00 25 2 7.41 PZP 0 genome.wustl.edu 37 12 9354962 9354962 + Missense_Mutation SNP A A G TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 12 9354962 9354962 A G SNP PZP ENST00000261336 human ensembl 74_37 -1 known missense c.433 p.F145L 0.004 pfam_A2M_N pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_SV_autoAg,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd - no_errors PZP HGNC ENSG00000126838 tier1 - - 57 0 0.00 51 11 17.74 QPCTL 0 genome.wustl.edu 37 19 46196806 46196806 + Missense_Mutation SNP G G T TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 19 46196806 46196806 G T SNP QPCTL ENST00000012049 human ensembl 74_37 +1 known missense c.343 p.V115F 1.000 NULL pfam_Peptidase_M28 - no_errors QPCTL HGNC ENSG00000011478 36 0 0.00 38 2 5.00 RAB11FIP1 0 genome.wustl.edu 37 8 37730432 37730432 + Missense_Mutation SNP A A T TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 8 37730432 37730432 A T SNP RAB11FIP1 ENST00000330843 human ensembl 74_37 -1 known missense c.1888 p.L630M 0.000 NULL pfam_Rab-bd_FIP-RBD,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors RAB11FIP1 HGNC ENSG00000156675 tier1 - - 23 0 0.00 49 31 38.75 RAD54L 0 genome.wustl.edu 37 1 46733163 46733163 + Silent SNP T T A TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 1 46733163 46733163 T A SNP RAD54L ENST00000371975 human ensembl 74_37 +1 known silent c.924 p.T308 0.843 pfam_SNF2_N,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_SNF2_N,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,pfam_Rad54_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors RAD54L HGNC ENSG00000085999 tier1 - - 30 0 0.00 19 8 29.63 RBBP7 0 genome.wustl.edu 37 X 16864049 16864050 + Frame_Shift_Del DEL CT CT - TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 X 16864049 16864050 CT - DEL RBBP7 ENST00000380087 human ensembl 74_37 -1 known frame_shift_del c.1111_1110 p.G371fs 1.000:1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_Histone-bd_RBBP4_N,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors RBBP7 HGNC ENSG00000102054 tier1 17 0 0.00 16 5 23.81 RBM19 0 genome.wustl.edu 37 12 114400104 114400104 + Missense_Mutation SNP G G A TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 12 114400104 114400104 G A SNP RBM19 ENST00000261741 human ensembl 74_37 -1 known missense c.152 p.S51F 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom - no_errors RBM19 HGNC ENSG00000122965 tier1 - - 43 0 0.00 40 13 24.53 RBM24 0 genome.wustl.edu 37 6 17292449 17292449 + RNA DEL A A - TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 6 17292449 17292449 A - DEL RBM24 ENST00000508508 human ensembl 74_37 +1 known rna NULL NULL 0.915 - - - no_errors RBM24 HGNC ENSG00000112183 tier1 14 0 0.00 10 3 23.08 RBMXL3 0 genome.wustl.edu 37 X 114425871 114425871 + Missense_Mutation SNP C C T TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 X 114425871 114425871 C T SNP RBMXL3 ENST00000424776 human ensembl 74_37 +1 known missense c.1867 p.R623C 0.094 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBMXL3 HGNC ENSG00000175718 tier1 - - 62 0 0.00 62 20 24.39 RDX 0 genome.wustl.edu 37 11 110104066 110104066 + Missense_Mutation SNP C C G TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 11 110104066 110104066 C G SNP RDX ENST00000530749 human ensembl 74_37 -1 known missense c.1483 p.E495Q 0.996 pirsf_ERM,pfam_ERM_C_dom,superfamily_Moesin_tail pirsf_ERM,pfam_ERM_C_dom,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin_tail,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Band_41_domain,prints_Ez/rad/moesin_like,prints_Band_41_fam,pfscan_FERM_domain - no_errors RDX HGNC ENSG00000137710 tier1 - - 99 0 0.00 85 19 18.27 RELN 0 genome.wustl.edu 37 7 103136182 103136182 + Missense_Mutation SNP C C G TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 7 103136182 103136182 C G SNP RELN ENST00000424685 human ensembl 74_37 -1 known missense c.9357 p.M3119I 1.000 superfamily_Sialidases pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Sialidases,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom - no_errors RELN HGNC ENSG00000189056 tier1 - - 96 0 0.00 250 21 7.75 RHOBTB3 0 genome.wustl.edu 37 5 95128791 95128791 + Missense_Mutation SNP C C A TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 5 95128791 95128791 C A SNP RHOBTB3 ENST00000379982 human ensembl 74_37 +1 known missense c.1749 p.H583Q 1.000 NULL pfam_BTB_POZ,pfam_Small_GTPase,superfamily_BTB/POZ_fold,superfamily_P-loop_NTPase,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors RHOBTB3 HGNC ENSG00000164292 tier1 - - 43 0 0.00 31 17 35.42 RNF19B 0 genome.wustl.edu 37 1 33412087 33412087 + Missense_Mutation SNP A A C TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 1 33412087 33412087 A C SNP RNF19B ENST00000373456 human ensembl 74_37 -1 known missense c.1065 p.I355M 0.999 NULL pfam_Znf_C6HC,smart_Znf_RING,smart_Znf_C6HC,pfscan_Znf_RING - no_errors RNF19B HGNC ENSG00000116514 tier1 - - 30 0 0.00 36 8 18.18 RPS19 0 genome.wustl.edu 37 19 42373777 42373777 + Missense_Mutation SNP A A G TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 19 42373777 42373777 A G SNP RPS19 ENST00000593863 human ensembl 74_37 +1 known missense c.365 p.K122R 1.000 pfam_Ribosomal_S19e pfam_Ribosomal_S19e - no_errors RPS19 HGNC ENSG00000105372 tier1 - - 29 0 0.00 35 10 22.22 RRP7B 0 genome.wustl.edu 37 22 42970598 42970598 + RNA SNP G G T TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 22 42970598 42970598 G T SNP RRP7B ENST00000458605 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RRP7B HGNC ENSG00000182841 22 0 0.00 16 3 15.79 RYR2 0 genome.wustl.edu 37 1 237794736 237794736 + Missense_Mutation SNP G G C TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 1 237794736 237794736 G C SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known missense c.6444 p.M2148I 1.000 pfam_Ca-rel_channel pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 tier1 - - 50 0 0.00 96 8 7.69 RYR2 0 genome.wustl.edu 37 1 237982455 237982455 + Missense_Mutation SNP C C A TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 1 237982455 237982455 C A SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known missense c.14571 p.F4857L 1.000 pfam_Ion_trans_dom pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 tier1 - - 95 0 0.00 131 24 15.48 SATB2 0 genome.wustl.edu 37 2 200213692 200213692 + Missense_Mutation SNP A A T TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 2 200213692 200213692 A T SNP SATB2 ENST00000260926 human ensembl 74_37 -1 known missense c.905 p.L302H 1.000 NULL pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT - no_errors SATB2 HGNC ENSG00000119042 tier1 - - 147 0 0.00 153 23 12.92 SCUBE3 0 genome.wustl.edu 37 6 35211789 35211789 + Silent SNP G G A TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 6 35211789 35211789 G A SNP SCUBE3 ENST00000394681 human ensembl 74_37 +1 known silent c.2169 p.Q723 1.000 pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Growth_fac_rcpt_N_dom pfam_EGF-like_Ca-bd_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EG-like_dom,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom,prints_Thrombomodulin - no_errors SCUBE3 HGNC ENSG00000146197 tier1 - - 43 0 0.00 38 8 17.39 SDK1 0 genome.wustl.edu 37 7 4247736 4247736 + Nonsense_Mutation SNP C C G TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 7 4247736 4247736 C G SNP SDK1 ENST00000404826 human ensembl 74_37 +1 known nonsense c.5220 p.Y1740* 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors SDK1 HGNC ENSG00000146555 tier1 - - 40 0 0.00 90 13 12.50 SEC11A 0 genome.wustl.edu 37 15 85230877 85230877 + Missense_Mutation SNP C C T TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 15 85230877 85230877 C T SNP SEC11A ENST00000268220 human ensembl 74_37 -1 known missense c.290 p.R97Q 1.000 pfam_Peptidase_S24_S26,superfamily_Peptidase_S24_S26A/B/C,tigrfam_Peptidase_S26B pfam_Peptidase_S24_S26,superfamily_Peptidase_S24_S26A/B/C,prints_Peptidase_S26B,tigrfam_Peptidase_S26B - no_errors SEC11A HGNC ENSG00000140612 22 0 0.00 26 2 7.14 SEC62 0 genome.wustl.edu 37 3 169710777 169710777 + Missense_Mutation SNP G G C TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 3 169710777 169710777 G C SNP SEC62 ENST00000337002 human ensembl 74_37 +1 known missense c.1126 p.D376H 1.000 NULL pfam_Sec62,superfamily_ABC1_TM_dom - no_errors SEC62 HGNC ENSG00000008952 20 0 0.00 56 6 9.68 SEPT11 0 genome.wustl.edu 37 4 77949786 77949786 + Nonsense_Mutation SNP C C T TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 4 77949786 77949786 C T SNP SEPT11 ENST00000541121 human ensembl 74_37 +1 known nonsense c.988 p.Q330* 1.000 pirsf_Septin pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase,pirsf_Septin - no_errors SEPT11 HGNC ENSG00000138758 tier1 - - 25 0 0.00 26 6 18.75 SETD1B 0 genome.wustl.edu 37 12 122252029 122252029 + Silent SNP C C T TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 12 122252029 122252029 C T SNP SETD1B ENST00000267197 human ensembl 74_37 +1 known silent c.1908 p.G636 0.135 NULL pfam_COMPASS_Set1_N-SET,pfam_SET_dom,pfam_RRM_dom,smart_RRM_dom,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_RRM_dom - no_errors SETD1B HGNC ENSG00000139718 tier1 - - 37 0 0.00 33 8 19.51 SHANK2 0 genome.wustl.edu 37 11 70348324 70348324 + Missense_Mutation SNP C C A TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 11 70348324 70348324 C A SNP SHANK2 ENST00000338508 human ensembl 74_37 -1 known missense c.2268 p.E756D 1.000 NULL pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain - no_errors SHANK2 HGNC ENSG00000162105 12 0 0.00 97 9 8.41 SHROOM1 0 genome.wustl.edu 37 5 132158683 132158683 + Silent SNP G G A TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 5 132158683 132158683 G A SNP SHROOM1 ENST00000378679 human ensembl 74_37 -1 known silent c.2364 p.V788 0.997 pfam_ASD2 pfam_ASD2,pfam_ASD1 - no_errors SHROOM1 HGNC ENSG00000164403 13 0 0.00 15 3 16.67 SIGIRR 0 genome.wustl.edu 37 11 406002 406002 + Missense_Mutation SNP G G A TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 11 406002 406002 G A SNP SIGIRR ENST00000332725 human ensembl 74_37 -1 known missense c.1127 p.S376L 0.052 NULL pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like_dom - no_errors SIGIRR HGNC ENSG00000185187 tier1 - - 39 0 0.00 47 11 18.97 SLC17A4 0 genome.wustl.edu 37 6 25769404 25769404 + Nonsense_Mutation SNP G G T TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 6 25769404 25769404 G T SNP SLC17A4 ENST00000377905 human ensembl 74_37 +1 known nonsense c.283 p.E95* 0.001 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A4 HGNC ENSG00000146039 18 0 0.00 22 2 8.33 SLC18A3 0 genome.wustl.edu 37 10 50818912 50818912 + Silent SNP G G A TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 10 50818912 50818912 G A SNP SLC18A3 ENST00000374115 human ensembl 74_37 +1 known silent c.126 p.A42 0.994 superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC18A3 HGNC ENSG00000187714 tier1 - - 37 0 0.00 51 4 7.27 SLC18B1 0 genome.wustl.edu 37 6 133108702 133108702 + Silent SNP T T C TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 6 133108702 133108702 T C SNP SLC18B1 ENST00000275227 human ensembl 74_37 -1 known silent c.372 p.P124 0.209 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC18B1 HGNC ENSG00000146409 26 0 0.00 35 2 5.41 SLC22A6 0 genome.wustl.edu 37 11 62751107 62751107 + Missense_Mutation SNP G G T TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 11 62751107 62751107 G T SNP SLC22A6 ENST00000377871 human ensembl 74_37 -1 known missense c.530 p.T177N 1.000 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp - no_errors SLC22A6 HGNC ENSG00000197901 tier1 - - 52 0 0.00 38 9 19.15 SLC25A42 0 genome.wustl.edu 37 19 19206999 19206999 + Silent SNP G G A TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 19 19206999 19206999 G A SNP SLC25A42 ENST00000318596 human ensembl 74_37 +1 known silent c.66 p.S22 0.009 NULL pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Graves_DC - no_errors SLC25A42 HGNC ENSG00000181035 tier1 - - 32 0 0.00 41 10 19.23 SLC38A10 0 genome.wustl.edu 37 17 79254419 79254419 + Missense_Mutation SNP C C T TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 17 79254419 79254419 C T SNP SLC38A10 ENST00000374759 human ensembl 74_37 -1 known missense c.616 p.A206T 1.000 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC38A10 HGNC ENSG00000157637 tier1 rs200989047 - 35 0 0.00 41 8 15.69 SLC47A1 0 genome.wustl.edu 37 17 19470501 19470501 + Silent SNP C C T TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 17 19470501 19470501 C T SNP SLC47A1 ENST00000395585 human ensembl 74_37 +1 known silent c.1269 p.I423 0.944 pfam_MATE,tigrfam_MATE pfam_MATE,tigrfam_MATE - no_errors SLC47A1 HGNC ENSG00000142494 tier1 - - 64 0 0.00 64 21 24.71 SLC4A1AP 0 genome.wustl.edu 37 2 27905115 27905115 + Silent SNP G G A TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 2 27905115 27905115 G A SNP SLC4A1AP ENST00000326019 human ensembl 74_37 +1 known silent c.1764 p.K588 1.000 NULL pfam_FHA_dom,pfam_dsRNA-bd_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors SLC4A1AP HGNC ENSG00000163798 tier1 - - 24 0 0.00 30 6 16.67 SMC1B 0 genome.wustl.edu 37 22 45779352 45779352 + Missense_Mutation SNP G G T TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 22 45779352 45779352 G T SNP SMC1B ENST00000357450 human ensembl 74_37 -1 known missense c.2053 p.L685I 0.931 pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,superfamily_t-SNARE,smart_SMC_hinge - no_errors SMC1B HGNC ENSG00000077935 52 0 0.00 70 4 5.41 SNORD116-13 0 genome.wustl.edu 37 15 25324260 25324260 + RNA SNP G G A TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 15 25324260 25324260 G A SNP SNORD116-13 ENST00000384408 human ensembl 74_37 +1 known rna NULL NULL 0.471 - - - no_errors SNORD116-13 HGNC ENSG00000207137 tier1 - - 70 0 0.00 63 8 11.27 SNX1 0 genome.wustl.edu 37 15 64424089 64424089 + Missense_Mutation SNP C C A TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 15 64424089 64424089 C A SNP SNX1 ENST00000559844 human ensembl 74_37 +1 known missense c.1219 p.R407S 1.000 pfam_Vps5_C pfam_Vps5_C,pfam_Sorting_nexin_N,pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX1 HGNC ENSG00000028528 tier1 - - 33 0 0.00 17 18 51.43 SORL1 0 genome.wustl.edu 37 11 121491881 121491881 + Missense_Mutation SNP G G T TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 11 121491881 121491881 G T SNP SORL1 ENST00000260197 human ensembl 74_37 +1 known missense c.5998 p.G2000W 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_LDrepeatLR_classA_rpt,pfam_Fibronectin_type3,pfam_LDLR_classB_rpt,superfamily_Fibronectin_type3,superfamily_LDrepeatLR_classA_rpt,smart_VPS10,smart_LDLR_classB_rpt,smart_LDrepeatLR_classA_rpt,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors SORL1 HGNC ENSG00000137642 19 0 0.00 24 2 7.69 SPAG6 0 genome.wustl.edu 37 10 22634905 22634905 + Silent SNP C C T TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 10 22634905 22634905 C T SNP SPAG6 ENST00000376603 human ensembl 74_37 +1 known silent c.279 p.A93 0.000 NULL pfam_Armadillo,pfam_HEAT,pfam_26S_Psome_nonATP_su5,superfamily_ARM-type_fold,smart_Armadillo - no_errors SPAG6 HGNC ENSG00000077327 tier1 - - 65 0 0.00 49 6 10.91 SPECC1L 0 genome.wustl.edu 37 22 24743079 24743079 + Nonsense_Mutation SNP C C G TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 22 24743079 24743079 C G SNP SPECC1L ENST00000314328 human ensembl 74_37 +1 known nonsense c.2678 p.S893* 0.406 NULL pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_bHLH_dom,smart_CH-domain,pfscan_CH-domain - no_errors SPECC1L HGNC ENSG00000100014 tier1 - - 40 0 0.00 47 11 18.64 ST8SIA3 0 genome.wustl.edu 37 18 55021733 55021733 + Missense_Mutation SNP C C T TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 18 55021733 55021733 C T SNP ST8SIA3 ENST00000324000 human ensembl 74_37 +1 known missense c.280 p.R94W 1.000 pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST8SIA3 HGNC ENSG00000177511 tier1 - - 31 0 0.00 23 9 28.12 STAT2 0 genome.wustl.edu 37 12 56739972 56739972 + Missense_Mutation SNP C C T TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 12 56739972 56739972 C T SNP STAT2 ENST00000314128 human ensembl 74_37 -1 known missense c.2060 p.R687Q 0.022 NULL pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_STAT2_C,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 STAT2 HGNC ENSG00000170581 19 0 0.00 44 4 8.33 STEAP2 0 genome.wustl.edu 37 7 89859299 89859299 + Silent SNP T T C TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 7 89859299 89859299 T C SNP STEAP2 ENST00000287908 human ensembl 74_37 +1 known silent c.1134 p.S378 0.171 pfam_Fe3_Rdtase_TM_dom pfam_Fe3_Rdtase_TM_dom - no_errors STEAP2 HGNC ENSG00000157214 tier1 - - 57 0 0.00 35 45 56.25 STIM2 0 genome.wustl.edu 37 4 27009196 27009196 + Silent SNP G G T TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 4 27009196 27009196 G T SNP STIM2 ENST00000382009 human ensembl 74_37 +1 known silent c.1284 p.L428 0.983 NULL pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,pfscan_SAM - no_errors STIM2 HGNC ENSG00000109689 23 0 0.00 29 2 6.45 STX6 0 genome.wustl.edu 37 1 180953825 180953825 + Missense_Mutation SNP G G A TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 1 180953825 180953825 G A SNP STX6 ENST00000258301 human ensembl 74_37 -1 known missense c.679 p.H227Y 1.000 pfam_T_SNARE_dom pfam_Syntaxin-6_N,pfam_T_SNARE_dom,superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors STX6 HGNC ENSG00000135823 30 0 0.00 39 5 11.36 STXBP5 0 genome.wustl.edu 37 6 147527120 147527120 + Missense_Mutation SNP G G T TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 6 147527120 147527120 G T SNP STXBP5 ENST00000321680 human ensembl 74_37 +1 known missense c.164 p.G55V 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_Lethal2_giant pfam_LLGL2,pfam_WD40_repeat,pfam_Lgl_C_dom,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,pfscan_Synaptobrevin,prints_Lethal2_giant - no_errors STXBP5 HGNC ENSG00000164506 tier1 - - 33 0 0.00 30 4 11.76 SUSD4 0 genome.wustl.edu 37 1 223395313 223395313 + RNA SNP T T C TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 1 223395313 223395313 T C SNP SUSD4 ENST00000478605 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors SUSD4 HGNC ENSG00000143502 tier1 - - 14 0 0.00 12 6 33.33 TAF5L 0 genome.wustl.edu 37 1 229745865 229745865 + Missense_Mutation SNP T T C TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 1 229745865 229745865 T C SNP TAF5L ENST00000258281 human ensembl 74_37 -1 known missense c.235 p.N79D 1.000 pfam_TFIID-su_WD40-assoc_reg pfam_WD40_repeat,pfam_TFIID-su_WD40-assoc_reg,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TAF5L HGNC ENSG00000135801 tier1 - - 18 0 0.00 35 8 18.60 TDRD15 0 genome.wustl.edu 37 2 21365833 21365833 + Missense_Mutation SNP A A C TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 2 21365833 21365833 A C SNP TDRD15 ENST00000405799 human ensembl 74_37 +1 novel missense c.5494 p.K1832Q 0.998 pfam_Tudor,superfamily_Staphylococal_nuclease_OB-fold,smart_Tudor pfam_Tudor,superfamily_Staphylococal_nuclease_OB-fold,smart_Tudor,pfscan_Tudor - no_errors TDRD15 HGNC ENSG00000218819 tier1 - - 21 0 0.00 17 8 32.00 TEX13A 0 genome.wustl.edu 37 X 104464794 104464794 + Silent SNP G G A TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 X 104464794 104464794 G A SNP TEX13A ENST00000413579 human ensembl 74_37 -1 known silent c.288 p.F96 0.000 NULL pfam_Znf_RanBP2,pfscan_Znf_RanBP2 - no_errors TEX13A HGNC ENSG00000133149 15 0 0.00 9 3 25.00 TEX14 0 genome.wustl.edu 37 17 56643158 56643158 + Missense_Mutation SNP G G A TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 17 56643158 56643158 G A SNP TEX14 ENST00000240361 human ensembl 74_37 -1 known missense c.4052 p.S1351F 0.794 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom - no_errors TEX14 HGNC ENSG00000121101 28 0 0.00 32 3 8.57 TFR2 0 genome.wustl.edu 37 7 100238796 100238796 + Missense_Mutation SNP C C T TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 7 100238796 100238796 C T SNP TFR2 ENST00000223051 human ensembl 74_37 -1 known missense c.89 p.R30Q 0.000 NULL pfam_TFR-like_dimer_dom,pfam_Peptidase_M28,pfam_Protease-assoc_domain,superfamily_TFR-like_dimer_dom - no_errors TFR2 HGNC ENSG00000106327 tier1 - - 27 0 0.00 55 6 9.84 TMBIM4 0 genome.wustl.edu 37 12 66531894 66531894 + Missense_Mutation SNP A A G TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 12 66531894 66531894 A G SNP TMBIM4 ENST00000358230 human ensembl 74_37 -1 known missense c.563 p.L188P 1.000 pfam_Bax_inhibitor_1-related pfam_Bax_inhibitor_1-related - no_errors TMBIM4 HGNC ENSG00000155957 23 0 0.00 41 4 8.89 TMC6 0 genome.wustl.edu 37 17 76109657 76109657 + Missense_Mutation SNP C C T TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 17 76109657 76109657 C T SNP TMC6 ENST00000322914 human ensembl 74_37 -1 known missense c.2326 p.E776K 0.999 NULL pfam_TMC - no_errors TMC6 HGNC ENSG00000141524 tier1 - - 39 0 0.00 39 14 26.42 TMEM91 0 genome.wustl.edu 37 19 41889782 41889782 + Missense_Mutation SNP C C T TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 19 41889782 41889782 C T SNP TMEM91 ENST00000447302 human ensembl 74_37 +1 known missense c.364 p.P122S 0.044 NULL pfam_CD225/Dispanin_fam - no_errors TMEM91 HGNC ENSG00000142046 27 0 0.00 29 3 9.38 TNRC18 0 genome.wustl.edu 37 7 5391652 5391652 + Silent SNP C C T TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 7 5391652 5391652 C T SNP TNRC18 ENST00000399537 human ensembl 74_37 -1 known silent c.5268 p.L1756 0.054 NULL pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors TNRC18 HGNC ENSG00000182095 16 0 0.00 20 2 9.09 TP53 0 genome.wustl.edu 37 17 7577567 7577568 + Frame_Shift_Del DEL AC AC - TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 AC AC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 17 7577567 7577568 AC - DEL TP53 ENST00000269305 human ensembl 74_37 -1 known frame_shift_del c.714_713 p.C238fs 0.999:1.000 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 242 0 0.00 134 139 50.92 TRPM8 0 genome.wustl.edu 37 2 234854530 234854530 + Missense_Mutation SNP G G A TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 2 234854530 234854530 G A SNP TRPM8 ENST00000324695 human ensembl 74_37 +1 known missense c.730 p.D244N 1.000 NULL pfam_Ion_trans_dom - no_errors TRPM8 HGNC ENSG00000144481 tier1 - - 41 0 0.00 37 8 17.78 TSSK1B 0 genome.wustl.edu 37 5 112770525 112770525 + Silent SNP A A G TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 5 112770525 112770525 A G SNP TSSK1B ENST00000390666 human ensembl 74_37 -1 known silent c.12 p.A4 0.994 NULL 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,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TSSK1B HGNC ENSG00000212122 tier1 - - 20 0 0.00 18 5 21.74 TTC21A 0 genome.wustl.edu 37 3 39172546 39172546 + Missense_Mutation SNP A A T TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 3 39172546 39172546 A T SNP TTC21A ENST00000301819 human ensembl 74_37 +1 known missense c.2546 p.K849M 0.662 smart_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC21A HGNC ENSG00000168026 38 0 0.00 55 4 6.78 TTC31 0 genome.wustl.edu 37 2 74717254 74717254 + Missense_Mutation SNP G G A TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 2 74717254 74717254 G A SNP TTC31 ENST00000233623 human ensembl 74_37 +1 novel missense c.232 p.D78N 1.000 NULL smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC31 HGNC ENSG00000115282 tier1 - - 94 0 0.00 130 19 12.75 TTI1 0 genome.wustl.edu 37 20 36640851 36640851 + Silent SNP C C G TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 20 36640851 36640851 C G SNP TTI1 ENST00000373447 human ensembl 74_37 -1 known silent c.1368 p.L456 0.256 superfamily_ARM-type_fold,pirsf_UCP005250 superfamily_ARM-type_fold,pirsf_UCP005250 - no_errors TTI1 HGNC ENSG00000101407 tier1 - - 36 0 0.00 62 8 11.43 TTN 0 genome.wustl.edu 37 2 179399772 179399772 + Missense_Mutation SNP T T C TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 2 179399772 179399772 T C SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.93866 p.Q31289R 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_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 - - 48 0 0.00 44 14 24.14 TTN 0 genome.wustl.edu 37 2 179518185 179518185 + Silent SNP A A T TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 2 179518185 179518185 A T SNP TTN ENST00000589042 human ensembl 74_37 -1 putative silent c.38676 p.L12892 0.007 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_PPAK_motif,pfam_Titin_Z,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,superfamily_ARM-type_fold,superfamily_P-loop_NTPase,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 - - 46 0 0.00 44 6 12.00 TUBA1C 0 genome.wustl.edu 37 12 49666495 49666495 + Missense_Mutation SNP G G A TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 12 49666495 49666495 G A SNP TUBA1C ENST00000301072 human ensembl 74_37 +1 known missense c.835 p.E279K 1.000 pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Beta_tubulin,prints_Delta_tubulin - no_errors TUBA1C HGNC ENSG00000167553 tier1 - - 62 0 0.00 90 28 23.73 TWISTNB 0 genome.wustl.edu 37 7 19748503 19748503 + Missense_Mutation SNP G G A TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 7 19748503 19748503 G A SNP TWISTNB ENST00000222567 human ensembl 74_37 -1 known missense c.137 p.S46L 1.000 NULL pfam_RNA_pol_Rpb7_N - no_errors TWISTNB HGNC ENSG00000105849 tier1 - - 40 0 0.00 52 12 18.75 UTP20 0 genome.wustl.edu 37 12 101683933 101683933 + Missense_Mutation SNP C C A TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 12 101683933 101683933 C A SNP UTP20 ENST00000261637 human ensembl 74_37 +1 known missense c.616 p.L206I 1.000 superfamily_ARM-type_fold pfam_DRIM,superfamily_ARM-type_fold - no_errors UTP20 HGNC ENSG00000120800 tier1 - - 34 0 0.00 30 8 21.05 UTP3 0 genome.wustl.edu 37 4 71555258 71555258 + Missense_Mutation SNP G G C TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 4 71555258 71555258 G C SNP UTP3 ENST00000254803 human ensembl 74_37 +1 known missense c.864 p.R288S 0.995 pfam_Sas10/Utp3/C1D pfam_Sas10_C_dom,pfam_Sas10/Utp3/C1D - no_errors UTP3 HGNC ENSG00000132467 tier1 - - 31 0 0.00 26 12 31.58 VPS45 0 genome.wustl.edu 37 1 150048327 150048327 + Silent SNP C C T TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 1 150048327 150048327 C T SNP VPS45 ENST00000369130 human ensembl 74_37 +1 known silent c.306 p.I102 1.000 pfam_Sec1-like,superfamily_Sec1-like pfam_Sec1-like,superfamily_Sec1-like - no_errors VPS45 HGNC ENSG00000136631 tier1 - - 28 0 0.00 76 13 14.61 WDR6 0 genome.wustl.edu 37 3 49051540 49051540 + Missense_Mutation SNP C C G TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 3 49051540 49051540 C G SNP WDR6 ENST00000395474 human ensembl 74_37 +1 known missense c.2663 p.P888R 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Quino_amine_DH_bsu,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR6 HGNC ENSG00000178252 tier1 - - 54 0 0.00 40 9 18.37 WDR61 0 genome.wustl.edu 37 15 78580699 78580699 + Missense_Mutation SNP C C G TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 15 78580699 78580699 C G SNP WDR61 ENST00000267973 human ensembl 74_37 -1 known missense c.588 p.L196F 1.000 pfam_WD40_repeat,pfam_TIF_beta_prop-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_TIF_beta_prop-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR61 HGNC ENSG00000140395 tier1 - - 41 0 0.00 54 6 10.00 XRRA1 0 genome.wustl.edu 37 11 74638501 74638501 + Missense_Mutation SNP G G C TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 11 74638501 74638501 G C SNP XRRA1 ENST00000340360 human ensembl 74_37 -1 known missense c.433 p.L145V 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors XRRA1 HGNC ENSG00000166435 tier1 - - 57 0 0.00 40 14 25.93 ZMYM1 0 genome.wustl.edu 37 1 35570262 35570262 + Silent SNP G G A TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 1 35570262 35570262 G A SNP ZMYM1 ENST00000359858 human ensembl 74_37 +1 novel silent c.699 p.E233 1.000 pfam_Znf_MYM,smart_TRASH_dom pfam_Znf_MYM,pfam_HATC_dom_C,superfamily_RNaseH-like_dom,smart_TRASH_dom - no_errors ZMYM1 HGNC ENSG00000197056 tier1 - - 36 0 0.00 41 10 19.23 ZNF431 0 genome.wustl.edu 37 19 21365980 21365980 + Nonsense_Mutation SNP G G T TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 19 21365980 21365980 G T SNP ZNF431 ENST00000311048 human ensembl 74_37 +1 known nonsense c.874 p.E292* 0.010 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF431 HGNC ENSG00000196705 28 0 0.00 29 2 6.45 ZNF69 0 genome.wustl.edu 37 19 12016492 12016492 + Missense_Mutation SNP C C T TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 693188df-7f65-487e-bd59-ab40af89aa10 8b30e90d-07cd-49de-8dc7-4fdefd507ef0 19 12016492 12016492 C T SNP ZNF69 ENST00000429654 human ensembl 74_37 +1 known missense c.1280 p.S427F 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF69 HGNC ENSG00000198429 tier1 - - 43 0 0.00 54 12 18.18