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 PRAMEF6 0 genome.wustl.edu 37 1 13001286 13001286 + Missense_Mutation SNP T T G TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 1 13001286 13001286 T G SNP PRAMEF6 ENST00000355096 human ensembl 74_37 -1 known missense c.397 p.T133P 0.000 NULL NULL - no_errors PRAMEF6 HGNC ENSG00000232423 587 0 0 411 141 25.5435 OR6N1 0 genome.wustl.edu 37 1 158736261 158736261 + Missense_Mutation SNP A A C TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 1 158736261 158736261 A C SNP OR6N1 ENST00000335094 human ensembl 74_37 -1 known missense c.212 p.L71R 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6N1 HGNC ENSG00000197403 93 0 0 61 28 31.4607 ATP1A2 0 genome.wustl.edu 37 1 160097392 160097392 + Missense_Mutation SNP C C T TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 1 160097392 160097392 C T SNP ATP1A2 ENST00000361216 human ensembl 74_37 +1 known missense c.799 p.R267C 1.000 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_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_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP1A2 HGNC ENSG00000018625 87 0 0 68 28 29.1667 C1orf111 0 genome.wustl.edu 37 1 162344042 162344042 + Silent SNP G G A TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 1 162344042 162344042 G A SNP C1orf111 ENST00000367935 human ensembl 74_37 -1 known silent c.582 p.T194 0.583 NULL NULL - no_errors C1orf111 HGNC ENSG00000171722 185 0 0 135 55 28.9474 FMO2 0 genome.wustl.edu 37 1 171154909 171154909 + Silent SNP G G A TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 1 171154909 171154909 G A SNP FMO2 ENST00000209929 human ensembl 74_37 +1 known silent c.57 p.K19 1.000 pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_Flavin_mOase pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_Flavin_mOase,prints_Flavin_mOase_2,prints_Flavin_mOase_1,prints_Flavin_mOase_5 - no_errors FMO2 HGNC ENSG00000094963 153 1 0.649351 144 14 8.86076 SDHB 0 genome.wustl.edu 37 1 17349180 17349180 + Missense_Mutation SNP G G A TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 1 17349180 17349180 G A SNP SDHB ENST00000375499 human ensembl 74_37 -1 known missense c.688 p.R230C 1.000 superfamily_Helical_ferredxn,tigrfam_Succ_DH/fum_Rdtase_Fe-S superfamily_Helical_ferredxn,superfamily_2Fe-2S_ferredoxin-type,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Succ_DH/fum_Rdtase_Fe-S - no_errors SDHB HGNC ENSG00000117118 47 0 0 33 17 34 BRINP2 0 genome.wustl.edu 37 1 177245501 177245501 + Missense_Mutation SNP G G A TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 1 177245501 177245501 G A SNP BRINP2 ENST00000361539 human ensembl 74_37 +1 known missense c.943 p.A315T 1.000 NULL pfam_MACPF,smart_MACPF - no_errors BRINP2 HGNC ENSG00000198797 42 0 0 30 9 23.0769 CFH 0 genome.wustl.edu 37 1 196716376 196716376 + Missense_Mutation SNP G G A TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 1 196716376 196716376 G A SNP CFH ENST00000367429 human ensembl 74_37 +1 known missense c.3629 p.R1210H 0.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFH HGNC ENSG00000000971 64 0 0 57 28 32.9412 OR2L13 0 genome.wustl.edu 37 1 248263095 248263095 + Missense_Mutation SNP T T A TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 1 248263095 248263095 T A SNP OR2L13 ENST00000358120 human ensembl 74_37 +1 known missense c.418 p.C140S 0.086 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2L13 HGNC ENSG00000196071 244 0 0 152 75 33.0396 OR2T12 0 genome.wustl.edu 37 1 248457972 248457972 + Silent SNP C C T TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 1 248457972 248457972 C T SNP OR2T12 ENST00000317996 human ensembl 74_37 -1 known silent c.909 p.L303 0.015 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T12 HGNC ENSG00000177201 196 0 0 133 70 34.4828 GRIK3 0 genome.wustl.edu 37 1 37356689 37356689 + Missense_Mutation SNP A A C TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 1 37356689 37356689 A C SNP GRIK3 ENST00000373091 human ensembl 74_37 -1 known missense c.124 p.F42V 1.000 superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK3 HGNC ENSG00000163873 179 0 0 122 51 29.4798 MTF1 0 genome.wustl.edu 37 1 38323055 38323055 + Silent SNP A A C TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 1 38323055 38323055 A C SNP MTF1 ENST00000373036 human ensembl 74_37 -1 known silent c.276 p.G92 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors MTF1 HGNC ENSG00000188786 73 0 0 58 16 21.6216 DHCR24 0 genome.wustl.edu 37 1 55337221 55337221 + Silent SNP G G A TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 1 55337221 55337221 G A SNP DHCR24 ENST00000371269 human ensembl 74_37 -1 known silent c.678 p.A226 0.057 superfamily_FAD-bd_2 pfam_Oxid_FAD_bind_N,superfamily_FAD-bd_2 - no_errors DHCR24 HGNC ENSG00000116133 56 0 0 45 6 11.7647 TNFRSF9 0 genome.wustl.edu 37 1 7980916 7980916 + Missense_Mutation SNP T T G TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 1 7980916 7980916 T G SNP TNFRSF9 ENST00000377507 human ensembl 74_37 -1 known missense c.747 p.E249D 0.998 prints_TNFR_9 pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_9 - no_errors TNFRSF9 HGNC ENSG00000049249 151 0 0 102 50 32.8947 GBP1P1 0 genome.wustl.edu 37 1 89890013 89890013 + RNA SNP G G A TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 1 89890013 89890013 G A SNP GBP1P1 ENST00000513638 human ensembl 74_37 +1 known rna NULL NULL 0.622 - - - no_errors GBP1P1 HGNC ENSG00000225492 166 0 0 176 15 7.8534 HFM1 0 genome.wustl.edu 37 1 91859732 91859732 + Missense_Mutation SNP G G T TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 1 91859732 91859732 G T SNP HFM1 ENST00000370425 human ensembl 74_37 -1 known missense c.412 p.P138T 0.181 NULL pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors HFM1 HGNC ENSG00000162669 80 0 0 54 23 29.8701 HIF1AN 0 genome.wustl.edu 37 10 102304792 102304792 + Missense_Mutation SNP C C T TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 10 102304792 102304792 C T SNP HIF1AN ENST00000299163 human ensembl 74_37 +1 known missense c.662 p.P221L 1.000 pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors HIF1AN HGNC ENSG00000166135 88 0 0 49 19 27.9412 LZTS2 0 genome.wustl.edu 37 10 102762419 102762419 + Missense_Mutation SNP C C T TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 10 102762419 102762419 C T SNP LZTS2 ENST00000370220 human ensembl 74_37 +1 known missense c.124 p.P42S 0.927 NULL NULL - no_errors LZTS2 HGNC ENSG00000107816 69 0 0 50 18 26.4706 SMC3 0 genome.wustl.edu 37 10 112341745 112341745 + Missense_Mutation SNP G G T TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 10 112341745 112341745 G T SNP SMC3 ENST00000361804 human ensembl 74_37 +1 known missense c.612 p.E204D 1.000 pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,smart_SMC_hinge - no_errors SMC3 HGNC ENSG00000108055 134 0 0 79 44 35.7724 CAMK2G 0 genome.wustl.edu 37 10 75612948 75612948 + Splice_Site SNP A A G TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 10 75612948 75612948 A G SNP CAMK2G ENST00000423381 human ensembl 74_37 -1 known splice_site c.275+2 e4+2 1.000 - - - no_errors CAMK2G HGNC ENSG00000148660 60 0 0 34 3 8.10811 C11orf63 0 genome.wustl.edu 37 11 122817487 122817487 + Missense_Mutation SNP G G T TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 11 122817487 122817487 G T SNP C11orf63 ENST00000227349 human ensembl 74_37 +1 known missense c.1916 p.R639I 0.655 NULL NULL - no_errors C11orf63 HGNC ENSG00000109944 67 0 0 53 19 26.3889 OR6T1 0 genome.wustl.edu 37 11 123813599 123813599 + Missense_Mutation SNP A A G TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 11 123813599 123813599 A G SNP OR6T1 ENST00000321252 human ensembl 74_37 -1 known missense c.947 p.L316P 0.002 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6T1 HGNC ENSG00000181499 135 0 0 74 40 35.0877 SLC17A6 0 genome.wustl.edu 37 11 22360124 22360124 + Silent SNP G G C TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 11 22360124 22360124 G C SNP SLC17A6 ENST00000263160 human ensembl 74_37 +1 known silent c.45 p.G15 0.984 NULL pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A6 HGNC ENSG00000091664 64 0 0 42 19 31.1475 TSSC2 0 genome.wustl.edu 37 11 3423086 3423086 + RNA SNP G G A TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 11 3423086 3423086 G A SNP TSSC2 ENST00000529482 human ensembl 74_37 +1 known rna NULL NULL 0.087 - - - no_errors TSSC2 HGNC ENSG00000223756 20 0 0 18 9 33.3333 OR51I1 0 genome.wustl.edu 37 11 5461820 5461820 + Missense_Mutation SNP A A C TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 11 5461820 5461820 A C SNP OR51I1 ENST00000380211 human ensembl 74_37 -1 known missense c.925 p.F309V 0.025 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51I1 HGNC ENSG00000167359 86 0 0 67 32 32.3232 OR5D18 0 genome.wustl.edu 37 11 55587672 55587672 + Silent SNP T T G TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 11 55587672 55587672 T G SNP OR5D18 ENST00000333976 human ensembl 74_37 +1 known silent c.567 p.S189 0.381 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5D18 HGNC ENSG00000186119 124 0 0 85 48 36.0902 APBB1 0 genome.wustl.edu 37 11 6416887 6416887 + Silent SNP G G C TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 11 6416887 6416887 G C SNP APBB1 ENST00000389906 human ensembl 74_37 -1 known silent c.2010 p.T670 1.000 pfscan_PTB/PI_dom pfam_PTB/PI_dom,pfam_WW_dom,pfam_PTB,superfamily_WW_dom,smart_WW_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom,pfscan_WW_dom - no_errors APBB1 HGNC ENSG00000166313 27 0 0 26 7 21.2121 HPX 0 genome.wustl.edu 37 11 6452560 6452560 + Missense_Mutation SNP C C T TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 11 6452560 6452560 C T SNP HPX ENST00000265983 human ensembl 74_37 -1 known missense c.1270 p.G424S 0.000 superfamily_Hemopexin-like_dom,pirsf_Hemopexin_chordata pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Hemopexin-like_repeat,pirsf_Hemopexin_chordata - no_errors HPX HGNC ENSG00000110169 107 0 0 83 27 24.5455 TCIRG1 0 genome.wustl.edu 37 11 67814973 67814973 + Missense_Mutation SNP G G A TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 11 67814973 67814973 G A SNP TCIRG1 ENST00000265686 human ensembl 74_37 +1 known missense c.1239 p.M413I 1.000 pfam_V-ATPase_116kDa_su pfam_V-ATPase_116kDa_su - no_errors TCIRG1 HGNC ENSG00000110719 31 0 0 21 13 38.2353 TMEM132D 0 genome.wustl.edu 37 12 129566427 129566427 + Silent SNP T T G TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 12 129566427 129566427 T G SNP TMEM132D ENST00000422113 human ensembl 74_37 -1 known silent c.1800 p.S600 0.006 NULL NULL - no_errors TMEM132D HGNC ENSG00000151952 49 0 0 47 15 24.1935 HDAC7 0 genome.wustl.edu 37 12 48183352 48183352 + Missense_Mutation SNP C C T TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 12 48183352 48183352 C T SNP HDAC7 ENST00000380610 human ensembl 74_37 -1 known missense c.2152 p.A718T 1.000 pfam_His_deacetylse_dom,pirsf_Histone_deAcase_II_euk pfam_His_deacetylse_dom,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse - no_errors HDAC7 HGNC ENSG00000061273 42 0 0 32 13 28.8889 NAV3 0 genome.wustl.edu 37 12 78513023 78513023 + Missense_Mutation SNP C C T TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 12 78513023 78513023 C T SNP NAV3 ENST00000397909 human ensembl 74_37 +1 known missense c.3047 p.T1016I 1.000 NULL 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 167 0 0 117 42 26.4151 NALCN 0 genome.wustl.edu 37 13 101735457 101735457 + Silent SNP A A G TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 13 101735457 101735457 A G SNP NALCN ENST00000251127 human ensembl 74_37 -1 known silent c.3676 p.L1226 0.936 NULL pfam_Ion_trans_dom - no_errors NALCN HGNC ENSG00000102452 46 0 0 31 14 31.1111 DAOA 0 genome.wustl.edu 37 13 106142294 106142294 + Missense_Mutation SNP G G C TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 13 106142294 106142294 G C SNP DAOA ENST00000375936 human ensembl 74_37 +1 known missense c.326 p.R109T 0.000 NULL NULL - no_errors DAOA HGNC ENSG00000182346 58 0 0 39 10 20.4082 SACS 0 genome.wustl.edu 37 13 23912948 23912948 + Silent SNP A A G TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 13 23912948 23912948 A G SNP SACS ENST00000382292 human ensembl 74_37 -1 known silent c.5067 p.S1689 1.000 NULL pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup - no_errors SACS HGNC ENSG00000151835 48 0 0 33 14 29.7872 RTL1 0 genome.wustl.edu 37 14 101348302 101348302 + Missense_Mutation SNP C C T TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 14 101348302 101348302 C T SNP RTL1 ENST00000534062 human ensembl 74_37 -1 known missense c.2824 p.E942K 1.000 NULL pfam_Retrotrans_gag_dom,superfamily_Peptidase_aspartic_dom - no_errors RTL1 HGNC ENSG00000254656 92 0 0 72 28 28 AHNAK2 0 genome.wustl.edu 37 14 105418547 105418547 + Silent SNP A A G TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 14 105418547 105418547 A G SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known silent c.3241 p.L1081 0.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 379 0 0 337 69 16.9951 UNC79 0 genome.wustl.edu 37 14 94044282 94044282 + Missense_Mutation SNP G G A TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 14 94044282 94044282 G A SNP UNC79 ENST00000553484 human ensembl 74_37 +1 known missense c.2306 p.R769H 1.000 NULL superfamily_P-loop_NTPase,superfamily_ARM-type_fold - no_errors UNC79 HGNC ENSG00000133958 258 0 0 164 71 30.2128 ASB7 0 genome.wustl.edu 37 15 101169958 101169958 + Silent SNP C C T TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 15 101169958 101169958 C T SNP ASB7 ENST00000332783 human ensembl 74_37 +1 known silent c.528 p.I176 0.917 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt - no_errors ASB7 HGNC ENSG00000183475 49 0 0 24 13 35.1351 OR4F15 0 genome.wustl.edu 37 15 102358889 102358889 + Missense_Mutation SNP C C T TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 15 102358889 102358889 C T SNP OR4F15 ENST00000332238 human ensembl 74_37 +1 known missense c.500 p.P167L 0.147 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4F15 HGNC ENSG00000182854 166 0 0 133 53 28.4946 RYR3 0 genome.wustl.edu 37 15 33831637 33831637 + Missense_Mutation SNP G G A TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 15 33831637 33831637 G A SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known missense c.520 p.V174I 1.000 pfam_Ins145_P3_rcpt,superfamily_MIR_motif,smart_MIR_motif,prints_Ryan_recept,pfscan_MIR_motif pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,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,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 13 0 0 5 3 37.5 CASC5 0 genome.wustl.edu 37 15 40915077 40915077 + Missense_Mutation SNP T T C TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 15 40915077 40915077 T C SNP CASC5 ENST00000346991 human ensembl 74_37 +1 known missense c.2693 p.M898T 1.000 NULL NULL - no_errors CASC5 HGNC ENSG00000137812 60 0 0 46 7 13.2075 TMEM62 0 genome.wustl.edu 37 15 43438759 43438759 + Missense_Mutation SNP C C T TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 15 43438759 43438759 C T SNP TMEM62 ENST00000260403 human ensembl 74_37 +1 known missense c.545 p.S182L 1.000 NULL superfamily_Cadherin-like - no_errors TMEM62 HGNC ENSG00000137842 205 0 0 144 67 31.7536 AKAP13 0 genome.wustl.edu 37 15 86122866 86122866 + Missense_Mutation SNP G G A TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 15 86122866 86122866 G A SNP AKAP13 ENST00000361243 human ensembl 74_37 +1 known missense c.1567 p.V523I 0.001 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors AKAP13 HGNC ENSG00000170776 121 0 0 100 16 13.7931 ACAN 0 genome.wustl.edu 37 15 89389036 89389036 + Missense_Mutation SNP G G A TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 15 89389036 89389036 G A SNP ACAN ENST00000439576 human ensembl 74_37 +1 known missense c.1352 p.G451D 0.001 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link - no_errors ACAN HGNC ENSG00000157766 12 0 0 7 4 36.3636 HYDIN 0 genome.wustl.edu 37 16 70926295 70926295 + Missense_Mutation SNP T T G TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 16 70926295 70926295 T G SNP HYDIN ENST00000393567 human ensembl 74_37 -1 putative missense c.9386 p.K3129T 0.705 NULL superfamily_P-loop_NTPase,superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 96 0 0 79 13 14.1304 CDK10 0 genome.wustl.edu 37 16 89762156 89762156 + Silent SNP C C T TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 16 89762156 89762156 C T SNP CDK10 ENST00000505473 human ensembl 74_37 +1 known silent c.792 p.V264 0.000 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 CDK10 HGNC ENSG00000185324 12 0 0 9 2 18.1818 CCDC144CP 0 genome.wustl.edu 37 17 20224948 20224948 + RNA SNP G G A TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 17 20224948 20224948 G A SNP CCDC144CP ENST00000340196 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors CCDC144CP HGNC ENSG00000154898 312 1 0.319489 181 76 29.572 OTOP3 0 genome.wustl.edu 37 17 72938070 72938070 + Missense_Mutation SNP C C T TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 17 72938070 72938070 C T SNP OTOP3 ENST00000328801 human ensembl 74_37 +1 known missense c.565 p.R189C 0.960 NULL pfam_Otopetrin - no_errors OTOP3 HGNC ENSG00000182938 38 0 0 38 12 24 CASKIN2 0 genome.wustl.edu 37 17 73499210 73499210 + Missense_Mutation SNP C C T TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 17 73499210 73499210 C T SNP CASKIN2 ENST00000321617 human ensembl 74_37 -1 known missense c.1945 p.E649K 0.992 NULL pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_SH3_domain,prints_Ankyrin_rpt - no_errors CASKIN2 HGNC ENSG00000177303 23 0 0 15 12 44.4444 ITGB4 0 genome.wustl.edu 37 17 73732147 73732147 + Missense_Mutation SNP C C A TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 17 73732147 73732147 C A SNP ITGB4 ENST00000200181 human ensembl 74_37 +1 known missense c.1673 p.S558Y 0.995 pirsf_Integrin_bsu-4,pfam_EGF_extracell pirsf_Integrin_bsu-4,pfam_Integrin_bsu_N,pfam_Fibronectin_type3,pfam_Calx_beta,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Fibronectin_type3,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,smart_Calx_beta,smart_Fibronectin_type3,prints_Integrin_bsu,pfscan_Fibronectin_type3 - no_errors ITGB4 HGNC ENSG00000132470 139 0 0 141 33 18.9655 EFNB3 0 genome.wustl.edu 37 17 7611470 7611470 + Missense_Mutation SNP G G A TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 17 7611470 7611470 G A SNP EFNB3 ENST00000226091 human ensembl 74_37 +1 known missense c.317 p.R106H 1.000 pfam_Ephrin,superfamily_Cupredoxin pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin - no_errors EFNB3 HGNC ENSG00000108947 122 0 0 80 32 28.5714 SLC38A10 0 genome.wustl.edu 37 17 79219698 79219698 + Silent SNP G G A TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 17 79219698 79219698 G A SNP SLC38A10 ENST00000374759 human ensembl 74_37 -1 known silent c.3018 p.D1006 0.000 NULL pfam_AA_transpt_TM - no_errors SLC38A10 HGNC ENSG00000157637 66 0 0 78 22 22 BAHCC1 0 genome.wustl.edu 37 17 79429767 79429767 + Missense_Mutation SNP G G A TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 17 79429767 79429767 G A SNP BAHCC1 ENST00000307745 human ensembl 74_37 +1 known missense c.7385 p.R2462Q 1.000 NULL pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors RP11-1055B8.7 Clone_based_vega_gene ENSG00000171282 103 0 0 111 29 20.7143 CDH2 0 genome.wustl.edu 37 18 25593761 25593761 + Silent SNP G G T TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 18 25593761 25593761 G T SNP CDH2 ENST00000269141 human ensembl 74_37 -1 known silent c.285 p.L95 0.804 pfam_Cadherin_pro_dom,superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin - no_errors CDH2 HGNC ENSG00000170558 140 0 0 131 7 5.07246 CETN1 0 genome.wustl.edu 37 18 580610 580610 + Missense_Mutation SNP G G A TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 18 580610 580610 G A SNP CETN1 ENST00000327228 human ensembl 74_37 +1 known missense c.202 p.E68K 1.000 pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors CETN1 HGNC ENSG00000177143 42 0 0 26 6 18.75 DSEL 0 genome.wustl.edu 37 18 65178313 65178313 + Missense_Mutation SNP T T G TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 18 65178313 65178313 T G SNP DSEL ENST00000310045 human ensembl 74_37 -1 known missense c.3563 p.N1188T 0.069 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,superfamily_Chondroitin_lyas - no_errors DSEL HGNC ENSG00000171451 52 0 0 35 16 31.3725 FZR1 0 genome.wustl.edu 37 19 3533300 3533300 + Silent SNP G G T TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 19 3533300 3533300 G T SNP FZR1 ENST00000395095 human ensembl 74_37 +1 known silent c.1251 p.T417 0.055 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors FZR1 HGNC ENSG00000105325 76 0 0 41 17 29.3103 ATP4A 0 genome.wustl.edu 37 19 36050871 36050871 + Missense_Mutation SNP C C T TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 19 36050871 36050871 C T SNP ATP4A ENST00000262623 human ensembl 74_37 -1 known missense c.892 p.E298K 0.998 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATPase_P-typ_H/K-transp_N,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_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP4A HGNC ENSG00000105675 88 0 0 48 11 18.6441 PAPL 0 genome.wustl.edu 37 19 39592115 39592115 + Missense_Mutation SNP G G A TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 19 39592115 39592115 G A SNP PAPL ENST00000331256 human ensembl 74_37 +1 known missense c.1051 p.G351S 1.000 NULL pfam_PEstase_dom,superfamily_Purple_acid_Pase-like_N - no_errors PAPL Uniprot_gn ENSG00000183760 34 0 0 18 14 43.75 SIGLEC17P 0 genome.wustl.edu 37 19 51671348 51671348 + RNA SNP C C T TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 19 51671348 51671348 C T SNP SIGLEC17P ENST00000341811 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SIGLEC17P HGNC ENSG00000171101 37 0 0 32 13 28.8889 ZNF677 0 genome.wustl.edu 37 19 53741786 53741786 + Missense_Mutation SNP T T G TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 19 53741786 53741786 T G SNP ZNF677 ENST00000333952 human ensembl 74_37 -1 known missense c.194 p.K65T 0.000 smart_Krueppel-associated_box,pfscan_Krueppel-associated_box 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 ZNF677 HGNC ENSG00000197928 49 0 0 35 11 23.913 ZNF606 0 genome.wustl.edu 37 19 58490018 58490018 + Missense_Mutation SNP T T C TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 19 58490018 58490018 T C SNP ZNF606 ENST00000341164 human ensembl 74_37 -1 known missense c.2030 p.E677G 1.000 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 ZNF606 HGNC ENSG00000166704 76 0 0 52 24 31.5789 MED16 0 genome.wustl.edu 37 19 879980 879980 + Missense_Mutation SNP G G A TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 19 879980 879980 G A SNP MED16 ENST00000325464 human ensembl 74_37 -1 known missense c.1310 p.S437L 1.000 pfam_Mediator_Med16,superfamily_WD40_repeat_dom pfam_Mediator_Med16,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors MED16 HGNC ENSG00000175221 12 0 0 10 5 33.3333 ZNF562 0 genome.wustl.edu 37 19 9764240 9764240 + Silent SNP G G A TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 19 9764240 9764240 G A SNP ZNF562 ENST00000448622 human ensembl 74_37 -1 known silent c.666 p.H222 0.008 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 ZNF562 HGNC ENSG00000171466 62 0 0 35 16 31.3725 BAZ2B 0 genome.wustl.edu 37 2 160245918 160245918 + Missense_Mutation SNP C C G TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 2 160245918 160245918 C G SNP BAZ2B ENST00000392783 human ensembl 74_37 -1 known missense c.3154 p.E1052Q 1.000 NULL pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_dom,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_Methyl_CpG_DNA-bd,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ2B HGNC ENSG00000123636 107 1 0.925926 53 19 26.3889 SCN7A 0 genome.wustl.edu 37 2 167301492 167301492 + Missense_Mutation SNP T T G TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 2 167301492 167301492 T G SNP SCN7A ENST00000409855 human ensembl 74_37 -1 known missense c.1406 p.K469T 0.023 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN7A HGNC ENSG00000136546 32 0 0 30 10 25 TTN 0 genome.wustl.edu 37 2 179594026 179594026 + Missense_Mutation SNP A A C TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 2 179594026 179594026 A C SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.15125 p.V5042G 0.975 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 116 0 0 100 30 23.0769 COL5A2 0 genome.wustl.edu 37 2 189928718 189928718 + Silent SNP T T C TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 2 189928718 189928718 T C SNP COL5A2 ENST00000374866 human ensembl 74_37 -1 known silent c.1758 p.K586 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL5A2 HGNC ENSG00000204262 31 0 0 31 3 8.82353 THAP4 0 genome.wustl.edu 37 2 242573185 242573185 + Silent SNP C C T TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 2 242573185 242573185 C T SNP THAP4 ENST00000407315 human ensembl 74_37 -1 known silent c.387 p.P129 0.000 NULL pfam_DUF1794,pfam_Znf_C2CH,superfamily_Calycin-like,smart_Znf_C2CH,pfscan_Znf_C2CH - no_errors THAP4 HGNC ENSG00000176946 106 0 0 56 40 41.6667 RAB10 0 genome.wustl.edu 37 2 26350094 26350094 + Missense_Mutation SNP G G A TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 2 26350094 26350094 G A SNP RAB10 ENST00000264710 human ensembl 74_37 +1 known missense c.409 p.G137R 1.000 pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB10 HGNC ENSG00000084733 135 0 0 141 13 8.44156 CIB4 0 genome.wustl.edu 37 2 26804122 26804122 + RNA SNP T T G TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 2 26804122 26804122 T G SNP CIB4 ENST00000403670 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors CIB4 HGNC ENSG00000157884 10 0 0 11 8 42.1053 VAX2 0 genome.wustl.edu 37 2 71160232 71160232 + Missense_Mutation SNP T T A TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 2 71160232 71160232 T A SNP VAX2 ENST00000234392 human ensembl 74_37 +1 known missense c.771 p.D257E 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa - no_errors VAX2 HGNC ENSG00000116035 16 0 0 28 6 17.6471 ACSS1 0 genome.wustl.edu 37 20 24993556 24993556 + Silent SNP G G A TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 20 24993556 24993556 G A SNP ACSS1 ENST00000323482 human ensembl 74_37 -1 known silent c.1599 p.D533 0.993 pfam_AMP-dep_Synth/Lig,tigrfam_Ac_CoA_lig pfam_AMP-dep_Synth/Lig,tigrfam_Ac_CoA_lig - no_errors ACSS1 HGNC ENSG00000154930 103 0 0 124 40 24.3902 PTPRT 0 genome.wustl.edu 37 20 41420056 41420056 + Missense_Mutation SNP G G T TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 20 41420056 41420056 G T SNP PTPRT ENST00000373198 human ensembl 74_37 -1 known missense c.265 p.H89N 1.000 pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom,prints_MAM_dom pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRT HGNC ENSG00000196090 26 0 0 29 11 27.5 PTK6 0 genome.wustl.edu 37 20 62165514 62165514 + Silent SNP G G A TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 20 62165514 62165514 G A SNP PTK6 ENST00000217185 human ensembl 74_37 -1 known silent c.507 p.P169 1.000 pfscan_SH2 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain - no_errors PTK6 HGNC ENSG00000101213 8 0 0 5 3 37.5 ADAMTS5 0 genome.wustl.edu 37 21 28338365 28338365 + Missense_Mutation SNP C C T TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 21 28338365 28338365 C T SNP ADAMTS5 ENST00000284987 human ensembl 74_37 -1 known missense c.346 p.A116T 0.003 pfam_Peptidase_M12B_N pfam_ADAM_spacer1,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS5,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS5 HGNC ENSG00000154736 90 0 0 62 13 17.3333 DSCR3 0 genome.wustl.edu 37 21 38612909 38612909 + Missense_Mutation SNP C C A TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 21 38612909 38612909 C A SNP DSCR3 ENST00000309117 human ensembl 74_37 -1 known missense c.89 p.S30I 0.995 pfam_VPS26,pfam_Arrestin-like_N,superfamily_Ig_E-set pfam_VPS26,pfam_Arrestin-like_N,superfamily_Ig_E-set - no_errors DSCR3 HGNC ENSG00000157538 41 0 0 24 15 38.4615 TRPM2 0 genome.wustl.edu 37 21 45833814 45833814 + Silent SNP C C T TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 21 45833814 45833814 C T SNP TRPM2 ENST00000300482 human ensembl 74_37 +1 known silent c.3003 p.T1001 0.010 pfam_Ion_trans_dom pfam_Ion_trans_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors TRPM2 HGNC ENSG00000142185 249 0 0 193 26 11.8721 EIF4ENIF1 0 genome.wustl.edu 37 22 31851888 31851888 + Missense_Mutation SNP C C T TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 22 31851888 31851888 C T SNP EIF4ENIF1 ENST00000330125 human ensembl 74_37 -1 known missense c.1049 p.R350Q 0.998 pfam_eIF4E_transporter pfam_eIF4E_transporter - no_errors EIF4ENIF1 HGNC ENSG00000184708 107 1 0.925926 67 29 30.2083 EP300 0 genome.wustl.edu 37 22 41572924 41572924 + Missense_Mutation SNP C C T TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 22 41572924 41572924 C T SNP EP300 ENST00000263253 human ensembl 74_37 +1 known missense c.5209 p.R1737C 1.000 pfam_Znf_TAZ,superfamily_Znf_TAZ,smart_Znf_TAZ,pfscan_Znf_TAZ pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors EP300 HGNC ENSG00000100393 63 0 0 41 17 29.3103 MOV10L1 0 genome.wustl.edu 37 22 50555597 50555597 + Missense_Mutation SNP G G A TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 22 50555597 50555597 G A SNP MOV10L1 ENST00000262794 human ensembl 74_37 +1 known missense c.1271 p.R424H 0.999 NULL superfamily_P-loop_NTPase,superfamily_NA-bd_OB-fold - no_errors MOV10L1 HGNC ENSG00000073146 131 1 0.757576 96 39 28.8889 ACPL2 0 genome.wustl.edu 37 3 141011729 141011729 + Silent SNP C C T TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 3 141011729 141011729 C T SNP ACPL2 ENST00000286353 human ensembl 74_37 +1 known silent c.1125 p.Y375 1.000 pfam_His_Pase_superF_clade-2 pfam_His_Pase_superF_clade-2 - no_errors ACPL2 HGNC ENSG00000155893 161 0 0 110 60 35.2941 NAALADL2 0 genome.wustl.edu 37 3 174814828 174814828 + Missense_Mutation SNP C C A TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 3 174814828 174814828 C A SNP NAALADL2 ENST00000454872 human ensembl 74_37 +1 known missense c.292 p.Q98K 1.000 NULL superfamily_TFR-like_dimer_dom - no_errors NAALADL2 HGNC ENSG00000177694 62 0 0 55 18 24.6575 LINC00969 0 genome.wustl.edu 37 3 195400728 195400728 + RNA SNP A A G TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 3 195400728 195400728 A G SNP LINC00969 ENST00000414625 human ensembl 74_37 +1 known rna NULL NULL 0.999 - - - no_errors LINC00969 HGNC ENSG00000242086 26 0 0 17 3 15 CNTN4 0 genome.wustl.edu 37 3 2908444 2908444 + Missense_Mutation SNP T T A TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 3 2908444 2908444 T A SNP CNTN4 ENST00000397461 human ensembl 74_37 +1 known missense c.463 p.Y155N 1.000 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,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 CNTN4 HGNC ENSG00000144619 115 0 0 90 37 29.1339 ARPP21 0 genome.wustl.edu 37 3 35758839 35758839 + Nonsense_Mutation SNP C C T TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 3 35758839 35758839 C T SNP ARPP21 ENST00000417925 human ensembl 74_37 +1 known nonsense c.883 p.Q295* 1.000 NULL pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd - no_errors ARPP21 HGNC ENSG00000172995 53 0 0 62 6 8.82353 CCR3 0 genome.wustl.edu 37 3 46307574 46307574 + Missense_Mutation SNP C C T TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 3 46307574 46307574 C T SNP CCR3 ENST00000545097 human ensembl 74_37 +1 known missense c.988 p.R330W 0.940 pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CCR3,prints_Chemokine_CCR1 - no_errors CCR3 HGNC ENSG00000183625 46 0 0 36 24 40 BSN 0 genome.wustl.edu 37 3 49694711 49694711 + Silent SNP C C T TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 3 49694711 49694711 C T SNP BSN ENST00000296452 human ensembl 74_37 +1 known silent c.7722 p.P2574 0.027 NULL pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD - no_errors BSN HGNC ENSG00000164061 46 0 0 42 18 30 TTLL3 0 genome.wustl.edu 37 3 9868870 9868870 + Missense_Mutation SNP G G A TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 3 9868870 9868870 G A SNP TTLL3 ENST00000426895 human ensembl 74_37 +1 known missense c.1493 p.R498H 0.690 pfam_TTL/TTLL_fam pfam_TTL/TTLL_fam - no_errors TTLL3 HGNC ENSG00000214021 101 0 0 64 31 32.6316 TLL1 0 genome.wustl.edu 37 4 166924594 166924594 + Missense_Mutation SNP C C G TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 4 166924594 166924594 C G SNP TLL1 ENST00000061240 human ensembl 74_37 +1 known missense c.684 p.I228M 0.992 pfam_Peptidase_M12A,smart_Peptidase_Metallo,pirsf_BMP_1/tolloid-like pfam_CUB_dom,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,smart_Peptidase_Metallo,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_BMP_1/tolloid-like,pfscan_CUB_dom,pfscan_EG-like_dom,prints_Peptidase_M12A - no_errors TLL1 HGNC ENSG00000038295 70 0 0 54 22 28.9474 FAT1 0 genome.wustl.edu 37 4 187516942 187516942 + Missense_Mutation SNP G G A TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 4 187516942 187516942 G A SNP FAT1 ENST00000441802 human ensembl 74_37 -1 known missense c.13039 p.P4347S 0.998 NULL pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin - no_errors FAT1 HGNC ENSG00000083857 75 0 0 47 19 28.7879 SLIT2 0 genome.wustl.edu 37 4 20535276 20535276 + Silent SNP G G A TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 4 20535276 20535276 G A SNP SLIT2 ENST00000504154 human ensembl 74_37 +1 known silent c.1770 p.T590 0.005 NULL pfam_EG-like_dom,pfam_Laminin_G,pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT2 HGNC ENSG00000145147 98 0 0 76 13 14.6067 RGS12 0 genome.wustl.edu 37 4 3318625 3318625 + Missense_Mutation SNP C C T TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 4 3318625 3318625 C T SNP RGS12 ENST00000344733 human ensembl 74_37 +1 known missense c.728 p.T243M 0.781 smart_PTB/PI_dom,pfscan_PTB/PI_dom pfam_Raf-like_ras-bd,pfam_RGS_dom,pfam_PDZ,pfam_GoLoco_motif,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_PTB/PI_dom,smart_Regulat_G_prot_signal_superfam,smart_Raf-like_ras-bd,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_PDZ,pfscan_PTB/PI_dom,pfscan_Raf-like_ras-bd,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS12 HGNC ENSG00000159788 76 0 0 41 23 35.9375 PTPN13 0 genome.wustl.edu 37 4 87610307 87610307 + Missense_Mutation SNP A A C TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 4 87610307 87610307 A C SNP PTPN13 ENST00000436978 human ensembl 74_37 +1 known missense c.510 p.K170N 0.966 pirsf_Tyr_Pase_non-rcpt_typ-13,smart_KIND pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,superfamily_PAZ_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN13 HGNC ENSG00000163629 156 0 0 125 55 30.5556 P4HA2 0 genome.wustl.edu 37 5 131553527 131553527 + Missense_Mutation SNP G G T TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 5 131553527 131553527 G T SNP P4HA2 ENST00000166534 human ensembl 74_37 -1 known missense c.97 p.L33M 1.000 pfam_Pro_4_hyd_alph_N pfam_Pro_4_hyd_alph_N,pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors P4HA2 HGNC ENSG00000072682 105 1 0.943396 74 30 28.8462 UQCRQ 0 genome.wustl.edu 37 5 132203255 132203255 + Missense_Mutation SNP C C G TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 5 132203255 132203255 C G SNP UQCRQ ENST00000378665 human ensembl 74_37 +1 known missense c.230 p.A77G 0.464 pfam_Cyt_bc1_su8,superfamily_Cyt_bc1_su8 pfam_Cyt_bc1_su8,superfamily_Cyt_bc1_su8 - no_errors UQCRQ HGNC ENSG00000164405 36 0 0 17 9 34.6154 DNAH5 0 genome.wustl.edu 37 5 13786317 13786317 + Missense_Mutation SNP A A G TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 5 13786317 13786317 A G SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known missense c.8791 p.F2931L 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 42 0 0 31 9 22.5 PCDHA1 0 genome.wustl.edu 37 5 140166387 140166387 + Missense_Mutation SNP C C T TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 5 140166387 140166387 C T SNP PCDHA1 ENST00000504120 human ensembl 74_37 +1 known missense c.512 p.T171M 0.002 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA1 HGNC ENSG00000204970 98 0 0 52 23 30.6667 PCDHB5 0 genome.wustl.edu 37 5 140517197 140517197 + Silent SNP C C T TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 5 140517197 140517197 C T SNP PCDHB5 ENST00000231134 human ensembl 74_37 +1 known silent c.2181 p.P727 0.007 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB5 HGNC ENSG00000113209 229 0 0 138 63 31.3433 PCDHB18 0 genome.wustl.edu 37 5 140616472 140616472 + RNA SNP G G C TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 5 140616472 140616472 G C SNP PCDHB18 ENST00000526308 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors PCDHB18 HGNC ENSG00000146001 49 0 0 36 11 23.4043 PCDHGA7 0 genome.wustl.edu 37 5 140763523 140763523 + Missense_Mutation SNP A A G TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 5 140763523 140763523 A G SNP PCDHGA7 ENST00000518325 human ensembl 74_37 +1 known missense c.1057 p.S353G 0.022 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA7 HGNC ENSG00000253537 67 0 0 51 3 5.55556 IL31RA 0 genome.wustl.edu 37 5 55204248 55204248 + Missense_Mutation SNP G G A TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 5 55204248 55204248 G A SNP IL31RA ENST00000396836 human ensembl 74_37 +1 known missense c.1510 p.A504T 0.000 NULL pfam_Fibronectin_type3,pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL31RA HGNC ENSG00000164509 56 0 0 35 17 32.6923 TAS2R1 0 genome.wustl.edu 37 5 9629933 9629933 + Missense_Mutation SNP A A C TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 5 9629933 9629933 A C SNP TAS2R1 ENST00000382492 human ensembl 74_37 -1 known missense c.212 p.F71C 0.000 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R1 HGNC ENSG00000169777 31 0 0 29 8 21.6216 FAM184A 0 genome.wustl.edu 37 6 119345242 119345242 + Missense_Mutation SNP C C T TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 6 119345242 119345242 C T SNP FAM184A ENST00000338891 human ensembl 74_37 -1 known missense c.896 p.R299Q 1.000 NULL superfamily_Prefoldin - no_errors FAM184A HGNC ENSG00000111879 146 0 0 87 32 26.8908 HIVEP2 0 genome.wustl.edu 37 6 143081659 143081659 + Silent SNP G G A TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 6 143081659 143081659 G A SNP HIVEP2 ENST00000012134 human ensembl 74_37 -1 known silent c.5766 p.D1922 1.000 NULL pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP2 HGNC ENSG00000010818 44 0 0 29 5 14.7059 TULP4 0 genome.wustl.edu 37 6 158919781 158919781 + Missense_Mutation SNP G G A TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 6 158919781 158919781 G A SNP TULP4 ENST00000367097 human ensembl 74_37 +1 known missense c.1951 p.D651N 1.000 superfamily_Tubby_C-like pfam_Tubby_C,pfam_SOCS_C,pfam_WD40_repeat,superfamily_Tubby_C-like,superfamily_WD40_repeat_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_WD40_repeat,smart_SOCS_C,pfscan_SOCS_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TULP4 HGNC ENSG00000130338 107 0 0 97 45 31.6901 AARS2 0 genome.wustl.edu 37 6 44270562 44270562 + Missense_Mutation SNP C C T TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 6 44270562 44270562 C T SNP AARS2 ENST00000244571 human ensembl 74_37 -1 known missense c.2341 p.V781I 0.008 superfamily_Thr/Ala-tRNA-synth_IIc_edit,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-lgiase_IIc pfam_Ala-tRNA-synth_IIc_N,pfam_tRNA_SAD,superfamily_Ala-tRNA-ligase_IIc_anticod-bd,superfamily_Thr/Ala-tRNA-synth_IIc_edit,smart_tRNA_SAD,prints_Ala-tRNA-lgiase_IIc,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-lgiase_IIc - no_errors AARS2 HGNC ENSG00000124608 27 0 0 22 6 21.4286 DDX43 0 genome.wustl.edu 37 6 74104733 74104733 + Missense_Mutation SNP G G C TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 6 74104733 74104733 G C SNP DDX43 ENST00000370336 human ensembl 74_37 +1 known missense c.105 p.L35F 0.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_KH_dom_type_1,superfamily_P-loop_NTPase,smart_KH_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_KH_dom_type_1,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX43 HGNC ENSG00000080007 100 0 0 85 40 32 CTTNBP2 0 genome.wustl.edu 37 7 117432148 117432148 + Missense_Mutation SNP C C T TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 7 117432148 117432148 C T SNP CTTNBP2 ENST00000160373 human ensembl 74_37 -1 known missense c.1102 p.A368T 0.000 NULL pfam_Cortactin-binding_p2_N,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors CTTNBP2 HGNC ENSG00000077063 110 0 0 73 33 31.1321 OR2F2 0 genome.wustl.edu 37 7 143633227 143633227 + Nonsense_Mutation SNP G G A TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 7 143633227 143633227 G A SNP OR2F2 ENST00000408955 human ensembl 74_37 +1 known nonsense c.902 p.W301* 0.675 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2F2 HGNC ENSG00000221910 49 0 0 38 14 26.9231 PAPOLB 0 genome.wustl.edu 37 7 4900190 4900190 + Missense_Mutation SNP T T C TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 7 4900190 4900190 T C SNP PAPOLB ENST00000404991 human ensembl 74_37 -1 known missense c.1249 p.N417D 1.000 pfam_PolA_pol_RNA-bd_dom,superfamily_NuclTrfase_I_C,pirsf_PolyA_polymerase pfam_PolA_pol_cen_dom,pfam_PolA_pol_RNA-bd_dom,pfam_Nucleotidyltransferase,superfamily_NuclTrfase_I_C,pirsf_PolyA_polymerase - no_errors PAPOLB HGNC ENSG00000218823 306 1 0.325733 217 97 30.8917 FSCN1 0 genome.wustl.edu 37 7 5642914 5642914 + Missense_Mutation SNP G G A TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 7 5642914 5642914 G A SNP FSCN1 ENST00000382361 human ensembl 74_37 +1 known missense c.859 p.E287K 1.000 pfam_Fascin-domain,superfamily_Actin_cross-linking pfam_Fascin-domain,superfamily_Actin_cross-linking - no_errors FSCN1 HGNC ENSG00000075618 68 0 0 51 16 23.8806 INTS4L1 0 genome.wustl.edu 37 7 64649422 64649422 + RNA SNP C C T TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 7 64649422 64649422 C T SNP INTS4L1 ENST00000587624 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors INTS4L1 HGNC ENSG00000164669 57 0 0 55 18 24.6575 BUD31 0 genome.wustl.edu 37 7 99015077 99015077 + Silent SNP A A G TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 7 99015077 99015077 A G SNP BUD31 ENST00000222969 human ensembl 74_37 +1 known silent c.243 p.E81 1.000 pfam_G10,prints_G10 pfam_G10,prints_G10 - no_errors BUD31 HGNC ENSG00000106245 56 0 0 41 4 8.88889 MCM7 0 genome.wustl.edu 37 7 99694968 99694968 + Missense_Mutation SNP G G T TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 7 99694968 99694968 G T SNP MCM7 ENST00000303887 human ensembl 74_37 -1 known missense c.1157 p.A386D 1.000 pfam_MCM_DNA-dep_ATPase,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_DNA-dep_ATPase pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_DNA-dep_ATPase,prints_MCM7,prints_MCM_4 - no_errors MCM7 HGNC ENSG00000166508 48 0 0 42 11 20.7547 PRKDC 0 genome.wustl.edu 37 8 48817430 48817430 + Missense_Mutation SNP A A G TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 8 48817430 48817430 A G SNP PRKDC ENST00000314191 human ensembl 74_37 -1 known missense c.3041 p.L1014S 0.998 superfamily_ARM-type_fold pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors PRKDC HGNC ENSG00000253729 101 0 0 73 20 21.5054 MOS 0 genome.wustl.edu 37 8 57025798 57025798 + Silent SNP C C A TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 8 57025798 57025798 C A SNP MOS ENST00000311923 human ensembl 74_37 -1 known silent c.744 p.P248 0.025 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MOS HGNC ENSG00000172680 73 0 0 65 18 21.6867 HRSP12 0 genome.wustl.edu 37 8 99118518 99118518 + Missense_Mutation SNP C C T TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 8 99118518 99118518 C T SNP HRSP12 ENST00000254878 human ensembl 74_37 -1 known missense c.208 p.G70S 0.972 pfam_YjgF/Yer057p/UK114,superfamily_Endoribo_LPSP/chorism_mut-like,tigrfam_YjgF-like pfam_YjgF/Yer057p/UK114,superfamily_Endoribo_LPSP/chorism_mut-like,tigrfam_YjgF-like - no_errors HRSP12 HGNC ENSG00000132541 98 0 0 121 7 5.46875 SLC27A4 0 genome.wustl.edu 37 9 131117991 131117991 + Missense_Mutation SNP C C T TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 9 131117991 131117991 C T SNP SLC27A4 ENST00000300456 human ensembl 74_37 +1 known missense c.1690 p.R564C 0.070 NULL pfam_AMP-dep_Synth/Lig - no_errors SLC27A4 HGNC ENSG00000167114 81 0 0 54 25 31.6456 C9orf9 0 genome.wustl.edu 37 9 135762802 135762802 + Missense_Mutation SNP G G A TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 9 135762802 135762802 G A SNP C9orf9 ENST00000356311 human ensembl 74_37 +1 known missense c.191 p.R64Q 1.000 NULL NULL - no_errors C9orf9 HGNC ENSG00000165698 158 0 0 122 10 7.57576 REXO4 0 genome.wustl.edu 37 9 136272968 136272968 + Missense_Mutation SNP A A C TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 9 136272968 136272968 A C SNP REXO4 ENST00000371942 human ensembl 74_37 -1 known missense c.1112 p.I371S 0.995 pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease - no_errors REXO4 HGNC ENSG00000148300 33 0 0 16 12 42.8571 SARDH 0 genome.wustl.edu 37 9 136532044 136532044 + Missense_Mutation SNP C C T TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 9 136532044 136532044 C T SNP SARDH ENST00000371868 human ensembl 74_37 -1 known missense c.794 p.R265H 0.000 pfam_GCV_T_C pfam_GCV_T_N,pfam_GCV_T_C,pfam_SoxG - no_errors SARDH HGNC ENSG00000123453 10 0 0 8 8 50 BRD3 0 genome.wustl.edu 37 9 136907002 136907002 + Silent SNP C C T TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 9 136907002 136907002 C T SNP BRD3 ENST00000303407 human ensembl 74_37 -1 known silent c.1287 p.A429 0.001 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors BRD3 HGNC ENSG00000169925 27 0 0 17 11 39.2857 COL5A1 0 genome.wustl.edu 37 9 137687154 137687154 + Missense_Mutation SNP G G A TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 9 137687154 137687154 G A SNP COL5A1 ENST00000371817 human ensembl 74_37 +1 known missense c.2792 p.G931D 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL5A1 HGNC ENSG00000130635 95 0 0 73 7 8.75 SPATA31D3 0 genome.wustl.edu 37 9 84562580 84562580 + RNA SNP T T G TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 9 84562580 84562580 T G SNP SPATA31D3 ENST00000334208 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors SPATA31D3 HGNC ENSG00000186788 46 0 0 35 3 7.89474 ARMCX6 0 genome.wustl.edu 37 X 100871324 100871324 + Missense_Mutation SNP C C T TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 X 100871324 100871324 C T SNP ARMCX6 ENST00000361910 human ensembl 74_37 -1 known missense c.287 p.R96Q 0.104 NULL pfam_ARM-rpt_dom - no_errors ARMCX6 HGNC ENSG00000198960 79 0 0 22 63 74.1176 ZMAT1 0 genome.wustl.edu 37 X 101139163 101139163 + Silent SNP A A C TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 X 101139163 101139163 A C SNP ZMAT1 ENST00000372782 human ensembl 74_37 -1 known silent c.1236 p.T412 0.993 NULL superfamily_Asn/Gln_tRNA_amidoTrfrase-rel,smart_Znf_U1,smart_Znf_C2H2-like - no_errors ZMAT1 HGNC ENSG00000166432 169 0 0 84 60 41.6667 DCAF12L2 0 genome.wustl.edu 37 X 125298907 125298907 + Missense_Mutation SNP G G A TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 X 125298907 125298907 G A SNP DCAF12L2 ENST00000360028 human ensembl 74_37 -1 known missense c.1001 p.P334L 0.997 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF12L2 HGNC ENSG00000198354 53 0 0 24 45 65.2174 PPP2R3B 0 genome.wustl.edu 37 X 299398 299398 + Silent SNP C C T TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 X 299398 299398 C T SNP PPP2R3B ENST00000390665 human ensembl 74_37 -1 known silent c.1518 p.A506 0.997 NULL pfscan_EF_hand_dom - no_errors PPP2R3B HGNC ENSG00000167393 41 0 0 38 5 11.6279 POMGNT1 0 genome.wustl.edu 37 1 46662434 46662439 + In_Frame_Del DEL CTGCGA CTGCGA - TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 CTGCGA CTGCGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 1 46662434 46662439 CTGCGA - DEL POMGNT1 ENST00000371986 human ensembl 74_37 -1 known in_frame_del c.323_318 p.RS107in_frame_del 1.000:1.000:0.997:1.000:1.000:1.000 NULL pfam_Glyco_trans_13 - no_errors POMGNT1 HGNC ENSG00000085998 105 0 0 83 16 16.1616 RIOK3 0 genome.wustl.edu 37 18 21057016 21057017 + Frame_Shift_Ins INS - - CAGTGAG TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 18 21057016 21057017 - CAGTGAG INS RIOK3 ENST00000339486 human ensembl 74_37 +1 known frame_shift_ins c.1220_1221 p.Y410fs 1.000:1.000 pfam_RIO-like_kinase,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_RIO_kinase,pirsf_Ser/Thr_kinase_Rio3 pfam_RIO-like_kinase,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_RIO_kinase,pirsf_Ser/Thr_kinase_Rio3 - no_errors RIOK3 HGNC ENSG00000101782 57 0 0 59 7 10.6061 KIF16B 0 genome.wustl.edu 37 20 16352381 16352383 + In_Frame_Del DEL CTT CTT - TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 20 16352381 16352383 CTT - DEL KIF16B ENST00000408042 human ensembl 74_37 -1 known in_frame_del c.3376_3374 p.E1125in_frame_del 1.000:1.000:1.000 NULL pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIF16B HGNC ENSG00000089177 100 0 0 55 7 11.2903 PCDHGB7 0 genome.wustl.edu 37 5 140799480 140799481 + Frame_Shift_Ins INS - - G TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 5 140799480 140799481 - G INS PCDHGB7 ENST00000398594 human ensembl 74_37 +1 known frame_shift_ins c.2054_2055 p.A686fs 0.949:0.118 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB7 HGNC ENSG00000254122 93 0 0 66 18 21.4286 LIFR 0 genome.wustl.edu 37 5 38496666 38496667 + Frame_Shift_Ins INS - - T TCGA-CG-4441-01A-01D-1800-08 TCGA-CG-4441-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3561742b-6710-43fc-be5f-e79fe27a2106 26a663df-034d-4549-b77e-aca4e2c7c522 5 38496666 38496667 - T INS LIFR ENST00000263409 human ensembl 74_37 -1 known frame_shift_ins c.1703_1702 p.I568fs 1.000:1.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors LIFR HGNC ENSG00000113594 64 0 0 34 18 34.6154