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 ABCB1 0 genome.wustl.edu 37 7 87178743 87178743 + Missense_Mutation SNP G G T TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 7 87178743 87178743 G T SNP ABCB1 ENST00000265724 human ensembl 74_37 -1 known missense c.1646 p.P549H 1.000 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB1 HGNC ENSG00000085563 78 0 0.00 68 4 5.56 ABCC12 0 genome.wustl.edu 37 16 48149422 48149422 + Missense_Mutation SNP C C T TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 16 48149422 48149422 C T SNP ABCC12 ENST00000416054 human ensembl 74_37 -1 known missense c.1820 p.R607Q 0.518 NULL pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,pfscan_ABC1_TM_dom - no_errors ABCC12 HGNC ENSG00000140798 tier1 rs150180336 - 45 0 0.00 50 29 36.71 ACOX1 0 genome.wustl.edu 37 17 73947651 73947651 + Nonsense_Mutation SNP C C A TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 17 73947651 73947651 C A SNP ACOX1 ENST00000293217 human ensembl 74_37 -1 known nonsense c.952 p.E318* 1.000 superfamily_AcylCo_DH/oxidase_C,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 - - 18 0 0.00 29 11 27.50 ACTN2 0 genome.wustl.edu 37 1 236914952 236914952 + Missense_Mutation SNP G G T TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 1 236914952 236914952 G T SNP ACTN2 ENST00000366578 human ensembl 74_37 +1 known missense c.1839 p.K613N 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors ACTN2 HGNC ENSG00000077522 55 0 0.00 53 4 7.02 ADAMTS1 0 genome.wustl.edu 37 21 28212008 28212008 + Silent SNP C C T TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 21 28212008 28212008 C T SNP ADAMTS1 ENST00000284984 human ensembl 74_37 -1 known silent c.1926 p.A642 0.001 NULL pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,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-TS1,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS1 HGNC ENSG00000154734 tier1 - - 67 0 0.00 43 17 28.33 AFF2 0 genome.wustl.edu 37 X 148039901 148039901 + Missense_Mutation SNP A A C TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac X 148039901 148039901 A C SNP AFF2 ENST00000370460 human ensembl 74_37 +1 known missense c.2603 p.K868T 1.000 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF2 HGNC ENSG00000155966 tier1 - - 32 0 0.00 14 18 56.25 AGBL1 0 genome.wustl.edu 37 15 87089267 87089267 + Missense_Mutation SNP A A C TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 15 87089267 87089267 A C SNP AGBL1 ENST00000441037 human ensembl 74_37 +1 known missense c.2582 p.K861T 1.000 pfam_Peptidase_M14 pfam_Peptidase_M14,superfamily_ARM-type_fold - no_errors AGBL1 HGNC ENSG00000166748 tier1 - - 75 0 0.00 119 11 8.46 AGPAT1 0 genome.wustl.edu 37 6 32136858 32136858 + RNA SNP C C T TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 6 32136858 32136858 C T SNP AGPAT1 ENST00000490711 human ensembl 74_37 -1 known rna NULL NULL 0.018 - - - no_errors AGPAT1 HGNC ENSG00000204310 tier1 - - 28 0 0.00 43 11 20.37 ANKRD2 0 genome.wustl.edu 37 10 99337638 99337638 + Missense_Mutation SNP G G A TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 10 99337638 99337638 G A SNP ANKRD2 ENST00000307518 human ensembl 74_37 +1 known missense c.250 p.A84T 0.002 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD2 HGNC ENSG00000165887 tier1 - - 44 0 0.00 47 5 9.62 ANKRD33B 0 genome.wustl.edu 37 5 10564910 10564910 + Missense_Mutation SNP G G A TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 5 10564910 10564910 G A SNP ANKRD33B ENST00000504806 human ensembl 74_37 +1 known missense c.331 p.V111I 0.204 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD33B HGNC ENSG00000164236 tier1 - - 28 0 0.00 18 6 25.00 ANKRD36BP2 0 genome.wustl.edu 37 2 89092006 89092006 + RNA SNP C C T TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 2 89092006 89092006 C T SNP ANKRD36BP2 ENST00000393515 human ensembl 74_37 +1 known rna NULL NULL 0.114 - - - no_errors ANKRD36BP2 HGNC ENSG00000230006 tier1 - - 199 0 0.00 150 56 27.18 AOC1 0 genome.wustl.edu 37 7 150553895 150553895 + Missense_Mutation SNP G G A TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 7 150553895 150553895 G A SNP AOC1 ENST00000416793 human ensembl 74_37 +1 known missense c.337 p.E113K 1.000 pfam_Cu_amine_oxidase_N2,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase pfam_Cu_amine_oxidase_C,pfam_Cu_amine_oxidase_N2,pfam_Cu_amine_oxidase_N3,superfamily_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase - no_errors AOC1 HGNC ENSG00000002726 tier1 - - 37 0 0.00 48 4 7.69 AP3D1 0 genome.wustl.edu 37 19 2137743 2137743 + Missense_Mutation SNP A A G TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 19 2137743 2137743 A G SNP AP3D1 ENST00000355272 human ensembl 74_37 -1 known missense c.256 p.S86P 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_complex_dsu pfam_BLV_receptor,pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_complex_dsu - no_errors AP3D1 HGNC ENSG00000065000 44 0 0.00 45 4 8.16 AP3S1 0 genome.wustl.edu 37 5 115205713 115205713 + Splice_Site SNP G G T TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 5 115205713 115205713 G T SNP AP3S1 ENST00000316788 human ensembl 74_37 +1 known splice_site c.162-1 e3-1 1.000 - - - no_errors AP3S1 HGNC ENSG00000177879 50 0 0.00 61 4 6.15 AQP10 0 genome.wustl.edu 37 1 154295554 154295554 + Missense_Mutation SNP C C A TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 1 154295554 154295554 C A SNP AQP10 ENST00000324978 human ensembl 74_37 +1 known missense c.329 p.S110Y 1.000 pfam_MIP,superfamily_Aquaporin-like,prints_MIP,tigrfam_MIP pfam_MIP,superfamily_Aquaporin-like,prints_MIP,prints_Aquaporin_10,prints_Aquaporin_3,tigrfam_MIP - no_errors AQP10 HGNC ENSG00000143595 tier1 - - 56 0 0.00 65 4 5.80 ARHGAP28 0 genome.wustl.edu 37 18 6882161 6882161 + Missense_Mutation SNP A A C TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 18 6882161 6882161 A C SNP ARHGAP28 ENST00000400091 human ensembl 74_37 +1 known missense c.1316 p.K439T 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP28 HGNC ENSG00000088756 tier1 - - 56 0 0.00 45 6 11.76 ARPC4 0 genome.wustl.edu 37 3 9834826 9834826 + Silent SNP C C G TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 3 9834826 9834826 C G SNP ARPC4 ENST00000433034 human ensembl 74_37 +1 putative silent c.21 p.P7 0.040 NULL pfam_ARPC4 - no_errors ARPC4 HGNC ENSG00000241553 tier1 - - 56 0 0.00 31 19 38.00 ASIC5 0 genome.wustl.edu 37 4 156764860 156764860 + Silent SNP G G A TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 4 156764860 156764860 G A SNP ASIC5 ENST00000537611 human ensembl 74_37 -1 known silent c.834 p.H278 0.007 pfam_Na+channel_ASC pfam_Na+channel_ASC,prints_Na+channel_ASC - no_errors ASIC5 HGNC ENSG00000256394 tier1 - - 95 0 0.00 58 10 14.71 AZI1 0 genome.wustl.edu 37 17 79165000 79165000 + Missense_Mutation SNP C C T TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 17 79165000 79165000 C T SNP AZI1 ENST00000269392 human ensembl 74_37 -1 known missense c.2767 p.E923K 0.999 NULL superfamily_t-SNARE - no_errors AZI1 HGNC ENSG00000141577 tier1 - - 91 0 0.00 82 54 39.71 BARD1 0 genome.wustl.edu 37 2 215645798 215645798 + Missense_Mutation SNP G G T TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 2 215645798 215645798 G T SNP BARD1 ENST00000260947 human ensembl 74_37 -1 known missense c.800 p.T267K 0.000 NULL pfam_Ankyrin_rpt,pfam_BRCT_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_BRCT_dom,smart_Ankyrin_rpt,smart_BRCT_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BRCT_dom,pfscan_Znf_RING,prints_Ankyrin_rpt - no_errors BARD1 HGNC ENSG00000138376 tier1 - - 30 0 0.00 25 8 24.24 BLVRB 0 genome.wustl.edu 37 19 40964008 40964008 + Missense_Mutation SNP C C A TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 19 40964008 40964008 C A SNP BLVRB ENST00000597870 human ensembl 74_37 -1 known missense c.388 p.A130S 0.051 NULL pfam_NmrA,pfam_Epimerase_deHydtase,pfam_3Beta_OHSteriod_DH/Estase - no_errors BLVRB HGNC ENSG00000090013 tier1 - - 45 0 0.00 33 9 21.43 BMPR1B 0 genome.wustl.edu 37 4 96052397 96052397 + Silent SNP G G T TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 4 96052397 96052397 G T SNP BMPR1B ENST00000440890 human ensembl 74_37 +1 known silent c.900 p.G300 0.996 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,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_TGFB_receptor - no_errors BMPR1B HGNC ENSG00000138696 tier1 - - 51 0 0.00 63 4 5.97 BOD1L1 0 genome.wustl.edu 37 4 13601004 13601004 + Missense_Mutation SNP C C G TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 4 13601004 13601004 C G SNP BOD1L1 ENST00000040738 human ensembl 74_37 -1 known missense c.7520 p.G2507A 0.000 NULL NULL - no_errors BOD1L1 HGNC ENSG00000038219 tier1 - - 34 0 0.00 26 4 13.33 BRAT1 0 genome.wustl.edu 37 7 2581844 2581844 + Missense_Mutation SNP G G T TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 7 2581844 2581844 G T SNP BRAT1 ENST00000340611 human ensembl 74_37 -1 known missense c.925 p.P309T 0.999 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold - no_errors BRAT1 HGNC ENSG00000106009 tier1 - - 47 0 0.00 54 5 8.47 C1QTNF2 0 genome.wustl.edu 37 5 159776421 159776421 + Silent SNP G G A TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 5 159776421 159776421 G A SNP C1QTNF2 ENST00000393975 human ensembl 74_37 -1 known silent c.747 p.A249 1.000 pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QTNF2 HGNC ENSG00000145861 tier1 - - 41 0 0.00 19 4 17.39 C3AR1 0 genome.wustl.edu 37 12 8211653 8211653 + Nonsense_Mutation SNP G G A TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 12 8211653 8211653 G A SNP C3AR1 ENST00000307637 human ensembl 74_37 -1 known nonsense c.1129 p.R377* 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Anaphtx_C3AR1,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Anaphtx_C3AR1,prints_GPCR_Rhodpsn,prints_Anphylx_rcpt,prints_Formyl_pep_rcpt,prints_Anaphtx_C5AR1/C5AR2 - no_errors C3AR1 HGNC ENSG00000171860 tier1 - - 45 0 0.00 40 17 29.82 CACNA1A 0 genome.wustl.edu 37 19 13409467 13409467 + Missense_Mutation SNP C C T TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 19 13409467 13409467 C T SNP CACNA1A ENST00000360228 human ensembl 74_37 -1 known missense c.2980 p.E994K 0.992 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su - no_errors CACNA1A HGNC ENSG00000141837 25 0 0.00 14 3 17.65 CACNA1E 0 genome.wustl.edu 37 1 181767512 181767512 + Missense_Mutation SNP G G A TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 1 181767512 181767512 G A SNP CACNA1E ENST00000367573 human ensembl 74_37 +1 known missense c.6484 p.V2162I 0.914 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su - no_errors CACNA1E HGNC ENSG00000198216 tier1 - - 35 0 0.00 27 14 34.15 CACNA1I 0 genome.wustl.edu 37 22 40036989 40036989 + Silent SNP C C A TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 22 40036989 40036989 C A SNP CACNA1I ENST00000336649 human ensembl 74_37 +1 known silent c.858 p.L286 0.998 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1 - no_errors CACNA1I HGNC ENSG00000100346 47 0 0.00 38 2 5.00 CADPS 0 genome.wustl.edu 37 3 62385092 62385092 + Nonsense_Mutation SNP C C A TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 3 62385092 62385092 C A SNP CADPS ENST00000383710 human ensembl 74_37 -1 known nonsense c.4051 p.E1351* 1.000 NULL pfam_Ca-dep_secretion_activator,superfamily_C2_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors CADPS HGNC ENSG00000163618 tier1 - - 45 0 0.00 72 4 5.26 CCDC171 0 genome.wustl.edu 37 9 15920397 15920397 + Missense_Mutation SNP C C T TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 9 15920397 15920397 C T SNP CCDC171 ENST00000380701 human ensembl 74_37 +1 known missense c.3730 p.R1244C 1.000 NULL superfamily_STAT_TF_coiled-coil - no_errors CCDC171 HGNC ENSG00000164989 tier1 rs200767961 - 56 0 0.00 30 28 48.28 CCDC30 0 genome.wustl.edu 37 1 42986899 42986899 + Missense_Mutation SNP C C G TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 1 42986899 42986899 C G SNP CCDC30 ENST00000507855 human ensembl 74_37 +1 putative missense c.14 p.P5R 0.366 NULL NULL - no_errors CCDC30 HGNC ENSG00000186409 tier1 - - 14 0 0.00 13 12 48.00 CCDC73 0 genome.wustl.edu 37 11 32697568 32697568 + Splice_Site SNP C C A TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 11 32697568 32697568 C A SNP CCDC73 ENST00000335185 human ensembl 74_37 -1 known splice_site c.430-1 e7-1 1.000 - - - no_errors CCDC73 HGNC ENSG00000186714 32 0 0.00 47 3 6.00 CCNB3 0 genome.wustl.edu 37 X 50052652 50052652 + Missense_Mutation SNP C C T TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac X 50052652 50052652 C T SNP CCNB3 ENST00000276014 human ensembl 74_37 +1 known missense c.1483 p.H495Y 0.000 NULL pfam_Cyclin_N,pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNB3 HGNC ENSG00000147082 36 0 0.00 29 4 11.76 CD40LG 0 genome.wustl.edu 37 X 135738537 135738537 + Silent SNP G G A TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac X 135738537 135738537 G A SNP CD40LG ENST00000370629 human ensembl 74_37 +1 known silent c.369 p.A123 0.697 superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pirsf_TNF_ligand_5,pfscan_TNF_dom pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pirsf_TNF_ligand_5,pfscan_TNF_dom,prints_TNF_ligand_5 - no_errors CD40LG HGNC ENSG00000102245 tier1 rs148581967 - 25 0 0.00 35 13 27.08 CDC25B 0 genome.wustl.edu 37 20 3782599 3782599 + Missense_Mutation SNP G G A TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 20 3782599 3782599 G A SNP CDC25B ENST00000245960 human ensembl 74_37 +1 known missense c.950 p.R317Q 1.000 pfam_MPI_Phosphatase pfam_MPI_Phosphatase,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom,prints_MPI_Phosphatase - no_errors CDC25B HGNC ENSG00000101224 tier1 - - 54 0 0.00 50 7 12.28 CDH11 0 genome.wustl.edu 37 16 64984684 64984684 + Missense_Mutation SNP A A T TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 16 64984684 64984684 A T SNP CDH11 ENST00000268603 human ensembl 74_37 -1 known missense c.1880 p.I627N 1.000 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH11 HGNC ENSG00000140937 tier1 - - 51 0 0.00 40 12 23.08 CEACAM18 0 genome.wustl.edu 37 19 51983717 51983717 + Missense_Mutation SNP G G T TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 19 51983717 51983717 G T SNP CEACAM18 ENST00000451626 human ensembl 74_37 +1 known missense c.366 p.W122C 0.920 pfam_Ig_V-set,smart_Ig_sub pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors CEACAM18 HGNC ENSG00000213822 tier1 - - 75 0 0.00 62 4 6.06 CEBPE 0 genome.wustl.edu 37 14 23586975 23586975 + Silent SNP C C T TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 14 23586975 23586975 C T SNP CEBPE ENST00000206513 human ensembl 74_37 -1 known silent c.567 p.P189 0.004 pirsf_CCAAT/enhancer-binding pfam_bZIP,smart_bZIP,pirsf_CCAAT/enhancer-binding,pfscan_bZIP - no_errors CEBPE HGNC ENSG00000092067 tier1 - - 58 0 0.00 36 16 30.77 CELSR1 0 genome.wustl.edu 37 22 46805032 46805032 + Missense_Mutation SNP C C T TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 22 46805032 46805032 C T SNP CELSR1 ENST00000262738 human ensembl 74_37 -1 known missense c.5087 p.G1696D 0.994 superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR1 HGNC ENSG00000075275 tier1 - - 57 0 0.00 25 14 34.15 CHRM3 0 genome.wustl.edu 37 1 240072260 240072260 + Silent SNP T T G TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 1 240072260 240072260 T G SNP CHRM3 ENST00000255380 human ensembl 74_37 +1 known silent c.1509 p.T503 0.959 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M3_rcpt,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn - no_errors CHRM3 HGNC ENSG00000133019 tier1 - - 38 0 0.00 46 9 16.36 CHRNB2 0 genome.wustl.edu 37 1 154544295 154544295 + Silent SNP G G A TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 1 154544295 154544295 G A SNP CHRNB2 ENST00000368476 human ensembl 74_37 +1 known silent c.996 p.A332 0.543 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNB2 HGNC ENSG00000160716 tier1 - - 13 0 0.00 25 6 19.35 CNBD1 0 genome.wustl.edu 37 8 88365898 88365898 + Missense_Mutation SNP T T G TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 8 88365898 88365898 T G SNP CNBD1 ENST00000518476 human ensembl 74_37 +1 known missense c.1187 p.L396R 0.229 pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors CNBD1 HGNC ENSG00000176571 tier1 - - 97 0 0.00 90 43 32.33 CNGB3 0 genome.wustl.edu 37 8 87641284 87641284 + Missense_Mutation SNP G G T TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 8 87641284 87641284 G T SNP CNGB3 ENST00000320005 human ensembl 74_37 -1 known missense c.1343 p.A448D 1.000 NULL pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGB3 HGNC ENSG00000170289 tier1 - - 37 0 0.00 71 4 5.26 CNPY4 0 genome.wustl.edu 37 7 99722420 99722422 + In_Frame_Del DEL AGG AGG - TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 AGG AGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 7 99722420 99722422 AGG - DEL CNPY4 ENST00000262932 human ensembl 74_37 +1 known in_frame_del c.656_658 p.E223in_frame_del 0.045:0.040:0.133 NULL pfam_DUF3456 - no_errors CNPY4 HGNC ENSG00000166997 tier1 38 0 0.00 35 4 10.26 COL18A1 0 genome.wustl.edu 37 21 46902721 46902721 + Missense_Mutation SNP G G A TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 21 46902721 46902721 G A SNP COL18A1 ENST00000359759 human ensembl 74_37 +1 known missense c.2932 p.A978T 0.252 pfam_Collagen pfam_Collagenase_NC10/endostatin,pfam_DUF959_COL18_N,pfam_Collagen,pfam_Frizzled_dom,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,superfamily_Frizzled_dom,smart_Frizzled_dom,smart_Laminin_G,pfscan_Frizzled_dom - no_errors COL18A1 HGNC ENSG00000182871 tier1 rs201476017 - 67 0 0.00 26 22 45.83 COL24A1 0 genome.wustl.edu 37 1 86430711 86430711 + Missense_Mutation SNP G G T TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 1 86430711 86430711 G T SNP COL24A1 ENST00000370571 human ensembl 74_37 -1 known missense c.2498 p.P833Q 1.000 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL24A1 HGNC ENSG00000171502 tier1 - - 64 0 0.00 47 9 16.07 COL24A1 0 genome.wustl.edu 37 1 86430712 86430712 + Missense_Mutation SNP G G C TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 1 86430712 86430712 G C SNP COL24A1 ENST00000370571 human ensembl 74_37 -1 known missense c.2497 p.P833A 1.000 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL24A1 HGNC ENSG00000171502 tier1 - - 65 0 0.00 47 9 16.07 CPNE8 0 genome.wustl.edu 37 12 39047419 39047419 + RNA SNP T T A TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 12 39047419 39047419 T A SNP CPNE8 ENST00000546603 human ensembl 74_37 -1 known rna NULL NULL 0.031 - - - no_errors CPNE8 HGNC ENSG00000139117 tier1 - - 35 0 0.00 45 6 11.76 CT62 0 genome.wustl.edu 37 15 71404619 71404619 + Missense_Mutation SNP C C A TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 15 71404619 71404619 C A SNP CT62 ENST00000449977 human ensembl 74_37 -1 known missense c.3 p.M1I 0.000 NULL NULL - no_errors CT62 HGNC ENSG00000225362 tier1 - - 71 0 0.00 64 4 5.88 CTDSPL2 0 genome.wustl.edu 37 15 44776523 44776523 + Missense_Mutation SNP G G T TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 15 44776523 44776523 G T SNP CTDSPL2 ENST00000260327 human ensembl 74_37 +1 known missense c.288 p.Q96H 1.000 NULL pfam_NIF,superfamily_HAD-like_dom,smart_NIF,pfscan_NIF,tigrfam_Dullard_phosphatase - no_errors CTDSPL2 HGNC ENSG00000137770 tier1 - - 28 0 0.00 18 3 14.29 CUL9 0 genome.wustl.edu 37 6 43190586 43190589 + Frame_Shift_Del DEL CAGA CAGA - TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 CAGA CAGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 6 43190586 43190589 CAGA 0 DEL CUL9 ENST00000252050 human ensembl 74_37 +1 known frame_shift_del c.7102_7105 p.T2369fs 1.000:1.000:1.000:1.000 NULL pfam_Cullin_N,pfam_CPH_domain,pfam_Znf_C6HC,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,superfamily_UBA-like,smart_Cullin_neddylation_domain,smart_Znf_C6HC,pfscan_Znf_RING,pfscan_Cullin_homology - no_errors CUL9 HGNC ENSG00000112659 57 0 0.00 66 6 8.33 CYP17A1 0 genome.wustl.edu 37 10 104593587 104593587 + RNA SNP G G T TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 10 104593587 104593587 G T SNP CYP17A1 ENST00000489268 human ensembl 74_37 -1 known rna NULL NULL 0.004 - - - no_errors CYP17A1 HGNC ENSG00000148795 tier1 - - 9 0 0.00 5 7 58.33 DENND4C 0 genome.wustl.edu 37 9 19332129 19332129 + Missense_Mutation SNP G G A TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 9 19332129 19332129 G A SNP DENND4C ENST00000602925 human ensembl 74_37 +1 known missense c.2407 p.A803T 1.000 NULL pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND4C HGNC ENSG00000137145 tier1 - - 59 0 0.00 65 4 5.80 DGKA 0 genome.wustl.edu 37 12 56333042 56333042 + Missense_Mutation SNP G G A TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 12 56333042 56333042 G A SNP DGKA ENST00000331886 human ensembl 74_37 +1 known missense c.547 p.A183T 1.000 smart_EF_hand_dom,pfscan_EF_hand_dom pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_EF_hand_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_EF_hand_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors DGKA HGNC ENSG00000065357 44 0 0.00 70 4 5.33 DIDO1 0 genome.wustl.edu 37 20 61510960 61510961 + Frame_Shift_Del DEL CT CT - TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 20 61510960 61510961 CT - DEL DIDO1 ENST00000266070 human ensembl 74_37 -1 known frame_shift_del c.6348_6347 p.E2116fs 0.996:1.000 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger - no_errors DIDO1 HGNC ENSG00000101191 tier1 147 0 0.00 209 31 12.92 DNAH8 0 genome.wustl.edu 37 6 38690687 38690687 + Silent SNP G G T TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 6 38690687 38690687 G T SNP DNAH8 ENST00000449981 human ensembl 74_37 +1 known silent c.102 p.P34 0.076 NULL pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH8 HGNC ENSG00000124721 59 0 0.00 38 2 5.00 DNHD1 0 genome.wustl.edu 37 11 6567757 6567757 + Missense_Mutation SNP G G A TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 11 6567757 6567757 G A SNP DNHD1 ENST00000254579 human ensembl 74_37 +1 known missense c.5588 p.R1863H 0.800 NULL pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom,superfamily_P-loop_NTPase,superfamily_t-SNARE - no_errors DNHD1 HGNC ENSG00000179532 tier1 - - 46 0 0.00 46 7 13.21 DNM1P51 0 genome.wustl.edu 37 15 84957968 84957968 + RNA SNP G G A TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 15 84957968 84957968 G A SNP DNM1P51 ENST00000558801 human ensembl 74_37 -1 known rna NULL NULL 0.353 - - - no_errors DNM1P51 HGNC ENSG00000235370 tier1 - - 86 0 0.00 93 10 9.71 DONSON 0 genome.wustl.edu 37 21 34951796 34951796 + Missense_Mutation SNP G G T TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 21 34951796 34951796 G T SNP DONSON ENST00000303071 human ensembl 74_37 -1 known missense c.1423 p.P475T 1.000 NULL NULL - no_errors DONSON HGNC ENSG00000159147 99 0 0.00 70 4 5.41 DOPEY2 0 genome.wustl.edu 37 21 37636099 37636099 + Frame_Shift_Del DEL A A - TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 21 37636099 37636099 A - DEL DOPEY2 ENST00000399151 human ensembl 74_37 +1 known frame_shift_del c.5474 p.D1827fs 0.526 NULL pfam_Dopey_N - no_errors DOPEY2 HGNC ENSG00000142197 tier1 40 0 0.00 26 2 7.14 DPP4 0 genome.wustl.edu 37 2 162873639 162873639 + Missense_Mutation SNP G G T TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 2 162873639 162873639 G T SNP DPP4 ENST00000360534 human ensembl 74_37 -1 known missense c.1447 p.H483N 1.000 NULL pfam_Peptidase_S9B,pfam_Peptidase_S9 - no_errors DPP4 HGNC ENSG00000197635 tier1 - - 70 0 0.00 74 4 5.13 DPYD 0 genome.wustl.edu 37 1 98293720 98293720 + Missense_Mutation SNP G G T TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 1 98293720 98293720 G T SNP DPYD ENST00000370192 human ensembl 74_37 -1 known missense c.183 p.D61E 1.000 superfamily_Helical_ferredxn pfam_Dihydroorotate_DH_1_2,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_tRNA_hU_synthase,superfamily_Helical_ferredxn,prints_FAD_pyr_nucl-diS_OxRdtase,tigrfam_Dihydroorotate_DH - no_errors DPYD HGNC ENSG00000188641 25 0 0.00 46 4 8.00 DUSP22 0 genome.wustl.edu 37 6 348890 348890 + Missense_Mutation SNP G G A TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 6 348890 348890 G A SNP DUSP22 ENST00000419235 human ensembl 74_37 +1 known missense c.557 p.R186Q 1.000 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors DUSP22 HGNC ENSG00000112679 tier1 - - 52 0 0.00 31 9 22.50 DUSP4 0 genome.wustl.edu 37 8 29195866 29195866 + Nonsense_Mutation SNP G G T TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 8 29195866 29195866 G T SNP DUSP4 ENST00000240100 human ensembl 74_37 -1 known nonsense c.732 p.C244* 1.000 pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pirsf_MKP,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pirsf_MKP,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP - no_errors DUSP4 HGNC ENSG00000120875 54 0 0.00 30 2 6.25 EFR3B 0 genome.wustl.edu 37 2 25353471 25353471 + Missense_Mutation SNP G G A TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 2 25353471 25353471 G A SNP EFR3B ENST00000403714 human ensembl 74_37 +1 known missense c.821 p.C274Y 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors EFR3B HGNC ENSG00000084710 67 0 0.00 70 4 5.41 ENSG00000225335 0 genome.wustl.edu 37 22 18560843 18560843 + RNA SNP G G A TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 22 18560843 18560843 G A SNP ENSG00000225335 ENST00000607927 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors XXbac-B476C20.9 Clone_based_vega_gene ENSG00000225335 tier1 - - 20 0 0.00 27 8 22.86 ENSG00000230572 0 genome.wustl.edu 37 2 91893914 91893914 + RNA SNP C C T TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 2 91893914 91893914 C T SNP ENSG00000230572 ENST00000436174 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors AC027612.3 Clone_based_vega_gene ENSG00000230572 tier1 - - 250 0 0.00 247 17 6.44 ENSG00000234978 0 genome.wustl.edu 37 1 142803930 142803930 + RNA SNP A A G TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 1 142803930 142803930 A G SNP ENSG00000234978 ENST00000423385 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-423O2.5 Clone_based_vega_gene ENSG00000234978 19 0 0.00 22 3 12.00 ENSG00000248840 0 genome.wustl.edu 37 4 3314643 3314644 + RNA INS - - A TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 4 3314643 3314644 - A INS ENSG00000248840 ENST00000600073 human ensembl 74_37 +1 known rna NULL NULL 0.003:0.004 - - - no_errors RP11-357G3.2 Clone_based_vega_gene ENSG00000248840 tier1 29 0 0.00 17 3 15.00 ENSG00000257653 0 genome.wustl.edu 37 12 49160988 49160988 + RNA SNP C C A TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 12 49160988 49160988 C A SNP ENSG00000257653 ENST00000548742 human ensembl 74_37 +1 known rna NULL NULL 0.838 - - - no_errors RP11-579D7.2 Clone_based_vega_gene ENSG00000257653 tier1 - - 46 0 0.00 58 6 9.38 ENTHD1 0 genome.wustl.edu 37 22 40161372 40161372 + Missense_Mutation SNP G G T TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 22 40161372 40161372 G T SNP ENTHD1 ENST00000325157 human ensembl 74_37 -1 known missense c.1075 p.Q359K 1.000 NULL pfam_Epsin_dom_N,pfam_VHS,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N - no_errors ENTHD1 HGNC ENSG00000176177 tier1 - - 84 0 0.00 61 4 6.15 EP300 0 genome.wustl.edu 37 22 41572509 41572509 + Missense_Mutation SNP C C T TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 22 41572509 41572509 C T SNP EP300 ENST00000263253 human ensembl 74_37 +1 known missense c.5038 p.R1680C 0.969 pfam_Znf_ZZ,smart_Znf_ZZ,pfscan_Znf_ZZ 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 tier1 - - 20 0 0.00 16 5 23.81 EPB41L3 0 genome.wustl.edu 37 18 5438063 5438063 + Missense_Mutation SNP G G T TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 18 5438063 5438063 G T SNP EPB41L3 ENST00000341928 human ensembl 74_37 -1 known missense c.576 p.D192E 0.999 pirsf_Band_41_protein,pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Ez/rad/moesin_like pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB_dom,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors EPB41L3 HGNC ENSG00000082397 tier1 - - 41 0 0.00 33 6 15.38 FAM122A 0 genome.wustl.edu 37 9 71395725 71395725 + Missense_Mutation SNP G G T TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 9 71395725 71395725 G T SNP FAM122A ENST00000394264 human ensembl 74_37 +1 known missense c.645 p.K215N 1.000 NULL NULL - no_errors FAM122A HGNC ENSG00000187866 34 0 0.00 51 3 5.56 FAM194A 0 genome.wustl.edu 37 3 150421382 150421382 + Missense_Mutation SNP C C T TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 3 150421382 150421382 C T SNP FAM194A ENST00000295910 human ensembl 74_37 -1 known missense c.304 p.V102I 0.036 NULL NULL - no_errors FAM194A HGNC ENSG00000163645 46 0 0.00 53 4 7.02 FAM230A 0 genome.wustl.edu 37 22 20710091 20710091 + Missense_Mutation SNP C C T TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 22 20710091 20710091 C T SNP FAM230A ENST00000434783 human ensembl 74_37 +1 known missense c.1823 p.A608V 0.267 superfamily_Kinase-like_dom pfam_Ret-finger_pr-like_3_antisense,superfamily_Kinase-like_dom - no_errors FAM230A HGNC ENSG00000188280 tier1 - - 91 0 0.00 52 33 38.37 FAM47A 0 genome.wustl.edu 37 X 34148795 34148795 + Missense_Mutation SNP G G A TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac X 34148795 34148795 G A SNP FAM47A ENST00000346193 human ensembl 74_37 -1 known missense c.1601 p.P534L 0.002 NULL NULL - no_errors FAM47A HGNC ENSG00000185448 tier1 rs45535434 - 78 0 0.00 83 13 13.54 FAT4 0 genome.wustl.edu 37 4 126336053 126336053 + Silent SNP T T C TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 4 126336053 126336053 T C SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known silent c.5935 p.L1979 0.837 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin 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 - - 52 0 0.00 55 9 14.06 FBXO41 0 genome.wustl.edu 37 2 73487918 73487918 + Missense_Mutation SNP G G A TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 2 73487918 73487918 G A SNP FBXO41 ENST00000295133 human ensembl 74_37 -1 known missense c.2423 p.A808V 1.000 NULL superfamily_F-box_dom - no_errors FBXO41 HGNC ENSG00000163013 tier1 - - 90 0 0.00 87 12 12.12 FBXO42 0 genome.wustl.edu 37 1 16583183 16583183 + Missense_Mutation SNP A A G TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 1 16583183 16583183 A G SNP FBXO42 ENST00000375592 human ensembl 74_37 -1 known missense c.574 p.W192R 1.000 NULL pfam_Kelch_2,pfam_Kelch_1,pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom - no_errors FBXO42 HGNC ENSG00000037637 tier1 - - 54 0 0.00 68 10 12.82 FBXO42 0 genome.wustl.edu 37 1 16583184 16583184 + Silent SNP G G A TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 1 16583184 16583184 G A SNP FBXO42 ENST00000375592 human ensembl 74_37 -1 known silent c.573 p.G191 0.999 NULL pfam_Kelch_2,pfam_Kelch_1,pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom - no_errors FBXO42 HGNC ENSG00000037637 tier1 - - 53 0 0.00 67 11 14.10 FCHSD2 0 genome.wustl.edu 37 11 72552577 72552577 + Missense_Mutation SNP C C T TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 11 72552577 72552577 C T SNP FCHSD2 ENST00000409418 human ensembl 74_37 -1 known missense c.1978 p.D660N 1.000 superfamily_SH3_domain pfam_SH3_domain,pfam_FCH_dom,pfam_SH3_2,superfamily_SH3_domain,smart_FCH_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain,prints_SH3_domain - no_errors FCHSD2 HGNC ENSG00000137478 tier1 - - 80 0 0.00 64 22 25.58 FCRL5 0 genome.wustl.edu 37 1 157508906 157508906 + Missense_Mutation SNP G G C TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 1 157508906 157508906 G C SNP FCRL5 ENST00000356953 human ensembl 74_37 -1 known missense c.1372 p.R458G 0.000 smart_Ig_sub,pfscan_Ig-like_dom smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCRL5 HGNC ENSG00000143297 tier1 - - 83 0 0.00 74 14 15.91 FLG2 0 genome.wustl.edu 37 1 152327323 152327323 + Missense_Mutation SNP C C A TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 1 152327323 152327323 C A SNP FLG2 ENST00000388718 human ensembl 74_37 -1 known missense c.2939 p.G980V 0.002 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG2 HGNC ENSG00000143520 tier1 - - 160 0 0.00 141 60 29.70 FLRT2 0 genome.wustl.edu 37 14 86090075 86090075 + RNA DEL A A - TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 14 86090075 86090075 A - DEL FLRT2 ENST00000553650 human ensembl 74_37 +1 putative rna NULL NULL 1.000 - - - no_errors FLRT2 HGNC ENSG00000185070 tier1 46 0 0.00 35 9 20.45 FOLH1 0 genome.wustl.edu 37 11 49204790 49204790 + Silent SNP A A G TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 11 49204790 49204790 A G SNP FOLH1 ENST00000256999 human ensembl 74_37 -1 known silent c.831 p.Y277 1.000 NULL pfam_TFR-like_dimer_dom,pfam_Protease-assoc_domain,pfam_Peptidase_M28,superfamily_TFR-like_dimer_dom - no_errors FOLH1 HGNC ENSG00000086205 tier1 rs76509850 - 60 0 0.00 100 7 6.54 FTSJ2 0 genome.wustl.edu 37 7 2275007 2275007 + Missense_Mutation SNP T T A TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 7 2275007 2275007 T A SNP FTSJ2 ENST00000242257 human ensembl 74_37 -1 known missense c.491 p.D164V 0.009 pfam_rRNA_MeTrfase_FtsJ_dom,pirsf_rRNA-MeTfrase_E pfam_rRNA_MeTrfase_FtsJ_dom,pirsf_rRNA-MeTfrase_E - no_errors FTSJ2 HGNC ENSG00000122687 tier1 - - 54 0 0.00 51 7 12.07 GCN1L1 0 genome.wustl.edu 37 12 120578793 120578793 + Missense_Mutation SNP T T G TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 12 120578793 120578793 T G SNP GCN1L1 ENST00000300648 human ensembl 74_37 -1 known missense c.5864 p.K1955T 1.000 superfamily_ARM-type_fold pfam_DUF3554,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors GCN1L1 HGNC ENSG00000089154 tier1 - - 52 0 0.00 48 5 9.43 GNB2L1 0 genome.wustl.edu 37 5 180664622 180664622 + Missense_Mutation SNP G G T TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 5 180664622 180664622 G T SNP GNB2L1 ENST00000512805 human ensembl 74_37 -1 known missense c.875 p.S292Y 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors GNB2L1 HGNC ENSG00000204628 31 0 0.00 48 4 7.69 GNGT1 0 genome.wustl.edu 37 7 93540126 93540126 + Silent SNP A A C TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 7 93540126 93540126 A C SNP GNGT1 ENST00000248572 human ensembl 74_37 +1 known silent c.121 p.R41 0.458 pfam_G-protein_gamma-like_dom,superfamily_G-protein_gamma-like_dom,smart_G-protein_gamma-like_dom,pfscan_G-protein_gamma-like_dom,prints_Gprotein-gamma pfam_G-protein_gamma-like_dom,superfamily_G-protein_gamma-like_dom,smart_G-protein_gamma-like_dom,pfscan_G-protein_gamma-like_dom,prints_Gprotein-gamma - no_errors GNGT1 HGNC ENSG00000127928 tier1 - - 40 0 0.00 30 9 23.08 GPC6 0 genome.wustl.edu 37 13 94482417 94482417 + Silent SNP A A G TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 13 94482417 94482417 A G SNP GPC6 ENST00000377047 human ensembl 74_37 +1 known silent c.330 p.R110 1.000 pfam_Glypican pfam_Glypican - no_errors GPC6 HGNC ENSG00000183098 tier1 - - 54 0 0.00 59 26 30.59 GPR179 0 genome.wustl.edu 37 17 36499228 36499228 + Silent SNP G G A TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 17 36499228 36499228 G A SNP GPR179 ENST00000342292 human ensembl 74_37 -1 known silent c.445 p.L149 1.000 NULL pfam_GPCR_3_C,superfamily_Growth_fac_rcpt_N_dom,pfscan_GPCR_3_C - no_errors GPR179 HGNC ENSG00000188888 tier1 - - 50 0 0.00 46 4 8.00 GPR78 0 genome.wustl.edu 37 4 8584357 8584357 + Silent SNP G G A TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 4 8584357 8584357 G A SNP GPR78 ENST00000382487 human ensembl 74_37 +1 known silent c.768 p.P256 0.986 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR78 HGNC ENSG00000155269 30 0 0.00 53 3 5.36 HCAR2 0 genome.wustl.edu 37 12 123187350 123187350 + Missense_Mutation SNP G G A TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 12 123187350 123187350 G A SNP HCAR2 ENST00000328880 human ensembl 74_37 -1 known missense c.481 p.H161Y 0.427 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors HCAR2 HGNC ENSG00000182782 tier1 - - 45 0 0.00 43 15 25.86 HCN1 0 genome.wustl.edu 37 5 45267297 45267297 + Missense_Mutation SNP A A C TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 5 45267297 45267297 A C SNP HCN1 ENST00000303230 human ensembl 74_37 -1 known missense c.1677 p.C559W 0.959 pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG 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 - - 73 0 0.00 67 23 25.56 HDGFRP2 0 genome.wustl.edu 37 19 4493736 4493736 + Missense_Mutation SNP G G A TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 19 4493736 4493736 G A SNP HDGFRP2 ENST00000301284 human ensembl 74_37 +1 known missense c.715 p.D239N 0.481 NULL pfam_LEDGF,pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom - no_errors HDGFRP2 Uniprot_gn ENSG00000167674 tier1 - - 155 0 0.00 103 23 18.25 HEATR4 0 genome.wustl.edu 37 14 73969644 73969644 + Missense_Mutation SNP G G A TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 14 73969644 73969644 G A SNP HEATR4 ENST00000334988 human ensembl 74_37 -1 known missense c.2060 p.A687V 0.297 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold - no_errors HEATR4 HGNC ENSG00000187105 tier1 - - 54 0 0.00 51 16 23.88 HECW1 0 genome.wustl.edu 37 7 43447182 43447182 + Missense_Mutation SNP A A T TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 7 43447182 43447182 A T SNP HECW1 ENST00000395891 human ensembl 74_37 +1 known missense c.653 p.K218M 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_WW_dom,superfamily_C2_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom - no_errors HECW1 HGNC ENSG00000002746 tier1 - - 57 0 0.00 37 28 43.08 HIRA 0 genome.wustl.edu 37 22 19365551 19365551 + Missense_Mutation SNP G G A TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 22 19365551 19365551 G A SNP HIRA ENST00000263208 human ensembl 74_37 -1 known missense c.1454 p.S485L 1.000 NULL pfam_Hira,pfam_WD40_repeat,pfam_HIRA_B_motif,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors HIRA HGNC ENSG00000100084 tier1 - - 45 0 0.00 23 6 20.69 HIST1H1B 0 genome.wustl.edu 37 6 27835245 27835245 + Silent SNP C C T TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 6 27835245 27835245 C T SNP HIST1H1B ENST00000331442 human ensembl 74_37 -1 known silent c.63 p.K21 1.000 NULL pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5 - no_errors HIST1H1B HGNC ENSG00000184357 tier1 - - 89 0 0.00 65 38 36.89 HS3ST1 0 genome.wustl.edu 37 4 11400914 11400914 + Missense_Mutation SNP G G T TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 4 11400914 11400914 G T SNP HS3ST1 ENST00000002596 human ensembl 74_37 -1 known missense c.716 p.P239Q 1.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors HS3ST1 HGNC ENSG00000002587 36 0 0.00 40 4 9.09 HUS1B 0 genome.wustl.edu 37 6 656472 656472 + Missense_Mutation SNP C C T TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 6 656472 656472 C T SNP HUS1B ENST00000380907 human ensembl 74_37 -1 known missense c.473 p.R158H 0.000 pfam_Hus1/Mec3,pirsf_Cell_cycle_HUS1 pfam_Hus1/Mec3,pirsf_Cell_cycle_HUS1 - no_errors HUS1B HGNC ENSG00000188996 tier1 - - 41 0 0.00 38 18 31.58 IKBKAP 0 genome.wustl.edu 37 9 111665946 111665946 + Silent SNP T T A TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 9 111665946 111665946 T A SNP IKBKAP ENST00000374647 human ensembl 74_37 -1 known silent c.1647 p.S549 0.393 pfam_IKI3,pirsf_IKI3 pfam_IKI3,superfamily_ARM-type_fold,superfamily_UBA-like,pirsf_IKI3 - no_errors IKBKAP HGNC ENSG00000070061 tier1 - - 37 0 0.00 26 19 42.22 ISLR2 0 genome.wustl.edu 37 15 74426478 74426478 + Silent SNP C C T TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 15 74426478 74426478 C T SNP ISLR2 ENST00000361742 human ensembl 74_37 +1 known silent c.1383 p.N461 0.008 NULL pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Ig-like_dom - no_errors ISLR2 HGNC ENSG00000167178 tier1 - - 28 0 0.00 22 6 21.43 KAT6B 0 genome.wustl.edu 37 10 76781008 76781008 + Missense_Mutation SNP G G T TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 10 76781008 76781008 G T SNP KAT6B ENST00000287239 human ensembl 74_37 +1 known missense c.2986 p.A996S 1.000 NULL pfam_MOZ_SAS,pfam_Znf_PHD-finger,pfam_Histone_H1/H5_H15,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5_H15,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors KAT6B HGNC ENSG00000156650 48 0 0.00 63 4 5.97 KIAA1239 0 genome.wustl.edu 37 4 37445228 37445228 + Missense_Mutation SNP C C T TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 4 37445228 37445228 C T SNP KIAA1239 ENST00000309447 human ensembl 74_37 +1 known missense c.1618 p.R540W 0.984 superfamily_P-loop_NTPase superfamily_WD40_repeat_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors KIAA1239 HGNC ENSG00000174145 tier1 - - 54 0 0.00 32 15 31.25 KIAA1407 0 genome.wustl.edu 37 3 113753830 113753830 + Missense_Mutation SNP C C T TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 3 113753830 113753830 C T SNP KIAA1407 ENST00000295878 human ensembl 74_37 -1 known missense c.760 p.V254M 1.000 NULL NULL - no_errors KIAA1407 HGNC ENSG00000163617 tier1 - - 101 0 0.00 83 17 17.00 KLF16 0 genome.wustl.edu 37 19 1854587 1854587 + Silent SNP G G A TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 19 1854587 1854587 G A SNP KLF16 ENST00000250916 human ensembl 74_37 -1 known silent c.630 p.P210 0.913 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF16 HGNC ENSG00000129911 tier1 - - 28 0 0.00 13 4 23.53 KLHL40 0 genome.wustl.edu 37 3 42733464 42733464 + Silent SNP G G A TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 3 42733464 42733464 G A SNP KLHL40 ENST00000287777 human ensembl 74_37 +1 known silent c.1845 p.V615 1.000 pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL40 HGNC ENSG00000157119 tier1 - - 59 0 0.00 37 4 9.76 LAMA1 0 genome.wustl.edu 37 18 7036038 7036038 + Missense_Mutation SNP G G A TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 18 7036038 7036038 G A SNP LAMA1 ENST00000389658 human ensembl 74_37 -1 known missense c.1787 p.P596L 1.000 pfam_Laminin_B_type_IV,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA1 HGNC ENSG00000101680 tier1 rs139065838 - 66 0 0.00 52 13 20.00 LAMA3 0 genome.wustl.edu 37 18 21481106 21481106 + Missense_Mutation SNP G G T TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 18 21481106 21481106 G T SNP LAMA3 ENST00000313654 human ensembl 74_37 +1 known missense c.6020 p.R2007M 0.185 pfam_Laminin_I pfam_EGF_laminin,pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Growth_fac_rcpt_N_dom,superfamily_Galactose-bd-like,superfamily_STAT_TF_coiled-coil,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA3 HGNC ENSG00000053747 tier1 - - 44 0 0.00 67 4 5.63 LCN12 0 genome.wustl.edu 37 9 139848724 139848724 + RNA SNP G G T TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 9 139848724 139848724 G T SNP LCN12 ENST00000463714 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors LCN12 HGNC ENSG00000184925 tier1 - - 49 0 0.00 52 4 7.14 LCN8 0 genome.wustl.edu 37 9 139650580 139650580 + RNA SNP G G A TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 9 139650580 139650580 G A SNP LCN8 ENST00000482893 human ensembl 74_37 -1 known rna NULL NULL 0.012 - - - no_errors LCN8 HGNC ENSG00000204001 tier1 - - 124 0 0.00 100 11 9.91 LIX1L 0 genome.wustl.edu 37 1 145498738 145498738 + Missense_Mutation SNP C C T TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 1 145498738 145498738 C T SNP LIX1L ENST00000369308 human ensembl 74_37 +1 known missense c.974 p.A325V 1.000 NULL NULL - no_errors LIX1L HGNC ENSG00000152022 tier1 - - 43 0 0.00 65 4 5.80 LMNA 0 genome.wustl.edu 37 1 156084801 156084803 + In_Frame_Del DEL AGA AGA - TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 1 156084801 156084803 AGA - DEL LMNA ENST00000368300 human ensembl 74_37 +1 known in_frame_del c.92_94 p.K32in_frame_del 1.000:1.000:1.000 pfam_IF pfam_IF,pfam_Lamin_tail_dom,superfamily_Prefoldin - no_errors LMNA HGNC ENSG00000160789 tier1 52 0 0.00 41 7 14.58 LRP2 0 genome.wustl.edu 37 2 170025142 170025142 + Nonsense_Mutation SNP C C A TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 2 170025142 170025142 C A SNP LRP2 ENST00000263816 human ensembl 74_37 -1 known nonsense c.11542 p.E3848* 1.000 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP2 HGNC ENSG00000081479 tier1 - - 65 0 0.00 52 11 17.46 LRRC43 0 genome.wustl.edu 37 12 122684775 122684775 + Missense_Mutation SNP G G T TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 12 122684775 122684775 G T SNP LRRC43 ENST00000339777 human ensembl 74_37 +1 known missense c.1389 p.E463D 0.003 NULL NULL - no_errors LRRC43 HGNC ENSG00000158113 31 0 0.00 35 2 5.41 LRRTM1 0 genome.wustl.edu 37 2 80530905 80530905 + Silent SNP G G A TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 2 80530905 80530905 G A SNP LRRTM1 ENST00000295057 human ensembl 74_37 -1 known silent c.40 p.L14 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRTM1 HGNC ENSG00000162951 69 0 0.00 68 4 5.56 LRTM2 0 genome.wustl.edu 37 12 1937326 1937326 + Silent SNP G G T TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 12 1937326 1937326 G T SNP LRTM2 ENST00000299194 human ensembl 74_37 +1 known silent c.12 p.P4 0.032 NULL pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRTM2 HGNC ENSG00000166159 tier1 - - 18 0 0.00 19 7 26.92 MAMLD1 0 genome.wustl.edu 37 X 149639339 149639339 + Missense_Mutation SNP G G T TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac X 149639339 149639339 G T SNP MAMLD1 ENST00000432680 human ensembl 74_37 +1 known missense c.1419 p.Q473H 0.000 NULL NULL - no_errors MAMLD1 HGNC ENSG00000013619 tier1 - - 16 0 0.00 10 5 33.33 MARCH11 0 genome.wustl.edu 37 5 16091158 16091158 + Missense_Mutation SNP T T G TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 5 16091158 16091158 T G SNP MARCH11 ENST00000332432 human ensembl 74_37 -1 known missense c.726 p.K242N 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH - no_errors MARCH11 HGNC ENSG00000183654 tier1 - - 78 0 0.00 64 24 26.97 MAST1 0 genome.wustl.edu 37 19 12977490 12977490 + Missense_Mutation SNP G G T TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 19 12977490 12977490 G T SNP MAST1 ENST00000251472 human ensembl 74_37 +1 known missense c.2053 p.V685L 1.000 superfamily_Kinase-like_dom pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom - no_errors MAST1 HGNC ENSG00000105613 tier1 - - 19 0 0.00 10 3 23.08 MBTPS1 0 genome.wustl.edu 37 16 84094328 84094328 + Missense_Mutation SNP G G T TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 16 84094328 84094328 G T SNP MBTPS1 ENST00000343411 human ensembl 74_37 -1 known missense c.2663 p.P888H 1.000 NULL pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom,prints_Peptidase_S8_subtilisin-rel - no_errors MBTPS1 HGNC ENSG00000140943 tier1 - - 44 0 0.00 52 4 7.02 MEOX1 0 genome.wustl.edu 37 17 41738609 41738609 + Missense_Mutation SNP G G T TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 17 41738609 41738609 G T SNP MEOX1 ENST00000549132 human ensembl 74_37 -1 known missense c.206 p.S69Y 0.976 NULL superfamily_Homeodomain-like,pfscan_Homeobox_dom - no_errors MEOX1 HGNC ENSG00000005102 tier1 - - 40 0 0.00 54 4 6.90 METAP1 0 genome.wustl.edu 37 4 99960579 99960579 + Missense_Mutation SNP C C T TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 4 99960579 99960579 C T SNP METAP1 ENST00000296411 human ensembl 74_37 +1 known missense c.395 p.S132L 1.000 superfamily_Pept_M24_structural-domain,tigrfam_Pept_M24A_MAP1 pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain,prints_Pept_M24_MAP,tigrfam_Pept_M24A_MAP1 - no_errors METAP1 HGNC ENSG00000164024 tier1 - - 58 0 0.00 36 15 29.41 METTL4 0 genome.wustl.edu 37 18 2563854 2563854 + Missense_Mutation SNP C C A TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 18 2563854 2563854 C A SNP METTL4 ENST00000574538 human ensembl 74_37 -1 known missense c.401 p.R134L 0.986 NULL pfam_MT-A70-like,pfscan_MT-A70-like - no_errors METTL4 HGNC ENSG00000101574 32 0 0.00 30 2 6.25 MFN2 0 genome.wustl.edu 37 1 12064971 12064971 + Missense_Mutation SNP G G T TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 1 12064971 12064971 G T SNP MFN2 ENST00000235329 human ensembl 74_37 +1 known missense c.1482 p.Q494H 1.000 superfamily_P-loop_NTPase pfam_Fzo/mitofusin_HR2,pfam_Dynamin_GTPase,superfamily_P-loop_NTPase - no_errors MFN2 HGNC ENSG00000116688 tier1 - - 30 0 0.00 41 4 8.89 MICAL2 0 genome.wustl.edu 37 11 12241963 12241963 + Silent SNP G G A TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 11 12241963 12241963 G A SNP MICAL2 ENST00000256194 human ensembl 74_37 +1 known silent c.1164 p.A388 0.000 superfamily_CH-domain pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,pfam_FAD_bind_dom,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like - no_errors MICAL2 HGNC ENSG00000133816 30 0 0.00 56 3 5.08 MMEL1 0 genome.wustl.edu 37 1 2560819 2560821 + In_Frame_Del DEL CAG CAG - TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 CAG CAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 1 2560819 2560821 CAG 0 DEL MMEL1 ENST00000378412 human ensembl 74_37 -1 known in_frame_del c.105_103 p.L35in_frame_del 0.932:0.974:0.981 NULL pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors MMEL1 HGNC ENSG00000142606 13 0 0.00 7 2 22.22 MROH2B 0 genome.wustl.edu 37 5 40999877 40999877 + Missense_Mutation SNP T T G TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 5 40999877 40999877 T G SNP MROH2B ENST00000399564 human ensembl 74_37 -1 known missense c.4487 p.K1496T 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MROH2B HGNC ENSG00000171495 tier1 - - 65 0 0.00 54 21 28.00 MSMO1 0 genome.wustl.edu 37 4 166254571 166254571 + Missense_Mutation SNP G G T TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 4 166254571 166254571 G T SNP MSMO1 ENST00000261507 human ensembl 74_37 +1 known missense c.49 p.V17L 1.000 NULL pfam_Fatty_acid_hydroxylase - no_errors MSMO1 HGNC ENSG00000052802 tier1 - - 77 0 0.00 73 8 9.88 MTHFD1 0 genome.wustl.edu 37 14 64882088 64882088 + Missense_Mutation SNP A A G TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 14 64882088 64882088 A G SNP MTHFD1 ENST00000216605 human ensembl 74_37 +1 known missense c.253 p.I85V 0.028 pfam_THF_DH/CycHdrlase_cat_dom,prints_THF_DH/CycHdrlase pfam_Formate_THF_ligase,pfam_THF_DH/CycHdrlase_NAD-bd_dom,pfam_THF_DH/CycHdrlase_cat_dom,superfamily_P-loop_NTPase,prints_THF_DH/CycHdrlase - no_errors MTHFD1 HGNC ENSG00000100714 tier1 - - 62 0 0.00 54 4 6.90 MUC16 0 genome.wustl.edu 37 19 9090016 9090016 + Missense_Mutation SNP G G A TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 19 9090016 9090016 G A SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.1799 p.T600I 0.146 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 55 0 0.00 34 11 24.44 MUC6 0 genome.wustl.edu 37 11 1016221 1016224 + Frame_Shift_Del DEL CAGA CAGA - TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 CAGA CAGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 11 1016221 1016224 CAGA - DEL MUC6 ENST00000421673 human ensembl 74_37 -1 known frame_shift_del c.6580_6577 p.S2193fs 0.000:0.000:0.002:0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors MUC6 HGNC ENSG00000184956 tier1 21 0 0.00 22 10 31.25 MUC6 0 genome.wustl.edu 37 11 1026436 1026436 + Missense_Mutation SNP G G A TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 11 1026436 1026436 G A SNP MUC6 ENST00000421673 human ensembl 74_37 -1 known missense c.2437 p.L813F 0.965 pfam_TIL_dom,superfamily_TIL_dom pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors MUC6 HGNC ENSG00000184956 tier1 - - 47 0 0.00 40 14 25.93 MYO1C 0 genome.wustl.edu 37 17 1382889 1382889 + Silent SNP G G A TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 17 1382889 1382889 G A SNP MYO1C ENST00000359786 human ensembl 74_37 -1 known silent c.1017 p.T339 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO1C HGNC ENSG00000197879 tier1 rs146685153 - 43 0 0.00 37 20 35.09 NDST2 0 genome.wustl.edu 37 10 75565523 75565523 + Missense_Mutation SNP C C T TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 10 75565523 75565523 C T SNP NDST2 ENST00000309979 human ensembl 74_37 -1 known missense c.1568 p.S523N 1.000 NULL pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors NDST2 HGNC ENSG00000166507 61 0 0.00 66 4 5.71 NEB 0 genome.wustl.edu 37 2 152450810 152450810 + Missense_Mutation SNP C C T TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 2 152450810 152450810 C T SNP NEB ENST00000397345 human ensembl 74_37 -1 known missense c.14228 p.R4743H 0.999 pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 tier1 - - 44 0 0.00 52 14 21.21 NFASC 0 genome.wustl.edu 37 1 204978801 204978801 + Missense_Mutation SNP G G A TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 1 204978801 204978801 G A SNP NFASC ENST00000367172 human ensembl 74_37 +1 known missense c.3727 p.G1243S 0.998 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,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 NFASC HGNC ENSG00000163531 tier1 - - 33 0 0.00 35 11 23.91 NFE2L2 0 genome.wustl.edu 37 2 178095854 178095854 + Missense_Mutation SNP C C T TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 2 178095854 178095854 C T SNP NFE2L2 ENST00000397062 human ensembl 74_37 -1 known missense c.1477 p.A493T 1.000 superfamily_TF_DNA-bd pfam_bZIP,superfamily_TF_DNA-bd,superfamily_Serpin_dom,smart_bZIP,pfscan_bZIP - no_errors NFE2L2 HGNC ENSG00000116044 tier1 - - 27 0 0.00 28 5 15.15 NFKB1 0 genome.wustl.edu 37 4 103451072 103451072 + Splice_Site SNP G G C TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 4 103451072 103451072 G C SNP NFKB1 ENST00000226574 human ensembl 74_37 +1 known splice_site c.118+1 e2+1 1.000 - - - no_errors NFKB1 HGNC ENSG00000109320 tier1 - - 79 0 0.00 75 10 11.76 NGF 0 genome.wustl.edu 37 1 115829298 115829298 + Missense_Mutation SNP A A C TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 1 115829298 115829298 A C SNP NGF ENST00000369512 human ensembl 74_37 -1 known missense c.119 p.L40R 0.157 pirsf_Nerve_growth_factor-like,prints_Nerve_growth_factor_bsu_mml pirsf_Nerve_growth_factor-like,pfam_Nerve_growth_factor-rel,smart_Nerve_growth_factor-rel,prints_Nerve_growth_factor-rel,prints_Nerve_growth_factor_bsu_mml,prints_Nerve_growth_factor_bsu,pfscan_Nerve_growth_factor-rel - no_errors NGF HGNC ENSG00000134259 tier1 - - 43 0 0.00 36 14 28.00 NKAPL 0 genome.wustl.edu 37 6 28227923 28227923 + Missense_Mutation SNP G G T TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 6 28227923 28227923 G T SNP NKAPL ENST00000343684 human ensembl 74_37 +1 known missense c.774 p.E258D 0.991 NULL pfam_DUF926 - no_errors NKAPL HGNC ENSG00000189134 tier1 - - 32 0 0.00 63 4 5.97 NME8 0 genome.wustl.edu 37 7 37924817 37924817 + Missense_Mutation SNP A A G TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 7 37924817 37924817 A G SNP NME8 ENST00000199447 human ensembl 74_37 +1 known missense c.1210 p.R404G 0.898 pfam_Nucleoside_diP_kinase,superfamily_Nucleoside_diP_kinase,smart_Nucleoside_diP_kinase pfam_Nucleoside_diP_kinase,pfam_Thioredoxin_domain,superfamily_Nucleoside_diP_kinase,superfamily_Thioredoxin-like_fold,smart_Nucleoside_diP_kinase - no_errors NME8 HGNC ENSG00000086288 tier1 - - 64 0 0.00 64 25 28.09 NPBWR1 0 genome.wustl.edu 37 8 53852661 53852661 + Missense_Mutation SNP C C T TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 8 53852661 53852661 C T SNP NPBWR1 ENST00000331251 human ensembl 74_37 +1 known missense c.194 p.A65V 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY_rcpt,prints_Opioid_rcpt 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 tier1 - - 61 0 0.00 55 10 15.38 NPEPL1 0 genome.wustl.edu 37 20 57269565 57269565 + Missense_Mutation SNP C C T TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 20 57269565 57269565 C T SNP NPEPL1 ENST00000356091 human ensembl 74_37 +1 known missense c.424 p.R142W 0.038 NULL pfam_Peptidase_M17_C,prints_Leucine_aapep/pepB - no_errors NPEPL1 HGNC ENSG00000215440 tier1 - - 53 0 0.00 63 5 7.35 NR2C2 0 genome.wustl.edu 37 3 15084383 15084383 + Missense_Mutation SNP G G T TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 3 15084383 15084383 G T SNP NR2C2 ENST00000323373 human ensembl 74_37 +1 known missense c.1716 p.M572I 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_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_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt - no_errors NR2C2 HGNC ENSG00000177463 74 0 0.00 66 4 5.71 NUP107 0 genome.wustl.edu 37 12 69103086 69103086 + Missense_Mutation SNP T T A TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 12 69103086 69103086 T A SNP NUP107 ENST00000229179 human ensembl 74_37 +1 known missense c.798 p.S266R 1.000 pfam_Nup84_Nup100 pfam_Nup84_Nup100 - no_errors NUP107 HGNC ENSG00000111581 tier1 - - 29 0 0.00 50 9 15.25 NUP188 0 genome.wustl.edu 37 9 131765654 131765654 + Missense_Mutation SNP C C A TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 9 131765654 131765654 C A SNP NUP188 ENST00000372577 human ensembl 74_37 +1 known missense c.4355 p.T1452N 1.000 NULL pfam_Nucleoporin_Nup188,superfamily_ARM-type_fold - no_errors NUP188 HGNC ENSG00000095319 tier1 - - 52 0 0.00 42 6 12.50 NUP93 0 genome.wustl.edu 37 16 56871629 56871629 + Missense_Mutation SNP T T G TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 16 56871629 56871629 T G SNP NUP93 ENST00000308159 human ensembl 74_37 +1 known missense c.2009 p.I670S 1.000 pfam_Nucleoporin_int_Nup93/Nic96 pfam_Nucleoporin_int_Nup93/Nic96 - no_errors NUP93 HGNC ENSG00000102900 tier1 - - 28 0 0.00 24 12 33.33 OR1C1 0 genome.wustl.edu 37 1 247921595 247921595 + Silent SNP G G T TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 1 247921595 247921595 G T SNP OR1C1 ENST00000408896 human ensembl 74_37 -1 known silent c.114 p.T38 0.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1C1 HGNC ENSG00000221888 tier1 - - 42 0 0.00 40 12 23.08 OR4S2 0 genome.wustl.edu 37 11 55419138 55419138 + Silent SNP T T A TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 11 55419138 55419138 T A SNP OR4S2 ENST00000312422 human ensembl 74_37 +1 known silent c.759 p.T253 0.004 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4S2 HGNC ENSG00000174982 tier1 - - 78 0 0.00 75 22 22.68 OR51A4 0 genome.wustl.edu 37 11 4967768 4967768 + Missense_Mutation SNP T T G TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 11 4967768 4967768 T G SNP OR51A4 ENST00000380373 human ensembl 74_37 -1 known missense c.563 p.K188T 0.003 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 OR51A4 HGNC ENSG00000205497 tier1 - - 64 0 0.00 54 15 21.74 OR52N5 0 genome.wustl.edu 37 11 5799194 5799194 + Missense_Mutation SNP G G T TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 11 5799194 5799194 G T SNP OR52N5 ENST00000317093 human ensembl 74_37 -1 known missense c.671 p.S224Y 0.170 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt - no_errors OR52N5 HGNC ENSG00000181009 tier1 - - 17 0 0.00 8 18 69.23 OR6P1 0 genome.wustl.edu 37 1 158532850 158532850 + Missense_Mutation SNP G G T TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 1 158532850 158532850 G T SNP OR6P1 ENST00000334632 human ensembl 74_37 -1 known missense c.545 p.S182Y 0.074 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 OR6P1 HGNC ENSG00000186440 tier1 - - 17 0 0.00 19 9 32.14 OR6P1 0 genome.wustl.edu 37 1 158532991 158532991 + Missense_Mutation SNP A A G TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 1 158532991 158532991 A G SNP OR6P1 ENST00000334632 human ensembl 74_37 -1 known missense c.404 p.L135P 0.972 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 OR6P1 HGNC ENSG00000186440 tier1 - - 31 0 0.00 35 19 34.55 OR7D2 0 genome.wustl.edu 37 19 9296619 9296619 + Missense_Mutation SNP C C A TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 19 9296619 9296619 C A SNP OR7D2 ENST00000344248 human ensembl 74_37 +1 known missense c.162 p.H54Q 0.709 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR7D2 HGNC ENSG00000188000 tier1 - - 126 0 0.00 68 18 20.93 OR8I2 0 genome.wustl.edu 37 11 55861318 55861318 + Missense_Mutation SNP G G A TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 11 55861318 55861318 G A SNP OR8I2 ENST00000302124 human ensembl 74_37 +1 known missense c.535 p.D179N 1.000 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 OR8I2 HGNC ENSG00000172154 tier1 rs140511525 - 28 0 0.00 40 11 21.57 OTOG 0 genome.wustl.edu 37 11 17629884 17629884 + Missense_Mutation SNP C C T TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 11 17629884 17629884 C T SNP OTOG ENST00000399391 human ensembl 74_37 +1 known missense c.4234 p.R1412C 1.000 superfamily_TIL_dom pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_AbfB,pfam_TIL_dom,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom - no_errors OTOG HGNC ENSG00000188162 tier1 - - 36 0 0.00 46 17 26.56 OVCH1 0 genome.wustl.edu 37 12 29628122 29628122 + Missense_Mutation SNP G G A TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 12 29628122 29628122 G A SNP OVCH1 ENST00000318184 human ensembl 74_37 -1 known missense c.1472 p.A491V 0.738 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_Peptidase_S1,pfam_CUB_dom,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,smart_Peptidase_S1,smart_CUB_dom,pfscan_CUB_dom,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors OVCH1 HGNC ENSG00000187950 tier1 - - 51 0 0.00 64 15 18.99 PAPLN 0 genome.wustl.edu 37 14 73730411 73730411 + Missense_Mutation SNP C C T TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 14 73730411 73730411 C T SNP PAPLN ENST00000427855 human ensembl 74_37 +1 known missense c.2782 p.R928W 0.001 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Prot_inh_Kunz-m,pfam_PLAC,superfamily_Prot_inh_Kunz-m,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Prot_inh_Kunz-m,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Prot_inh_Kunz-m,pfscan_Ig-like_dom,prints_Peptidase_M12B_ADAM-TS,prints_Prot_inh_Kunz-m - no_errors PAPLN HGNC ENSG00000100767 43 0 0.00 51 3 5.45 PAQR3 0 genome.wustl.edu 37 4 79847847 79847847 + Missense_Mutation SNP G G T TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 4 79847847 79847847 G T SNP PAQR3 ENST00000511594 human ensembl 74_37 -1 known missense c.530 p.T177K 0.998 pfam_HlyIII-related pfam_HlyIII-related - no_errors PAQR3 HGNC ENSG00000163291 55 0 0.00 67 4 5.63 PCDH15 0 genome.wustl.edu 37 10 55973782 55973782 + Missense_Mutation SNP A A G TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 10 55973782 55973782 A G SNP PCDH15 ENST00000320301 human ensembl 74_37 -1 known missense c.1012 p.F338L 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 32 0 0.00 72 4 5.26 PCDH9 0 genome.wustl.edu 37 13 67802557 67802557 + Missense_Mutation SNP A A T TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 13 67802557 67802557 A T SNP PCDH9 ENST00000377865 human ensembl 74_37 -1 known missense c.16 p.F6I 1.000 NULL pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH9 HGNC ENSG00000184226 tier1 - - 86 0 0.00 69 45 39.47 PCSK4 0 genome.wustl.edu 37 19 1481832 1481832 + Missense_Mutation SNP G G T TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 19 1481832 1481832 G T SNP PCSK4 ENST00000300954 human ensembl 74_37 -1 known missense c.2194 p.P732T 0.006 NULL pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK4 HGNC ENSG00000115257 tier1 - - 26 0 0.00 16 4 20.00 PDE4D 0 genome.wustl.edu 37 5 58882168 58882168 + Missense_Mutation SNP G G T TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 5 58882168 58882168 G T SNP PDE4D ENST00000360047 human ensembl 74_37 -1 known missense c.34 p.H12N 1.000 NULL pfam_PDEase_catalytic_dom,prints_PDEase - no_errors PDE4D HGNC ENSG00000113448 tier1 - - 73 0 0.00 59 4 6.35 PDK3 0 genome.wustl.edu 37 X 24552067 24552067 + Nonsense_Mutation SNP G G T TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac X 24552067 24552067 G T SNP PDK3 ENST00000441463 human ensembl 74_37 +1 known nonsense c.1099 p.E367* 1.000 NULL pfam_BCDHK/PDK_N,pfam_HATPase_ATP-bd,superfamily_BCDHK/PDK_N,superfamily_HATPase_ATP-bd,smart_HATPase_ATP-bd,pfscan_Sig_transdc_His_kinase_core - no_errors PDK3 HGNC ENSG00000067992 tier1 - - 76 0 0.00 72 4 5.26 PENK 0 genome.wustl.edu 37 8 57358362 57358362 + Missense_Mutation SNP G G A TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 8 57358362 57358362 G A SNP PENK ENST00000518770 human ensembl 74_37 -1 putative missense c.151 p.R51C 0.001 NULL pfam_Opioid_neupept,prints_Proenkphlin_A - no_errors PENK HGNC ENSG00000181195 tier1 - - 60 0 0.00 61 15 19.74 PHKA2 0 genome.wustl.edu 37 X 18912339 18912339 + Silent SNP G G A TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac X 18912339 18912339 G A SNP PHKA2 ENST00000379942 human ensembl 74_37 -1 known silent c.3520 p.L1174 1.000 NULL pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like - no_errors PHKA2 HGNC ENSG00000044446 tier1 - - 42 0 0.00 56 4 6.67 PHYKPL 0 genome.wustl.edu 37 5 177658468 177658468 + Missense_Mutation SNP C C T TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 5 177658468 177658468 C T SNP PHYKPL ENST00000308158 human ensembl 74_37 -1 known missense c.116 p.G39E 1.000 pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase - no_errors PHYKPL HGNC ENSG00000175309 tier1 - - 42 0 0.00 33 21 38.89 PIFO 0 genome.wustl.edu 37 1 111891292 111891292 + RNA SNP A A T TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 1 111891292 111891292 A T SNP PIFO ENST00000484512 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors PIFO HGNC ENSG00000173947 tier1 - - 55 0 0.00 58 6 9.38 PLTP 0 genome.wustl.edu 37 20 44533745 44533745 + Missense_Mutation SNP G G A TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 20 44533745 44533745 G A SNP PLTP ENST00000542937 human ensembl 74_37 -1 known missense c.778 p.P260S 0.962 pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N pfam_Lipid-bd_serum_glycop_C,pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C - no_errors PLTP HGNC ENSG00000100979 tier1 - - 21 0 0.00 15 7 31.82 PLXNA2 0 genome.wustl.edu 37 1 208206672 208206672 + Missense_Mutation SNP C C T TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 1 208206672 208206672 C T SNP PLXNA2 ENST00000367033 human ensembl 74_37 -1 known missense c.5047 p.A1683T 1.000 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,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 PLXNA2 HGNC ENSG00000076356 40 0 0.00 35 4 10.26 POM121 0 genome.wustl.edu 37 7 72414028 72414028 + Missense_Mutation SNP A A G TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 7 72414028 72414028 A G SNP POM121 ENST00000434423 human ensembl 74_37 +1 known missense c.3496 p.S1166G 0.072 NULL NULL - no_errors POM121 HGNC ENSG00000196313 40 0 0.00 56 5 8.20 POSTN 0 genome.wustl.edu 37 13 38154786 38154786 + Nonsense_Mutation SNP T T A TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 13 38154786 38154786 T A SNP POSTN ENST00000379747 human ensembl 74_37 -1 known nonsense c.1441 p.R481* 1.000 pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_FAS1_domain pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_EMI_domain,pfscan_FAS1_domain - no_errors POSTN HGNC ENSG00000133110 tier1 - - 103 0 0.00 128 23 15.13 PPP6R3 0 genome.wustl.edu 37 11 68315547 68315547 + Silent SNP T T C TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 11 68315547 68315547 T C SNP PPP6R3 ENST00000393799 human ensembl 74_37 +1 known silent c.427 p.L143 0.998 pfam_SAPS,superfamily_ARM-type_fold pfam_SAPS,superfamily_ARM-type_fold - no_errors PPP6R3 HGNC ENSG00000110075 tier1 - - 91 0 0.00 88 24 21.43 PRAMEF4 0 genome.wustl.edu 37 1 12943147 12943147 + Silent SNP T T C TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 1 12943147 12943147 T C SNP PRAMEF4 ENST00000235349 human ensembl 74_37 -1 known silent c.69 p.Q23 0.000 NULL NULL - no_errors PRAMEF4 HGNC ENSG00000243073 tier1 - - 208 0 0.00 193 40 17.17 PRDM9 0 genome.wustl.edu 37 5 23527721 23527721 + Missense_Mutation SNP C C T TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 5 23527721 23527721 C T SNP PRDM9 ENST00000296682 human ensembl 74_37 +1 known missense c.2524 p.R842C 0.053 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_SSXRD_motif,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors PRDM9 HGNC ENSG00000164256 tier1 - - 102 0 0.00 102 31 22.96 PRF1 0 genome.wustl.edu 37 10 72357828 72357828 + Missense_Mutation SNP C C A TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 10 72357828 72357828 C A SNP PRF1 ENST00000373209 human ensembl 74_37 -1 known missense c.1649 p.R550L 1.000 NULL pfam_MACPF,pfam_C2_dom,superfamily_C2_dom,smart_MACPF,smart_C2_dom,pfscan_C2_dom - no_errors PRF1 HGNC ENSG00000180644 tier1 - - 58 0 0.00 49 7 12.50 PRKG1 0 genome.wustl.edu 37 10 53814284 53814284 + Missense_Mutation SNP C C A TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 10 53814284 53814284 C A SNP PRKG1 ENST00000373980 human ensembl 74_37 +1 known missense c.803 p.A268E 1.000 pirsf_cGMP-dependent_protein_kinase,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,prints_cAMP/cGMP_kin,pfscan_cNMP-bd_dom pirsf_cGMP-dependent_protein_kinase,pfam_Prot_kinase_dom,pfam_cNMP-bd_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,prints_cGMP_dep_kinase,prints_cAMP/cGMP_kin,pfscan_cNMP-bd_dom,pfscan_Prot_kinase_dom - no_errors PRKG1 HGNC ENSG00000185532 tier1 - - 35 0 0.00 38 12 24.00 PRMT8 0 genome.wustl.edu 37 12 3702948 3702948 + RNA SNP G G A TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 12 3702948 3702948 G A SNP PRMT8 ENST00000261252 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors PRMT8 HGNC ENSG00000111218 tier1 - - 77 0 0.00 78 5 5.95 PROK1 0 genome.wustl.edu 37 1 110996633 110996633 + Silent SNP C C T TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 1 110996633 110996633 C T SNP PROK1 ENST00000271331 human ensembl 74_37 +1 known silent c.123 p.S41 1.000 pfam_Prokineticin_domain pfam_Prokineticin_domain - no_errors PROK1 HGNC ENSG00000143125 tier1 - - 47 0 0.00 38 11 22.45 PSD3 0 genome.wustl.edu 37 8 18729696 18729696 + Silent SNP C C T TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 8 18729696 18729696 C T SNP PSD3 ENST00000440756 human ensembl 74_37 -1 known silent c.678 p.Q226 0.654 NULL pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom - no_errors PSD3 HGNC ENSG00000156011 tier1 - - 92 0 0.00 81 24 22.86 PTCHD2 0 genome.wustl.edu 37 1 11579485 11579485 + Nonsense_Mutation SNP G G T TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 1 11579485 11579485 G T SNP PTCHD2 ENST00000294484 human ensembl 74_37 +1 known nonsense c.1963 p.G655* 0.035 pfam_Patched pfam_Patched,pfam_MMPL_dom,pfscan_SSD - no_errors PTCHD2 HGNC ENSG00000204624 27 0 0.00 34 2 5.56 PTPRD 0 genome.wustl.edu 37 9 8389292 8389292 + Missense_Mutation SNP C C A TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 9 8389292 8389292 C A SNP PTPRD ENST00000356435 human ensembl 74_37 -1 known missense c.4326 p.M1442I 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRD HGNC ENSG00000153707 96 0 0.00 75 4 5.06 QRFPR 0 genome.wustl.edu 37 4 122258023 122258023 + Missense_Mutation SNP C C A TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 4 122258023 122258023 C A SNP QRFPR ENST00000394427 human ensembl 74_37 -1 known missense c.500 p.G167V 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_GPCR_Rhodpsn,prints_NPY_rcpt,prints_NPFF_rcpt - no_errors QRFPR HGNC ENSG00000186867 tier1 - - 62 0 0.00 35 12 25.53 QTRTD1 0 genome.wustl.edu 37 3 113801499 113801499 + RNA SNP G G T TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 3 113801499 113801499 G T SNP QTRTD1 ENST00000462869 human ensembl 74_37 +1 putative rna NULL NULL 0.998 - - - no_errors QTRTD1 HGNC ENSG00000151576 tier1 - - 35 0 0.00 28 8 22.22 RAB2B 0 genome.wustl.edu 37 14 21943014 21943014 + RNA SNP T T C TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 14 21943014 21943014 T C SNP RAB2B ENST00000475857 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors RAB2B HGNC ENSG00000129472 tier1 - - 39 0 0.00 63 4 5.97 RAB3GAP2 0 genome.wustl.edu 37 1 220330778 220330778 + Missense_Mutation SNP G G A TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 1 220330778 220330778 G A SNP RAB3GAP2 ENST00000358951 human ensembl 74_37 -1 known missense c.3389 p.A1130V 0.902 NULL superfamily_WD40_repeat_dom - no_errors RAB3GAP2 HGNC ENSG00000118873 40 0 0.00 44 3 6.38 RFC1 0 genome.wustl.edu 37 4 39310612 39310612 + Frame_Shift_Del DEL T T - TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 4 39310612 39310612 T - DEL RFC1 ENST00000381897 human ensembl 74_37 -1 known frame_shift_del c.1529 p.N510fs 0.089 superfamily_P-loop_NTPase,pirsf_DNA_replication_fac_C_lsu pfam_DNA_replication_fac_RFC1_C,pfam_BRCT_dom,pfam_ATPase_AAA_core,superfamily_DNA_pol3_clamp-load_cplx_C,superfamily_P-loop_NTPase,superfamily_BRCT_dom,smart_BRCT_dom,smart_AAA+_ATPase,pirsf_DNA_replication_fac_C_lsu,pfscan_BRCT_dom - no_errors RFC1 HGNC ENSG00000035928 tier1 34 0 0.00 36 3 7.69 RILPL2 0 genome.wustl.edu 37 12 123907611 123907613 + In_Frame_Del DEL CTC CTC - TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 12 123907611 123907613 CTC 0 DEL RILPL2 ENST00000280571 human ensembl 74_37 -1 known in_frame_del c.585_583 p.E195in_frame_del 1.000:1.000:0.998 NULL pfam_RILP - no_errors RILPL2 HGNC ENSG00000150977 87 0 0.00 76 5 6.17 RSRC1 0 genome.wustl.edu 37 3 158261208 158261208 + Nonsense_Mutation SNP G G T TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 3 158261208 158261208 G T SNP RSRC1 ENST00000295930 human ensembl 74_37 +1 known nonsense c.844 p.E282* 1.000 NULL NULL - no_errors RSRC1 HGNC ENSG00000174891 tier1 - - 54 0 0.00 62 4 6.06 RTN4RL1 0 genome.wustl.edu 37 17 1840006 1840006 + Silent SNP G G A TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 17 1840006 1840006 G A SNP RTN4RL1 ENST00000331238 human ensembl 74_37 -1 known silent c.1110 p.A370 0.011 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors RTN4RL1 HGNC ENSG00000185924 tier1 - - 62 0 0.00 35 46 56.79 SACS 0 genome.wustl.edu 37 13 23908710 23908710 + Nonsense_Mutation SNP A A T TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 13 23908710 23908710 A T SNP SACS ENST00000382292 human ensembl 74_37 -1 known nonsense c.9305 p.L3102* 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 tier1 - - 32 0 0.00 24 13 35.14 SALL1 0 genome.wustl.edu 37 16 51175223 51175223 + Missense_Mutation SNP C C T TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 16 51175223 51175223 C T SNP SALL1 ENST00000251020 human ensembl 74_37 -1 known missense c.910 p.A304T 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL1 HGNC ENSG00000103449 tier1 - - 44 0 0.00 28 13 31.71 SATB2 0 genome.wustl.edu 37 2 200173631 200173631 + Missense_Mutation SNP T T G TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 2 200173631 200173631 T G SNP SATB2 ENST00000260926 human ensembl 74_37 -1 known missense c.1592 p.N531T 1.000 pfam_Hmoeo_CUT,superfamily_Lambda_DNA-bd_dom,pfscan_Hmoeo_CUT 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 44 0 0.00 32 3 8.57 SGCA 0 genome.wustl.edu 37 17 48247597 48247597 + Missense_Mutation SNP G G A TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 17 48247597 48247597 G A SNP SGCA ENST00000262018 human ensembl 74_37 +1 known missense c.841 p.A281T 1.000 pfam_Sarcoglycan_2 pfam_Sarcoglycan_2,superfamily_Cadherin-like,smart_Cadg - no_errors SGCA HGNC ENSG00000108823 54 0 0.00 66 4 5.71 SH3BP5 0 genome.wustl.edu 37 3 15373833 15373835 + In_Frame_Del DEL TCC TCC - TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 TCC TCC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 3 15373833 15373835 TCC - DEL SH3BP5 ENST00000383791 human ensembl 74_37 -1 known in_frame_del c.83_81 p.E29in_frame_del 0.983:0.997:0.997 NULL pfam_SH3-bd_5 - no_errors SH3BP5 HGNC ENSG00000131370 tier1 8 0 0.00 8 4 33.33 SLC23A2 0 genome.wustl.edu 37 20 4850569 4850569 + Frame_Shift_Del DEL G G - TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 20 4850569 4850569 G - DEL SLC23A2 ENST00000338244 human ensembl 74_37 -1 known frame_shift_del c.1233 p.I412fs 0.974 pfam_Xant/urac/vitC pfam_Xant/urac/vitC - no_errors SLC23A2 HGNC ENSG00000089057 tier1 30 0 0.00 26 7 21.21 SLC27A6 0 genome.wustl.edu 37 5 128363000 128363000 + Missense_Mutation SNP G G T TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 5 128363000 128363000 G T SNP SLC27A6 ENST00000262462 human ensembl 74_37 +1 known missense c.1430 p.W477L 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors SLC27A6 HGNC ENSG00000113396 tier1 - - 38 0 0.00 24 16 40.00 SLC44A5 0 genome.wustl.edu 37 1 75680342 75680342 + Missense_Mutation SNP A A C TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 1 75680342 75680342 A C SNP SLC44A5 ENST00000370855 human ensembl 74_37 -1 known missense c.1750 p.F584V 1.000 pfam_Choline_transptr-like pfam_Choline_transptr-like - no_errors SLC44A5 HGNC ENSG00000137968 tier1 - - 29 0 0.00 41 5 10.87 SLC5A8 0 genome.wustl.edu 37 12 101598288 101598288 + Missense_Mutation SNP A A G TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 12 101598288 101598288 A G SNP SLC5A8 ENST00000536262 human ensembl 74_37 -1 known missense c.407 p.I136T 0.999 pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A8 HGNC ENSG00000256870 tier1 - - 86 0 0.00 67 18 21.18 SLC9A6 0 genome.wustl.edu 37 X 135126632 135126632 + Missense_Mutation SNP G G T TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac X 135126632 135126632 G T SNP SLC9A6 ENST00000370695 human ensembl 74_37 +1 known missense c.1855 p.D619Y 1.000 prints_Na/H_exchanger_6 pfam_Cation/H_exchanger,prints_Na/H_exchanger_6,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A6 HGNC ENSG00000198689 tier1 - - 48 0 0.00 58 4 6.45 SLITRK1 0 genome.wustl.edu 37 13 84454326 84454326 + Silent SNP G G A TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 13 84454326 84454326 G A SNP SLITRK1 ENST00000377084 human ensembl 74_37 -1 known silent c.1317 p.S439 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK1 HGNC ENSG00000178235 tier1 - - 48 0 0.00 39 8 17.02 SMARCA2 0 genome.wustl.edu 37 9 2115910 2115910 + Frame_Shift_Del DEL A A - TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 9 2115910 2115910 A - DEL SMARCA2 ENST00000349721 human ensembl 74_37 +1 known frame_shift_del c.3545 p.K1183fs 1.000 superfamily_P-loop_NTPase,pfscan_Helicase_C pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_P-loop_NTPase,superfamily_Bromodomain,superfamily_RNaseH-like_dom,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain - no_errors SMARCA2 HGNC ENSG00000080503 tier1 48 0 0.00 35 2 5.41 SOS2 0 genome.wustl.edu 37 14 50623682 50623683 + RNA DEL TA TA - TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 TA TA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 14 50623682 50623683 TA - DEL SOS2 ENST00000555794 human ensembl 74_37 -1 known rna NULL NULL 0.006:0.004 - - - no_errors SOS2 HGNC ENSG00000100485 tier1 71 0 0.00 70 5 6.67 SP8 0 genome.wustl.edu 37 7 20824506 20824506 + Silent SNP C C T TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 7 20824506 20824506 C T SNP SP8 ENST00000418710 human ensembl 74_37 -1 known silent c.930 p.P310 0.992 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2,prints_Antifreeze_1 - no_errors SP8 HGNC ENSG00000164651 8 0 0.00 3 6 66.67 SPAG16 0 genome.wustl.edu 37 2 214354802 214354802 + Missense_Mutation SNP T T C TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 2 214354802 214354802 T C SNP SPAG16 ENST00000331683 human ensembl 74_37 +1 known missense c.1058 p.L353P 1.000 pfam_WD40_repeat,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,prints_G-protein_beta_WD-40_rep - no_errors SPAG16 HGNC ENSG00000144451 tier1 - - 53 0 0.00 26 8 23.53 SPTA1 0 genome.wustl.edu 37 1 158592923 158592923 + Silent SNP G G A TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 1 158592923 158592923 G A SNP SPTA1 ENST00000368147 human ensembl 74_37 -1 known silent c.5970 p.D1990 0.839 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SPTA1 HGNC ENSG00000163554 tier1 - - 30 0 0.00 34 16 32.00 SRRT 0 genome.wustl.edu 37 7 100482040 100482042 + In_Frame_Del DEL AGG AGG - TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 AGG AGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 7 100482040 100482042 AGG - DEL SRRT ENST00000388793 human ensembl 74_37 +1 known in_frame_del c.809_811 p.E274in_frame_del 1.000:0.996:1.000 NULL pfam_Arsenite-R_2,pfam_DUF3546 - no_errors SRRT HGNC ENSG00000087087 tier1 31 0 0.00 31 6 16.22 SSH2 0 genome.wustl.edu 37 17 27975312 27975312 + Missense_Mutation SNP G G A TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 17 27975312 27975312 G A SNP SSH2 ENST00000269033 human ensembl 74_37 -1 known missense c.1196 p.S399L 1.000 pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors SSH2 HGNC ENSG00000141298 tier1 - - 92 0 0.00 108 16 12.90 STAB2 0 genome.wustl.edu 37 12 104031922 104031922 + Missense_Mutation SNP C C T TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 12 104031922 104031922 C T SNP STAB2 ENST00000388887 human ensembl 74_37 +1 known missense c.838 p.P280S 1.000 NULL pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_FAS1_domain,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB2 HGNC ENSG00000136011 49 0 0.00 68 4 5.56 STT3A 0 genome.wustl.edu 37 11 125489995 125489995 + Nonsense_Mutation SNP G G T TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 11 125489995 125489995 G T SNP STT3A ENST00000392708 human ensembl 74_37 +1 known nonsense c.2053 p.E685* 1.000 NULL pfam_Oligo_trans_STT3 - no_errors STT3A HGNC ENSG00000134910 63 0 0.00 74 5 6.33 STXBP5 0 genome.wustl.edu 37 6 147704078 147704078 + Missense_Mutation SNP G G C TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 6 147704078 147704078 G C SNP STXBP5 ENST00000321680 human ensembl 74_37 +1 known missense c.3358 p.E1120Q 1.000 pfscan_Synaptobrevin 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 - - 48 0 0.00 61 33 35.11 STXBP5 0 genome.wustl.edu 37 6 147704132 147704132 + Missense_Mutation SNP G G A TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 6 147704132 147704132 G A SNP STXBP5 ENST00000321680 human ensembl 74_37 +1 known missense c.3412 p.E1138K 1.000 pfscan_Synaptobrevin 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 - - 46 0 0.00 39 25 39.06 TAF3 0 genome.wustl.edu 37 10 8006704 8006704 + Missense_Mutation SNP T T C TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 10 8006704 8006704 T C SNP TAF3 ENST00000344293 human ensembl 74_37 +1 known missense c.1231 p.S411P 1.000 NULL pfam_BTP,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_Histone-fold,smart_BTP,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors TAF3 HGNC ENSG00000165632 tier1 - - 24 0 0.00 31 16 33.33 TCN2 0 genome.wustl.edu 37 22 31013382 31013382 + Missense_Mutation SNP G G T TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 22 31013382 31013382 G T SNP TCN2 ENST00000215838 human ensembl 74_37 +1 known missense c.1006 p.V336L 0.770 NULL pfam_Cbl-bd_transpt_euk,superfamily_Terpenoid_cyclase/PrenylTrfase - no_errors TCN2 HGNC ENSG00000185339 63 0 0.00 75 4 5.06 TCTE1 0 genome.wustl.edu 37 6 44255379 44255379 + Missense_Mutation SNP G G A TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 6 44255379 44255379 G A SNP TCTE1 ENST00000371505 human ensembl 74_37 -1 known missense c.184 p.R62C 1.000 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors TCTE1 HGNC ENSG00000146221 46 0 0.00 47 3 6.00 TDRD3 0 genome.wustl.edu 37 13 61102581 61102581 + Missense_Mutation SNP A A C TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 13 61102581 61102581 A C SNP TDRD3 ENST00000535286 human ensembl 74_37 +1 known missense c.1222 p.N408H 0.925 NULL pfam_DUF1767,pfam_Tudor,pfam_Survival_motor_neuron,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,smart_Tudor,pfscan_Tudor,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors TDRD3 HGNC ENSG00000083544 48 0 0.00 57 8 12.31 TEAD1 0 genome.wustl.edu 37 11 12904607 12904607 + Missense_Mutation SNP G G A TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 11 12904607 12904607 G A SNP TEAD1 ENST00000361905 human ensembl 74_37 +1 known missense c.589 p.G197S 1.000 pfam_TEA/ATTS,pirsf_TEF pfam_TEA/ATTS,smart_TEA/ATTS,pirsf_TEF,pfscan_TEA/ATTS,prints_TEA/ATTS - no_errors TEAD1 HGNC ENSG00000187079 tier1 - - 54 0 0.00 59 19 24.36 TEK 0 genome.wustl.edu 37 9 27169601 27169601 + Nonsense_Mutation SNP C C A TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 9 27169601 27169601 C A SNP TEK ENST00000380036 human ensembl 74_37 +1 known nonsense c.602 p.S201* 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Tyr_kin_Tie2_Ig-like_dom-1_N,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TEK HGNC ENSG00000120156 tier1 - - 55 0 0.00 46 8 14.81 TFAP2B 0 genome.wustl.edu 37 6 50807971 50807971 + Missense_Mutation SNP G G T TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 6 50807971 50807971 G T SNP TFAP2B ENST00000263046 human ensembl 74_37 +1 known missense c.1070 p.S357I 1.000 pfam_TF_AP2_C pfam_TF_AP2_C,prints_TF_AP2_beta,prints_TF_AP2_C - no_errors TFAP2B HGNC ENSG00000008196 tier1 - - 29 0 0.00 38 4 9.52 TLL1 0 genome.wustl.edu 37 4 166981258 166981258 + Missense_Mutation SNP A A G TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 4 166981258 166981258 A G SNP TLL1 ENST00000061240 human ensembl 74_37 +1 known missense c.1925 p.K642R 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pirsf_BMP_1/tolloid-like,pfscan_CUB_dom 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 tier1 - - 50 0 0.00 42 13 23.64 TMEM115 0 genome.wustl.edu 37 3 50396409 50396409 + Missense_Mutation SNP G G T TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 3 50396409 50396409 G T SNP TMEM115 ENST00000266025 human ensembl 74_37 -1 known missense c.86 p.A29E 0.026 NULL pfam_DUF1751_Mem_euk - no_errors TMEM115 HGNC ENSG00000126062 tier1 - - 64 0 0.00 52 4 7.14 TMEM254 0 genome.wustl.edu 37 10 81841429 81841432 + RNA DEL AAAG AAAG - TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 AAAG AAAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 10 81841429 81841432 AAAG - DEL TMEM254 ENST00000463029 human ensembl 74_37 +1 known rna NULL NULL 0.019:0.020:0.019:0.021 - - - no_errors TMEM254 HGNC ENSG00000133678 tier1 11 0 0.00 25 13 34.21 TOR1A 0 genome.wustl.edu 37 9 132576441 132576441 + Missense_Mutation SNP A A G TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 9 132576441 132576441 A G SNP TOR1A ENST00000351698 human ensembl 74_37 -1 known missense c.809 p.L270P 1.000 superfamily_P-loop_NTPase,pirsf_Torsin_subgr pfam_Torsin,superfamily_P-loop_NTPase,pirsf_Torsin_subgr - no_errors TOR1A HGNC ENSG00000136827 47 0 0.00 60 4 6.25 TPM3 0 genome.wustl.edu 37 1 154144891 154144892 + RNA INS - - T TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 1 154144891 154144892 - T INS TPM3 ENST00000469717 human ensembl 74_37 -1 known rna NULL NULL 0.013:0.015 - - - no_errors TPM3 HGNC ENSG00000143549 tier1 20 0 0.00 29 4 12.12 TPTE 0 genome.wustl.edu 37 21 10907027 10907027 + Missense_Mutation SNP T T C TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 21 10907027 10907027 T C SNP TPTE ENST00000361285 human ensembl 74_37 -1 known missense c.1534 p.K512E 0.955 pfam_Tensin_phosphatase_C2-dom,superfamily_C2_dom,pfscan_Tensin_phosphatase_C2-dom pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Ion_trans_dom,superfamily_C2_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TPTE HGNC ENSG00000166157 tier1 - - 230 0 0.00 224 27 10.76 TRIM77 0 genome.wustl.edu 37 11 89443868 89443868 + Silent SNP A A G TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 11 89443868 89443868 A G SNP TRIM77 ENST00000398290 human ensembl 74_37 +1 known silent c.402 p.E134 0.027 NULL pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM77 HGNC ENSG00000214414 tier1 - - 64 0 0.00 123 9 6.82 TRPA1 0 genome.wustl.edu 37 8 72964956 72964956 + Silent SNP G G A TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 8 72964956 72964956 G A SNP TRPA1 ENST00000262209 human ensembl 74_37 -1 known silent c.1689 p.A563 0.008 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors TRPA1 HGNC ENSG00000104321 tier1 - - 47 0 0.00 41 19 31.67 TSC2 0 genome.wustl.edu 37 16 2121821 2121821 + Silent SNP C C T TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 16 2121821 2121821 C T SNP TSC2 ENST00000219476 human ensembl 74_37 +1 known silent c.1983 p.G661 0.001 pfam_Tuberin-type_domain pfam_Tuberin-type_domain,pfam_Tuberin_N,pfam_Rap_GAP_dom,superfamily_ARM-type_fold,pfscan_Rap_GAP_dom,prints_Tuberin - no_errors TSC2 HGNC ENSG00000103197 10 0 0.00 15 2 11.76 TTC21A 0 genome.wustl.edu 37 3 39170763 39170763 + Missense_Mutation SNP G G T TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 3 39170763 39170763 G T SNP TTC21A ENST00000301819 human ensembl 74_37 +1 known missense c.2121 p.Q707H 0.455 NULL pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC21A HGNC ENSG00000168026 tier1 - - 46 0 0.00 39 4 9.30 TTK 0 genome.wustl.edu 37 6 80745072 80745072 + Missense_Mutation SNP C C A TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 6 80745072 80745072 C A SNP TTK ENST00000369798 human ensembl 74_37 +1 known missense c.1862 p.P621Q 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 TTK HGNC ENSG00000112742 tier1 - - 79 0 0.00 88 11 11.11 TTN 0 genome.wustl.edu 37 2 179469601 179469601 + Missense_Mutation SNP A A C TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 2 179469601 179469601 A C SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.46511 p.L15504R 1.000 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 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 - - 49 0 0.00 39 6 13.33 TTN 0 genome.wustl.edu 37 2 179594880 179594880 + Missense_Mutation SNP T T A TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 2 179594880 179594880 T A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.14515 p.I4839F 1.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 34 0 0.00 41 6 12.77 UBA7 0 genome.wustl.edu 37 3 49842835 49842835 + Missense_Mutation SNP G G T TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 3 49842835 49842835 G T SNP UBA7 ENST00000333486 human ensembl 74_37 -1 known missense c.2945 p.A982E 0.000 pfam_Ub-activating_enz_e1_C,tigrfam_UBQ-activ_enz_E1 pfam_ThiF_NAD_FAD-bd,pfam_UBact_repeat,pfam_Ub-activating_enz_e1_C,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like,tigrfam_UBQ-activ_enz_E1 - no_errors UBA7 HGNC ENSG00000182179 tier1 - - 29 0 0.00 28 4 12.50 UBE4B 0 genome.wustl.edu 37 1 10211432 10211432 + Missense_Mutation SNP G G T TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 1 10211432 10211432 G T SNP UBE4B ENST00000343090 human ensembl 74_37 +1 known missense c.2739 p.M913I 1.000 pfam_Ub_conjug_fac_E4_core pfam_Ub_conjug_fac_E4_core,pfam_Ubox_domain,smart_Ubox_domain - no_errors UBE4B HGNC ENSG00000130939 tier1 - - 26 0 0.00 15 11 42.31 UBXN1 0 genome.wustl.edu 37 11 62444043 62444043 + Silent SNP G G A TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 11 62444043 62444043 G A SNP UBXN1 ENST00000533000 human ensembl 74_37 -1 putative silent c.294 p.V98 0.000 NULL NULL - no_errors UBXN1 HGNC ENSG00000162191 tier1 - - 80 0 0.00 63 24 27.59 UCP2 0 genome.wustl.edu 37 11 73686625 73686625 + Nonsense_Mutation SNP G G T TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 11 73686625 73686625 G T SNP UCP2 ENST00000310473 human ensembl 74_37 -1 known nonsense c.726 p.Y242* 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_uncoupling - no_errors UCP2 HGNC ENSG00000175567 tier1 - - 46 0 0.00 38 14 26.92 UNC45B 0 genome.wustl.edu 37 17 33513524 33513524 + Silent SNP C C T TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 17 33513524 33513524 C T SNP UNC45B ENST00000268876 human ensembl 74_37 +1 known silent c.2742 p.A914 0.982 NULL pfam_UNC-45/Ring3,superfamily_ARM-type_fold,smart_TPR_repeat,smart_Armadillo,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors UNC45B HGNC ENSG00000141161 86 0 0.00 71 4 5.33 USH2A 0 genome.wustl.edu 37 1 216040378 216040378 + Missense_Mutation SNP G G A TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 1 216040378 216040378 G A SNP USH2A ENST00000366943 human ensembl 74_37 -1 known missense c.8816 p.T2939I 0.992 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 tier1 - - 35 0 0.00 63 12 15.79 USP47 0 genome.wustl.edu 37 11 11978306 11978306 + RNA SNP G G T TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 11 11978306 11978306 G T SNP USP47 ENST00000305481 human ensembl 74_37 +1 known rna NULL NULL 0.950 - - - no_errors USP47 HGNC ENSG00000170242 tier1 - - 26 0 0.00 42 4 8.70 USP9X 0 genome.wustl.edu 37 X 41057806 41057806 + Missense_Mutation SNP C C T TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac X 41057806 41057806 C T SNP USP9X ENST00000324545 human ensembl 74_37 +1 known missense c.4406 p.P1469L 1.000 NULL pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67 - no_errors USP9X HGNC ENSG00000124486 tier1 - - 56 0 0.00 34 27 44.26 UTP14A 0 genome.wustl.edu 37 X 129047355 129047356 + Frame_Shift_Ins INS - - A TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac X 129047355 129047356 0 A INS UTP14A ENST00000371042 human ensembl 74_37 +1 known frame_shift_ins c.17_18 p.K10fs 0.814:0.011 pfam_SSU_processome_Utp14 pfam_SSU_processome_Utp14 - no_errors UTP14A HGNC ENSG00000156697 71 0 0.00 56 7 11.11 VCAM1 0 genome.wustl.edu 37 1 101190445 101190445 + Missense_Mutation SNP A A C TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 1 101190445 101190445 A C SNP VCAM1 ENST00000294728 human ensembl 74_37 +1 known missense c.927 p.Q309H 1.000 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_C2-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom,prints_VCAM-1,prints_ICAM_VCAM_N - no_errors VCAM1 HGNC ENSG00000162692 tier1 - - 26 0 0.00 36 4 10.00 VDR 0 genome.wustl.edu 37 12 48240573 48240573 + Missense_Mutation SNP G G T TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 12 48240573 48240573 G T SNP VDR ENST00000229022 human ensembl 74_37 -1 known missense c.774 p.D258E 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_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_VitD_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors VDR HGNC ENSG00000111424 36 0 0.00 35 2 5.41 VPS13B 0 genome.wustl.edu 37 8 100865821 100865821 + Missense_Mutation SNP G G T TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 8 100865821 100865821 G T SNP VPS13B ENST00000358544 human ensembl 74_37 +1 known missense c.10279 p.A3427S 0.007 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC ENSG00000132549 tier1 - - 44 0 0.00 47 9 16.07 VPS36 0 genome.wustl.edu 37 13 53000037 53000038 + RNA INS - - A TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 13 53000037 53000038 - A INS VPS36 ENST00000492650 human ensembl 74_37 -1 known rna NULL NULL 0.009:0.000 - - - no_errors VPS36 HGNC ENSG00000136100 tier1 52 0 0.00 59 5 7.81 VPS9D1 0 genome.wustl.edu 37 16 89777219 89777219 + Missense_Mutation SNP G G A TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 16 89777219 89777219 G A SNP VPS9D1 ENST00000389386 human ensembl 74_37 -1 known missense c.1033 p.R345W 0.000 NULL pfam_VPS9,smart_VPS9_subgr,pfscan_VPS9 - no_errors VPS9D1 HGNC ENSG00000075399 tier1 - - 23 0 0.00 36 34 48.57 WASF3 0 genome.wustl.edu 37 13 27256996 27256996 + Silent SNP T T G TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 13 27256996 27256996 T G SNP WASF3 ENST00000335327 human ensembl 74_37 +1 known silent c.1236 p.S412 0.924 NULL pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors WASF3 HGNC ENSG00000132970 tier1 - - 90 0 0.00 59 34 36.56 ZBTB18 0 genome.wustl.edu 37 1 244217095 244217095 + Missense_Mutation SNP G G A TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 1 244217095 244217095 G A SNP ZBTB18 ENST00000358704 human ensembl 74_37 +1 known missense c.19 p.E7K 1.000 superfamily_BTB/POZ_fold pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB18 HGNC ENSG00000179456 tier1 - - 106 0 0.00 72 19 20.88 ZFR 0 genome.wustl.edu 37 5 32407029 32407029 + Silent SNP A A T TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 5 32407029 32407029 A T SNP ZFR ENST00000265069 human ensembl 74_37 -1 known silent c.882 p.A294 0.601 NULL pfam_DZF,pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like,smart_DZF - no_errors ZFR HGNC ENSG00000056097 37 0 0.00 47 3 6.00 ZIC3 0 genome.wustl.edu 37 X 136648985 136648987 + In_Frame_Del DEL CGC CGC - TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 CGC CGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac X 136648985 136648987 CGC - DEL ZIC3 ENST00000287538 human ensembl 74_37 +1 known in_frame_del c.135_137 p.A49in_frame_del 1.000:1.000:1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZIC3 HGNC ENSG00000156925 tier1 15 0 0.00 11 2 15.38 ZNF345 0 genome.wustl.edu 37 19 37368648 37368648 + Missense_Mutation SNP A A G TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 19 37368648 37368648 A G SNP ZNF345 ENST00000420450 human ensembl 74_37 +1 known missense c.916 p.R306G 0.989 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF345 HGNC ENSG00000251247 tier1 - - 61 0 0.00 45 17 27.42 ZNF664 0 genome.wustl.edu 37 12 124497178 124497178 + Silent SNP A A C TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 12 124497178 124497178 A C SNP ZNF664 ENST00000337815 human ensembl 74_37 +1 known silent c.487 p.R163 0.945 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF664 HGNC ENSG00000179195 tier1 - - 83 0 0.00 57 13 18.57 ZNF726 0 genome.wustl.edu 37 19 24118224 24118224 + Missense_Mutation SNP T T G TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 19 24118224 24118224 T G SNP ZNF726 ENST00000322487 human ensembl 74_37 +1 known missense c.2165 p.L722R 0.007 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF726 HGNC ENSG00000213967 tier1 - - 83 0 0.00 61 19 23.75 ZNF800 0 genome.wustl.edu 37 7 127026124 127026124 + Nonsense_Mutation SNP G G T TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 7 127026124 127026124 G T SNP ZNF800 ENST00000265827 human ensembl 74_37 -1 known nonsense c.147 p.C49* 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF800 HGNC ENSG00000048405 75 0 0.00 62 7 10.14 ZNF823 0 genome.wustl.edu 37 19 11833536 11833536 + Silent SNP G G A TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 19 11833536 11833536 G A SNP ZNF823 ENST00000341191 human ensembl 74_37 -1 known silent c.813 p.T271 0.972 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 ZNF823 HGNC ENSG00000197933 tier1 - - 98 0 0.00 93 18 16.22 ZNF860 0 genome.wustl.edu 37 3 32032151 32032151 + Missense_Mutation SNP G G A TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0847e32a-4c16-47a8-8117-d7f37a42c69e 98ee0b56-8d1d-489e-8c16-b55cd08b04ac 3 32032151 32032151 G A SNP ZNF860 ENST00000360311 human ensembl 74_37 +1 known missense c.1580 p.R527H 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 ZNF860 HGNC ENSG00000197385 tier1 - - 94 0 0.00 53 43 44.79