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 A1CF 29974 genome.wustl.edu 37 10 52601652 52601652 + Missense_Mutation SNP G G C TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 10 52601652 52601652 G C SNP A1CF ENST00000282641 human ensembl 70_37 -1 known missense c.335 p.A112G 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac - no_errors A1CF HGNC ACTC1 70 genome.wustl.edu 37 15 35086922 35086922 + Missense_Mutation SNP G G A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 15 35086922 35086922 G A SNP ACTC1 ENST00000290378 human ensembl 70_37 -1 known missense c.88 p.R30C 0.997 pfam_Actin-like,smart_Actin-like,prints_Actin-like pfam_Actin-like,smart_Actin-like,prints_Actin-like - no_errors ACTC1 HGNC ADAMTS5 11096 genome.wustl.edu 37 21 28338227 28338227 + Missense_Mutation SNP G G A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 21 28338227 28338227 G A SNP ADAMTS5 ENST00000284987 human ensembl 70_37 -1 known missense c.484 p.R162C 1.000 pfam_Peptidase_M12B_N,prints_Pept_M12B_ADAM-TS5 pfam_ADAM_spacer1,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS5,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS5 HGNC ADCY1 107 genome.wustl.edu 37 7 45697411 45697411 + Missense_Mutation SNP C C T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 7 45697411 45697411 C T SNP ADCY1 ENST00000297323 human ensembl 70_37 +1 known missense c.1234 p.R412C 1.000 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY1 HGNC ADCY10 55811 genome.wustl.edu 37 1 167778974 167778974 + Missense_Mutation SNP G G C TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 1 167778974 167778974 G C SNP ADCY10 ENST00000367851 human ensembl 70_37 -1 known missense c.4774 p.Q1592E 0.000 pirsf_Adenylate_cylcase_typ10 pfam_A/G_cyclase,superfamily_A/G_cyclase,pirsf_Adenylate_cylcase_typ10,pfscan_A/G_cyclase - no_errors ADCY10 HGNC AKIP1 56672 genome.wustl.edu 37 11 8934001 8934001 + Missense_Mutation SNP G G C TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 11 8934001 8934001 G C SNP AKIP1 ENST00000309377 human ensembl 70_37 +1 known missense c.224 p.R75T 1.000 NULL NULL - no_errors AKIP1 HGNC ALOX12P2 245 genome.wustl.edu 37 17 6797690 6797690 + RNA SNP G G T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 17 6797690 6797690 G T SNP ALOX12P2 ENST00000570835 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors ALOX12P2 HGNC ANKRD13D 338692 genome.wustl.edu 37 11 67059210 67059210 + Missense_Mutation SNP G G C TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 11 67059210 67059210 G C SNP ANKRD13D ENST00000511455 human ensembl 70_37 +1 known missense c.534 p.K178N 1.000 pfam_ANKRD13 pfam_ANKRD13,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ubiquitin-int_motif,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Ubiquitin-int_motif - no_errors ANKRD13D HGNC APOBEC3B 9582 genome.wustl.edu 37 22 39385582 39385582 + Silent SNP G G C TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 22 39385582 39385582 G C SNP APOBEC3B ENST00000333467 human ensembl 70_37 +1 known silent c.690 p.L230 0.000 pfam_APOBEC_N pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like - no_errors APOBEC3B HGNC ARHGAP11A 9824 genome.wustl.edu 37 15 32928987 32928987 + Missense_Mutation SNP G G C TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 15 32928987 32928987 G C SNP ARHGAP11A ENST00000361627 human ensembl 70_37 +1 known missense c.2013 p.E671D 0.161 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP11A HGNC ARMC9 80210 genome.wustl.edu 37 2 232100031 232100031 + Silent SNP C C T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 2 232100031 232100031 C T SNP ARMC9 ENST00000349938 human ensembl 70_37 +1 known silent c.717 p.H239 1.000 NULL superfamily_ARM-type_fold,smart_LisH_dimerisation,pfscan_LisH_dimerisation - no_errors ARMC9 HGNC ASTN1 460 genome.wustl.edu 37 1 176934347 176934347 + Missense_Mutation SNP C C T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 1 176934347 176934347 C T SNP ASTN1 ENST00000367654 human ensembl 70_37 -1 known missense c.1574 p.R525Q 1.000 NULL superfamily_Fibronectin_type3,smart_EG-like_dom,smart_MACPF,pfscan_Fibronectin_type3 - no_errors ASTN1 HGNC ASUN 55726 genome.wustl.edu 37 12 27068991 27068991 + Missense_Mutation SNP C C G TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 12 27068991 27068991 C G SNP ASUN ENST00000261191 human ensembl 70_37 -1 known missense c.1192 p.D398H 1.000 pfam_Cell_cycle_regulator_Mat89Bb pfam_Cell_cycle_regulator_Mat89Bb - no_errors ASUN HGNC BAI3 577 genome.wustl.edu 37 6 70070940 70070940 + Missense_Mutation SNP C C A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 6 70070940 70070940 C A SNP BAI3 ENST00000370598 human ensembl 70_37 +1 known missense c.3775 p.P1259T 1.000 NULL pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like - no_errors BAI3 HGNC BTK 695 genome.wustl.edu 37 X 100608249 100608249 + Missense_Mutation SNP A A T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd X 100608249 100608249 A T SNP BTK ENST00000308731 human ensembl 70_37 -1 known missense c.1841 p.L614Q 0.842 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_Znf_Btk_motif,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_Znf_Btk_motif,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Znf_Btk_motif,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,prints_SH2,prints_Znf_Btk_motif - no_errors BTK HGNC C10orf10 11067 genome.wustl.edu 37 10 45473403 45473403 + Missense_Mutation SNP C C T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 10 45473403 45473403 C T SNP C10orf10 ENST00000298295 human ensembl 70_37 -1 known missense c.76 p.G26S 0.000 NULL NULL - no_errors C10orf10 HGNC C20orf62 140834 genome.wustl.edu 37 20 43090637 43090637 + Missense_Mutation SNP C C T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 20 43090637 43090637 C T SNP C20orf62 ENST00000372910 human ensembl 70_37 -1 putative missense c.401 p.R134H 0.000 NULL NULL - no_errors C20orf62 HGNC C21orf49 54067 genome.wustl.edu 37 21 34160945 34160945 + Missense_Mutation SNP C C T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 21 34160945 34160945 C T SNP C21orf49 ENST00000382375 human ensembl 70_37 +1 known missense c.65 p.S22L 0.002 NULL NULL - no_errors C21orf49 HGNC CACNA1S 779 genome.wustl.edu 37 1 201061236 201061236 + Silent SNP G G A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 1 201061236 201061236 G A SNP CACNA1S ENST00000362061 human ensembl 70_37 -1 known silent c.405 p.F135 1.000 pfam_Ion_trans_dom,prints_VDCC_L_a1su pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_VDCC_L_a1ssu - no_errors CACNA1S HGNC CADM4 199731 genome.wustl.edu 37 19 44131041 44131041 + Missense_Mutation SNP G G A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 19 44131041 44131041 G A SNP CADM4 ENST00000222374 human ensembl 70_37 -1 known missense c.394 p.R132W 1.000 pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,pfam_Ig_V-set,pfam_CD80_C2-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Neurexin-like,pfscan_Ig-like - no_errors CADM4 HGNC CAMKK2 10645 genome.wustl.edu 37 12 121693424 121693424 + Missense_Mutation SNP G G T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 12 121693424 121693424 G T SNP CAMKK2 ENST00000324774 human ensembl 70_37 -1 known missense c.836 p.P279H 1.000 pfam_Prot_kinase_cat_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_cat_dom pfam_Prot_kinase_cat_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_cat_dom - no_errors CAMKK2 HGNC CAMSAP2 23271 genome.wustl.edu 37 1 200817339 200817339 + Missense_Mutation SNP A A T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 1 200817339 200817339 A T SNP CAMSAP2 ENST00000236925 human ensembl 70_37 +1 known missense c.1475 p.E492V 1.000 NULL pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrell-like,superfamily_CH-domain - no_errors CAMSAP2 HGNC CCDC18 343099 genome.wustl.edu 37 1 93646208 93646208 + Missense_Mutation SNP C C T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 1 93646208 93646208 C T SNP CCDC18 ENST00000557479 human ensembl 70_37 +1 known missense c.121 p.R41W 0.000 NULL superfamily_Prefoldin,superfamily_tRNA-bd_arm - no_errors CCDC18 HGNC CCNYL2 414194 genome.wustl.edu 37 10 42950057 42950057 + RNA SNP C C T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 10 42950057 42950057 C T SNP CCNYL2 ENST00000472090 human ensembl 70_37 -1 known rna NULL NULL 0.937 - - - no_errors CCNYL2 HGNC CEACAM1 634 genome.wustl.edu 37 19 43031407 43031407 + Silent SNP C C G TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 19 43031407 43031407 C G SNP CEACAM1 ENST00000161559 human ensembl 70_37 -1 known silent c.210 p.G70 0.004 pfam_Ig_V-set,smart_Ig_sub pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors CEACAM1 HGNC CHRFAM7A 89832 genome.wustl.edu 37 15 30665323 30665323 + Silent SNP G G A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 15 30665323 30665323 G A SNP CHRFAM7A ENST00000299847 human ensembl 70_37 -1 known silent c.186 p.I62 0.864 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel - no_errors CHRFAM7A HGNC CHRM3 1131 genome.wustl.edu 37 1 240071991 240071991 + Missense_Mutation SNP G G A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 1 240071991 240071991 G A SNP CHRM3 ENST00000255380 human ensembl 70_37 +1 known missense c.1240 p.V414M 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_M3_rcpt,prints_Musac_rcpt,prints_GPCR_Rhodpsn - no_errors CHRM3 HGNC CIC 23152 genome.wustl.edu 37 19 42796784 42796784 + Missense_Mutation SNP C C T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 19 42796784 42796784 C T SNP CIC ENST00000160740 human ensembl 70_37 +1 known missense c.3242 p.P1081L 1.000 NULL pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors CIC HGNC CLCC1 23155 genome.wustl.edu 37 1 109472616 109472616 + RNA SNP A A G TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 1 109472616 109472616 A G SNP CLCC1 ENST00000473062 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors CLCC1 HGNC CLSPN 63967 genome.wustl.edu 37 1 36230312 36230312 + Nonsense_Mutation SNP G G C TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 1 36230312 36230312 G C SNP CLSPN ENST00000318121 human ensembl 70_37 -1 known nonsense c.137 p.S46* 1.000 NULL NULL - no_errors CLSPN HGNC CNTNAP3B 728577 genome.wustl.edu 37 9 43875988 43875988 + Splice_Site SNP G G C TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 9 43875988 43875988 G C SNP CNTNAP3B ENST00000377564 human ensembl 70_37 +1 known splice_site c.2081-1 e14-1 1.000 - - - no_errors CNTNAP3B HGNC COL11A1 1301 genome.wustl.edu 37 1 103364276 103364276 + Silent SNP C C T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 1 103364276 103364276 C T SNP COL11A1 ENST00000358392 human ensembl 70_37 -1 known silent c.4230 p.Q1410 0.999 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL11A1 HGNC COL14A1 7373 genome.wustl.edu 37 8 121262997 121262997 + Missense_Mutation SNP T T C TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 8 121262997 121262997 T C SNP COL14A1 ENST00000297848 human ensembl 70_37 +1 known missense c.2744 p.V915A 1.000 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_VWF_A,pfam_Fibronectin_type3,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL14A1 HGNC COL1A2 1278 genome.wustl.edu 37 7 94037505 94037505 + Missense_Mutation SNP G G A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 7 94037505 94037505 G A SNP COL1A2 ENST00000297268 human ensembl 70_37 +1 known missense c.650 p.G217E 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,superfamily_Fibrinogen_a/b/g_C,smart_Fib_collagen_C - no_errors COL1A2 HGNC CPXM1 56265 genome.wustl.edu 37 20 2777278 2777278 + Nonsense_Mutation SNP C C A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 20 2777278 2777278 C A SNP CPXM1 ENST00000380605 human ensembl 70_37 -1 known nonsense c.940 p.E314* 0.997 pfam_Peptidase_M14 pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom,prints_Peptidase_M14 - no_errors CPXM1 HGNC CYP11B1 1584 genome.wustl.edu 37 8 143957227 143957227 + Missense_Mutation SNP C C T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 8 143957227 143957227 C T SNP CYP11B1 ENST00000292427 human ensembl 70_37 -1 known missense c.1022 p.R341H 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_mitochondrial,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B,prints_Cyt_P450 - no_errors CYP11B1 HGNC CYP2B7P1 1556 genome.wustl.edu 37 19 41455326 41455326 + RNA SNP A A G TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 19 41455326 41455326 A G SNP CYP2B7P1 ENST00000599198 human ensembl 70_37 +1 known rna NULL NULL 0.010 - - - no_errors CYP2B7P1 HGNC DBN1 1627 genome.wustl.edu 37 5 176887655 176887655 + Missense_Mutation SNP G G C TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 5 176887655 176887655 G C SNP DBN1 ENST00000292385 human ensembl 70_37 -1 known missense c.827 p.S276W 0.751 NULL pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin - no_errors DBN1 HGNC DCAF12L2 340578 genome.wustl.edu 37 X 125298663 125298663 + Silent SNP G G A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd X 125298663 125298663 G A SNP DCAF12L2 ENST00000360028 human ensembl 70_37 -1 known silent c.1245 p.D415 0.163 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF12L2 HGNC DDX49 54555 genome.wustl.edu 37 19 19035769 19035769 + Missense_Mutation SNP C C T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 19 19035769 19035769 C T SNP DDX49 ENST00000438170 human ensembl 70_37 +1 known missense c.716 p.S239L 0.002 smart_Helicase_C,pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX49 HGNC DDX60 55601 genome.wustl.edu 37 4 169167643 169167643 + Missense_Mutation SNP G G A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 4 169167643 169167643 G A SNP DDX60 ENST00000393743 human ensembl 70_37 -1 known missense c.4090 p.L1364F 0.001 pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX60 HGNC DENND2D 79961 genome.wustl.edu 37 1 111731372 111731372 + Missense_Mutation SNP G G C TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 1 111731372 111731372 G C SNP DENND2D ENST00000357640 human ensembl 70_37 -1 known missense c.1051 p.Q351E 1.000 NULL pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND2D HGNC DIDO1 11083 genome.wustl.edu 37 20 61512828 61512828 + Missense_Mutation SNP C C G TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 20 61512828 61512828 C G SNP DIDO1 ENST00000266070 human ensembl 70_37 -1 known missense c.4480 p.E1494Q 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 DKK4 27121 genome.wustl.edu 37 8 42231857 42231857 + Silent SNP G G A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 8 42231857 42231857 G A SNP DKK4 ENST00000220812 human ensembl 70_37 -1 known silent c.436 p.L146 1.000 pfam_Prokineticin_domain pfam_Dickkopf_N,pfam_Prokineticin_domain - no_errors DKK4 HGNC DNAH3 55567 genome.wustl.edu 37 16 20994204 20994204 + Missense_Mutation SNP C C T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 16 20994204 20994204 C T SNP DNAH3 ENST00000261383 human ensembl 70_37 -1 known missense c.7698 p.M2566I 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC DNAH8 1769 genome.wustl.edu 37 6 38830105 38830105 + Missense_Mutation SNP C C G TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 6 38830105 38830105 C G SNP DNAH8 ENST00000359357 human ensembl 70_37 +1 known missense c.5530 p.P1844A 1.000 smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH8 HGNC DNM3 26052 genome.wustl.edu 37 1 172348158 172348158 + Missense_Mutation SNP G G T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 1 172348158 172348158 G T SNP DNM3 ENST00000358155 human ensembl 70_37 +1 known missense c.1894 p.A632S 1.000 NULL pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,pfam_Pleckstrin_homology,smart_Dynamin_GTPase,smart_Pleckstrin_homology,smart_GED,pfscan_Pleckstrin_homology,prints_Dynamin - no_errors DNM3 HGNC DOCK9 23348 genome.wustl.edu 37 13 99481710 99481710 + Missense_Mutation SNP C C T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 13 99481710 99481710 C T SNP DOCK9 ENST00000339416 human ensembl 70_37 -1 known missense c.4750 p.A1584T 0.998 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK9 HGNC DPP6 1804 genome.wustl.edu 37 7 154519587 154519587 + Missense_Mutation SNP G G T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 7 154519587 154519587 G T SNP DPP6 ENST00000377770 human ensembl 70_37 +1 known missense c.873 p.W291C 1.000 pfam_Peptidase_S9B pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_PD40 - no_errors DPP6 HGNC DROSHA 29102 genome.wustl.edu 37 5 31526312 31526313 + Frame_Shift_Del DEL CT CT - TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 5 31526312 31526313 CT - DEL DROSHA ENST00000344624 human ensembl 70_37 -1 known frame_shift_del c.728_727 p.R243fs 1.000:0.998 NULL pfam_RNase_III_dom,pfam_Ds-RNA-bd,superfamily_RNase_III_dom,smart_RNase_III_dom,smart_Ds-RNA-bd,pfscan_Ds-RNA-bd,pfscan_RNase_III_dom - no_errors DROSHA HGNC EDARADD 128178 genome.wustl.edu 37 1 236577572 236577572 + Missense_Mutation SNP C C T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 1 236577572 236577572 C T SNP EDARADD ENST00000334232 human ensembl 70_37 +1 known missense c.133 p.P45S 1.000 NULL pfam_Death,superfamily_DEATH-like - no_errors EDARADD HGNC ENHO 375704 genome.wustl.edu 37 9 34521603 34521603 + Missense_Mutation SNP A A T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 9 34521603 34521603 A T SNP ENHO ENST00000399775 human ensembl 70_37 -1 known missense c.91 p.C31S 1.000 NULL NULL - no_errors ENHO HGNC ENPP3 5169 genome.wustl.edu 37 6 131962640 131962640 + Missense_Mutation SNP G G T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 6 131962640 131962640 G T SNP ENPP3 ENST00000357639 human ensembl 70_37 +1 known missense c.124 p.G42W 0.992 NULL pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom - no_errors ENPP3 HGNC ENSG00000183292 0 genome.wustl.edu 37 2 131334526 131334526 + Silent SNP C C G TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 2 131334526 131334526 C G SNP ENSG00000183292 ENST00000409982 human ensembl 70_37 +1 putative silent c.480 p.A160 0.016 NULL pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 - no_errors AC140481.2 Clone_based_vega_gene ENSG00000188242 0 genome.wustl.edu 37 5 472823 472823 + Missense_Mutation SNP G G T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 5 472823 472823 G T SNP ENSG00000188242 ENST00000342584 human ensembl 70_37 -1 putative missense c.228 p.F76L 0.001 NULL NULL - no_errors CTD-2228K2.5 Clone_based_vega_gene ENSG00000219665 0 genome.wustl.edu 37 19 12137825 12137825 + RNA SNP C C G TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 19 12137825 12137825 C G SNP ENSG00000219665 ENST00000406892 human ensembl 70_37 +1 known rna NULL NULL 0.660 - - - no_errors CTD-2006C1.2 Clone_based_vega_gene ENSG00000232151 0 genome.wustl.edu 37 1 149651005 149651008 + RNA DEL TTTG TTTG - TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 TTTG TTTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 1 149651005 149651008 TTTG - DEL ENSG00000232151 ENST00000445225 human ensembl 70_37 +1 known rna NULL NULL 0.378:0.380:0.381:0.380 - - - no_errors RP11-277L2.2 Clone_based_vega_gene ENSG00000255470 0 genome.wustl.edu 37 11 18210800 18210800 + Missense_Mutation SNP G G A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 11 18210800 18210800 G A SNP ENSG00000255470 ENST00000527671 human ensembl 70_37 -1 novel missense c.118 p.R40C 1.000 NULL NULL - no_errors RP11-113D6.6 Clone_based_vega_gene ENSG00000261460 0 genome.wustl.edu 37 15 72638463 72638463 + RNA SNP C C G TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 15 72638463 72638463 C G SNP ENSG00000261460 ENST00000570175 human ensembl 70_37 +1 known rna NULL NULL 0.007 - - - no_errors RP11-106M3.3 Clone_based_vega_gene ENSG00000266560 0 genome.wustl.edu 37 X 151283808 151283808 + RNA SNP A A T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd X 151283808 151283808 A T SNP ENSG00000266560 ENST00000509345 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-1007I13.4 Clone_based_vega_gene ESRRB 2103 genome.wustl.edu 37 14 76957920 76957920 + Silent SNP C C T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 14 76957920 76957920 C T SNP ESRRB ENST00000380887 human ensembl 70_37 +1 known silent c.918 p.I306 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core 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_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors ESRRB HGNC EYS 346007 genome.wustl.edu 37 6 66005999 66005999 + Missense_Mutation SNP G G C TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 6 66005999 66005999 G C SNP EYS ENST00000370616 human ensembl 70_37 -1 known missense c.1780 p.L594V 0.002 smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors EYS HGNC FAM178A 55719 genome.wustl.edu 37 10 102684122 102684122 + Missense_Mutation SNP A A G TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 10 102684122 102684122 A G SNP FAM178A ENST00000370269 human ensembl 70_37 +1 known missense c.1364 p.N455S 0.956 NULL NULL - no_errors FAM178A HGNC FAM5C 339479 genome.wustl.edu 37 1 190066940 190066940 + RNA SNP A A T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 1 190066940 190066940 A T SNP FAM5C ENST00000484105 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors FAM5C HGNC FAM9B 171483 genome.wustl.edu 37 X 8995967 8995967 + Missense_Mutation SNP C C T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd X 8995967 8995967 C T SNP FAM9B ENST00000327220 human ensembl 70_37 -1 known missense c.434 p.R145K 0.002 pfam_Cor1/Xlr/Xmr pfam_Cor1/Xlr/Xmr - no_errors FAM9B HGNC FBF1 85302 genome.wustl.edu 37 17 73910890 73910890 + Missense_Mutation SNP C C T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 17 73910890 73910890 C T SNP FBF1 ENST00000389570 human ensembl 70_37 -1 known missense c.2710 p.E904K 0.922 NULL superfamily_HRDC-like - no_errors FBF1 HGNC FBLN5 10516 genome.wustl.edu 37 14 92361324 92361324 + Missense_Mutation SNP C C T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 14 92361324 92361324 C T SNP FBLN5 ENST00000342058 human ensembl 70_37 -1 known missense c.472 p.G158R 1.000 pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom pfam_EGF-like_Ca-bd,superfamily_TIL_dom,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom - no_errors FBLN5 HGNC FKTN 2218 genome.wustl.edu 37 9 108337407 108337407 + Silent SNP T T C TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 9 108337407 108337407 T C SNP FKTN ENST00000223528 human ensembl 70_37 +1 known silent c.94 p.L32 1.000 NULL pfam_LicD,superfamily_Hedgehog_sig/DD-Pept_Zn-bd_dom - no_errors FKTN HGNC FLG 2312 genome.wustl.edu 37 1 152278983 152278983 + Missense_Mutation SNP G G C TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 1 152278983 152278983 G C SNP FLG ENST00000368799 human ensembl 70_37 -1 known missense c.8379 p.S2793R 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin - no_errors FLG HGNC FLNA 2316 genome.wustl.edu 37 X 153579990 153579990 + Missense_Mutation SNP G G T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd X 153579990 153579990 G T SNP FLNA ENST00000369850 human ensembl 70_37 -1 known missense c.6982 p.P2328T 1.000 superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNA HGNC FLT1 2321 genome.wustl.edu 37 13 28942801 28942801 + Splice_Site SNP C C G TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 13 28942801 28942801 C G SNP FLT1 ENST00000541932 human ensembl 70_37 -1 known splice_site c.2117-1 e15-1 0.006 - - - no_errors FLT1 HGNC FOXD4 2298 genome.wustl.edu 37 9 117854 117854 + Missense_Mutation SNP G G A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 9 117854 117854 G A SNP FOXD4 ENST00000382500 human ensembl 70_37 -1 known missense c.266 p.P89L 0.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXD4 HGNC FRG2B 441581 genome.wustl.edu 37 10 135438753 135438753 + Silent SNP G G A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 10 135438753 135438753 G A SNP FRG2B ENST00000443774 human ensembl 70_37 -1 known silent c.690 p.T230 0.707 NULL NULL - no_errors FRG2B HGNC FSBP 100861412 genome.wustl.edu 37 8 95448953 95448953 + Silent SNP G G A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 8 95448953 95448953 G A SNP FSBP ENST00000481490 human ensembl 70_37 -1 known silent c.144 p.I48 1.000 NULL NULL - no_errors FSBP HGNC GABRA5 2558 genome.wustl.edu 37 15 27193366 27193366 + Missense_Mutation SNP G G A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 15 27193366 27193366 G A SNP GABRA5 ENST00000335625 human ensembl 70_37 +1 known missense c.1375 p.A459T 0.001 prints_GABBAa5_rcpt pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa5_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRA5 HGNC GGNBP2 79893 genome.wustl.edu 37 17 34935768 34935768 + Missense_Mutation SNP C C G TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 17 34935768 34935768 C G SNP GGNBP2 ENST00000304718 human ensembl 70_37 +1 known missense c.939 p.I313M 1.000 NULL NULL - no_errors GGNBP2 HGNC GK2 2712 genome.wustl.edu 37 4 80328008 80328008 + Silent SNP G G A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 4 80328008 80328008 G A SNP GK2 ENST00000358842 human ensembl 70_37 -1 known silent c.1347 p.P449 0.010 pfam_Carb_kinase_FGGY_C,tigrfam_Glycerol_kin pfam_Carb_kinase_FGGY_N,pfam_Carb_kinase_FGGY_C,tigrfam_Glycerol_kin - no_errors GK2 HGNC GNAI2 2771 genome.wustl.edu 37 3 50296396 50296396 + RNA SNP G G C TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 3 50296396 50296396 G C SNP GNAI2 ENST00000491100 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors GNAI2 HGNC GOLGA4 2803 genome.wustl.edu 37 3 37360697 37360697 + RNA DEL T T - TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 3 37360697 37360697 T - DEL GOLGA4 ENST00000435830 human ensembl 70_37 +1 known rna NULL NULL 0.005 - - - no_errors GOLGA4 HGNC GOLGA4 2803 genome.wustl.edu 37 3 37365514 37365514 + Missense_Mutation SNP C C G TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 3 37365514 37365514 C G SNP GOLGA4 ENST00000361924 human ensembl 70_37 +1 known missense c.2137 p.Q713E 0.067 NULL pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,superfamily_t-SNARE,superfamily_Prefoldin,smart_GRIP,pfscan_GRIP - no_errors GOLGA4 HGNC GOLGA8DP 100132979 genome.wustl.edu 37 15 22709181 22709181 + RNA SNP C C T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 15 22709181 22709181 C T SNP GOLGA8DP ENST00000314246 human ensembl 70_37 -1 known rna NULL NULL 0.062 - - - no_errors GOLGA8DP HGNC GPC5 2262 genome.wustl.edu 37 13 92345909 92345909 + Missense_Mutation SNP C C T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 13 92345909 92345909 C T SNP GPC5 ENST00000377067 human ensembl 70_37 +1 known missense c.794 p.A265V 0.251 pfam_Glypican pfam_Glypican - no_errors GPC5 HGNC GRIN2A 2903 genome.wustl.edu 37 16 9857127 9857127 + Missense_Mutation SNP G G A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 16 9857127 9857127 G A SNP GRIN2A ENST00000330684 human ensembl 70_37 -1 known missense c.4274 p.S1425L 0.911 pfam_NMDAR2_C pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2A HGNC GRM8 2918 genome.wustl.edu 37 7 126249508 126249508 + Missense_Mutation SNP G G C TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 7 126249508 126249508 G C SNP GRM8 ENST00000339582 human ensembl 70_37 -1 known missense c.1402 p.P468A 1.000 pfam_ANF_lig-bd_rcpt pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_8,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4 - no_errors GRM8 HGNC GSTT1 2952 genome.wustl.edu 37 22 24381725 24381725 + Missense_Mutation SNP C C T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 22 24381725 24381725 C T SNP GSTT1 ENST00000248935 human ensembl 70_37 -1 known missense c.175 p.D59N 1.000 pfam_Glutathione_S-Trfase_N,superfamily_Thioredoxin-like_fold pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold - no_errors GSTT1 HGNC GTF3C5 9328 genome.wustl.edu 37 9 135919210 135919210 + Missense_Mutation SNP G G A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 9 135919210 135919210 G A SNP GTF3C5 ENST00000372108 human ensembl 70_37 +1 known missense c.469 p.E157K 1.000 pfam_TF_IIIC_su-5 pfam_TF_IIIC_su-5 - no_errors GTF3C5 HGNC HIST2H2AC 8338 genome.wustl.edu 37 1 149858613 149858613 + Missense_Mutation SNP G G C TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 1 149858613 149858613 G C SNP HIST2H2AC ENST00000331380 human ensembl 70_37 +1 known missense c.89 p.R30P 1.000 pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST2H2AC HGNC HPS6 79803 genome.wustl.edu 37 10 103827104 103827104 + Missense_Mutation SNP G G C TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 10 103827104 103827104 G C SNP HPS6 ENST00000299238 human ensembl 70_37 +1 known missense c.1873 p.E625Q 1.000 pirsf_BLOC-2_complex_Hps6_subunit pirsf_BLOC-2_complex_Hps6_subunit - no_errors HPS6 HGNC HYOU1 10525 genome.wustl.edu 37 11 118922230 118922230 + Missense_Mutation SNP G G C TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 11 118922230 118922230 G C SNP HYOU1 ENST00000404233 human ensembl 70_37 -1 known missense c.1446 p.I482M 1.000 pfam_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HYOU1 HGNC IGF2BP1 10642 genome.wustl.edu 37 17 47123357 47123357 + Missense_Mutation SNP C C T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 17 47123357 47123357 C T SNP IGF2BP1 ENST00000290341 human ensembl 70_37 +1 known missense c.1501 p.R501W 1.000 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,pfam_RRM_dom,smart_RRM_dom,smart_KH_dom,pfscan_KH_dom_type_1,pfscan_RRM_dom - no_errors IGF2BP1 HGNC IL1R2 7850 genome.wustl.edu 37 2 102644707 102644707 + Nonsense_Mutation SNP G G A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 2 102644707 102644707 G A SNP IL1R2 ENST00000332549 human ensembl 70_37 +1 known nonsense c.1050 p.W350* 0.968 prints_Interleukin-1_rcpt_II pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like,prints_Interleukin-1_rcpt_II,prints_IL1_rcpt_I/II - no_errors IL1R2 HGNC IRX2 153572 genome.wustl.edu 37 5 2749785 2749785 + Silent SNP C C T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 5 2749785 2749785 C T SNP IRX2 ENST00000302057 human ensembl 70_37 -1 known silent c.366 p.T122 0.996 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,smart_Iroquois_homeo,pfscan_Homeodomain - no_errors IRX2 HGNC ISY1 57461 genome.wustl.edu 37 3 128849395 128849395 + Missense_Mutation SNP C C T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 3 128849395 128849395 C T SNP ISY1 ENST00000273541 human ensembl 70_37 -1 known missense c.814 p.E272K 1.000 pfam_Isy1 pfam_Isy1 - no_errors ISY1 HGNC JPH3 57338 genome.wustl.edu 37 16 87724057 87724057 + Silent SNP C C T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 16 87724057 87724057 C T SNP JPH3 ENST00000284262 human ensembl 70_37 +1 known silent c.2091 p.F697 1.000 pirsf_Junctophilin pirsf_Junctophilin,pfam_MORN,smart_MORN - no_errors JPH3 HGNC KCNB2 9312 genome.wustl.edu 37 8 73480146 73480146 + Silent SNP G G A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 8 73480146 73480146 G A SNP KCNB2 ENST00000523207 human ensembl 70_37 +1 known silent c.177 p.T59 0.028 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv9 pfam_K_chnl_volt-dep_Kv2,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv2.2,prints_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv8 - no_errors KCNB2 HGNC KIAA1958 158405 genome.wustl.edu 37 9 115380203 115380203 + Silent SNP C C T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 9 115380203 115380203 C T SNP KIAA1958 ENST00000536272 human ensembl 70_37 +1 known silent c.1224 p.I408 1.000 NULL pfam_DUF3504,superfamily_Integrase_Lambda-type_N - no_errors KIAA1958 HGNC KIF25 3834 genome.wustl.edu 37 6 168418689 168418689 + RNA SNP C C A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 6 168418689 168418689 C A SNP KIF25 ENST00000515361 human ensembl 70_37 +1 known rna NULL NULL 0.006 - - - no_errors KIF25 HGNC KIFC1 3833 genome.wustl.edu 37 6 33366154 33366154 + Silent SNP C C T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 6 33366154 33366154 C T SNP KIFC1 ENST00000428849 human ensembl 70_37 +1 known silent c.240 p.G80 0.209 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIFC1 HGNC KLHDC4 54758 genome.wustl.edu 37 16 87764168 87764168 + Nonsense_Mutation SNP C C A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 16 87764168 87764168 C A SNP KLHDC4 ENST00000270583 human ensembl 70_37 -1 known nonsense c.589 p.E197* 1.000 pfam_Kelch_1 pfam_Kelch_2,pfam_Kelch_1 - no_errors KLHDC4 HGNC L3MBTL2 83746 genome.wustl.edu 37 22 41605844 41605844 + Missense_Mutation SNP G G A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 22 41605844 41605844 G A SNP L3MBTL2 ENST00000216237 human ensembl 70_37 +1 known missense c.169 p.E57K 0.670 NULL pfam_Mbt,smart_Mbt,pfscan_Mbt,pfscan_Znf_FCS - no_errors L3MBTL2 HGNC LCLAT1 253558 genome.wustl.edu 37 2 30828927 30828927 + Missense_Mutation SNP T T C TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 2 30828927 30828927 T C SNP LCLAT1 ENST00000319406 human ensembl 70_37 +1 known missense c.788 p.L263P 0.497 NULL pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase - no_errors LCLAT1 HGNC LINC00657 647979 genome.wustl.edu 37 20 34638258 34638258 + RNA SNP G G A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 20 34638258 34638258 G A SNP LINC00657 ENST00000565493 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors LINC00657 HGNC LOC440993 440993 genome.wustl.edu 37 3 195412514 195412515 + RNA INS - - C TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 3 195412514 195412515 - C INS LOC440993 ENST00000414625 human ensembl 70_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors AC069513.3 Clone_based_vega_gene LRCH3 84859 genome.wustl.edu 37 3 197547201 197547201 + Missense_Mutation SNP G G A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 3 197547201 197547201 G A SNP LRCH3 ENST00000443727 human ensembl 70_37 +1 known missense c.268 p.E90K 0.997 NULL NULL - no_errors LRCH3 HGNC LRCH3 84859 genome.wustl.edu 37 3 197547211 197547211 + Missense_Mutation SNP G G A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 3 197547211 197547211 G A SNP LRCH3 ENST00000438796 human ensembl 70_37 +1 known missense c.550 p.E184K 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_CH-domain,superfamily_CH-domain,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain - no_errors LRCH3 HGNC LRP12 29967 genome.wustl.edu 37 8 105502654 105502654 + RNA SNP C C G TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 8 105502654 105502654 C G SNP LRP12 ENST00000518375 human ensembl 70_37 -1 putative rna NULL NULL 0.980 - - - no_errors LRP12 HGNC LRP1B 53353 genome.wustl.edu 37 2 141625833 141625833 + Splice_Site DEL C C - TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 2 141625833 141625833 C - DEL LRP1B ENST00000389484 human ensembl 70_37 -1 known splice_site_del c.4170-1 e26-1 1.000 - - - no_errors LRP1B HGNC LTBP4 8425 genome.wustl.edu 37 19 41112348 41112348 + Missense_Mutation SNP G G C TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 19 41112348 41112348 G C SNP LTBP4 ENST00000308370 human ensembl 70_37 +1 known missense c.1108 p.G370R 1.000 pfam_EGF-like_Ca-bd,superfamily_TB_dom,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom pfam_EGF-like_Ca-bd,pfam_TB_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom - no_errors LTBP4 HGNC MAGEE1 57692 genome.wustl.edu 37 X 75648437 75648437 + Silent SNP T T C TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd X 75648437 75648437 T C SNP MAGEE1 ENST00000361470 human ensembl 70_37 +1 known silent c.114 p.A38 0.003 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEE1 HGNC MAS1L 116511 genome.wustl.edu 37 6 29454693 29454693 + Silent SNP G G C TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 6 29454693 29454693 G C SNP MAS1L ENST00000377127 human ensembl 70_37 -1 known silent c.987 p.L329 0.001 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors MAS1L HGNC MLLT3 4300 genome.wustl.edu 37 9 20414346 20414346 + Silent SNP G G A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 9 20414346 20414346 G A SNP MLLT3 ENST00000380338 human ensembl 70_37 -1 known silent c.498 p.S166 0.975 NULL pfam_YEATS,pfscan_YEATS - no_errors MLLT3 HGNC MLLT4 4301 genome.wustl.edu 37 6 168352292 168352292 + Missense_Mutation SNP G G C TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 6 168352292 168352292 G C SNP MLLT4 ENST00000366806 human ensembl 70_37 +1 known missense c.4237 p.E1413Q 0.979 NULL pfam_Ras-assoc,pfam_Dil_domain,pfam_PDZ,pfam_FHA_dom,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_FHA_dom,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc - no_errors MLLT4 HGNC MUC2 4583 genome.wustl.edu 37 11 1086013 1086013 + Silent SNP G G A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 11 1086013 1086013 G A SNP MUC2 ENST00000441003 human ensembl 70_37 +1 known silent c.2853 p.T951 0.000 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC2 HGNC MUC4 4585 genome.wustl.edu 37 3 195508307 195508307 + Missense_Mutation SNP T T C TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 3 195508307 195508307 T C SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.10144 p.I3382V 0.001 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC MYB 4602 genome.wustl.edu 37 6 135518263 135518263 + Missense_Mutation SNP G G C TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 6 135518263 135518263 G C SNP MYB ENST00000341911 human ensembl 70_37 +1 known missense c.1368 p.L456F 0.992 NULL pfam_C-myb_C,pfam_SANT/Myb,pfam_Tscrpt_reg_Wos2-domain,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors MYB HGNC MYO15A 51168 genome.wustl.edu 37 17 18022172 18022172 + Missense_Mutation SNP G G T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 17 18022172 18022172 G T SNP MYO15A ENST00000205890 human ensembl 70_37 +1 known missense c.58 p.A20S 0.683 NULL pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom - no_errors MYO15A HGNC MYO7B 4648 genome.wustl.edu 37 2 128379604 128379604 + Silent SNP C C T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 2 128379604 128379604 C T SNP MYO7B ENST00000389524 human ensembl 70_37 +1 known silent c.3495 p.F1165 1.000 pfam_MyTH4_dom,smart_MyTH4_dom,pfscan_MyTH4_dom pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_SH3_2,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom - no_errors MYO7B HGNC NDST3 9348 genome.wustl.edu 37 4 119158287 119158287 + Missense_Mutation SNP C C T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 4 119158287 119158287 C T SNP NDST3 ENST00000296499 human ensembl 70_37 +1 known missense c.2030 p.A677V 1.000 pfam_Sulfotransferase_dom pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom - no_errors NDST3 HGNC NLRP1 22861 genome.wustl.edu 37 17 5403371 5403371 + RNA SNP C C T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 17 5403371 5403371 C T SNP NLRP1 ENST00000568641 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors NLRP1 HGNC NRXN3 9369 genome.wustl.edu 37 14 79270053 79270053 + Missense_Mutation SNP G G A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 14 79270053 79270053 G A SNP NRXN3 ENST00000554738 human ensembl 70_37 +1 known missense c.2129 p.R710H 1.000 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN3 HGNC OPN1MW 2652 genome.wustl.edu 37 X 153459060 153459060 + Missense_Mutation SNP G G C TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd X 153459060 153459060 G C SNP OPN1MW ENST00000369935 human ensembl 70_37 +1 known missense c.906 p.L302F 0.995 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_Opsin_red/grn,prints_Opsin pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_Opsin_red/grn,prints_GPCR_Rhodpsn,prints_Opsin - no_errors OPN1MW HGNC OR10K2 391107 genome.wustl.edu 37 1 158389870 158389870 + Nonsense_Mutation SNP G G A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 1 158389870 158389870 G A SNP OR10K2 ENST00000314902 human ensembl 70_37 -1 known nonsense c.787 p.Q263* 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10K2 HGNC OR10S1 219873 genome.wustl.edu 37 11 123848062 123848062 + Missense_Mutation SNP C C T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 11 123848062 123848062 C T SNP OR10S1 ENST00000531945 human ensembl 70_37 -1 known missense c.337 p.V113I 0.000 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 OR10S1 HGNC OR1N2 138882 genome.wustl.edu 37 9 125315488 125315488 + Missense_Mutation SNP G G A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 9 125315488 125315488 G A SNP OR1N2 ENST00000373688 human ensembl 70_37 +1 known missense c.40 p.G14R 0.944 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1N2 HGNC OR52W1 120787 genome.wustl.edu 37 11 6221355 6221355 + Missense_Mutation SNP G G A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 11 6221355 6221355 G A SNP OR52W1 ENST00000311352 human ensembl 70_37 +1 known missense c.902 p.R301H 0.749 prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt - no_errors OR52W1 HGNC OR5A2 219981 genome.wustl.edu 37 11 59189567 59189567 + Missense_Mutation SNP T T A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 11 59189567 59189567 T A SNP OR5A2 ENST00000302040 human ensembl 70_37 -1 known missense c.860 p.N287I 0.998 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5A2 HGNC OR9Q2 219957 genome.wustl.edu 37 11 57958484 57958484 + Missense_Mutation SNP C C G TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 11 57958484 57958484 C G SNP OR9Q2 ENST00000311591 human ensembl 70_37 +1 known missense c.522 p.I174M 0.002 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 OR9Q2 HGNC OTOG 340990 genome.wustl.edu 37 11 17617633 17617633 + Nonsense_Mutation SNP C C T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 11 17617633 17617633 C T SNP OTOG ENST00000399391 human ensembl 70_37 +1 known nonsense c.3493 p.R1165* 1.000 NULL 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 PADI4 23569 genome.wustl.edu 37 1 17672565 17672565 + Silent SNP G G C TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 1 17672565 17672565 G C SNP PADI4 ENST00000375448 human ensembl 70_37 +1 known silent c.978 p.L326 1.000 pfam_PAD_C,pirsf_Protein-arginine_deiminase_sub pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub - no_errors PADI4 HGNC PAPPA 5069 genome.wustl.edu 37 9 119094720 119094720 + Missense_Mutation SNP G G A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 9 119094720 119094720 G A SNP PAPPA ENST00000328252 human ensembl 70_37 +1 known missense c.3370 p.D1124N 1.000 NULL pfam_Sushi_SCR_CCP,pfam_Notch_dom,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Complement_control_module,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA HGNC PARPBP 55010 genome.wustl.edu 37 12 102517807 102517807 + Silent SNP G G A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 12 102517807 102517807 G A SNP PARPBP ENST00000358383 human ensembl 70_37 +1 known silent c.141 p.E47 1.000 NULL NULL - no_errors PARPBP HGNC PCDH10 57575 genome.wustl.edu 37 4 134071436 134071436 + Missense_Mutation SNP A A C TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 4 134071436 134071436 A C SNP PCDH10 ENST00000264360 human ensembl 70_37 +1 known missense c.141 p.K47N 1.000 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH10 HGNC PCDH17 27253 genome.wustl.edu 37 13 58299233 58299233 + Missense_Mutation SNP G G C TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 13 58299233 58299233 G C SNP PCDH17 ENST00000377918 human ensembl 70_37 +1 known missense c.3285 p.Q1095H 1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH17 HGNC PEAK1 79834 genome.wustl.edu 37 15 77474169 77474169 + Missense_Mutation SNP C C G TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 15 77474169 77474169 C G SNP PEAK1 ENST00000312493 human ensembl 70_37 -1 known missense c.100 p.E34Q 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom - no_errors PEAK1 Uniprot_genename PER2 8864 genome.wustl.edu 37 2 239180028 239180028 + Missense_Mutation SNP G G A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 2 239180028 239180028 G A SNP PER2 ENST00000254657 human ensembl 70_37 -1 known missense c.697 p.P233S 1.000 smart_PAS pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,smart_PAS,pfscan_PAS - no_errors PER2 HGNC PEX14 5195 genome.wustl.edu 37 1 10678417 10678417 + Silent SNP C C T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 1 10678417 10678417 C T SNP PEX14 ENST00000356607 human ensembl 70_37 +1 known silent c.327 p.Y109 0.961 pfam_Pex14_N pfam_Pex14_N - no_errors PEX14 HGNC PHF16 9767 genome.wustl.edu 37 X 46918303 46918303 + Missense_Mutation SNP G G A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd X 46918303 46918303 G A SNP PHF16 ENST00000218343 human ensembl 70_37 +1 known missense c.2296 p.G766S 1.000 NULL pfam_Enhancer_polycomb-like_N,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF16 HGNC PHF8 23133 genome.wustl.edu 37 X 54040926 54040926 + Missense_Mutation SNP C C T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd X 54040926 54040926 C T SNP PHF8 ENST00000357988 human ensembl 70_37 -1 known missense c.775 p.E259K 1.000 smart_JmjC_dom,pfscan_JmjC_dom pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger - no_errors PHF8 HGNC PHIP 55023 genome.wustl.edu 37 6 79655921 79655921 + Missense_Mutation SNP G G A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 6 79655921 79655921 G A SNP PHIP ENST00000275034 human ensembl 70_37 -1 known missense c.4427 p.S1476F 1.000 NULL pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quinonprotein_ADH-like,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors PHIP HGNC PLEKHG4 25894 genome.wustl.edu 37 16 67313990 67313990 + Missense_Mutation SNP C C G TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 16 67313990 67313990 C G SNP PLEKHG4 ENST00000360461 human ensembl 70_37 +1 known missense c.43 p.Q15E 0.041 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG4 HGNC POU4F2 5458 genome.wustl.edu 37 4 147560396 147560396 + Missense_Mutation SNP G G T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 4 147560396 147560396 G T SNP POU4F2 ENST00000281321 human ensembl 70_37 +1 known missense c.104 p.G35V 0.994 NULL pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,pfscan_Homeodomain,pfscan_POU_specific,prints_POU - no_errors POU4F2 HGNC PPIP5K2 23262 genome.wustl.edu 37 5 102491616 102491616 + Silent SNP T T C TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 5 102491616 102491616 T C SNP PPIP5K2 ENST00000358359 human ensembl 70_37 +1 known silent c.1407 p.Y469 1.000 pfam_His_Pase_superF_clade-2 pfam_His_Pase_superF_clade-2 - no_errors PPIP5K2 HGNC PRDM15 63977 genome.wustl.edu 37 21 43256674 43256674 + Missense_Mutation SNP G G C TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 21 43256674 43256674 G C SNP PRDM15 ENST00000269844 human ensembl 70_37 -1 known missense c.2184 p.I728M 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM15 HGNC PRDM9 56979 genome.wustl.edu 37 5 23521142 23521142 + Missense_Mutation SNP A A G TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 5 23521142 23521142 A G SNP PRDM9 ENST00000296682 human ensembl 70_37 +1 known missense c.362 p.K121R 0.000 NULL 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 PRG4 10216 genome.wustl.edu 37 1 186273271 186273271 + Missense_Mutation SNP G G C TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 1 186273271 186273271 G C SNP PRG4 ENST00000445192 human ensembl 70_37 +1 known missense c.351 p.K117N 0.836 NULL pfam_Somatomedin_B_dom,pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Somatomedin_B_dom,smart_Hemopexin/matrixin_repeat,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata - no_errors PRG4 HGNC PRICKLE2-AS1 100652759 genome.wustl.edu 37 3 64083625 64083625 + RNA SNP C C G TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 3 64083625 64083625 C G SNP PRICKLE2-AS1 ENST00000482609 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-129B22.1 Clone_based_vega_gene PRKCZ 5590 genome.wustl.edu 37 1 2087451 2087451 + Silent SNP G G A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 1 2087451 2087451 G A SNP PRKCZ ENST00000378567 human ensembl 70_37 +1 known silent c.894 p.Q298 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_PKC_zeta,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_OPR_PB1,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_OPR_PB1,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_PKC_zeta,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd - no_errors PRKCZ HGNC PRKD1 5587 genome.wustl.edu 37 14 30396556 30396556 + Missense_Mutation SNP T T A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 14 30396556 30396556 T A SNP PRKD1 ENST00000331968 human ensembl 70_37 -1 known missense c.163 p.I55F 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd - no_errors PRKD1 HGNC PROCR 10544 genome.wustl.edu 37 20 33764083 33764083 + Silent SNP G G A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 20 33764083 33764083 G A SNP PROCR ENST00000216968 human ensembl 70_37 +1 known silent c.435 p.P145 0.020 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog - no_errors PROCR HGNC PROSAPIP1 9762 genome.wustl.edu 37 20 3146539 3146539 + Silent SNP G G A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 20 3146539 3146539 G A SNP PROSAPIP1 ENST00000329152 human ensembl 70_37 -1 known silent c.927 p.F309 0.994 NULL pfam_Fez1 - no_errors PROSAPIP1 Uniprot_genename PROX2 283571 genome.wustl.edu 37 14 75329962 75329962 + Missense_Mutation SNP G G T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 14 75329962 75329962 G T SNP PROX2 ENST00000445876 human ensembl 70_37 -1 known missense c.576 p.H192Q 0.000 NULL pfam_Prox1,superfamily_Homeodomain-like - no_errors PROX2 HGNC PRPF38B 55119 genome.wustl.edu 37 1 109241261 109241261 + Missense_Mutation SNP G G A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 1 109241261 109241261 G A SNP PRPF38B ENST00000370025 human ensembl 70_37 +1 known missense c.594 p.M198I 1.000 pfam_PRP38 pfam_PRP38 - no_errors PRPF38B HGNC PRPF4B 8899 genome.wustl.edu 37 6 4037792 4037792 + Missense_Mutation SNP C C T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 6 4037792 4037792 C T SNP PRPF4B ENST00000337659 human ensembl 70_37 +1 known missense c.1400 p.S467F 1.000 NULL pfam_Prot_kinase_cat_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_cat_dom - no_errors PRPF4B HGNC PTCH2 8643 genome.wustl.edu 37 1 45292952 45292952 + Missense_Mutation SNP C C T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 1 45292952 45292952 C T SNP PTCH2 ENST00000372192 human ensembl 70_37 -1 known missense c.2401 p.A801T 1.000 pfam_Patched,tigrfam_TM_rcpt_patched pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched - no_errors PTCH2 HGNC PTGFRN 5738 genome.wustl.edu 37 1 117509728 117509728 + Missense_Mutation SNP C C T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 1 117509728 117509728 C T SNP PTGFRN ENST00000393203 human ensembl 70_37 +1 known missense c.1835 p.S612F 0.518 smart_Ig_sub pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors PTGFRN HGNC PTGFRN 5738 genome.wustl.edu 37 1 117509950 117509950 + Nonsense_Mutation SNP C C G TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 1 117509950 117509950 C G SNP PTGFRN ENST00000393203 human ensembl 70_37 +1 known nonsense c.2057 p.S686* 1.000 NULL pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors PTGFRN HGNC PTPRD 5789 genome.wustl.edu 37 9 8499796 8499796 + Missense_Mutation SNP A A T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 9 8499796 8499796 A T SNP PTPRD ENST00000356435 human ensembl 70_37 -1 known missense c.2173 p.S725T 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 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-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRD HGNC PTPRM 5797 genome.wustl.edu 37 18 8143731 8143731 + Silent SNP C C T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 18 8143731 8143731 C T SNP PTPRM ENST00000400060 human ensembl 70_37 +1 known silent c.2254 p.L752 1.000 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRM HGNC PTPRR 5801 genome.wustl.edu 37 12 71286716 71286716 + Nonsense_Mutation SNP G G A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 12 71286716 71286716 G A SNP PTPRR ENST00000283228 human ensembl 70_37 -1 known nonsense c.100 p.Q34* 1.000 pirsf_Tyr_Pase_rcpt_R/non-rcpt_5 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_rcpt_R/non-rcpt_5,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_KIM-con,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRR HGNC PTX4 390667 genome.wustl.edu 37 16 1537772 1537772 + Missense_Mutation SNP C C T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 16 1537772 1537772 C T SNP PTX4 ENST00000447419 human ensembl 70_37 -1 known missense c.341 p.R114Q 0.022 NULL pfam_Pentaxin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin - no_errors PTX4 HGNC RGS3 5998 genome.wustl.edu 37 9 116346522 116346522 + Missense_Mutation SNP G G A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 9 116346522 116346522 G A SNP RGS3 ENST00000350696 human ensembl 70_37 +1 known missense c.2830 p.E944K 1.000 NULL pfam_Regulat_G_prot_signal,pfam_C2_Ca-dep,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,smart_C2_Ca-dep,smart_PDZ,smart_Regulat_G_prot_signal,pfscan_C2_membr_targeting,pfscan_PDZ,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal - no_errors RGS3 HGNC RNPC3 55599 genome.wustl.edu 37 1 104076467 104076467 + Frame_Shift_Del DEL A A - TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 1 104076467 104076467 A - DEL RNPC3 ENST00000423855 human ensembl 70_37 +1 known frame_shift_del c.347 p.K119fs 0.784 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RNPC3 HGNC ROBO1 6091 genome.wustl.edu 37 3 78735011 78735011 + Missense_Mutation SNP C C G TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 3 78735011 78735011 C G SNP ROBO1 ENST00000464233 human ensembl 70_37 -1 known missense c.1227 p.Q409H 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors ROBO1 HGNC ROCK2 9475 genome.wustl.edu 37 2 11337678 11337678 + Missense_Mutation SNP G G C TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 2 11337678 11337678 G C SNP ROCK2 ENST00000315872 human ensembl 70_37 -1 known missense c.3253 p.Q1085E 1.000 pirsf_Rho-assoc_coiled-coil_kin pfam_Prot_kinase_cat_dom,pfam_Rho-bd,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_tRNA-bd_arm,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom - no_errors ROCK2 HGNC RPAIN 84268 genome.wustl.edu 37 17 5329310 5329310 + Missense_Mutation SNP G G T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 17 5329310 5329310 G T SNP RPAIN ENST00000405578 human ensembl 70_37 +1 known missense c.333 p.E111D 0.979 NULL NULL - no_errors RPAIN HGNC RRBP1 6238 genome.wustl.edu 37 20 17640216 17640216 + Missense_Mutation SNP C C T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 20 17640216 17640216 C T SNP RRBP1 ENST00000246043 human ensembl 70_37 -1 known missense c.937 p.E313K 0.004 NULL pfam_Rib_rcpt_KP,superfamily_Ribosome_recyc_fac_dom - no_errors RRBP1 HGNC RRNAD1 51093 genome.wustl.edu 37 1 156705540 156705540 + Missense_Mutation SNP G G A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 1 156705540 156705540 G A SNP RRNAD1 ENST00000368216 human ensembl 70_37 +1 known missense c.1145 p.R382Q 1.000 NULL NULL - no_errors RRNAD1 HGNC RTBDN 83546 genome.wustl.edu 37 19 12936680 12936680 + Missense_Mutation SNP C C T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 19 12936680 12936680 C T SNP RTBDN ENST00000322912 human ensembl 70_37 -1 known missense c.626 p.G209E 0.071 pfam_Folate_rcpt-like pfam_Folate_rcpt-like - no_errors RTBDN HGNC RUFY2 55680 genome.wustl.edu 37 10 70105422 70105422 + RNA SNP C C A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 10 70105422 70105422 C A SNP RUFY2 ENST00000466187 human ensembl 70_37 -1 known rna NULL NULL 0.004 - - - no_errors RUFY2 HGNC S1PR3 1903 genome.wustl.edu 37 9 91616521 91616521 + Missense_Mutation SNP C C T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 9 91616521 91616521 C T SNP S1PR3 ENST00000358157 human ensembl 70_37 +1 known missense c.406 p.R136W 0.997 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_EDG3_rcpt,prints_S1P_rcpt,prints_GPCR_Rhodpsn,prints_EDG1_rcpt,prints_Cnbnoid_rcpt - no_errors S1PR3 HGNC SAMSN1 64092 genome.wustl.edu 37 21 15858251 15858251 + Silent SNP G G A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 21 15858251 15858251 G A SNP SAMSN1 ENST00000400566 human ensembl 70_37 -1 known silent c.1104 p.I368 0.993 NULL pfam_rSAM/SH3_domain-containing,pfam_SAM_2,pfam_SAM_type1,pfam_SH3_2,superfamily_SAM/pointed,superfamily_SH3_domain,smart_SH3_domain,smart_SAM,pfscan_SAM - no_errors SAMSN1 HGNC SCARNA14 692149 genome.wustl.edu 37 15 66639586 66639586 + RNA SNP G G C TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 15 66639586 66639586 G C SNP SCARNA14 ENST00000516903 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors SCARNA14 HGNC SCML4 256380 genome.wustl.edu 37 6 108066240 108066240 + Missense_Mutation SNP C C T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 6 108066240 108066240 C T SNP SCML4 ENST00000369021 human ensembl 70_37 -1 known missense c.508 p.D170N 1.000 pfam_DUF3588 pfam_DUF3588 - no_errors SCML4 HGNC SCO1 6341 genome.wustl.edu 37 17 10600725 10600725 + Missense_Mutation SNP C C T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 17 10600725 10600725 C T SNP SCO1 ENST00000255390 human ensembl 70_37 -1 known missense c.100 p.E34K 0.000 pirsf_Synth_of_cyt-c-oxidase_Sco1/2 pfam_SCO1/SenC,pfam_AhpC/TSA,superfamily_Thioredoxin-like_fold,pirsf_Synth_of_cyt-c-oxidase_Sco1/2 - no_errors SCO1 HGNC SEMA6D 80031 genome.wustl.edu 37 15 48056979 48056979 + Missense_Mutation SNP G G C TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 15 48056979 48056979 G C SNP SEMA6D ENST00000316364 human ensembl 70_37 +1 known missense c.1242 p.K414N 1.000 pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag - no_errors SEMA6D HGNC SLC16A3 9123 genome.wustl.edu 37 17 80195168 80195168 + Silent SNP C C T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 17 80195168 80195168 C T SNP SLC16A3 ENST00000392339 human ensembl 70_37 +1 known silent c.522 p.Y174 0.214 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt - no_errors SLC16A3 HGNC SLC16A3 9123 genome.wustl.edu 37 17 80195570 80195570 + Silent SNP G G A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 17 80195570 80195570 G A SNP SLC16A3 ENST00000392339 human ensembl 70_37 +1 known silent c.924 p.A308 0.051 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt - no_errors SLC16A3 HGNC SLC18A3 6572 genome.wustl.edu 37 10 50819456 50819456 + Missense_Mutation SNP G G A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 10 50819456 50819456 G A SNP SLC18A3 ENST00000374115 human ensembl 70_37 +1 known missense c.670 p.G224R 1.000 pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC18A3 HGNC SLC26A10 65012 genome.wustl.edu 37 12 58019078 58019078 + Missense_Mutation SNP G G A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 12 58019078 58019078 G A SNP SLC26A10 ENST00000320442 human ensembl 70_37 +1 known missense c.1438 p.A480T 1.000 pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom - no_errors SLC26A10 HGNC SLC30A1 7779 genome.wustl.edu 37 1 211748962 211748962 + Missense_Mutation SNP A A G TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 1 211748962 211748962 A G SNP SLC30A1 ENST00000367001 human ensembl 70_37 -1 known missense c.1292 p.V431A 0.784 NULL pfam_Cation_efflux,tigrfam_Cation_efflux - no_errors SLC30A1 HGNC SLC39A8 64116 genome.wustl.edu 37 4 103180638 103180638 + Missense_Mutation SNP G G C TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 4 103180638 103180638 G C SNP SLC39A8 ENST00000424970 human ensembl 70_37 -1 known missense c.1300 p.Q434E 0.015 NULL pfam_ZIP - no_errors SLC39A8 HGNC SLC4A4 8671 genome.wustl.edu 37 4 72363244 72363245 + Frame_Shift_Ins INS - - T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 4 72363244 72363245 - T INS SLC4A4 ENST00000425175 human ensembl 70_37 +1 known frame_shift_ins c.2001_2002 p.L668fs 0.007:0.005 pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk - no_errors SLC4A4 HGNC SLC9C1 285335 genome.wustl.edu 37 3 111901081 111901081 + Missense_Mutation SNP C C A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 3 111901081 111901081 C A SNP SLC9C1 ENST00000305815 human ensembl 70_37 -1 known missense c.2548 p.V850L 0.000 NULL pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors SLC9C1 HGNC SPATA31E1 286234 genome.wustl.edu 37 9 90503153 90503153 + Nonsense_Mutation SNP C C T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 9 90503153 90503153 C T SNP SPATA31E1 ENST00000325643 human ensembl 70_37 +1 known nonsense c.3751 p.Q1251* 0.000 NULL NULL - no_errors SPATA31E1 HGNC SPRY1 10252 genome.wustl.edu 37 4 124323415 124323415 + Missense_Mutation SNP C C G TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 4 124323415 124323415 C G SNP SPRY1 ENST00000339241 human ensembl 70_37 +1 known missense c.669 p.C223W 1.000 pfam_Sprouty pfam_Sprouty - no_errors SPRY1 HGNC SPRY3 10251 genome.wustl.edu 37 X 155003588 155003588 + Missense_Mutation SNP C C T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd X 155003588 155003588 C T SNP SPRY3 ENST00000302805 human ensembl 70_37 +1 known missense c.55 p.R19C 1.000 NULL pfam_Sprouty - no_errors SPRY3 HGNC STAT5A 6776 genome.wustl.edu 37 17 40441935 40441935 + Silent SNP C C G TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 17 40441935 40441935 C G SNP STAT5A ENST00000345506 human ensembl 70_37 +1 known silent c.180 p.L60 1.000 pfam_STAT_TF_prot_interaction,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2 - no_errors STAT5A HGNC SYBU 55638 genome.wustl.edu 37 8 110587517 110587517 + Missense_Mutation SNP G G A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 8 110587517 110587517 G A SNP SYBU ENST00000276646 human ensembl 70_37 -1 known missense c.1610 p.S537F 0.401 NULL NULL - no_errors SYBU HGNC SYCP2 10388 genome.wustl.edu 37 20 58443602 58443602 + Missense_Mutation SNP C C T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 20 58443602 58443602 C T SNP SYCP2 ENST00000357552 human ensembl 70_37 -1 known missense c.3854 p.R1285H 0.055 NULL NULL - no_errors SYCP2 HGNC SYNE1 23345 genome.wustl.edu 37 6 152552684 152552684 + Missense_Mutation SNP T T A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 6 152552684 152552684 T A SNP SYNE1 ENST00000265368 human ensembl 70_37 -1 known missense c.20881 p.N6961Y 1.000 superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC SYNPO2L 79933 genome.wustl.edu 37 10 75407373 75407373 + Silent SNP G G C TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 10 75407373 75407373 G C SNP SYNPO2L ENST00000394810 human ensembl 70_37 -1 known silent c.2037 p.L679 0.959 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SYNPO2L HGNC SYT8 90019 genome.wustl.edu 37 11 1852698 1852698 + Missense_Mutation SNP C C G TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 11 1852698 1852698 C G SNP SYT8 ENST00000535046 human ensembl 70_37 +1 known missense c.16 p.P6A 0.000 NULL NULL - no_errors SYT8 HGNC TARSL2 123283 genome.wustl.edu 37 15 102215848 102215848 + Silent SNP C C A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 15 102215848 102215848 C A SNP TARSL2 ENST00000335968 human ensembl 70_37 -1 known silent c.1743 p.P581 0.910 pfam_aa-tRNA-synt_IIb_cons-dom,pfscan_aa-tRNA-synth_II,tigrfam_Thr-tRNA-ligase_IIa pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tRNA_SAD,pfscan_aa-tRNA-synth_II,prints_Thr-tRNA-ligase_IIa,tigrfam_Thr-tRNA-ligase_IIa - no_errors TARSL2 HGNC TEDDM1 127670 genome.wustl.edu 37 1 182369123 182369123 + Missense_Mutation SNP C C T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 1 182369123 182369123 C T SNP TEDDM1 ENST00000367565 human ensembl 70_37 -1 known missense c.498 p.M166I 0.002 pfam_DUF716_TMEM45 pfam_DUF716_TMEM45 - no_errors TEDDM1 HGNC THSD7A 221981 genome.wustl.edu 37 7 11630259 11630259 + Nonsense_Mutation SNP C C T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 7 11630259 11630259 C T SNP THSD7A ENST00000423059 human ensembl 70_37 -1 known nonsense c.1281 p.W427* 1.000 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7A HGNC TLE4 7091 genome.wustl.edu 37 9 82323513 82323513 + Missense_Mutation SNP A A G TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 9 82323513 82323513 A G SNP TLE4 ENST00000376520 human ensembl 70_37 +1 known missense c.1171 p.S391G 1.000 NULL pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance - no_errors TLE4 HGNC TM9SF3 56889 genome.wustl.edu 37 10 98303715 98303715 + RNA SNP G G A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 10 98303715 98303715 G A SNP TM9SF3 ENST00000490192 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors TM9SF3 HGNC TMEM102 284114 genome.wustl.edu 37 17 7339258 7339258 + Missense_Mutation SNP T T A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 17 7339258 7339258 T A SNP TMEM102 ENST00000323206 human ensembl 70_37 +1 known missense c.68 p.L23H 1.000 NULL NULL - no_errors TMEM102 HGNC TMEM132C 92293 genome.wustl.edu 37 12 129189821 129189821 + Nonsense_Mutation SNP C C T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 12 129189821 129189821 C T SNP TMEM132C ENST00000435159 human ensembl 70_37 +1 known nonsense c.2308 p.R770* 0.991 NULL NULL - no_errors TMEM132C HGNC TNFAIP2 7127 genome.wustl.edu 37 14 103592960 103592960 + Nonsense_Mutation SNP C C T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 14 103592960 103592960 C T SNP TNFAIP2 ENST00000333007 human ensembl 70_37 +1 known nonsense c.166 p.Q56* 0.010 NULL pfam_Sec6 - no_errors TNFAIP2 HGNC TNRC18 84629 genome.wustl.edu 37 7 5417088 5417088 + Missense_Mutation SNP G G A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 7 5417088 5417088 G A SNP TNRC18 ENST00000399537 human ensembl 70_37 -1 known missense c.2375 p.S792F 0.998 NULL pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors TNRC18 HGNC TNXB 7148 genome.wustl.edu 37 6 32053854 32053854 + Missense_Mutation SNP G G T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 6 32053854 32053854 G T SNP TNXB ENST00000375247 human ensembl 70_37 -1 known missense c.2821 p.P941T 1.000 NULL pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC TRERF1 55809 genome.wustl.edu 37 6 42231041 42231041 + Missense_Mutation SNP G G A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 6 42231041 42231041 G A SNP TRERF1 ENST00000541110 human ensembl 70_37 -1 known missense c.1901 p.S634F 1.000 NULL pfam_ELM2_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_SANT/Myb,pfscan_ELM2_dom,pfscan_Znf_C2H2 - no_errors TRERF1 HGNC TRIM32 22954 genome.wustl.edu 37 9 119460693 119460693 + Missense_Mutation SNP G G C TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 9 119460693 119460693 G C SNP TRIM32 ENST00000373983 human ensembl 70_37 +1 known missense c.672 p.Q224H 1.000 NULL pfam_NHL_repeat,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_NHL_repeat_subgr,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM32 HGNC TRIM37 4591 genome.wustl.edu 37 17 57134235 57134235 + Splice_Site SNP C C T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 17 57134235 57134235 C T SNP TRIM37 ENST00000262294 human ensembl 70_37 -1 known splice_site c.1199+1 e13+1 1.000 - - - no_errors TRIM37 HGNC TRUB2 26995 genome.wustl.edu 37 9 131071960 131071960 + Missense_Mutation SNP G G C TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 9 131071960 131071960 G C SNP TRUB2 ENST00000372890 human ensembl 70_37 -1 known missense c.865 p.Q289E 0.993 superfamily_PsdUridine_synth_cat_dom pfam_PsdUridine_synth,superfamily_PsdUridine_synth_cat_dom - no_errors TRUB2 HGNC TRUB2 26995 genome.wustl.edu 37 9 131072039 131072039 + Silent SNP G G A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 9 131072039 131072039 G A SNP TRUB2 ENST00000372890 human ensembl 70_37 -1 known silent c.786 p.F262 0.985 superfamily_PsdUridine_synth_cat_dom pfam_PsdUridine_synth,superfamily_PsdUridine_synth_cat_dom - no_errors TRUB2 HGNC TRUB2 26995 genome.wustl.edu 37 9 131073194 131073194 + Silent SNP G G A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 9 131073194 131073194 G A SNP TRUB2 ENST00000372890 human ensembl 70_37 -1 known silent c.642 p.L214 0.953 pfam_PsdUridine_synth,superfamily_PsdUridine_synth_cat_dom pfam_PsdUridine_synth,superfamily_PsdUridine_synth_cat_dom - no_errors TRUB2 HGNC TSPAN5 10098 genome.wustl.edu 37 4 99407914 99407914 + Missense_Mutation SNP C C T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 4 99407914 99407914 C T SNP TSPAN5 ENST00000305798 human ensembl 70_37 -1 known missense c.254 p.R85Q 0.998 pfam_Tetraspanin/Peripherin,prints_Tetraspanin pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN5 HGNC TSSC4 10078 genome.wustl.edu 37 11 2424522 2424522 + Missense_Mutation SNP G G A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 11 2424522 2424522 G A SNP TSSC4 ENST00000333256 human ensembl 70_37 +1 known missense c.659 p.R220Q 0.044 NULL NULL - no_errors TSSC4 HGNC TSSK6 83983 genome.wustl.edu 37 19 19625906 19625906 + Missense_Mutation SNP G G C TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 19 19625906 19625906 G C SNP TSSK6 ENST00000360913 human ensembl 70_37 -1 known missense c.331 p.Q111E 0.863 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors TSSK6 HGNC TTN 7273 genome.wustl.edu 37 2 179615204 179615204 + Missense_Mutation SNP C C T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 2 179615204 179615204 C T SNP TTN ENST00000360870 human ensembl 70_37 -1 known missense c.11923 p.V3975M 0.971 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors TTN HGNC UQCRB 7381 genome.wustl.edu 37 8 97244130 97244130 + Missense_Mutation SNP C C A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 8 97244130 97244130 C A SNP UQCRB ENST00000521036 human ensembl 70_37 -1 known missense c.130 p.V44L 1.000 pfam_Cyt-d_ubiquinol_oxidase_14kDa,superfamily_Cyt-d_ubiquinol_oxidase_14kDa pfam_Cyt-d_ubiquinol_oxidase_14kDa,superfamily_Cyt-d_ubiquinol_oxidase_14kDa - no_errors UQCRB HGNC UROC1 131669 genome.wustl.edu 37 3 126201220 126201220 + Nonsense_Mutation SNP C C A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 3 126201220 126201220 C A SNP UROC1 ENST00000290868 human ensembl 70_37 -1 known nonsense c.1999 p.E667* 0.849 NULL pfam_Urocanase_dom,superfamily_Urocanase_dom,pirsf_Urocanase - no_errors UROC1 HGNC USP26 83844 genome.wustl.edu 37 X 132159937 132159937 + Missense_Mutation SNP T T G TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd X 132159937 132159937 T G SNP USP26 ENST00000370832 human ensembl 70_37 -1 known missense c.2312 p.N771T 0.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP26 HGNC VWA2 340706 genome.wustl.edu 37 10 116048803 116048803 + Silent SNP C C T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 10 116048803 116048803 C T SNP VWA2 ENST00000392982 human ensembl 70_37 +1 known silent c.1677 p.L559 0.253 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_EG-like_dom,pfam_EGF_extracell,smart_VWF_A,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_VWF_A - no_errors VWA2 HGNC WIZ 58525 genome.wustl.edu 37 19 15538983 15538983 + Missense_Mutation SNP G G A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 19 15538983 15538983 G A SNP WIZ ENST00000545156 human ensembl 70_37 -1 known missense c.980 p.S327L 0.993 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors WIZ HGNC WWOX 51741 genome.wustl.edu 37 16 78466571 78466571 + Missense_Mutation SNP G G A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 16 78466571 78466571 G A SNP WWOX ENST00000566780 human ensembl 70_37 +1 known missense c.978 p.M326I 1.000 prints_Glc/ribitol_DH pfam_WW_Rsp5_WWP,pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP,prints_Glc/ribitol_DH - no_errors WWOX HGNC ZBTB33 10009 genome.wustl.edu 37 X 119388904 119388904 + Missense_Mutation SNP C C T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd X 119388904 119388904 C T SNP ZBTB33 ENST00000326624 human ensembl 70_37 +1 known missense c.1634 p.T545I 1.000 pfscan_Znf_C2H2 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB33 HGNC ZFPL1 7542 genome.wustl.edu 37 11 64854019 64854019 + Missense_Mutation SNP C C T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 11 64854019 64854019 C T SNP ZFPL1 ENST00000294258 human ensembl 70_37 +1 known missense c.347 p.S116F 0.771 NULL NULL - no_errors ZFPL1 HGNC ZKSCAN3 80317 genome.wustl.edu 37 6 28327424 28327424 + Nonsense_Mutation SNP G G T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 6 28327424 28327424 G T SNP ZKSCAN3 ENST00000252211 human ensembl 70_37 +1 known nonsense c.61 p.E21* 0.000 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZKSCAN3 HGNC ZMIZ2 83637 genome.wustl.edu 37 7 44804562 44804562 + Silent SNP C C T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 7 44804562 44804562 C T SNP ZMIZ2 ENST00000309315 human ensembl 70_37 +1 known silent c.1951 p.L651 1.000 pfscan_Znf_MIZ pfam_Znf_MIZ,pfscan_Znf_MIZ - no_errors ZMIZ2 HGNC ZNF225 7768 genome.wustl.edu 37 19 44635874 44635874 + Silent SNP G G A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 19 44635874 44635874 G A SNP ZNF225 ENST00000262894 human ensembl 70_37 +1 known silent c.1107 p.E369 0.977 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 ZNF225 HGNC ZNF385D 79750 genome.wustl.edu 37 3 21465554 21465554 + Silent SNP G G A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 3 21465554 21465554 G A SNP ZNF385D ENST00000281523 human ensembl 70_37 -1 known silent c.855 p.H285 1.000 pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like - no_errors ZNF385D HGNC ZNF526 116115 genome.wustl.edu 37 19 42729234 42729234 + Missense_Mutation SNP G G A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 19 42729234 42729234 G A SNP ZNF526 ENST00000301215 human ensembl 70_37 +1 known missense c.679 p.E227K 0.998 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF526 HGNC ZNF526 116115 genome.wustl.edu 37 19 42729255 42729255 + Missense_Mutation SNP G G A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 19 42729255 42729255 G A SNP ZNF526 ENST00000301215 human ensembl 70_37 +1 known missense c.700 p.E234K 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF526 HGNC ZNF609 23060 genome.wustl.edu 37 15 64966714 64966714 + Nonsense_Mutation SNP C C G TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 15 64966714 64966714 C G SNP ZNF609 ENST00000326648 human ensembl 70_37 +1 known nonsense c.1661 p.S554* 0.073 NULL pfscan_Znf_C2H2 - no_errors ZNF609 HGNC ZNF623 9831 genome.wustl.edu 37 8 144732899 144732899 + Missense_Mutation SNP C C T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 8 144732899 144732899 C T SNP ZNF623 ENST00000501748 human ensembl 70_37 +1 known missense c.857 p.T286I 0.995 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF623 HGNC ZNF665 79788 genome.wustl.edu 37 19 53669311 53669311 + Silent SNP G G A TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 3b423342-bc9a-4c60-9f5e-992e4aa439fa 6d359d66-e4c7-479a-99f7-38829c1b83bd 19 53669311 53669311 G A SNP ZNF665 ENST00000396424 human ensembl 70_37 -1 known silent c.432 p.S144 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF665 HGNC