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 ABCA11P 79963 genome.wustl.edu 37 4 420831 420831 + RNA SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 4 420831 420831 G C SNP ABCA11P ENST00000507854 human ensembl 70_37 -1 known rna NULL NULL 0.308 - - - no_errors ABCA11P HGNC ABCA12 26154 genome.wustl.edu 37 2 215843622 215843622 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 2 215843622 215843622 G A SNP ABCA12 ENST00000272895 human ensembl 70_37 -1 known missense c.4883 p.S1628L 0.998 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA12 HGNC ABCA12 26154 genome.wustl.edu 37 2 215884458 215884458 + Silent SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 2 215884458 215884458 C T SNP ABCA12 ENST00000272895 human ensembl 70_37 -1 known silent c.1350 p.E450 0.003 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA12 HGNC ABCB7 22 genome.wustl.edu 37 X 74282251 74282251 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 X 74282251 74282251 C T SNP ABCB7 ENST00000253577 human ensembl 70_37 -1 known missense c.1850 p.R617K 1.000 pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCB7 HGNC ABCG4 64137 genome.wustl.edu 37 11 119025602 119025602 + Silent SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 11 119025602 119025602 C T SNP ABCG4 ENST00000307417 human ensembl 70_37 +1 known silent c.663 p.V221 1.000 pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_2_trans,pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCG4 HGNC ACAN 176 genome.wustl.edu 37 15 89386861 89386861 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 15 89386861 89386861 G A SNP ACAN ENST00000439576 human ensembl 70_37 +1 known missense c.1033 p.D345N 1.000 pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link - no_errors ACAN HGNC ACP1 52 genome.wustl.edu 37 2 277245 277245 + Missense_Mutation SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 2 277245 277245 G C SNP ACP1 ENST00000272065 human ensembl 70_37 +1 known missense c.418 p.E140Q 1.000 pfam_Ptyr_pPase_SF,superfamily_Ptyr_pPase_SF,smart_Ptyr_pPase_SF,prints_Tyr_Pase_low_mol_wt_mml,prints_Tyr_phospatase/Ars_reductase pfam_Ptyr_pPase_SF,superfamily_Ptyr_pPase_SF,smart_Ptyr_pPase_SF,prints_Tyr_Pase_low_mol_wt_mml,prints_Tyr_phospatase/Ars_reductase - no_errors ACP1 HGNC ACSF2 80221 genome.wustl.edu 37 17 48541643 48541643 + Missense_Mutation SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 17 48541643 48541643 G C SNP ACSF2 ENST00000300441 human ensembl 70_37 +1 known missense c.1203 p.M401I 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSF2 HGNC ACTN2 88 genome.wustl.edu 37 1 236918438 236918438 + Missense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 1 236918438 236918438 C G SNP ACTN2 ENST00000366578 human ensembl 70_37 +1 known missense c.2094 p.D698E 0.999 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors ACTN2 HGNC ACTR8 93973 genome.wustl.edu 37 3 53911378 53911378 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 3 53911378 53911378 G A SNP ACTR8 ENST00000335754 human ensembl 70_37 -1 known missense c.547 p.H183Y 1.000 pfam_Actin-like,smart_Actin-like pfam_Actin-like,smart_Actin-like - no_errors ACTR8 HGNC ADAMTS10 81794 genome.wustl.edu 37 19 8650111 8650111 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 19 8650111 8650111 C T SNP ADAMTS10 ENST00000270328 human ensembl 70_37 -1 known missense c.2947 p.A983T 0.001 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS10 HGNC ADCY1 107 genome.wustl.edu 37 7 45614588 45614588 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 7 45614588 45614588 C T SNP ADCY1 ENST00000297323 human ensembl 70_37 +1 known missense c.446 p.S149F 0.000 NULL pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY1 HGNC ADCY10P1 221442 genome.wustl.edu 37 6 41086700 41086700 + RNA SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 6 41086700 41086700 G A SNP ADCY10P1 ENST00000567255 human ensembl 70_37 +1 known rna NULL NULL 0.974 - - - no_errors ADCY10P1 HGNC ADD1 118 genome.wustl.edu 37 4 2910284 2910284 + Nonsense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 4 2910284 2910284 C T SNP ADD1 ENST00000264758 human ensembl 70_37 +1 known nonsense c.1651 p.Q551* 1.000 NULL pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N - no_errors ADD1 HGNC ADHFE1 137872 genome.wustl.edu 37 8 67357469 67357469 + Missense_Mutation SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 8 67357469 67357469 G C SNP ADHFE1 ENST00000396623 human ensembl 70_37 +1 known missense c.370 p.E124Q 1.000 pfam_ADH_Fe pfam_ADH_Fe - no_errors ADHFE1 HGNC ADRBK1 156 genome.wustl.edu 37 11 67053974 67053974 + Silent SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 11 67053974 67053974 G C SNP ADRBK1 ENST00000526285 human ensembl 70_37 +1 novel silent c.1206 p.V402 1.000 smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Regulat_G_prot_signal,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Regulat_G_prot_signal,pfscan_Prot_kinase_cat_dom,prints_GPCR_kinase - no_errors ADRBK1 HGNC AHDC1 27245 genome.wustl.edu 37 1 27861165 27861165 + RNA SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 1 27861165 27861165 C G SNP AHDC1 ENST00000482400 human ensembl 70_37 -1 known rna NULL NULL 0.755 - - - no_errors AHDC1 HGNC AIF1L 83543 genome.wustl.edu 37 9 133981650 133981650 + Nonsense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 9 133981650 133981650 C T SNP AIF1L ENST00000372309 human ensembl 70_37 +1 known nonsense c.169 p.Q57* 0.000 NULL pfscan_EF_HAND_2 - no_errors AIF1L HGNC AJAP1 55966 genome.wustl.edu 37 1 4832482 4832482 + Missense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 1 4832482 4832482 C G SNP AJAP1 ENST00000378190 human ensembl 70_37 +1 known missense c.1060 p.L354V 1.000 NULL NULL - no_errors AJAP1 HGNC AKAP3 10566 genome.wustl.edu 37 12 4735736 4735736 + Nonsense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 12 4735736 4735736 G A SNP AKAP3 ENST00000228850 human ensembl 70_37 -1 known nonsense c.2332 p.Q778* 0.993 pfam_AKAP_110_C,smart_AKAP_110 pfam_AKAP_110_C,pfam_RII_binding_1,smart_AKAP_110 - no_errors AKAP3 HGNC AKAP3 10566 genome.wustl.edu 37 12 4736184 4736184 + Missense_Mutation SNP C C A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 12 4736184 4736184 C A SNP AKAP3 ENST00000228850 human ensembl 70_37 -1 known missense c.1884 p.L628F 0.000 pfam_AKAP_110_C,smart_AKAP_110 pfam_AKAP_110_C,pfam_RII_binding_1,smart_AKAP_110 - no_errors AKAP3 HGNC AKAP9 10142 genome.wustl.edu 37 7 91726507 91726507 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 7 91726507 91726507 G A SNP AKAP9 ENST00000359028 human ensembl 70_37 +1 known missense c.10246 p.V3416M 1.000 NULL pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB-like - no_errors AKAP9 HGNC AKNA 80709 genome.wustl.edu 37 9 117139085 117139085 + Silent SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 9 117139085 117139085 C T SNP AKNA ENST00000307564 human ensembl 70_37 -1 known silent c.1002 p.Q334 0.092 NULL pfam_TF_AT-hook - no_errors AKNA HGNC AMFR 267 genome.wustl.edu 37 16 56396850 56396850 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 16 56396850 56396850 G A SNP AMFR ENST00000290649 human ensembl 70_37 -1 known missense c.1903 p.R635W 0.977 NULL pfam_CUE,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_CUE,pfscan_CUE,pfscan_Znf_RING - no_errors AMFR HGNC AP2M1 1173 genome.wustl.edu 37 3 183899783 183899783 + Missense_Mutation SNP A A T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 3 183899783 183899783 A T SNP AP2M1 ENST00000292807 human ensembl 70_37 +1 known missense c.911 p.K304M 1.000 pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C,prints_Clathrin_mu - no_errors AP2M1 HGNC AP3B1 8546 genome.wustl.edu 37 5 77406134 77406134 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 5 77406134 77406134 G A SNP AP3B1 ENST00000255194 human ensembl 70_37 -1 known missense c.2294 p.S765L 0.017 pirsf_AP3_beta pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_beta - no_errors AP3B1 HGNC APAF1 317 genome.wustl.edu 37 12 99106099 99106099 + Silent SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 12 99106099 99106099 C T SNP APAF1 ENST00000551964 human ensembl 70_37 +1 known silent c.2844 p.L948 0.995 superfamily_WD40_repeat_dom,pirsf_Apoptotic_pept-activating_1,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_NB-ARC,pfam_CARD,superfamily_WD40_repeat_dom,superfamily_DEATH-like,smart_WD40_repeat,pirsf_Apoptotic_pept-activating_1,pfscan_CARD,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Disease_R,prints_G-protein_beta_WD-40_rep - no_errors APAF1 HGNC ARHGAP39 80728 genome.wustl.edu 37 8 145772651 145772651 + Missense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 8 145772651 145772651 C G SNP ARHGAP39 ENST00000377307 human ensembl 70_37 -1 known missense c.1819 p.E607Q 1.000 NULL pfam_RhoGAP_dom,pfam_MyTH4_dom,superfamily_Rho_GTPase_activation_prot,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_MyTH4_dom,smart_RhoGAP_dom,pfscan_MyTH4_dom,pfscan_WW_Rsp5_WWP,pfscan_RhoGAP_dom - no_errors ARHGAP39 HGNC ARHGAP42 143872 genome.wustl.edu 37 11 100803930 100803930 + Missense_Mutation SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 11 100803930 100803930 G C SNP ARHGAP42 ENST00000298815 human ensembl 70_37 +1 known missense c.641 p.G214A 1.000 NULL pfam_RhoGAP_dom,pfam_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_RhoGAP_dom,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors ARHGAP42 HGNC ARHGEF7 8874 genome.wustl.edu 37 13 111857660 111857660 + Missense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 13 111857660 111857660 C G SNP ARHGEF7 ENST00000375741 human ensembl 70_37 +1 known missense c.340 p.Q114E 1.000 superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_DH-domain,pfam_SH3_2,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_CH-domain,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain - no_errors ARHGEF7 HGNC ARL5A 26225 genome.wustl.edu 37 2 152684679 152684679 + Silent SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 2 152684679 152684679 G C SNP ARL5A ENST00000295087 human ensembl 70_37 -1 known silent c.12 p.L4 1.000 smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,pfam_MIRO-like,pfam_Gtr1_RagA,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors ARL5A HGNC ARVCF 421 genome.wustl.edu 37 22 19960823 19960823 + Missense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 22 19960823 19960823 C G SNP ARVCF ENST00000263207 human ensembl 70_37 -1 known missense c.2257 p.E753Q 0.994 superfamily_ARM-type_fold pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors ARVCF HGNC ASCC3 10973 genome.wustl.edu 37 6 101095188 101095188 + Nonsense_Mutation SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 6 101095188 101095188 G C SNP ASCC3 ENST00000369162 human ensembl 70_37 -1 known nonsense c.3392 p.S1131* 1.000 pfam_Sec63-dom,smart_Sec63-dom pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_AAA+_ATPase,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ASCC3 HGNC ASXL1 171023 genome.wustl.edu 37 20 31021697 31021697 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 20 31021697 31021697 G A SNP ASXL1 ENST00000375687 human ensembl 70_37 +1 known missense c.1696 p.E566K 1.000 NULL NULL - no_errors ASXL1 HGNC ATAD2B 54454 genome.wustl.edu 37 2 23988385 23988385 + Missense_Mutation SNP T T A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 2 23988385 23988385 T A SNP ATAD2B ENST00000238789 human ensembl 70_37 -1 known missense c.3247 p.I1083L 1.000 NULL pfam_ATPase_AAA_core,pfam_Bromodomain,pfam_IstB_ATP-bd,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors ATAD2B HGNC ATP11B 23200 genome.wustl.edu 37 3 182587045 182587045 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 3 182587045 182587045 G A SNP ATP11B ENST00000323116 human ensembl 70_37 +1 known missense c.1792 p.E598K 1.000 superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,tigrfam_ATPase_P-typ_Plipid-transl pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP11B HGNC ATP2B2 491 genome.wustl.edu 37 3 10387122 10387122 + Silent SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 3 10387122 10387122 G A SNP ATP2B2 ENST00000352432 human ensembl 70_37 -1 known silent c.2649 p.L883 0.843 tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP2B2 HGNC AWAT2 158835 genome.wustl.edu 37 X 69269699 69269699 + Silent SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 X 69269699 69269699 G A SNP AWAT2 ENST00000276101 human ensembl 70_37 -1 known silent c.84 p.I28 0.012 NULL pfam_DAGAT - no_errors AWAT2 HGNC BAI3 577 genome.wustl.edu 37 6 69758162 69758162 + Nonsense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 6 69758162 69758162 G A SNP BAI3 ENST00000370598 human ensembl 70_37 +1 known nonsense c.2193 p.W731* 1.000 pfam_DUF3497,prints_GPCR_2_brain-spec_angio_inhib 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 BAIAP2-AS1 440465 genome.wustl.edu 37 17 79004699 79004699 + RNA SNP G G T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 17 79004699 79004699 G T SNP BAIAP2-AS1 ENST00000542745 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors BAIAP2-AS1 HGNC BAZ2B 29994 genome.wustl.edu 37 2 160318979 160318979 + RNA SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 2 160318979 160318979 G C SNP BAZ2B ENST00000483316 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors BAZ2B HGNC BBS7 55212 genome.wustl.edu 37 4 122780308 122780308 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 4 122780308 122780308 G A SNP BBS7 ENST00000264499 human ensembl 70_37 -1 known missense c.367 p.L123F 1.000 superfamily_WD40_repeat_dom,pirsf_Bardet-Biedl_syndrome_7_prot superfamily_WD40_repeat_dom,pirsf_Bardet-Biedl_syndrome_7_prot - no_errors BBS7 HGNC BCAN 63827 genome.wustl.edu 37 1 156615935 156615935 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 1 156615935 156615935 C T SNP BCAN ENST00000329117 human ensembl 70_37 +1 known missense c.89 p.S30L 1.000 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link,prints_AntifreezeII - no_errors BCAN HGNC BIRC6 57448 genome.wustl.edu 37 2 32716581 32716581 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 2 32716581 32716581 C T SNP BIRC6 ENST00000421745 human ensembl 70_37 +1 known missense c.8296 p.L2766F 1.000 NULL pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2 - no_errors BIRC6 HGNC BLOC1S6 26258 genome.wustl.edu 37 15 45879568 45879568 + RNA SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 15 45879568 45879568 G A SNP BLOC1S6 ENST00000567740 human ensembl 70_37 +1 putative rna NULL NULL 0.000 - - - no_errors BLOC1S6 HGNC BMI1 648 genome.wustl.edu 37 10 22618360 22618360 + Silent SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 10 22618360 22618360 C T SNP BMI1 ENST00000376663 human ensembl 70_37 +1 known silent c.870 p.S290 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors BMI1 HGNC BRE 9577 genome.wustl.edu 37 2 28117479 28117479 + Missense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 2 28117479 28117479 C G SNP BRE ENST00000344773 human ensembl 70_37 +1 known missense c.56 p.S19C 1.000 pfam_Brain/reproduct-express_prot pfam_Brain/reproduct-express_prot - no_errors BRE HGNC BZW1 9689 genome.wustl.edu 37 2 201686900 201686900 + Nonstop_Mutation SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 2 201686900 201686900 G C SNP BZW1 ENST00000409600 human ensembl 70_37 +1 known nonstop c.1259 p.*420S 1.000 NULL pfam_W2_domain,superfamily_ARM-type_fold,smart_W2_domain - no_errors BZW1 HGNC ADIRF 10974 genome.wustl.edu 37 10 88729991 88729991 + Silent SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 10 88729991 88729991 G A SNP C10orf116 ENST00000372013 human ensembl 70_37 +1 known silent c.96 p.V32 0.997 NULL NULL - no_errors C10orf116 HGNC C12orf55 144535 genome.wustl.edu 37 12 97084972 97084972 + Missense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 12 97084972 97084972 C G SNP C12orf55 ENST00000342887 human ensembl 70_37 +1 known missense c.1423 p.Q475E 0.918 NULL NULL - no_errors C12orf55 HGNC C16orf89 146556 genome.wustl.edu 37 16 5115922 5115922 + Silent SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 16 5115922 5115922 C T SNP C16orf89 ENST00000350219 human ensembl 70_37 -1 known silent c.102 p.E34 0.000 NULL NULL - no_errors C16orf89 HGNC C19orf45 374877 genome.wustl.edu 37 19 7570449 7570449 + Silent SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 19 7570449 7570449 G A SNP C19orf45 ENST00000361664 human ensembl 70_37 +1 known silent c.942 p.L314 1.000 NULL NULL - no_errors C19orf45 HGNC C1orf116 79098 genome.wustl.edu 37 1 207196117 207196117 + Missense_Mutation SNP C C A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 1 207196117 207196117 C A SNP C1orf116 ENST00000359470 human ensembl 70_37 -1 known missense c.992 p.G331V 0.003 NULL NULL - no_errors C1orf116 HGNC C1orf216 127703 genome.wustl.edu 37 1 36181736 36181736 + Missense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 1 36181736 36181736 C G SNP C1orf216 ENST00000270815 human ensembl 70_37 -1 known missense c.187 p.E63Q 0.000 NULL NULL - no_errors C1orf216 HGNC C1orf61 10485 genome.wustl.edu 37 1 156382478 156382478 + RNA SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 1 156382478 156382478 C T SNP C1orf61 ENST00000465570 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors C1orf61 HGNC C3orf27 23434 genome.wustl.edu 37 3 128292452 128292452 + Silent SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 3 128292452 128292452 G A SNP C3orf27 ENST00000356020 human ensembl 70_37 -1 known silent c.121 p.L41 0.000 NULL NULL - no_errors C3orf27 HGNC C6 729 genome.wustl.edu 37 5 41149429 41149429 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 5 41149429 41149429 C T SNP C6 ENST00000263413 human ensembl 70_37 -1 known missense c.2537 p.G846D 0.988 NULL pfam_MACPF,pfam_Sushi_SCR_CCP,pfam_Thrombospondin_1_rpt,pfam_LDrepeatLR_classA_rpt,pfam_Kazal-type_dom,superfamily_Complement_control_module,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,smart_Sushi_SCR_CCP,smart_FacI_MAC,pfscan_LDrepeatLR_classA_rpt,pfscan_Sushi_SCR_CCP,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin - no_errors C6 HGNC CACNA1A 773 genome.wustl.edu 37 19 13409479 13409479 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 19 13409479 13409479 C T SNP CACNA1A ENST00000360228 human ensembl 70_37 -1 known missense c.2968 p.E990K 0.997 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su - no_errors CACNA1A HGNC CACNA1H 8912 genome.wustl.edu 37 16 1251944 1251944 + Silent SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 16 1251944 1251944 G A SNP CACNA1H ENST00000348261 human ensembl 70_37 +1 known silent c.1494 p.Q498 1.000 NULL pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_PKD_2 - no_errors CACNA1H HGNC CACNA2D3 55799 genome.wustl.edu 37 3 55107697 55107697 + RNA SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 3 55107697 55107697 G A SNP CACNA2D3 ENST00000478261 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors CACNA2D3 HGNC CACNB1 782 genome.wustl.edu 37 17 37343127 37343127 + Missense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 17 37343127 37343127 C G SNP CACNB1 ENST00000394303 human ensembl 70_37 -1 known missense c.470 p.G157A 1.000 superfamily_SH3_domain,pfscan_SH3_domain pfam_Guanylate_kin,pfam_VDCC_L_bsu,superfamily_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_SH3_domain,prints_VDCC_L_bsu,prints_VDCC_L_b1su - no_errors CACNB1 HGNC CACNB4 785 genome.wustl.edu 37 2 152711885 152711885 + Missense_Mutation SNP T T G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 2 152711885 152711885 T G SNP CACNB4 ENST00000339254 human ensembl 70_37 -1 known missense c.876 p.E292D 1.000 pfam_Guanylate_kin,smart_Guanylate_kin/L-typ_Ca_channel,prints_VDCC_L_bsu pfam_Guanylate_kin,pfam_VDCC_L_bsu,superfamily_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_SH3_domain,prints_VDCC_L_bsu - no_errors CACNB4 HGNC CALCOCO2 10241 genome.wustl.edu 37 17 46928958 46928958 + Nonsense_Mutation SNP G G T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 17 46928958 46928958 G T SNP CALCOCO2 ENST00000258947 human ensembl 70_37 +1 known nonsense c.670 p.E224* 1.000 pfam_CoCoA pfam_CoCoA - no_errors CALCOCO2 HGNC CAPN1 823 genome.wustl.edu 37 11 64950427 64950427 + Nonsense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 11 64950427 64950427 G A SNP CAPN1 ENST00000279247 human ensembl 70_37 +1 known nonsense c.255 p.W85* 1.000 pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN1 HGNC CAPRIN1 4076 genome.wustl.edu 37 11 34121474 34121474 + RNA SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 11 34121474 34121474 C T SNP CAPRIN1 ENST00000533657 human ensembl 70_37 +1 known rna NULL NULL 0.956 - - - no_errors CAPRIN1 HGNC CARS 833 genome.wustl.edu 37 11 3023800 3023800 + Missense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 11 3023800 3023800 C G SNP CARS ENST00000380525 human ensembl 70_37 -1 known missense c.2248 p.E750Q 1.000 NULL pfam_Cys-tRNA/MSH_ligase,pfam_Methionyl/Leucyl_tRNA_Synth,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Glutathione-S-Trfase_C-like,prints_Cys-tRNA/MSH_ligase,tigrfam_Cys-tRNA-ligase - no_errors CARS HGNC CASC3 22794 genome.wustl.edu 37 17 38324110 38324110 + Silent SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 17 38324110 38324110 C T SNP CASC3 ENST00000264645 human ensembl 70_37 +1 known silent c.1659 p.F553 1.000 NULL pfam_Btz_dom - no_errors CASC3 HGNC CBR3 874 genome.wustl.edu 37 21 37507541 37507541 + Missense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 21 37507541 37507541 C G SNP CBR3 ENST00000290354 human ensembl 70_37 +1 known missense c.51 p.I17M 1.000 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors CBR3 HGNC CCDC106 29903 genome.wustl.edu 37 19 56160930 56160930 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 19 56160930 56160930 C T SNP CCDC106 ENST00000308964 human ensembl 70_37 +1 known missense c.293 p.S98F 1.000 NULL NULL - no_errors CCDC106 HGNC CCDC129 223075 genome.wustl.edu 37 7 31683552 31683552 + Silent SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 7 31683552 31683552 G A SNP CCDC129 ENST00000451887 human ensembl 70_37 +1 known silent c.2646 p.V882 0.996 NULL NULL - no_errors CCDC129 HGNC CCDC38 120935 genome.wustl.edu 37 12 96292426 96292426 + Missense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 12 96292426 96292426 C G SNP CCDC38 ENST00000344280 human ensembl 70_37 -1 known missense c.453 p.E151D 0.985 NULL NULL - no_errors CCDC38 HGNC CCDC59 29080 genome.wustl.edu 37 12 82752008 82752008 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 12 82752008 82752008 G A SNP CCDC59 ENST00000256151 human ensembl 70_37 -1 known missense c.148 p.R50C 0.999 prints_BR22 pfam_rRNA_processing,prints_BR22 - no_errors CCDC59 HGNC CCR8 1237 genome.wustl.edu 37 3 39374093 39374093 + Missense_Mutation SNP C C A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 3 39374093 39374093 C A SNP CCR8 ENST00000326306 human ensembl 70_37 +1 known missense c.271 p.Q91K 0.958 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CCR8,prints_Chemokine_CXCR4,prints_Brdyknn_rcpt - no_errors CCR8 HGNC CD300C 10871 genome.wustl.edu 37 17 72541887 72541887 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 17 72541887 72541887 G A SNP CD300C ENST00000330793 human ensembl 70_37 -1 known missense c.35 p.S12L 0.004 NULL pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like - no_errors CD300C HGNC CDH24 64403 genome.wustl.edu 37 14 23523479 23523479 + Silent SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 14 23523479 23523479 G A SNP CDH24 ENST00000267383 human ensembl 70_37 -1 known silent c.843 p.L281 0.077 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH24 HGNC CDK14 5218 genome.wustl.edu 37 7 90747472 90747472 + Missense_Mutation SNP A A G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 7 90747472 90747472 A G SNP CDK14 ENST00000380050 human ensembl 70_37 +1 known missense c.1387 p.S463G 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 CDK14 HGNC CDK2AP2 10263 genome.wustl.edu 37 11 67275414 67275414 + Missense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 11 67275414 67275414 C G SNP CDK2AP2 ENST00000531178 human ensembl 70_37 -1 known missense c.140 p.R47T 1.000 NULL NULL - no_errors CDK2AP2 HGNC CDK5RAP2 55755 genome.wustl.edu 37 9 123202153 123202153 + Silent SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 9 123202153 123202153 C T SNP CDK5RAP2 ENST00000349780 human ensembl 70_37 -1 known silent c.3246 p.L1082 0.305 NULL pfam_Spindle_assoc - no_errors CDK5RAP2 HGNC CEACAM20 125931 genome.wustl.edu 37 19 45029244 45029244 + RNA SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 19 45029244 45029244 G A SNP CEACAM20 ENST00000316962 human ensembl 70_37 -1 known rna NULL NULL 0.131 - - - no_errors CEACAM20 HGNC CECR2 27443 genome.wustl.edu 37 22 18022482 18022482 + Missense_Mutation SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 22 18022482 18022482 G C SNP CECR2 ENST00000400573 human ensembl 70_37 +1 novel missense c.2584 p.E862Q 1.000 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors CECR2 HGNC CEP112 201134 genome.wustl.edu 37 17 64001810 64001810 + Missense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 17 64001810 64001810 C G SNP CEP112 ENST00000392769 human ensembl 70_37 -1 known missense c.1734 p.L578F 1.000 NULL superfamily_t-SNARE - no_errors CEP112 HGNC CILP2 148113 genome.wustl.edu 37 19 19653318 19653318 + Missense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 19 19653318 19653318 C G SNP CILP2 ENST00000291495 human ensembl 70_37 +1 known missense c.727 p.H243D 0.052 superfamily_CarboxyPept-like_regulatory pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,superfamily_Thrombospondin_1_rpt,superfamily_CarboxyPept-like_regulatory,superfamily_Carb-bd-like_fold,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like - no_errors CILP2 HGNC CLCC1 23155 genome.wustl.edu 37 1 109492486 109492486 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 1 109492486 109492486 C T SNP CLCC1 ENST00000356970 human ensembl 70_37 -1 known missense c.187 p.E63K 0.880 pfam_Chloride_chnl_CLIC-like pfam_Chloride_chnl_CLIC-like - no_errors CLCC1 HGNC CLEC10A 10462 genome.wustl.edu 37 17 6980275 6980275 + Silent SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 17 6980275 6980275 C T SNP CLEC10A ENST00000254868 human ensembl 70_37 -1 known silent c.216 p.L72 0.381 pfam_Lectin_N pfam_Lectin_N,pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin - no_errors CLEC10A HGNC CLEC14A 161198 genome.wustl.edu 37 14 38723950 38723950 + Silent SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 14 38723950 38723950 G A SNP CLEC14A ENST00000342213 human ensembl 70_37 -1 known silent c.1278 p.H426 1.000 NULL superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CLEC14A HGNC CLMN 79789 genome.wustl.edu 37 14 95669981 95669981 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 14 95669981 95669981 C T SNP CLMN ENST00000298912 human ensembl 70_37 -1 known missense c.1705 p.D569N 0.012 NULL pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors CLMN HGNC CLTCL1 8218 genome.wustl.edu 37 22 19168280 19168280 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 22 19168280 19168280 C T SNP CLTCL1 ENST00000263200 human ensembl 70_37 -1 known missense c.4867 p.E1623K 0.914 pirsf_Clathrin_heavy_chain pfam_Clathrin_H-chain/VPS_repeat,pfam_Clathrin_H-chain_propeller_rpt,pfam_Clathrin_H-chain_linker_core,superfamily_Clathrin_H-chain_propeller_N,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain - no_errors CLTCL1 HGNC CLVS2 134829 genome.wustl.edu 37 6 123377007 123377007 + Silent SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 6 123377007 123377007 C T SNP CLVS2 ENST00000275162 human ensembl 70_37 +1 known silent c.732 p.I244 0.948 pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran - no_errors CLVS2 HGNC COL18A1 80781 genome.wustl.edu 37 21 46897681 46897681 + Silent SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 21 46897681 46897681 G A SNP COL18A1 ENST00000359759 human ensembl 70_37 +1 known silent c.2268 p.Q756 0.936 NULL pfam_Collagenase_NC10/endostatin,pfam_DUF959_COL18_N,pfam_Collagen,pfam_Frizzled_dom,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,superfamily_Frizzled_dom,smart_Frizzled_dom,smart_Laminin_G,pfscan_Frizzled_dom - no_errors COL18A1 HGNC COL2A1 1280 genome.wustl.edu 37 12 48380662 48380662 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 12 48380662 48380662 C T SNP COL2A1 ENST00000380518 human ensembl 70_37 -1 known missense c.1375 p.G459S 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL2A1 HGNC COL4A6 1288 genome.wustl.edu 37 X 107412840 107412840 + Silent SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 X 107412840 107412840 G A SNP COL4A6 ENST00000372216 human ensembl 70_37 -1 known silent c.3579 p.I1193 0.073 NULL pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A6 HGNC COL7A1 1294 genome.wustl.edu 37 3 48623864 48623864 + Missense_Mutation SNP G G T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 3 48623864 48623864 G T SNP COL7A1 ENST00000328333 human ensembl 70_37 -1 known missense c.3451 p.P1151T 0.346 pfam_VWF_A,pfscan_VWF_A pfam_Collagen,pfam_Fibronectin_type3,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL7A1 HGNC COL9A3 1299 genome.wustl.edu 37 20 61467602 61467602 + Nonsense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 20 61467602 61467602 C T SNP COL9A3 ENST00000343916 human ensembl 70_37 +1 known nonsense c.1465 p.Q489* 0.409 pfam_Collagen pfam_Collagen - no_errors COL9A3 HGNC COPS5 10987 genome.wustl.edu 37 8 67974138 67974138 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 8 67974138 67974138 C T SNP COPS5 ENST00000357849 human ensembl 70_37 -1 known missense c.94 p.D32N 1.000 NULL pfam_JAB1_Mov34_MPN_PAD1,smart_JAB1_Mov34_MPN_PAD1 - no_errors COPS5 HGNC COPS6 10980 genome.wustl.edu 37 7 99689397 99689397 + Silent SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 7 99689397 99689397 C T SNP COPS6 ENST00000303904 human ensembl 70_37 +1 known silent c.969 p.R323 1.000 NULL pfam_JAB1_Mov34_MPN_PAD1,smart_JAB1_Mov34_MPN_PAD1 - no_errors COPS6 HGNC CPB2 1361 genome.wustl.edu 37 13 46627829 46627829 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 13 46627829 46627829 C T SNP CPB2 ENST00000181383 human ensembl 70_37 -1 known missense c.1192 p.E398K 0.024 pfam_Peptidase_M14,smart_Peptidase_M14 pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPB2 HGNC CPEB3 22849 genome.wustl.edu 37 10 93999172 93999172 + Silent SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 10 93999172 93999172 G C SNP CPEB3 ENST00000265997 human ensembl 70_37 -1 known silent c.936 p.L312 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CPEB3 HGNC CREB5 9586 genome.wustl.edu 37 7 28848933 28848933 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 7 28848933 28848933 C T SNP CREB5 ENST00000357727 human ensembl 70_37 +1 known missense c.1156 p.R386W 1.000 pfam_bZIP,smart_bZIP,pirsf_TF_cAMP-dep,pfscan_bZIP pfam_bZIP,smart_bZIP,pirsf_TF_cAMP-dep,pfscan_Znf_C2H2,pfscan_bZIP - no_errors CREB5 HGNC CREBBP 1387 genome.wustl.edu 37 16 3778628 3778628 + Silent SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 16 3778628 3778628 C T SNP CREBBP ENST00000262367 human ensembl 70_37 -1 known silent c.6420 p.Q2140 1.000 NULL pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors CREBBP HGNC CRLF2 64109 genome.wustl.edu 37 X 1331584 1331584 + RNA SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 X 1331584 1331584 C G SNP CRLF2 ENST00000467626 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors CRLF2 HGNC CRYGN 155051 genome.wustl.edu 37 7 151135048 151135048 + Missense_Mutation SNP G G T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 7 151135048 151135048 G T SNP CRYGN ENST00000491928 human ensembl 70_37 -1 known missense c.304 p.P102T 0.000 NULL pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYGN HGNC CSE1L 1434 genome.wustl.edu 37 20 47707558 47707558 + Silent SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 20 47707558 47707558 G A SNP CSE1L ENST00000262982 human ensembl 70_37 +1 known silent c.2364 p.K788 1.000 pfam_CAS_CSE1_C,superfamily_ARM-type_fold pfam_CAS_CSE1_C,pfam_Exportin/Importin_Cse1-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors CSE1L HGNC CSRP2 1466 genome.wustl.edu 37 12 77259933 77259933 + Silent SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 12 77259933 77259933 G A SNP CSRP2 ENST00000311083 human ensembl 70_37 -1 known silent c.108 p.L36 0.981 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors CSRP2 HGNC CTAGE4 100128553 genome.wustl.edu 37 7 143882864 143882864 + Silent SNP T T C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 7 143882864 143882864 T C SNP CTAGE4 ENST00000486333 human ensembl 70_37 +1 known silent c.2268 p.Y756 0.231 NULL superfamily_tRNA-bd_arm - no_errors CTAGE4 HGNC CXorf30 645090 genome.wustl.edu 37 X 36324926 36324926 + Missense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 X 36324926 36324926 C G SNP CXorf30 ENST00000378657 human ensembl 70_37 +1 known missense c.460 p.L154V 0.002 NULL NULL - no_errors CXorf30 HGNC CYP11B2 1585 genome.wustl.edu 37 8 143994795 143994795 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 8 143994795 143994795 C T SNP CYP11B2 ENST00000323110 human ensembl 70_37 -1 known missense c.1027 p.E343K 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,prints_Cyt_P450_B - no_errors CYP11B2 HGNC CYP11B2 1585 genome.wustl.edu 37 8 143999174 143999174 + Missense_Mutation SNP G G T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 8 143999174 143999174 G T SNP CYP11B2 ENST00000323110 human ensembl 70_37 -1 known missense c.83 p.A28D 0.593 NULL pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_mitochondrial,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B - no_errors CYP11B2 HGNC DAB2 1601 genome.wustl.edu 37 5 39382903 39382903 + Missense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 5 39382903 39382903 C G SNP DAB2 ENST00000320816 human ensembl 70_37 -1 known missense c.1158 p.Q386H 1.000 NULL pfam_PTyr_interaction_dom,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom - no_errors DAB2 HGNC DAPK2 23604 genome.wustl.edu 37 15 64215050 64215050 + Missense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 15 64215050 64215050 C G SNP DAPK2 ENST00000558069 human ensembl 70_37 -1 putative missense c.1351 p.E451Q 0.999 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors DAPK2 HGNC DDX41 51428 genome.wustl.edu 37 5 176942215 176942215 + Missense_Mutation SNP G G T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 5 176942215 176942215 G T SNP DDX41 ENST00000507955 human ensembl 70_37 -1 known missense c.616 p.P206T 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_RNA_helicase_DEAD_Q_motif pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_Znf_CCHC,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX41 HGNC DIAPH3 81624 genome.wustl.edu 37 13 60453398 60453398 + Nonsense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 13 60453398 60453398 G A SNP DIAPH3 ENST00000400324 human ensembl 70_37 -1 known nonsense c.2572 p.Q858* 1.000 pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,pfam_Drf_DAD,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg - no_errors DIAPH3 HGNC DIAPH3 81624 genome.wustl.edu 37 13 60453560 60453560 + Missense_Mutation SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 13 60453560 60453560 G C SNP DIAPH3 ENST00000400324 human ensembl 70_37 -1 known missense c.2410 p.L804V 1.000 pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,pfam_Drf_DAD,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg - no_errors DIAPH3 HGNC DKKL1 27120 genome.wustl.edu 37 19 49869116 49869116 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 19 49869116 49869116 G A SNP DKKL1 ENST00000221498 human ensembl 70_37 +1 known missense c.391 p.E131K 0.011 NULL NULL - no_errors DKKL1 HGNC DNA2 1763 genome.wustl.edu 37 10 70225560 70225560 + Missense_Mutation SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 10 70225560 70225560 G C SNP DNA2 ENST00000399180 human ensembl 70_37 -1 known missense c.709 p.P237A 0.018 pfam_DNA_replication_fac_Dna2_N pfam_DNA_replication_fac_Dna2_N - no_errors DNA2 HGNC DNAH3 55567 genome.wustl.edu 37 16 21110003 21110003 + Missense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 16 21110003 21110003 C G SNP DNAH3 ENST00000261383 human ensembl 70_37 -1 known missense c.2454 p.M818I 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 DNAH6 1768 genome.wustl.edu 37 2 84912464 84912464 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 2 84912464 84912464 G A SNP DNAH6 ENST00000237449 human ensembl 70_37 +1 known missense c.6931 p.D2311N 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH6 HGNC DNAH6 1768 genome.wustl.edu 37 2 84924865 84924865 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 2 84924865 84924865 G A SNP DNAH6 ENST00000398278 human ensembl 70_37 +1 known missense c.7544 p.R2515K 0.000 NULL pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH6 HGNC DNAJB14 79982 genome.wustl.edu 37 4 100826837 100826837 + Silent SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 4 100826837 100826837 C T SNP DNAJB14 ENST00000442697 human ensembl 70_37 -1 known silent c.759 p.L253 1.000 NULL pfam_DUF1977_DnaJ-like,pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJB14 HGNC DNAJC10 54431 genome.wustl.edu 37 2 183619808 183619808 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 2 183619808 183619808 G A SNP DNAJC10 ENST00000264065 human ensembl 70_37 +1 known missense c.1630 p.E544K 1.000 pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,pirsf_DnaJ_homolog_subfam-C pfam_Thioredoxin_domain,pfam_DnaJ_N,superfamily_Thioredoxin-like_fold,superfamily_DnaJ_N,smart_DnaJ_N,pirsf_DnaJ_homolog_subfam-C,pfscan_DnaJ_N,prints_Hsp_DnaJ,prints_Thioredoxin - no_errors DNAJC10 HGNC DOPEY1 23033 genome.wustl.edu 37 6 83849973 83849973 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 6 83849973 83849973 G A SNP DOPEY1 ENST00000349129 human ensembl 70_37 +1 known missense c.5266 p.E1756K 1.000 superfamily_ARM-type_fold pfam_Dopey_N,superfamily_ARM-type_fold - no_errors DOPEY1 HGNC DPP7 29952 genome.wustl.edu 37 9 140006564 140006564 + Silent SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 9 140006564 140006564 C T SNP DPP7 ENST00000371579 human ensembl 70_37 -1 known silent c.1050 p.Q350 1.000 pfam_Peptidase_S28 pfam_Peptidase_S28,pfam_AB_hydrolase_1 - no_errors DPP7 HGNC DST 667 genome.wustl.edu 37 6 56458793 56458793 + Silent SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 6 56458793 56458793 G A SNP DST ENST00000370754 human ensembl 70_37 -1 known silent c.12301 p.L4101 0.996 superfamily_ABC_transptrTM_dom_typ1 pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors DST HGNC DYNC1H1 1778 genome.wustl.edu 37 14 102473425 102473425 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 14 102473425 102473425 G A SNP DYNC1H1 ENST00000360184 human ensembl 70_37 +1 known missense c.5797 p.D1933N 1.000 smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase - no_errors DYNC1H1 HGNC DYNC1I2 1781 genome.wustl.edu 37 2 172586253 172586253 + Missense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 2 172586253 172586253 C G SNP DYNC1I2 ENST00000397119 human ensembl 70_37 +1 known missense c.1426 p.Q476E 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_Dynein_IC_1/2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DYNC1I2 HGNC DZIP3 9666 genome.wustl.edu 37 3 108407541 108407541 + Silent SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 3 108407541 108407541 C T SNP DZIP3 ENST00000361582 human ensembl 70_37 +1 known silent c.3372 p.L1124 0.227 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors DZIP3 HGNC E2F8 79733 genome.wustl.edu 37 11 19247095 19247095 + Missense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 11 19247095 19247095 C G SNP E2F8 ENST00000250024 human ensembl 70_37 -1 known missense c.2094 p.L698F 1.000 NULL pfam_E2F_TDP - no_errors E2F8 HGNC EEF2 1938 genome.wustl.edu 37 19 3979965 3979965 + Silent SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 19 3979965 3979965 C T SNP EEF2 ENST00000309311 human ensembl 70_37 -1 known silent c.1446 p.T482 0.003 pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_init/rib_B-barrel pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFG/EF2_IV,pfam_Transl_elong_EFG/EF2_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_elong_init/rib_B-barrel,superfamily_Elongation_fac_G/III/V,smart_Transl_elong_EFG/EF2_IV,smart_Transl_elong_EFG/EF2_C,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom - no_errors EEF2 HGNC EFHC2 80258 genome.wustl.edu 37 X 44091896 44091896 + Missense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 X 44091896 44091896 C G SNP EFHC2 ENST00000333807 human ensembl 70_37 -1 known missense c.1451 p.R484T 1.000 pfam_DUF1126,smart_Uncharacterised_DM10 pfam_DUF1126,smart_Uncharacterised_DM10,pfscan_EF_HAND_2 - no_errors EFHC2 HGNC EIF2AK2 5610 genome.wustl.edu 37 2 37365709 37365709 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 2 37365709 37365709 G A SNP EIF2AK2 ENST00000233057 human ensembl 70_37 -1 known missense c.536 p.S179F 0.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ds-RNA-bd,superfamily_Kinase-like_dom,smart_Ds-RNA-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ds-RNA-bd,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EIF2AK2 HGNC AGO3 192669 genome.wustl.edu 37 1 36499858 36499858 + Nonsense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 1 36499858 36499858 C T SNP EIF2C3 ENST00000373191 human ensembl 70_37 +1 known nonsense c.1675 p.Q559* 1.000 pfam_Piwi,superfamily_RNaseH-like_dom,smart_Piwi,pfscan_Piwi pfam_Piwi,pfam_PAZ,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi - no_errors EIF2C3 HGNC EIF3A 8661 genome.wustl.edu 37 10 120829034 120829034 + Missense_Mutation SNP G G T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 10 120829034 120829034 G T SNP EIF3A ENST00000369144 human ensembl 70_37 -1 known missense c.874 p.H292N 1.000 NULL pfam_PCI_dom,smart_PCI_dom - no_errors EIF3A HGNC ELF2 1998 genome.wustl.edu 37 4 139980712 139980712 + Nonsense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 4 139980712 139980712 G A SNP ELF2 ENST00000379550 human ensembl 70_37 -1 known nonsense c.1207 p.Q403* 1.000 NULL pfam_TF_Elf_N,pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets - no_errors ELF2 HGNC EMC3 55831 genome.wustl.edu 37 3 10012302 10012302 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 3 10012302 10012302 G A SNP EMC3 ENST00000245046 human ensembl 70_37 -1 known missense c.538 p.R180W 0.998 pfam_DUF106_TM,pirsf_UCP010045_TM_euk pfam_DUF106_TM,pirsf_UCP010045_TM_euk - no_errors EMC3 HGNC EMC9 51016 genome.wustl.edu 37 14 24608883 24608883 + RNA SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 14 24608883 24608883 G A SNP EMC9 ENST00000558200 human ensembl 70_37 -1 known rna NULL NULL 0.030 - - - no_errors EMC9 HGNC EML3 256364 genome.wustl.edu 37 11 62371633 62371633 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 11 62371633 62371633 C T SNP EML3 ENST00000529309 human ensembl 70_37 -1 known missense c.2023 p.D675N 0.023 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_HELP,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML3 HGNC ENO2 2026 genome.wustl.edu 37 12 7031194 7031194 + RNA SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 12 7031194 7031194 G C SNP ENO2 ENST00000534977 human ensembl 70_37 +1 putative rna NULL NULL 0.013 - - - no_errors ENO2 HGNC ENSG00000205293 0 genome.wustl.edu 37 8 58893474 58893474 + RNA SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 8 58893474 58893474 C G SNP ENSG00000205293 ENST00000522992 human ensembl 70_37 +1 known rna NULL NULL 0.007 - - - no_errors RP11-1112C15.1 Clone_based_vega_gene ENSG00000212857 0 genome.wustl.edu 37 GL000212.1 65087 65087 + Missense_Mutation SNP G G T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 GL000212.1 65087 65087 G T SNP ENSG00000212857 ENST00000391545 human ensembl 70_37 +1 known missense c.836 p.R279M NULL NULL NULL - no_errors AL356585.1 Clone_based_ensembl_gene ENSG00000213793 0 genome.wustl.edu 37 19 53421114 53421114 + RNA SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 19 53421114 53421114 G C SNP ENSG00000213793 ENST00000454258 human ensembl 70_37 -1 known rna NULL NULL 0.080 - - - no_errors CTD-2331H12.6 Clone_based_vega_gene ENSG00000221617 0 genome.wustl.edu 37 12 93491070 93491070 + RNA SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 12 93491070 93491070 G A SNP ENSG00000221617 ENST00000408690 human ensembl 70_37 +1 novel rna NULL NULL 0.009 - - - no_errors AC138123.1 Clone_based_ensembl_gene ENSG00000224066 0 genome.wustl.edu 37 1 32671248 32671248 + RNA SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 1 32671248 32671248 C T SNP ENSG00000224066 ENST00000421616 human ensembl 70_37 -1 known rna NULL NULL 0.856 - - - no_errors RP4-622L5.7 Clone_based_vega_gene ENSG00000238261 0 genome.wustl.edu 37 1 143403499 143403499 + RNA SNP A A C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 1 143403499 143403499 A C SNP ENSG00000238261 ENST00000433980 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors BX004987.5 Clone_based_vega_gene ENSG00000243155 0 genome.wustl.edu 37 1 180945579 180945579 + RNA SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 1 180945579 180945579 G A SNP ENSG00000243155 ENST00000358073 human ensembl 70_37 -1 known rna NULL NULL 0.068 - - - no_errors RP11-46A10.5 Clone_based_vega_gene ENSG00000248666 0 genome.wustl.edu 37 9 130455518 130455518 + RNA SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 9 130455518 130455518 G A SNP ENSG00000248666 ENST00000335223 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-56D16.2 Clone_based_vega_gene ENSG00000259407 0 genome.wustl.edu 37 15 86287919 86287919 + RNA SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 15 86287919 86287919 C T SNP ENSG00000259407 ENST00000558375 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-158M2.3 Clone_based_vega_gene ENSG00000259407 0 genome.wustl.edu 37 15 86287921 86287921 + RNA SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 15 86287921 86287921 C T SNP ENSG00000259407 ENST00000558375 human ensembl 70_37 -1 known rna NULL NULL 0.006 - - - no_errors RP11-158M2.3 Clone_based_vega_gene ENSG00000266341 0 genome.wustl.edu 37 17 46137781 46137781 + RNA SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 17 46137781 46137781 C T SNP ENSG00000266341 ENST00000583349 human ensembl 70_37 -1 known rna NULL NULL 0.996 - - - no_errors RP5-890E16.4 Clone_based_vega_gene ENSG00000267548 0 genome.wustl.edu 37 17 40127388 40127388 + RNA SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 17 40127388 40127388 C T SNP ENSG00000267548 ENST00000590979 human ensembl 70_37 +1 known rna NULL NULL 0.169 - - - no_errors RP11-229E13.2 Clone_based_vega_gene EPB42 2038 genome.wustl.edu 37 15 43498771 43498771 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 15 43498771 43498771 C T SNP EPB42 ENST00000300215 human ensembl 70_37 -1 known missense c.1465 p.E489K 0.000 NULL pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors EPB42 HGNC EQTN 54586 genome.wustl.edu 37 9 27294471 27294471 + RNA SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 9 27294471 27294471 G C SNP EQTN ENST00000484994 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors EQTN HGNC ERCC6L 54821 genome.wustl.edu 37 X 71425620 71425620 + Silent SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 X 71425620 71425620 G A SNP ERCC6L ENST00000334463 human ensembl 70_37 -1 known silent c.2997 p.L999 0.015 NULL pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_TPR-contain_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ERCC6L HGNC ESPL1 9700 genome.wustl.edu 37 12 53670603 53670603 + Missense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 12 53670603 53670603 C G SNP ESPL1 ENST00000257934 human ensembl 70_37 +1 known missense c.1900 p.Q634E 1.000 NULL pfam_Peptidase_C50 - no_errors ESPL1 HGNC ETFB 2109 genome.wustl.edu 37 19 51857782 51857782 + Silent SNP A A G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 19 51857782 51857782 A G SNP ETFB ENST00000354232 human ensembl 70_37 -1 known silent c.111 p.G37 0.035 NULL pfam_ETF_a/b_N,smart_ETF_a/b_N - no_errors ETFB HGNC ETHE1 23474 genome.wustl.edu 37 19 44012175 44012175 + Silent SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 19 44012175 44012175 C T SNP ETHE1 ENST00000292147 human ensembl 70_37 -1 known silent c.633 p.L211 1.000 NULL pfam_Beta-lactamas-like,smart_Beta-lactamas-like - no_errors ETHE1 HGNC EZH1 2145 genome.wustl.edu 37 17 40879686 40879686 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 17 40879686 40879686 C T SNP EZH1 ENST00000428826 human ensembl 70_37 -1 known missense c.213 p.M71I 1.000 NULL pfam_SET_dom,pfam_EZH2_WD-Binding,superfamily_Homeodomain-like,smart_SANT/Myb,smart_SET_dom,pfscan_SET_dom - no_errors EZH1 HGNC FAM110B 90362 genome.wustl.edu 37 8 59059031 59059031 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 8 59059031 59059031 C T SNP FAM110B ENST00000361488 human ensembl 70_37 +1 known missense c.242 p.A81V 0.999 NULL NULL - no_errors FAM110B HGNC FAM160B2 64760 genome.wustl.edu 37 8 21958132 21958132 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 8 21958132 21958132 G A SNP FAM160B2 ENST00000289921 human ensembl 70_37 +1 known missense c.1369 p.E457K 1.000 pfam_RetinoicA-induced_16-like pfam_RetinoicA-induced_16-like - no_errors FAM160B2 HGNC FAM184B 27146 genome.wustl.edu 37 4 17782845 17782845 + Missense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 4 17782845 17782845 C G SNP FAM184B ENST00000265018 human ensembl 70_37 -1 known missense c.78 p.W26C 1.000 NULL NULL - no_errors FAM184B HGNC FAM200A 221786 genome.wustl.edu 37 7 99145492 99145492 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 7 99145492 99145492 G A SNP FAM200A ENST00000449309 human ensembl 70_37 -1 known missense c.539 p.S180L 0.122 superfamily_RNaseH-like_dom superfamily_RNaseH-like_dom - no_errors FAM200A HGNC FAM208B 54906 genome.wustl.edu 37 10 5788653 5788653 + Missense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 10 5788653 5788653 C G SNP FAM208B ENST00000328090 human ensembl 70_37 +1 known missense c.3269 p.A1090G 0.000 pfam_DUF3699 pfam_DUF3715,pfam_DUF3699 - no_errors FAM208B HGNC FAM208B 54906 genome.wustl.edu 37 10 5791870 5791870 + Silent SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 10 5791870 5791870 C T SNP FAM208B ENST00000328090 human ensembl 70_37 +1 known silent c.6486 p.I2162 0.931 NULL pfam_DUF3715,pfam_DUF3699 - no_errors FAM208B HGNC FAM212A 389119 genome.wustl.edu 37 3 49841843 49841843 + Missense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 3 49841843 49841843 C G SNP FAM212A ENST00000333323 human ensembl 70_37 +1 known missense c.287 p.S96C 1.000 NULL NULL - no_errors FAM212A HGNC FAM227A 646851 genome.wustl.edu 37 22 39032460 39032460 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 22 39032460 39032460 C T SNP FAM227A ENST00000406767 human ensembl 70_37 -1 known missense c.497 p.G166D 0.996 NULL superfamily_Staphylocoagulase_N - no_errors FAM227A HGNC FAM47B 170062 genome.wustl.edu 37 X 34961357 34961357 + Missense_Mutation SNP C C A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 X 34961357 34961357 C A SNP FAM47B ENST00000329357 human ensembl 70_37 +1 known missense c.409 p.L137M 0.087 NULL NULL - no_errors FAM47B HGNC FAS 355 genome.wustl.edu 37 10 90774013 90774013 + Missense_Mutation SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 10 90774013 90774013 G C SNP FAS ENST00000355740 human ensembl 70_37 +1 known missense c.814 p.E272Q 1.000 pfam_Death,superfamily_DEATH-like,smart_Death,pfscan_Death pfam_Death,pfam_TNFR/NGFR_Cys_rich_reg,superfamily_DEATH-like,smart_TNFR/NGFR_Cys_rich_reg,smart_Death,pfscan_Death,pfscan_TNFR/NGFR_Cys_rich_reg,prints_Fas_rcpt - no_errors FAS HGNC FAT1 2195 genome.wustl.edu 37 4 187628227 187628227 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 4 187628227 187628227 C T SNP FAT1 ENST00000441802 human ensembl 70_37 -1 known missense c.2755 p.D919N 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT1 HGNC FBXL19-AS1 283932 genome.wustl.edu 37 16 30934378 30934378 + RNA SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 16 30934378 30934378 C G SNP FBXL19-AS1 ENST00000563777 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors FBXL19-AS1 HGNC FBXO15 201456 genome.wustl.edu 37 18 71807467 71807467 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 18 71807467 71807467 G A SNP FBXO15 ENST00000419743 human ensembl 70_37 -1 known missense c.197 p.S66F 0.004 NULL pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like - no_errors FBXO15 HGNC FCHSD2 9873 genome.wustl.edu 37 11 72553785 72553785 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 11 72553785 72553785 C T SNP FCHSD2 ENST00000409418 human ensembl 70_37 -1 known missense c.1807 p.D603N 1.000 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_SH3_domain,pfam_FCH,pfam_SH3_2,superfamily_SH3_domain,smart_FCH,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain,prints_SH3_domain - no_errors FCHSD2 HGNC FGFR1 2260 genome.wustl.edu 37 8 38271462 38271462 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 8 38271462 38271462 G A SNP FGFR1 ENST00000425967 human ensembl 70_37 -1 known missense c.2359 p.R787C 1.000 superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pirsf_Tyr_kinase_fibroblast_GF_rcpt,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_fibroblast_GF_rcpt,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors FGFR1 HGNC FHAD1 114827 genome.wustl.edu 37 1 15651040 15651040 + Missense_Mutation SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 1 15651040 15651040 G C SNP FHAD1 ENST00000375999 human ensembl 70_37 +1 known missense c.1458 p.E486D 0.995 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors FHAD1 HGNC FMNL1 752 genome.wustl.edu 37 17 43319240 43319240 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 17 43319240 43319240 C T SNP FMNL1 ENST00000328118 human ensembl 70_37 +1 known missense c.1612 p.P538S 0.000 NULL pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg - no_errors FMNL1 HGNC FNDC3B 64778 genome.wustl.edu 37 3 172052800 172052800 + Missense_Mutation SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 3 172052800 172052800 G C SNP FNDC3B ENST00000336824 human ensembl 70_37 +1 known missense c.1708 p.D570H 1.000 superfamily_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors FNDC3B HGNC FREM2 341640 genome.wustl.edu 37 13 39263924 39263924 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 13 39263924 39263924 C T SNP FREM2 ENST00000280481 human ensembl 70_37 +1 known missense c.2443 p.P815S 0.965 NULL pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM2 HGNC FRMPD1 22844 genome.wustl.edu 37 9 37746462 37746462 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 9 37746462 37746462 G A SNP FRMPD1 ENST00000377765 human ensembl 70_37 +1 known missense c.4433 p.R1478K 0.998 NULL pfam_FERM_central,pfam_PDZ,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ - no_errors FRMPD1 HGNC FSCN2 25794 genome.wustl.edu 37 17 79495605 79495605 + Silent SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 17 79495605 79495605 C T SNP FSCN2 ENST00000334850 human ensembl 70_37 +1 known silent c.48 p.L16 0.001 superfamily_Actin_cross-linking pfam_Fascin-domain,superfamily_Actin_cross-linking - no_errors FSCN2 HGNC FUBP1 8880 genome.wustl.edu 37 1 78444657 78444657 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 1 78444657 78444657 G A SNP FUBP1 ENST00000436586 human ensembl 70_37 -1 known missense c.32 p.S11F 0.117 NULL pfam_KH_dom_type_1,pfam_KH_dom_type_2,pfam_DUF1897,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors FUBP1 HGNC FUT5 2527 genome.wustl.edu 37 19 5867440 5867440 + Silent SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 19 5867440 5867440 G A SNP FUT5 ENST00000252675 human ensembl 70_37 -1 known silent c.297 p.P99 0.000 pfam_Glyco_trans_10 pfam_Glyco_trans_10 - no_errors FUT5 HGNC FYCO1 79443 genome.wustl.edu 37 3 46003742 46003742 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 3 46003742 46003742 C T SNP FYCO1 ENST00000535325 human ensembl 70_37 -1 known missense c.3412 p.E1138K 0.999 NULL pfam_Znf_FYVE,pfam_Run,superfamily_GOLD,superfamily_Znf_FYVE_PHD,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Znf_FYVE,pfscan_GOLD,pfscan_Run,pfscan_Znf_FYVE-rel - no_errors FYCO1 HGNC GABBR1 2550 genome.wustl.edu 37 6 29596956 29596956 + Missense_Mutation SNP C C A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 6 29596956 29596956 C A SNP GABBR1 ENST00000489385 human ensembl 70_37 -1 known missense c.544 p.A182S 1.000 NULL pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors GABBR1 HGNC GBP2 2634 genome.wustl.edu 37 1 89583317 89583317 + Missense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 1 89583317 89583317 C G SNP GBP2 ENST00000370466 human ensembl 70_37 -1 known missense c.568 p.D190H 0.000 pfam_Guanylate-bd_N pfam_Guanylate-bd_C,pfam_Guanylate-bd_N,superfamily_Guanylate-bd_C - no_errors GBP2 HGNC GFOD2 81577 genome.wustl.edu 37 16 67719417 67719417 + Missense_Mutation SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 16 67719417 67719417 G C SNP GFOD2 ENST00000268797 human ensembl 70_37 -1 known missense c.202 p.L68V 1.000 pfam_Oxidoreductase_N pfam_Oxidoreductase_N - no_errors GFOD2 HGNC GIN1 54826 genome.wustl.edu 37 5 102423568 102423568 + RNA SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 5 102423568 102423568 C T SNP GIN1 ENST00000507478 human ensembl 70_37 -1 known rna NULL NULL 0.115 - - - no_errors GIN1 HGNC GLOD4 51031 genome.wustl.edu 37 17 685469 685469 + Silent SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 17 685469 685469 G A SNP GLOD4 ENST00000301328 human ensembl 70_37 -1 known silent c.27 p.F9 1.000 NULL NULL - no_errors GLOD4 HGNC GNA13 10672 genome.wustl.edu 37 17 63052540 63052540 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 17 63052540 63052540 C T SNP GNA13 ENST00000439174 human ensembl 70_37 -1 known missense c.172 p.E58K 1.000 pfam_Gprotein_alpha_su,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha12 - no_errors GNA13 HGNC GNMT 27232 genome.wustl.edu 37 6 42930548 42930548 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 6 42930548 42930548 C T SNP GNMT ENST00000372808 human ensembl 70_37 +1 known missense c.383 p.S128L 0.992 pfam_Methyltransf_12,pfam_Methyltransf_11,pirsf_Gly/Sar_N_MeTrfase pfam_Methyltransf_12,pfam_Methyltransf_11,pirsf_Gly/Sar_N_MeTrfase - no_errors GNMT HGNC GPR141 353345 genome.wustl.edu 37 7 37780111 37780111 + Missense_Mutation SNP T T C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 7 37780111 37780111 T C SNP GPR141 ENST00000334425 human ensembl 70_37 +1 known missense c.116 p.L39P 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR141 HGNC GPR152 390212 genome.wustl.edu 37 11 67219209 67219209 + Silent SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 11 67219209 67219209 C T SNP GPR152 ENST00000312457 human ensembl 70_37 -1 known silent c.987 p.E329 0.001 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR152 HGNC GPR65 8477 genome.wustl.edu 37 14 88477990 88477990 + Nonsense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 14 88477990 88477990 C T SNP GPR65 ENST00000267549 human ensembl 70_37 +1 known nonsense c.799 p.R267* 0.387 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Psych_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Psych_rcpt,prints_GPCR_Rhodpsn,prints_P2_purnocptor - no_errors GPR65 HGNC GPR98 84059 genome.wustl.edu 37 5 89923139 89923139 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 5 89923139 89923139 C T SNP GPR98 ENST00000405460 human ensembl 70_37 +1 known missense c.784 p.P262S 1.000 NULL pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC GREB1L 80000 genome.wustl.edu 37 18 19076584 19076584 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 18 19076584 19076584 G A SNP GREB1L ENST00000424526 human ensembl 70_37 +1 known missense c.3316 p.E1106K 0.920 NULL NULL - no_errors GREB1L HGNC GRIP2 80852 genome.wustl.edu 37 3 14548435 14548435 + RNA SNP C C A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 3 14548435 14548435 C A SNP GRIP2 ENST00000273083 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors GRIP2 HGNC GRM3 2913 genome.wustl.edu 37 7 86479761 86479761 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 7 86479761 86479761 G A SNP GRM3 ENST00000361669 human ensembl 70_37 +1 known missense c.2467 p.V823I 1.000 pfam_GPCR_3_C,pfscan_GPCR_3_C 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_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_2,prints_GPCR_3_GABA_rcpt_B - no_errors GRM3 HGNC GSTP1 2950 genome.wustl.edu 37 11 67353729 67353729 + RNA SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 11 67353729 67353729 C T SNP GSTP1 ENST00000495996 human ensembl 70_37 +1 putative rna NULL NULL 0.000 - - - no_errors GSTP1 HGNC GSX2 170825 genome.wustl.edu 37 4 54966573 54966573 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 4 54966573 54966573 C T SNP GSX2 ENST00000326902 human ensembl 70_37 +1 known missense c.62 p.S21L 0.998 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors GSX2 HGNC GTF3C1 2975 genome.wustl.edu 37 16 27561120 27561120 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 16 27561120 27561120 C T SNP GTF3C1 ENST00000356183 human ensembl 70_37 -1 known missense c.92 p.R31Q 0.997 NULL pfam_TFIIIC_Bblock-bd - no_errors GTF3C1 HGNC GYLTL1B 120071 genome.wustl.edu 37 11 45948919 45948919 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 11 45948919 45948919 C T SNP GYLTL1B ENST00000325468 human ensembl 70_37 +1 known missense c.1379 p.A460V 1.000 NULL pfam_Glyco_trans_8 - no_errors GYLTL1B HGNC GYLTL1B 120071 genome.wustl.edu 37 11 45948953 45948953 + Missense_Mutation SNP C C A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 11 45948953 45948953 C A SNP GYLTL1B ENST00000325468 human ensembl 70_37 +1 known missense c.1413 p.F471L 1.000 NULL pfam_Glyco_trans_8 - no_errors GYLTL1B HGNC HABP2 3026 genome.wustl.edu 37 10 115341797 115341797 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 10 115341797 115341797 C T SNP HABP2 ENST00000351270 human ensembl 70_37 +1 known missense c.1001 p.S334L 0.016 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,pfam_Kringle,pfam_EG-like_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Kringle,smart_Peptidase_S1_S6,pfscan_EG-like_dom,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors HABP2 HGNC HDAC6 10013 genome.wustl.edu 37 X 48676649 48676649 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 X 48676649 48676649 C T SNP HDAC6 ENST00000444343 human ensembl 70_37 +1 known missense c.2059 p.R687C 1.000 pfam_His_deacetylse_dom pfam_His_deacetylse_dom,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,prints_His_deacetylse - no_errors HDAC6 HGNC HEATR5A 25938 genome.wustl.edu 37 14 31806814 31806814 + Missense_Mutation SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 14 31806814 31806814 G C SNP HEATR5A ENST00000389961 human ensembl 70_37 -1 known missense c.3217 p.L1073V 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR5A HGNC MROH7 374977 genome.wustl.edu 37 1 55175727 55175727 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 1 55175727 55175727 G A SNP HEATR8 ENST00000421030 human ensembl 70_37 +1 known missense c.3839 p.G1280E 0.012 NULL superfamily_ARM-type_fold - no_errors HEATR8 HGNC HIST1H3D 8351 genome.wustl.edu 37 6 26197326 26197326 + Silent SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 6 26197326 26197326 C T SNP HIST1H3D ENST00000356476 human ensembl 70_37 -1 known silent c.153 p.E51 1.000 superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 - no_errors HIST1H3D HGNC HIST1H4K 8362 genome.wustl.edu 37 6 27798995 27798995 + Nonstop_Mutation SNP C C A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 6 27798995 27798995 C A SNP HIST1H4K ENST00000357549 human ensembl 70_37 -1 known nonstop c.311 p.*104L 0.004 NULL pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4 - no_errors HIST1H4K HGNC HIST2H2AB 317772 genome.wustl.edu 37 1 149859223 149859223 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 1 149859223 149859223 G A SNP HIST2H2AB ENST00000331128 human ensembl 70_37 -1 known missense c.244 p.R82C 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 HIST2H2AB HGNC HIVEP2 3097 genome.wustl.edu 37 6 143074975 143074975 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 6 143074975 143074975 C T SNP HIVEP2 ENST00000012134 human ensembl 70_37 -1 known missense c.6610 p.E2204K 1.000 NULL pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP2 HGNC HMCN1 83872 genome.wustl.edu 37 1 185902924 185902924 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 1 185902924 185902924 C T SNP HMCN1 ENST00000271588 human ensembl 70_37 +1 known missense c.1796 p.S599L 0.006 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd,pfam_Thrombospondin_1_rpt,superfamily_Green_fluorescent_prot-like,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like - no_errors HMCN1 HGNC HOXA7 3204 genome.wustl.edu 37 7 27194714 27194714 + Silent SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 7 27194714 27194714 G A SNP HOXA7 ENST00000242159 human ensembl 70_37 -1 known silent c.507 p.L169 1.000 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa,prints_Homeobox_antennapedia - no_errors HOXA7 HGNC HSPBP1 23640 genome.wustl.edu 37 19 55790870 55790870 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 19 55790870 55790870 G A SNP HSPBP1 ENST00000255631 human ensembl 70_37 -1 known missense c.107 p.S36L 0.102 NULL superfamily_ARM-type_fold - no_errors HSPBP1 HGNC HTATSF1 27336 genome.wustl.edu 37 X 135593294 135593294 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 X 135593294 135593294 G A SNP HTATSF1 ENST00000218364 human ensembl 70_37 +1 known missense c.1390 p.E464K 0.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors HTATSF1 HGNC HUS1B 135458 genome.wustl.edu 37 6 656450 656450 + Silent SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 6 656450 656450 C T SNP HUS1B ENST00000380907 human ensembl 70_37 -1 known silent c.495 p.L165 0.557 pfam_Hus1/Mec3,pirsf_Cell_cycle_HUS1 pfam_Hus1/Mec3,pirsf_Cell_cycle_HUS1 - no_errors HUS1B HGNC IGF2R 3482 genome.wustl.edu 37 6 160479062 160479062 + Missense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 6 160479062 160479062 C G SNP IGF2R ENST00000356956 human ensembl 70_37 +1 known missense c.2804 p.S935C 0.975 pfam_CIMR,superfamily_Man6P_isomerase_rcpt-bd_dom pfam_CIMR,pfam_FN_type2_col-bd,superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd - no_errors IGF2R HGNC IL18R1 8809 genome.wustl.edu 37 2 102979123 102979123 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 2 102979123 102979123 G A SNP IL18R1 ENST00000233957 human ensembl 70_37 +1 known missense c.3 p.M1I 0.621 NULL pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like,prints_IL1_rcpt_1,prints_IL1_rcpt_I/II - no_errors IL18R1 HGNC IQCA1 79781 genome.wustl.edu 37 2 237349739 237349739 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 2 237349739 237349739 G A SNP IQCA1 ENST00000409907 human ensembl 70_37 -1 known missense c.955 p.P319S 0.990 NULL pfam_ATPase_AAA_core,pfscan_IQ_motif_EF-hand-BS - no_errors IQCA1 HGNC IQSEC3 440073 genome.wustl.edu 37 12 271225 271225 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 12 271225 271225 G A SNP IQSEC3 ENST00000326261 human ensembl 70_37 +1 known missense c.2577 p.M859I 1.000 NULL pfam_Sec7,superfamily_Sec7,smart_Sec7,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7 - no_errors IQSEC3 HGNC ITGA10 8515 genome.wustl.edu 37 1 145539770 145539770 + Missense_Mutation SNP C C A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 1 145539770 145539770 C A SNP ITGA10 ENST00000369304 human ensembl 70_37 +1 known missense c.3202 p.L1068M 1.000 NULL pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGA10 HGNC ITGB1 3688 genome.wustl.edu 37 10 33199333 33199333 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 10 33199333 33199333 C T SNP ITGB1 ENST00000374956 human ensembl 70_37 -1 known missense c.1982 p.C661Y 0.999 pfam_Integrin_bsu_tail,superfamily_Integrin_bsu_tail,pirsf_Integrin_bsu pfam_Integrin_bsu_N,pfam_Integrin_bsu_tail,pfam_Integrin_bsu_cyt,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,pirsf_Integrin_bsu,prints_Integrin_bsu - no_errors ITGB1 HGNC ITSN2 50618 genome.wustl.edu 37 2 24443894 24443894 + Missense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 2 24443894 24443894 C G SNP ITSN2 ENST00000355123 human ensembl 70_37 -1 known missense c.3619 p.E1207Q 1.000 superfamily_DH-domain pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_Ca-dep,superfamily_DH-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_SH3_domain,smart_EPS15_homology,smart_EF_hand_Ca-bd,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_EPS15_homology,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_p67phox - no_errors ITSN2 HGNC JAK2 3717 genome.wustl.edu 37 9 5123014 5123014 + Nonsense_Mutation SNP G G T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 9 5123014 5123014 G T SNP JAK2 ENST00000381652 human ensembl 70_37 +1 known nonsense c.3070 p.E1024* 1.000 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,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_SH2,pfscan_Prot_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak2,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors JAK2 HGNC JARID2 3720 genome.wustl.edu 37 6 15497208 15497208 + Silent SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 6 15497208 15497208 C T SNP JARID2 ENST00000341776 human ensembl 70_37 +1 known silent c.1752 p.F584 0.972 pfam_TF_JmjN,smart_TF_JmjN,pfscan_TF_JmjN pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_TF_JmjN,pfam_Znf_C5HC2,superfamily_ARID/BRIGHT_DNA-bd,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_ARID/BRIGHT_DNA-bd - no_errors JARID2 HGNC KCNH8 131096 genome.wustl.edu 37 3 19479678 19479678 + Missense_Mutation SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 3 19479678 19479678 G C SNP KCNH8 ENST00000328405 human ensembl 70_37 +1 known missense c.1200 p.K400N 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_Ion_trans_2,pfam_PAS_fold_3,pfam_PAS_4,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_tRNA-bd_arm,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_EAG,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH8 HGNC KCNJ5 3762 genome.wustl.edu 37 11 128781607 128781607 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 11 128781607 128781607 G A SNP KCNJ5 ENST00000529694 human ensembl 70_37 +1 known missense c.439 p.E147K 1.000 pfam_K_chnl_inward-rec_Kir,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir3.4 - no_errors KCNJ5 HGNC KCNK16 83795 genome.wustl.edu 37 6 39282978 39282978 + Missense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 6 39282978 39282978 C G SNP KCNK16 ENST00000425054 human ensembl 70_37 -1 known missense c.891 p.W297C 0.000 NULL pfam_Ion_trans_2,prints_2pore_dom_K_chnl - no_errors KCNK16 HGNC KDELR3 11015 genome.wustl.edu 37 22 38877382 38877382 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 22 38877382 38877382 G A SNP KDELR3 ENST00000409006 human ensembl 70_37 +1 known missense c.517 p.E173K 1.000 prints_ER_ret_rcpt pfam_ER_ret_rcpt,superfamily_Cyt_c_oxidase_su2-like_TM_dom,prints_ER_ret_rcpt - no_errors KDELR3 HGNC KDM5C 8242 genome.wustl.edu 37 X 53228252 53228252 + Nonsense_Mutation SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 X 53228252 53228252 G C SNP KDM5C ENST00000375401 human ensembl 70_37 -1 known nonsense c.2150 p.S717* 1.000 pfam_Znf_C5HC2 pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_Znf_PHD-finger,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5C HGNC KIF16B 55614 genome.wustl.edu 37 20 16360067 16360067 + Silent SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 20 16360067 16360067 G A SNP KIF16B ENST00000408042 human ensembl 70_37 -1 known silent c.2580 p.I860 0.106 NULL pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF16B HGNC KIF26A 26153 genome.wustl.edu 37 14 104641721 104641721 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 14 104641721 104641721 G A SNP KIF26A ENST00000423312 human ensembl 70_37 +1 known missense c.2596 p.G866R 0.000 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF26A HGNC KIF9 64147 genome.wustl.edu 37 3 47281406 47281406 + Splice_Site SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 3 47281406 47281406 C T SNP KIF9 ENST00000487440 human ensembl 70_37 -1 known splice_site c.NULL NULL 0.004 - - - no_errors KIF9 HGNC KLHL1 57626 genome.wustl.edu 37 13 70681766 70681766 + Silent SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 13 70681766 70681766 G A SNP KLHL1 ENST00000377844 human ensembl 70_37 -1 known silent c.66 p.F22 1.000 NULL pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHL1 HGNC KLHL28 54813 genome.wustl.edu 37 14 45403317 45403317 + Splice_Site SNP C C A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 14 45403317 45403317 C A SNP KLHL28 ENST00000396128 human ensembl 70_37 -1 known splice_site c.1343+1 e2+1 1.000 - - - no_errors KLHL28 HGNC KRT27 342574 genome.wustl.edu 37 17 38933324 38933324 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 17 38933324 38933324 G A SNP KRT27 ENST00000301656 human ensembl 70_37 -1 known missense c.1307 p.S436L 0.871 NULL pfam_F,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT27 HGNC KRT40 125115 genome.wustl.edu 37 17 39137270 39137270 + Missense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 17 39137270 39137270 C G SNP KRT40 ENST00000377755 human ensembl 70_37 -1 known missense c.821 p.R274T 0.438 pfam_F pfam_F,prints_Keratin_I - no_errors KRT40 HGNC KRT79 338785 genome.wustl.edu 37 12 53227956 53227956 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 12 53227956 53227956 C T SNP KRT79 ENST00000330553 human ensembl 70_37 -1 known missense c.89 p.R30H 0.028 NULL pfam_F,superfamily_STAT_TF_coiled-coil,prints_Keratin_II - no_errors KRT79 HGNC KRT85 3891 genome.wustl.edu 37 12 52756210 52756210 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 12 52756210 52756210 C T SNP KRT85 ENST00000257901 human ensembl 70_37 -1 known missense c.1123 p.E375K 1.000 pfam_F,superfamily_Prefoldin,prints_Keratin_II pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT85 HGNC LAMB1 3912 genome.wustl.edu 37 7 107626528 107626528 + Silent SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 7 107626528 107626528 C T SNP LAMB1 ENST00000222399 human ensembl 70_37 -1 known silent c.615 p.V205 1.000 pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N pfam_EGF_laminin,pfam_Laminin_N,superfamily_Prefoldin,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB1 HGNC LAMTOR5 10542 genome.wustl.edu 37 1 110950260 110950260 + Missense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 1 110950260 110950260 C G SNP LAMTOR5 ENST00000256644 human ensembl 70_37 -1 known missense c.229 p.E77Q 0.000 NULL NULL - no_errors LAMTOR5 HGNC LARP1 23367 genome.wustl.edu 37 5 154179283 154179283 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 5 154179283 154179283 G A SNP LARP1 ENST00000336314 human ensembl 70_37 +1 known missense c.1279 p.E427K 1.000 NULL pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,smart_DM15,pfscan_Lupus_La_RNA-bd - no_errors LARP1 HGNC LDB3 11155 genome.wustl.edu 37 10 88441244 88441244 + Missense_Mutation SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 10 88441244 88441244 G C SNP LDB3 ENST00000429277 human ensembl 70_37 +1 known missense c.373 p.E125Q 0.094 NULL pfam_Znf_LIM,pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_ZASP,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ - no_errors LDB3 HGNC LIG4 3981 genome.wustl.edu 37 13 108862394 108862394 + Missense_Mutation SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 13 108862394 108862394 G C SNP LIG4 ENST00000356922 human ensembl 70_37 -1 known missense c.1223 p.A408G 1.000 pfam_DNA_ligase_ATP-dep_cent,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_DNA_ligase_IV,pfam_BRCT_dom,pfam_DNA_ligase_ATP-dep_C,superfamily_NA-bd_OB-fold-like,superfamily_BRCT_dom,superfamily_DNA_ligase_ATP-dep_N,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep - no_errors LIG4 HGNC LILRA1 11024 genome.wustl.edu 37 19 55107366 55107366 + Silent SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 19 55107366 55107366 G A SNP LILRA1 ENST00000251372 human ensembl 70_37 +1 known silent c.924 p.S308 0.000 smart_Ig_sub,pirsf_A1B_glyco/leuk_Ig-like_rcpt smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like - no_errors LILRA1 HGNC LINC00324 284029 genome.wustl.edu 37 17 8126197 8126197 + RNA SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 17 8126197 8126197 G A SNP LINC00324 ENST00000315707 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors LINC00324 HGNC LINC00326 285735 genome.wustl.edu 37 6 133427266 133427266 + RNA SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 6 133427266 133427266 G A SNP LINC00326 ENST00000434443 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors LINC00326 HGNC LMOD2 442721 genome.wustl.edu 37 7 123296144 123296144 + Missense_Mutation SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 7 123296144 123296144 G C SNP LMOD2 ENST00000458573 human ensembl 70_37 +1 known missense c.127 p.D43H 0.998 pfam_Tropomodulin pfam_Tropomodulin,pfscan_WH2_dom - no_errors LMOD2 HGNC LMOD3 56203 genome.wustl.edu 37 3 69168914 69168914 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 3 69168914 69168914 C T SNP LMOD3 ENST00000420581 human ensembl 70_37 -1 known missense c.592 p.E198K 0.100 NULL pfam_Tropomodulin - no_errors LMOD3 HGNC LOC100288332 100288332 genome.wustl.edu 37 16 18471002 18471002 + RNA SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 16 18471002 18471002 C T SNP LOC100288332 ENST00000546267 human ensembl 70_37 -1 known rna NULL NULL 0.990 - - - no_errors PKD1P1 Uniprot_genename LOC100507431 100507431 genome.wustl.edu 37 11 130732055 130732055 + RNA SNP T T G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 11 130732055 130732055 T G SNP LOC100507431 ENST00000533812 human ensembl 70_37 -1 known rna NULL NULL 0.003 - - - no_errors RP11-890B15.2 Clone_based_vega_gene LOC100996554 100996554 genome.wustl.edu 37 1 243219565 243219565 + RNA SNP T T C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 1 243219565 243219565 T C SNP LOC100996554 ENST00000418377 human ensembl 70_37 -1 known rna NULL NULL 0.726 - - - no_errors RP11-261C10.3 Clone_based_vega_gene LOC401242 401242 genome.wustl.edu 37 6 28829695 28829695 + RNA SNP A A G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 6 28829695 28829695 A G SNP LOC401242 ENST00000440244 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors XXbac-BPG308K3.6 Clone_based_vega_gene LOC653712 653712 genome.wustl.edu 37 3 128580474 128580474 + RNA SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 3 128580474 128580474 C G SNP LOC653712 ENST00000480931 human ensembl 70_37 -1 known rna NULL NULL 0.847 - - - no_errors RP11-723O4.2 Clone_based_vega_gene LOC729974 729974 genome.wustl.edu 37 19 56283234 56283234 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 19 56283234 56283234 G A SNP LOC729974 ENST00000341750 human ensembl 70_37 +1 novel missense c.64 p.V22M 0.000 pfscan_Znf_RING pfam_RDM_domain_RFPL,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin - no_errors CTD-2611O12.2 Clone_based_vega_gene LONP2 83752 genome.wustl.edu 37 16 48368183 48368183 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 16 48368183 48368183 G A SNP LONP2 ENST00000285737 human ensembl 70_37 +1 known missense c.1852 p.D618N 0.996 tigrfam_Pept_S16_lon pfam_Pept_S16_C,pfam_Pept_S16_N,pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_PUA-like_domain,smart_Pept_S16_N,smart_AAA+_ATPase,tigrfam_Pept_S16_lon - no_errors LONP2 HGNC LRRC66 339977 genome.wustl.edu 37 4 52861188 52861188 + Nonsense_Mutation SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 4 52861188 52861188 G C SNP LRRC66 ENST00000343457 human ensembl 70_37 -1 known nonsense c.2000 p.S667* 0.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC66 HGNC LRRIQ1 84125 genome.wustl.edu 37 12 85518053 85518053 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 12 85518053 85518053 G A SNP LRRIQ1 ENST00000393217 human ensembl 70_37 +1 known missense c.3763 p.E1255K 0.000 NULL pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS - no_errors LRRIQ1 HGNC LTBP2 4053 genome.wustl.edu 37 14 75078169 75078169 + Missense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 14 75078169 75078169 C G SNP LTBP2 ENST00000261978 human ensembl 70_37 -1 known missense c.479 p.R160P 1.000 NULL pfam_EGF-like_Ca-bd,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom - no_errors LTBP2 HGNC LYZL2 119180 genome.wustl.edu 37 10 30900895 30900895 + Nonsense_Mutation SNP C C A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 10 30900895 30900895 C A SNP LYZL2 ENST00000375318 human ensembl 70_37 -1 known nonsense c.574 p.E192* 0.895 superfamily_Lysozyme-like_dom,smart_Glyco_hydro_22 pfam_Glyco_hydro_22,superfamily_Lysozyme-like_dom,smart_Glyco_hydro_22,prints_Glyco_hydro_22,prints_Glyco_hydro_22_lys - no_errors LYZL2 HGNC MAB21L2 10586 genome.wustl.edu 37 4 151504776 151504776 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 4 151504776 151504776 C T SNP MAB21L2 ENST00000317605 human ensembl 70_37 +1 known missense c.595 p.R199W 1.000 pfam_Mab-21_dom pfam_Mab-21_dom,pfscan_Ricin_B_lectin - no_errors MAB21L2 HGNC MAML1 9794 genome.wustl.edu 37 5 179221048 179221048 + RNA SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 5 179221048 179221048 C T SNP MAML1 ENST00000503050 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors MAML1 HGNC MAP3K4 4216 genome.wustl.edu 37 6 161527647 161527647 + Missense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 6 161527647 161527647 C G SNP MAP3K4 ENST00000392142 human ensembl 70_37 +1 known missense c.3958 p.Q1320E 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 MAP3K4 HGNC MAPK4 5596 genome.wustl.edu 37 18 48248379 48248379 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 18 48248379 48248379 G A SNP MAPK4 ENST00000400384 human ensembl 70_37 +1 known missense c.763 p.E255K 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,prints_MAPK_ERK3/4 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,prints_MAPK_ERK3/4 - no_errors MAPK4 HGNC MBIP 51562 genome.wustl.edu 37 14 36786015 36786015 + Missense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 14 36786015 36786015 C G SNP MBIP ENST00000416007 human ensembl 70_37 -1 known missense c.133 p.D45H 1.000 NULL NULL - no_errors MBIP HGNC MBL1P 8512 genome.wustl.edu 37 10 81680031 81680031 + RNA SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 10 81680031 81680031 G A SNP MBL1P ENST00000480805 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors MBL1P HGNC MCM3AP-AS1 114044 genome.wustl.edu 37 21 47669673 47669673 + RNA SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 21 47669673 47669673 C T SNP MCM3AP-AS1 ENST00000414659 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors MCM3AP-AS1 HGNC METAP2 10988 genome.wustl.edu 37 12 95877012 95877012 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 12 95877012 95877012 G A SNP METAP2 ENST00000323666 human ensembl 70_37 +1 known missense c.281 p.G94E 1.000 NULL pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain,prints_Pept_M24_MAP,tigrfam_Pept_M24A_MAP2 - no_errors METAP2 HGNC MGST3 4259 genome.wustl.edu 37 1 165623517 165623517 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 1 165623517 165623517 G A SNP MGST3 ENST00000367883 human ensembl 70_37 +1 known missense c.293 p.R98H 0.997 pfam_Membr-assoc_MAPEG pfam_Membr-assoc_MAPEG - no_errors MGST3 HGNC MIA3 375056 genome.wustl.edu 37 1 222803422 222803422 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 1 222803422 222803422 G A SNP MIA3 ENST00000344441 human ensembl 70_37 +1 known missense c.2860 p.E954K 0.884 NULL pfam_SH3_2,superfamily_SH3_domain - no_errors MIA3 HGNC MIR142 406934 genome.wustl.edu 37 17 56408533 56408533 + RNA SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 17 56408533 56408533 G A SNP MIR142 ENST00000579003 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors hsa-mir-142 miRBase MIR497HG 100506755 genome.wustl.edu 37 17 6919759 6919759 + RNA SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 17 6919759 6919759 C G SNP MIR497HG ENST00000572453 human ensembl 70_37 -1 known rna NULL NULL 0.003 - - - no_errors MIR497HG HGNC MIR5187 100847090 genome.wustl.edu 37 1 161197035 161197035 + RNA SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 1 161197035 161197035 C T SNP MIR5187 ENST00000583479 human ensembl 70_37 +1 known rna NULL NULL 0.005 - - - no_errors MIR5187 HGNC MIR891A 100126341 genome.wustl.edu 37 X 145109368 145109368 + RNA SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 X 145109368 145109368 C T SNP MIR891A ENST00000401237 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors MIR891A HGNC MKS1 54903 genome.wustl.edu 37 17 56290443 56290443 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 17 56290443 56290443 G A SNP MKS1 ENST00000393119 human ensembl 70_37 -1 known missense c.758 p.T253M 0.487 NULL pfam_B9_dom - no_errors MKS1 HGNC KMT2D 8085 genome.wustl.edu 37 12 49441780 49441780 + Nonsense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 12 49441780 49441780 G A SNP MLL2 ENST00000301067 human ensembl 70_37 -1 known nonsense c.4204 p.Q1402* 1.000 pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Znf_RING,pfscan_Znf_PHD-finger pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL2 HGNC KMT2C 58508 genome.wustl.edu 37 7 151873585 151873585 + Nonsense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 7 151873585 151873585 G A SNP MLL3 ENST00000355193 human ensembl 70_37 -1 known nonsense c.8953 p.Q2985* 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL3 HGNC KMT2C 58508 genome.wustl.edu 37 7 151919142 151919142 + Nonsense_Mutation SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 7 151919142 151919142 G C SNP MLL3 ENST00000355193 human ensembl 70_37 -1 known nonsense c.3443 p.S1148* 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL3 HGNC MMS19 64210 genome.wustl.edu 37 10 99220675 99220675 + Missense_Mutation SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 10 99220675 99220675 G C SNP MMS19 ENST00000370782 human ensembl 70_37 -1 known missense c.2401 p.L801V 0.994 superfamily_ARM-type_fold pfam_Tscrpt_MMS19_N,superfamily_ARM-type_fold - no_errors MMS19 HGNC MRGPRG-AS1 283303 genome.wustl.edu 37 11 3243411 3243411 + RNA SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 11 3243411 3243411 G A SNP MRGPRG-AS1 ENST00000420873 human ensembl 70_37 +1 known rna NULL NULL 0.091 - - - no_errors MRGPRG-AS1 HGNC MRPS31 10240 genome.wustl.edu 37 13 41341071 41341071 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 13 41341071 41341071 G A SNP MRPS31 ENST00000323563 human ensembl 70_37 -1 known missense c.251 p.T84I 0.001 NULL NULL - no_errors MRPS31 HGNC MRPS5 64969 genome.wustl.edu 37 2 95773922 95773922 + Missense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 2 95773922 95773922 C G SNP MRPS5 ENST00000272418 human ensembl 70_37 -1 known missense c.635 p.G212A 1.000 NULL pfam_Ribosomal_S5_C,pfam_Ribosomal_S5_N,superfamily_Ribosomal_S5_D2-typ_fold,pfscan_Ribosomal_S5_N - no_errors MRPS5 HGNC MSLNL 401827 genome.wustl.edu 37 16 828733 828733 + Nonsense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 16 828733 828733 C T SNP MSLNL ENST00000293892 human ensembl 70_37 -1 known nonsense c.989 p.W330* 1.000 NULL pfam_Mesothelin - no_errors MSLNL HGNC MUC4 4585 genome.wustl.edu 37 3 195513724 195513724 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 3 195513724 195513724 G A SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.4727 p.S1576L 0.018 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 MUM1L1 139221 genome.wustl.edu 37 X 105451483 105451483 + Missense_Mutation SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 X 105451483 105451483 G C SNP MUM1L1 ENST00000337685 human ensembl 70_37 +1 known missense c.2058 p.K686N 0.999 NULL superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors MUM1L1 HGNC MYH2 4620 genome.wustl.edu 37 17 10428323 10428323 + Silent SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 17 10428323 10428323 G A SNP MYH2 ENST00000245503 human ensembl 70_37 -1 known silent c.4722 p.V1574 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH2 HGNC MYO10 4651 genome.wustl.edu 37 5 16762719 16762719 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 5 16762719 16762719 C T SNP MYO10 ENST00000513610 human ensembl 70_37 -1 known missense c.1522 p.E508K 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_Pleckstrin_homology,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_Ras-assoc,superfamily_FERM_central,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology,prints_Myosin_head_motor_dom - no_errors MYO10 HGNC MYO15A 51168 genome.wustl.edu 37 17 18060373 18060373 + Nonsense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 17 18060373 18060373 C T SNP MYO15A ENST00000205890 human ensembl 70_37 +1 known nonsense c.8707 p.R2903* 0.048 pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain 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 128350456 128350456 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 2 128350456 128350456 C T SNP MYO7B ENST00000389524 human ensembl 70_37 +1 known missense c.2080 p.R694C 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_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 MYO9B 4650 genome.wustl.edu 37 19 17320447 17320447 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 19 17320447 17320447 G A SNP MYO9B ENST00000594824 human ensembl 70_37 +1 known missense c.5677 p.E1893K 1.000 NULL pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom - no_errors MYO9B HGNC NACAD 23148 genome.wustl.edu 37 7 45124277 45124277 + Missense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 7 45124277 45124277 C G SNP NACAD ENST00000490531 human ensembl 70_37 -1 known missense c.1502 p.R501T 0.000 NULL pfam_Nas_poly-pep-assoc_cplx,pfscan_Nas_poly-pep-assoc_cplx - no_errors NACAD HGNC NALCN 259232 genome.wustl.edu 37 13 101769334 101769334 + RNA SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 13 101769334 101769334 G A SNP NALCN ENST00000467264 human ensembl 70_37 -1 known rna NULL NULL 0.045 - - - no_errors NALCN HGNC NANOS2 339345 genome.wustl.edu 37 19 46417623 46417623 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 19 46417623 46417623 G A SNP NANOS2 ENST00000341294 human ensembl 70_37 -1 known missense c.329 p.T110M 1.000 pfam_Znf_nanos-typ pfam_Znf_nanos-typ - no_errors NANOS2 HGNC NARG2 79664 genome.wustl.edu 37 15 60741397 60741397 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 15 60741397 60741397 C T SNP NARG2 ENST00000261520 human ensembl 70_37 -1 known missense c.1769 p.G590E 0.001 NULL pfam_NARG2_C - no_errors NARG2 HGNC NBEAL2 23218 genome.wustl.edu 37 3 47043554 47043554 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 3 47043554 47043554 G A SNP NBEAL2 ENST00000450053 human ensembl 70_37 +1 known missense c.4927 p.D1643N 0.010 NULL pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NBEAL2 HGNC NBEAL2 23218 genome.wustl.edu 37 3 47049617 47049617 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 3 47049617 47049617 G A SNP NBEAL2 ENST00000450053 human ensembl 70_37 +1 known missense c.7660 p.A2554T 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NBEAL2 HGNC NCALD 83988 genome.wustl.edu 37 8 102731654 102731654 + Silent SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 8 102731654 102731654 G A SNP NCALD ENST00000311028 human ensembl 70_37 -1 known silent c.204 p.V68 1.000 pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin - no_errors NCALD HGNC NCOR2 9612 genome.wustl.edu 37 12 124968228 124968228 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 12 124968228 124968228 G A SNP NCOR2 ENST00000356219 human ensembl 70_37 -1 known missense c.325 p.R109W 0.971 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR2 HGNC NDUFB11 54539 genome.wustl.edu 37 X 47003939 47003939 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 X 47003939 47003939 C T SNP NDUFB11 ENST00000276062 human ensembl 70_37 -1 known missense c.140 p.R47Q 0.889 pfam_NADH_UbQ_OxRdtase_ESSS_su pfam_NADH_UbQ_OxRdtase_ESSS_su - no_errors NDUFB11 HGNC NDUFB7 4713 genome.wustl.edu 37 19 14677664 14677664 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 19 14677664 14677664 C T SNP NDUFB7 ENST00000215565 human ensembl 70_37 -1 known missense c.194 p.R65Q 0.381 pfam_NADH_UbQ_OxRdtase_B18_su pfam_NADH_UbQ_OxRdtase_B18_su - no_errors NDUFB7 HGNC NEB 4703 genome.wustl.edu 37 2 152447960 152447960 + Missense_Mutation SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 2 152447960 152447960 G C SNP NEB ENST00000397345 human ensembl 70_37 -1 known missense c.14836 p.Q4946E 0.001 smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC NFATC1 4772 genome.wustl.edu 37 18 77208903 77208903 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 18 77208903 77208903 C T SNP NFATC1 ENST00000427363 human ensembl 70_37 +1 known missense c.1508 p.S503F 1.000 pfam_RHD,superfamily_p53-like_TF_DNA-bd,pfscan_RHD pfam_RHD,pfam_IPT_TIG_rcpt,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT - no_errors NFATC1 HGNC NFKBIA 4792 genome.wustl.edu 37 14 35872446 35872446 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 14 35872446 35872446 C T SNP NFKBIA ENST00000216797 human ensembl 70_37 -1 known missense c.457 p.E153K 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors NFKBIA HGNC NLGN3 54413 genome.wustl.edu 37 X 70387280 70387280 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 X 70387280 70387280 G A SNP NLGN3 ENST00000358741 human ensembl 70_37 +1 known missense c.1333 p.E445K 1.000 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN3 HGNC NLGN4X 57502 genome.wustl.edu 37 X 5821223 5821223 + Missense_Mutation SNP A A G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 X 5821223 5821223 A G SNP NLGN4X ENST00000381093 human ensembl 70_37 -1 known missense c.1556 p.I519T 1.000 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN4X HGNC NLN 57486 genome.wustl.edu 37 5 65058915 65058915 + Missense_Mutation SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 5 65058915 65058915 G C SNP NLN ENST00000380985 human ensembl 70_37 +1 known missense c.430 p.E144Q 1.000 NULL pfam_Pept_M3A_M3B - no_errors NLN HGNC NLRP1 22861 genome.wustl.edu 37 17 5418837 5418837 + Missense_Mutation SNP C C A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 17 5418837 5418837 C A SNP NLRP1 ENST00000572272 human ensembl 70_37 -1 known missense c.4058 p.G1353V 1.000 NULL pfam_CARD,pfam_DAPIN,pfam_Leu-rich_rpt,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD,pfscan_DAPIN,prints_Disease_R - no_errors NLRP1 HGNC NLRP2 55655 genome.wustl.edu 37 19 55494519 55494519 + Missense_Mutation SNP G G T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 19 55494519 55494519 G T SNP NLRP2 ENST00000448584 human ensembl 70_37 +1 known missense c.1453 p.D485Y 0.004 NULL pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP2 HGNC NOS2 4843 genome.wustl.edu 37 17 26089878 26089878 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 17 26089878 26089878 G A SNP NOS2 ENST00000313735 human ensembl 70_37 -1 known missense c.2746 p.H916Y 0.195 pfam_FAD-binding_1,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_met pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_met,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS2 HGNC NR1D2 9975 genome.wustl.edu 37 3 24001301 24001301 + Missense_Mutation SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 3 24001301 24001301 G C SNP NR1D2 ENST00000312521 human ensembl 70_37 +1 known missense c.512 p.R171T 1.000 pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,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 NR1D2 HGNC NRAP 4892 genome.wustl.edu 37 10 115411592 115411592 + Silent SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 10 115411592 115411592 C T SNP NRAP ENST00000369358 human ensembl 70_37 -1 known silent c.645 p.R215 0.998 pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_Znf_LIM,smart_Znf_LIM,smart_Nebulin_35r-motif,pfscan_Znf_LIM,pfscan_Nebulin_35r-motif,prints_Nebulin - no_errors NRAP HGNC NRG1 3084 genome.wustl.edu 37 8 32621795 32621795 + Missense_Mutation SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 8 32621795 32621795 G C SNP NRG1 ENST00000338921 human ensembl 70_37 +1 known missense c.1822 p.E608Q 0.999 pfam_Neuregulin_1_C pfam_Neuregulin_1_C,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Ig-like,prints_Neuregulin - no_errors NRG1 HGNC NRXN1 9378 genome.wustl.edu 37 2 50147526 50147526 + RNA SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 2 50147526 50147526 C T SNP NRXN1 ENST00000484192 human ensembl 70_37 -1 known rna NULL NULL 0.997 - - - no_errors NRXN1 HGNC NSD1 64324 genome.wustl.edu 37 5 176637093 176637093 + Missense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 5 176637093 176637093 C G SNP NSD1 ENST00000439151 human ensembl 70_37 +1 known missense c.1693 p.P565A 0.004 NULL pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger - no_errors NSD1 HGNC NSD1 64324 genome.wustl.edu 37 5 176662835 176662835 + Silent SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 5 176662835 176662835 G A SNP NSD1 ENST00000439151 human ensembl 70_37 +1 known silent c.3810 p.E1270 1.000 NULL pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger - no_errors NSD1 HGNC NTSR1 4923 genome.wustl.edu 37 20 61391560 61391560 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 20 61391560 61391560 G A SNP NTSR1 ENST00000370501 human ensembl 70_37 +1 known missense c.1198 p.D400N 1.000 prints_NT1_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_NT1_rcpt,prints_GPCR_Rhodpsn,prints_NT_rcpt,prints_P2_purnocptor - no_errors NTSR1 HGNC NUF2 83540 genome.wustl.edu 37 1 163317606 163317606 + Silent SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 1 163317606 163317606 G A SNP NUF2 ENST00000271452 human ensembl 70_37 +1 known silent c.1002 p.L334 0.923 NULL pfam_Kinetochore_Nuf2 - no_errors NUF2 HGNC OAT 4942 genome.wustl.edu 37 10 126097341 126097341 + Silent SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 10 126097341 126097341 G A SNP OAT ENST00000368845 human ensembl 70_37 -1 known silent c.393 p.F131 1.000 pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_Orn_aminotrans pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_Orn_aminotrans - no_errors OAT HGNC OBSCN 84033 genome.wustl.edu 37 1 228492948 228492948 + Silent SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 1 228492948 228492948 C T SNP OBSCN ENST00000366707 human ensembl 70_37 +1 known silent c.4422 p.L1474 0.045 pfam_Ig_I-set,smart_Ig_V-set_subgr,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_DH-domain,pfam_Fibronectin_type3,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain - no_errors OBSCN HGNC OBSCN 84033 genome.wustl.edu 37 1 228556579 228556579 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 1 228556579 228556579 G A SNP OBSCN ENST00000422127 human ensembl 70_37 +1 known missense c.19924 p.E6642K 0.477 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_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain - no_errors OBSCN HGNC ODC1 4953 genome.wustl.edu 37 2 10584290 10584290 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 2 10584290 10584290 C T SNP ODC1 ENST00000234111 human ensembl 70_37 -1 known missense c.380 p.G127E 1.000 pfam_De-COase2_N,prints_Orn_de-COase pfam_De-COase2_N,pfam_De-COase2_C,superfamily_Ala_racemase/Decarboxylase_C,prints_Orn_de-COase,prints_Orn/DAP/Arg_de-COase - no_errors ODC1 HGNC OR13C3 138803 genome.wustl.edu 37 9 107298423 107298423 + Silent SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 9 107298423 107298423 G C SNP OR13C3 ENST00000374781 human ensembl 70_37 -1 known silent c.672 p.L224 0.033 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR13C3 HGNC OR1F1 4992 genome.wustl.edu 37 16 3254273 3254273 + Silent SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 16 3254273 3254273 C G SNP OR1F1 ENST00000304646 human ensembl 70_37 +1 known silent c.27 p.V9 0.241 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1F1 HGNC OR1L3 26735 genome.wustl.edu 37 9 125437562 125437562 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 9 125437562 125437562 G A SNP OR1L3 ENST00000304820 human ensembl 70_37 +1 known missense c.154 p.D52N 0.000 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 OR1L3 HGNC OR4K1 79544 genome.wustl.edu 37 14 20404526 20404526 + Missense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 14 20404526 20404526 C G SNP OR4K1 ENST00000285600 human ensembl 70_37 +1 known missense c.701 p.S234C 0.186 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 OR4K1 HGNC OR5H15 403274 genome.wustl.edu 37 3 97888338 97888338 + Silent SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 3 97888338 97888338 G A SNP OR5H15 ENST00000356526 human ensembl 70_37 +1 known silent c.795 p.P265 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5H15 HGNC OSCP1 127700 genome.wustl.edu 37 1 36904398 36904398 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 1 36904398 36904398 G A SNP OSCP1 ENST00000235532 human ensembl 70_37 -1 known missense c.226 p.H76Y 1.000 pfam_OSCP1 pfam_OSCP1 - no_errors OSCP1 HGNC OXTR 5021 genome.wustl.edu 37 3 8809218 8809218 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 3 8809218 8809218 C T SNP OXTR ENST00000316793 human ensembl 70_37 -1 known missense c.656 p.C219Y 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Vasoprsn_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Oxytocn_rcpt,prints_Vasoprsn_rcpt,prints_GPCR_Rhodpsn - no_errors OXTR HGNC P4HA2 8974 genome.wustl.edu 37 5 131554244 131554244 + Missense_Mutation SNP A A T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 5 131554244 131554244 A T SNP P4HA2 ENST00000166534 human ensembl 70_37 -1 known missense c.76 p.S26T 1.000 pfam_Pro_4_hyd_alph_N pfam_Pro_4_hyd_alph_N,pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors P4HA2 HGNC PADI1 29943 genome.wustl.edu 37 1 17559361 17559361 + Silent SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 1 17559361 17559361 C T SNP PADI1 ENST00000375471 human ensembl 70_37 +1 known silent c.1209 p.P403 0.525 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 PADI1 HGNC PADI2 11240 genome.wustl.edu 37 1 17422424 17422424 + Nonsense_Mutation SNP C C A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 1 17422424 17422424 C A SNP PADI2 ENST00000375486 human ensembl 70_37 -1 known nonsense c.391 p.E131* 1.000 pfam_Prot_Arg_deaminase_cen_dom,superfamily_Prot_Arg_deaminase_cen_dom,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 PADI2 HGNC PAN3 255967 genome.wustl.edu 37 13 28841480 28841480 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 13 28841480 28841480 G A SNP PAN3 ENST00000380958 human ensembl 70_37 +1 known missense c.1734 p.M578I 1.000 superfamily_Kinase-like_dom,pfscan_Prot_kinase_cat_dom superfamily_Kinase-like_dom,smart_Znf_CCCH,pfscan_Prot_kinase_cat_dom - no_errors PAN3 HGNC PATL2 197135 genome.wustl.edu 37 15 44965451 44965451 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 15 44965451 44965451 G A SNP PATL2 ENST00000434130 human ensembl 70_37 -1 known missense c.428 p.S143L 0.924 NULL pfam_Topo_II-assoc_PAT1 - no_errors PATL2 HGNC PBX2 5089 genome.wustl.edu 37 6 32154666 32154666 + Missense_Mutation SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 6 32154666 32154666 G C SNP PBX2 ENST00000375050 human ensembl 70_37 -1 known missense c.1037 p.S346C 1.000 NULL pfam_PBX,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors PBX2 HGNC PCDHB14 56122 genome.wustl.edu 37 5 140604874 140604874 + Silent SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 5 140604874 140604874 C T SNP PCDHB14 ENST00000239449 human ensembl 70_37 +1 known silent c.1797 p.N599 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB14 HGNC PCDHGB4 8641 genome.wustl.edu 37 5 140768001 140768001 + Missense_Mutation SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 5 140768001 140768001 G C SNP PCDHGB4 ENST00000519479 human ensembl 70_37 +1 known missense c.550 p.E184Q 0.003 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB4 HGNC PCLO 27445 genome.wustl.edu 37 7 82581809 82581809 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 7 82581809 82581809 C T SNP PCLO ENST00000333891 human ensembl 70_37 -1 known missense c.8460 p.M2820I 0.000 NULL pfam_Znf_piccolo,pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ - no_errors PCLO HGNC PDE10A 10846 genome.wustl.edu 37 6 165801877 165801877 + Silent SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 6 165801877 165801877 G A SNP PDE10A ENST00000539869 human ensembl 70_37 -1 known silent c.1722 p.Y574 1.000 pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE10A HGNC PDE4B 5142 genome.wustl.edu 37 1 66833405 66833405 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 1 66833405 66833405 G A SNP PDE4B ENST00000329654 human ensembl 70_37 +1 known missense c.1411 p.D471N 1.000 pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE4B HGNC PDLIM3 27295 genome.wustl.edu 37 4 186425697 186425697 + Silent SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 4 186425697 186425697 C T SNP PDLIM3 ENST00000284770 human ensembl 70_37 -1 known silent c.837 p.T279 0.925 NULL pfam_PDZ,pfam_Znf_LIM,superfamily_PDZ,smart_PDZ,smart_ZASP,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ - no_errors PDLIM3 HGNC PDP1 54704 genome.wustl.edu 37 8 94934923 94934923 + Missense_Mutation SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 8 94934923 94934923 G C SNP PDP1 ENST00000396200 human ensembl 70_37 +1 known missense c.711 p.L237F 1.000 pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like - no_errors PDP1 HGNC PDZRN4 29951 genome.wustl.edu 37 12 41966808 41966808 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 12 41966808 41966808 G A SNP PDZRN4 ENST00000402685 human ensembl 70_37 +1 known missense c.2227 p.E743K 1.000 NULL pfam_PDZ,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING - no_errors PDZRN4 HGNC PHC1 1911 genome.wustl.edu 37 12 9091972 9091972 + Missense_Mutation SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 12 9091972 9091972 G C SNP PHC1 ENST00000251757 human ensembl 70_37 +1 known missense c.2932 p.E978Q 1.000 pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM pfam_SAM_type1,pfam_SAM_2,pfam_Znf_MYM,superfamily_SAM/pointed,smart_SAM,pfscan_SAM,pfscan_Znf_FCS - no_errors PHC1 HGNC PHLDB3 653583 genome.wustl.edu 37 19 44008063 44008063 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 19 44008063 44008063 C T SNP PHLDB3 ENST00000292140 human ensembl 70_37 -1 known missense c.208 p.D70N 0.998 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PHLDB3 HGNC PIGC 5279 genome.wustl.edu 37 1 172412936 172412936 + RNA SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 1 172412936 172412936 G A SNP PIGC ENST00000478184 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors PIGC HGNC PIGG 54872 genome.wustl.edu 37 4 524319 524319 + Missense_Mutation SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 4 524319 524319 G C SNP PIGG ENST00000453061 human ensembl 70_37 +1 known missense c.2356 p.D786H 0.129 NULL pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors PIGG HGNC PIK3C2G 5288 genome.wustl.edu 37 12 18552709 18552709 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 12 18552709 18552709 C T SNP PIK3C2G ENST00000538779 human ensembl 70_37 +1 known missense c.2243 p.S748L 0.917 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_Phox,pfam_PI3K_Ras-bd_dom,pfam_C2_Ca-dep,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Phox,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_Ca-dep,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C2G HGNC PKD1 5310 genome.wustl.edu 37 16 2169358 2169358 + Silent SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 16 2169358 2169358 G C SNP PKD1 ENST00000262304 human ensembl 70_37 -1 known silent c.237 p.L79 0.965 smart_Leu-rich_rpt_typical-subtyp pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_LipOase_LH2,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_LipOase_LH2,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_LipOase_LH2,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat - no_errors PKD1 HGNC PKD1P6 353511 genome.wustl.edu 37 16 15227409 15227409 + RNA SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 16 15227409 15227409 G A SNP PKD1P6 ENST00000540075 human ensembl 70_37 -1 known rna NULL NULL 0.994 - - - no_errors PKD1P6 HGNC PKNOX1 5316 genome.wustl.edu 37 21 44448897 44448897 + Nonsense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 21 44448897 44448897 C T SNP PKNOX1 ENST00000291547 human ensembl 70_37 +1 known nonsense c.1012 p.Q338* 1.000 NULL pfam_Homeodomain,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors PKNOX1 HGNC TINCR 257000 genome.wustl.edu 37 19 5561140 5561140 + RNA SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 19 5561140 5561140 C G SNP PLAC2 ENST00000448587 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors PLAC2 HGNC PLCH1 23007 genome.wustl.edu 37 3 155203488 155203488 + Silent SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 3 155203488 155203488 G A SNP PLCH1 ENST00000340059 human ensembl 70_37 -1 known silent c.2655 p.L885 0.994 NULL pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_EF_hand_Ca-bd,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCH1 HGNC PLCH1 23007 genome.wustl.edu 37 3 155271939 155271939 + Silent SNP A A T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 3 155271939 155271939 A T SNP PLCH1 ENST00000340059 human ensembl 70_37 -1 known silent c.1080 p.G360 0.946 pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_EF_hand_Ca-bd,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCH1 HGNC PLEKHB2 55041 genome.wustl.edu 37 2 131890507 131890507 + Silent SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 2 131890507 131890507 G A SNP PLEKHB2 ENST00000303908 human ensembl 70_37 +1 known silent c.366 p.E122 0.944 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHB2 HGNC PLEKHH1 57475 genome.wustl.edu 37 14 68029086 68029086 + Silent SNP T T G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 14 68029086 68029086 T G SNP PLEKHH1 ENST00000329153 human ensembl 70_37 +1 known silent c.738 p.S246 0.001 NULL pfam_Pleckstrin_homology,pfam_MyTH4_dom,pfam_FERM_central,superfamily_FERM_central,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology - no_errors PLEKHH1 HGNC PLP1 5354 genome.wustl.edu 37 X 103041593 103041593 + Missense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 X 103041593 103041593 C G SNP PLP1 ENST00000303958 human ensembl 70_37 +1 known missense c.391 p.Q131E 1.000 pfam_Myelin_PLP,prints_Myelin_PLP pfam_Myelin_PLP,smart_Myelin_PLP,prints_Myelin_PLP - no_errors PLP1 HGNC PMFBP1 83449 genome.wustl.edu 37 16 72166674 72166674 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 16 72166674 72166674 C T SNP PMFBP1 ENST00000537465 human ensembl 70_37 -1 known missense c.1420 p.E474K 0.396 NULL NULL - no_errors PMFBP1 HGNC POGZ 23126 genome.wustl.edu 37 1 151379713 151379713 + Silent SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 1 151379713 151379713 C G SNP POGZ ENST00000271715 human ensembl 70_37 -1 known silent c.2430 p.V810 1.000 NULL pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_Znf_C2H2 - no_errors POGZ HGNC POLA2 23649 genome.wustl.edu 37 11 65062110 65062110 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 11 65062110 65062110 G A SNP POLA2 ENST00000265465 human ensembl 70_37 +1 known missense c.1447 p.E483K 1.000 pfam_DNA_pol_alpha/epsilon_bsu,pirsf_DNA_pol_alpha_bsu pfam_Pol_alpha_B_N,pfam_DNA_pol_alpha/epsilon_bsu,pirsf_DNA_pol_alpha_bsu - no_errors POLA2 HGNC POLL 27343 genome.wustl.edu 37 10 103339545 103339545 + Missense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 10 103339545 103339545 C G SNP POLL ENST00000299206 human ensembl 70_37 -1 known missense c.1393 p.E465Q 1.000 smart_DNA-dir_DNA_pol_X pfam_DNA_pol_lambd_fingers_domain,superfamily_DNA-dir_DNA_pol_X_beta-like_N,superfamily_DNA_pol_lambd_fingers_domain,superfamily_BRCT_dom,smart_DNA-dir_DNA_pol_X,pfscan_BRCT_dom,prints_DNA_pol_X_beta-like,prints_DNA_pol_X - no_errors POLL HGNC POLM 27434 genome.wustl.edu 37 7 44120006 44120006 + Missense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 7 44120006 44120006 C G SNP POLM ENST00000445616 human ensembl 70_37 -1 known missense c.437 p.G146A 0.001 NULL superfamily_BRCT_dom,pfscan_BRCT_dom,prints_DNA_nucleotidylexotransferase - no_errors POLM HGNC POLQ 10721 genome.wustl.edu 37 3 121158950 121158950 + Missense_Mutation SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 3 121158950 121158950 G C SNP POLQ ENST00000264233 human ensembl 70_37 -1 known missense c.7278 p.F2426L 1.000 pfam_DNA-dir_DNA_pol_A_palm_dom,smart_DNA-dir_DNA_pol_A_palm_dom pfam_DNA-dir_DNA_pol_A_palm_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_DNA-dir_DNA_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_DNA_polymerase_A - no_errors POLQ HGNC POLR2E 5434 genome.wustl.edu 37 19 1090928 1090928 + Silent SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 19 1090928 1090928 G A SNP POLR2E ENST00000215587 human ensembl 70_37 -1 known silent c.408 p.L136 1.000 superfamily_RNA_pol_Rpb5_N,pirsf_DNA-dir_RNA_pol_RPB5_su pfam_RNA_pol_subH/Rpb5_C,pfam_RNA_pol_Rpb5_N,superfamily_RNA_pol_Rpb5_N,superfamily_RNA_pol_subH/Rpb5_C,pirsf_DNA-dir_RNA_pol_RPB5_su - no_errors POLR2E HGNC PPFIA1 8500 genome.wustl.edu 37 11 70222679 70222679 + Silent SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 11 70222679 70222679 C T SNP PPFIA1 ENST00000253925 human ensembl 70_37 +1 known silent c.3357 p.V1119 0.994 superfamily_SAM/pointed,smart_SAM,pfscan_SAM pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIA1 HGNC PPIP5K2 23262 genome.wustl.edu 37 5 102490381 102490381 + Missense_Mutation SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 5 102490381 102490381 G C SNP PPIP5K2 ENST00000358359 human ensembl 70_37 +1 known missense c.1225 p.D409H 1.000 pfam_His_Pase_superF_clade-2 pfam_His_Pase_superF_clade-2 - no_errors PPIP5K2 HGNC PPL 5493 genome.wustl.edu 37 16 4987026 4987026 + Missense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 16 4987026 4987026 C G SNP PPL ENST00000345988 human ensembl 70_37 -1 known missense c.21 p.K7N 1.000 NULL pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors PPL HGNC PPP5C 5536 genome.wustl.edu 37 19 46891689 46891689 + Nonsense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 19 46891689 46891689 C G SNP PPP5C ENST00000012443 human ensembl 70_37 +1 known nonsense c.1160 p.S387* 0.996 pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,pirsf_Ser/Thr_PPase_5,prints_Ser/Thr-sp_prot-phosphatase pfam_Metallo_PEstase_dom,pfam_PPP_dom,pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,smart_Ser/Thr-sp_prot-phosphatase,pirsf_Ser/Thr_PPase_5,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPP5C HGNC PREX1 57580 genome.wustl.edu 37 20 47305245 47305245 + Missense_Mutation SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 20 47305245 47305245 G C SNP PREX1 ENST00000371941 human ensembl 70_37 -1 known missense c.1284 p.I428M 1.000 pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom pfam_DH-domain,pfam_DEP_dom,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX1 HGNC PROB1 389333 genome.wustl.edu 37 5 138729801 138729801 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 5 138729801 138729801 G A SNP PROB1 ENST00000434752 human ensembl 70_37 -1 known missense c.970 p.R324W 1.000 NULL NULL - no_errors PROB1 HGNC PRR14L 253143 genome.wustl.edu 37 22 32112817 32112817 + Missense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 22 32112817 32112817 C G SNP PRR14L ENST00000397493 human ensembl 70_37 -1 known missense c.1008 p.L336F 0.002 NULL NULL - no_errors PRR14L HGNC PRR14L 253143 genome.wustl.edu 37 22 32113264 32113264 + Missense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 22 32113264 32113264 C G SNP PRR14L ENST00000397493 human ensembl 70_37 -1 known missense c.561 p.Q187H 0.996 NULL NULL - no_errors PRR14L HGNC PRSS16 10279 genome.wustl.edu 37 6 27218887 27218887 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 6 27218887 27218887 G A SNP PRSS16 ENST00000230582 human ensembl 70_37 +1 known missense c.658 p.E220K 0.729 pfam_Peptidase_S28 pfam_Peptidase_S28 - no_errors PRSS16 HGNC PSG6 5675 genome.wustl.edu 37 19 43411200 43411200 + Nonsense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 19 43411200 43411200 G A SNP PSG6 ENST00000292125 human ensembl 70_37 -1 known nonsense c.1114 p.Q372* 0.001 pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors PSG6 HGNC PSMC5 5705 genome.wustl.edu 37 17 61905260 61905260 + RNA SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 17 61905260 61905260 C T SNP PSMC5 ENST00000582420 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors PSMC5 HGNC PTPRD 5789 genome.wustl.edu 37 9 8484375 8484375 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 9 8484375 8484375 G A SNP PTPRD ENST00000356435 human ensembl 70_37 -1 known missense c.3157 p.L1053F 1.000 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 PTPRT 11122 genome.wustl.edu 37 20 40944408 40944408 + Silent SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 20 40944408 40944408 C T SNP PTPRT ENST00000373198 human ensembl 70_37 -1 known silent c.2094 p.L698 0.863 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRT HGNC RAB33B 83452 genome.wustl.edu 37 4 140375356 140375356 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 4 140375356 140375356 G A SNP RAB33B ENST00000305626 human ensembl 70_37 +1 known missense c.7 p.E3K 0.016 NULL pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,pfam_SRP_receptor_beta_su,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB33B HGNC RABGAP1 23637 genome.wustl.edu 37 9 125777841 125777841 + Silent SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 9 125777841 125777841 G C SNP RABGAP1 ENST00000373647 human ensembl 70_37 +1 known silent c.1569 p.L523 1.000 NULL pfam_Rab-GTPase-TBC_dom,pfam_Kinesin-like,pfam_PTyr_interaction_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTyr_interaction_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTyr_interaction_dom,pfscan_Rab-GTPase-TBC_dom - no_errors RABGAP1 HGNC RAD54L2 23132 genome.wustl.edu 37 3 51671288 51671288 + Missense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 3 51671288 51671288 C G SNP RAD54L2 ENST00000409535 human ensembl 70_37 +1 known missense c.1451 p.S484C 1.000 pfam_SNF2_N,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors RAD54L2 HGNC RAN 5901 genome.wustl.edu 37 12 131360460 131360460 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 12 131360460 131360460 G A SNP RAN ENST00000392369 human ensembl 70_37 +1 known missense c.640 p.D214N 1.000 smart_Ran_GTPase pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAN HGNC RARG 5916 genome.wustl.edu 37 12 53608313 53608313 + Nonsense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 12 53608313 53608313 G A SNP RARG ENST00000394426 human ensembl 70_37 -1 known nonsense c.553 p.Q185* 1.000 superfamily_Nucl_hormone_rcpt_ligand-bd,prints_Retinoic_acid_rcpt pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Nuc_orph_rcpt,prints_Retinoid-X_rcpt/HNF4 - no_errors RARG HGNC RASA4B 100271927 genome.wustl.edu 37 7 102129561 102129561 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 7 102129561 102129561 G A SNP RASA4B ENST00000488284 human ensembl 70_37 -1 known missense c.553 p.R185W 0.453 NULL superfamily_Rho_GTPase_activation_prot,pfscan_RasGAP - no_errors RASA4B HGNC RBM34 23029 genome.wustl.edu 37 1 235295225 235295225 + Missense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 1 235295225 235295225 C G SNP RBM34 ENST00000408888 human ensembl 70_37 -1 known missense c.1096 p.E366Q 0.519 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM34 HGNC RBM43 375287 genome.wustl.edu 37 2 152117885 152117885 + Missense_Mutation SNP G G T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 2 152117885 152117885 G T SNP RBM43 ENST00000409092 human ensembl 70_37 -1 putative missense c.142 p.R48S 0.001 NULL NULL - no_errors RBM43 HGNC REG3A 5068 genome.wustl.edu 37 2 79386527 79386527 + Missense_Mutation SNP A A G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 2 79386527 79386527 A G SNP REG3A ENST00000305165 human ensembl 70_37 -1 known missense c.5 p.L2P 0.001 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors REG3A HGNC RLIM 51132 genome.wustl.edu 37 X 73812278 73812278 + Missense_Mutation SNP G G T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 X 73812278 73812278 G T SNP RLIM ENST00000332687 human ensembl 70_37 -1 known missense c.872 p.T291K 0.032 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RLIM HGNC RLIM 51132 genome.wustl.edu 37 X 73812297 73812297 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 X 73812297 73812297 G A SNP RLIM ENST00000332687 human ensembl 70_37 -1 known missense c.853 p.L285F 0.023 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RLIM HGNC RNF180 285671 genome.wustl.edu 37 5 63621060 63621060 + Silent SNP A A G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 5 63621060 63621060 A G SNP RNF180 ENST00000389100 human ensembl 70_37 +1 known silent c.1275 p.E425 0.865 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF180 HGNC RNF207 388591 genome.wustl.edu 37 1 6273207 6273207 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 1 6273207 6273207 G A SNP RNF207 ENST00000377939 human ensembl 70_37 +1 novel missense c.1616 p.R539H 1.000 NULL pfam_Znf_B-box,smart_Znf_RING,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors RNF207 HGNC RNF213 57674 genome.wustl.edu 37 17 78280985 78280985 + Missense_Mutation SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 17 78280985 78280985 G C SNP RNF213 ENST00000582970 human ensembl 70_37 +1 known missense c.2485 p.D829H 0.210 NULL smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC RNPC3 55599 genome.wustl.edu 37 1 104086054 104086054 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 1 104086054 104086054 G A SNP RNPC3 ENST00000423855 human ensembl 70_37 +1 known missense c.1030 p.E344K 0.991 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RNPC3 HGNC RORC 6097 genome.wustl.edu 37 1 151785517 151785517 + Silent SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 1 151785517 151785517 G A SNP RORC ENST00000392697 human ensembl 70_37 -1 known silent c.1353 p.I451 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_ROR_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_ThyrH_rcpt - no_errors RORC HGNC RP1 6101 genome.wustl.edu 37 8 55540312 55540312 + Missense_Mutation SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 8 55540312 55540312 G C SNP RP1 ENST00000220676 human ensembl 70_37 +1 known missense c.3870 p.Q1290H 0.969 NULL pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1 HGNC RPGRIP1 57096 genome.wustl.edu 37 14 21780021 21780021 + Silent SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 14 21780021 21780021 C G SNP RPGRIP1 ENST00000206660 human ensembl 70_37 +1 known silent c.969 p.L323 0.001 NULL pfam_DUF3250,superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors RPGRIP1 HGNC RPS21 6227 genome.wustl.edu 37 20 60962391 60962391 + RNA SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 20 60962391 60962391 C G SNP RPS21 ENST00000492356 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RPS21 HGNC RPUSD4 84881 genome.wustl.edu 37 11 126081456 126081456 + Silent SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 11 126081456 126081456 G A SNP RPUSD4 ENST00000298317 human ensembl 70_37 -1 known silent c.78 p.L26 0.000 NULL pfam_PsdUridine_synth_RsuA/RluD,superfamily_PsdUridine_synth_cat_dom - no_errors RPUSD4 HGNC RSPH3 83861 genome.wustl.edu 37 6 159403702 159403702 + Missense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 6 159403702 159403702 C G SNP RSPH3 ENST00000252655 human ensembl 70_37 -1 known missense c.937 p.E313Q 0.992 pfam_Radial_spoke_3 pfam_Radial_spoke_3 - no_errors RSPH3 HGNC RUNX1T1 862 genome.wustl.edu 37 8 92988170 92988170 + Silent SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 8 92988170 92988170 C T SNP RUNX1T1 ENST00000436581 human ensembl 70_37 -1 known silent c.1344 p.A448 0.766 NULL pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTG8 - no_errors RUNX1T1 HGNC RYR1 6261 genome.wustl.edu 37 19 38991553 38991553 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 19 38991553 38991553 G A SNP RYR1 ENST00000359596 human ensembl 70_37 +1 known missense c.7537 p.E2513K 1.000 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC RYR2 6262 genome.wustl.edu 37 1 237886488 237886488 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 1 237886488 237886488 G A SNP RYR2 ENST00000360064 human ensembl 70_37 +1 known missense c.10609 p.D3537N 0.997 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR2 HGNC SCAPER 49855 genome.wustl.edu 37 15 77021070 77021070 + Missense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 15 77021070 77021070 C G SNP SCAPER ENST00000324767 human ensembl 70_37 -1 known missense c.2031 p.K677N 0.992 NULL smart_Znf_U1 - no_errors SCAPER HGNC SCMH1 22955 genome.wustl.edu 37 1 41494305 41494305 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 1 41494305 41494305 C T SNP SCMH1 ENST00000326197 human ensembl 70_37 -1 known missense c.1808 p.R603Q 1.000 pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt,pfscan_SAM - no_errors SCMH1 HGNC SCN1B 6324 genome.wustl.edu 37 19 35524562 35524562 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 19 35524562 35524562 G A SNP SCN1B ENST00000262631 human ensembl 70_37 +1 known missense c.367 p.V123I 1.000 pfam_Immunoglobulin,pfam_Ig_V-set pfam_Immunoglobulin,pfam_Ig_V-set - no_errors SCN1B HGNC SCNN1G 6340 genome.wustl.edu 37 16 23224213 23224213 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 16 23224213 23224213 G A SNP SCNN1G ENST00000300061 human ensembl 70_37 +1 known missense c.1429 p.E477K 0.972 pfam_Na+channel_ASC,tigrfam_EnaC pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC - no_errors SCNN1G HGNC SEC24A 10802 genome.wustl.edu 37 5 134059323 134059323 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 5 134059323 134059323 G A SNP SEC24A ENST00000398844 human ensembl 70_37 +1 known missense c.3130 p.E1044K 1.000 NULL pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom - no_errors SEC24A HGNC SERPINA13P 388007 genome.wustl.edu 37 14 95107717 95107717 + RNA SNP C C A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 14 95107717 95107717 C A SNP SERPINA13P ENST00000469935 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors SERPINA13P HGNC SERPINB11 89778 genome.wustl.edu 37 18 61388146 61388146 + Missense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 18 61388146 61388146 C G SNP SERPINB11 ENST00000536691 human ensembl 70_37 +1 known missense c.175 p.L59V 0.989 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINB11 HGNC SH3GL1 6455 genome.wustl.edu 37 19 4364097 4364097 + Silent SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 19 4364097 4364097 C T SNP SH3GL1 ENST00000269886 human ensembl 70_37 -1 known silent c.453 p.L151 1.000 pfam_BAR_dom,pfam_BAR_dom-cont,smart_BAR_dom,pfscan_BAR_dom pfam_BAR_dom,pfam_SH3_domain,pfam_BAR_dom-cont,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox - no_errors SH3GL1 HGNC SH3TC1 54436 genome.wustl.edu 37 4 8229939 8229939 + Nonsense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 4 8229939 8229939 C T SNP SH3TC1 ENST00000245105 human ensembl 70_37 +1 known nonsense c.2518 p.Q840* 0.000 NULL superfamily_SH3_domain,smart_SH3_domain,smart_TPR_repeat,pfscan_SH3_domain - no_errors SH3TC1 HGNC SHROOM4 57477 genome.wustl.edu 37 X 50350549 50350549 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 X 50350549 50350549 G A SNP SHROOM4 ENST00000289292 human ensembl 70_37 -1 known missense c.3593 p.S1198L 0.002 NULL pfam_ASD2,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM4 HGNC SI 6476 genome.wustl.edu 37 3 164764781 164764781 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 3 164764781 164764781 G A SNP SI ENST00000264382 human ensembl 70_37 -1 known missense c.1735 p.P579S 0.999 pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil - no_errors SI HGNC SIDT2 51092 genome.wustl.edu 37 11 117063944 117063944 + Silent SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 11 117063944 117063944 C T SNP SIDT2 ENST00000278951 human ensembl 70_37 +1 known silent c.2244 p.L748 0.820 NULL NULL - no_errors SIDT2 HGNC SIGLEC1 6614 genome.wustl.edu 37 20 3682139 3682139 + Missense_Mutation SNP C C A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 20 3682139 3682139 C A SNP SIGLEC1 ENST00000344754 human ensembl 70_37 -1 known missense c.1378 p.D460Y 0.018 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors SIGLEC1 HGNC SLC22A4 6583 genome.wustl.edu 37 5 131671652 131671652 + Missense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 5 131671652 131671652 C G SNP SLC22A4 ENST00000200652 human ensembl 70_37 +1 known missense c.1403 p.S468C 1.000 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp - no_errors SLC22A4 HGNC SLC25A10 1468 genome.wustl.edu 37 17 79674001 79674001 + Silent SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 17 79674001 79674001 G A SNP SLC25A10 ENST00000541223 human ensembl 70_37 +1 known silent c.411 p.A137 0.034 pfam_Ribosomal_L7/L12_C,superfamily_Mt_carrier_dom pfam_Mitochondrial_sb/sol_carrier,pfam_Ribosomal_L7/L12_C,superfamily_Mt_carrier_dom,superfamily_Ribosomal_L7/L12_oligo,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_uncoupling - no_errors SLC25A10 HGNC SLC25A24 29957 genome.wustl.edu 37 1 108681794 108681794 + Missense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 1 108681794 108681794 C G SNP SLC25A24 ENST00000565488 human ensembl 70_37 -1 known missense c.1135 p.D379H 0.998 superfamily_Mt_carrier_dom pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Graves_DC - no_errors SLC25A24 HGNC SLC3A2 6520 genome.wustl.edu 37 11 62648619 62648619 + Silent SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 11 62648619 62648619 C T SNP SLC3A2 ENST00000377892 human ensembl 70_37 +1 known silent c.520 p.L174 0.957 NULL pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom - no_errors SLC3A2 HGNC SLC4A9 83697 genome.wustl.edu 37 5 139745485 139745485 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 5 139745485 139745485 C T SNP SLC4A9 ENST00000230993 human ensembl 70_37 +1 known missense c.1849 p.R617C 0.970 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 SLC4A9 HGNC SLCO1A2 6579 genome.wustl.edu 37 12 21467488 21467488 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 12 21467488 21467488 C T SNP SLCO1A2 ENST00000307378 human ensembl 70_37 -1 known missense c.330 p.M110I 0.976 pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO1A2 HGNC SLCO5A1 81796 genome.wustl.edu 37 8 70744929 70744929 + RNA SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 8 70744929 70744929 G C SNP SLCO5A1 ENST00000528658 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors SLCO5A1 HGNC SLIT2 9353 genome.wustl.edu 37 4 20255564 20255564 + Silent SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 4 20255564 20255564 C T SNP SLIT2 ENST00000504154 human ensembl 70_37 +1 known silent c.126 p.H42 1.000 pfam_LRR-contain_N,smart_LRR-contain_N pfam_EG-like_dom,pfam_Laminin_G,pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT2 HGNC SLIT3 6586 genome.wustl.edu 37 5 168199788 168199788 + Nonsense_Mutation SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 5 168199788 168199788 G C SNP SLIT3 ENST00000519560 human ensembl 70_37 -1 known nonsense c.1457 p.S486* 1.000 pfam_Cys-rich_flank_reg_C,smart_Cys-rich_flank_reg_C pfam_EG-like_dom,pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT3 HGNC SNAP25 6616 genome.wustl.edu 37 20 10258389 10258389 + RNA SNP T T C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 20 10258389 10258389 T C SNP SNAP25 ENST00000492814 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors SNAP25 HGNC SNIP1 79753 genome.wustl.edu 37 1 38019744 38019744 + Silent SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 1 38019744 38019744 C T SNP SNIP1 ENST00000296215 human ensembl 70_37 -1 known silent c.87 p.V29 1.000 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors SNIP1 HGNC SNTB2 6645 genome.wustl.edu 37 16 69318092 69318092 + Silent SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 16 69318092 69318092 G A SNP SNTB2 ENST00000336278 human ensembl 70_37 +1 known silent c.1290 p.R430 0.993 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology - no_errors SNTB2 HGNC SNX6 58533 genome.wustl.edu 37 14 35037129 35037129 + Silent SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 14 35037129 35037129 G A SNP SNX6 ENST00000362031 human ensembl 70_37 -1 known silent c.1048 p.L350 1.000 pfam_Vps5_C,pfam_BAR_dom,pirsf_Snx5_Snx6 pfam_Phox,pfam_Vps5_C,pfam_BAR_dom,superfamily_Phox,pirsf_Snx5_Snx6,pfscan_Phox - no_errors SNX6 HGNC SPATA31D1 389763 genome.wustl.edu 37 9 84609460 84609460 + Missense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 9 84609460 84609460 C G SNP SPATA31D1 ENST00000344803 human ensembl 70_37 +1 known missense c.4075 p.Q1359E 0.006 NULL NULL - no_errors SPATA31D1 HGNC SPATA6 54558 genome.wustl.edu 37 1 48764497 48764497 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 1 48764497 48764497 G A SNP SPATA6 ENST00000371847 human ensembl 70_37 -1 known missense c.1355 p.S452F 0.722 NULL NULL - no_errors SPATA6 HGNC SPG11 80208 genome.wustl.edu 37 15 44944412 44944412 + Nonsense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 15 44944412 44944412 G A SNP SPG11 ENST00000261866 human ensembl 70_37 -1 known nonsense c.922 p.Q308* 0.991 NULL NULL - no_errors SPG11 HGNC SPNS2 124976 genome.wustl.edu 37 17 4434019 4434019 + Silent SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 17 4434019 4434019 C T SNP SPNS2 ENST00000329078 human ensembl 70_37 +1 known silent c.666 p.F222 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 SPNS2 HGNC SPTBN5 51332 genome.wustl.edu 37 15 42147812 42147812 + Silent SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 15 42147812 42147812 G A SNP SPTBN5 ENST00000320955 human ensembl 70_37 -1 known silent c.9153 p.F3051 0.007 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN5 HGNC SRCAP 10847 genome.wustl.edu 37 16 30749064 30749064 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 16 30749064 30749064 C T SNP SRCAP ENST00000262518 human ensembl 70_37 +1 known missense c.7703 p.S2568F 0.079 NULL pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like - no_errors SRCAP HGNC SSH2 85464 genome.wustl.edu 37 17 27958150 27958150 + Silent SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 17 27958150 27958150 G C SNP SSH2 ENST00000269033 human ensembl 70_37 -1 known silent c.3981 p.L1327 1.000 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors SSH2 HGNC SSH2 85464 genome.wustl.edu 37 17 28011590 28011590 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 17 28011590 28011590 G A SNP SSH2 ENST00000269033 human ensembl 70_37 -1 known missense c.389 p.S130F 1.000 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors SSH2 HGNC SSH2 85464 genome.wustl.edu 37 17 28011595 28011595 + Silent SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 17 28011595 28011595 G A SNP SSH2 ENST00000269033 human ensembl 70_37 -1 known silent c.384 p.F128 1.000 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors SSH2 HGNC STK11IP 114790 genome.wustl.edu 37 2 220473457 220473457 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 2 220473457 220473457 G A SNP STK11IP ENST00000456909 human ensembl 70_37 +1 novel missense c.1756 p.E586K 0.648 NULL NULL - no_errors STK11IP HGNC STK4 6789 genome.wustl.edu 37 20 43629817 43629817 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 20 43629817 43629817 G A SNP STK4 ENST00000372806 human ensembl 70_37 +1 known missense c.970 p.E324K 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_SARAH_domain,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SARAH,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors STK4 HGNC STMN4 81551 genome.wustl.edu 37 8 27099947 27099947 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 8 27099947 27099947 C T SNP STMN4 ENST00000350889 human ensembl 70_37 -1 known missense c.76 p.D26N 0.596 pirsf_Stathmin_fam pfam_Stathmin_fam,superfamily_Stathmin_fam,pirsf_Stathmin_fam,prints_Stathmin_fam - no_errors STMN4 HGNC SYNE1 23345 genome.wustl.edu 37 6 152690138 152690138 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 6 152690138 152690138 G A SNP SYNE1 ENST00000265368 human ensembl 70_37 -1 known missense c.9776 p.S3259F 1.000 pfam_Spectrin_repeat,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 SYNE2 23224 genome.wustl.edu 37 14 64556365 64556365 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 14 64556365 64556365 C T SNP SYNE2 ENST00000358025 human ensembl 70_37 +1 known missense c.11744 p.S3915L 0.998 NULL pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC SYNE2 23224 genome.wustl.edu 37 14 64599082 64599082 + Missense_Mutation SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 14 64599082 64599082 G C SNP SYNE2 ENST00000358025 human ensembl 70_37 +1 known missense c.14440 p.E4814Q 1.000 NULL pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC SYNPO 11346 genome.wustl.edu 37 5 150029188 150029188 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 5 150029188 150029188 G A SNP SYNPO ENST00000394243 human ensembl 70_37 +1 known missense c.2083 p.E695K 1.000 NULL NULL - no_errors SYNPO HGNC SYNPR 132204 genome.wustl.edu 37 3 63601102 63601102 + Nonsense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 3 63601102 63601102 C G SNP SYNPR ENST00000478300 human ensembl 70_37 +1 known nonsense c.803 p.S268* 0.534 NULL pfam_MARVEL-like_dom,prints_Synaptophysin/porin - no_errors SYNPR HGNC SYT1 6857 genome.wustl.edu 37 12 79685803 79685803 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 12 79685803 79685803 G A SNP SYT1 ENST00000261205 human ensembl 70_37 +1 known missense c.367 p.D123N 1.000 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin,prints_C2_dom - no_errors SYT1 HGNC SYTL1 84958 genome.wustl.edu 37 1 27678211 27678211 + RNA SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 1 27678211 27678211 G C SNP SYTL1 ENST00000475199 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors SYTL1 HGNC SYTL2 54843 genome.wustl.edu 37 11 85445564 85445564 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 11 85445564 85445564 G A SNP SYTL2 ENST00000316356 human ensembl 70_37 -1 known missense c.808 p.P270S 0.988 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Rab-bd_domain - no_errors SYTL2 HGNC TACR1 6869 genome.wustl.edu 37 2 75280790 75280790 + Missense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 2 75280790 75280790 C G SNP TACR1 ENST00000305249 human ensembl 70_37 -1 known missense c.677 p.S226T 1.000 pfam_GPCR_Rhodpsn,prints_Neurokn_rcpt,prints_NK3_rcpt,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_NK1_rcpt,prints_Neurokn_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_NK3_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors TACR1 HGNC TANC2 26115 genome.wustl.edu 37 17 61492980 61492980 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 17 61492980 61492980 G A SNP TANC2 ENST00000424789 human ensembl 70_37 +1 known missense c.3860 p.R1287Q 1.000 pfscan_TPR-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TANC2 HGNC TANK 10010 genome.wustl.edu 37 2 162080448 162080448 + Missense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 2 162080448 162080448 C G SNP TANK ENST00000259075 human ensembl 70_37 +1 known missense c.350 p.S117C 1.000 NULL NULL - no_errors TANK HGNC TBC1D9B 23061 genome.wustl.edu 37 5 179290680 179290680 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 5 179290680 179290680 G A SNP TBC1D9B ENST00000356834 human ensembl 70_37 -1 known missense c.3521 p.T1174M 0.997 NULL pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_HAND_2,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D9B HGNC TDRD3 81550 genome.wustl.edu 37 13 61103127 61103127 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 13 61103127 61103127 G A SNP TDRD3 ENST00000535286 human ensembl 70_37 +1 known missense c.1768 p.E590K 1.000 NULL pfam_DUF1767,pfam_Tudor,pfam_Survival_motor_neuron,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,smart_Tudor,pfscan_Tudor,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors TDRD3 HGNC TENM4 26011 genome.wustl.edu 37 11 78926879 78926879 + RNA SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 11 78926879 78926879 G A SNP TENM4 ENST00000528688 human ensembl 70_37 -1 known rna NULL NULL 0.998 - - - no_errors TENM4 HGNC TESK1 7016 genome.wustl.edu 37 9 35607008 35607008 + RNA SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 9 35607008 35607008 G A SNP TESK1 ENST00000467424 human ensembl 70_37 +1 known rna NULL NULL 0.005 - - - no_errors TESK1 HGNC TFAP2B 7021 genome.wustl.edu 37 6 50803853 50803853 + Silent SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 6 50803853 50803853 C T SNP TFAP2B ENST00000263046 human ensembl 70_37 +1 known silent c.708 p.G236 0.999 prints_TF_AP2_beta pfam_TF_AP2_C,prints_TF_AP2_beta,prints_TF_AP2_C - no_errors TFAP2B HGNC TGM3 7053 genome.wustl.edu 37 20 2315844 2315844 + Silent SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 20 2315844 2315844 G C SNP TGM3 ENST00000381458 human ensembl 70_37 +1 known silent c.1725 p.V575 0.965 pfam_Transglutaminase_C,superfamily_Transglutaminase_C pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM3 HGNC THBS3 7059 genome.wustl.edu 37 1 155167918 155167918 + Missense_Mutation SNP A A G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 1 155167918 155167918 A G SNP THBS3 ENST00000368378 human ensembl 70_37 -1 known missense c.2168 p.L723P 1.000 NULL pfam_Thrombospondin_C,pfam_Thbs/COMP_coiled-coil,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom - no_errors THBS3 HGNC TMCO1 54499 genome.wustl.edu 37 1 165738104 165738104 + Missense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 1 165738104 165738104 C G SNP TMCO1 ENST00000367881 human ensembl 70_37 -1 known missense c.38 p.R13T 0.111 NULL pfam_DUF106_TM - no_errors TMCO1 HGNC TMEM120A 83862 genome.wustl.edu 37 7 75616635 75616635 + RNA SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 7 75616635 75616635 G A SNP TMEM120A ENST00000417509 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors TMEM120A HGNC TMEM134 80194 genome.wustl.edu 37 11 67231843 67231843 + RNA SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 11 67231843 67231843 C T SNP TMEM134 ENST00000535813 human ensembl 70_37 -1 known rna NULL NULL 0.520 - - - no_errors TMEM134 HGNC TMEM180 79847 genome.wustl.edu 37 10 104231094 104231094 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 10 104231094 104231094 C T SNP TMEM180 ENST00000238936 human ensembl 70_37 +1 known missense c.769 p.L257F 1.000 superfamily_MFS_dom_general_subst_transpt superfamily_MFS_dom_general_subst_transpt - no_errors TMEM180 HGNC TMEM74 157753 genome.wustl.edu 37 8 109796644 109796644 + Silent SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 8 109796644 109796644 C T SNP TMEM74 ENST00000297459 human ensembl 70_37 -1 known silent c.684 p.L228 1.000 NULL NULL - no_errors TMEM74 HGNC TNIK 23043 genome.wustl.edu 37 3 170858273 170858273 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 3 170858273 170858273 C T SNP TNIK ENST00000436636 human ensembl 70_37 -1 known missense c.1247 p.R416Q 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom - no_errors TNIK HGNC TNRC6C 57690 genome.wustl.edu 37 17 76060847 76060847 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 17 76060847 76060847 G A SNP TNRC6C ENST00000335749 human ensembl 70_37 +1 known missense c.2431 p.E811K 1.000 NULL pfam_Argonaute_hook_dom,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors TNRC6C HGNC TOR3A 64222 genome.wustl.edu 37 1 179054980 179054980 + Silent SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 1 179054980 179054980 C T SNP TOR3A ENST00000367627 human ensembl 70_37 +1 known silent c.591 p.F197 1.000 pfam_Torsin pfam_Torsin - no_errors TOR3A HGNC TOR4A 54863 genome.wustl.edu 37 9 140173663 140173663 + Silent SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 9 140173663 140173663 G C SNP TOR4A ENST00000357503 human ensembl 70_37 +1 known silent c.522 p.L174 1.000 pfam_Torsin pfam_Torsin,smart_AAA+_ATPase - no_errors TOR4A HGNC TPD52L1 7164 genome.wustl.edu 37 6 125541297 125541297 + Silent SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 6 125541297 125541297 C G SNP TPD52L1 ENST00000534000 human ensembl 70_37 +1 known silent c.93 p.L31 0.970 pfam_TPD52 pfam_TPD52 - no_errors TPD52L1 HGNC TPH1 7166 genome.wustl.edu 37 11 18050790 18050790 + Silent SNP A A G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 11 18050790 18050790 A G SNP TPH1 ENST00000341556 human ensembl 70_37 -1 known silent c.589 p.L197 1.000 pfam_Aromatic-AA_hydroxylase_C,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,tigrfam_Trp_5_mOase pfam_Aromatic-AA_hydroxylase_C,pfam_ACT_dom,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Trp_5_mOase - no_errors TPH1 HGNC TPX2 22974 genome.wustl.edu 37 20 30385276 30385276 + Nonsense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 20 30385276 30385276 C T SNP TPX2 ENST00000340513 human ensembl 70_37 +1 known nonsense c.2011 p.Q671* 1.000 NULL pfam_TPX2_importin,pfam_Aurora-A-bd,pfam_Xklp2_targeting_prot - no_errors TPX2 HGNC TREH 11181 genome.wustl.edu 37 11 118531414 118531414 + Silent SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 11 118531414 118531414 G C SNP TREH ENST00000264029 human ensembl 70_37 -1 known silent c.936 p.L312 1.000 pfam_Glyco_hydro_37,superfamily_6-hairpin_glycosidase-like,prints_Glyco_hydro_37 pfam_Glyco_hydro_37,superfamily_6-hairpin_glycosidase-like,prints_Glyco_hydro_37 - no_errors TREH HGNC TRIM29 23650 genome.wustl.edu 37 11 120008473 120008473 + Missense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 11 120008473 120008473 C G SNP TRIM29 ENST00000341846 human ensembl 70_37 -1 known missense c.267 p.K89N 0.997 NULL pfam_Znf_B-box,smart_Znf_B-box,pfscan_Znf_B-box - no_errors TRIM29 HGNC TRIM72 493829 genome.wustl.edu 37 16 31230472 31230472 + Silent SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 16 31230472 31230472 G A SNP TRIM72 ENST00000322122 human ensembl 70_37 +1 known silent c.447 p.K149 1.000 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM72 HGNC TRMT12 55039 genome.wustl.edu 37 8 125463244 125463244 + Missense_Mutation SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 8 125463244 125463244 G C SNP TRMT12 ENST00000328599 human ensembl 70_37 +1 known missense c.76 p.E26Q 1.000 NULL pfam_tRNA_Trfase_Trm5/Tyw2 - no_errors TRMT12 HGNC TROVE2 6738 genome.wustl.edu 37 1 193038217 193038217 + Silent SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 1 193038217 193038217 G A SNP TROVE2 ENST00000367441 human ensembl 70_37 +1 known silent c.33 p.L11 0.986 NULL pfam_TROVE,pfscan_TROVE - no_errors TROVE2 HGNC TRRAP 8295 genome.wustl.edu 37 7 98579413 98579413 + Nonsense_Mutation SNP G G T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 7 98579413 98579413 G T SNP TRRAP ENST00000359863 human ensembl 70_37 +1 known nonsense c.8635 p.E2879* 1.000 pfam_PIK-rel_kinase_FAT,pfscan_PIK_FAT pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors TRRAP HGNC TTBK1 84630 genome.wustl.edu 37 6 43251427 43251427 + Silent SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 6 43251427 43251427 C T SNP TTBK1 ENST00000259750 human ensembl 70_37 +1 known silent c.2949 p.L983 0.000 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 TTBK1 HGNC TTBK1 84630 genome.wustl.edu 37 6 43251852 43251852 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 6 43251852 43251852 C T SNP TTBK1 ENST00000259750 human ensembl 70_37 +1 known missense c.3374 p.S1125L 0.995 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 TTBK1 HGNC TTC40 54777 genome.wustl.edu 37 10 134686181 134686181 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 10 134686181 134686181 G A SNP TTC40 ENST00000368582 human ensembl 70_37 -1 known missense c.4510 p.R1504W 0.036 NULL NULL - no_errors TTC40 HGNC TTN 7273 genome.wustl.edu 37 2 179485706 179485706 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 2 179485706 179485706 C T SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.37927 p.V12643I 0.999 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC TTN 7273 genome.wustl.edu 37 2 179517983 179517983 + Missense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 2 179517983 179517983 C G SNP TTN ENST00000589042 human ensembl 70_37 -1 putative missense c.38773 p.E12925Q 0.194 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_PPAK_motif,pfam_Titin_Z,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,superfamily_ARM-type_fold,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC TUBA1C 84790 genome.wustl.edu 37 12 49663341 49663341 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 12 49663341 49663341 G A SNP TUBA1C ENST00000301072 human ensembl 70_37 +1 known missense c.97 p.D33N 0.997 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,prints_Alpha_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Beta_tubulin,prints_Delta_tubulin - no_errors TUBA1C HGNC TUBE1 51175 genome.wustl.edu 37 6 112397151 112397151 + Silent SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 6 112397151 112397151 G A SNP TUBE1 ENST00000368662 human ensembl 70_37 -1 known silent c.801 p.L267 0.997 superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Epsilon_tubulin,prints_Tubulin - no_errors TUBE1 HGNC UBE2D3 7323 genome.wustl.edu 37 4 103747767 103747767 + RNA SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 4 103747767 103747767 C G SNP UBE2D3 ENST00000513098 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors UBE2D3 HGNC UFD1L 7353 genome.wustl.edu 37 22 19463100 19463100 + Missense_Mutation SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 22 19463100 19463100 G C SNP UFD1L ENST00000263202 human ensembl 70_37 -1 known missense c.29 p.P10R 1.000 NULL pfam_UFD1 - no_errors UFD1L HGNC UNC5C 8633 genome.wustl.edu 37 4 96104152 96104152 + Silent SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 4 96104152 96104152 G A SNP UNC5C ENST00000453304 human ensembl 70_37 -1 known silent c.2347 p.L783 0.993 NULL pfam_ZU5,pfam_Death,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,superfamily_DEATH-like,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like - no_errors UNC5C HGNC UNKL 64718 genome.wustl.edu 37 16 1453237 1453237 + Silent SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 16 1453237 1453237 C T SNP UNKL ENST00000397462 human ensembl 70_37 -1 known silent c.657 p.V219 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors UNKL HGNC UPF1 5976 genome.wustl.edu 37 19 18976551 18976551 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 19 18976551 18976551 G A SNP UPF1 ENST00000599848 human ensembl 70_37 +1 known missense c.3234 p.M1078I 1.000 NULL pfam_RNA-helicase_UPF1_UPF2-interct,pfam_Helicase/UvrB_dom - no_errors UPF1 HGNC USP1 7398 genome.wustl.edu 37 1 62910563 62910563 + Missense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 1 62910563 62910563 C G SNP USP1 ENST00000339950 human ensembl 70_37 +1 known missense c.712 p.H238D 0.006 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP1 HGNC USP21 27005 genome.wustl.edu 37 1 161131810 161131810 + RNA SNP T T G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 1 161131810 161131810 T G SNP USP21 ENST00000487163 human ensembl 70_37 +1 known rna NULL NULL 0.014 - - - no_errors USP21 HGNC USP35 57558 genome.wustl.edu 37 11 77917022 77917022 + Nonsense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 11 77917022 77917022 C G SNP USP35 ENST00000441408 human ensembl 70_37 +1 known nonsense c.86 p.S29* 1.000 pfscan_Peptidase_C19 pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP35 HGNC USP49 25862 genome.wustl.edu 37 6 41771556 41771556 + Missense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 6 41771556 41771556 C G SNP USP49 ENST00000373009 human ensembl 70_37 -1 known missense c.1549 p.D517H 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19 - no_errors USP49 HGNC VIP 7432 genome.wustl.edu 37 6 153073410 153073410 + Missense_Mutation SNP C C A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 6 153073410 153073410 C A SNP VIP ENST00000367244 human ensembl 70_37 +1 known missense c.98 p.S33Y 0.151 NULL pfam_Glucagon_GIP_secretin_VIP,smart_Glucagon_GIP_secretin_VIP - no_errors VIP HGNC VPS13C 54832 genome.wustl.edu 37 15 62173101 62173101 + Silent SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 15 62173101 62173101 G A SNP VPS13C ENST00000261517 human ensembl 70_37 -1 known silent c.9829 p.L3277 0.997 NULL pfam_VPSAP,pfam_Autophagy-rel_C - no_errors VPS13C HGNC VPS53 55275 genome.wustl.edu 37 17 455118 455118 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 17 455118 455118 C T SNP VPS53 ENST00000437048 human ensembl 70_37 -1 known missense c.1860 p.M620I 1.000 NULL pfam_Vps53_N,pfam_Vacuolar_sorting-assoc_54 - no_errors VPS53 HGNC VSIG8 391123 genome.wustl.edu 37 1 159827565 159827565 + Nonsense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 1 159827565 159827565 G A SNP VSIG8 ENST00000368100 human ensembl 70_37 -1 known nonsense c.622 p.Q208* 1.000 pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_sub2,pfscan_Ig-like - no_errors VSIG8 HGNC VWA2 340706 genome.wustl.edu 37 10 116048748 116048748 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 10 116048748 116048748 C T SNP VWA2 ENST00000392982 human ensembl 70_37 +1 known missense c.1622 p.S541L 0.868 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 WAPAL 23063 genome.wustl.edu 37 10 88259793 88259793 + Missense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 10 88259793 88259793 C G SNP WAPAL ENST00000342368 human ensembl 70_37 -1 known missense c.1462 p.D488H 1.000 NULL pfam_WAPL_prot,superfamily_ARM-type_fold - no_errors WAPAL HGNC WDPCP 51057 genome.wustl.edu 37 2 63660922 63660922 + Missense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 2 63660922 63660922 C G SNP WDPCP ENST00000272321 human ensembl 70_37 -1 known missense c.782 p.R261T 1.000 pfam_DUF3312 pfam_DUF3312,superfamily_WD40_repeat_dom - no_errors WDPCP HGNC WDR3 10885 genome.wustl.edu 37 1 118485082 118485082 + Missense_Mutation SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 1 118485082 118485082 G C SNP WDR3 ENST00000349139 human ensembl 70_37 +1 known missense c.1012 p.E338Q 0.996 pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_SSU_processome_Utp12,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR3 HGNC WDR65 149465 genome.wustl.edu 37 1 43647299 43647299 + Silent SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 1 43647299 43647299 C T SNP WDR65 ENST00000528956 human ensembl 70_37 +1 known silent c.252 p.I84 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR65 HGNC WDR87 83889 genome.wustl.edu 37 19 38380843 38380843 + Silent SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 19 38380843 38380843 G C SNP WDR87 ENST00000447313 human ensembl 70_37 -1 known silent c.3468 p.L1156 0.000 superfamily_ARM-type_fold pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Quinolinate_PRibosylTrfase_C,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR87 HGNC WIZ 58525 genome.wustl.edu 37 19 15540852 15540852 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 19 15540852 15540852 C T SNP WIZ ENST00000389282 human ensembl 70_37 -1 known missense c.2645 p.R882Q 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors WIZ HGNC WNT3A 89780 genome.wustl.edu 37 1 228194835 228194835 + Silent SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 1 228194835 228194835 C T SNP WNT3A ENST00000366753 human ensembl 70_37 +1 known silent c.6 p.A2 0.545 NULL pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt3 - no_errors WNT3A HGNC WWC2 80014 genome.wustl.edu 37 4 184169899 184169899 + Missense_Mutation SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 4 184169899 184169899 G C SNP WWC2 ENST00000448232 human ensembl 70_37 +1 known missense c.765 p.L255F 1.000 NULL pfam_WW_Rsp5_WWP,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP - no_errors WWC2 HGNC XIRP2 129446 genome.wustl.edu 37 2 168106692 168106692 + Silent SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 2 168106692 168106692 G A SNP XIRP2 ENST00000295237 human ensembl 70_37 +1 known silent c.8790 p.V2930 0.454 NULL pfam_Actin-binding_Xin_repeat,superfamily_FH2_actin-bd - no_errors XIRP2 HGNC XKR8 55113 genome.wustl.edu 37 1 28293330 28293330 + Silent SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 1 28293330 28293330 C G SNP XKR8 ENST00000373884 human ensembl 70_37 +1 known silent c.807 p.L269 1.000 pfam_Transport_prot_XK pfam_Transport_prot_XK - no_errors XKR8 HGNC XKR8 55113 genome.wustl.edu 37 1 28293345 28293345 + Silent SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 1 28293345 28293345 C T SNP XKR8 ENST00000373884 human ensembl 70_37 +1 known silent c.822 p.F274 1.000 pfam_Transport_prot_XK pfam_Transport_prot_XK - no_errors XKR8 HGNC YWHAQ 10971 genome.wustl.edu 37 2 9770573 9770573 + Missense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 2 9770573 9770573 C G SNP YWHAQ ENST00000238081 human ensembl 70_37 -1 known missense c.9 p.K3N 1.000 superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3 pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3 - no_errors YWHAQ HGNC ZBBX 79740 genome.wustl.edu 37 3 167051682 167051682 + Missense_Mutation SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 3 167051682 167051682 G C SNP ZBBX ENST00000307529 human ensembl 70_37 -1 known missense c.620 p.S207C 0.001 NULL pfam_Znf_B-box - no_errors ZBBX HGNC ZBTB41 360023 genome.wustl.edu 37 1 197128511 197128511 + Missense_Mutation SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 1 197128511 197128511 G C SNP ZBTB41 ENST00000367405 human ensembl 70_37 -1 known missense c.2708 p.S903C 0.958 NULL pfam_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 ZBTB41 HGNC ZC3H14 79882 genome.wustl.edu 37 14 89075708 89075708 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 14 89075708 89075708 C T SNP ZC3H14 ENST00000251038 human ensembl 70_37 +1 known missense c.1966 p.H656Y 1.000 NULL smart_Znf_CCCH - no_errors ZC3H14 HGNC ZCCHC13 389874 genome.wustl.edu 37 X 73524431 73524431 + Missense_Mutation SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 X 73524431 73524431 G C SNP ZCCHC13 ENST00000339534 human ensembl 70_37 +1 known missense c.330 p.Q110H 1.000 pfam_Znf_CCHC,superfamily_Znf_CCHC pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC13 HGNC ZFYVE26 23503 genome.wustl.edu 37 14 68251080 68251080 + Silent SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 14 68251080 68251080 G A SNP ZFYVE26 ENST00000347230 human ensembl 70_37 -1 known silent c.3597 p.L1199 0.998 NULL pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors ZFYVE26 HGNC ZFYVE9 9372 genome.wustl.edu 37 1 52810485 52810485 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 1 52810485 52810485 C T SNP ZFYVE9 ENST00000287727 human ensembl 70_37 +1 known missense c.3985 p.P1329S 1.000 pfam_DUF3480,pirsf_Znf_FYVE_SARA/endofin pfam_DUF3480,pfam_SARA_Smad-bd,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pirsf_Znf_FYVE_SARA/endofin,pfscan_Znf_FYVE-rel - no_errors ZFYVE9 HGNC ZHX3 23051 genome.wustl.edu 37 20 39832880 39832880 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 20 39832880 39832880 C T SNP ZHX3 ENST00000373263 human ensembl 70_37 -1 known missense c.677 p.R226K 0.997 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Homeodomain - no_errors ZHX3 HGNC ZIC1 7545 genome.wustl.edu 37 3 147130364 147130364 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 3 147130364 147130364 G A SNP ZIC1 ENST00000282928 human ensembl 70_37 +1 known missense c.1042 p.D348N 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZIC1 HGNC ZMYM4 9202 genome.wustl.edu 37 1 35853072 35853072 + Silent SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 1 35853072 35853072 C T SNP ZMYM4 ENST00000314607 human ensembl 70_37 +1 known silent c.2130 p.F710 1.000 pfam_Znf_MYM,smart_TRASH pfam_DUF3504,pfam_Znf_MYM,smart_TRASH - no_errors ZMYM4 HGNC ZNF154 7710 genome.wustl.edu 37 19 58214145 58214145 + Nonsense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 19 58214145 58214145 G A SNP ZNF154 ENST00000426889 human ensembl 70_37 -1 known nonsense c.172 p.Q58* 0.002 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF154 HGNC ZNF18 7566 genome.wustl.edu 37 17 11881615 11881615 + Nonsense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 17 11881615 11881615 G A SNP ZNF18 ENST00000322748 human ensembl 70_37 -1 known nonsense c.1309 p.Q437* 0.598 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF18 HGNC ZNF18 7566 genome.wustl.edu 37 17 11881897 11881897 + Missense_Mutation SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 17 11881897 11881897 G C SNP ZNF18 ENST00000322748 human ensembl 70_37 -1 known missense c.1027 p.L343V 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_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF18 HGNC ZNF19 7567 genome.wustl.edu 37 16 71512831 71512831 + Silent SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 16 71512831 71512831 G A SNP ZNF19 ENST00000288177 human ensembl 70_37 -1 known silent c.111 p.A37 1.000 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF19 HGNC ZKSCAN8 7745 genome.wustl.edu 37 6 28121307 28121307 + Nonsense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 6 28121307 28121307 C T SNP ZNF192 ENST00000330236 human ensembl 70_37 +1 known nonsense c.1249 p.Q417* 0.956 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,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_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF192 HGNC ZNF28 7576 genome.wustl.edu 37 19 53304200 53304200 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 19 53304200 53304200 C T SNP ZNF28 ENST00000457749 human ensembl 70_37 -1 known missense c.898 p.E300K 0.019 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF28 HGNC ZNF324 25799 genome.wustl.edu 37 19 58982703 58982703 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 19 58982703 58982703 G A SNP ZNF324 ENST00000196482 human ensembl 70_37 +1 known missense c.844 p.E282K 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF324 HGNC ZNF408 79797 genome.wustl.edu 37 11 46726695 46726695 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 11 46726695 46726695 C T SNP ZNF408 ENST00000311764 human ensembl 70_37 +1 known missense c.1445 p.S482F 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF408 HGNC ZNF470 388566 genome.wustl.edu 37 19 57085838 57085838 + Missense_Mutation SNP A A C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 19 57085838 57085838 A C SNP ZNF470 ENST00000330619 human ensembl 70_37 +1 known missense c.136 p.S46R 0.945 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF470 HGNC ZNF48 197407 genome.wustl.edu 37 16 30409039 30409039 + Silent SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 16 30409039 30409039 C T SNP ZNF48 ENST00000320159 human ensembl 70_37 +1 known silent c.468 p.I156 0.991 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF48 HGNC ZNF483 158399 genome.wustl.edu 37 9 114290024 114290024 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 9 114290024 114290024 C T SNP ZNF483 ENST00000309235 human ensembl 70_37 +1 known missense c.349 p.P117S 0.512 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,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_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF483 HGNC ZNF493 284443 genome.wustl.edu 37 19 21588589 21588589 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 19 21588589 21588589 G A SNP ZNF493 ENST00000596302 human ensembl 70_37 +1 putative missense c.187 p.V63I 0.000 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box - no_errors ZNF493 HGNC ZNF526 116115 genome.wustl.edu 37 19 42729195 42729195 + Missense_Mutation SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 19 42729195 42729195 G C SNP ZNF526 ENST00000301215 human ensembl 70_37 +1 known missense c.640 p.E214Q 1.000 smart_Znf_C2H2-like pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF526 HGNC ZNF608 57507 genome.wustl.edu 37 5 123973360 123973361 + RNA INS - - TA TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 5 123973360 123973361 - TA INS ZNF608 ENST00000513985 human ensembl 70_37 -1 known rna NULL NULL 0.932:0.970 - - - no_errors ZNF608 HGNC ZNF638 27332 genome.wustl.edu 37 2 71635303 71635303 + Silent SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 2 71635303 71635303 C T SNP ZNF638 ENST00000264447 human ensembl 70_37 +1 known silent c.3187 p.L1063 1.000 NULL pfam_RRM_dom,smart_Znf_U1,smart_Znf_C2H2-like,smart_RRM_dom,pfscan_Znf_C2H2_matrin,pfscan_RRM_dom - no_errors ZNF638 HGNC ZNF696 79943 genome.wustl.edu 37 8 144375238 144375238 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 8 144375238 144375238 G A SNP ZNF696 ENST00000521537 human ensembl 70_37 +1 putative missense c.67 p.E23K 0.748 NULL NULL - no_errors ZNF696 HGNC ZNF793 390927 genome.wustl.edu 37 19 38028578 38028578 + Missense_Mutation SNP C C T TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 19 38028578 38028578 C T SNP ZNF793 ENST00000445217 human ensembl 70_37 +1 known missense c.1018 p.R340C 0.006 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF793 HGNC ZNF816-ZNF321P 100529240 genome.wustl.edu 37 19 53431657 53431657 + RNA SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 19 53431657 53431657 C G SNP ZNF816-ZNF321P ENST00000313956 human ensembl 70_37 -1 known rna NULL NULL 0.009 - - - no_errors ZNF816-ZNF321P HGNC ZNF99 7652 genome.wustl.edu 37 19 22941062 22941062 + Missense_Mutation SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 32bcb373-b823-4591-ad69-0f9cb6ce730d d8f4b908-0a83-42da-95e9-434d1d71adb1 19 22941062 22941062 G A SNP ZNF99 ENST00000397104 human ensembl 70_37 -1 known missense c.1376 p.S459L 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF99 HGNC