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_WU start_WU stop_WU reference_WU variant_WU type_WU gene_name_WU transcript_name_WU transcript_species_WU transcript_source_WU transcript_version_WU strand_WU transcript_status_WU trv_type_WU c_position_WU amino_acid_change_WU ucsc_cons_WU domain_WU all_domains_WU deletion_substructures_WU transcript_error_WU default_gene_name_WU gene_name_source_WU ensembl_gene_id normal_ref_reads normal_var_reads normal_vaf tumor_ref_reads tumors_var_reads tumor_vaf EVS_EA EVS_AA EVS_All ALK 0 genome.wustl.edu 37 2 29455275 29455275 + Missense_Mutation SNP C C T TCGA-E2-A1BD-01A-11D-A12Q-09 TCGA-E2-A1BD-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f5ac1986-272b-48d2-9a73-4a550e38a997 dcd144ae-c12f-492f-b5b4-3dd4626e27a4 2 29455275 29455275 C T SNP ALK ENST00000389048 human ensembl 69_37n -1 known missense c.2527 p.G843R 0.998 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_MAM_dom,superfamily_Kinase-like_dom,superfamily_ConA-like_lec_gl,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_MAM_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ALK HGNC ENSG00000171094 136 0 0.00 17 37 68.52 - - - CACNA1A 0 genome.wustl.edu 37 19 13414649 13414649 + Missense_Mutation SNP G G T TCGA-E2-A1BD-01A-11D-A12Q-09 TCGA-E2-A1BD-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f5ac1986-272b-48d2-9a73-4a550e38a997 dcd144ae-c12f-492f-b5b4-3dd4626e27a4 19 13414649 13414649 G T SNP CACNA1A ENST00000360228 human ensembl 69_37n -1 known missense c.2036 p.S679Y 1.000 pfam_Ion_trans_dom,pfam_PKD1_2_channel pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su - no_errors CACNA1A HGNC ENSG00000141837 188 0 0.00 56 45 44.55 - - - CCT8L2 0 genome.wustl.edu 37 22 17071880 17071880 + Missense_Mutation SNP C C T TCGA-E2-A1BD-01A-11D-A12Q-09 TCGA-E2-A1BD-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f5ac1986-272b-48d2-9a73-4a550e38a997 dcd144ae-c12f-492f-b5b4-3dd4626e27a4 22 17071880 17071880 C T SNP CCT8L2 ENST00000359963 human ensembl 69_37n -1 known missense c.1561 p.V521I 0.030 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaperone_TCP-1 - no_errors CCT8L2 HGNC ENSG00000198445 181 0 0.00 49 23 31.94 - - - COMMD5 0 genome.wustl.edu 37 8 146076483 146076483 + Nonsense_Mutation SNP G G A TCGA-E2-A1BD-01A-11D-A12Q-09 TCGA-E2-A1BD-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f5ac1986-272b-48d2-9a73-4a550e38a997 dcd144ae-c12f-492f-b5b4-3dd4626e27a4 8 146076483 146076483 G A SNP COMMD5 ENST00000450361 human ensembl 69_37n -1 known nonsense c.241 p.Q81* 0.786 pfam_HCaRG pfam_HCaRG - no_errors COMMD5 HGNC ENSG00000170619 11 0 0.00 6 4 40.00 - - - DNAH6 0 genome.wustl.edu 37 2 84846872 84846872 + Silent SNP C C T TCGA-E2-A1BD-01A-11D-A12Q-09 TCGA-E2-A1BD-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f5ac1986-272b-48d2-9a73-4a550e38a997 dcd144ae-c12f-492f-b5b4-3dd4626e27a4 2 84846872 84846872 C T SNP DNAH6 ENST00000237449 human ensembl 69_37n +1 known silent c.3636 p.A1212 0.970 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH6 HGNC ENSG00000115423 221 0 0.00 61 73 54.07 - - - ELMO2 0 genome.wustl.edu 37 20 45021747 45021747 + Frame_Shift_Del DEL T T - TCGA-E2-A1BD-01A-11D-A12Q-09 TCGA-E2-A1BD-10A-01D-A12Q-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f5ac1986-272b-48d2-9a73-4a550e38a997 dcd144ae-c12f-492f-b5b4-3dd4626e27a4 20 45021747 45021747 T - DEL ELMO2 ENST00000439931 human ensembl 69_37n -1 known frame_shift_del c.228 p.Q76fs 0.999 NULL pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold - no_errors ELMO2 HGNC ENSG00000062598 270 0 0.00 132 66 33.17 - - - FGF16 0 genome.wustl.edu 37 X 76709703 76709703 + Missense_Mutation SNP C C A TCGA-E2-A1BD-01A-11D-A12Q-09 TCGA-E2-A1BD-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f5ac1986-272b-48d2-9a73-4a550e38a997 dcd144ae-c12f-492f-b5b4-3dd4626e27a4 X 76709703 76709703 C A SNP FGF16 ENST00000439435 human ensembl 69_37n +1 known missense c.56 p.T19N 1.000 pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_IL1_HBGF pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_IL1_HBGF,prints_GF_heparin-bd - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region FGF16 HGNC ENSG00000196468 352 1 0.28 170 126 42.57 - - - GAK 0 genome.wustl.edu 37 4 906526 906526 + Missense_Mutation SNP G G T TCGA-E2-A1BD-01A-11D-A12Q-09 TCGA-E2-A1BD-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f5ac1986-272b-48d2-9a73-4a550e38a997 dcd144ae-c12f-492f-b5b4-3dd4626e27a4 4 906526 906526 G T SNP GAK ENST00000314167 human ensembl 69_37n -1 known missense c.264 p.F88L 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Tensin_phosphatase_C2-dom,pfam_DnaJ_N,superfamily_Kinase-like_dom,superfamily_DnaJ_N,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_DnaJ_N,pfscan_Prot_kinase_cat_dom,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom,pfscan_DnaJ_N - no_errors GAK HGNC ENSG00000178950 240 0 0.00 84 34 28.81 - - - GNAI1 0 genome.wustl.edu 37 7 79818279 79818279 + Missense_Mutation SNP C C T TCGA-E2-A1BD-01A-11D-A12Q-09 TCGA-E2-A1BD-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f5ac1986-272b-48d2-9a73-4a550e38a997 dcd144ae-c12f-492f-b5b4-3dd4626e27a4 7 79818279 79818279 C T SNP GNAI1 ENST00000351004 human ensembl 69_37n +1 known missense c.131 p.S44F 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_alpha_I,prints_Fungi_GproteinA - no_errors GNAI1 HGNC ENSG00000127955 567 0 0.00 225 229 50.44 - - - GP2 0 genome.wustl.edu 37 16 20327362 20327362 + Missense_Mutation SNP A A T TCGA-E2-A1BD-01A-11D-A12Q-09 TCGA-E2-A1BD-10A-01D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f5ac1986-272b-48d2-9a73-4a550e38a997 dcd144ae-c12f-492f-b5b4-3dd4626e27a4 16 20327362 20327362 A T SNP GP2 ENST00000381362 human ensembl 69_37n -1 known missense c.1426 p.S476T 0.997 pfam_Zona_pellucida_Endoglin/CD105,smart_Zona_pellucida_Endoglin/CD105,pfscan_Zona_pellucida_Endoglin/CD105 pfam_Zona_pellucida_Endoglin/CD105,smart_Zona_pellucida_Endoglin/CD105,pfscan_Zona_pellucida_Endoglin/CD105,prints_Endoglin/CD105_subgr - no_errors GP2 HGNC ENSG00000169347 167 0 0.00 78 82 51.25 - - - GRIA3 0 genome.wustl.edu 37 X 122599568 122599568 + Missense_Mutation SNP C C T TCGA-E2-A1BD-01A-11D-A12Q-09 TCGA-E2-A1BD-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f5ac1986-272b-48d2-9a73-4a550e38a997 dcd144ae-c12f-492f-b5b4-3dd4626e27a4 X 122599568 122599568 C T SNP GRIA3 ENST00000264357 human ensembl 69_37n +1 known missense c.2368 p.L790F 1.000 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIA3 HGNC ENSG00000125675 453 0 0.00 156 105 40.23 - - - ITGA11 0 genome.wustl.edu 37 15 68613777 68613777 + Missense_Mutation SNP C C T TCGA-E2-A1BD-01A-11D-A12Q-09 TCGA-E2-A1BD-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f5ac1986-272b-48d2-9a73-4a550e38a997 dcd144ae-c12f-492f-b5b4-3dd4626e27a4 15 68613777 68613777 C T SNP ITGA11 ENST00000315757 human ensembl 69_37n -1 known missense c.2387 p.R796Q 0.002 pfam_Integrin_alpha-2 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 ITGA11 HGNC ENSG00000137809 92 0 0.00 22 7 24.14 - - - KCNA1 0 genome.wustl.edu 37 12 5021915 5021915 + Silent SNP C C T TCGA-E2-A1BD-01A-11D-A12Q-09 TCGA-E2-A1BD-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f5ac1986-272b-48d2-9a73-4a550e38a997 dcd144ae-c12f-492f-b5b4-3dd4626e27a4 12 5021915 5021915 C T SNP KCNA1 ENST00000382545 human ensembl 69_37n +1 known silent c.1371 p.I457 0.984 NULL pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv1.1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv1.3 - no_errors KCNA1 HGNC ENSG00000111262 123 0 0.00 64 12 15.79 - - - MAP1B 0 genome.wustl.edu 37 5 71479590 71479590 + Nonsense_Mutation SNP C C T TCGA-E2-A1BD-01A-11D-A12Q-09 TCGA-E2-A1BD-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f5ac1986-272b-48d2-9a73-4a550e38a997 dcd144ae-c12f-492f-b5b4-3dd4626e27a4 5 71479590 71479590 C T SNP MAP1B ENST00000296755 human ensembl 69_37n +1 known nonsense c.307 p.R103* 1.000 NULL pfam_MAP1B_neuraxin - no_errors MAP1B HGNC ENSG00000131711 267 0 0.00 147 34 18.78 - - - MAP3K1 0 genome.wustl.edu 37 5 56177011 56177014 + Frame_Shift_Del DEL ATAG ATAG - TCGA-E2-A1BD-01A-11D-A12Q-09 TCGA-E2-A1BD-10A-01D-A12Q-09 ATAG ATAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f5ac1986-272b-48d2-9a73-4a550e38a997 dcd144ae-c12f-492f-b5b4-3dd4626e27a4 5 56177011 56177014 ATAG - DEL MAP3K1 ENST00000399503 human ensembl 69_37n +1 novel frame_shift_del c.2281_2284 p.R763fs 0.994:0.998:0.969:1.000 superfamily_ARM-type_fold pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_cat_dom - no_errors MAP3K1 HGNC ENSG00000095015 535 0 0.00 239 148 37.85 - - - MAP3K1 0 genome.wustl.edu 37 5 56179424 56179425 + Frame_Shift_Ins INS - - T TCGA-E2-A1BD-01A-11D-A12Q-09 TCGA-E2-A1BD-10A-01D-A12Q-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f5ac1986-272b-48d2-9a73-4a550e38a997 dcd144ae-c12f-492f-b5b4-3dd4626e27a4 5 56179424 56179425 - T INS MAP3K1 ENST00000399503 human ensembl 69_37n +1 novel frame_shift_ins c.3737_3738 p.Q1247fs 1.000:0.940 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_cat_dom - no_errors MAP3K1 HGNC ENSG00000095015 425 0 0.00 173 102 37.09 - - - MATN4 0 genome.wustl.edu 37 20 43927055 43927055 + Missense_Mutation SNP C C T TCGA-E2-A1BD-01A-11D-A12Q-09 TCGA-E2-A1BD-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f5ac1986-272b-48d2-9a73-4a550e38a997 dcd144ae-c12f-492f-b5b4-3dd4626e27a4 20 43927055 43927055 C T SNP MATN4 ENST00000372754 human ensembl 69_37n -1 known missense c.1304 p.R435H 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_EGF-like_Ca-bd,pfam_Matrilin_coiled-coil_trimer,smart_VWF_A,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_VWF_A - no_errors MATN4 HGNC ENSG00000124159 15 0 0.00 10 5 33.33 - - - MUC5B 0 genome.wustl.edu 37 11 1251822 1251822 + Frame_Shift_Del DEL G G - TCGA-E2-A1BD-01A-11D-A12Q-09 TCGA-E2-A1BD-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f5ac1986-272b-48d2-9a73-4a550e38a997 dcd144ae-c12f-492f-b5b4-3dd4626e27a4 11 1251822 1251822 G - DEL MUC5B ENST00000447027 human ensembl 69_37n +1 known frame_shift_del c.1471 p.D492fs 0.618 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 49 0 0.00 9 2 18.18 - - - PCM1 0 genome.wustl.edu 37 8 17838141 17838141 + Missense_Mutation SNP A A C TCGA-E2-A1BD-01A-11D-A12Q-09 TCGA-E2-A1BD-10A-01D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f5ac1986-272b-48d2-9a73-4a550e38a997 dcd144ae-c12f-492f-b5b4-3dd4626e27a4 8 17838141 17838141 A C SNP PCM1 ENST00000325083 human ensembl 69_37n +1 known missense c.3985 p.K1329Q 1.000 NULL NULL - no_errors PCM1 HGNC ENSG00000078674 232 0 0.00 114 18 13.64 - - - PIK3CA 0 genome.wustl.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A G TCGA-E2-A1BD-01A-11D-A12Q-09 TCGA-E2-A1BD-10A-01D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f5ac1986-272b-48d2-9a73-4a550e38a997 dcd144ae-c12f-492f-b5b4-3dd4626e27a4 3 178952085 178952085 A G SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.3140 p.H1047R 1.000 superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 197 0 0.00 42 60 58.82 - - - PLCB1 0 genome.wustl.edu 37 20 8721040 8721040 + Missense_Mutation SNP G G T TCGA-E2-A1BD-01A-11D-A12Q-09 TCGA-E2-A1BD-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f5ac1986-272b-48d2-9a73-4a550e38a997 dcd144ae-c12f-492f-b5b4-3dd4626e27a4 20 8721040 8721040 G T SNP PLCB1 ENST00000487210 human ensembl 69_37n +1 known missense c.1580 p.C527F 0.144 superfamily_C2_Ca/lipid-bd_dom_CaLB pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLC-beta_C,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_PLC-beta_CS,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region PLCB1 HGNC ENSG00000182621 228 1 0.44 61 56 47.86 - - - RERGL 0 genome.wustl.edu 37 12 18234200 18234200 + Missense_Mutation SNP C C G TCGA-E2-A1BD-01A-11D-A12Q-09 TCGA-E2-A1BD-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f5ac1986-272b-48d2-9a73-4a550e38a997 dcd144ae-c12f-492f-b5b4-3dd4626e27a4 12 18234200 18234200 C G SNP RERGL ENST00000229002 human ensembl 69_37n -1 known missense c.543 p.K181N 1.000 NULL pfam_Small_GTPase,pfam_MIRO-like,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type - no_errors RERGL HGNC ENSG00000111404 302 0 0.00 124 28 18.42 - - - RIMBP2 0 genome.wustl.edu 37 12 130935809 130935809 + Silent SNP C C T TCGA-E2-A1BD-01A-11D-A12Q-09 TCGA-E2-A1BD-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f5ac1986-272b-48d2-9a73-4a550e38a997 dcd144ae-c12f-492f-b5b4-3dd4626e27a4 12 130935809 130935809 C T SNP RIMBP2 ENST00000261655 human ensembl 69_37n -1 known silent c.384 p.P128 0.437 NULL pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain,prints_SH3_domain - no_errors RIMBP2 HGNC ENSG00000060709 62 0 0.00 21 10 32.26 - - - RNASEL 0 genome.wustl.edu 37 1 182554944 182554944 + Missense_Mutation SNP G G T TCGA-E2-A1BD-01A-11D-A12Q-09 TCGA-E2-A1BD-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f5ac1986-272b-48d2-9a73-4a550e38a997 dcd144ae-c12f-492f-b5b4-3dd4626e27a4 1 182554944 182554944 G T SNP RNASEL ENST00000367559 human ensembl 69_37n -1 known missense c.998 p.A333D 0.000 NULL pfam_Ankyrin_rpt,pfam_KEN_RNase_activator,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Ankyrin_rpt-contain_dom,superfamily_Kinase-like_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_PUG-dom,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_cat_dom - no_errors RNASEL HGNC ENSG00000135828 50 0 0.00 63 11 14.86 - - - RNF41 0 genome.wustl.edu 37 12 56601499 56601499 + Missense_Mutation SNP C C T TCGA-E2-A1BD-01A-11D-A12Q-09 TCGA-E2-A1BD-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f5ac1986-272b-48d2-9a73-4a550e38a997 dcd144ae-c12f-492f-b5b4-3dd4626e27a4 12 56601499 56601499 C T SNP RNF41 ENST00000345093 human ensembl 69_37n -1 known missense c.533 p.R178H 1.000 pfam_USP8_interacting pfam_USP8_interacting,pfam_Znf_C3HC4_RING-type,pfam_Ubox_domain,superfamily_TRAF-like,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_SIAH - no_errors RNF41 HGNC ENSG00000181852 403 0 0.00 133 95 41.67 - - - SLC45A1 0 genome.wustl.edu 37 1 8385359 8385359 + Silent SNP A A G TCGA-E2-A1BD-01A-11D-A12Q-09 TCGA-E2-A1BD-10A-01D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f5ac1986-272b-48d2-9a73-4a550e38a997 dcd144ae-c12f-492f-b5b4-3dd4626e27a4 1 8385359 8385359 A G SNP SLC45A1 ENST00000377479 human ensembl 69_37n +1 known silent c.501 p.G167 0.994 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC45A1 HGNC ENSG00000162426 292 1 0.34 179 50 21.83 - - - SYTL5 0 genome.wustl.edu 37 X 37893157 37893157 + Silent SNP A A T TCGA-E2-A1BD-01A-11D-A12Q-09 TCGA-E2-A1BD-10A-01D-A12Q-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f5ac1986-272b-48d2-9a73-4a550e38a997 dcd144ae-c12f-492f-b5b4-3dd4626e27a4 X 37893157 37893157 A T SNP SYTL5 ENST00000456733 human ensembl 69_37n +1 known silent c.15 p.S5 0.004 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 SYTL5 HGNC ENSG00000147041 259 0 0.00 75 52 40.94 - - - UBE3B 0 genome.wustl.edu 37 12 109948241 109948241 + Missense_Mutation SNP C C G TCGA-E2-A1BD-01A-11D-A12Q-09 TCGA-E2-A1BD-10A-01D-A12Q-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f5ac1986-272b-48d2-9a73-4a550e38a997 dcd144ae-c12f-492f-b5b4-3dd4626e27a4 12 109948241 109948241 C G SNP UBE3B ENST00000342494 human ensembl 69_37n +1 known missense c.1834 p.P612A 1.000 NULL pfam_HECT,pfam_IQ_motif_EF-hand-BS,superfamily_HECT,smart_IQ_motif_EF-hand-BS,smart_HECT,pfscan_HECT,pfscan_IQ_motif_EF-hand-BS - no_errors UBE3B HGNC ENSG00000151148 60 0 0.00 15 15 50.00 - - - ZNF250 0 genome.wustl.edu 37 8 146107918 146107918 + Missense_Mutation SNP G G T TCGA-E2-A1BD-01A-11D-A12Q-09 TCGA-E2-A1BD-10A-01D-A12Q-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f5ac1986-272b-48d2-9a73-4a550e38a997 dcd144ae-c12f-492f-b5b4-3dd4626e27a4 8 146107918 146107918 G T SNP ZNF250 ENST00000292579 human ensembl 69_37n -1 known missense c.665 p.T222N 0.999 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 ZNF250 HGNC ENSG00000196150 235 0 0.00 125 37 22.84 - - -