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 ADAMTSL1 0 genome.wustl.edu 37 9 18680349 18680350 + Frame_Shift_Ins INS - - G TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 9 18680349 18680350 - G INS ADAMTSL1 ENST00000327883 human ensembl 69_37n +1 known frame_shift_ins c.1176_1177 p.I395fs 1.000:1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,pfam_ADAM_spacer1,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_Thrombospondin_1_rpt - no_errors ADAMTSL1 HGNC ENSG00000178031 35 0 0.00 34 5 12.82 - - - ADCY10 0 genome.wustl.edu 37 1 167830215 167830215 + Missense_Mutation SNP T T G TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 1 167830215 167830215 T G SNP ADCY10 ENST00000367851 human ensembl 69_37n -1 known missense c.1703 p.D568A 0.582 pirsf_Adenylate_cylcase_typ10 pfam_A/G_cyclase,superfamily_A/G_cyclase,pirsf_Adenylate_cylcase_typ10,pfscan_A/G_cyclase - no_errors ADCY10 HGNC ENSG00000143199 135 0 0.00 261 55 17.41 - - - ALDH2 0 genome.wustl.edu 37 12 112229926 112229927 + Frame_Shift_Ins INS - - G TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 12 112229926 112229927 - G INS ALDH2 ENST00000261733 human ensembl 69_37n +1 known frame_shift_ins c.857_858 p.K289fs 1.000:0.991 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH - no_errors ALDH2 HGNC ENSG00000111275 10 0 0.00 14 3 17.65 - - - ANGPTL6 0 genome.wustl.edu 37 19 10204185 10204186 + Frame_Shift_Ins INS - - C TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 19 10204185 10204186 - C INS ANGPTL6 ENST00000253109 human ensembl 69_37n -1 known frame_shift_ins c.1062_1061 p.R355fs 0.996:1.000 pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C - no_errors ANGPTL6 HGNC ENSG00000130812 17 0 0.00 14 2 12.50 - - - ANKLE1 0 genome.wustl.edu 37 19 17397270 17397271 + Frame_Shift_Ins INS - - G TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 19 17397270 17397271 - G INS ANKLE1 ENST00000404261 human ensembl 69_37n +1 known frame_shift_ins c.1757_1758 p.V588fs 0.997:0.997 NULL pfam_Ankyrin_rpt,pfam_LEM,superfamily_Ankyrin_rpt-contain_dom,superfamily_LEM-like_dom,superfamily_Lactate_DH/Glyco_Ohase_4_C,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_LEM - no_errors ANKLE1 HGNC ENSG00000160117 14 0 0.00 4 2 33.33 - - - AP1S1 0 genome.wustl.edu 37 7 100802404 100802405 + Frame_Shift_Ins INS - - G TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 7 100802404 100802405 - G INS AP1S1 ENST00000337619 human ensembl 69_37n +1 known frame_shift_ins c.356_357 p.D122fs 1.000:1.000 pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_AP_complex_ssu pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_AP_complex_ssu - no_errors AP1S1 HGNC ENSG00000106367 34 0 0.00 81 15 15.62 - - - ARFGEF1 0 genome.wustl.edu 37 8 68128855 68128856 + Frame_Shift_Ins INS - - G TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 8 68128855 68128856 - G INS ARFGEF1 ENST00000262215 human ensembl 69_37n -1 known frame_shift_ins c.4656_4655 p.P1553fs 0.000:0.000 NULL pfam_Sec7,pfam_DUF1981_SEC7_assoc,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7 - no_errors ARFGEF1 HGNC ENSG00000066777 40 0 0.00 58 8 12.12 - - - ARMC9 0 genome.wustl.edu 37 2 232209771 232209772 + Frame_Shift_Ins INS - - C TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 2 232209771 232209772 - C INS ARMC9 ENST00000349938 human ensembl 69_37n +1 known frame_shift_ins c.1963_1964 p.G657fs 1.000:1.000 NULL superfamily_ARM-type_fold,smart_LisH_dimerisation,pfscan_LisH_dimerisation - no_errors ARMC9 HGNC ENSG00000135931 16 0 0.00 18 2 10.00 - - - ATG4A 0 genome.wustl.edu 37 X 107374543 107374543 + Missense_Mutation SNP C C G TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db X 107374543 107374543 C G SNP ATG4A ENST00000372232 human ensembl 69_37n +1 known missense c.247 p.Q83E 1.000 pfam_Peptidase_C54 pfam_Peptidase_C54 - no_errors ATG4A HGNC ENSG00000101844 99 0 0.00 61 17 21.79 - - - B4GALNT1 0 genome.wustl.edu 37 12 58025102 58025103 + Frame_Shift_Ins INS - - C TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 12 58025102 58025103 - C INS B4GALNT1 ENST00000341156 human ensembl 69_37n -1 known frame_shift_ins c.264_263 p.L89fs 0.004:0.099 pirsf_GM2_synthase pfam_Glyco_trans_2,pirsf_GM2_synthase - no_errors B4GALNT1 HGNC ENSG00000135454 41 0 0.00 30 9 23.08 - - - BAX 0 genome.wustl.edu 37 19 49458970 49458971 + Frame_Shift_Ins INS - - G TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 19 49458970 49458971 - G INS BAX ENST00000293288 human ensembl 69_37n +1 known frame_shift_ins c.113_114 p.E41fs 0.585:0.588 NULL pfam_Bcl2_BH,smart_Bcl2_BH,pfscan_Bcl2-like_apoptosis,prints_Bcl2_BH - no_errors BAX HGNC ENSG00000087088 39 0 0.00 23 5 17.86 - - - BBS10 0 genome.wustl.edu 37 12 76740486 76740486 + Missense_Mutation SNP C C G TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 12 76740486 76740486 C G SNP BBS10 ENST00000393262 human ensembl 69_37n -1 known missense c.1279 p.D427H 0.491 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1 - no_errors BBS10 HGNC ENSG00000179941 29 0 0.00 21 9 30.00 - - - BCHE 0 genome.wustl.edu 37 3 165548505 165548505 + Missense_Mutation SNP C C A TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 3 165548505 165548505 C A SNP BCHE ENST00000264381 human ensembl 69_37n -1 known missense c.317 p.G106V 0.999 pfam_CarbesteraseB,prints_Cholinesterase pfam_CarbesteraseB,pfam_AChE_tetra,pfam_AB_hydrolase_3,prints_Cholinesterase - no_errors BCHE HGNC ENSG00000114200 65 0 0.00 31 6 16.22 - - - BCL3 0 genome.wustl.edu 37 19 45262842 45262843 + Frame_Shift_Ins INS - - C TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 19 45262842 45262843 - C INS BCL3 ENST00000164227 human ensembl 69_37n +1 known frame_shift_ins c.1335_1336 p.S447fs 0.755:0.967 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors BCL3 HGNC ENSG00000069399 39 0 0.00 18 2 10.00 - - - BCL9L 0 genome.wustl.edu 37 11 118770651 118770652 + Frame_Shift_Ins INS - - G TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 11 118770651 118770652 - G INS BCL9L ENST00000334801 human ensembl 69_37n -1 known frame_shift_ins c.3381_3380 p.P1128fs 0.988:0.996 NULL pfam_BCL9_beta-catenin-bd_dom - no_errors BCL9L HGNC ENSG00000186174 45 0 0.00 35 5 12.50 - - - BMP1 0 genome.wustl.edu 37 8 22054259 22054260 + Frame_Shift_Ins INS - - C TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 8 22054259 22054260 - C INS BMP1 ENST00000306385 human ensembl 69_37n +1 known frame_shift_ins c.1832_1833 p.N614fs 1.000:1.000 pfam_CUB,superfamily_CUB,smart_CUB,pirsf_BMP_1/tolloid-like,pfscan_CUB pfam_CUB,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd,superfamily_CUB,smart_Peptidase_Metallo,smart_CUB,smart_EGF-like_Ca-bd,smart_EGF-like,pirsf_BMP_1/tolloid-like,prints_Peptidase_M12A,pfscan_CUB,pfscan_EG-like_dom - no_errors BMP1 HGNC ENSG00000168487 33 0 0.00 19 3 13.64 - - - BRCA1 0 genome.wustl.edu 37 17 41256165 41256165 + Nonsense_Mutation SNP G G A TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 17 41256165 41256165 G A SNP BRCA1 ENST00000471181 human ensembl 69_37n -1 known nonsense c.415 p.Q139* 0.003 pirsf_BRCA1 pirsf_BRCA1,pfam_BRCT_dom,pfam_Znf_C3HC4_RING-type,superfamily_BRCT_dom,smart_Znf_RING,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_Znf_RING - no_errors BRCA1 HGNC ENSG00000012048 150 0 0.00 171 55 24.34 - - - BRSK2 0 genome.wustl.edu 37 11 1477639 1477640 + Frame_Shift_Ins INS - - G TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 11 1477639 1477640 - G INS BRSK2 ENST00000382179 human ensembl 69_37n +1 known frame_shift_ins c.1868_1869 p.P626fs 0.998:0.882 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 BRSK2 HGNC ENSG00000174672 28 0 0.00 4 2 33.33 - - - C15orf39 0 genome.wustl.edu 37 15 75499803 75499804 + Frame_Shift_Ins INS - - C TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 15 75499803 75499804 - C INS C15orf39 ENST00000360639 human ensembl 69_37n +1 known frame_shift_ins c.1414_1415 p.A475fs 0.756:0.848 NULL NULL - no_errors C15orf39 HGNC ENSG00000167173 23 0 0.00 5 2 28.57 - - - C17orf47 0 genome.wustl.edu 37 17 56620396 56620396 + Silent SNP G G A TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 17 56620396 56620396 G A SNP C17orf47 ENST00000321691 human ensembl 69_37n -1 known silent c.1152 p.Y384 0.002 NULL NULL - no_errors C17orf47 HGNC ENSG00000181013 153 0 0.00 179 30 14.29 - - - C21orf58 0 genome.wustl.edu 37 21 47734733 47734734 + Frame_Shift_Ins INS - - AT TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 21 47734733 47734734 - AT INS C21orf58 ENST00000291691 human ensembl 69_37n -1 known frame_shift_ins c.506_505 p.A169fs 0.003:0.000 NULL NULL - no_errors C21orf58 HGNC ENSG00000160298 14 0 0.00 3 5 62.50 - - - C2orf65 0 genome.wustl.edu 37 2 74802647 74802647 + Missense_Mutation SNP C C T TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 2 74802647 74802647 C T SNP C2orf65 ENST00000290536 human ensembl 69_37n -1 known missense c.992 p.R331K 1.000 NULL NULL - no_errors C2orf65 HGNC ENSG00000159374 57 0 0.00 62 9 12.68 - - - C3 0 genome.wustl.edu 37 19 6697480 6697481 + Frame_Shift_Ins INS - - G TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 19 6697480 6697481 - G INS C3 ENST00000245907 human ensembl 69_37n -1 known frame_shift_ins c.2671_2670 p.K890fs 0.022:0.014 NULL pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_Netrin_module_non-TIMP,pfam_A2M_N_2,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain,prints_Anaphylatoxn - no_errors C3 HGNC ENSG00000125730 48 0 0.00 41 6 12.77 - - - C3orf32 0 genome.wustl.edu 37 3 8672537 8672537 + Missense_Mutation SNP T T G TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 3 8672537 8672537 T G SNP C3orf32 ENST00000544814 human ensembl 69_37n -1 known missense c.479 p.Q160P 1.000 NULL superfamily_HSP_DnaJ_Cys-rich_dom - no_errors C3orf32 HGNC ENSG00000125046 64 0 0.00 33 7 17.50 - - - C6orf222 0 genome.wustl.edu 37 6 36291139 36291139 + Silent SNP G G T TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 6 36291139 36291139 G T SNP C6orf222 ENST00000437635 human ensembl 69_37n -1 known silent c.1402 p.R468 0.092 NULL NULL - no_errors C6orf222 HGNC ENSG00000189325 46 0 0.00 58 20 25.64 - - - CACUL1 0 genome.wustl.edu 37 10 120514109 120514110 + Frame_Shift_Ins INS - - C TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 10 120514109 120514110 - C INS CACUL1 ENST00000369151 human ensembl 69_37n -1 known frame_shift_ins c.166_165 p.Q55fs 0.987:0.711 NULL pfam_Cullin_N,superfamily_Cullin_repeat-like_dom - no_errors CACUL1 HGNC ENSG00000151893 11 0 0.00 7 3 30.00 - - - CCDC153 0 genome.wustl.edu 37 11 119061042 119061043 + Frame_Shift_Ins INS - - G TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 11 119061042 119061043 - G INS CCDC153 ENST00000415318 human ensembl 69_37n -1 known frame_shift_ins c.600_599 p.G201fs 1.000:1.000 NULL superfamily_t-SNARE - no_errors CCDC153 HGNC ENSG00000248712 37 0 0.00 48 9 15.79 - - - CEACAM4 0 genome.wustl.edu 37 19 42133319 42133320 + Frame_Shift_Ins INS - - G TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 19 42133319 42133320 - G INS CEACAM4 ENST00000221954 human ensembl 69_37n -1 known frame_shift_ins c.13_12 p.S4fs 0.021:0.019 NULL pfam_Ig_V-set,pfscan_Ig-like - no_errors CEACAM4 HGNC ENSG00000105352 30 0 0.00 23 3 11.54 - - - CNOT3 0 genome.wustl.edu 37 19 54649666 54649667 + Frame_Shift_Ins INS - - C TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 19 54649666 54649667 - C INS CNOT3 ENST00000221232 human ensembl 69_37n +1 known frame_shift_ins c.724_725 p.P244fs 1.000:1.000 pirsf_CCR4-NOT_su3/5 pfam_Not_N,pfam_NOT,pirsf_CCR4-NOT_su3/5 - no_errors CNOT3 HGNC ENSG00000088038 47 0 0.00 139 21 13.12 - - - CNTNAP5 0 genome.wustl.edu 37 2 125671838 125671838 + Silent SNP C C T TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 2 125671838 125671838 C T SNP CNTNAP5 ENST00000431078 human ensembl 69_37n +1 known silent c.3894 p.S1298 1.000 NULL pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EGF-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP5 HGNC ENSG00000155052 72 0 0.00 109 21 16.15 - - - COL16A1 0 genome.wustl.edu 37 1 32133775 32133776 + Frame_Shift_Ins INS - - G TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 1 32133775 32133776 - G INS COL16A1 ENST00000271069 human ensembl 69_37n -1 known frame_shift_ins c.3294_3293 p.G1099fs 0.539:0.989 pfam_Collagen pfam_Collagen,superfamily_ConA-like_lec_gl,smart_Laminin_G - no_errors COL16A1 HGNC ENSG00000084636 28 0 0.00 13 2 13.33 - - - COL8A1 0 genome.wustl.edu 37 3 99514754 99514755 + Frame_Shift_Ins INS - - G TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 3 99514754 99514755 - G INS COL8A1 ENST00000261037 human ensembl 69_37n +1 known frame_shift_ins c.2009_2010 p.N673fs 1.000:1.000 pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q pfam_Collagen,pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q - no_errors COL8A1 HGNC ENSG00000144810 27 0 0.00 17 3 15.00 - - - COL9A2 0 genome.wustl.edu 37 1 40770036 40770037 + Frame_Shift_Ins INS - - G TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 1 40770036 40770037 - G INS COL9A2 ENST00000372748 human ensembl 69_37n -1 known frame_shift_ins c.1243_1242 p.G414fs 1.000:0.001 pfam_Collagen pfam_Collagen - no_errors COL9A2 HGNC ENSG00000049089 34 0 0.00 27 3 10.00 - - - COLQ 0 genome.wustl.edu 37 3 15518687 15518688 + Frame_Shift_Ins INS - - G TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 3 15518687 15518688 - G INS COLQ ENST00000383788 human ensembl 69_37n -1 known frame_shift_ins c.411_410 p.G138fs 0.973:1.000 pfam_Collagen pfam_Collagen,tigrfam_Myxo_disulph_rpt - no_errors COLQ HGNC ENSG00000206561 33 0 0.00 12 3 20.00 - - - CROCCP2 0 genome.wustl.edu 37 1 16950063 16950063 + RNA SNP C C A TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 1 16950063 16950063 C A SNP CROCCP2 ENST00000421700 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors CROCCP2 HGNC ENSG00000215908 9 0 0.00 2 4 66.67 - - - DAAM1 0 genome.wustl.edu 37 14 59730208 59730208 + Missense_Mutation SNP A A C TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 14 59730208 59730208 A C SNP DAAM1 ENST00000351081 human ensembl 69_37n +1 known missense c.13 p.K5Q 1.000 NULL pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,superfamily_tRNA-bd_arm,smart_Actin-bd_FH2/DRF_autoreg - no_errors DAAM1 HGNC ENSG00000100592 51 0 0.00 119 22 15.60 - - - DFFB 0 genome.wustl.edu 37 1 3775374 3775375 + Frame_Shift_Ins INS - - T TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 1 3775374 3775375 - T INS DFFB ENST00000378209 human ensembl 69_37n +1 known frame_shift_ins c.207_208 p.V69fs 0.017:0.019 pfam_CAD,smart_CAD,pfscan_CAD pfam_Apoptosis_DFF40,pfam_CAD,smart_CAD,pfscan_CAD - no_errors DFFB HGNC ENSG00000169598 26 0 0.00 24 19 44.19 - - - DMXL2 0 genome.wustl.edu 37 15 51791403 51791403 + Missense_Mutation SNP G G T TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 15 51791403 51791403 G T SNP DMXL2 ENST00000543779 human ensembl 69_37n -1 known missense c.4018 p.L1340I 0.985 NULL pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL2 HGNC ENSG00000104093 29 0 0.00 23 7 23.33 - - - DNM3 0 genome.wustl.edu 37 1 172356293 172356293 + Silent SNP C C T TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 1 172356293 172356293 C T SNP DNM3 ENST00000358155 human ensembl 69_37n +1 known silent c.2079 p.S693 0.004 pfam_GED,smart_GED pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,pfam_Pleckstrin_homology,smart_Dynamin_GTPase,smart_Pleckstrin_homology,smart_GED,pfscan_Pleckstrin_homology,prints_Dynamin - no_errors DNM3 HGNC ENSG00000197959 47 0 0.00 37 5 11.90 - - - DPH2 0 genome.wustl.edu 37 1 44435938 44435938 + Nonsense_Mutation SNP G G T TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 1 44435938 44435938 G T SNP DPH2 ENST00000255108 human ensembl 69_37n +1 known nonsense c.91 p.G31* 0.779 tigrfam_DHP2_eu pfam_DPH1/DPH2,tigrfam_DPH1/DPH2,tigrfam_DHP2_eu - no_errors DPH2 HGNC ENSG00000132768 42 0 0.00 42 7 14.29 - - - DUOX2 0 genome.wustl.edu 37 15 45387138 45387138 + Missense_Mutation SNP A A C TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 15 45387138 45387138 A C SNP DUOX2 ENST00000389039 human ensembl 69_37n -1 known missense c.4391 p.M1464R 1.000 pfam_Fe_red_NAD-bd_6 pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF-hand,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_Ca-bd,prints_Haem_peroxidase_animal_subgr,prints_Recoverin,pfscan_EF_HAND_2,pfscan_Haem_peroxidase_animal - no_errors DUOX2 HGNC ENSG00000140279 44 0 0.00 60 14 18.92 - - - ECE1 0 genome.wustl.edu 37 1 21551856 21551856 + Missense_Mutation SNP C C T TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 1 21551856 21551856 C T SNP ECE1 ENST00000374893 human ensembl 69_37n -1 known missense c.1927 p.E643K 0.995 pfam_Peptidase_M13_C pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors ECE1 HGNC ENSG00000117298 58 0 0.00 25 5 16.67 - - - ELAVL3 0 genome.wustl.edu 37 19 11577604 11577605 + Frame_Shift_Ins INS - - C TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 19 11577604 11577605 - C INS ELAVL3 ENST00000359227 human ensembl 69_37n -1 known frame_shift_ins c.48_47 p.A18fs 1.000:1.000 NULL pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF - no_errors ELAVL3 HGNC ENSG00000196361 53 0 0.00 96 16 14.29 - - - ENGASE 0 genome.wustl.edu 37 17 77081356 77081357 + Frame_Shift_Ins INS - - CC TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 17 77081356 77081357 - CC INS ENGASE ENST00000579016 human ensembl 69_37n +1 known frame_shift_ins c.1632_1633 p.T546fs 1.000:1.000 NULL pfam_Glyco_hydro_85,pfscan_BRCT_dom - no_errors ENGASE HGNC ENSG00000167280 21 0 0.00 12 2 14.29 - - - EPC1 0 genome.wustl.edu 37 10 32576120 32576120 + Missense_Mutation SNP G G T TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 10 32576120 32576120 G T SNP EPC1 ENST00000263062 human ensembl 69_37n -1 known missense c.1058 p.P353H 1.000 NULL pfam_Enhancer_polycomb_C,pfam_Enhancer_polycomb-like_N - no_errors EPC1 HGNC ENSG00000120616 89 0 0.00 73 14 16.09 - - - EPHX4 0 genome.wustl.edu 37 1 92511121 92511122 + Frame_Shift_Ins INS - - G TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 1 92511121 92511122 - G INS EPHX4 ENST00000370383 human ensembl 69_37n +1 known frame_shift_ins c.508_509 p.M173fs 1.000:1.000 pfam_AB_hydrolase_1,prints_Epox_hydrolase-like,prints_AB_hydrolase_1 pfam_AB_hydrolase_1,prints_Epox_hydrolase-like,prints_AB_hydrolase_1 - no_errors EPHX4 HGNC ENSG00000172031 64 0 0.00 106 16 13.11 - - - FAM135B 0 genome.wustl.edu 37 8 139164094 139164095 + Frame_Shift_Ins INS - - C TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 8 139164094 139164095 - C INS FAM135B ENST00000395297 human ensembl 69_37n -1 known frame_shift_ins c.2624_2623 p.T875fs 1.000:0.979 NULL pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like - no_errors FAM135B HGNC ENSG00000147724 57 0 0.00 84 56 40.00 - - - FAM21A 0 genome.wustl.edu 37 10 51853633 51853633 + Missense_Mutation SNP C C T TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 10 51853633 51853633 C T SNP FAM21A ENST00000282633 human ensembl 69_37n +1 known missense c.1136 p.T379M 0.370 NULL NULL - no_errors FAM21A HGNC ENSG00000099290 8 0 0.00 7 7 46.67 - - - FAM50A 0 genome.wustl.edu 37 X 153674884 153674884 + Frame_Shift_Del DEL T T - TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db X 153674884 153674884 T - DEL FAM50A ENST00000393600 human ensembl 69_37n +1 known frame_shift_del c.418 p.Y140fs 0.031 pfam_XAP5 pfam_XAP5 - no_errors FAM50A HGNC ENSG00000071859 54 0 0.00 16 2 11.11 - - - FAM83E 0 genome.wustl.edu 37 19 49104544 49104545 + Frame_Shift_Ins INS - - C TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 19 49104544 49104545 - C INS FAM83E ENST00000263266 human ensembl 69_37n -1 known frame_shift_ins c.1259_1258 p.E420fs 0.103:0.098 NULL pfam_DUF1669,superfamily_Acyl_CoA_acyltransferase - no_errors FAM83E HGNC ENSG00000105523 15 0 0.00 8 2 20.00 - - - FBN3 0 genome.wustl.edu 37 19 8193948 8193949 + Frame_Shift_Ins INS - - G TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 19 8193948 8193949 - G INS FBN3 ENST00000270509 human ensembl 69_37n -1 known frame_shift_ins c.2260_2259 p.G753fs 1.000:0.646 pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like,pirsf_Fibrillin,pfscan_EG-like_dom pfam_EGF-like_Ca-bd,pfam_TB_dom,pfam_EGF-like_dom,superfamily_TB_dom,smart_EGF-like,smart_EGF-like_Ca-bd,pirsf_Fibrillin,pfscan_EG-like_dom - no_errors FBN3 HGNC ENSG00000142449 26 0 0.00 36 5 12.20 - - - FBXW10 0 genome.wustl.edu 37 17 18675985 18675985 + Missense_Mutation SNP A A G TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 17 18675985 18675985 A G SNP FBXW10 ENST00000308799 human ensembl 69_37n +1 known missense c.2354 p.K785R 0.001 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors FBXW10 HGNC ENSG00000171931 24 0 0.00 26 7 21.21 - - - FBXW9 0 genome.wustl.edu 37 19 12800973 12800974 + Frame_Shift_Ins INS - - C TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 19 12800973 12800974 - C INS FBXW9 ENST00000380339 human ensembl 69_37n -1 known frame_shift_ins c.925_924 p.P308fs 0.001:0.002 superfamily_WD40_repeat_dom pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW9 HGNC ENSG00000132004 21 0 0.00 78 10 11.36 - - - FLT3LG 0 genome.wustl.edu 37 19 49982165 49982166 + Frame_Shift_Ins INS - - C TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 19 49982165 49982166 - C INS FLT3LG ENST00000204637 human ensembl 69_37n +1 known frame_shift_ins c.344_343 p.S118fs 1.000:1.000 pfam_Flt3_lig,superfamily_4_helix_cytokine-like_core pfam_Flt3_lig,superfamily_4_helix_cytokine-like_core - no_errors FLT3LG HGNC ENSG00000090554 16 0 0.00 20 3 13.04 - - - FN3K 0 genome.wustl.edu 37 17 80708457 80708458 + Frame_Shift_Ins INS - - G TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 17 80708457 80708458 - G INS FN3K ENST00000300784 human ensembl 69_37n +1 known frame_shift_ins c.756_757 p.F254fs 0.961:1.000 pfam_Fructo-/Ketosamine-3-kinase,pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom,pirsf_Fructo-/Ketosamine-3-kinase pfam_Fructo-/Ketosamine-3-kinase,pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom,pirsf_Fructo-/Ketosamine-3-kinase - no_errors FN3K HGNC ENSG00000167363 13 0 0.00 18 2 10.00 - - - GALNT7 0 genome.wustl.edu 37 4 174169248 174169248 + Missense_Mutation SNP T T A TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 4 174169248 174169248 T A SNP GALNT7 ENST00000265000 human ensembl 69_37n +1 known missense c.244 p.L82I 1.000 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT7 HGNC ENSG00000109586 23 0 0.00 17 5 22.73 - - - GATA1 0 genome.wustl.edu 37 X 48652249 48652249 + Missense_Mutation SNP G G A TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db X 48652249 48652249 G A SNP GATA1 ENST00000376670 human ensembl 69_37n +1 known missense c.920 p.R307H 1.000 pirsf_TF_GATA-1/2/3 pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA - no_errors GATA1 HGNC ENSG00000102145 18 0 0.00 33 8 19.51 - - - GBP7 0 genome.wustl.edu 37 1 89630532 89630532 + Missense_Mutation SNP A A T TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 1 89630532 89630532 A T SNP GBP7 ENST00000294671 human ensembl 69_37n -1 known missense c.200 p.L67Q 0.173 pfam_Guanylate-bd_N pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C - no_errors GBP7 HGNC ENSG00000213512 42 0 0.00 68 15 18.07 - - - GCAT 0 genome.wustl.edu 37 22 38212267 38212267 + Frame_Shift_Del DEL C C - TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 22 38212267 38212267 C - DEL GCAT ENST00000248924 human ensembl 69_37n +1 known frame_shift_del c.1047 p.P350fs 1.000 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_2am3keto_CoA_ligase pfam_Aminotransferase_I/II,pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_2am3keto_CoA_ligase - no_errors GCAT HGNC ENSG00000100116 15 0 0.00 7 2 22.22 - - - GPR83 0 genome.wustl.edu 37 11 94113625 94113625 + Missense_Mutation SNP C C T TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 11 94113625 94113625 C T SNP GPR83 ENST00000243673 human ensembl 69_37n -1 known missense c.962 p.R321H 0.862 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors GPR83 HGNC ENSG00000123901 45 0 0.00 53 14 20.90 - - - GRINA 0 genome.wustl.edu 37 8 145065456 145065457 + Frame_Shift_Ins INS - - G TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 8 145065456 145065457 - G INS GRINA ENST00000313269 human ensembl 69_37n +1 known frame_shift_ins c.65_66 p.P25fs 1.000:0.997 NULL pfam_Bax_inhibitor_1-related - no_errors GRINA HGNC ENSG00000178719 15 0 0.00 16 2 11.11 - - - HDAC4 0 genome.wustl.edu 37 2 240066378 240066378 + Silent SNP G G A TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 2 240066378 240066378 G A SNP HDAC4 ENST00000345617 human ensembl 69_37n -1 known silent c.766 p.L256 1.000 pirsf_Histone_deAcase_II_euk pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pfam_Arb2_domain,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse - no_errors HDAC4 HGNC ENSG00000068024 48 0 0.00 32 10 23.81 - - - HGS 0 genome.wustl.edu 37 17 79660569 79660570 + Frame_Shift_Ins INS - - C TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 17 79660569 79660570 - C INS HGS ENST00000329138 human ensembl 69_37n +1 known frame_shift_ins c.699_700 p.E235fs 1.000:1.000 pirsf_Ubi-bd_Hrs_VPS27 pfam_VHS,pfam_HRS_helical,pfam_Znf_FYVE,superfamily_ENTH_VHS,superfamily_Znf_FYVE_PHD,smart_VHS_subgr,smart_Znf_FYVE,pirsf_Ubi-bd_Hrs_VPS27,pfscan_Ubiquitin-int_motif,pfscan_VHS,pfscan_Znf_FYVE-rel - no_errors HGS HGNC ENSG00000185359 17 0 0.00 5 2 28.57 - - - IGFLR1 0 genome.wustl.edu 37 19 36231931 36231932 + Frame_Shift_Ins INS - - G TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 19 36231931 36231932 - G INS IGFLR1 ENST00000246532 human ensembl 69_37n -1 known frame_shift_ins c.151_150 p.C50fs 0.000:0.000 NULL superfamily_DEATH-like - no_errors IGFLR1 HGNC ENSG00000126246 27 0 0.00 11 2 15.38 - - - IQCC 0 genome.wustl.edu 37 1 32673442 32673443 + Frame_Shift_Ins INS - - G TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 1 32673442 32673443 - G INS IQCC ENST00000537469 human ensembl 69_37n +1 known frame_shift_ins c.1400_1401 p.P470fs 0.258:0.332 NULL pfscan_IQ_motif_EF-hand-BS - no_errors IQCC HGNC ENSG00000160051 20 0 0.00 9 3 25.00 - - - IRS4 0 genome.wustl.edu 37 X 107977802 107977803 + Frame_Shift_Ins INS - - C TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db X 107977802 107977803 - C INS IRS4 ENST00000372129 human ensembl 69_37n -1 known frame_shift_ins c.1773_1772 p.K592fs 0.031:0.016 NULL pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1 - no_errors IRS4 HGNC ENSG00000133124 72 0 0.00 58 11 15.94 - - - JPH4 0 genome.wustl.edu 37 14 24040435 24040436 + Frame_Shift_Ins INS - - C TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 14 24040435 24040436 - C INS JPH4 ENST00000356300 human ensembl 69_37n -1 known frame_shift_ins c.1505_1504 p.A502fs 0.051:0.057 pirsf_Junctophilin pfam_MORN,smart_MORN,pirsf_Junctophilin - no_errors JPH4 HGNC ENSG00000092051 11 0 0.00 37 8 17.78 - - - KERA 0 genome.wustl.edu 37 12 91445255 91445255 + Silent SNP C C T TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 12 91445255 91445255 C T SNP KERA ENST00000266719 human ensembl 69_37n -1 known silent c.927 p.L309 0.075 NULL pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors KERA HGNC ENSG00000139330 47 0 0.00 17 11 39.29 - - - KIAA0913 0 genome.wustl.edu 37 10 75560463 75560464 + Frame_Shift_Ins INS - - C TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 10 75560463 75560464 - C INS KIAA0913 ENST00000398706 human ensembl 69_37n +1 known frame_shift_ins c.5092_5093 p.Y1701fs 1.000:1.000 NULL pfscan_Znf_SWIM - no_errors KIAA0913 HGNC ENSG00000214655 66 0 0.00 61 9 12.86 - - - KIAA1731 0 genome.wustl.edu 37 11 93433116 93433117 + Frame_Shift_Ins INS - - C TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 11 93433116 93433117 - C INS KIAA1731 ENST00000411936 human ensembl 69_37n +1 known frame_shift_ins c.5038_5039 p.S1683fs 0.000:0.000 NULL NULL - no_errors KIAA1731 HGNC ENSG00000166004 72 0 0.00 60 7 10.45 - - - KIF5A 0 genome.wustl.edu 37 12 57975304 57975304 + Silent SNP C C T TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 12 57975304 57975304 C T SNP KIF5A ENST00000455537 human ensembl 69_37n +1 known silent c.2862 p.Y954 1.000 NULL pfam_Kinesin_motor_dom,superfamily_Prefoldin,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF5A HGNC ENSG00000155980 35 0 0.00 55 21 27.63 - - - KLRC1 0 genome.wustl.edu 37 12 10603569 10603569 + Missense_Mutation SNP C C A TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 12 10603569 10603569 C A SNP KLRC1 ENST00000359151 human ensembl 69_37n -1 known missense c.187 p.D63Y 0.888 pfam_Herpes_UL45-like pfam_C-type_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors KLRC1 HGNC ENSG00000134545 139 0 0.00 63 13 17.11 - - - LARP1 0 genome.wustl.edu 37 5 154173389 154173390 + Frame_Shift_Ins INS - - C TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 5 154173389 154173390 - C INS LARP1 ENST00000336314 human ensembl 69_37n +1 known frame_shift_ins c.667_668 p.T226fs 0.998:0.999 NULL pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,smart_DM15,pfscan_Lupus_La_RNA-bd - no_errors LARP1 HGNC ENSG00000155506 20 0 0.00 13 3 18.75 - - - LIMK1 0 genome.wustl.edu 37 7 73535322 73535323 + Frame_Shift_Ins INS - - C TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 7 73535322 73535323 - C INS LIMK1 ENST00000336180 human ensembl 69_37n +1 known frame_shift_ins c.1724_1725 p.S578fs 1.000:1.000 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,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_Znf_LIM,pfam_PDZ,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,superfamily_PDZ,smart_Znf_LIM,smart_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_LIM,pfscan_PDZ,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors LIMK1 HGNC ENSG00000106683 32 0 0.00 22 3 12.00 - - - LPHN1 0 genome.wustl.edu 37 19 14263249 14263249 + Missense_Mutation SNP C C G TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 19 14263249 14263249 C G SNP LPHN1 ENST00000340736 human ensembl 69_37n -1 known missense c.3536 p.G1179A 1.000 pfam_GPCR_2_latrophilin_rcpt_C pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like - no_errors LPHN1 HGNC ENSG00000072071 72 0 0.00 41 9 18.00 - - - LRP1 0 genome.wustl.edu 37 12 57574482 57574482 + Missense_Mutation SNP G G A TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 12 57574482 57574482 G A SNP LRP1 ENST00000243077 human ensembl 69_37n +1 known missense c.5419 p.E1807K 1.000 smart_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd,smart_EGF-like,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP1 HGNC ENSG00000123384 47 0 0.00 22 8 26.67 - - - LRP10 0 genome.wustl.edu 37 14 23346239 23346240 + Frame_Shift_Ins INS - - G TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 14 23346239 23346240 - G INS LRP10 ENST00000359591 human ensembl 69_37n +1 known frame_shift_ins c.1645_1646 p.R551fs 1.000:1.000 NULL pfam_LDrepeatLR_classA_rpt,pfam_CUB,superfamily_CUB,superfamily_LDrepeatLR_classA_rpt,smart_CUB,smart_LDrepeatLR_classA_rpt,pfscan_CUB,pfscan_LDrepeatLR_classA_rpt - no_errors LRP10 HGNC ENSG00000197324 23 0 0.00 8 2 20.00 - - - LRTM1 0 genome.wustl.edu 37 3 54952915 54952916 + Frame_Shift_Ins INS - - C TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 3 54952915 54952916 - C INS LRTM1 ENST00000273286 human ensembl 69_37n -1 known frame_shift_ins c.609_608 p.L204fs 0.887:1.000 smart_Cys-rich_flank_reg_C pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRTM1 HGNC ENSG00000144771 26 0 0.00 17 2 10.53 - - - MAGED2 0 genome.wustl.edu 37 X 54836184 54836184 + Silent SNP G G T TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db X 54836184 54836184 G T SNP MAGED2 ENST00000218439 human ensembl 69_37n +1 known silent c.75 p.S25 0.000 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGED2 HGNC ENSG00000102316 76 0 0.00 148 44 22.92 - - - MAP1A 0 genome.wustl.edu 37 15 43822051 43822052 + Frame_Shift_Ins INS - - G TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 15 43822051 43822052 - G INS MAP1A ENST00000399453 human ensembl 69_37n +1 known frame_shift_ins c.8239_8240 p.E2749fs 1.000:1.000 NULL NULL - no_errors MAP1A HGNC ENSG00000166963 18 0 0.00 24 3 11.11 - - - MAP1B 0 genome.wustl.edu 37 5 71495076 71495077 + Frame_Shift_Ins INS - - C TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 5 71495076 71495077 - C INS MAP1B ENST00000296755 human ensembl 69_37n +1 known frame_shift_ins c.5894_5895 p.E1968fs 0.926:0.932 pfam_MAP1B_neuraxin pfam_MAP1B_neuraxin - no_errors MAP1B HGNC ENSG00000131711 22 0 0.00 15 4 21.05 - - - MAPRE3 0 genome.wustl.edu 37 2 27248516 27248517 + Frame_Shift_Ins INS - - C TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 2 27248516 27248517 - C INS MAPRE3 ENST00000233121 human ensembl 69_37n +1 known frame_shift_ins c.535_536 p.C182fs 0.999:1.000 NULL pfam_EB1_C,pfam_CH-domain,superfamily_CH-domain,pfscan_CH-domain - no_errors MAPRE3 HGNC ENSG00000084764 30 0 0.00 38 7 15.56 - - - MED13 0 genome.wustl.edu 37 17 60023924 60023924 + Missense_Mutation SNP T T C TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 17 60023924 60023924 T C SNP MED13 ENST00000397786 human ensembl 69_37n -1 known missense c.6430 p.T2144A 1.000 pfam_Mediator_Med13 pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun - no_errors MED13 HGNC ENSG00000108510 50 0 0.00 32 20 38.46 - - - METTL20 0 genome.wustl.edu 37 12 31820847 31820847 + Missense_Mutation SNP G G A TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 12 31820847 31820847 G A SNP METTL20 ENST00000357721 human ensembl 69_37n +1 known missense c.712 p.E238K 0.965 NULL pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Nicotinamide_N-MeTfrase-like - no_errors METTL20 HGNC ENSG00000139160 40 0 0.00 36 7 16.28 - - - MMP25 0 genome.wustl.edu 37 16 3100449 3100450 + Frame_Shift_Ins INS - - G TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 16 3100449 3100450 - G INS MMP25 ENST00000336577 human ensembl 69_37n +1 known frame_shift_ins c.563_564 p.T191fs 0.011:0.021 pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin pfam_Pept_M10_metallopeptidase,pfam_Hemopexin/matrixin_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin - no_errors MMP25 HGNC ENSG00000008516 24 0 0.00 9 2 18.18 - - - MPRIP 0 genome.wustl.edu 37 17 17046885 17046886 + Frame_Shift_Ins INS - - C TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 17 17046885 17046886 - C INS MPRIP ENST00000395811 human ensembl 69_37n +1 known frame_shift_ins c.1051_1052 p.A354fs 0.999:0.999 NULL pfam_Pleckstrin_homology,superfamily_Ferritin/RR-like,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors MPRIP HGNC ENSG00000133030 26 0 0.00 11 2 15.38 - - - MYOF 0 genome.wustl.edu 37 10 95093659 95093659 + Missense_Mutation SNP C C G TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 10 95093659 95093659 C G SNP MYOF ENST00000463743 human ensembl 69_37n -1 known missense c.2756 p.G919A 0.151 superfamily_C2_Ca/lipid-bd_dom_CaLB pfam_Ferlin_B-domain,pfam_C2_Ca-dep,pfam_Ferlin_A-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Peroxin/Ferlin,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region MYOF HGNC ENSG00000138119 26 0 0.00 28 8 22.22 - - - NKTR 0 genome.wustl.edu 37 3 42679035 42679036 + Frame_Shift_Ins INS - - C TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 3 42679035 42679036 - C INS NKTR ENST00000232978 human ensembl 69_37n +1 known frame_shift_ins c.1839_1840 p.S616fs 0.992:1.000 NULL pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom - no_errors NKTR HGNC ENSG00000114857 25 0 0.00 24 4 14.29 - - - NOL7 0 genome.wustl.edu 37 6 13620991 13620992 + Frame_Shift_Ins INS - - AA TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 6 13620991 13620992 - AA INS NOL7 ENST00000451315 human ensembl 69_37n +1 known frame_shift_ins c.706_707 p.Q239fs 0.542:0.993 NULL pfam_NUC129 - no_errors NOL7 HGNC ENSG00000225921 30 0 0.00 17 2 10.53 - - - NOVA1 0 genome.wustl.edu 37 14 26917796 26917796 + Missense_Mutation SNP G G T TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 14 26917796 26917796 G T SNP NOVA1 ENST00000539517 human ensembl 69_37n -1 known missense c.893 p.A298E 1.000 NULL pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors NOVA1 HGNC ENSG00000139910 55 0 0.00 47 9 16.07 - - - NRXN2 0 genome.wustl.edu 37 11 64457918 64457919 + Frame_Shift_Ins INS - - C TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 11 64457918 64457919 - C INS NRXN2 ENST00000265459 human ensembl 69_37n -1 known frame_shift_ins c.809_808 p.A270fs 1.000:1.000 NULL pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_EGF-like,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN2 HGNC ENSG00000110076 42 0 0.00 173 33 16.02 - - - NUP93 0 genome.wustl.edu 37 16 56782199 56782199 + Missense_Mutation SNP G G A TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 16 56782199 56782199 G A SNP NUP93 ENST00000308159 human ensembl 69_37n +1 known missense c.40 p.E14K 1.000 NULL pfam_Nucleoporin_int_Nup93/Nic96 - no_errors NUP93 HGNC ENSG00000102900 26 0 0.00 20 6 23.08 - - - OR10G4 0 genome.wustl.edu 37 11 123886720 123886720 + Missense_Mutation SNP A A G TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 11 123886720 123886720 A G SNP OR10G4 ENST00000320891 human ensembl 69_37n +1 known missense c.439 p.T147A 0.267 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR10G4 HGNC ENSG00000254737 63 0 0.00 70 21 23.08 - - - OR56A1 0 genome.wustl.edu 37 11 6048395 6048395 + Silent SNP G G A TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 11 6048395 6048395 G A SNP OR56A1 ENST00000316650 human ensembl 69_37n -1 known silent c.540 p.V180 0.373 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR56A1 HGNC ENSG00000180934 33 0 0.00 41 8 16.33 - - - OR5M1 0 genome.wustl.edu 37 11 56380428 56380428 + Missense_Mutation SNP A A G TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 11 56380428 56380428 A G SNP OR5M1 ENST00000526538 human ensembl 69_37n -1 known missense c.551 p.L184P 0.006 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR5M1 HGNC ENSG00000255012 31 0 0.00 52 19 26.76 - - - OTUD6B 0 genome.wustl.edu 37 8 92082559 92082559 + Missense_Mutation SNP C C T TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 8 92082559 92082559 C T SNP OTUD6B ENST00000285420 human ensembl 69_37n +1 known missense c.37 p.P13S 0.000 NULL pfam_OTU,pfam_Peptidase_C65_otubain,pfscan_OTU - no_errors OTUD6B HGNC ENSG00000155100 144 1 0.68 163 49 23.11 - - - OXER1 0 genome.wustl.edu 37 2 42990217 42990218 + Frame_Shift_Ins INS - - C TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 2 42990217 42990218 - C INS OXER1 ENST00000378661 human ensembl 69_37n -1 known frame_shift_ins c.1103_1102 p.A368fs 0.307:0.263 NULL pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn - no_errors OXER1 HGNC ENSG00000162881 40 0 0.00 12 2 14.29 - - - P2RX5 0 genome.wustl.edu 37 17 3583076 3583076 + Frame_Shift_Del DEL C C - TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 17 3583076 3583076 C - DEL P2RX5 ENST00000435558 human ensembl 69_37n -1 known frame_shift_del c.1067 p.G356fs 0.072 pfam_P2X_purnocptor pfam_P2X_purnocptor,prints_P2X_purnocptor,prints_P2X5_purnocptor,tigrfam_P2X_purnocptor - no_errors P2RX5 HGNC ENSG00000083454 13 0 0.00 7 2 22.22 - - - PAK6 0 genome.wustl.edu 37 15 40566446 40566447 + Frame_Shift_Ins INS - - C TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 15 40566446 40566447 - C INS PAK6 ENST00000260404 human ensembl 69_37n +1 known frame_shift_ins c.1847_1848 p.P619fs 1.000:1.000 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_PAK_box_Rho-bd,superfamily_Kinase-like_dom,smart_PAK_box_Rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_PAK_box_Rho-bd,pfscan_Prot_kinase_cat_dom - no_errors PAK6 HGNC ENSG00000137843 21 0 0.00 5 2 28.57 - - - PARP14 0 genome.wustl.edu 37 3 122399783 122399784 + Frame_Shift_Ins INS - - C TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 3 122399783 122399784 - C INS PARP14 ENST00000474629 human ensembl 69_37n +1 known frame_shift_ins c.53_54 p.K21fs 0.667:0.319 NULL pfam_A1pp,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_WWE-dom,smart_A1pp,pfscan_A1pp,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP14 HGNC ENSG00000173193 11 0 0.00 14 3 17.65 - - - PCDHGC3 0 genome.wustl.edu 37 5 140857258 140857258 + Frame_Shift_Del DEL A A - TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 5 140857258 140857258 A - DEL PCDHGC3 ENST00000308177 human ensembl 69_37n +1 known frame_shift_del c.1575 p.D526fs 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGC3 HGNC ENSG00000240184 21 0 0.00 6 2 25.00 - - - PDZRN4 0 genome.wustl.edu 37 12 41967163 41967163 + Missense_Mutation SNP C C A TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 12 41967163 41967163 C A SNP PDZRN4 ENST00000402685 human ensembl 69_37n +1 known missense c.2582 p.S861Y 0.998 NULL pfam_PDZ,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING - no_errors PDZRN4 HGNC ENSG00000165966 31 0 0.00 29 7 19.44 - - - PHACTR1 0 genome.wustl.edu 37 6 13206134 13206135 + Frame_Shift_Ins INS - - G TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 6 13206134 13206135 - G INS PHACTR1 ENST00000432934 human ensembl 69_37n +1 known frame_shift_ins c.959_960 p.P323fs 0.246:0.087 NULL pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat - no_errors PHACTR1 HGNC ENSG00000112137 17 0 0.00 37 5 11.90 - - - PI4K2A 0 genome.wustl.edu 37 10 99361620 99361621 + Frame_Shift_Ins INS - - G TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 10 99361620 99361621 - G INS PI4K2A ENST00000555577 human ensembl 69_37n +1 known frame_shift_ins c.218_219 p.V76fs 1.000:0.996 NULL pfam_PI3/4_kinase_cat_dom - no_errors PI4K2A HGNC ENSG00000155252 13 0 0.00 25 4 13.79 - - - PIK3CB 0 genome.wustl.edu 37 3 138413709 138413710 + Frame_Shift_Ins INS - - G TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 3 138413709 138413710 - G INS PIK3CB ENST00000289153 human ensembl 69_37n -1 known frame_shift_ins c.1811_1810 p.R604fs 0.981:0.240 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_adapt-bd_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,superfamily_Kinase-like_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_ARM-type_fold,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 PIK3CB HGNC ENSG00000051382 32 0 0.00 29 4 12.12 - - - PKP1 0 genome.wustl.edu 37 1 201291149 201291149 + Missense_Mutation SNP G G A TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 1 201291149 201291149 G A SNP PKP1 ENST00000263946 human ensembl 69_37n +1 known missense c.1454 p.R485H 1.000 superfamily_ARM-type_fold pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors PKP1 HGNC ENSG00000081277 44 0 0.00 34 4 10.53 - - - PLEKHD1 0 genome.wustl.edu 37 14 69967307 69967308 + Frame_Shift_Ins INS - - G TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 14 69967307 69967308 - G INS PLEKHD1 ENST00000322564 human ensembl 69_37n +1 known frame_shift_ins c.257_258 p.C89fs 1.000:0.994 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHD1 HGNC ENSG00000175985 44 0 0.00 17 2 10.53 - - - PLEKHH1 0 genome.wustl.edu 37 14 68046566 68046566 + Frame_Shift_Del DEL G G - TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 14 68046566 68046566 G - DEL PLEKHH1 ENST00000329153 human ensembl 69_37n +1 known frame_shift_del c.3156 p.E1053fs 1.000 smart_Band_41_domain,pfscan_FERM_domain 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 ENSG00000054690 20 0 0.00 13 2 13.33 - - - PLN 0 genome.wustl.edu 37 6 118880141 118880141 + Missense_Mutation SNP A A C TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 6 118880141 118880141 A C SNP PLN ENST00000357525 human ensembl 69_37n +1 known missense c.57 p.E19D 1.000 pfam_P_lamban,pirsf_P_lamban,tigrfam_P_lamban pfam_P_lamban,pirsf_P_lamban,tigrfam_P_lamban - no_errors PLN HGNC ENSG00000198523 87 0 0.00 74 23 23.47 - - - PLSCR3 0 genome.wustl.edu 37 17 7294058 7294059 + Frame_Shift_Ins INS - - C TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 17 7294058 7294059 - C INS PLSCR3 ENST00000324822 human ensembl 69_37n -1 known frame_shift_ins c.726_725 p.L243fs 0.637:1.000 pfam_Scramblase,superfamily_Tubby_C-like pfam_Scramblase,superfamily_Tubby_C-like - no_errors PLSCR3 HGNC ENSG00000187838 34 0 0.00 24 3 11.11 - - - POLR3E 0 genome.wustl.edu 37 16 22337509 22337510 + Frame_Shift_Ins INS - - C TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 16 22337509 22337510 - C INS POLR3E ENST00000299853 human ensembl 69_37n +1 known frame_shift_ins c.1776_1777 p.G594fs 0.991:1.000 NULL pfam_RNA_pol_III_Rpc5 - no_errors POLR3E HGNC ENSG00000058600 18 0 0.00 15 3 16.67 - - - POTEF 0 genome.wustl.edu 37 2 130832873 130832873 + Silent SNP G G A TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 2 130832873 130832873 G A SNP POTEF ENST00000357462 human ensembl 69_37n -1 known silent c.2172 p.D724 1.000 pfam_Actin-like,smart_Actin-like pfam_Actin-like,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-like,prints_Actin-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors POTEF HGNC ENSG00000196604 40 0 0.00 25 3 10.71 - - - PPIL2 0 genome.wustl.edu 37 22 22051065 22051065 + Frame_Shift_Del DEL T T - TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 22 22051065 22051065 T - DEL PPIL2 ENST00000456792 human ensembl 69_37n +1 known frame_shift_del c.1432 p.S479fs 0.001 NULL pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom - no_errors PPIL2 HGNC ENSG00000100023 24 0 0.00 9 2 18.18 - - - PPM1F 0 genome.wustl.edu 37 22 22279889 22279889 + Frame_Shift_Del DEL C C - TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 22 22279889 22279889 C - DEL PPM1F ENST00000397495 human ensembl 69_37n -1 novel frame_shift_del c.1038 p.R346fs 0.019 smart_PP2C-like pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like - no_errors PPM1F HGNC ENSG00000100034 19 0 0.00 12 15 53.57 - - - PPP6R2 0 genome.wustl.edu 37 22 50873471 50873472 + Frame_Shift_Ins INS - - G TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 22 50873471 50873472 - G INS PPP6R2 ENST00000216061 human ensembl 69_37n +1 known frame_shift_ins c.1477_1478 p.V496fs 1.000:1.000 pfam_SAPS pfam_SAPS,superfamily_ARM-type_fold - no_errors PPP6R2 HGNC ENSG00000100239 20 0 0.00 16 2 11.11 - - - PRDM14 0 genome.wustl.edu 37 8 70964468 70964468 + Missense_Mutation SNP C C G TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 8 70964468 70964468 C G SNP PRDM14 ENST00000276594 human ensembl 69_37n -1 known missense c.1560 p.K520N 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM14 HGNC ENSG00000147596 44 0 0.00 70 14 16.67 - - - PTCH2 0 genome.wustl.edu 37 1 45288193 45288194 + Frame_Shift_Ins INS - - G TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 1 45288193 45288194 - G INS PTCH2 ENST00000372192 human ensembl 69_37n -1 known frame_shift_ins c.3506_3505 p.L1169fs 0.924:0.616 NULL pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched - no_errors PTCH2 HGNC ENSG00000117425 26 0 0.00 16 3 15.79 - - - RAB40C 0 genome.wustl.edu 37 16 677579 677580 + Frame_Shift_Ins INS - - C TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 16 677579 677580 - C INS RAB40C ENST00000248139 human ensembl 69_37n +1 known frame_shift_ins c.803_804 p.Q271fs 1.000:1.000 NULL pfam_Small_GTPase,pfam_MIRO-like,pfam_SOCS_C,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,smart_SOCS_C,prints_Small_GTPase,pfscan_SOCS_C,tigrfam_Small_GTP-bd_dom - no_errors RAB40C HGNC ENSG00000197562 42 0 0.00 8 2 20.00 - - - RIN1 0 genome.wustl.edu 37 11 66102471 66102472 + Frame_Shift_Ins INS - - G TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 11 66102471 66102472 - G INS RIN1 ENST00000311320 human ensembl 69_37n -1 known frame_shift_ins c.799_798 p.V266fs 0.390:0.002 NULL pfam_VPS9,pfam_Ras-assoc,smart_SH2,smart_VPS9_subgr,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SH2,pfscan_VPS9 - no_errors RIN1 HGNC ENSG00000174791 19 0 0.00 23 3 11.54 - - - RPS6KA5 0 genome.wustl.edu 37 14 91338524 91338524 + Missense_Mutation SNP G G C TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 14 91338524 91338524 G C SNP RPS6KA5 ENST00000261991 human ensembl 69_37n -1 known missense c.2303 p.S768C 1.000 superfamily_Kinase-like_dom,pirsf_Ribosomal_S6_kinase_II pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_Aminoglycoside_PTrfase,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_AGC-kinase_C,smart_Tyr_kinase_cat_dom,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom - no_errors RPS6KA5 HGNC ENSG00000100784 109 0 0.00 63 9 12.50 - - - RTL1 0 genome.wustl.edu 37 14 101350009 101350010 + Frame_Shift_Ins INS - - G TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 14 101350009 101350010 - G INS RTL1 ENST00000534062 human ensembl 69_37n -1 known frame_shift_ins c.1117_1116 p.E372fs 0.018:0.004 NULL pfam_Retrotrans_gag,superfamily_Peptidase_aspartic - no_errors RTL1 HGNC ENSG00000254656 25 0 0.00 11 2 15.38 - - - SAMD9L 0 genome.wustl.edu 37 7 92763785 92763785 + Frame_Shift_Del DEL G G - TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 7 92763785 92763785 G - DEL SAMD9L ENST00000318238 human ensembl 69_37n -1 known frame_shift_del c.1500 p.R501fs 0.194 NULL superfamily_SAM/pointed,pfscan_SAM - no_errors SAMD9L HGNC ENSG00000177409 38 0 0.00 32 7 17.95 - - - SAP130 0 genome.wustl.edu 37 2 128712831 128712831 + Missense_Mutation SNP C C A TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 2 128712831 128712831 C A SNP SAP130 ENST00000357702 human ensembl 69_37n -1 known missense c.2229 p.Q743H 1.000 NULL NULL - no_errors SAP130 HGNC ENSG00000136715 135 1 0.74 271 32 10.53 - - - SDK2 0 genome.wustl.edu 37 17 71394281 71394282 + Frame_Shift_Ins INS - - G TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 17 71394281 71394282 - G INS SDK2 ENST00000392650 human ensembl 69_37n -1 known frame_shift_ins c.3247_3246 p.S1082fs 1.000:1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors SDK2 HGNC ENSG00000069188 22 0 0.00 15 4 21.05 - - - SEC16B 0 genome.wustl.edu 37 1 177927332 177927333 + Frame_Shift_Ins INS - - G TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 1 177927332 177927333 - G INS SEC16B ENST00000308284 human ensembl 69_37n -1 known frame_shift_ins c.1300_1299 p.S433fs 0.033:0.033 NULL NULL - no_errors SEC16B Clone_based_vega_gene ENSG00000120341 20 0 0.00 9 3 25.00 - - - SHISA9 0 genome.wustl.edu 37 16 13329129 13329129 + Missense_Mutation SNP C C T TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 16 13329129 13329129 C T SNP SHISA9 ENST00000558583 human ensembl 69_37n +1 known missense c.1261 p.R421W 1.000 NULL NULL - no_errors SHISA9 HGNC ENSG00000237515 32 0 0.00 99 43 30.28 - - - SIGLEC7 0 genome.wustl.edu 37 19 51647820 51647820 + Silent SNP C C A TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 19 51647820 51647820 C A SNP SIGLEC7 ENST00000317643 human ensembl 69_37n +1 known silent c.591 p.T197 0.000 smart_Ig_sub,pfscan_Ig-like pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors SIGLEC7 HGNC ENSG00000168995 19 0 0.00 21 5 19.23 - - - SIL1 0 genome.wustl.edu 37 5 138282853 138282854 + Frame_Shift_Del DEL GG GG - TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 GG GG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 5 138282853 138282854 GG - DEL SIL1 ENST00000265195 human ensembl 69_37n -1 known frame_shift_del c.1339_1338 p.F446fs 0.974:0.994 NULL superfamily_ARM-type_fold - no_errors SIL1 HGNC ENSG00000120725 16 0 0.00 9 5 33.33 - - - SIL1 0 genome.wustl.edu 37 5 138282858 138282859 + Frame_Shift_Ins INS - - G TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 5 138282858 138282859 - G INS SIL1 ENST00000265195 human ensembl 69_37n -1 known frame_shift_ins c.1334_1333 p.Y445fs 1.000:1.000 NULL superfamily_ARM-type_fold - no_errors SIL1 HGNC ENSG00000120725 18 0 0.00 9 6 40.00 - - - SPATA2L 0 genome.wustl.edu 37 16 89764584 89764585 + Frame_Shift_Ins INS - - G TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 16 89764584 89764585 - G INS SPATA2L ENST00000289805 human ensembl 69_37n -1 known frame_shift_ins c.433_432 p.A144fs 0.864:0.008 NULL NULL - no_errors SPATA2L HGNC ENSG00000158792 12 0 0.00 4 2 33.33 - - - SPTBN5 0 genome.wustl.edu 37 15 42164624 42164624 + Frame_Shift_Del DEL A A - TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 15 42164624 42164624 A - DEL SPTBN5 ENST00000320955 human ensembl 69_37n -1 known frame_shift_del c.5041 p.S1681fs 0.965 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 ENSG00000137877 34 0 0.00 4 2 33.33 - - - SREBF2 0 genome.wustl.edu 37 22 42271636 42271637 + Frame_Shift_Ins INS - - C TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 22 42271636 42271637 - C INS SREBF2 ENST00000361204 human ensembl 69_37n +1 known frame_shift_ins c.1294_1295 p.A435fs 1.000:1.000 NULL pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd - no_errors SREBF2 HGNC ENSG00000198911 30 0 0.00 53 7 11.67 - - - STAT6 0 genome.wustl.edu 37 12 57499093 57499094 + Frame_Shift_Ins INS - - G TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 12 57499093 57499094 - G INS STAT6 ENST00000300134 human ensembl 69_37n -1 known frame_shift_ins c.842_841 p.Q281fs 1.000:1.000 pfam_STAT_TF_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2 - no_errors STAT6 HGNC ENSG00000166888 26 0 0.00 20 4 16.67 - - - STC2 0 genome.wustl.edu 37 5 172745090 172745090 + Frame_Shift_Del DEL G G - TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 5 172745090 172745090 G - DEL STC2 ENST00000265087 human ensembl 69_37n -1 known frame_shift_del c.669 p.E224fs 0.000 NULL pfam_Stanniocalcin - no_errors STC2 HGNC ENSG00000113739 23 0 0.00 14 2 12.50 - - - SUN1 0 genome.wustl.edu 37 7 891092 891092 + Missense_Mutation SNP G G T TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 7 891092 891092 G T SNP SUN1 ENST00000456758 human ensembl 69_37n +1 known missense c.1297 p.A433S 0.000 NULL pfam_RNA-bd_mt,pfam_Sad1_UNC_C - no_errors SUN1 HGNC ENSG00000164828 73 0 0.00 23 32 58.18 - - - TEX15 0 genome.wustl.edu 37 8 30705420 30705420 + Missense_Mutation SNP G G C TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 8 30705420 30705420 G C SNP TEX15 ENST00000256246 human ensembl 69_37n -1 known missense c.1114 p.Q372E 0.000 NULL NULL - no_errors TEX15 HGNC ENSG00000133863 131 0 0.00 65 16 19.75 - - - TMEM132A 0 genome.wustl.edu 37 11 60695117 60695118 + Frame_Shift_Ins INS - - C TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 11 60695117 60695118 - C INS TMEM132A ENST00000005286 human ensembl 69_37n +1 known frame_shift_ins c.320_321 p.R110fs 0.997:0.924 NULL NULL - no_errors TMEM132A HGNC ENSG00000006118 25 0 0.00 8 2 20.00 - - - TMEM132B 0 genome.wustl.edu 37 12 125834575 125834576 + Frame_Shift_Ins INS - - G TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 12 125834575 125834576 - G INS TMEM132B ENST00000299308 human ensembl 69_37n +1 known frame_shift_ins c.630_631 p.T212fs 0.964:0.995 NULL NULL - no_errors TMEM132B HGNC ENSG00000139364 17 0 0.00 15 2 11.76 - - - TRIP12 0 genome.wustl.edu 37 2 230679028 230679028 + Missense_Mutation SNP T T A TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 2 230679028 230679028 T A SNP TRIP12 ENST00000283943 human ensembl 69_37n -1 known missense c.1601 p.Q534L 1.000 superfamily_ARM-type_fold pfam_HECT,superfamily_HECT,superfamily_ARM-type_fold,smart_HECT,pfscan_HECT,pfscan_WWE-dom - no_errors TRIP12 HGNC ENSG00000153827 44 0 0.00 35 4 10.26 - - - TSC22D1 0 genome.wustl.edu 37 13 45008837 45008838 + Frame_Shift_Ins INS - - G TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 13 45008837 45008838 - G INS TSC22D1 ENST00000458659 human ensembl 69_37n -1 known frame_shift_ins c.3147_3146 p.A1050fs 0.997:1.000 NULL pfam_TSC-22_Dip_Bun - no_errors TSC22D1 HGNC ENSG00000102804 18 0 0.00 33 6 15.38 - - - TUBGCP6 0 genome.wustl.edu 37 22 50664338 50664339 + Frame_Shift_Ins INS - - G TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 22 50664338 50664339 - G INS TUBGCP6 ENST00000248846 human ensembl 69_37n -1 known frame_shift_ins c.1868_1867 p.R623fs 0.996:0.996 pfam_Spc97_Spc98 pfam_Spc97_Spc98 - no_errors TUBGCP6 HGNC ENSG00000128159 34 0 0.00 15 2 11.76 - - - TYK2 0 genome.wustl.edu 37 19 10463112 10463113 + Frame_Shift_Ins INS - - G TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 19 10463112 10463113 - G INS TYK2 ENST00000264818 human ensembl 69_37n -1 known frame_shift_ins c.3316_3315 p.T1105fs 0.001:0.001 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 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,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_Prot_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_TYK2_N - no_errors TYK2 HGNC ENSG00000105397 29 0 0.00 20 3 13.04 - - - USP54 0 genome.wustl.edu 37 10 75290088 75290088 + Missense_Mutation SNP G G T TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 10 75290088 75290088 G T SNP USP54 ENST00000424265 human ensembl 69_37n -1 known missense c.1033 p.P345T 0.002 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region USP54 HGNC ENSG00000166348 97 0 0.00 89 15 14.42 - - - WDTC1 0 genome.wustl.edu 37 1 27621107 27621108 + Frame_Shift_Ins INS - - G TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 1 27621107 27621108 - G INS WDTC1 ENST00000319394 human ensembl 69_37n +1 known frame_shift_ins c.860_861 p.E290fs 1.000:1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,smart_TPR_repeat,pfscan_TPR-contain_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDTC1 HGNC ENSG00000142784 24 0 0.00 32 7 17.95 - - - ZBP1 0 genome.wustl.edu 37 20 56186796 56186797 + Frame_Shift_Ins INS - - G TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 20 56186796 56186797 - G INS ZBP1 ENST00000343535 human ensembl 69_37n -1 known frame_shift_ins c.861_860 p.G288fs 0.000:0.000 NULL pfam_dsRNA_A_deaminase,smart_dsRNA_A_deaminase - no_errors ZBP1 HGNC ENSG00000124256 20 0 0.00 13 2 13.33 - - - ZC3H12B 0 genome.wustl.edu 37 X 64722292 64722293 + Frame_Shift_Ins INS - - G TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db X 64722292 64722293 - G INS ZC3H12B ENST00000338957 human ensembl 69_37n +1 known frame_shift_ins c.1714_1715 p.V574fs 0.985:0.018 NULL pfam_RNase_Zc3h12 - no_errors ZC3H12B HGNC ENSG00000102053 28 0 0.00 18 2 10.00 - - - ZC3H18 0 genome.wustl.edu 37 16 88691140 88691141 + Frame_Shift_Ins INS - - C TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 16 88691140 88691141 - C INS ZC3H18 ENST00000301011 human ensembl 69_37n +1 known frame_shift_ins c.2029_2030 p.R680fs 0.978:0.568 NULL smart_Znf_CCCH - no_errors ZC3H18 HGNC ENSG00000158545 28 0 0.00 8 2 20.00 - - - ZFHX4 0 genome.wustl.edu 37 8 77617546 77617547 + Frame_Shift_Ins INS - - G TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 8 77617546 77617547 - G INS ZFHX4 ENST00000521891 human ensembl 69_37n +1 known frame_shift_ins c.1223_1224 p.L411fs 1.000:1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 24 0 0.00 31 5 13.89 - - - ZSWIM2 0 genome.wustl.edu 37 2 187702201 187702201 + Missense_Mutation SNP A A G TCGA-E9-A1NC-01A-12W-A16L-09 TCGA-E9-A1NC-10A-01D-A159-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2ba4c398-b94b-49f8-bb88-9d0cb3347d2c ebb77710-bd6f-435d-83c5-2600f9e422db 2 187702201 187702201 A G SNP ZSWIM2 ENST00000295131 human ensembl 69_37n -1 known missense c.575 p.L192S 1.000 smart_Znf_RING,pfscan_Znf_RING pfam_Znf_SWIM,pfam_Znf_ZZ,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Znf_ZZ - no_errors ZSWIM2 HGNC ENSG00000163012 61 0 0.00 79 18 18.56 - - -