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 ABCA6 0 genome.wustl.edu 37 17 67077227 67077227 + Missense_Mutation SNP G G A TCGA-A8-A07L-01A-11W-A019-09 TCGA-A8-A07L-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4cc86f29-061e-4058-8e8f-4c48191f52aa 44a4c963-3b68-4537-a0da-e47fe5f1d7ac 17 67077227 67077227 G A SNP ABCA6 ENST00000284425 human ensembl 69_37n -1 known missense c.4676 p.T1559I 1.000 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA6 HGNC ENSG00000154262 627 0 0.00 679 231 25.36 - - - ACSBG1 0 genome.wustl.edu 37 15 78485847 78485847 + Splice_Site SNP C C A TCGA-A8-A07L-01A-11W-A019-09 TCGA-A8-A07L-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4cc86f29-061e-4058-8e8f-4c48191f52aa 44a4c963-3b68-4537-a0da-e47fe5f1d7ac 15 78485847 78485847 C A SNP ACSBG1 ENST00000258873 human ensembl 69_37n -1 known splice_site c.663+1 e5+1 0.947 - - - no_errors ACSBG1 HGNC ENSG00000103740 47 0 0.00 26 11 29.73 - - - ADCY9 0 genome.wustl.edu 37 16 4163947 4163947 + Missense_Mutation SNP G G C TCGA-A8-A07L-01A-11W-A019-09 TCGA-A8-A07L-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4cc86f29-061e-4058-8e8f-4c48191f52aa 44a4c963-3b68-4537-a0da-e47fe5f1d7ac 16 4163947 4163947 G C SNP ADCY9 ENST00000294016 human ensembl 69_37n -1 known missense c.1497 p.I499M 1.000 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY9 HGNC ENSG00000162104 31 0 0.00 21 18 46.15 - - - AP3M2 0 genome.wustl.edu 37 8 42012278 42012278 + Missense_Mutation SNP A A G TCGA-A8-A07L-01A-11W-A019-09 TCGA-A8-A07L-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4cc86f29-061e-4058-8e8f-4c48191f52aa 44a4c963-3b68-4537-a0da-e47fe5f1d7ac 8 42012278 42012278 A G SNP AP3M2 ENST00000174653 human ensembl 69_37n +1 known missense c.73 p.S25G 1.000 pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_Clathrin_mu,prints_Clathrin_mu pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C,prints_Clathrin_mu - no_errors AP3M2 HGNC ENSG00000070718 61 0 0.00 68 21 23.60 - - - ARHGEF15 0 genome.wustl.edu 37 17 8224297 8224298 + Frame_Shift_Ins INS - - C TCGA-A8-A07L-01A-11W-A019-09 TCGA-A8-A07L-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4cc86f29-061e-4058-8e8f-4c48191f52aa 44a4c963-3b68-4537-a0da-e47fe5f1d7ac 17 8224297 8224298 - C INS ARHGEF15 ENST00000361926 human ensembl 69_37n +1 known frame_shift_ins c.2512_2513 p.P841fs 0.000:0.001 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF15 HGNC ENSG00000198844 33 0 0.00 31 4 11.43 - - - ARID1B 0 genome.wustl.edu 37 6 157527623 157527623 + Missense_Mutation SNP A A C TCGA-A8-A07L-01A-11W-A019-09 TCGA-A8-A07L-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4cc86f29-061e-4058-8e8f-4c48191f52aa 44a4c963-3b68-4537-a0da-e47fe5f1d7ac 6 157527623 157527623 A C SNP ARID1B ENST00000367148 human ensembl 69_37n +1 known missense c.5468 p.K1823T 1.000 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1B HGNC ENSG00000049618 181 0 0.00 32 122 79.22 - - - ARIH1 0 genome.wustl.edu 37 15 72855839 72855839 + Silent SNP T T C TCGA-A8-A07L-01A-11W-A019-09 TCGA-A8-A07L-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4cc86f29-061e-4058-8e8f-4c48191f52aa 44a4c963-3b68-4537-a0da-e47fe5f1d7ac 15 72855839 72855839 T C SNP ARIH1 ENST00000379887 human ensembl 69_37n +1 known silent c.909 p.F303 0.999 pfam_Znf_C6HC,smart_Znf_C6HC,smart_Znf_RING pfam_Znf_C6HC,smart_Znf_RING,smart_Znf_C6HC,pfscan_Znf_RING - no_errors ARIH1 HGNC ENSG00000166233 113 0 0.00 95 61 39.10 - - - ASTN1 0 genome.wustl.edu 37 1 176863946 176863946 + Missense_Mutation SNP A A T TCGA-A8-A07L-01A-11W-A019-09 TCGA-A8-A07L-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4cc86f29-061e-4058-8e8f-4c48191f52aa 44a4c963-3b68-4537-a0da-e47fe5f1d7ac 1 176863946 176863946 A T SNP ASTN1 ENST00000367654 human ensembl 69_37n -1 known missense c.2716 p.S906T 1.000 smart_MACPF superfamily_Fibronectin_type3,smart_EGF-like,smart_MACPF,pfscan_Fibronectin_type3 - no_errors ASTN1 HGNC ENSG00000152092 185 0 0.00 226 71 23.91 - - - ASTN1 0 genome.wustl.edu 37 1 176918359 176918359 + Silent SNP C C A TCGA-A8-A07L-01A-11W-A019-09 TCGA-A8-A07L-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4cc86f29-061e-4058-8e8f-4c48191f52aa 44a4c963-3b68-4537-a0da-e47fe5f1d7ac 1 176918359 176918359 C A SNP ASTN1 ENST00000367654 human ensembl 69_37n -1 known silent c.2040 p.P680 0.478 smart_EGF-like superfamily_Fibronectin_type3,smart_EGF-like,smart_MACPF,pfscan_Fibronectin_type3 - no_errors ASTN1 HGNC ENSG00000152092 79 0 0.00 112 42 27.10 - - - ATRX 0 genome.wustl.edu 37 X 76849193 76849193 + Missense_Mutation SNP C C G TCGA-A8-A07L-01A-11W-A019-09 TCGA-A8-A07L-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4cc86f29-061e-4058-8e8f-4c48191f52aa 44a4c963-3b68-4537-a0da-e47fe5f1d7ac X 76849193 76849193 C G SNP ATRX ENST00000373344 human ensembl 69_37n -1 known missense c.6083 p.R2028P 1.000 pfscan_Helicase_C pfam_SNF2_N,pfam_Helicase_C,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ATRX HGNC ENSG00000085224 304 0 0.00 240 40 14.29 - - - BMS1 0 genome.wustl.edu 37 10 43288536 43288536 + Missense_Mutation SNP G G T TCGA-A8-A07L-01A-11W-A019-09 TCGA-A8-A07L-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4cc86f29-061e-4058-8e8f-4c48191f52aa 44a4c963-3b68-4537-a0da-e47fe5f1d7ac 10 43288536 43288536 G T SNP BMS1 ENST00000374518 human ensembl 69_37n +1 known missense c.1033 p.V345L 0.990 NULL pfam_BMS1_TSR1_C,pfam_AARP2CN,pfam_ProtSyn_GTP-bd,smart_AARP2CN - no_errors BMS1 HGNC ENSG00000165733 357 0 0.00 195 141 41.96 - - - BOD1L1 0 genome.wustl.edu 37 4 13603397 13603397 + Silent SNP G G T TCGA-A8-A07L-01A-11W-A019-09 TCGA-A8-A07L-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4cc86f29-061e-4058-8e8f-4c48191f52aa 44a4c963-3b68-4537-a0da-e47fe5f1d7ac 4 13603397 13603397 G T SNP BOD1L1 ENST00000040738 human ensembl 69_37n -1 known silent c.5127 p.G1709 0.009 NULL NULL - no_errors BOD1L1 HGNC ENSG00000038219 462 0 0.00 301 438 59.19 - - - BTBD1 0 genome.wustl.edu 37 15 83687554 83687554 + Missense_Mutation SNP T T G TCGA-A8-A07L-01A-11W-A019-09 TCGA-A8-A07L-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4cc86f29-061e-4058-8e8f-4c48191f52aa 44a4c963-3b68-4537-a0da-e47fe5f1d7ac 15 83687554 83687554 T G SNP BTBD1 ENST00000261721 human ensembl 69_37n -1 known missense c.1195 p.S399R 1.000 pfam_PHR pfam_PHR,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors BTBD1 HGNC ENSG00000064726 57 0 0.00 48 19 28.36 - - - C12orf68 0 genome.wustl.edu 37 12 48578200 48578200 + Nonsense_Mutation SNP C C T TCGA-A8-A07L-01A-11W-A019-09 TCGA-A8-A07L-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4cc86f29-061e-4058-8e8f-4c48191f52aa 44a4c963-3b68-4537-a0da-e47fe5f1d7ac 12 48578200 48578200 C T SNP C12orf68 ENST00000316554 human ensembl 69_37n +1 known nonsense c.295 p.Q99* 1.000 NULL NULL - no_errors C12orf68 HGNC ENSG00000177875 8 0 0.00 12 6 33.33 - - - C5 0 genome.wustl.edu 37 9 123759853 123759853 + Missense_Mutation SNP T T C TCGA-A8-A07L-01A-11W-A019-09 TCGA-A8-A07L-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4cc86f29-061e-4058-8e8f-4c48191f52aa 44a4c963-3b68-4537-a0da-e47fe5f1d7ac 9 123759853 123759853 T C SNP C5 ENST00000223642 human ensembl 69_37n -1 known missense c.2762 p.E921G 1.000 NULL pfam_A2M_comp,pfam_Macroglobln_a2,pfam_A2M_N_2,pfam_A-macroglobulin_rcpt-bd,pfam_Netrin_module_non-TIMP,pfam_A2M_N,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 C5 HGNC ENSG00000106804 108 0 0.00 144 19 11.66 - - - CAMK2G 0 genome.wustl.edu 37 10 75612979 75612979 + Silent SNP T T C TCGA-A8-A07L-01A-11W-A019-09 TCGA-A8-A07L-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4cc86f29-061e-4058-8e8f-4c48191f52aa 44a4c963-3b68-4537-a0da-e47fe5f1d7ac 10 75612979 75612979 T C SNP CAMK2G ENST00000423381 human ensembl 69_37n -1 known silent c.246 p.E82 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_Ca/CaM-dep_prot_kinase-assoc,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 CAMK2G HGNC ENSG00000148660 72 0 0.00 35 34 48.57 - - - CASQ1 0 genome.wustl.edu 37 1 160165315 160165315 + Silent SNP C C T TCGA-A8-A07L-01A-11W-A019-09 TCGA-A8-A07L-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4cc86f29-061e-4058-8e8f-4c48191f52aa 44a4c963-3b68-4537-a0da-e47fe5f1d7ac 1 160165315 160165315 C T SNP CASQ1 ENST00000368078 human ensembl 69_37n +1 known silent c.642 p.F214 0.997 pfam_Calsequestrin,superfamily_Thioredoxin-like_fold,prints_Calsequestrin pfam_Calsequestrin,superfamily_Thioredoxin-like_fold,prints_Calsequestrin - no_errors CASQ1 HGNC ENSG00000143318 144 0 0.00 365 60 14.12 - - - CCDC150 0 genome.wustl.edu 37 2 197521456 197521456 + Missense_Mutation SNP T T G TCGA-A8-A07L-01A-11W-A019-09 TCGA-A8-A07L-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4cc86f29-061e-4058-8e8f-4c48191f52aa 44a4c963-3b68-4537-a0da-e47fe5f1d7ac 2 197521456 197521456 T G SNP CCDC150 ENST00000389175 human ensembl 69_37n +1 known missense c.276 p.I92M 0.938 NULL NULL - no_errors CCDC150 HGNC ENSG00000144395 112 0 0.00 68 54 44.26 - - - CCS 0 genome.wustl.edu 37 11 66366957 66366958 + Frame_Shift_Ins INS - - G TCGA-A8-A07L-01A-11W-A019-09 TCGA-A8-A07L-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4cc86f29-061e-4058-8e8f-4c48191f52aa 44a4c963-3b68-4537-a0da-e47fe5f1d7ac 11 66366957 66366958 - G INS CCS ENST00000533244 human ensembl 69_37n +1 known frame_shift_ins c.278_279 p.P96fs 1.000:0.968 pfam_SOD_Cu_Zn_dom,superfamily_SOD_Cu_Zn_dom pfam_SOD_Cu_Zn_dom,pfam_HeavyMe-assoc_HMA,superfamily_SOD_Cu_Zn_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,prints_SOD_Cu_Zn_dom - no_errors CCS HGNC ENSG00000173992 21 0 0.00 29 4 12.12 - - - CD300LG 0 genome.wustl.edu 37 17 41931337 41931338 + Frame_Shift_Ins INS - - C TCGA-A8-A07L-01A-11W-A019-09 TCGA-A8-A07L-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4cc86f29-061e-4058-8e8f-4c48191f52aa 44a4c963-3b68-4537-a0da-e47fe5f1d7ac 17 41931337 41931338 - C INS CD300LG ENST00000317310 human ensembl 69_37n +1 known frame_shift_ins c.644_645 p.M218fs 0.000:0.000 NULL pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like - no_errors CD300LG HGNC ENSG00000161649 57 0 0.00 50 6 10.71 - - - CD38 0 genome.wustl.edu 37 4 15818253 15818253 + Missense_Mutation SNP C C A TCGA-A8-A07L-01A-11W-A019-09 TCGA-A8-A07L-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4cc86f29-061e-4058-8e8f-4c48191f52aa 44a4c963-3b68-4537-a0da-e47fe5f1d7ac 4 15818253 15818253 C A SNP CD38 ENST00000226279 human ensembl 69_37n +1 known missense c.353 p.P118H 0.887 pfam_ADP-ribosyl_cyclase pfam_ADP-ribosyl_cyclase - no_errors CD38 HGNC ENSG00000004468 287 0 0.00 363 122 25.15 - - - CR2 0 genome.wustl.edu 37 1 207640226 207640226 + Missense_Mutation SNP G G C TCGA-A8-A07L-01A-11W-A019-09 TCGA-A8-A07L-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4cc86f29-061e-4058-8e8f-4c48191f52aa 44a4c963-3b68-4537-a0da-e47fe5f1d7ac 1 207640226 207640226 G C SNP CR2 ENST00000367057 human ensembl 69_37n +1 known missense c.414 p.W138C 1.000 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CR2 HGNC ENSG00000117322 97 0 0.00 250 64 20.38 - - - CSMD2 0 genome.wustl.edu 37 1 34190272 34190272 + Missense_Mutation SNP G G T TCGA-A8-A07L-01A-11W-A019-09 TCGA-A8-A07L-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4cc86f29-061e-4058-8e8f-4c48191f52aa 44a4c963-3b68-4537-a0da-e47fe5f1d7ac 1 34190272 34190272 G T SNP CSMD2 ENST00000373381 human ensembl 69_37n -1 known missense c.2729 p.P910Q 1.000 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD2 HGNC ENSG00000121904 103 0 0.00 79 42 34.71 - - - DENND1B 0 genome.wustl.edu 37 1 197564409 197564409 + Missense_Mutation SNP C C T TCGA-A8-A07L-01A-11W-A019-09 TCGA-A8-A07L-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4cc86f29-061e-4058-8e8f-4c48191f52aa 44a4c963-3b68-4537-a0da-e47fe5f1d7ac 1 197564409 197564409 C T SNP DENND1B ENST00000367396 human ensembl 69_37n -1 known missense c.976 p.V326I 1.000 pfam_dDENN_dom,smart_dDENN_dom,pfscan_dDENN_dom pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND1B HGNC ENSG00000213047 557 0 0.00 763 116 13.18 - - - DFNB31 0 genome.wustl.edu 37 9 117188598 117188598 + Missense_Mutation SNP G G C TCGA-A8-A07L-01A-11W-A019-09 TCGA-A8-A07L-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4cc86f29-061e-4058-8e8f-4c48191f52aa 44a4c963-3b68-4537-a0da-e47fe5f1d7ac 9 117188598 117188598 G C SNP DFNB31 ENST00000362057 human ensembl 69_37n -1 known missense c.1059 p.I353M 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors DFNB31 HGNC ENSG00000095397 88 0 0.00 78 83 51.55 - - - DNAJB4 0 genome.wustl.edu 37 1 78478898 78478898 + Missense_Mutation SNP G G A TCGA-A8-A07L-01A-11W-A019-09 TCGA-A8-A07L-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4cc86f29-061e-4058-8e8f-4c48191f52aa 44a4c963-3b68-4537-a0da-e47fe5f1d7ac 1 78478898 78478898 G A SNP DNAJB4 ENST00000370763 human ensembl 69_37n +1 known missense c.375 p.M125I 1.000 NULL pfam_DnaJ_C,pfam_DnaJ_N,superfamily_DnaJ_N,superfamily_HSP40/DnaJ_pept-bd,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJB4 HGNC ENSG00000162616 337 0 0.00 246 145 36.99 - - - DNAJC11 0 genome.wustl.edu 37 1 6727803 6727804 + Frame_Shift_Del DEL TC TC - TCGA-A8-A07L-01A-11W-A019-09 TCGA-A8-A07L-10A-01W-A021-09 TC TC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4cc86f29-061e-4058-8e8f-4c48191f52aa 44a4c963-3b68-4537-a0da-e47fe5f1d7ac 1 6727803 6727804 TC - DEL DNAJC11 ENST00000377577 human ensembl 69_37n -1 known frame_shift_del c.344_343 p.E115fs 1.000:1.000 NULL pfam_DnaJ-like_C11_C,pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJC11 HGNC ENSG00000007923 21 0 0.00 27 4 12.90 - - - DSC2 0 genome.wustl.edu 37 18 28660146 28660146 + Missense_Mutation SNP C C T TCGA-A8-A07L-01A-11W-A019-09 TCGA-A8-A07L-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4cc86f29-061e-4058-8e8f-4c48191f52aa 44a4c963-3b68-4537-a0da-e47fe5f1d7ac 18 28660146 28660146 C T SNP DSC2 ENST00000280904 human ensembl 69_37n -1 known missense c.1436 p.R479H 0.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmocollin,prints_Desmo_cadherin - no_errors DSC2 HGNC ENSG00000134755 279 1 0.36 60 108 63.91 - - - DYNC2H1 0 genome.wustl.edu 37 11 103106512 103106512 + Nonsense_Mutation SNP G G T TCGA-A8-A07L-01A-11W-A019-09 TCGA-A8-A07L-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4cc86f29-061e-4058-8e8f-4c48191f52aa 44a4c963-3b68-4537-a0da-e47fe5f1d7ac 11 103106512 103106512 G T SNP DYNC2H1 ENST00000398093 human ensembl 69_37n +1 known nonsense c.9679 p.E3227* 1.000 NULL pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DYNC2H1 HGNC ENSG00000187240 213 0 0.00 156 86 35.54 - - - EPHB6 0 genome.wustl.edu 37 7 142562162 142562162 + Missense_Mutation SNP G G T TCGA-A8-A07L-01A-11W-A019-09 TCGA-A8-A07L-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4cc86f29-061e-4058-8e8f-4c48191f52aa 44a4c963-3b68-4537-a0da-e47fe5f1d7ac 7 142562162 142562162 G T SNP EPHB6 ENST00000392957 human ensembl 69_37n +1 known missense c.604 p.G202W 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom - no_errors EPHB6 HGNC ENSG00000106123 57 0 0.00 26 18 40.00 - - - ESYT1 0 genome.wustl.edu 37 12 56531336 56531336 + Silent SNP T T C TCGA-A8-A07L-01A-11W-A019-09 TCGA-A8-A07L-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4cc86f29-061e-4058-8e8f-4c48191f52aa 44a4c963-3b68-4537-a0da-e47fe5f1d7ac 12 56531336 56531336 T C SNP ESYT1 ENST00000267113 human ensembl 69_37n +1 known silent c.2022 p.R674 0.998 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,prints_C2_dom,pfscan_C2_membr_targeting - no_errors ESYT1 HGNC ENSG00000139641 205 0 0.00 154 103 39.92 - - - F5 0 genome.wustl.edu 37 1 169484814 169484814 + Missense_Mutation SNP C C A TCGA-A8-A07L-01A-11W-A019-09 TCGA-A8-A07L-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4cc86f29-061e-4058-8e8f-4c48191f52aa 44a4c963-3b68-4537-a0da-e47fe5f1d7ac 1 169484814 169484814 C A SNP F5 ENST00000367796 human ensembl 69_37n -1 known missense c.6411 p.K2137N 1.000 pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors F5 HGNC ENSG00000198734 251 0 0.00 430 90 17.27 - - - FAM167A 0 genome.wustl.edu 37 8 11301766 11301766 + Missense_Mutation SNP C C A TCGA-A8-A07L-01A-11W-A019-09 TCGA-A8-A07L-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4cc86f29-061e-4058-8e8f-4c48191f52aa 44a4c963-3b68-4537-a0da-e47fe5f1d7ac 8 11301766 11301766 C A SNP FAM167A ENST00000284486 human ensembl 69_37n -1 known missense c.155 p.R52M 0.973 NULL pfam_FAM167 - no_errors FAM167A HGNC ENSG00000154319 20 0 0.00 11 15 57.69 - - - FAM180A 0 genome.wustl.edu 37 7 135433316 135433316 + Missense_Mutation SNP T T A TCGA-A8-A07L-01A-11W-A019-09 TCGA-A8-A07L-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4cc86f29-061e-4058-8e8f-4c48191f52aa 44a4c963-3b68-4537-a0da-e47fe5f1d7ac 7 135433316 135433316 T A SNP FAM180A ENST00000338588 human ensembl 69_37n -1 known missense c.13 p.M5L 0.440 NULL NULL - no_errors FAM180A HGNC ENSG00000189320 384 0 0.00 261 149 36.25 - - - FAM22B 0 genome.wustl.edu 37 10 81471609 81471609 + Missense_Mutation SNP A A G TCGA-A8-A07L-01A-11W-A019-09 TCGA-A8-A07L-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4cc86f29-061e-4058-8e8f-4c48191f52aa 44a4c963-3b68-4537-a0da-e47fe5f1d7ac 10 81471609 81471609 A G SNP FAM22B ENST00000429828 human ensembl 69_37n +1 known missense c.2005 p.M669V 0.000 NULL NULL - no_errors FAM22B HGNC ENSG00000188199 72 0 0.00 63 12 16.00 - - - FAT3 0 genome.wustl.edu 37 11 92531007 92531007 + Missense_Mutation SNP A A C TCGA-A8-A07L-01A-11W-A019-09 TCGA-A8-A07L-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4cc86f29-061e-4058-8e8f-4c48191f52aa 44a4c963-3b68-4537-a0da-e47fe5f1d7ac 11 92531007 92531007 A C SNP FAT3 ENST00000298047 human ensembl 69_37n +1 known missense c.4828 p.T1610P 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,smart_EGF-like,smart_Laminin_G,smart_EGF-like_Ca-bd,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin - no_errors FAT3 HGNC ENSG00000165323 171 1 0.58 119 66 35.48 - - - FN1 0 genome.wustl.edu 37 2 216271007 216271007 + Silent SNP C C A TCGA-A8-A07L-01A-11W-A019-09 TCGA-A8-A07L-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4cc86f29-061e-4058-8e8f-4c48191f52aa 44a4c963-3b68-4537-a0da-e47fe5f1d7ac 2 216271007 216271007 C A SNP FN1 ENST00000354785 human ensembl 69_37n -1 known silent c.2940 p.V980 0.826 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibronectin_type1,pfam_FN_type2_col-bd,superfamily_Kringle-like,superfamily_Fibronectin_type3,smart_Fibronectin_type1,smart_FN_type2_col-bd,smart_Fibronectin_type3,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Fibronectin_type3 - no_errors FN1 HGNC ENSG00000115414 125 0 0.00 75 40 34.78 - - - FSIP2 0 genome.wustl.edu 37 2 186670216 186670216 + Nonsense_Mutation SNP C C T TCGA-A8-A07L-01A-11W-A019-09 TCGA-A8-A07L-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4cc86f29-061e-4058-8e8f-4c48191f52aa 44a4c963-3b68-4537-a0da-e47fe5f1d7ac 2 186670216 186670216 C T SNP FSIP2 ENST00000343098 human ensembl 69_37n +1 known nonsense c.16450 p.Q5484* 1.000 NULL NULL - no_errors FSIP2 HGNC ENSG00000188738 291 0 0.00 213 115 34.95 - - - GCN1L1 0 genome.wustl.edu 37 12 120591040 120591040 + Missense_Mutation SNP C C A TCGA-A8-A07L-01A-11W-A019-09 TCGA-A8-A07L-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4cc86f29-061e-4058-8e8f-4c48191f52aa 44a4c963-3b68-4537-a0da-e47fe5f1d7ac 12 120591040 120591040 C A SNP GCN1L1 ENST00000300648 human ensembl 69_37n -1 known missense c.4039 p.A1347S 1.000 superfamily_ARM-type_fold pfam_DUF3554,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors GCN1L1 HGNC ENSG00000089154 19 0 0.00 9 8 47.06 - - - GNAS 0 genome.wustl.edu 37 20 57486002 57486003 + RNA INS - - C TCGA-A8-A07L-01A-11W-A019-09 TCGA-A8-A07L-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4cc86f29-061e-4058-8e8f-4c48191f52aa 44a4c963-3b68-4537-a0da-e47fe5f1d7ac 20 57486002 57486003 - C INS GNAS ENST00000464624 human ensembl 69_37n +1 known rna NULL NULL 0.083:0.111 - - - no_errors GNAS HGNC ENSG00000087460 25 0 0.00 33 4 10.81 - - - GOLGA4 0 genome.wustl.edu 37 3 37367243 37367243 + Missense_Mutation SNP A A G TCGA-A8-A07L-01A-11W-A019-09 TCGA-A8-A07L-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4cc86f29-061e-4058-8e8f-4c48191f52aa 44a4c963-3b68-4537-a0da-e47fe5f1d7ac 3 37367243 37367243 A G SNP GOLGA4 ENST00000361924 human ensembl 69_37n +1 known missense c.3866 p.N1289S 0.009 NULL pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,superfamily_t-SNARE,superfamily_Prefoldin,smart_GRIP,pfscan_GRIP - no_errors GOLGA4 HGNC ENSG00000144674 229 0 0.00 52 186 77.82 - - - GPR161 0 genome.wustl.edu 37 1 168073818 168073818 + Missense_Mutation SNP T T C TCGA-A8-A07L-01A-11W-A019-09 TCGA-A8-A07L-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4cc86f29-061e-4058-8e8f-4c48191f52aa 44a4c963-3b68-4537-a0da-e47fe5f1d7ac 1 168073818 168073818 T C SNP GPR161 ENST00000537209 human ensembl 69_37n -1 known missense c.331 p.R111G 0.956 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn - no_errors GPR161 HGNC ENSG00000143147 112 0 0.00 153 33 17.65 - - - HECTD4 0 genome.wustl.edu 37 12 112622033 112622034 + Frame_Shift_Ins INS - - AA TCGA-A8-A07L-01A-11W-A019-09 TCGA-A8-A07L-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4cc86f29-061e-4058-8e8f-4c48191f52aa 44a4c963-3b68-4537-a0da-e47fe5f1d7ac 12 112622033 112622034 - AA INS HECTD4 ENST00000377560 human ensembl 69_37n -1 known frame_shift_ins c.10221_10220 p.Q3407fs 1.000:1.000 NULL pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl,smart_HECT,pfscan_HECT - no_errors HECTD4 HGNC ENSG00000173064 34 0 0.00 20 16 44.44 - - - HGSNAT 0 genome.wustl.edu 37 8 43054635 43054635 + Missense_Mutation SNP C C A TCGA-A8-A07L-01A-11W-A019-09 TCGA-A8-A07L-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4cc86f29-061e-4058-8e8f-4c48191f52aa 44a4c963-3b68-4537-a0da-e47fe5f1d7ac 8 43054635 43054635 C A SNP HGSNAT ENST00000458501 human ensembl 69_37n +1 known missense c.1915 p.Q639K 0.999 NULL pfam_DUF1624 - no_errors HGSNAT HGNC ENSG00000165102 80 0 0.00 51 27 34.62 - - - HIST1H2AI 0 genome.wustl.edu 37 6 27776369 27776369 + Nonsense_Mutation SNP A A T TCGA-A8-A07L-01A-11W-A019-09 TCGA-A8-A07L-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4cc86f29-061e-4058-8e8f-4c48191f52aa 44a4c963-3b68-4537-a0da-e47fe5f1d7ac 6 27776369 27776369 A T SNP HIST1H2AI ENST00000358739 human ensembl 69_37n +1 known nonsense c.382 p.K128* 1.000 NULL pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST1H2AI HGNC ENSG00000196747 69 0 0.00 50 35 40.70 - - - HLA-G 0 genome.wustl.edu 37 6 29797223 29797223 + Missense_Mutation SNP C C A TCGA-A8-A07L-01A-11W-A019-09 TCGA-A8-A07L-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4cc86f29-061e-4058-8e8f-4c48191f52aa 44a4c963-3b68-4537-a0da-e47fe5f1d7ac 6 29797223 29797223 C A SNP HLA-G ENST00000376828 human ensembl 69_37n +1 known missense c.663 p.H221Q 0.038 pfscan_Ig-like pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2 - no_errors HLA-G HGNC ENSG00000204632 181 0 0.00 130 69 34.16 - - - HOXA3 0 genome.wustl.edu 37 7 27148052 27148053 + Frame_Shift_Ins INS - - G TCGA-A8-A07L-01A-11W-A019-09 TCGA-A8-A07L-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4cc86f29-061e-4058-8e8f-4c48191f52aa 44a4c963-3b68-4537-a0da-e47fe5f1d7ac 7 27148052 27148053 - G INS HOXA3 ENST00000317201 human ensembl 69_37n -1 known frame_shift_ins c.814_813 p.G271fs 1.000:0.001 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors HOXA3 HGNC ENSG00000105997 54 0 0.00 43 5 10.42 - - - HRNR 0 genome.wustl.edu 37 1 152188961 152188961 + Missense_Mutation SNP C C T TCGA-A8-A07L-01A-11W-A019-09 TCGA-A8-A07L-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4cc86f29-061e-4058-8e8f-4c48191f52aa 44a4c963-3b68-4537-a0da-e47fe5f1d7ac 1 152188961 152188961 C T SNP HRNR ENST00000368801 human ensembl 69_37n -1 known missense c.5144 p.R1715H 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2 - no_errors HRNR HGNC ENSG00000197915 32 0 0.00 69 15 17.86 - - - HYDIN 0 genome.wustl.edu 37 16 70942229 70942229 + Silent SNP G G A TCGA-A8-A07L-01A-11W-A019-09 TCGA-A8-A07L-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4cc86f29-061e-4058-8e8f-4c48191f52aa 44a4c963-3b68-4537-a0da-e47fe5f1d7ac 16 70942229 70942229 G A SNP HYDIN ENST00000316490 human ensembl 69_37n -1 known silent c.8319 p.I2773 0.997 NULL superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 41 0 0.00 79 15 15.96 - - - INTS12 0 genome.wustl.edu 37 4 106613283 106613283 + Missense_Mutation SNP C C T TCGA-A8-A07L-01A-11W-A019-09 TCGA-A8-A07L-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4cc86f29-061e-4058-8e8f-4c48191f52aa 44a4c963-3b68-4537-a0da-e47fe5f1d7ac 4 106613283 106613283 C T SNP INTS12 ENST00000340139 human ensembl 69_37n -1 known missense c.507 p.M169I 0.002 pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors INTS12 HGNC ENSG00000138785 115 0 0.00 22 51 69.86 - - - KCNK10 0 genome.wustl.edu 37 14 88729861 88729861 + Silent SNP G G C TCGA-A8-A07L-01A-11W-A019-09 TCGA-A8-A07L-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4cc86f29-061e-4058-8e8f-4c48191f52aa 44a4c963-3b68-4537-a0da-e47fe5f1d7ac 14 88729861 88729861 G C SNP KCNK10 ENST00000312350 human ensembl 69_37n -1 known silent c.87 p.P29 1.000 prints_2pore_dom_K_chnl_TREK pfam_Ion_trans_2,prints_2pore_dom_K_chnl_TREK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TRAAK,prints_2pore_dom_K_chnl_TASK - no_errors KCNK10 HGNC ENSG00000100433 45 0 0.00 9 29 76.32 - - - KIAA1109 0 genome.wustl.edu 37 4 123151230 123151230 + Missense_Mutation SNP C C A TCGA-A8-A07L-01A-11W-A019-09 TCGA-A8-A07L-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4cc86f29-061e-4058-8e8f-4c48191f52aa 44a4c963-3b68-4537-a0da-e47fe5f1d7ac 4 123151230 123151230 C A SNP KIAA1109 ENST00000424425 human ensembl 69_37n +1 novel missense c.2681 p.T894K 0.983 NULL pfam_MMADHC - no_start_codon:pseudogene KIAA1109 HGNC ENSG00000138688 149 0 0.00 117 61 34.27 - - - KIAA1958 0 genome.wustl.edu 37 9 115337155 115337155 + Missense_Mutation SNP C C A TCGA-A8-A07L-01A-11W-A019-09 TCGA-A8-A07L-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4cc86f29-061e-4058-8e8f-4c48191f52aa 44a4c963-3b68-4537-a0da-e47fe5f1d7ac 9 115337155 115337155 C A SNP KIAA1958 ENST00000536272 human ensembl 69_37n +1 known missense c.795 p.D265E 0.999 NULL pfam_DUF3504,superfamily_Integrase_Lambda-type_N - no_errors KIAA1958 HGNC ENSG00000165185 373 0 0.00 441 354 44.53 - - - KIR2DL4 0 genome.wustl.edu 37 19 55325383 55325383 + Silent SNP T T A TCGA-A8-A07L-01A-11W-A019-09 TCGA-A8-A07L-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4cc86f29-061e-4058-8e8f-4c48191f52aa 44a4c963-3b68-4537-a0da-e47fe5f1d7ac 19 55325383 55325383 T A SNP KIR2DL4 ENST00000396284 human ensembl 69_37n +1 known silent c.1011 p.S337 0.003 NULL pfam_Immunoglobulin,smart_Ig_sub - no_errors KIR2DL4 HGNC ENSG00000189013 227 0 0.00 183 113 38.05 - - - L1CAM 0 genome.wustl.edu 37 X 153128304 153128304 + Silent SNP G G A TCGA-A8-A07L-01A-11W-A019-09 TCGA-A8-A07L-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4cc86f29-061e-4058-8e8f-4c48191f52aa 44a4c963-3b68-4537-a0da-e47fe5f1d7ac X 153128304 153128304 G A SNP L1CAM ENST00000543994 human ensembl 69_37n -1 known silent c.3594 p.N1198 0.796 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors L1CAM HGNC ENSG00000198910 22 0 0.00 15 7 31.82 - - - MALAT1 0 genome.wustl.edu 37 11 65268662 65268662 + RNA SNP G G A TCGA-A8-A07L-01A-11W-A019-09 TCGA-A8-A07L-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4cc86f29-061e-4058-8e8f-4c48191f52aa 44a4c963-3b68-4537-a0da-e47fe5f1d7ac 11 65268662 65268662 G A SNP MALAT1 ENST00000534336 human ensembl 69_37n +1 known rna NULL NULL 0.002 - - - no_errors MALAT1 HGNC ENSG00000251562 64 0 0.00 51 31 37.80 - - - MARK1 0 genome.wustl.edu 37 1 220825377 220825377 + Missense_Mutation SNP G G A TCGA-A8-A07L-01A-11W-A019-09 TCGA-A8-A07L-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4cc86f29-061e-4058-8e8f-4c48191f52aa 44a4c963-3b68-4537-a0da-e47fe5f1d7ac 1 220825377 220825377 G A SNP MARK1 ENST00000366917 human ensembl 69_37n +1 known missense c.1621 p.A541T 0.052 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase-assoc_KA1,superfamily_Kinase-like_dom,superfamily_Kinase-assoc_KA1,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MARK1 HGNC ENSG00000116141 123 0 0.00 85 26 23.42 - - - MCOLN3 0 genome.wustl.edu 37 1 85506801 85506801 + Missense_Mutation SNP T T C TCGA-A8-A07L-01A-11W-A019-09 TCGA-A8-A07L-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4cc86f29-061e-4058-8e8f-4c48191f52aa 44a4c963-3b68-4537-a0da-e47fe5f1d7ac 1 85506801 85506801 T C SNP MCOLN3 ENST00000302814 human ensembl 69_37n -1 known missense c.288 p.I96M 0.933 NULL pfam_PKD1_2_channel - no_errors MCOLN3 HGNC ENSG00000055732 224 0 0.00 46 105 69.54 - - - MED12 0 genome.wustl.edu 37 X 70339989 70339989 + Missense_Mutation SNP G G T TCGA-A8-A07L-01A-11W-A019-09 TCGA-A8-A07L-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4cc86f29-061e-4058-8e8f-4c48191f52aa 44a4c963-3b68-4537-a0da-e47fe5f1d7ac X 70339989 70339989 G T SNP MED12 ENST00000333646 human ensembl 69_37n +1 known missense c.522 p.K174N 1.000 NULL pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12_catenin-bd,pfam_Mediator_Med12 - no_errors MED12 HGNC ENSG00000184634 230 0 0.00 113 36 24.16 - - - MGAM 0 genome.wustl.edu 37 7 141708438 141708438 + Missense_Mutation SNP C C T TCGA-A8-A07L-01A-11W-A019-09 TCGA-A8-A07L-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4cc86f29-061e-4058-8e8f-4c48191f52aa 44a4c963-3b68-4537-a0da-e47fe5f1d7ac 7 141708438 141708438 C T SNP MGAM ENST00000549489 human ensembl 69_37n +1 known missense c.260 p.S87F 0.054 NULL pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil - no_errors MGAM HGNC ENSG00000257335 162 0 0.00 101 72 41.62 - - - MOAP1 0 genome.wustl.edu 37 14 93650587 93650587 + Missense_Mutation SNP T T A TCGA-A8-A07L-01A-11W-A019-09 TCGA-A8-A07L-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4cc86f29-061e-4058-8e8f-4c48191f52aa 44a4c963-3b68-4537-a0da-e47fe5f1d7ac 14 93650587 93650587 T A SNP MOAP1 ENST00000298894 human ensembl 69_37n -1 known missense c.1 p.M1L 0.005 NULL NULL - no_errors MOAP1 HGNC ENSG00000165943 79 0 0.00 10 22 68.75 - - - MTHFD1 0 genome.wustl.edu 37 14 64898551 64898551 + Missense_Mutation SNP T T A TCGA-A8-A07L-01A-11W-A019-09 TCGA-A8-A07L-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4cc86f29-061e-4058-8e8f-4c48191f52aa 44a4c963-3b68-4537-a0da-e47fe5f1d7ac 14 64898551 64898551 T A SNP MTHFD1 ENST00000216605 human ensembl 69_37n +1 known missense c.1634 p.F545Y 1.000 pfam_Formate_THF_ligase pfam_Formate_THF_ligase,pfam_THF_DH/CycHdrlase_NAD-bd_dom,pfam_THF_DH/CycHdrlase_cat_dom,prints_THF_DH/CycHdrlase - no_errors MTHFD1 HGNC ENSG00000100714 159 0 0.00 33 78 70.27 - - - MXD1 0 genome.wustl.edu 37 2 70165321 70165321 + Missense_Mutation SNP A A C TCGA-A8-A07L-01A-11W-A019-09 TCGA-A8-A07L-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4cc86f29-061e-4058-8e8f-4c48191f52aa 44a4c963-3b68-4537-a0da-e47fe5f1d7ac 2 70165321 70165321 A C SNP MXD1 ENST00000264444 human ensembl 69_37n +1 known missense c.571 p.S191R 1.000 NULL pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd - no_errors MXD1 HGNC ENSG00000059728 71 0 0.00 39 30 43.48 - - - NFATC2 0 genome.wustl.edu 37 20 50092025 50092025 + Missense_Mutation SNP G G T TCGA-A8-A07L-01A-11W-A019-09 TCGA-A8-A07L-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4cc86f29-061e-4058-8e8f-4c48191f52aa 44a4c963-3b68-4537-a0da-e47fe5f1d7ac 20 50092025 50092025 G T SNP NFATC2 ENST00000396009 human ensembl 69_37n -1 known missense c.1505 p.P502H 1.000 pfam_RHD,superfamily_p53-like_TF_DNA-bd,pfscan_RHD pfam_RHD,pfam_IPT_TIG_rcpt,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,prints_NFAT,pfscan_RHD - no_errors NFATC2 HGNC ENSG00000101096 119 0 0.00 169 56 24.89 - - - NPM3 0 genome.wustl.edu 37 10 103542241 103542241 + Silent SNP T T C TCGA-A8-A07L-01A-11W-A019-09 TCGA-A8-A07L-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4cc86f29-061e-4058-8e8f-4c48191f52aa 44a4c963-3b68-4537-a0da-e47fe5f1d7ac 10 103542241 103542241 T C SNP NPM3 ENST00000370110 human ensembl 69_37n -1 known silent c.318 p.Q106 0.865 pfam_Nucleoplasmin,superfamily_Nucleoplasmin_core pfam_Nucleoplasmin,superfamily_Nucleoplasmin_core - no_errors NPM3 HGNC ENSG00000107833 13 0 0.00 10 12 54.55 - - - NR3C2 0 genome.wustl.edu 37 4 149356793 149356793 + Missense_Mutation SNP C C G TCGA-A8-A07L-01A-11W-A019-09 TCGA-A8-A07L-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4cc86f29-061e-4058-8e8f-4c48191f52aa 44a4c963-3b68-4537-a0da-e47fe5f1d7ac 4 149356793 149356793 C G SNP NR3C2 ENST00000355292 human ensembl 69_37n -1 known missense c.1220 p.S407T 1.000 NULL pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors NR3C2 HGNC ENSG00000151623 192 0 0.00 95 72 43.11 - - - OR4F17 0 genome.wustl.edu 37 19 110808 110808 + Missense_Mutation SNP T T A TCGA-A8-A07L-01A-11W-A019-09 TCGA-A8-A07L-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4cc86f29-061e-4058-8e8f-4c48191f52aa 44a4c963-3b68-4537-a0da-e47fe5f1d7ac 19 110808 110808 T A SNP OR4F17 ENST00000318050 human ensembl 69_37n +1 known missense c.130 p.S44T 0.000 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 OR4F17 HGNC ENSG00000176695 383 0 0.00 452 199 30.57 - - - PGM5 0 genome.wustl.edu 37 9 71007317 71007317 + Missense_Mutation SNP G G A TCGA-A8-A07L-01A-11W-A019-09 TCGA-A8-A07L-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4cc86f29-061e-4058-8e8f-4c48191f52aa 44a4c963-3b68-4537-a0da-e47fe5f1d7ac 9 71007317 71007317 G A SNP PGM5 ENST00000396396 human ensembl 69_37n +1 known missense c.971 p.C324Y 1.000 pfam_A-D-PHexomutase_a/b/a-III,superfamily_A-D-PHexomutase_a/b/a-I/II/III pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-III,pfam_A-D-PHexomutase_a/b/a-II,superfamily_A-D-PHexomutase_a/b/a-I/II/III,prints_Alpha-D-phosphohexomutase_SF - no_errors PGM5 HGNC ENSG00000154330 65 0 0.00 44 42 48.84 - - - POC1B 0 genome.wustl.edu 37 12 89818992 89818992 + Silent SNP G G T TCGA-A8-A07L-01A-11W-A019-09 TCGA-A8-A07L-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4cc86f29-061e-4058-8e8f-4c48191f52aa 44a4c963-3b68-4537-a0da-e47fe5f1d7ac 12 89818992 89818992 G T SNP POC1B ENST00000313546 human ensembl 69_37n -1 known silent c.1278 p.L426 0.002 NULL pfam_WD40_repeat,pfam_TIF2A_beta_prop-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors POC1B HGNC ENSG00000139323 303 0 0.00 233 128 35.46 - - - PPRC1 0 genome.wustl.edu 37 10 103901076 103901077 + Frame_Shift_Ins INS - - C TCGA-A8-A07L-01A-11W-A019-09 TCGA-A8-A07L-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4cc86f29-061e-4058-8e8f-4c48191f52aa 44a4c963-3b68-4537-a0da-e47fe5f1d7ac 10 103901076 103901077 - C INS PPRC1 ENST00000278070 human ensembl 69_37n +1 known frame_shift_ins c.2811_2812 p.P940fs 0.999:0.998 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors PPRC1 HGNC ENSG00000148840 54 0 0.00 77 9 10.47 - - - PRX 0 genome.wustl.edu 37 19 40901629 40901629 + Missense_Mutation SNP C C T TCGA-A8-A07L-01A-11W-A019-09 TCGA-A8-A07L-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4cc86f29-061e-4058-8e8f-4c48191f52aa 44a4c963-3b68-4537-a0da-e47fe5f1d7ac 19 40901629 40901629 C T SNP PRX ENST00000324001 human ensembl 69_37n -1 known missense c.2630 p.G877D 0.014 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PRX HGNC ENSG00000105227 75 0 0.00 53 55 50.93 - - - PSD 0 genome.wustl.edu 37 10 104165135 104165135 + Missense_Mutation SNP C C T TCGA-A8-A07L-01A-11W-A019-09 TCGA-A8-A07L-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4cc86f29-061e-4058-8e8f-4c48191f52aa 44a4c963-3b68-4537-a0da-e47fe5f1d7ac 10 104165135 104165135 C T SNP PSD ENST00000020673 human ensembl 69_37n -1 known missense c.2294 p.R765Q 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Sec7,pfam_Pleckstrin_homology,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7,prints_PH_dom-spectrin-type - no_errors PSD HGNC ENSG00000059915 110 0 0.00 58 38 39.58 - - - PSKH2 0 genome.wustl.edu 37 8 87076599 87076599 + Silent SNP G G C TCGA-A8-A07L-01A-11W-A019-09 TCGA-A8-A07L-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4cc86f29-061e-4058-8e8f-4c48191f52aa 44a4c963-3b68-4537-a0da-e47fe5f1d7ac 8 87076599 87076599 G C SNP PSKH2 ENST00000276616 human ensembl 69_37n -1 known silent c.447 p.L149 0.998 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors PSKH2 HGNC ENSG00000147613 140 0 0.00 192 185 49.07 - - - PVRL2 0 genome.wustl.edu 37 19 45389459 45389459 + Missense_Mutation SNP G G A TCGA-A8-A07L-01A-11W-A019-09 TCGA-A8-A07L-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4cc86f29-061e-4058-8e8f-4c48191f52aa 44a4c963-3b68-4537-a0da-e47fe5f1d7ac 19 45389459 45389459 G A SNP PVRL2 ENST00000252483 human ensembl 69_37n +1 known missense c.1330 p.A444T 0.000 NULL pfam_CD80_C2-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors PVRL2 HGNC ENSG00000130202 39 0 0.00 16 10 38.46 - - - RELN 0 genome.wustl.edu 37 7 103185571 103185571 + Missense_Mutation SNP C C T TCGA-A8-A07L-01A-11W-A019-09 TCGA-A8-A07L-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4cc86f29-061e-4058-8e8f-4c48191f52aa 44a4c963-3b68-4537-a0da-e47fe5f1d7ac 7 103185571 103185571 C T SNP RELN ENST00000424685 human ensembl 69_37n -1 known missense c.6523 p.G2175S 1.000 superfamily_Neuraminidase pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Neuraminidase,superfamily_Growth_fac_rcpt,smart_EGF-like,pfscan_EG-like_dom,pfscan_Reeler_dom - no_errors RELN HGNC ENSG00000189056 122 0 0.00 69 51 42.50 - - - RNF19A 0 genome.wustl.edu 37 8 101271468 101271468 + Silent SNP G G A TCGA-A8-A07L-01A-11W-A019-09 TCGA-A8-A07L-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4cc86f29-061e-4058-8e8f-4c48191f52aa 44a4c963-3b68-4537-a0da-e47fe5f1d7ac 8 101271468 101271468 G A SNP RNF19A ENST00000341084 human ensembl 69_37n -1 known silent c.1833 p.G611 0.995 NULL pfam_Znf_C6HC,smart_Znf_RING,smart_Znf_C6HC,pfscan_Znf_RING - no_errors RNF19A HGNC ENSG00000034677 271 0 0.00 705 92 11.53 - - - RRN3P1 0 genome.wustl.edu 37 16 21810986 21810986 + RNA SNP C C T TCGA-A8-A07L-01A-11W-A019-09 TCGA-A8-A07L-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4cc86f29-061e-4058-8e8f-4c48191f52aa 44a4c963-3b68-4537-a0da-e47fe5f1d7ac 16 21810986 21810986 C T SNP RRN3P1 ENST00000546471 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors RRN3P1 HGNC ENSG00000248124 46 0 0.00 27 19 41.30 - - - SALL1 0 genome.wustl.edu 37 16 51175777 51175777 + Missense_Mutation SNP A A T TCGA-A8-A07L-01A-11W-A019-09 TCGA-A8-A07L-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4cc86f29-061e-4058-8e8f-4c48191f52aa 44a4c963-3b68-4537-a0da-e47fe5f1d7ac 16 51175777 51175777 A T SNP SALL1 ENST00000251020 human ensembl 69_37n -1 known missense c.356 p.L119H 0.640 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL1 HGNC ENSG00000103449 148 0 0.00 34 72 67.92 - - - SELP 0 genome.wustl.edu 37 1 169578747 169578747 + Missense_Mutation SNP C C G TCGA-A8-A07L-01A-11W-A019-09 TCGA-A8-A07L-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4cc86f29-061e-4058-8e8f-4c48191f52aa 44a4c963-3b68-4537-a0da-e47fe5f1d7ac 1 169578747 169578747 C G SNP SELP ENST00000263686 human ensembl 69_37n -1 known missense c.1328 p.C443S 0.997 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,prints_Selectin_superfamily pfam_Sushi_SCR_CCP,pfam_C-type_lectin,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Sushi_SCR_CCP,prints_Selectin_superfamily - no_errors SELP HGNC ENSG00000174175 140 0 0.00 331 70 17.46 - - - SERTAD3 0 genome.wustl.edu 37 19 40947861 40947861 + Missense_Mutation SNP G G A TCGA-A8-A07L-01A-11W-A019-09 TCGA-A8-A07L-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4cc86f29-061e-4058-8e8f-4c48191f52aa 44a4c963-3b68-4537-a0da-e47fe5f1d7ac 19 40947861 40947861 G A SNP SERTAD3 ENST00000322354 human ensembl 69_37n -1 known missense c.127 p.R43C 0.973 pfam_SERTA,pfscan_SERTA pfam_SERTA,pfscan_SERTA - no_errors SERTAD3 HGNC ENSG00000167565 46 0 0.00 21 25 54.35 - - - SETDB1 0 genome.wustl.edu 37 1 150921875 150921875 + Missense_Mutation SNP A A C TCGA-A8-A07L-01A-11W-A019-09 TCGA-A8-A07L-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4cc86f29-061e-4058-8e8f-4c48191f52aa 44a4c963-3b68-4537-a0da-e47fe5f1d7ac 1 150921875 150921875 A C SNP SETDB1 ENST00000271640 human ensembl 69_37n +1 known missense c.1454 p.K485T 1.000 NULL pfam_SET_dom,pfam_Pre-SET_dom,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_integrase-typ,smart_Tudor,smart_Methyl_CpG_DNA-bd,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Methyl_CpG_DNA-bd,pfscan_SET_dom,pfscan_Pre-SET_dom,pfscan_Post-SET_dom - no_errors SETDB1 HGNC ENSG00000143379 165 0 0.00 292 70 19.34 - - - SLC16A6 0 genome.wustl.edu 37 17 66267701 66267701 + Silent SNP G G C TCGA-A8-A07L-01A-11W-A019-09 TCGA-A8-A07L-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4cc86f29-061e-4058-8e8f-4c48191f52aa 44a4c963-3b68-4537-a0da-e47fe5f1d7ac 17 66267701 66267701 G C SNP SLC16A6 ENST00000327268 human ensembl 69_37n -1 known silent c.600 p.L200 0.052 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A6 HGNC ENSG00000108932 76 0 0.00 89 37 29.13 - - - SLITRK3 0 genome.wustl.edu 37 3 164906133 164906133 + Missense_Mutation SNP G G A TCGA-A8-A07L-01A-11W-A019-09 TCGA-A8-A07L-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4cc86f29-061e-4058-8e8f-4c48191f52aa 44a4c963-3b68-4537-a0da-e47fe5f1d7ac 3 164906133 164906133 G A SNP SLITRK3 ENST00000241274 human ensembl 69_37n -1 known missense c.2486 p.T829I 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK3 HGNC ENSG00000121871 347 0 0.00 148 196 56.98 - - - SORCS3 0 genome.wustl.edu 37 10 107015559 107015559 + Missense_Mutation SNP G G A TCGA-A8-A07L-01A-11W-A019-09 TCGA-A8-A07L-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4cc86f29-061e-4058-8e8f-4c48191f52aa 44a4c963-3b68-4537-a0da-e47fe5f1d7ac 10 107015559 107015559 G A SNP SORCS3 ENST00000369701 human ensembl 69_37n +1 known missense c.3337 p.A1113T 1.000 NULL pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom - no_errors SORCS3 HGNC ENSG00000156395 144 0 0.00 88 48 35.29 - - - STAT4 0 genome.wustl.edu 37 2 192012876 192012876 + Silent SNP C C T TCGA-A8-A07L-01A-11W-A019-09 TCGA-A8-A07L-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4cc86f29-061e-4058-8e8f-4c48191f52aa 44a4c963-3b68-4537-a0da-e47fe5f1d7ac 2 192012876 192012876 C T SNP STAT4 ENST00000358470 human ensembl 69_37n -1 known silent c.54 p.V18 0.938 pfam_STAT_TF_prot_interaction,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,pfscan_SH2 - no_errors STAT4 HGNC ENSG00000138378 352 0 0.00 177 94 34.69 - - - STK10 0 genome.wustl.edu 37 5 171488230 171488230 + Missense_Mutation SNP C C G TCGA-A8-A07L-01A-11W-A019-09 TCGA-A8-A07L-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4cc86f29-061e-4058-8e8f-4c48191f52aa 44a4c963-3b68-4537-a0da-e47fe5f1d7ac 5 171488230 171488230 C G SNP STK10 ENST00000176763 human ensembl 69_37n -1 known missense c.2125 p.A709P 1.000 pfam_PKK pfam_PKK,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 STK10 HGNC ENSG00000072786 109 0 0.00 55 40 41.67 - - - SYT15 0 genome.wustl.edu 37 10 46965117 46965117 + Frame_Shift_Del DEL G G - TCGA-A8-A07L-01A-11W-A019-09 TCGA-A8-A07L-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4cc86f29-061e-4058-8e8f-4c48191f52aa 44a4c963-3b68-4537-a0da-e47fe5f1d7ac 10 46965117 46965117 G - DEL SYT15 ENST00000374323 human ensembl 69_37n -1 known frame_shift_del c.987 p.S330fs 1.000 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors SYT15 HGNC ENSG00000204176 23 0 0.00 21 4 14.81 - - - TAAR5 0 genome.wustl.edu 37 6 132910035 132910035 + Missense_Mutation SNP C C T TCGA-A8-A07L-01A-11W-A019-09 TCGA-A8-A07L-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4cc86f29-061e-4058-8e8f-4c48191f52aa 44a4c963-3b68-4537-a0da-e47fe5f1d7ac 6 132910035 132910035 C T SNP TAAR5 ENST00000258034 human ensembl 69_37n -1 known missense c.791 p.C264Y 1.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_Trace_amine_rcpt - no_errors TAAR5 HGNC ENSG00000135569 128 0 0.00 39 116 74.84 - - - TAB3 0 genome.wustl.edu 37 X 30872538 30872538 + Frame_Shift_Del DEL G G - TCGA-A8-A07L-01A-11W-A019-09 TCGA-A8-A07L-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4cc86f29-061e-4058-8e8f-4c48191f52aa 44a4c963-3b68-4537-a0da-e47fe5f1d7ac X 30872538 30872538 G - DEL TAB3 ENST00000288422 human ensembl 69_37n -1 known frame_shift_del c.1244 p.S415fs 0.999 NULL pfam_CUE,pfam_Znf_RanBP2,superfamily_UBA-like,smart_CUE,smart_Znf_RanBP2,pfscan_CUE,pfscan_Znf_RanBP2 - no_errors TAB3 HGNC ENSG00000157625 150 0 0.00 113 29 20.28 - - - TAB3 0 genome.wustl.edu 37 X 30873405 30873405 + Nonsense_Mutation SNP G G T TCGA-A8-A07L-01A-11W-A019-09 TCGA-A8-A07L-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4cc86f29-061e-4058-8e8f-4c48191f52aa 44a4c963-3b68-4537-a0da-e47fe5f1d7ac X 30873405 30873405 G T SNP TAB3 ENST00000288422 human ensembl 69_37n -1 known nonsense c.377 p.S126* 1.000 NULL pfam_CUE,pfam_Znf_RanBP2,superfamily_UBA-like,smart_CUE,smart_Znf_RanBP2,pfscan_CUE,pfscan_Znf_RanBP2 - no_errors TAB3 HGNC ENSG00000157625 171 0 0.00 136 66 32.67 - - - TGFBRAP1 0 genome.wustl.edu 37 2 105883873 105883873 + Missense_Mutation SNP G G T TCGA-A8-A07L-01A-11W-A019-09 TCGA-A8-A07L-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4cc86f29-061e-4058-8e8f-4c48191f52aa 44a4c963-3b68-4537-a0da-e47fe5f1d7ac 2 105883873 105883873 G T SNP TGFBRAP1 ENST00000258449 human ensembl 69_37n -1 known missense c.2550 p.N850K 0.217 NULL pfam_VPS39/TGF_beta_rcpt-assoc_2,pfam_VPS39/TGF_beta_rcpt-assoc_1,pfam_Clathrin_H-chain/VPS_repeat,pfam_Citron - no_errors TGFBRAP1 HGNC ENSG00000135966 105 0 0.00 55 31 36.05 - - - TGM5 0 genome.wustl.edu 37 15 43525859 43525859 + Silent SNP C C T TCGA-A8-A07L-01A-11W-A019-09 TCGA-A8-A07L-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4cc86f29-061e-4058-8e8f-4c48191f52aa 44a4c963-3b68-4537-a0da-e47fe5f1d7ac 15 43525859 43525859 C T SNP TGM5 ENST00000220420 human ensembl 69_37n -1 known silent c.1902 p.Q634 0.996 pfam_Transglutaminase_C,superfamily_Transglutaminase_C pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM5 HGNC ENSG00000104055 101 0 0.00 71 33 31.73 - - - TMEM132A 0 genome.wustl.edu 37 11 60699533 60699534 + Frame_Shift_Ins INS - - G TCGA-A8-A07L-01A-11W-A019-09 TCGA-A8-A07L-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4cc86f29-061e-4058-8e8f-4c48191f52aa 44a4c963-3b68-4537-a0da-e47fe5f1d7ac 11 60699533 60699534 - G INS TMEM132A ENST00000005286 human ensembl 69_37n +1 known frame_shift_ins c.1293_1294 p.A433fs 0.001:0.988 NULL NULL - no_errors TMEM132A HGNC ENSG00000006118 29 0 0.00 13 2 13.33 - - - TYK2 0 genome.wustl.edu 37 19 10463112 10463113 + Frame_Shift_Ins INS - - G TCGA-A8-A07L-01A-11W-A019-09 TCGA-A8-A07L-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4cc86f29-061e-4058-8e8f-4c48191f52aa 44a4c963-3b68-4537-a0da-e47fe5f1d7ac 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 30 0 0.00 17 3 15.00 - - - ULBP1 0 genome.wustl.edu 37 6 150290226 150290226 + Missense_Mutation SNP C C T TCGA-A8-A07L-01A-11W-A019-09 TCGA-A8-A07L-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4cc86f29-061e-4058-8e8f-4c48191f52aa 44a4c963-3b68-4537-a0da-e47fe5f1d7ac 6 150290226 150290226 C T SNP ULBP1 ENST00000229708 human ensembl 69_37n +1 known missense c.355 p.L119F 0.001 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog - no_errors ULBP1 HGNC ENSG00000111981 70 0 0.00 22 60 73.17 - - - VCAN 0 genome.wustl.edu 37 5 82832924 82832924 + Missense_Mutation SNP A A C TCGA-A8-A07L-01A-11W-A019-09 TCGA-A8-A07L-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4cc86f29-061e-4058-8e8f-4c48191f52aa 44a4c963-3b68-4537-a0da-e47fe5f1d7ac 5 82832924 82832924 A C SNP VCAN ENST00000265077 human ensembl 69_37n +1 known missense c.4102 p.M1368L 0.003 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EGF-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Link,smart_EGF-like,smart_EGF-like_Ca-bd,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link - no_errors VCAN HGNC ENSG00000038427 198 0 0.00 135 98 42.06 - - - ZFP112 0 genome.wustl.edu 37 19 44831696 44831696 + Missense_Mutation SNP T T C TCGA-A8-A07L-01A-11W-A019-09 TCGA-A8-A07L-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4cc86f29-061e-4058-8e8f-4c48191f52aa 44a4c963-3b68-4537-a0da-e47fe5f1d7ac 19 44831696 44831696 T C SNP ZFP112 ENST00000536500 human ensembl 69_37n -1 known missense c.2683 p.I895V 0.002 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZFP112 HGNC ENSG00000062370 253 0 0.00 205 120 36.81 - - - ZNF572 0 genome.wustl.edu 37 8 125989263 125989263 + Missense_Mutation SNP A A T TCGA-A8-A07L-01A-11W-A019-09 TCGA-A8-A07L-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4cc86f29-061e-4058-8e8f-4c48191f52aa 44a4c963-3b68-4537-a0da-e47fe5f1d7ac 8 125989263 125989263 A T SNP ZNF572 ENST00000319286 human ensembl 69_37n +1 known missense c.753 p.K251N 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF572 HGNC ENSG00000180938 219 0 0.00 528 88 14.29 - - - ZNF831 0 genome.wustl.edu 37 20 57769139 57769140 + Frame_Shift_Ins INS - - G TCGA-A8-A07L-01A-11W-A019-09 TCGA-A8-A07L-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4cc86f29-061e-4058-8e8f-4c48191f52aa 44a4c963-3b68-4537-a0da-e47fe5f1d7ac 20 57769139 57769140 - G INS ZNF831 ENST00000371030 human ensembl 69_37n +1 novel frame_shift_ins c.3065_3066 p.D1025fs 0.000:0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF831 HGNC ENSG00000124203 18 0 0.00 26 4 13.33 - - - ZSWIM5 0 genome.wustl.edu 37 1 45516799 45516799 + Missense_Mutation SNP T T A TCGA-A8-A07L-01A-11W-A019-09 TCGA-A8-A07L-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4cc86f29-061e-4058-8e8f-4c48191f52aa 44a4c963-3b68-4537-a0da-e47fe5f1d7ac 1 45516799 45516799 T A SNP ZSWIM5 ENST00000359600 human ensembl 69_37n -1 known missense c.1379 p.H460L 1.000 NULL pfscan_Znf_SWIM - no_errors ZSWIM5 HGNC ENSG00000162415 144 0 0.00 93 85 47.75 - - -