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 ABR 0 genome.wustl.edu 37 17 953786 953786 + Missense_Mutation SNP C C A TCGA-AN-A0FT-01A-11W-A050-09 TCGA-AN-A0FT-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0598fc5f-9651-4ace-bf4e-56759d544e52 520abbc0-ff40-4a8e-b002-c36bac79cb72 17 953786 953786 C A SNP ABR ENST00000302538 human ensembl 69_37n -1 known missense c.1650 p.K550N 0.996 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting pfam_RhoGAP_dom,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_C2_Ca-dep,superfamily_Rho_GTPase_activation_prot,superfamily_DH-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RhoGAP_dom,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom,pfscan_DH-domain - no_errors ABR HGNC ENSG00000159842 76 0 0.00 47 25 34.72 - - - ACTB 0 genome.wustl.edu 37 7 5568037 5568037 + Frame_Shift_Del DEL T T - TCGA-AN-A0FT-01A-11W-A050-09 TCGA-AN-A0FT-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0598fc5f-9651-4ace-bf4e-56759d544e52 520abbc0-ff40-4a8e-b002-c36bac79cb72 7 5568037 5568037 T - DEL ACTB ENST00000331789 human ensembl 69_37n -1 known frame_shift_del c.677 p.E226fs 1.000 pfam_Actin-like,smart_Actin-like pfam_Actin-like,smart_Actin-like,prints_Actin-like - no_errors ACTB HGNC ENSG00000075624 28 0 0.00 38 24 38.10 - - - ADAMTS16 0 genome.wustl.edu 37 5 5186343 5186343 + Silent SNP C C T TCGA-AN-A0FT-01A-11W-A050-09 TCGA-AN-A0FT-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0598fc5f-9651-4ace-bf4e-56759d544e52 520abbc0-ff40-4a8e-b002-c36bac79cb72 5 5186343 5186343 C T SNP ADAMTS16 ENST00000274181 human ensembl 69_37n +1 known silent c.942 p.Y314 0.891 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS16 HGNC ENSG00000145536 35 0 0.00 41 11 21.15 - - - AGFG2 0 genome.wustl.edu 37 7 100151824 100151824 + Missense_Mutation SNP G G A TCGA-AN-A0FT-01A-11W-A050-09 TCGA-AN-A0FT-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0598fc5f-9651-4ace-bf4e-56759d544e52 520abbc0-ff40-4a8e-b002-c36bac79cb72 7 100151824 100151824 G A SNP AGFG2 ENST00000300176 human ensembl 69_37n +1 known missense c.694 p.D232N 1.000 NULL pfam_ArfGAP,superfamily_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP - no_errors AGFG2 HGNC ENSG00000106351 144 0 0.00 38 40 51.28 - - - AHRR 0 genome.wustl.edu 37 5 428000 428000 + Missense_Mutation SNP C C T TCGA-AN-A0FT-01A-11W-A050-09 TCGA-AN-A0FT-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0598fc5f-9651-4ace-bf4e-56759d544e52 520abbc0-ff40-4a8e-b002-c36bac79cb72 5 428000 428000 C T SNP AHRR ENST00000316418 human ensembl 69_37n +1 known missense c.853 p.R285W 0.948 NULL pfam_PAS_fold,pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,smart_PAS,pfscan_PAS,pfscan_HLH_DNA-bd - no_errors AHRR HGNC ENSG00000063438 72 0 0.00 24 8 25.00 - - - AMPD1 0 genome.wustl.edu 37 1 115226821 115226821 + Silent SNP T T C TCGA-AN-A0FT-01A-11W-A050-09 TCGA-AN-A0FT-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0598fc5f-9651-4ace-bf4e-56759d544e52 520abbc0-ff40-4a8e-b002-c36bac79cb72 1 115226821 115226821 T C SNP AMPD1 ENST00000520113 human ensembl 69_37n -1 known silent c.645 p.P215 1.000 pirsf_AMP_deaminase,tigrfam_AMP_deaminase pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase - no_errors AMPD1 HGNC ENSG00000116748 164 0 0.00 74 34 31.48 - - - ANO1 0 genome.wustl.edu 37 11 69957859 69957859 + Missense_Mutation SNP A A G TCGA-AN-A0FT-01A-11W-A050-09 TCGA-AN-A0FT-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0598fc5f-9651-4ace-bf4e-56759d544e52 520abbc0-ff40-4a8e-b002-c36bac79cb72 11 69957859 69957859 A G SNP ANO1 ENST00000530480 human ensembl 69_37n +1 novel missense c.440 p.H147R 0.015 NULL pfam_Anoctamin - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region ANO1 HGNC ENSG00000131620 117 0 0.00 70 11 13.58 - - - APOBR 0 genome.wustl.edu 37 16 28507283 28507283 + Silent SNP G G A TCGA-AN-A0FT-01A-11W-A050-09 TCGA-AN-A0FT-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0598fc5f-9651-4ace-bf4e-56759d544e52 520abbc0-ff40-4a8e-b002-c36bac79cb72 16 28507283 28507283 G A SNP APOBR ENST00000564831 human ensembl 69_37n +1 known silent c.921 p.G307 0.000 NULL NULL - no_errors APOBR HGNC ENSG00000184730 106 0 0.00 66 43 39.45 - - - ARHGEF26 0 genome.wustl.edu 37 3 153943651 153943651 + Missense_Mutation SNP C C T TCGA-AN-A0FT-01A-11W-A050-09 TCGA-AN-A0FT-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0598fc5f-9651-4ace-bf4e-56759d544e52 520abbc0-ff40-4a8e-b002-c36bac79cb72 3 153943651 153943651 C T SNP ARHGEF26 ENST00000356448 human ensembl 69_37n +1 known missense c.1942 p.P648S 1.000 NULL pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF26 HGNC ENSG00000114790 299 1 0.33 78 50 39.06 - - - ATP6V0D2 0 genome.wustl.edu 37 8 87165053 87165053 + Missense_Mutation SNP G G C TCGA-AN-A0FT-01A-11W-A050-09 TCGA-AN-A0FT-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0598fc5f-9651-4ace-bf4e-56759d544e52 520abbc0-ff40-4a8e-b002-c36bac79cb72 8 87165053 87165053 G C SNP ATP6V0D2 ENST00000285393 human ensembl 69_37n +1 known missense c.900 p.M300I 1.000 pfam_ATPase_V0/A0-cplx_csu/dsu,superfamily_ATPase_V0/A0-cplx_csu/dsu,pirsf_ATPase_V0-cplx_dsu pfam_ATPase_V0/A0-cplx_csu/dsu,superfamily_ATPase_V0/A0-cplx_csu/dsu,pirsf_ATPase_V0-cplx_dsu - no_errors ATP6V0D2 HGNC ENSG00000147614 164 0 0.00 133 81 37.85 - - - BAIAP2L1 0 genome.wustl.edu 37 7 97984400 97984400 + Silent SNP G G C TCGA-AN-A0FT-01A-11W-A050-09 TCGA-AN-A0FT-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0598fc5f-9651-4ace-bf4e-56759d544e52 520abbc0-ff40-4a8e-b002-c36bac79cb72 7 97984400 97984400 G C SNP BAIAP2L1 ENST00000005260 human ensembl 69_37n -1 known silent c.168 p.A56 1.000 pfam_IRSp53/MIM_homology_IMD pfam_IRSp53/MIM_homology_IMD,pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors BAIAP2L1 HGNC ENSG00000006453 122 0 0.00 56 13 18.84 - - - BCAN 0 genome.wustl.edu 37 1 156622303 156622303 + Missense_Mutation SNP C C T TCGA-AN-A0FT-01A-11W-A050-09 TCGA-AN-A0FT-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0598fc5f-9651-4ace-bf4e-56759d544e52 520abbc0-ff40-4a8e-b002-c36bac79cb72 1 156622303 156622303 C T SNP BCAN ENST00000329117 human ensembl 69_37n +1 known missense c.1561 p.P521S 0.001 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EGF-like_dom,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EGF-like,smart_C-type_lectin,smart_Sushi_SCR_CCP,prints_Link,prints_AntifreezeII,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like - no_errors BCAN HGNC ENSG00000132692 98 0 0.00 40 102 71.83 - - - BCR 0 genome.wustl.edu 37 22 23524047 23524047 + Missense_Mutation SNP G G C TCGA-AN-A0FT-01A-11W-A050-09 TCGA-AN-A0FT-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0598fc5f-9651-4ace-bf4e-56759d544e52 520abbc0-ff40-4a8e-b002-c36bac79cb72 22 23524047 23524047 G C SNP BCR ENST00000305877 human ensembl 69_37n +1 known missense c.900 p.Q300H 1.000 NULL pfam_RhoGAP_dom,pfam_Bcr-Abl_oncoprot_oligo,pfam_DH-domain,pfam_C2_Ca-dep,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_DH-domain,superfamily_Bcr-Abl_oncoprot_oligo,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RhoGAP_dom,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom,pfscan_DH-domain - no_errors BCR HGNC ENSG00000186716 22 0 0.00 2 10 83.33 - - - BNC1 0 genome.wustl.edu 37 15 83926275 83926275 + Silent SNP C C T TCGA-AN-A0FT-01A-11W-A050-09 TCGA-AN-A0FT-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0598fc5f-9651-4ace-bf4e-56759d544e52 520abbc0-ff40-4a8e-b002-c36bac79cb72 15 83926275 83926275 C T SNP BNC1 ENST00000345382 human ensembl 69_37n -1 known silent c.2904 p.S968 0.308 smart_Znf_C2H2-like smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BNC1 HGNC ENSG00000169594 115 0 0.00 49 28 36.36 - - - C15orf52 0 genome.wustl.edu 37 15 40627724 40627724 + Missense_Mutation SNP C C G TCGA-AN-A0FT-01A-11W-A050-09 TCGA-AN-A0FT-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0598fc5f-9651-4ace-bf4e-56759d544e52 520abbc0-ff40-4a8e-b002-c36bac79cb72 15 40627724 40627724 C G SNP C15orf52 ENST00000559313 human ensembl 69_37n -1 known missense c.1240 p.E414Q 0.000 NULL NULL - no_errors C15orf52 HGNC ENSG00000188549 43 0 0.00 19 4 17.39 - - - C9orf91 0 genome.wustl.edu 37 9 117405515 117405516 + Frame_Shift_Ins INS - - C TCGA-AN-A0FT-01A-11W-A050-09 TCGA-AN-A0FT-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0598fc5f-9651-4ace-bf4e-56759d544e52 520abbc0-ff40-4a8e-b002-c36bac79cb72 9 117405515 117405516 - C INS C9orf91 ENST00000374049 human ensembl 69_37n +1 known frame_shift_ins c.954_955 p.R319fs 0.004:0.001 NULL NULL - no_errors C9orf91 HGNC ENSG00000157693 147 0 0.00 69 20 22.47 - - - CAMSAP2 0 genome.wustl.edu 37 1 200816774 200816774 + Missense_Mutation SNP T T G TCGA-AN-A0FT-01A-11W-A050-09 TCGA-AN-A0FT-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0598fc5f-9651-4ace-bf4e-56759d544e52 520abbc0-ff40-4a8e-b002-c36bac79cb72 1 200816774 200816774 T G SNP CAMSAP2 ENST00000236925 human ensembl 69_37n +1 known missense c.1232 p.I411S 1.000 NULL pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrell-like,superfamily_CH-domain - no_errors CAMSAP2 HGNC ENSG00000118200 112 0 0.00 189 25 11.68 - - - CBL 0 genome.wustl.edu 37 11 119103359 119103359 + Missense_Mutation SNP T T C TCGA-AN-A0FT-01A-11W-A050-09 TCGA-AN-A0FT-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0598fc5f-9651-4ace-bf4e-56759d544e52 520abbc0-ff40-4a8e-b002-c36bac79cb72 11 119103359 119103359 T C SNP CBL ENST00000264033 human ensembl 69_37n +1 known missense c.397 p.F133L 1.000 pfam_Adaptor_Cbl_N_hlx,superfamily_Adaptor_Cbl_N_hlx pfam_Adaptor_Cbl_N_hlx,pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Znf_C3HC4_RING-type,pfam_UBA/transl_elong_EF1B_N,superfamily_Adaptor_Cbl_N_hlx,superfamily_UBA-like,smart_Znf_RING,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_RING - no_errors CBL HGNC ENSG00000110395 113 0 0.00 56 15 21.13 - - - CCDC171 0 genome.wustl.edu 37 9 15744698 15744698 + Missense_Mutation SNP C C A TCGA-AN-A0FT-01A-11W-A050-09 TCGA-AN-A0FT-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0598fc5f-9651-4ace-bf4e-56759d544e52 520abbc0-ff40-4a8e-b002-c36bac79cb72 9 15744698 15744698 C A SNP CCDC171 ENST00000380701 human ensembl 69_37n +1 known missense c.2477 p.T826N 1.000 NULL superfamily_STAT_TF_coiled-coil - no_errors CCDC171 HGNC ENSG00000164989 90 0 0.00 69 26 27.08 - - - CD5L 0 genome.wustl.edu 37 1 157805682 157805682 + Missense_Mutation SNP C C G TCGA-AN-A0FT-01A-11W-A050-09 TCGA-AN-A0FT-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0598fc5f-9651-4ace-bf4e-56759d544e52 520abbc0-ff40-4a8e-b002-c36bac79cb72 1 157805682 157805682 C G SNP CD5L ENST00000368174 human ensembl 69_37n -1 known missense c.319 p.E107Q 0.003 pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_Srcr_rcpt,pfscan_Srcr_rcpt - no_errors CD5L HGNC ENSG00000073754 73 0 0.00 58 49 45.79 - - - CD9 0 genome.wustl.edu 37 12 6344725 6344725 + Silent SNP C C G TCGA-AN-A0FT-01A-11W-A050-09 TCGA-AN-A0FT-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0598fc5f-9651-4ace-bf4e-56759d544e52 520abbc0-ff40-4a8e-b002-c36bac79cb72 12 6344725 6344725 C G SNP CD9 ENST00000009180 human ensembl 69_37n +1 known silent c.531 p.T177 0.000 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors CD9 HGNC ENSG00000010278 190 0 0.00 96 82 45.81 - - - CHL1 0 genome.wustl.edu 37 3 430976 430976 + Silent SNP C C T TCGA-AN-A0FT-01A-11W-A050-09 TCGA-AN-A0FT-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0598fc5f-9651-4ace-bf4e-56759d544e52 520abbc0-ff40-4a8e-b002-c36bac79cb72 3 430976 430976 C T SNP CHL1 ENST00000256509 human ensembl 69_37n +1 known silent c.2289 p.Y763 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 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 CHL1 HGNC ENSG00000134121 143 0 0.00 89 15 14.42 - - - CNNM2 0 genome.wustl.edu 37 10 104816684 104816684 + Missense_Mutation SNP G G A TCGA-AN-A0FT-01A-11W-A050-09 TCGA-AN-A0FT-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0598fc5f-9651-4ace-bf4e-56759d544e52 520abbc0-ff40-4a8e-b002-c36bac79cb72 10 104816684 104816684 G A SNP CNNM2 ENST00000457502 human ensembl 69_37n +1 known missense c.2039 p.R680H 1.000 superfamily_cNMP-bd-like pfam_DUF21,superfamily_cNMP-bd-like - no_errors CNNM2 HGNC ENSG00000148842 171 0 0.00 87 12 12.12 - - - COLEC12 0 genome.wustl.edu 37 18 357409 357409 + Nonsense_Mutation SNP C C A TCGA-AN-A0FT-01A-11W-A050-09 TCGA-AN-A0FT-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0598fc5f-9651-4ace-bf4e-56759d544e52 520abbc0-ff40-4a8e-b002-c36bac79cb72 18 357409 357409 C A SNP COLEC12 ENST00000400256 human ensembl 69_37n -1 known nonsense c.172 p.G58* 1.000 NULL pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin - no_errors COLEC12 HGNC ENSG00000158270 191 0 0.00 186 32 14.68 - - - CRAMP1L 0 genome.wustl.edu 37 16 1724028 1724028 + Silent SNP C C G TCGA-AN-A0FT-01A-11W-A050-09 TCGA-AN-A0FT-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0598fc5f-9651-4ace-bf4e-56759d544e52 520abbc0-ff40-4a8e-b002-c36bac79cb72 16 1724028 1724028 C G SNP CRAMP1L ENST00000293925 human ensembl 69_37n +1 known silent c.3792 p.V1264 0.000 NULL superfamily_Homeodomain-like,smart_SANT/Myb - no_errors CRAMP1L HGNC ENSG00000007545 33 0 0.00 11 18 62.07 - - - CTDSP1 0 genome.wustl.edu 37 2 219266840 219266840 + Missense_Mutation SNP C C T TCGA-AN-A0FT-01A-11W-A050-09 TCGA-AN-A0FT-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0598fc5f-9651-4ace-bf4e-56759d544e52 520abbc0-ff40-4a8e-b002-c36bac79cb72 2 219266840 219266840 C T SNP CTDSP1 ENST00000273062 human ensembl 69_37n +1 known missense c.223 p.P75S 1.000 NULL pfam_NIF,superfamily_HAD-like_dom,smart_NIF,pfscan_NIF,tigrfam_Dullard_phosphatase - no_errors CTDSP1 HGNC ENSG00000144579 45 0 0.00 10 7 41.18 - - - CYP2S1 0 genome.wustl.edu 37 19 41704619 41704619 + Silent SNP C C T TCGA-AN-A0FT-01A-11W-A050-09 TCGA-AN-A0FT-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0598fc5f-9651-4ace-bf4e-56759d544e52 520abbc0-ff40-4a8e-b002-c36bac79cb72 19 41704619 41704619 C T SNP CYP2S1 ENST00000310054 human ensembl 69_37n +1 known silent c.660 p.Y220 0.025 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I_CYP2B-like,prints_Cyt_P450_B pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-I_CYP2A-like,prints_Cyt_P450_E_grp-I_CYP2B-like,prints_Cyt_P450_B - no_errors CYP2S1 HGNC ENSG00000167600 389 0 0.00 249 103 29.26 - - - DDX58 0 genome.wustl.edu 37 9 32481365 32481365 + Silent SNP G G C TCGA-AN-A0FT-01A-11W-A050-09 TCGA-AN-A0FT-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0598fc5f-9651-4ace-bf4e-56759d544e52 520abbc0-ff40-4a8e-b002-c36bac79cb72 9 32481365 32481365 G C SNP DDX58 ENST00000379883 human ensembl 69_37n -1 known silent c.1611 p.A537 0.003 NULL pfam_RIG-I_C-RD,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_DEATH-like,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX58 HGNC ENSG00000107201 180 0 0.00 145 49 25.26 - - - DDX58 0 genome.wustl.edu 37 9 32481395 32481395 + Silent SNP G G A TCGA-AN-A0FT-01A-11W-A050-09 TCGA-AN-A0FT-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0598fc5f-9651-4ace-bf4e-56759d544e52 520abbc0-ff40-4a8e-b002-c36bac79cb72 9 32481395 32481395 G A SNP DDX58 ENST00000379883 human ensembl 69_37n -1 known silent c.1581 p.D527 1.000 NULL pfam_RIG-I_C-RD,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_DEATH-like,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX58 HGNC ENSG00000107201 223 0 0.00 96 149 60.82 - - - DHRS13 0 genome.wustl.edu 37 17 27228017 27228017 + Missense_Mutation SNP C C A TCGA-AN-A0FT-01A-11W-A050-09 TCGA-AN-A0FT-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0598fc5f-9651-4ace-bf4e-56759d544e52 520abbc0-ff40-4a8e-b002-c36bac79cb72 17 27228017 27228017 C A SNP DHRS13 ENST00000378895 human ensembl 69_37n -1 known missense c.673 p.A225S 0.998 prints_Glc/ribitol_DH pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH - no_errors DHRS13 HGNC ENSG00000167536 85 0 0.00 356 96 21.24 - - - DMD 0 genome.wustl.edu 37 X 32364092 32364092 + Nonsense_Mutation SNP G G A TCGA-AN-A0FT-01A-11W-A050-09 TCGA-AN-A0FT-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0598fc5f-9651-4ace-bf4e-56759d544e52 520abbc0-ff40-4a8e-b002-c36bac79cb72 X 32364092 32364092 G A SNP DMD ENST00000357033 human ensembl 69_37n -1 known nonsense c.5554 p.Q1852* 1.000 smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 202 1 0.49 80 16 16.67 - - - DNAH6 0 genome.wustl.edu 37 2 84940260 84940260 + Missense_Mutation SNP G G C TCGA-AN-A0FT-01A-11W-A050-09 TCGA-AN-A0FT-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0598fc5f-9651-4ace-bf4e-56759d544e52 520abbc0-ff40-4a8e-b002-c36bac79cb72 2 84940260 84940260 G C SNP DNAH6 ENST00000237449 human ensembl 69_37n +1 known missense c.9420 p.L3140F 1.000 NULL pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH6 HGNC ENSG00000115423 471 0 0.00 157 116 42.49 - - - DPP6 0 genome.wustl.edu 37 7 154172083 154172083 + Missense_Mutation SNP G G T TCGA-AN-A0FT-01A-11W-A050-09 TCGA-AN-A0FT-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0598fc5f-9651-4ace-bf4e-56759d544e52 520abbc0-ff40-4a8e-b002-c36bac79cb72 7 154172083 154172083 G T SNP DPP6 ENST00000377770 human ensembl 69_37n +1 known missense c.418 p.D140Y 0.988 NULL pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_PD40 - no_errors DPP6 HGNC ENSG00000130226 149 0 0.00 49 18 26.87 - - - ELOVL5 0 genome.wustl.edu 37 6 53139934 53139934 + Frame_Shift_Del DEL C C - TCGA-AN-A0FT-01A-11W-A050-09 TCGA-AN-A0FT-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0598fc5f-9651-4ace-bf4e-56759d544e52 520abbc0-ff40-4a8e-b002-c36bac79cb72 6 53139934 53139934 C - DEL ELOVL5 ENST00000541407 human ensembl 69_37n -1 known frame_shift_del c.531 p.M177fs 1.000 pfam_GNS1_SUR4 pfam_GNS1_SUR4 - no_errors ELOVL5 HGNC ENSG00000012660 140 0 0.00 79 25 23.15 - - - ERG 0 genome.wustl.edu 37 21 39817365 39817365 + Silent SNP G G A TCGA-AN-A0FT-01A-11W-A050-09 TCGA-AN-A0FT-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0598fc5f-9651-4ace-bf4e-56759d544e52 520abbc0-ff40-4a8e-b002-c36bac79cb72 21 39817365 39817365 G A SNP ERG ENST00000398919 human ensembl 69_37n -1 known silent c.219 p.I73 1.000 NULL pfam_Ets,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets,prints_Ets,pfscan_Ets - no_errors ERG HGNC ENSG00000157554 109 0 0.00 124 33 20.89 - - - EXOC6 0 genome.wustl.edu 37 10 94688180 94688181 + Splice_Site INS - - T TCGA-AN-A0FT-01A-11W-A050-09 TCGA-AN-A0FT-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0598fc5f-9651-4ace-bf4e-56759d544e52 520abbc0-ff40-4a8e-b002-c36bac79cb72 10 94688180 94688181 - T INS EXOC6 ENST00000371547 human ensembl 69_37n +1 known splice_site_ins c.1020+1_1020+1 e10+1 1.000:1.000 - - - no_errors EXOC6 HGNC ENSG00000138190 159 0 0.00 129 52 28.73 - - - FLT3 0 genome.wustl.edu 37 13 28602382 28602382 + Silent SNP G G A TCGA-AN-A0FT-01A-11W-A050-09 TCGA-AN-A0FT-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0598fc5f-9651-4ace-bf4e-56759d544e52 520abbc0-ff40-4a8e-b002-c36bac79cb72 13 28602382 28602382 G A SNP FLT3 ENST00000380982 human ensembl 69_37n -1 known silent c.1986 p.L662 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 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors FLT3 HGNC ENSG00000122025 62 0 0.00 66 10 13.16 - - - GANAB 0 genome.wustl.edu 37 11 62396294 62396294 + Missense_Mutation SNP G G A TCGA-AN-A0FT-01A-11W-A050-09 TCGA-AN-A0FT-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0598fc5f-9651-4ace-bf4e-56759d544e52 520abbc0-ff40-4a8e-b002-c36bac79cb72 11 62396294 62396294 G A SNP GANAB ENST00000531841 human ensembl 69_37n -1 known missense c.184 p.L62F 0.997 NULL NULL - no_errors GANAB HGNC ENSG00000089597 125 0 0.00 19 70 78.65 - - - GIMAP8 0 genome.wustl.edu 37 7 150171135 150171135 + Missense_Mutation SNP G G A TCGA-AN-A0FT-01A-11W-A050-09 TCGA-AN-A0FT-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0598fc5f-9651-4ace-bf4e-56759d544e52 520abbc0-ff40-4a8e-b002-c36bac79cb72 7 150171135 150171135 G A SNP GIMAP8 ENST00000307271 human ensembl 69_37n +1 known missense c.718 p.E240K 0.000 NULL pfam_AIG1 - no_errors GIMAP8 HGNC ENSG00000171115 133 0 0.00 79 23 22.55 - - - HEY2 0 genome.wustl.edu 37 6 126080572 126080572 + Missense_Mutation SNP C C T TCGA-AN-A0FT-01A-11W-A050-09 TCGA-AN-A0FT-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0598fc5f-9651-4ace-bf4e-56759d544e52 520abbc0-ff40-4a8e-b002-c36bac79cb72 6 126080572 126080572 C T SNP HEY2 ENST00000368364 human ensembl 69_37n +1 known missense c.638 p.S213F 0.910 NULL pfam_HLH_DNA-bd,pfam_Orange,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,smart_Orange_subgr,pfscan_Orange,pfscan_HLH_DNA-bd,prints_Antifreeze_1 - no_errors HEY2 HGNC ENSG00000135547 34 0 0.00 24 8 25.00 - - - IREB2 0 genome.wustl.edu 37 15 78757626 78757626 + Missense_Mutation SNP G G A TCGA-AN-A0FT-01A-11W-A050-09 TCGA-AN-A0FT-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0598fc5f-9651-4ace-bf4e-56759d544e52 520abbc0-ff40-4a8e-b002-c36bac79cb72 15 78757626 78757626 G A SNP IREB2 ENST00000258886 human ensembl 69_37n +1 known missense c.306 p.M102I 1.000 pfam_Acoase/IPM_deHydtase_lsu_aba,superfamily_Acoase/IPM_deHydtase_lsu_aba pfam_Acoase/IPM_deHydtase_lsu_aba,pfam_AconitaseA/IPMdHydase_ssu_swvl,superfamily_Acoase/IPM_deHydtase_lsu_aba,superfamily_Aconitase/3IPM_dehydase_swvl,prints_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase/Fe_reg_prot_2 - no_errors IREB2 HGNC ENSG00000136381 209 0 0.00 79 19 19.39 - - - IRX3 0 genome.wustl.edu 37 16 54319414 54319414 + Frame_Shift_Del DEL C C - TCGA-AN-A0FT-01A-11W-A050-09 TCGA-AN-A0FT-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0598fc5f-9651-4ace-bf4e-56759d544e52 520abbc0-ff40-4a8e-b002-c36bac79cb72 16 54319414 54319414 C - DEL IRX3 ENST00000329734 human ensembl 69_37n -1 known frame_shift_del c.379 p.D127fs 1.000 superfamily_Homeodomain-like pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,smart_Iroquois_homeo,pfscan_Homeodomain - no_errors IRX3 HGNC ENSG00000177508 160 0 0.00 62 59 48.76 - - - IWS1 0 genome.wustl.edu 37 2 128253598 128253598 + Silent SNP G G A TCGA-AN-A0FT-01A-11W-A050-09 TCGA-AN-A0FT-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0598fc5f-9651-4ace-bf4e-56759d544e52 520abbc0-ff40-4a8e-b002-c36bac79cb72 2 128253598 128253598 G A SNP IWS1 ENST00000295321 human ensembl 69_37n -1 known silent c.1692 p.I564 0.136 NULL pfam_TFIIS_N,superfamily_TFIIS_N - no_errors IWS1 HGNC ENSG00000163166 180 0 0.00 126 72 36.36 - - - KANK3 0 genome.wustl.edu 37 19 8399296 8399296 + Silent SNP G G C TCGA-AN-A0FT-01A-11W-A050-09 TCGA-AN-A0FT-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0598fc5f-9651-4ace-bf4e-56759d544e52 520abbc0-ff40-4a8e-b002-c36bac79cb72 19 8399296 8399296 G C SNP KANK3 ENST00000330915 human ensembl 69_37n -1 known silent c.1335 p.L445 1.000 NULL pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors KANK3 HGNC ENSG00000186994 41 0 0.00 15 8 34.78 - - - KCNH8 0 genome.wustl.edu 37 3 19575051 19575051 + Nonsense_Mutation SNP G G A TCGA-AN-A0FT-01A-11W-A050-09 TCGA-AN-A0FT-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0598fc5f-9651-4ace-bf4e-56759d544e52 520abbc0-ff40-4a8e-b002-c36bac79cb72 3 19575051 19575051 G A SNP KCNH8 ENST00000328405 human ensembl 69_37n +1 known nonsense c.2784 p.W928* 1.000 NULL pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_Ion_trans_2,pfam_PAS_fold_3,pfam_PAS_4,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_tRNA-bd_arm,smart_PAC,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_EAG,tigrfam_PAS - no_errors KCNH8 HGNC ENSG00000183960 185 0 0.00 141 20 12.35 - - - KCNN2 0 genome.wustl.edu 37 5 113740533 113740533 + Nonsense_Mutation SNP G G A TCGA-AN-A0FT-01A-11W-A050-09 TCGA-AN-A0FT-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0598fc5f-9651-4ace-bf4e-56759d544e52 520abbc0-ff40-4a8e-b002-c36bac79cb72 5 113740533 113740533 G A SNP KCNN2 ENST00000264773 human ensembl 69_37n +1 known nonsense c.981 p.W327* 1.000 pfam_Ion_trans_2 pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_Ion_trans_2,superfamily_CaM-bd_dom,prints_K_chnl_Ca-activ_SK - no_errors KCNN2 HGNC ENSG00000080709 101 0 0.00 99 15 13.04 - - - KIAA1715 0 genome.wustl.edu 37 2 176857117 176857117 + Missense_Mutation SNP T T A TCGA-AN-A0FT-01A-11W-A050-09 TCGA-AN-A0FT-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0598fc5f-9651-4ace-bf4e-56759d544e52 520abbc0-ff40-4a8e-b002-c36bac79cb72 2 176857117 176857117 T A SNP KIAA1715 ENST00000544803 human ensembl 69_37n -1 known missense c.99 p.E33D 0.997 NULL pfam_DUF2296 - no_errors KIAA1715 HGNC ENSG00000144320 160 0 0.00 84 21 20.00 - - - KIF1A 0 genome.wustl.edu 37 2 241713623 241713623 + Nonsense_Mutation SNP G G A TCGA-AN-A0FT-01A-11W-A050-09 TCGA-AN-A0FT-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0598fc5f-9651-4ace-bf4e-56759d544e52 520abbc0-ff40-4a8e-b002-c36bac79cb72 2 241713623 241713623 G A SNP KIF1A ENST00000428768 human ensembl 69_37n -1 novel nonsense c.436 p.R146* 0.799 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region KIF1A HGNC ENSG00000130294 49 0 0.00 12 12 50.00 - - - KIF21B 0 genome.wustl.edu 37 1 200973933 200973933 + Silent SNP G G A TCGA-AN-A0FT-01A-11W-A050-09 TCGA-AN-A0FT-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0598fc5f-9651-4ace-bf4e-56759d544e52 520abbc0-ff40-4a8e-b002-c36bac79cb72 1 200973933 200973933 G A SNP KIF21B ENST00000422435 human ensembl 69_37n -1 known silent c.861 p.G287 1.000 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Prefoldin,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom - no_errors KIF21B HGNC ENSG00000116852 37 0 0.00 42 30 41.10 - - - KIF26B 0 genome.wustl.edu 37 1 245850728 245850728 + Silent SNP C C T TCGA-AN-A0FT-01A-11W-A050-09 TCGA-AN-A0FT-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0598fc5f-9651-4ace-bf4e-56759d544e52 520abbc0-ff40-4a8e-b002-c36bac79cb72 1 245850728 245850728 C T SNP KIF26B ENST00000407071 human ensembl 69_37n +1 known silent c.4443 p.D1481 0.001 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF26B HGNC ENSG00000162849 16 0 0.00 25 6 19.35 - - - KRTAP10-2 0 genome.wustl.edu 37 21 45970680 45970680 + Missense_Mutation SNP G G C TCGA-AN-A0FT-01A-11W-A050-09 TCGA-AN-A0FT-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0598fc5f-9651-4ace-bf4e-56759d544e52 520abbc0-ff40-4a8e-b002-c36bac79cb72 21 45970680 45970680 G C SNP KRTAP10-2 ENST00000391621 human ensembl 69_37n -1 known missense c.662 p.T221S 0.015 NULL NULL - no_errors KRTAP10-2 HGNC ENSG00000205445 95 0 0.00 92 15 14.02 - - - KRTAP10-7 0 genome.wustl.edu 37 21 46020575 46020575 + Silent SNP C C T TCGA-AN-A0FT-01A-11W-A050-09 TCGA-AN-A0FT-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0598fc5f-9651-4ace-bf4e-56759d544e52 520abbc0-ff40-4a8e-b002-c36bac79cb72 21 46020575 46020575 C T SNP KRTAP10-7 ENST00000380102 human ensembl 69_37n +1 known silent c.54 p.R18 0.001 NULL NULL - no_errors KRTAP10-7 HGNC ENSG00000205441 154 0 0.00 109 64 36.78 - - - KRTAP4-16P 0 genome.wustl.edu 37 17 39258148 39258148 + Missense_Mutation SNP T T G TCGA-AN-A0FT-01A-11W-A050-09 TCGA-AN-A0FT-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0598fc5f-9651-4ace-bf4e-56759d544e52 520abbc0-ff40-4a8e-b002-c36bac79cb72 17 39258148 39258148 T G SNP KRTAP4-16P ENST00000440582 human ensembl 69_37n -1 putative missense c.314 p.H105P 0.001 NULL NULL - no_errors KRTAP4-16P HGNC ENSG00000241241 21 0 0.00 14 8 34.78 - - - LEO1 0 genome.wustl.edu 37 15 52244140 52244140 + Missense_Mutation SNP C C T TCGA-AN-A0FT-01A-11W-A050-09 TCGA-AN-A0FT-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0598fc5f-9651-4ace-bf4e-56759d544e52 520abbc0-ff40-4a8e-b002-c36bac79cb72 15 52244140 52244140 C T SNP LEO1 ENST00000299601 human ensembl 69_37n -1 known missense c.1512 p.M504I 1.000 pfam_Leo1 pfam_Leo1 - no_errors LEO1 HGNC ENSG00000166477 135 0 0.00 34 69 66.99 - - - LGALSL 0 genome.wustl.edu 37 2 64683480 64683480 + Missense_Mutation SNP G G A TCGA-AN-A0FT-01A-11W-A050-09 TCGA-AN-A0FT-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0598fc5f-9651-4ace-bf4e-56759d544e52 520abbc0-ff40-4a8e-b002-c36bac79cb72 2 64683480 64683480 G A SNP LGALSL ENST00000238875 human ensembl 69_37n +1 novel missense c.256 p.E86K 1.000 pfam_Galectin_CRD,superfamily_ConA-like_lec_gl,smart_Galectin_CRD pfam_Galectin_CRD,superfamily_ConA-like_lec_gl,smart_Galectin_CRD - no_errors LGALSL HGNC ENSG00000119862 52 0 0.00 18 6 25.00 - - - LRP1 0 genome.wustl.edu 37 12 57595392 57595392 + Silent SNP C C T TCGA-AN-A0FT-01A-11W-A050-09 TCGA-AN-A0FT-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0598fc5f-9651-4ace-bf4e-56759d544e52 520abbc0-ff40-4a8e-b002-c36bac79cb72 12 57595392 57595392 C T SNP LRP1 ENST00000243077 human ensembl 69_37n +1 known silent c.10458 p.P3486 0.001 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_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 50 0 0.00 31 6 16.22 - - - MOS 0 genome.wustl.edu 37 8 57026280 57026280 + Nonsense_Mutation SNP G G A TCGA-AN-A0FT-01A-11W-A050-09 TCGA-AN-A0FT-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0598fc5f-9651-4ace-bf4e-56759d544e52 520abbc0-ff40-4a8e-b002-c36bac79cb72 8 57026280 57026280 G A SNP MOS ENST00000311923 human ensembl 69_37n -1 known nonsense c.262 p.Q88* 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors MOS HGNC ENSG00000172680 50 0 0.00 56 8 12.50 - - - MRPL51 0 genome.wustl.edu 37 12 6602122 6602122 + Silent SNP G G T TCGA-AN-A0FT-01A-11W-A050-09 TCGA-AN-A0FT-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0598fc5f-9651-4ace-bf4e-56759d544e52 520abbc0-ff40-4a8e-b002-c36bac79cb72 12 6602122 6602122 G T SNP MRPL51 ENST00000229238 human ensembl 69_37n -1 known silent c.96 p.I32 0.000 NULL pfam_Ribosomal_L51_mit - no_errors MRPL51 HGNC ENSG00000111639 108 0 0.00 104 18 14.75 - - - NEDD9 0 genome.wustl.edu 37 6 11188468 11188468 + Nonsense_Mutation SNP G G A TCGA-AN-A0FT-01A-11W-A050-09 TCGA-AN-A0FT-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0598fc5f-9651-4ace-bf4e-56759d544e52 520abbc0-ff40-4a8e-b002-c36bac79cb72 6 11188468 11188468 G A SNP NEDD9 ENST00000379446 human ensembl 69_37n -1 known nonsense c.1978 p.Q660* 1.000 pfam_CAS_DUF3513 pfam_CAS_DUF3513,pfam_Serine_rich,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors NEDD9 HGNC ENSG00000111859 310 1 0.32 228 33 12.64 - - - NFASC 0 genome.wustl.edu 37 1 204937936 204937937 + Frame_Shift_Ins INS - - AT TCGA-AN-A0FT-01A-11W-A050-09 TCGA-AN-A0FT-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0598fc5f-9651-4ace-bf4e-56759d544e52 520abbc0-ff40-4a8e-b002-c36bac79cb72 1 204937936 204937937 - AT INS NFASC ENST00000367172 human ensembl 69_37n +1 known frame_shift_ins c.829_830 p.I278fs 1.000:1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors NFASC HGNC ENSG00000163531 86 0 0.00 133 35 20.83 - - - NHP2 0 genome.wustl.edu 37 5 177576773 177576773 + Missense_Mutation SNP A A G TCGA-AN-A0FT-01A-11W-A050-09 TCGA-AN-A0FT-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0598fc5f-9651-4ace-bf4e-56759d544e52 520abbc0-ff40-4a8e-b002-c36bac79cb72 5 177576773 177576773 A G SNP NHP2 ENST00000274606 human ensembl 69_37n -1 known missense c.403 p.Y135H 1.000 pfam_Ribosomal_L7Ae/L30e/S12e/Gad45 pfam_Ribosomal_L7Ae/L30e/S12e/Gad45,prints_Ribosomal_L7Ae/L8/Nhp2,prints_H/ACA_rnp_Nhp2_euk - no_errors NHP2 HGNC ENSG00000145912 61 0 0.00 35 4 10.26 - - - NR4A1 0 genome.wustl.edu 37 12 52448565 52448565 + Silent SNP C C G TCGA-AN-A0FT-01A-11W-A050-09 TCGA-AN-A0FT-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0598fc5f-9651-4ace-bf4e-56759d544e52 520abbc0-ff40-4a8e-b002-c36bac79cb72 12 52448565 52448565 C G SNP NR4A1 ENST00000545748 human ensembl 69_37n +1 known silent c.615 p.L205 0.987 prints_Nuc_orph_rcpt 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,prints_Nuc_orph_rcpt,prints_Nuc_orp_HMR_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt - no_errors NR4A1 HGNC ENSG00000123358 58 0 0.00 37 18 32.73 - - - OBSCN 0 genome.wustl.edu 37 1 228547542 228547542 + Missense_Mutation SNP G G A TCGA-AN-A0FT-01A-11W-A050-09 TCGA-AN-A0FT-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0598fc5f-9651-4ace-bf4e-56759d544e52 520abbc0-ff40-4a8e-b002-c36bac79cb72 1 228547542 228547542 G A SNP OBSCN ENST00000366709 human ensembl 69_37n +1 known missense c.10306 p.G3436R 0.000 NULL pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_DH-domain,pfam_Fibronectin_type3,pfam_IQ_motif_EF-hand-BS,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Ig-like,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 18 0 0.00 8 7 46.67 - - - OR10H2 0 genome.wustl.edu 37 19 15838899 15838899 + Missense_Mutation SNP G G A TCGA-AN-A0FT-01A-11W-A050-09 TCGA-AN-A0FT-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0598fc5f-9651-4ace-bf4e-56759d544e52 520abbc0-ff40-4a8e-b002-c36bac79cb72 19 15838899 15838899 G A SNP OR10H2 ENST00000305899 human ensembl 69_37n +1 known missense c.46 p.G16S 0.326 NULL pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR10H2 HGNC ENSG00000171942 557 0 0.00 582 153 20.82 - - - PCDHA2 0 genome.wustl.edu 37 5 140176837 140176838 + Frame_Shift_Ins INS - - C TCGA-AN-A0FT-01A-11W-A050-09 TCGA-AN-A0FT-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0598fc5f-9651-4ace-bf4e-56759d544e52 520abbc0-ff40-4a8e-b002-c36bac79cb72 5 140176837 140176838 - C INS PCDHA2 ENST00000526136 human ensembl 69_37n +1 known frame_shift_ins c.2288_2289 p.K766fs 0.292:0.004 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA2 HGNC ENSG00000204969 64 0 0.00 23 5 17.86 - - - PCDHA9 0 genome.wustl.edu 37 5 140228577 140228577 + Missense_Mutation SNP C C T TCGA-AN-A0FT-01A-11W-A050-09 TCGA-AN-A0FT-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0598fc5f-9651-4ace-bf4e-56759d544e52 520abbc0-ff40-4a8e-b002-c36bac79cb72 5 140228577 140228577 C T SNP PCDHA9 ENST00000532602 human ensembl 69_37n +1 known missense c.497 p.A166V 0.980 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHA9 HGNC ENSG00000204961 34 0 0.00 27 4 12.90 - - - PDS5A 0 genome.wustl.edu 37 4 39924337 39924337 + Missense_Mutation SNP T T C TCGA-AN-A0FT-01A-11W-A050-09 TCGA-AN-A0FT-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0598fc5f-9651-4ace-bf4e-56759d544e52 520abbc0-ff40-4a8e-b002-c36bac79cb72 4 39924337 39924337 T C SNP PDS5A ENST00000303538 human ensembl 69_37n -1 known missense c.559 p.M187V 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors PDS5A HGNC ENSG00000121892 117 0 0.00 81 28 25.69 - - - PHLDA1 0 genome.wustl.edu 37 12 76424354 76424354 + Missense_Mutation SNP C C G TCGA-AN-A0FT-01A-11W-A050-09 TCGA-AN-A0FT-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0598fc5f-9651-4ace-bf4e-56759d544e52 520abbc0-ff40-4a8e-b002-c36bac79cb72 12 76424354 76424354 C G SNP PHLDA1 ENST00000266671 human ensembl 69_37n -1 known missense c.1168 p.G390R 1.000 NULL smart_Pleckstrin_homology - no_errors PHLDA1 HGNC ENSG00000139289 504 1 0.20 220 64 22.46 - - - PLA2G4A 0 genome.wustl.edu 37 1 186880523 186880523 + Splice_Site SNP T T A TCGA-AN-A0FT-01A-11W-A050-09 TCGA-AN-A0FT-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0598fc5f-9651-4ace-bf4e-56759d544e52 520abbc0-ff40-4a8e-b002-c36bac79cb72 1 186880523 186880523 T A SNP PLA2G4A ENST00000367466 human ensembl 69_37n +1 known splice_site c.558+2 e6+2 1.000 - - - no_errors PLA2G4A HGNC ENSG00000116711 117 0 0.00 106 20 15.87 - - - PLCH1 0 genome.wustl.edu 37 3 155303908 155303908 + Silent SNP C C A TCGA-AN-A0FT-01A-11W-A050-09 TCGA-AN-A0FT-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0598fc5f-9651-4ace-bf4e-56759d544e52 520abbc0-ff40-4a8e-b002-c36bac79cb72 3 155303908 155303908 C A SNP PLCH1 ENST00000340059 human ensembl 69_37n -1 known silent c.510 p.L170 0.999 smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_EF_hand_Ca-bd,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCH1 HGNC ENSG00000114805 108 0 0.00 43 25 36.76 - - - PLEKHM3 0 genome.wustl.edu 37 2 208841408 208841408 + Nonsense_Mutation SNP G G A TCGA-AN-A0FT-01A-11W-A050-09 TCGA-AN-A0FT-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0598fc5f-9651-4ace-bf4e-56759d544e52 520abbc0-ff40-4a8e-b002-c36bac79cb72 2 208841408 208841408 G A SNP PLEKHM3 ENST00000427836 human ensembl 69_37n -1 known nonsense c.1513 p.R505* 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHM3 HGNC ENSG00000178385 177 0 0.00 70 73 51.05 - - - PTPRS 0 genome.wustl.edu 37 19 5212055 5212055 + Missense_Mutation SNP C C T TCGA-AN-A0FT-01A-11W-A050-09 TCGA-AN-A0FT-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0598fc5f-9651-4ace-bf4e-56759d544e52 520abbc0-ff40-4a8e-b002-c36bac79cb72 19 5212055 5212055 C T SNP PTPRS ENST00000372412 human ensembl 69_37n -1 known missense c.4979 p.R1660H 1.000 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like - no_errors PTPRS HGNC ENSG00000105426 34 0 0.00 19 6 24.00 - - - RIN2 0 genome.wustl.edu 37 20 19945639 19945639 + Missense_Mutation SNP C C G TCGA-AN-A0FT-01A-11W-A050-09 TCGA-AN-A0FT-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0598fc5f-9651-4ace-bf4e-56759d544e52 520abbc0-ff40-4a8e-b002-c36bac79cb72 20 19945639 19945639 C G SNP RIN2 ENST00000255006 human ensembl 69_37n +1 known missense c.654 p.F218L 1.000 pfscan_SH2 pfam_VPS9,pfam_Ras-assoc,smart_VPS9_subgr,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SH2,pfscan_VPS9 - no_errors RIN2 HGNC ENSG00000132669 257 0 0.00 105 127 54.74 - - - RIN2 0 genome.wustl.edu 37 20 19956393 19956394 + Frame_Shift_Ins INS - - C TCGA-AN-A0FT-01A-11W-A050-09 TCGA-AN-A0FT-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0598fc5f-9651-4ace-bf4e-56759d544e52 520abbc0-ff40-4a8e-b002-c36bac79cb72 20 19956393 19956394 - C INS RIN2 ENST00000255006 human ensembl 69_37n +1 known frame_shift_ins c.1871_1872 p.I627fs 1.000:0.882 NULL pfam_VPS9,pfam_Ras-assoc,smart_VPS9_subgr,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SH2,pfscan_VPS9 - no_errors RIN2 HGNC ENSG00000132669 24 0 0.00 17 3 15.00 - - - SHROOM2 0 genome.wustl.edu 37 X 9864432 9864433 + Frame_Shift_Ins INS - - C TCGA-AN-A0FT-01A-11W-A050-09 TCGA-AN-A0FT-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0598fc5f-9651-4ace-bf4e-56759d544e52 520abbc0-ff40-4a8e-b002-c36bac79cb72 X 9864432 9864433 - C INS SHROOM2 ENST00000380913 human ensembl 69_37n +1 known frame_shift_ins c.2484_2485 p.R829fs 0.001:0.020 NULL pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM2 HGNC ENSG00000146950 31 0 0.00 15 4 21.05 - - - SMTNL1 0 genome.wustl.edu 37 11 57308982 57308982 + Missense_Mutation SNP C C A TCGA-AN-A0FT-01A-11W-A050-09 TCGA-AN-A0FT-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0598fc5f-9651-4ace-bf4e-56759d544e52 520abbc0-ff40-4a8e-b002-c36bac79cb72 11 57308982 57308982 C A SNP SMTNL1 ENST00000457912 human ensembl 69_37n +1 known missense c.4 p.L2I 0.000 NULL pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors SMTNL1 HGNC ENSG00000214872 83 0 0.00 50 11 18.03 - - - SORCS1 0 genome.wustl.edu 37 10 108339234 108339234 + Splice_Site SNP T T G TCGA-AN-A0FT-01A-11W-A050-09 TCGA-AN-A0FT-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0598fc5f-9651-4ace-bf4e-56759d544e52 520abbc0-ff40-4a8e-b002-c36bac79cb72 10 108339234 108339234 T G SNP SORCS1 ENST00000344440 human ensembl 69_37n -1 known splice_site c.3266-2 e25-2 0.998 - - - no_errors SORCS1 HGNC ENSG00000108018 214 0 0.00 144 49 25.39 - - - SPARCL1 0 genome.wustl.edu 37 4 88414874 88414874 + Missense_Mutation SNP C C T TCGA-AN-A0FT-01A-11W-A050-09 TCGA-AN-A0FT-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0598fc5f-9651-4ace-bf4e-56759d544e52 520abbc0-ff40-4a8e-b002-c36bac79cb72 4 88414874 88414874 C T SNP SPARCL1 ENST00000282470 human ensembl 69_37n -1 known missense c.1078 p.D360N 0.613 pirsf_SPARC-like_p1 pfam_SPARC/Testican_Ca-bd-dom,pfam_Prot_inh_Kazal,pfam_Kazal-type_dom,pfam_Follistatin/Osteonectin_EGF,smart_Fol_N,smart_Prot_inh_Kazal,pirsf_SPARC-like_p1,pfscan_EF_HAND_2 - no_errors SPARCL1 HGNC ENSG00000152583 139 0 0.00 117 26 18.18 - - - SSTR2 0 genome.wustl.edu 37 17 71165918 71165918 + Missense_Mutation SNP A A G TCGA-AN-A0FT-01A-11W-A050-09 TCGA-AN-A0FT-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0598fc5f-9651-4ace-bf4e-56759d544e52 520abbc0-ff40-4a8e-b002-c36bac79cb72 17 71165918 71165918 A G SNP SSTR2 ENST00000357585 human ensembl 69_37n +1 known missense c.460 p.R154G 1.000 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_Opioid_rcpt pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_Somatstn_rcpt_2,prints_7TM_GPCR_Rhodpsn,prints_Somatstn_rcpt,prints_Neuropept_W_rcpt,prints_Opioid_rcpt,prints_NPY_rcpt,prints_Somatstn_rcpt_5 - no_errors SSTR2 HGNC ENSG00000180616 111 0 0.00 12 23 65.71 - - - ST20 0 genome.wustl.edu 37 15 80191306 80191306 + Silent SNP C C A TCGA-AN-A0FT-01A-11W-A050-09 TCGA-AN-A0FT-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0598fc5f-9651-4ace-bf4e-56759d544e52 520abbc0-ff40-4a8e-b002-c36bac79cb72 15 80191306 80191306 C A SNP ST20 ENST00000478497 human ensembl 69_37n -1 known silent c.207 p.T69 0.000 NULL NULL - no_errors ST20 HGNC ENSG00000180953 106 0 0.00 47 17 26.15 - - - SULT1A4 0 genome.wustl.edu 37 16 29472811 29472811 + Silent SNP A A G TCGA-AN-A0FT-01A-11W-A050-09 TCGA-AN-A0FT-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0598fc5f-9651-4ace-bf4e-56759d544e52 520abbc0-ff40-4a8e-b002-c36bac79cb72 16 29472811 29472811 A G SNP SULT1A4 ENST00000565290 human ensembl 69_37n +1 known silent c.105 p.Q35 0.951 NULL pfam_Sulfotransferase_dom - no_errors SULT1A4 HGNC ENSG00000213648 11 0 0.00 5 3 37.50 - - - SYTL2 0 genome.wustl.edu 37 11 85431982 85431982 + Missense_Mutation SNP G G C TCGA-AN-A0FT-01A-11W-A050-09 TCGA-AN-A0FT-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0598fc5f-9651-4ace-bf4e-56759d544e52 520abbc0-ff40-4a8e-b002-c36bac79cb72 11 85431982 85431982 G C SNP SYTL2 ENST00000359152 human ensembl 69_37n -1 known missense c.4018 p.P1340A 1.000 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors SYTL2 HGNC ENSG00000137501 100 0 0.00 33 6 15.38 - - - TIMELESS 0 genome.wustl.edu 37 12 56822802 56822802 + Missense_Mutation SNP C C T TCGA-AN-A0FT-01A-11W-A050-09 TCGA-AN-A0FT-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0598fc5f-9651-4ace-bf4e-56759d544e52 520abbc0-ff40-4a8e-b002-c36bac79cb72 12 56822802 56822802 C T SNP TIMELESS ENST00000553532 human ensembl 69_37n -1 known missense c.1169 p.R390Q 1.000 NULL pfam_TIMELESS_C,pfam_Timeless - no_errors TIMELESS HGNC ENSG00000111602 152 0 0.00 118 33 21.85 - - - TLE6 0 genome.wustl.edu 37 19 2994071 2994071 + Missense_Mutation SNP C C T TCGA-AN-A0FT-01A-11W-A050-09 TCGA-AN-A0FT-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0598fc5f-9651-4ace-bf4e-56759d544e52 520abbc0-ff40-4a8e-b002-c36bac79cb72 19 2994071 2994071 C T SNP TLE6 ENST00000246112 human ensembl 69_37n +1 known missense c.1592 p.P531L 0.109 superfamily_WD40_repeat_dom,prints_Groucho_enhance pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance - no_errors TLE6 HGNC ENSG00000104953 66 0 0.00 16 33 66.00 - - - TP53 0 genome.wustl.edu 37 17 7578271 7578271 + Missense_Mutation SNP T T C TCGA-AN-A0FT-01A-11W-A050-09 TCGA-AN-A0FT-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0598fc5f-9651-4ace-bf4e-56759d544e52 520abbc0-ff40-4a8e-b002-c36bac79cb72 17 7578271 7578271 T C SNP TP53 ENST00000269305 human ensembl 69_37n -1 known missense c.578 p.H193R 0.998 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 385 1 0.26 66 260 79.75 - - - TRAF6 0 genome.wustl.edu 37 11 36511852 36511852 + Missense_Mutation SNP C C T TCGA-AN-A0FT-01A-11W-A050-09 TCGA-AN-A0FT-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0598fc5f-9651-4ace-bf4e-56759d544e52 520abbc0-ff40-4a8e-b002-c36bac79cb72 11 36511852 36511852 C T SNP TRAF6 ENST00000348124 human ensembl 69_37n -1 known missense c.1105 p.E369K 1.000 superfamily_TRAF-like,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH pfam_MATH,pfam_Znf_C3HC4_RING-type,superfamily_TRAF-like,smart_Znf_RING,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH,pfscan_Znf_RING,pfscan_Znf_TRAF - no_errors TRAF6 HGNC ENSG00000175104 307 0 0.00 172 54 23.89 - - - TRBV27 0 genome.wustl.edu 37 7 142423558 142423558 + Missense_Mutation SNP G G A TCGA-AN-A0FT-01A-11W-A050-09 TCGA-AN-A0FT-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0598fc5f-9651-4ace-bf4e-56759d544e52 520abbc0-ff40-4a8e-b002-c36bac79cb72 7 142423558 142423558 G A SNP TRBV27 ENST00000390399 human ensembl 69_37n +1 known missense c.214 p.E72K 0.000 pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like - no_stop_codon:bad_bp_length_for_coding_region TRBV27 HGNC ENSG00000211752 181 0 0.00 129 27 17.31 - - - TRPC7 0 genome.wustl.edu 37 5 135692897 135692897 + Missense_Mutation SNP C C T TCGA-AN-A0FT-01A-11W-A050-09 TCGA-AN-A0FT-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0598fc5f-9651-4ace-bf4e-56759d544e52 520abbc0-ff40-4a8e-b002-c36bac79cb72 5 135692897 135692897 C T SNP TRPC7 ENST00000513104 human ensembl 69_37n -1 known missense c.179 p.R60Q 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,prints_TRPC7_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC7 HGNC ENSG00000069018 24 0 0.00 21 5 19.23 - - - TSLP 0 genome.wustl.edu 37 5 110411704 110411704 + Missense_Mutation SNP C C A TCGA-AN-A0FT-01A-11W-A050-09 TCGA-AN-A0FT-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0598fc5f-9651-4ace-bf4e-56759d544e52 520abbc0-ff40-4a8e-b002-c36bac79cb72 5 110411704 110411704 C A SNP TSLP ENST00000344895 human ensembl 69_37n +1 known missense c.412 p.L138M 0.058 NULL NULL - no_errors TSLP HGNC ENSG00000145777 189 0 0.00 66 8 10.81 - - - TTC14 0 genome.wustl.edu 37 3 180322642 180322642 + Missense_Mutation SNP G G A TCGA-AN-A0FT-01A-11W-A050-09 TCGA-AN-A0FT-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0598fc5f-9651-4ace-bf4e-56759d544e52 520abbc0-ff40-4a8e-b002-c36bac79cb72 3 180322642 180322642 G A SNP TTC14 ENST00000296015 human ensembl 69_37n +1 known missense c.704 p.R235K 1.000 NULL pfam_TPR-1,superfamily_NA-bd_OB-fold-like,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom - no_errors TTC14 HGNC ENSG00000163728 59 0 0.00 37 5 11.90 - - - UBR5 0 genome.wustl.edu 37 8 103298762 103298762 + Missense_Mutation SNP T T A TCGA-AN-A0FT-01A-11W-A050-09 TCGA-AN-A0FT-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0598fc5f-9651-4ace-bf4e-56759d544e52 520abbc0-ff40-4a8e-b002-c36bac79cb72 8 103298762 103298762 T A SNP UBR5 ENST00000520539 human ensembl 69_37n -1 known missense c.5041 p.S1681C 1.000 NULL pfam_HECT,pfam_E3_UbLigase_EDD_UBA,pfam_PABP_HYD,pfam_Znf_N-recognin,superfamily_HECT,superfamily_PABP_HYD,superfamily_Reg_csome_cond/b-lactamase_inh,smart_Znf_N-recognin_met,smart_PABP_HYD,smart_HECT,pfscan_HECT,pfscan_Znf_N-recognin - no_errors UBR5 HGNC ENSG00000104517 195 0 0.00 102 292 74.11 - - - USH2A 0 genome.wustl.edu 37 1 216251659 216251659 + Missense_Mutation SNP G G A TCGA-AN-A0FT-01A-11W-A050-09 TCGA-AN-A0FT-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0598fc5f-9651-4ace-bf4e-56759d544e52 520abbc0-ff40-4a8e-b002-c36bac79cb72 1 216251659 216251659 G A SNP USH2A ENST00000366943 human ensembl 69_37n -1 known missense c.5344 p.L1782F 0.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Laminin_G,pfscan_Laminin_G pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 54 0 0.00 59 8 11.94 - - - VGLL1 0 genome.wustl.edu 37 X 135630756 135630756 + Missense_Mutation SNP A A T TCGA-AN-A0FT-01A-11W-A050-09 TCGA-AN-A0FT-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0598fc5f-9651-4ace-bf4e-56759d544e52 520abbc0-ff40-4a8e-b002-c36bac79cb72 X 135630756 135630756 A T SNP VGLL1 ENST00000370634 human ensembl 69_37n +1 known missense c.223 p.M75L 0.043 NULL pfam_Vg_Tdu,smart_TDU_repeat - no_errors VGLL1 HGNC ENSG00000102243 128 0 0.00 65 22 25.29 - - - XKR5 0 genome.wustl.edu 37 8 6668898 6668898 + RNA SNP C C T TCGA-AN-A0FT-01A-11W-A050-09 TCGA-AN-A0FT-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0598fc5f-9651-4ace-bf4e-56759d544e52 520abbc0-ff40-4a8e-b002-c36bac79cb72 8 6668898 6668898 C T SNP XKR5 ENST00000405979 human ensembl 69_37n -1 known rna NULL NULL 0.001 - - - no_errors XKR5 HGNC ENSG00000186530 124 0 0.00 50 13 20.63 - - - ZFHX4 0 genome.wustl.edu 37 8 77616630 77616630 + Missense_Mutation SNP G G A TCGA-AN-A0FT-01A-11W-A050-09 TCGA-AN-A0FT-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0598fc5f-9651-4ace-bf4e-56759d544e52 520abbc0-ff40-4a8e-b002-c36bac79cb72 8 77616630 77616630 G A SNP ZFHX4 ENST00000521891 human ensembl 69_37n +1 known missense c.307 p.A103T 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 201 0 0.00 200 46 18.62 - - - ZFP106 0 genome.wustl.edu 37 15 42734373 42734373 + Nonsense_Mutation SNP G G A TCGA-AN-A0FT-01A-11W-A050-09 TCGA-AN-A0FT-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0598fc5f-9651-4ace-bf4e-56759d544e52 520abbc0-ff40-4a8e-b002-c36bac79cb72 15 42734373 42734373 G A SNP ZFP106 ENST00000263805 human ensembl 69_37n -1 known nonsense c.3592 p.Q1198* 0.997 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_Znf_C2H2-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors ZFP106 HGNC ENSG00000103994 114 0 0.00 78 14 15.22 - - - ZNF324 0 genome.wustl.edu 37 19 58980577 58980577 + Missense_Mutation SNP T T C TCGA-AN-A0FT-01A-11W-A050-09 TCGA-AN-A0FT-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0598fc5f-9651-4ace-bf4e-56759d544e52 520abbc0-ff40-4a8e-b002-c36bac79cb72 19 58980577 58980577 T C SNP ZNF324 ENST00000196482 human ensembl 69_37n +1 known missense c.25 p.Y9H 1.000 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF324 HGNC ENSG00000083812 86 0 0.00 30 7 18.92 - - - ZNF85 0 genome.wustl.edu 37 19 21131734 21131734 + Silent SNP C C G TCGA-AN-A0FT-01A-11W-A050-09 TCGA-AN-A0FT-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0598fc5f-9651-4ace-bf4e-56759d544e52 520abbc0-ff40-4a8e-b002-c36bac79cb72 19 21131734 21131734 C G SNP ZNF85 ENST00000328178 human ensembl 69_37n +1 known silent c.414 p.L138 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF85 HGNC ENSG00000105750 47 0 0.00 21 7 25.00 - - -