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 APTX 0 genome.wustl.edu 37 9 32987555 32987555 + Missense_Mutation SNP G G C TCGA-BH-A0E2-01A-11W-A071-09 TCGA-BH-A0E2-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2703ce22-3ffa-4094-b3f1-1f573b5204a9 ff7d656e-eef3-42eb-84e8-545536c8aec0 9 32987555 32987555 G C SNP APTX ENST00000379819 human ensembl 69_37n -1 known missense c.512 p.A171G 0.000 NULL pfam_Histidine_triad_HIT,superfamily_HIT-like,superfamily_SMAD_FHA_domain,pfscan_Histidine_triad_HIT - no_errors APTX HGNC ENSG00000137074 277 0 0.00 240 124 34.07 - - - ATN1 0 genome.wustl.edu 37 12 7047646 7047646 + Silent SNP G G A TCGA-BH-A0E2-01A-11W-A071-09 TCGA-BH-A0E2-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2703ce22-3ffa-4094-b3f1-1f573b5204a9 ff7d656e-eef3-42eb-84e8-545536c8aec0 12 7047646 7047646 G A SNP ATN1 ENST00000356654 human ensembl 69_37n +1 known silent c.2520 p.K840 0.994 pfam_Atrophin-like pfam_Atrophin-like,prints_Atrophin-1 - no_errors ATN1 HGNC ENSG00000111676 65 0 0.00 23 18 43.90 - - - BPI 0 genome.wustl.edu 37 20 36962894 36962894 + Missense_Mutation SNP C C T TCGA-BH-A0E2-01A-11W-A071-09 TCGA-BH-A0E2-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2703ce22-3ffa-4094-b3f1-1f573b5204a9 ff7d656e-eef3-42eb-84e8-545536c8aec0 20 36962894 36962894 C T SNP BPI ENST00000417318 human ensembl 69_37n +1 novel missense c.824 p.T275M 0.017 pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region BPI HGNC ENSG00000101425 312 2 0.63 291 160 35.48 - - - CGRRF1 0 genome.wustl.edu 37 14 54996904 54996904 + Missense_Mutation SNP G G T TCGA-BH-A0E2-01A-11W-A071-09 TCGA-BH-A0E2-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2703ce22-3ffa-4094-b3f1-1f573b5204a9 ff7d656e-eef3-42eb-84e8-545536c8aec0 14 54996904 54996904 G T SNP CGRRF1 ENST00000216420 human ensembl 69_37n +1 known missense c.382 p.D128Y 1.000 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors CGRRF1 HGNC ENSG00000100532 147 0 0.00 270 36 11.76 - - - DCAF17 0 genome.wustl.edu 37 2 172291597 172291597 + Missense_Mutation SNP G G A TCGA-BH-A0E2-01A-11W-A071-09 TCGA-BH-A0E2-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2703ce22-3ffa-4094-b3f1-1f573b5204a9 ff7d656e-eef3-42eb-84e8-545536c8aec0 2 172291597 172291597 G A SNP DCAF17 ENST00000375255 human ensembl 69_37n +1 known missense c.131 p.S44N 1.000 NULL NULL - no_errors DCAF17 HGNC ENSG00000115827 109 0 0.00 29 26 46.43 - - - DLG5 0 genome.wustl.edu 37 10 79570872 79570873 + Frame_Shift_Ins INS - - G TCGA-BH-A0E2-01A-11W-A071-09 TCGA-BH-A0E2-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2703ce22-3ffa-4094-b3f1-1f573b5204a9 ff7d656e-eef3-42eb-84e8-545536c8aec0 10 79570872 79570873 - G INS DLG5 ENST00000372391 human ensembl 69_37n -1 known frame_shift_ins c.4443_4442 p.A1482fs 0.852:0.901 superfamily_PDZ pfam_PDZ,pfam_DUF622,pfam_Guanylate_kin,superfamily_PDZ,superfamily_SH3_domain,superfamily_DEATH-like,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_CARD,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin - no_errors DLG5 HGNC ENSG00000151208 28 0 0.00 27 3 10.00 - - - EMILIN2 0 genome.wustl.edu 37 18 2909695 2909695 + Missense_Mutation SNP C C T TCGA-BH-A0E2-01A-11W-A071-09 TCGA-BH-A0E2-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2703ce22-3ffa-4094-b3f1-1f573b5204a9 ff7d656e-eef3-42eb-84e8-545536c8aec0 18 2909695 2909695 C T SNP EMILIN2 ENST00000254528 human ensembl 69_37n +1 known missense c.2702 p.P901L 0.000 smart_C1q,pfscan_C1q pfam_EMI_domain,pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,pfscan_EMI_domain - no_errors EMILIN2 HGNC ENSG00000132205 63 0 0.00 21 6 22.22 - - - FAM188B 0 genome.wustl.edu 37 7 30818062 30818062 + Silent SNP A A C TCGA-BH-A0E2-01A-11W-A071-09 TCGA-BH-A0E2-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2703ce22-3ffa-4094-b3f1-1f573b5204a9 ff7d656e-eef3-42eb-84e8-545536c8aec0 7 30818062 30818062 A C SNP FAM188B ENST00000265299 human ensembl 69_37n +1 known silent c.78 p.T26 0.166 NULL NULL - no_errors FAM188B HGNC ENSG00000106125 76 0 0.00 62 26 29.55 - - - FANCM 0 genome.wustl.edu 37 14 45644374 45644375 + Frame_Shift_Ins INS - - T TCGA-BH-A0E2-01A-11W-A071-09 TCGA-BH-A0E2-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2703ce22-3ffa-4094-b3f1-1f573b5204a9 ff7d656e-eef3-42eb-84e8-545536c8aec0 14 45644374 45644375 - T INS FANCM ENST00000267430 human ensembl 69_37n +1 known frame_shift_ins c.2417_2418 p.D807fs 0.000:0.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_Restrct_endonuc-II-like,superfamily_RuvA_2-like,smart_Helicase_ATP-bd,smart_Helicase_C,smart_ERCC4_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors FANCM HGNC ENSG00000187790 143 0 0.00 100 65 39.39 - - - GATA3 0 genome.wustl.edu 37 10 8111513 8111514 + Frame_Shift_Ins INS - - G TCGA-BH-A0E2-01A-11W-A071-09 TCGA-BH-A0E2-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2703ce22-3ffa-4094-b3f1-1f573b5204a9 ff7d656e-eef3-42eb-84e8-545536c8aec0 10 8111513 8111514 - G INS GATA3 ENST00000379328 human ensembl 69_37n +1 known frame_shift_ins c.1002_1003 p.D335fs 0.859:1.000 pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA - no_errors GATA3 HGNC ENSG00000107485 49 0 0.00 57 24 29.63 - - - GDI1 0 genome.wustl.edu 37 X 153668416 153668416 + Missense_Mutation SNP C C T TCGA-BH-A0E2-01A-11W-A071-09 TCGA-BH-A0E2-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2703ce22-3ffa-4094-b3f1-1f573b5204a9 ff7d656e-eef3-42eb-84e8-545536c8aec0 X 153668416 153668416 C T SNP GDI1 ENST00000447750 human ensembl 69_37n +1 known missense c.517 p.R173W 1.000 pfam_GDP_dissociation_inhibitor pfam_GDP_dissociation_inhibitor,prints_RabGDI,prints_GDP_dissociation_inhibitor - no_errors GDI1 HGNC ENSG00000203879 162 0 0.00 41 11 21.15 - - - GLT8D1 0 genome.wustl.edu 37 3 52728920 52728920 + Missense_Mutation SNP C C A TCGA-BH-A0E2-01A-11W-A071-09 TCGA-BH-A0E2-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2703ce22-3ffa-4094-b3f1-1f573b5204a9 ff7d656e-eef3-42eb-84e8-545536c8aec0 3 52728920 52728920 C A SNP GLT8D1 ENST00000266014 human ensembl 69_37n -1 known missense c.1057 p.D353Y 1.000 NULL pfam_Glyco_trans_8 - no_errors GLT8D1 HGNC ENSG00000016864 122 0 0.00 82 40 32.79 - - - GNAZ 0 genome.wustl.edu 37 22 23438487 23438488 + Frame_Shift_Ins INS - - G TCGA-BH-A0E2-01A-11W-A071-09 TCGA-BH-A0E2-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2703ce22-3ffa-4094-b3f1-1f573b5204a9 ff7d656e-eef3-42eb-84e8-545536c8aec0 22 23438487 23438488 - G INS GNAZ ENST00000248996 human ensembl 69_37n +1 known frame_shift_ins c.605_606 p.Q205fs 1.000:1.000 pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I - no_errors GNAZ HGNC ENSG00000128266 60 0 0.00 32 4 11.11 - - - KCNC2 0 genome.wustl.edu 37 12 75444552 75444552 + Silent SNP G G A TCGA-BH-A0E2-01A-11W-A071-09 TCGA-BH-A0E2-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2703ce22-3ffa-4094-b3f1-1f573b5204a9 ff7d656e-eef3-42eb-84e8-545536c8aec0 12 75444552 75444552 G A SNP KCNC2 ENST00000549446 human ensembl 69_37n -1 known silent c.1233 p.N411 0.996 pfam_Ion_trans_dom,pfam_Ion_trans_2 pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv - no_errors KCNC2 HGNC ENSG00000166006 165 0 0.00 129 205 61.38 - - - KPNA5 0 genome.wustl.edu 37 6 117050794 117050794 + Missense_Mutation SNP T T C TCGA-BH-A0E2-01A-11W-A071-09 TCGA-BH-A0E2-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2703ce22-3ffa-4094-b3f1-1f573b5204a9 ff7d656e-eef3-42eb-84e8-545536c8aec0 6 117050794 117050794 T C SNP KPNA5 ENST00000356348 human ensembl 69_37n +1 known missense c.1322 p.V441A 0.999 pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,pfam_Importin-a_IBB,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB - no_errors KPNA5 HGNC ENSG00000196911 200 0 0.00 166 113 40.50 - - - LETM1 0 genome.wustl.edu 37 4 1836578 1836578 + Missense_Mutation SNP G G T TCGA-BH-A0E2-01A-11W-A071-09 TCGA-BH-A0E2-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2703ce22-3ffa-4094-b3f1-1f573b5204a9 ff7d656e-eef3-42eb-84e8-545536c8aec0 4 1836578 1836578 G T SNP LETM1 ENST00000302787 human ensembl 69_37n -1 known missense c.870 p.F290L 0.999 pfam_LETM1 pfam_LETM1,pfscan_EF_HAND_2 - no_errors LETM1 HGNC ENSG00000168924 53 0 0.00 26 9 25.71 - - - LONP1 0 genome.wustl.edu 37 19 5708352 5708352 + Splice_Site SNP C C T TCGA-BH-A0E2-01A-11W-A071-09 TCGA-BH-A0E2-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2703ce22-3ffa-4094-b3f1-1f573b5204a9 ff7d656e-eef3-42eb-84e8-545536c8aec0 19 5708352 5708352 C T SNP LONP1 ENST00000360614 human ensembl 69_37n -1 known splice_site c.932+1 e5+1 1.000 - - - no_errors LONP1 HGNC ENSG00000196365 14 0 0.00 3 8 72.73 - - - MAML3 0 genome.wustl.edu 37 4 140811265 140811265 + Missense_Mutation SNP G G A TCGA-BH-A0E2-01A-11W-A071-09 TCGA-BH-A0E2-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2703ce22-3ffa-4094-b3f1-1f573b5204a9 ff7d656e-eef3-42eb-84e8-545536c8aec0 4 140811265 140811265 G A SNP MAML3 ENST00000509479 human ensembl 69_37n -1 known missense c.1325 p.P442L 0.999 NULL pfam_Neuroggenic_mastermind-like_N - no_errors MAML3 HGNC ENSG00000196782 196 0 0.00 89 79 46.75 - - - MED24 0 genome.wustl.edu 37 17 38182541 38182541 + Missense_Mutation SNP A A T TCGA-BH-A0E2-01A-11W-A071-09 TCGA-BH-A0E2-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2703ce22-3ffa-4094-b3f1-1f573b5204a9 ff7d656e-eef3-42eb-84e8-545536c8aec0 17 38182541 38182541 A T SNP MED24 ENST00000394128 human ensembl 69_37n -1 known missense c.1853 p.V618E 1.000 pfam_Mediator_Med24_N pfam_Mediator_Med24_N - no_errors MED24 HGNC ENSG00000008838 177 0 0.00 35 45 55.56 - - - MLLT10 0 genome.wustl.edu 37 10 21884363 21884363 + Nonsense_Mutation SNP T T A TCGA-BH-A0E2-01A-11W-A071-09 TCGA-BH-A0E2-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2703ce22-3ffa-4094-b3f1-1f573b5204a9 ff7d656e-eef3-42eb-84e8-545536c8aec0 10 21884363 21884363 T A SNP MLLT10 ENST00000307729 human ensembl 69_37n +1 known nonsense c.399 p.Y133* 0.985 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors MLLT10 HGNC ENSG00000078403 162 0 0.00 105 57 35.19 - - - MYOM1 0 genome.wustl.edu 37 18 3090726 3090726 + Silent SNP C C T TCGA-BH-A0E2-01A-11W-A071-09 TCGA-BH-A0E2-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2703ce22-3ffa-4094-b3f1-1f573b5204a9 ff7d656e-eef3-42eb-84e8-545536c8aec0 18 3090726 3090726 C T SNP MYOM1 ENST00000356443 human ensembl 69_37n -1 known silent c.3939 p.E1313 1.000 smart_Ig_sub pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors MYOM1 HGNC ENSG00000101605 147 0 0.00 42 47 52.81 - - - NEB 0 genome.wustl.edu 37 2 152499685 152499686 + Frame_Shift_Ins INS - - T TCGA-BH-A0E2-01A-11W-A071-09 TCGA-BH-A0E2-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2703ce22-3ffa-4094-b3f1-1f573b5204a9 ff7d656e-eef3-42eb-84e8-545536c8aec0 2 152499685 152499686 - T INS NEB ENST00000397345 human ensembl 69_37n -1 known frame_shift_ins c.8139_8138 p.N2713fs 0.998:1.000 pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,prints_Nebulin,pfscan_Nebulin_35r-motif,pfscan_SH3_domain - no_errors NEB HGNC ENSG00000183091 233 0 0.00 136 26 16.05 - - - OTP 0 genome.wustl.edu 37 5 76932789 76932789 + Missense_Mutation SNP G G T TCGA-BH-A0E2-01A-11W-A071-09 TCGA-BH-A0E2-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2703ce22-3ffa-4094-b3f1-1f573b5204a9 ff7d656e-eef3-42eb-84e8-545536c8aec0 5 76932789 76932789 G T SNP OTP ENST00000306422 human ensembl 69_37n -1 known missense c.304 p.Q102K 1.000 superfamily_Homeodomain-like,pfscan_Homeodomain pfam_Homeodomain,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeodomain,prints_HTH_motif,pfscan_OAR_dom,pfscan_Homeodomain - no_errors OTP HGNC ENSG00000171540 82 0 0.00 34 13 27.66 - - - PCK2 0 genome.wustl.edu 37 14 24568928 24568928 + Missense_Mutation SNP A A C TCGA-BH-A0E2-01A-11W-A071-09 TCGA-BH-A0E2-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2703ce22-3ffa-4094-b3f1-1f573b5204a9 ff7d656e-eef3-42eb-84e8-545536c8aec0 14 24568928 24568928 A C SNP PCK2 ENST00000216780 human ensembl 69_37n +1 known missense c.1014 p.E338D 0.901 pfam_PEP_carboxykinase_GTP,pirsf_PEP_carboxykinase_GTP pfam_PEP_carboxykinase_GTP,superfamily_PEP_carboxykinase_N,pirsf_PEP_carboxykinase_GTP - no_errors PCK2 HGNC ENSG00000100889 143 0 0.00 62 43 40.57 - - - PLXNA1 0 genome.wustl.edu 37 3 126735390 126735391 + Frame_Shift_Ins INS - - C TCGA-BH-A0E2-01A-11W-A071-09 TCGA-BH-A0E2-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2703ce22-3ffa-4094-b3f1-1f573b5204a9 ff7d656e-eef3-42eb-84e8-545536c8aec0 3 126735390 126735391 - C INS PLXNA1 ENST00000393409 human ensembl 69_37n +1 known frame_shift_ins c.3045_3046 p.G1017fs 0.554:0.981 pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNA1 HGNC ENSG00000114554 16 0 0.00 25 4 13.79 - - - RB1CC1 0 genome.wustl.edu 37 8 53558327 53558327 + Missense_Mutation SNP C C T TCGA-BH-A0E2-01A-11W-A071-09 TCGA-BH-A0E2-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2703ce22-3ffa-4094-b3f1-1f573b5204a9 ff7d656e-eef3-42eb-84e8-545536c8aec0 8 53558327 53558327 C T SNP RB1CC1 ENST00000025008 human ensembl 69_37n -1 known missense c.3922 p.E1308K 1.000 NULL pfam_Autophagy-rel_p11 - no_errors RB1CC1 HGNC ENSG00000023287 142 0 0.00 102 37 26.62 - - - REV3L 0 genome.wustl.edu 37 6 111695272 111695272 + Missense_Mutation SNP A A G TCGA-BH-A0E2-01A-11W-A071-09 TCGA-BH-A0E2-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2703ce22-3ffa-4094-b3f1-1f573b5204a9 ff7d656e-eef3-42eb-84e8-545536c8aec0 6 111695272 111695272 A G SNP REV3L ENST00000358835 human ensembl 69_37n -1 known missense c.4286 p.I1429T 0.958 superfamily_RNaseH-like_dom pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B - no_errors REV3L HGNC ENSG00000009413 384 0 0.00 275 83 23.18 - - - SCN8A 0 genome.wustl.edu 37 12 52145348 52145348 + Missense_Mutation SNP T T G TCGA-BH-A0E2-01A-11W-A071-09 TCGA-BH-A0E2-10A-01W-A071-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2703ce22-3ffa-4094-b3f1-1f573b5204a9 ff7d656e-eef3-42eb-84e8-545536c8aec0 12 52145348 52145348 T G SNP SCN8A ENST00000354534 human ensembl 69_37n +1 known missense c.2341 p.F781V 0.998 NULL pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,prints_Na_channel_a8su,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN8A HGNC ENSG00000196876 248 0 0.00 101 129 56.09 - - - SELP 0 genome.wustl.edu 37 1 169588391 169588391 + Missense_Mutation SNP G G A TCGA-BH-A0E2-01A-11W-A071-09 TCGA-BH-A0E2-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2703ce22-3ffa-4094-b3f1-1f573b5204a9 ff7d656e-eef3-42eb-84e8-545536c8aec0 1 169588391 169588391 G A SNP SELP ENST00000263686 human ensembl 69_37n -1 known missense c.70 p.L24F 0.235 NULL 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 116 0 0.00 112 54 32.53 - - - SHANK1 0 genome.wustl.edu 37 19 51165806 51165806 + Frame_Shift_Del DEL C C - TCGA-BH-A0E2-01A-11W-A071-09 TCGA-BH-A0E2-10A-01W-A071-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2703ce22-3ffa-4094-b3f1-1f573b5204a9 ff7d656e-eef3-42eb-84e8-545536c8aec0 19 51165806 51165806 C - DEL SHANK1 ENST00000391814 human ensembl 69_37n -1 known frame_shift_del c.5926 p.A1976fs 0.455 NULL pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SH3_2,pfam_SAM_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SH3_domain,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain - no_errors SHANK1 HGNC ENSG00000161681 19 0 0.00 9 2 18.18 - - - SLIT1 0 genome.wustl.edu 37 10 98763830 98763830 + Frame_Shift_Del DEL A A - TCGA-BH-A0E2-01A-11W-A071-09 TCGA-BH-A0E2-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2703ce22-3ffa-4094-b3f1-1f573b5204a9 ff7d656e-eef3-42eb-84e8-545536c8aec0 10 98763830 98763830 A - DEL SLIT1 ENST00000266058 human ensembl 69_37n -1 known frame_shift_del c.3860 p.V1287fs 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_EGF-like_dom,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd,smart_EGF-like,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT1 HGNC ENSG00000187122 108 0 0.00 76 43 36.13 - - - SMYD4 0 genome.wustl.edu 37 17 1690265 1690266 + In_Frame_Ins INS - - TTT TCGA-BH-A0E2-01A-11W-A071-09 TCGA-BH-A0E2-10A-01W-A071-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2703ce22-3ffa-4094-b3f1-1f573b5204a9 ff7d656e-eef3-42eb-84e8-545536c8aec0 17 1690265 1690266 - TTT INS SMYD4 ENST00000305513 human ensembl 69_37n -1 known in_frame_ins c.1723_1722 p.574in_frame_insK 1.000:0.977 pfam_SET_dom,pfscan_SET_dom pfam_SET_dom,pfam_Znf_MYND,pfscan_SET_dom,pfscan_Znf_MYND - no_errors SMYD4 HGNC ENSG00000186532 52 0 0.00 31 37 54.41 - - - SP140 0 genome.wustl.edu 37 2 231176276 231176276 + Missense_Mutation SNP G G A TCGA-BH-A0E2-01A-11W-A071-09 TCGA-BH-A0E2-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2703ce22-3ffa-4094-b3f1-1f573b5204a9 ff7d656e-eef3-42eb-84e8-545536c8aec0 2 231176276 231176276 G A SNP SP140 ENST00000392045 human ensembl 69_37n +1 known missense c.2471 p.R824H 0.655 pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain pfam_Sp100,pfam_SAND_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom,pfscan_Bromodomain - no_errors SP140 HGNC ENSG00000079263 213 0 0.00 47 36 43.37 - - - TET1 0 genome.wustl.edu 37 10 70406122 70406122 + Silent SNP A A G TCGA-BH-A0E2-01A-11W-A071-09 TCGA-BH-A0E2-10A-01W-A071-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2703ce22-3ffa-4094-b3f1-1f573b5204a9 ff7d656e-eef3-42eb-84e8-545536c8aec0 10 70406122 70406122 A G SNP TET1 ENST00000373644 human ensembl 69_37n +1 known silent c.3636 p.K1212 0.912 NULL pfam_Znf_CXXC,pfscan_Znf_CXXC - no_errors TET1 HGNC ENSG00000138336 223 0 0.00 136 56 29.17 - - - TPH2 0 genome.wustl.edu 37 12 72388322 72388322 + Missense_Mutation SNP G G A TCGA-BH-A0E2-01A-11W-A071-09 TCGA-BH-A0E2-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2703ce22-3ffa-4094-b3f1-1f573b5204a9 ff7d656e-eef3-42eb-84e8-545536c8aec0 12 72388322 72388322 G A SNP TPH2 ENST00000333850 human ensembl 69_37n +1 known missense c.1045 p.E349K 1.000 pfam_Aromatic-AA_hydroxylase_C,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Trp_5_mOase pfam_Aromatic-AA_hydroxylase_C,pfam_ACT_dom,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Trp_5_mOase - no_errors TPH2 HGNC ENSG00000139287 138 0 0.00 579 172 22.90 - - - TSNARE1 0 genome.wustl.edu 37 8 143425597 143425597 + Missense_Mutation SNP G G A TCGA-BH-A0E2-01A-11W-A071-09 TCGA-BH-A0E2-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2703ce22-3ffa-4094-b3f1-1f573b5204a9 ff7d656e-eef3-42eb-84e8-545536c8aec0 8 143425597 143425597 G A SNP TSNARE1 ENST00000307180 human ensembl 69_37n -1 known missense c.475 p.R159C 0.017 NULL pfam_T_SNARE_dom,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors TSNARE1 HGNC ENSG00000171045 46 0 0.00 25 4 13.79 - - - VCX 0 genome.wustl.edu 37 X 7811259 7811259 + Silent SNP G G C TCGA-BH-A0E2-01A-11W-A071-09 TCGA-BH-A0E2-10A-01W-A071-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2703ce22-3ffa-4094-b3f1-1f573b5204a9 ff7d656e-eef3-42eb-84e8-545536c8aec0 X 7811259 7811259 G C SNP VCX ENST00000381059 human ensembl 69_37n +1 known silent c.15 p.P5 0.001 NULL NULL - no_errors VCX HGNC ENSG00000182583 35 0 0.00 23 14 37.84 - - -