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 AKAP12 0 genome.wustl.edu 37 6 151673850 151673850 + Frame_Shift_Del DEL G G - TCGA-A8-A0A1-01A-11W-A019-09 TCGA-A8-A0A1-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73aa20fe-b74b-41ae-88d3-2d5a66908c25 c356aae0-c3f1-4c70-962d-e0d592174bbc 6 151673850 151673850 G - DEL AKAP12 ENST00000253332 human ensembl 69_37n +1 known frame_shift_del c.4324 p.E1442fs 0.099 NULL pfam_Pkinase-A_anch_WSK-motif,pfam_RII_binding_1 - no_errors AKAP12 HGNC ENSG00000131016 437 0 0.00 384 119 23.24 - - - ANO5 0 genome.wustl.edu 37 11 22272512 22272512 + Missense_Mutation SNP G G A TCGA-A8-A0A1-01A-11W-A019-09 TCGA-A8-A0A1-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73aa20fe-b74b-41ae-88d3-2d5a66908c25 c356aae0-c3f1-4c70-962d-e0d592174bbc 11 22272512 22272512 G A SNP ANO5 ENST00000324559 human ensembl 69_37n +1 known missense c.1135 p.D379N 1.000 pfam_Anoctamin pfam_Anoctamin - no_errors ANO5 HGNC ENSG00000171714 166 0 0.00 100 16 13.79 - - - ATP6V0A2 0 genome.wustl.edu 37 12 124218490 124218490 + Nonsense_Mutation SNP G G A TCGA-A8-A0A1-01A-11W-A019-09 TCGA-A8-A0A1-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73aa20fe-b74b-41ae-88d3-2d5a66908c25 c356aae0-c3f1-4c70-962d-e0d592174bbc 12 124218490 124218490 G A SNP ATP6V0A2 ENST00000330342 human ensembl 69_37n +1 known nonsense c.666 p.W222* 1.000 pfam_ATPase_V0/A0_a pfam_ATPase_V0/A0_a - no_errors ATP6V0A2 HGNC ENSG00000185344 180 0 0.00 217 144 39.89 - - - BTNL2 0 genome.wustl.edu 37 6 32372739 32372739 + Missense_Mutation SNP G G T TCGA-A8-A0A1-01A-11W-A019-09 TCGA-A8-A0A1-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73aa20fe-b74b-41ae-88d3-2d5a66908c25 c356aae0-c3f1-4c70-962d-e0d592174bbc 6 32372739 32372739 G T SNP BTNL2 ENST00000468270 human ensembl 69_37n -1 known missense c.404 p.T135K 0.987 smart_Ig_sub,pfscan_Ig-like pfam_Ig_V-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_C1-set,pfscan_Ig-like - no_errors BTNL2 HGNC ENSG00000204290 198 0 0.00 130 75 36.59 - - - CCL13 0 genome.wustl.edu 37 17 32685053 32685053 + Missense_Mutation SNP C C A TCGA-A8-A0A1-01A-11W-A019-09 TCGA-A8-A0A1-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73aa20fe-b74b-41ae-88d3-2d5a66908c25 c356aae0-c3f1-4c70-962d-e0d592174bbc 17 32685053 32685053 C A SNP CCL13 ENST00000225844 human ensembl 69_37n +1 known missense c.200 p.T67N 0.011 pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom - no_errors CCL13 HGNC ENSG00000181374 133 0 0.00 83 29 25.66 - - - COL24A1 0 genome.wustl.edu 37 1 86249998 86249998 + Nonsense_Mutation SNP G G A TCGA-A8-A0A1-01A-11W-A019-09 TCGA-A8-A0A1-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73aa20fe-b74b-41ae-88d3-2d5a66908c25 c356aae0-c3f1-4c70-962d-e0d592174bbc 1 86249998 86249998 G A SNP COL24A1 ENST00000370571 human ensembl 69_37n -1 known nonsense c.4111 p.R1371* 0.000 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL24A1 HGNC ENSG00000171502 224 0 0.00 200 80 28.57 - - - CYHR1 0 genome.wustl.edu 37 8 145689605 145689605 + Frame_Shift_Del DEL G G - TCGA-A8-A0A1-01A-11W-A019-09 TCGA-A8-A0A1-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73aa20fe-b74b-41ae-88d3-2d5a66908c25 c356aae0-c3f1-4c70-962d-e0d592174bbc 8 145689605 145689605 G - DEL CYHR1 ENST00000306145 human ensembl 69_37n -1 known frame_shift_del c.484 p.L162fs 0.091 NULL NULL - no_errors CYHR1 HGNC ENSG00000187954 14 0 0.00 10 9 47.37 - - - DIRAS2 0 genome.wustl.edu 37 9 93375994 93375994 + Missense_Mutation SNP G G A TCGA-A8-A0A1-01A-11W-A019-09 TCGA-A8-A0A1-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73aa20fe-b74b-41ae-88d3-2d5a66908c25 c356aae0-c3f1-4c70-962d-e0d592174bbc 9 93375994 93375994 G A SNP DIRAS2 ENST00000375765 human ensembl 69_37n -1 known missense c.116 p.T39M 1.000 pfam_Small_GTPase,pfam_MIRO-like,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors DIRAS2 HGNC ENSG00000165023 200 0 0.00 241 104 30.14 - - - FBXO44 0 genome.wustl.edu 37 1 11718395 11718396 + Frame_Shift_Ins INS - - T TCGA-A8-A0A1-01A-11W-A019-09 TCGA-A8-A0A1-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73aa20fe-b74b-41ae-88d3-2d5a66908c25 c356aae0-c3f1-4c70-962d-e0d592174bbc 1 11718395 11718396 - T INS FBXO44 ENST00000376768 human ensembl 69_37n +1 known frame_shift_ins c.337_338 p.Q113fs 0.998:0.983 pfam_F-box-assoc_dom,superfamily_Galactose-bd-like,pfscan_F-box-assoc_dom pfam_F-box-assoc_dom,pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,superfamily_Galactose-bd-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like,pfscan_F-box-assoc_dom - no_errors FBXO44 HGNC ENSG00000132879 62 0 0.00 69 33 32.35 - - - GABRA3 0 genome.wustl.edu 37 X 151453148 151453148 + Missense_Mutation SNP T T A TCGA-A8-A0A1-01A-11W-A019-09 TCGA-A8-A0A1-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73aa20fe-b74b-41ae-88d3-2d5a66908c25 c356aae0-c3f1-4c70-962d-e0d592174bbc X 151453148 151453148 T A SNP GABRA3 ENST00000370311 human ensembl 69_37n -1 known missense c.322 p.T108S 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABBAa3_rcpt,prints_GABAA_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRA3 HGNC ENSG00000011677 398 0 0.00 303 47 13.43 - - - GOLGB1 0 genome.wustl.edu 37 3 121415253 121415253 + Missense_Mutation SNP C C T TCGA-A8-A0A1-01A-11W-A019-09 TCGA-A8-A0A1-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73aa20fe-b74b-41ae-88d3-2d5a66908c25 c356aae0-c3f1-4c70-962d-e0d592174bbc 3 121415253 121415253 C T SNP GOLGB1 ENST00000340645 human ensembl 69_37n -1 known missense c.4102 p.E1368K 0.033 NULL superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo - no_errors GOLGB1 HGNC ENSG00000173230 336 0 0.00 259 94 26.55 - - - HCK 0 genome.wustl.edu 37 20 30689216 30689216 + Missense_Mutation SNP G G A TCGA-A8-A0A1-01A-11W-A019-09 TCGA-A8-A0A1-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73aa20fe-b74b-41ae-88d3-2d5a66908c25 c356aae0-c3f1-4c70-962d-e0d592174bbc 20 30689216 30689216 G A SNP HCK ENST00000375852 human ensembl 69_37n +1 known missense c.1475 p.R492H 0.998 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,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom - no_errors HCK HGNC ENSG00000101336 42 0 0.00 89 22 19.82 - - - KCNK9 0 genome.wustl.edu 37 8 140630698 140630698 + Missense_Mutation SNP G G A TCGA-A8-A0A1-01A-11W-A019-09 TCGA-A8-A0A1-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73aa20fe-b74b-41ae-88d3-2d5a66908c25 c356aae0-c3f1-4c70-962d-e0d592174bbc 8 140630698 140630698 G A SNP KCNK9 ENST00000303015 human ensembl 69_37n -1 known missense c.928 p.R310C 0.992 pirsf_2pore_dom_K_chnl_TASK/TWIK pfam_Ion_trans_2,pirsf_2pore_dom_K_chnl_TASK/TWIK,prints_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl_TASK3,prints_2pore_dom_K_chnl - no_errors KCNK9 HGNC ENSG00000169427 66 0 0.00 58 14 19.44 - - - KIAA1644 0 genome.wustl.edu 37 22 44681446 44681446 + Missense_Mutation SNP C C T TCGA-A8-A0A1-01A-11W-A019-09 TCGA-A8-A0A1-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73aa20fe-b74b-41ae-88d3-2d5a66908c25 c356aae0-c3f1-4c70-962d-e0d592174bbc 22 44681446 44681446 C T SNP KIAA1644 ENST00000381176 human ensembl 69_37n -1 putative missense c.461 p.R154Q 0.995 NULL NULL - no_errors KIAA1644 HGNC ENSG00000138944 78 0 0.00 27 12 30.77 - - - KLHDC7A 0 genome.wustl.edu 37 1 18809451 18809451 + Frame_Shift_Del DEL C C - TCGA-A8-A0A1-01A-11W-A019-09 TCGA-A8-A0A1-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73aa20fe-b74b-41ae-88d3-2d5a66908c25 c356aae0-c3f1-4c70-962d-e0d592174bbc 1 18809451 18809451 C - DEL KLHDC7A ENST00000400664 human ensembl 69_37n +1 known frame_shift_del c.1976 p.G660fs 0.989 NULL pfam_Kelch_1,smart_Kelch_1 - no_errors KLHDC7A HGNC ENSG00000179023 13 0 0.00 6 3 33.33 - - - LRRC37A6P 0 genome.wustl.edu 37 10 27537655 27537655 + RNA DEL G G - TCGA-A8-A0A1-01A-11W-A019-09 TCGA-A8-A0A1-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73aa20fe-b74b-41ae-88d3-2d5a66908c25 c356aae0-c3f1-4c70-962d-e0d592174bbc 10 27537655 27537655 G - DEL LRRC37A6P ENST00000284414 human ensembl 69_37n -1 known rna NULL NULL 0.057 - - - no_errors LRRC37A6P HGNC ENSG00000230445 122 0 0.00 66 33 33.33 - - - MAP1A 0 genome.wustl.edu 37 15 43817540 43817540 + Missense_Mutation SNP C C T TCGA-A8-A0A1-01A-11W-A019-09 TCGA-A8-A0A1-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73aa20fe-b74b-41ae-88d3-2d5a66908c25 c356aae0-c3f1-4c70-962d-e0d592174bbc 15 43817540 43817540 C T SNP MAP1A ENST00000399453 human ensembl 69_37n +1 known missense c.3869 p.A1290V 0.109 NULL NULL - no_errors MAP1A HGNC ENSG00000166963 100 0 0.00 142 60 29.70 - - - MTUS2 0 genome.wustl.edu 37 13 30066850 30066850 + Silent SNP A A G TCGA-A8-A0A1-01A-11W-A019-09 TCGA-A8-A0A1-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73aa20fe-b74b-41ae-88d3-2d5a66908c25 c356aae0-c3f1-4c70-962d-e0d592174bbc 13 30066850 30066850 A G SNP MTUS2 ENST00000431530 human ensembl 69_37n +1 known silent c.3603 p.S1201 0.857 NULL NULL - no_errors MTUS2 HGNC ENSG00000132938 96 0 0.00 118 41 25.79 - - - MUTYH 0 genome.wustl.edu 37 1 45800095 45800095 + Missense_Mutation SNP T T A TCGA-A8-A0A1-01A-11W-A019-09 TCGA-A8-A0A1-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73aa20fe-b74b-41ae-88d3-2d5a66908c25 c356aae0-c3f1-4c70-962d-e0d592174bbc 1 45800095 45800095 T A SNP MUTYH ENST00000450313 human ensembl 69_37n -1 known missense c.125 p.N42I 0.002 NULL pfam_HhH-GPD_domain,superfamily_DNA_glycosylase,superfamily_NUDIX_hydrolase_dom-like,smart_HhH-GPD_domain,smart_Endouclease3_FeS-loop_motif - no_errors MUTYH HGNC ENSG00000132781 192 0 0.00 171 62 26.50 - - - NDOR1 0 genome.wustl.edu 37 9 140109082 140109082 + Silent SNP G G T TCGA-A8-A0A1-01A-11W-A019-09 TCGA-A8-A0A1-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73aa20fe-b74b-41ae-88d3-2d5a66908c25 c356aae0-c3f1-4c70-962d-e0d592174bbc 9 140109082 140109082 G T SNP NDOR1 ENST00000371521 human ensembl 69_37n +1 known silent c.783 p.R261 0.975 pfam_FAD-binding_1,superfamily_Riboflavin_synthase-like_b-brl pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_Riboflavin_synthase-like_b-brl,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NDOR1 HGNC ENSG00000188566 18 0 0.00 11 10 47.62 - - - NOL6 0 genome.wustl.edu 37 9 33467828 33467828 + Missense_Mutation SNP C C T TCGA-A8-A0A1-01A-11W-A019-09 TCGA-A8-A0A1-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73aa20fe-b74b-41ae-88d3-2d5a66908c25 c356aae0-c3f1-4c70-962d-e0d592174bbc 9 33467828 33467828 C T SNP NOL6 ENST00000297990 human ensembl 69_37n -1 known missense c.1463 p.R488Q 1.000 pfam_Nrap pfam_Nrap - no_errors NOL6 HGNC ENSG00000165271 49 0 0.00 18 11 37.93 - - - PADI2 0 genome.wustl.edu 37 1 17431555 17431555 + Missense_Mutation SNP C C T TCGA-A8-A0A1-01A-11W-A019-09 TCGA-A8-A0A1-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73aa20fe-b74b-41ae-88d3-2d5a66908c25 c356aae0-c3f1-4c70-962d-e0d592174bbc 1 17431555 17431555 C T SNP PADI2 ENST00000375486 human ensembl 69_37n -1 known missense c.94 p.A32T 0.443 pfam_PAD_N,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub - no_errors PADI2 HGNC ENSG00000117115 18 0 0.00 44 18 29.03 - - - PCDHGC5 0 genome.wustl.edu 37 5 140869114 140869114 + Silent SNP C C T TCGA-A8-A0A1-01A-11W-A019-09 TCGA-A8-A0A1-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73aa20fe-b74b-41ae-88d3-2d5a66908c25 c356aae0-c3f1-4c70-962d-e0d592174bbc 5 140869114 140869114 C T SNP PCDHGC5 ENST00000252087 human ensembl 69_37n +1 known silent c.307 p.L103 0.999 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGC5 HGNC ENSG00000240764 155 0 0.00 54 18 25.00 - - - PIK3CA 0 genome.wustl.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A TCGA-A8-A0A1-01A-11W-A019-09 TCGA-A8-A0A1-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73aa20fe-b74b-41ae-88d3-2d5a66908c25 c356aae0-c3f1-4c70-962d-e0d592174bbc 3 178936091 178936091 G A SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.1633 p.E545K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 109 0 0.00 36 43 54.43 - - - PPP1R1A 0 genome.wustl.edu 37 12 54976558 54976558 + Missense_Mutation SNP G G A TCGA-A8-A0A1-01A-11W-A019-09 TCGA-A8-A0A1-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73aa20fe-b74b-41ae-88d3-2d5a66908c25 c356aae0-c3f1-4c70-962d-e0d592174bbc 12 54976558 54976558 G A SNP PPP1R1A ENST00000257905 human ensembl 69_37n -1 known missense c.205 p.R69W 1.000 pfam_PPI_1DARPP-32 pfam_PPI_1DARPP-32 - no_errors PPP1R1A HGNC ENSG00000135447 142 0 0.00 167 58 25.78 - - - RAB42 0 genome.wustl.edu 37 1 28920546 28920547 + Frame_Shift_Ins INS - - G TCGA-A8-A0A1-01A-11W-A019-09 TCGA-A8-A0A1-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73aa20fe-b74b-41ae-88d3-2d5a66908c25 c356aae0-c3f1-4c70-962d-e0d592174bbc 1 28920546 28920547 - G INS RAB42 ENST00000373826 human ensembl 69_37n +1 known frame_shift_ins c.235_236 p.V82fs 1.000:1.000 NULL pfam_Small_GTPase,smart_Small_GTPase_Rab_type,prints_Small_GTPase - no_errors RAB42 HGNC ENSG00000188060 23 0 0.00 13 3 18.75 - - - RNH1 0 genome.wustl.edu 37 11 498509 498509 + Frame_Shift_Del DEL G G - TCGA-A8-A0A1-01A-11W-A019-09 TCGA-A8-A0A1-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73aa20fe-b74b-41ae-88d3-2d5a66908c25 c356aae0-c3f1-4c70-962d-e0d592174bbc 11 498509 498509 G - DEL RNH1 ENST00000354420 human ensembl 69_37n -1 known frame_shift_del c.904 p.R302fs 0.000 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp - no_errors RNH1 HGNC ENSG00000023191 18 0 0.00 10 5 33.33 - - - RREB1 0 genome.wustl.edu 37 6 7226853 7226853 + Silent SNP G G A TCGA-A8-A0A1-01A-11W-A019-09 TCGA-A8-A0A1-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73aa20fe-b74b-41ae-88d3-2d5a66908c25 c356aae0-c3f1-4c70-962d-e0d592174bbc 6 7226853 7226853 G A SNP RREB1 ENST00000379938 human ensembl 69_37n +1 known silent c.861 p.T287 0.725 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors RREB1 HGNC ENSG00000124782 220 0 0.00 119 43 26.54 - - - SELRC1 0 genome.wustl.edu 37 1 53153745 53153745 + Missense_Mutation SNP C C T TCGA-A8-A0A1-01A-11W-A019-09 TCGA-A8-A0A1-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73aa20fe-b74b-41ae-88d3-2d5a66908c25 c356aae0-c3f1-4c70-962d-e0d592174bbc 1 53153745 53153745 C T SNP SELRC1 ENST00000371538 human ensembl 69_37n -1 known missense c.343 p.G115S 1.000 pfam_Sel1-like,smart_Sel1-like pfam_Sel1-like,smart_Sel1-like - no_errors SELRC1 HGNC ENSG00000162377 92 0 0.00 137 26 15.95 - - - SFXN2 0 genome.wustl.edu 37 10 104491539 104491539 + Missense_Mutation SNP G G A TCGA-A8-A0A1-01A-11W-A019-09 TCGA-A8-A0A1-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73aa20fe-b74b-41ae-88d3-2d5a66908c25 c356aae0-c3f1-4c70-962d-e0d592174bbc 10 104491539 104491539 G A SNP SFXN2 ENST00000369893 human ensembl 69_37n +1 known missense c.653 p.R218Q 0.998 pfam_Mtc,tigrfam_Mtc pfam_Mtc,tigrfam_Mtc - no_errors SFXN2 HGNC ENSG00000156398 261 0 0.00 489 65 11.69 - - - SOX10 0 genome.wustl.edu 37 22 38373898 38373899 + Frame_Shift_Ins INS - - A TCGA-A8-A0A1-01A-11W-A019-09 TCGA-A8-A0A1-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73aa20fe-b74b-41ae-88d3-2d5a66908c25 c356aae0-c3f1-4c70-962d-e0d592174bbc 22 38373898 38373899 - A INS SOX10 ENST00000360880 human ensembl 69_37n -1 known frame_shift_ins c.673_672 p.D224fs 1.000:0.787 NULL pfam_Sox_N,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors SOX10 HGNC ENSG00000100146 39 0 0.00 15 4 21.05 - - - SYCP1 0 genome.wustl.edu 37 1 115453031 115453031 + Missense_Mutation SNP C C T TCGA-A8-A0A1-01A-11W-A019-09 TCGA-A8-A0A1-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73aa20fe-b74b-41ae-88d3-2d5a66908c25 c356aae0-c3f1-4c70-962d-e0d592174bbc 1 115453031 115453031 C T SNP SYCP1 ENST00000369518 human ensembl 69_37n +1 known missense c.1334 p.T445I 1.000 pfam_SCP-1 pfam_SCP-1 - no_errors SYCP1 HGNC ENSG00000198765 189 0 0.00 116 42 26.58 - - - TEX19 0 genome.wustl.edu 37 17 80320351 80320351 + Frame_Shift_Del DEL G G - TCGA-A8-A0A1-01A-11W-A019-09 TCGA-A8-A0A1-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73aa20fe-b74b-41ae-88d3-2d5a66908c25 c356aae0-c3f1-4c70-962d-e0d592174bbc 17 80320351 80320351 G - DEL TEX19 ENST00000333437 human ensembl 69_37n +1 known frame_shift_del c.325 p.L110fs 0.000 NULL NULL - no_errors TEX19 HGNC ENSG00000182459 32 0 0.00 22 36 57.14 - - - WDR44 0 genome.wustl.edu 37 X 117521341 117521341 + Silent SNP C C T TCGA-A8-A0A1-01A-11W-A019-09 TCGA-A8-A0A1-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73aa20fe-b74b-41ae-88d3-2d5a66908c25 c356aae0-c3f1-4c70-962d-e0d592174bbc X 117521341 117521341 C T SNP WDR44 ENST00000254029 human ensembl 69_37n +1 known silent c.150 p.S50 0.646 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR44 HGNC ENSG00000131725 135 0 0.00 131 34 20.61 - - - WDR83 0 genome.wustl.edu 37 19 12780878 12780878 + Missense_Mutation SNP G G T TCGA-A8-A0A1-01A-11W-A019-09 TCGA-A8-A0A1-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73aa20fe-b74b-41ae-88d3-2d5a66908c25 c356aae0-c3f1-4c70-962d-e0d592174bbc 19 12780878 12780878 G T SNP WDR83 ENST00000242796 human ensembl 69_37n +1 known missense c.191 p.S64I 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR83 HGNC ENSG00000123154 46 0 0.00 36 675 94.01 - - - ZNF425 0 genome.wustl.edu 37 7 148801617 148801618 + Frame_Shift_Ins INS - - T TCGA-A8-A0A1-01A-11W-A019-09 TCGA-A8-A0A1-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73aa20fe-b74b-41ae-88d3-2d5a66908c25 c356aae0-c3f1-4c70-962d-e0d592174bbc 7 148801617 148801618 - T INS ZNF425 ENST00000378061 human ensembl 69_37n -1 known frame_shift_ins c.1346_1345 p.R449fs 0.000:0.000 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,pfscan_Krueppel-associated_box-rel - no_errors ZNF425 HGNC ENSG00000204947 71 0 0.00 59 110 65.09 - - - ZNF675 0 genome.wustl.edu 37 19 23836263 23836263 + Missense_Mutation SNP T T C TCGA-A8-A0A1-01A-11W-A019-09 TCGA-A8-A0A1-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73aa20fe-b74b-41ae-88d3-2d5a66908c25 c356aae0-c3f1-4c70-962d-e0d592174bbc 19 23836263 23836263 T C SNP ZNF675 ENST00000359788 human ensembl 69_37n -1 known missense c.1472 p.H491R 0.000 pfam_Znf_C2H2,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 ZNF675 HGNC ENSG00000197372 141 0 0.00 106 36 25.35 - - -