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 ABCB6 0 genome.wustl.edu 37 2 220082498 220082499 + Frame_Shift_Ins INS - - T TCGA-A8-A07E-01A-11W-A050-09 TCGA-A8-A07E-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa018a20-2c26-4d47-831f-75280b6464df 305efad7-ff5c-4c4a-8f59-2f5fd43710ec 2 220082498 220082499 - T INS ABCB6 ENST00000265316 human ensembl 69_37n -1 known frame_shift_ins c.581_580 p.V194fs 0.982:0.957 NULL pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCB6 HGNC ENSG00000115657 131 0 0.00 179 377 67.81 - - - AKAP3 0 genome.wustl.edu 37 12 4736063 4736063 + Frame_Shift_Del DEL T T - TCGA-A8-A07E-01A-11W-A050-09 TCGA-A8-A07E-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa018a20-2c26-4d47-831f-75280b6464df 305efad7-ff5c-4c4a-8f59-2f5fd43710ec 12 4736063 4736063 T - DEL AKAP3 ENST00000228850 human ensembl 69_37n -1 known frame_shift_del c.2005 p.M669fs 0.328 pfam_AKAP_110_C,smart_AKAP_110 pfam_AKAP_110_C,pfam_RII_binding_1,smart_AKAP_110 - no_errors AKAP3 HGNC ENSG00000111254 57 0 0.00 130 62 31.79 - - - ANKRD28 0 genome.wustl.edu 37 3 15751224 15751225 + Frame_Shift_Del DEL GG GG - TCGA-A8-A07E-01A-11W-A050-09 TCGA-A8-A07E-10A-01W-A055-09 GG GG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa018a20-2c26-4d47-831f-75280b6464df 305efad7-ff5c-4c4a-8f59-2f5fd43710ec 3 15751224 15751225 GG - DEL ANKRD28 ENST00000383777 human ensembl 69_37n -1 known frame_shift_del c.1366_1365 p.L456fs 1.000:1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD28 HGNC ENSG00000206560 120 0 0.00 151 32 17.11 - - - ARHGAP36 0 genome.wustl.edu 37 X 130219991 130219991 + Silent SNP G G T TCGA-A8-A07E-01A-11W-A050-09 TCGA-A8-A07E-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa018a20-2c26-4d47-831f-75280b6464df 305efad7-ff5c-4c4a-8f59-2f5fd43710ec X 130219991 130219991 G T SNP ARHGAP36 ENST00000276211 human ensembl 69_37n +1 known silent c.1209 p.L403 0.994 superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP36 HGNC ENSG00000147256 562 0 0.00 569 163 22.24 - - - ARMC9 0 genome.wustl.edu 37 2 232123800 232123800 + Missense_Mutation SNP G G A TCGA-A8-A07E-01A-11W-A050-09 TCGA-A8-A07E-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa018a20-2c26-4d47-831f-75280b6464df 305efad7-ff5c-4c4a-8f59-2f5fd43710ec 2 232123800 232123800 G A SNP ARMC9 ENST00000424740 human ensembl 69_37n +1 novel missense c.119 p.C40Y 1.000 NULL superfamily_ARM-type_fold - pseudogene:no_stop_codon ARMC9 HGNC ENSG00000135931 175 0 0.00 242 62 20.39 - - - ATM 0 genome.wustl.edu 37 11 108192065 108192065 + Missense_Mutation SNP G G A TCGA-A8-A07E-01A-11W-A050-09 TCGA-A8-A07E-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa018a20-2c26-4d47-831f-75280b6464df 305efad7-ff5c-4c4a-8f59-2f5fd43710ec 11 108192065 108192065 G A SNP ATM ENST00000278616 human ensembl 69_37n +1 known missense c.6490 p.E2164K 1.000 pfam_PIK-rel_kinase_FAT,superfamily_ARM-type_fold,pfscan_PIK_FAT pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors ATM HGNC ENSG00000149311 160 0 0.00 142 80 36.04 - - - CACNA1I 0 genome.wustl.edu 37 22 40069992 40069992 + Missense_Mutation SNP C C T TCGA-A8-A07E-01A-11W-A050-09 TCGA-A8-A07E-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa018a20-2c26-4d47-831f-75280b6464df 305efad7-ff5c-4c4a-8f59-2f5fd43710ec 22 40069992 40069992 C T SNP CACNA1I ENST00000336649 human ensembl 69_37n +1 known missense c.4826 p.T1609I 1.000 pfam_Ion_trans_dom,pfam_PKD1_2_channel pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1 - no_errors CACNA1I HGNC ENSG00000100346 35 0 0.00 32 24 42.86 - - - CACNB2 0 genome.wustl.edu 37 10 18787302 18787302 + Missense_Mutation SNP G G A TCGA-A8-A07E-01A-11W-A050-09 TCGA-A8-A07E-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa018a20-2c26-4d47-831f-75280b6464df 305efad7-ff5c-4c4a-8f59-2f5fd43710ec 10 18787302 18787302 G A SNP CACNB2 ENST00000324631 human ensembl 69_37n +1 known missense c.352 p.A118T 1.000 superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_Guanylate_kin,pfam_VDCC_L_bsu,superfamily_SH3_domain,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_SH3_domain,prints_VDCC_L_bsu,prints_VDCC_L_b2su - no_errors CACNB2 HGNC ENSG00000165995 102 0 0.00 251 38 13.15 - - - CCR5 0 genome.wustl.edu 37 3 46415073 46415075 + In_Frame_Del DEL AGA AGA - TCGA-A8-A07E-01A-11W-A050-09 TCGA-A8-A07E-10A-01W-A055-09 AGA AGA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa018a20-2c26-4d47-831f-75280b6464df 305efad7-ff5c-4c4a-8f59-2f5fd43710ec 3 46415073 46415075 AGA - DEL CCR5 ENST00000292303 human ensembl 69_37n +1 known in_frame_del c.680_682 p.K229in_frame_del 0.263:0.285:0.696 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Chemokine_CCR1 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Chemokine_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Chemokine_CCR5,prints_Chemokine_CCR1,prints_ATII_rcpt - no_errors CCR5 HGNC ENSG00000160791 83 0 0.00 137 40 22.60 - - - CDK12 0 genome.wustl.edu 37 17 37687471 37687472 + Frame_Shift_Ins INS - - G TCGA-A8-A07E-01A-11W-A050-09 TCGA-A8-A07E-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa018a20-2c26-4d47-831f-75280b6464df 305efad7-ff5c-4c4a-8f59-2f5fd43710ec 17 37687471 37687472 - G INS CDK12 ENST00000447079 human ensembl 69_37n +1 known frame_shift_ins c.4375_4376 p.P1463fs 1.000:1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CDK12 HGNC ENSG00000167258 25 0 0.00 51 6 10.53 - - - CDKN1B 0 genome.wustl.edu 37 12 12870853 12870853 + Nonsense_Mutation SNP C C A TCGA-A8-A07E-01A-11W-A050-09 TCGA-A8-A07E-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa018a20-2c26-4d47-831f-75280b6464df 305efad7-ff5c-4c4a-8f59-2f5fd43710ec 12 12870853 12870853 C A SNP CDKN1B ENST00000228872 human ensembl 69_37n +1 known nonsense c.80 p.S27* 1.000 NULL pfam_CDI - no_errors CDKN1B HGNC ENSG00000111276 25 0 0.00 18 7 28.00 - - - CEP128 0 genome.wustl.edu 37 14 81297497 81297497 + Missense_Mutation SNP G G A TCGA-A8-A07E-01A-11W-A050-09 TCGA-A8-A07E-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa018a20-2c26-4d47-831f-75280b6464df 305efad7-ff5c-4c4a-8f59-2f5fd43710ec 14 81297497 81297497 G A SNP CEP128 ENST00000281129 human ensembl 69_37n -1 known missense c.1199 p.S400L 0.844 NULL NULL - no_errors CEP128 HGNC ENSG00000100629 163 0 0.00 188 163 46.44 - - - CHM 0 genome.wustl.edu 37 X 85128090 85128090 + Missense_Mutation SNP A A T TCGA-A8-A07E-01A-11W-A050-09 TCGA-A8-A07E-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa018a20-2c26-4d47-831f-75280b6464df 305efad7-ff5c-4c4a-8f59-2f5fd43710ec X 85128090 85128090 A T SNP CHM ENST00000357749 human ensembl 69_37n -1 known missense c.1737 p.D579E 0.495 pirsf_Rab_geranylTrfase_A_euk,prints_Rab_escort pfam_GDP_dissociation_inhibitor,pirsf_Rab_geranylTrfase_A_euk,prints_Rab_escort,prints_GDP_dissociation_inhibitor - no_errors CHM HGNC ENSG00000188419 122 0 0.00 89 46 34.07 - - - CTSE 0 genome.wustl.edu 37 1 206319212 206319212 + Missense_Mutation SNP G G A TCGA-A8-A07E-01A-11W-A050-09 TCGA-A8-A07E-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa018a20-2c26-4d47-831f-75280b6464df 305efad7-ff5c-4c4a-8f59-2f5fd43710ec 1 206319212 206319212 G A SNP CTSE ENST00000361052 human ensembl 69_37n +1 known missense c.337 p.A113T 1.000 pfam_Peptidase_A1,superfamily_Peptidase_aspartic pfam_Peptidase_A1,pfam_Propep_A1,superfamily_Peptidase_aspartic,prints_Peptidase_A1 - no_errors CTSE HGNC ENSG00000196188 74 0 0.00 82 79 48.77 - - - CYFIP2 0 genome.wustl.edu 37 5 156747679 156747679 + Missense_Mutation SNP C C G TCGA-A8-A07E-01A-11W-A050-09 TCGA-A8-A07E-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa018a20-2c26-4d47-831f-75280b6464df 305efad7-ff5c-4c4a-8f59-2f5fd43710ec 5 156747679 156747679 C G SNP CYFIP2 ENST00000318218 human ensembl 69_37n +1 known missense c.1540 p.R514G 1.000 pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int - no_errors CYFIP2 HGNC ENSG00000055163 52 0 0.00 52 14 21.21 - - - DHRS4-AS1 0 genome.wustl.edu 37 14 24423284 24423284 + RNA SNP G G A TCGA-A8-A07E-01A-11W-A050-09 TCGA-A8-A07E-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa018a20-2c26-4d47-831f-75280b6464df 305efad7-ff5c-4c4a-8f59-2f5fd43710ec 14 24423284 24423284 G A SNP DHRS4-AS1 ENST00000556379 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors DHRS4-AS1 HGNC ENSG00000215256 29 0 0.00 13 7 35.00 - - - DNHD1 0 genome.wustl.edu 37 11 6566572 6566573 + In_Frame_Ins INS - - GTG TCGA-A8-A07E-01A-11W-A050-09 TCGA-A8-A07E-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa018a20-2c26-4d47-831f-75280b6464df 305efad7-ff5c-4c4a-8f59-2f5fd43710ec 11 6566572 6566573 - GTG INS DNHD1 ENST00000254579 human ensembl 69_37n +1 known in_frame_ins c.4403_4404 p.1469in_frame_insC 0.997:0.881 NULL pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy,superfamily_t-SNARE - no_errors DNHD1 HGNC ENSG00000179532 128 0 0.00 88 88 50.00 - - - DYNC1H1 0 genome.wustl.edu 37 14 102467878 102467878 + Nonsense_Mutation SNP G G T TCGA-A8-A07E-01A-11W-A050-09 TCGA-A8-A07E-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa018a20-2c26-4d47-831f-75280b6464df 305efad7-ff5c-4c4a-8f59-2f5fd43710ec 14 102467878 102467878 G T SNP DYNC1H1 ENST00000360184 human ensembl 69_37n +1 known nonsense c.4402 p.E1468* 1.000 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase - no_errors DYNC1H1 HGNC ENSG00000197102 94 0 0.00 270 40 12.90 - - - EDC4 0 genome.wustl.edu 37 16 67911254 67911254 + Missense_Mutation SNP G G A TCGA-A8-A07E-01A-11W-A050-09 TCGA-A8-A07E-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa018a20-2c26-4d47-831f-75280b6464df 305efad7-ff5c-4c4a-8f59-2f5fd43710ec 16 67911254 67911254 G A SNP EDC4 ENST00000358933 human ensembl 69_37n +1 known missense c.586 p.D196N 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EDC4 HGNC ENSG00000038358 121 0 0.00 64 37 36.63 - - - FAM227B 0 genome.wustl.edu 37 15 49620836 49620836 + Missense_Mutation SNP A A T TCGA-A8-A07E-01A-11W-A050-09 TCGA-A8-A07E-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa018a20-2c26-4d47-831f-75280b6464df 305efad7-ff5c-4c4a-8f59-2f5fd43710ec 15 49620836 49620836 A T SNP FAM227B ENST00000299338 human ensembl 69_37n -1 known missense c.1456 p.S486T 0.220 NULL NULL - no_errors FAM227B HGNC ENSG00000166262 191 0 0.00 166 48 22.43 - - - FARP2 0 genome.wustl.edu 37 2 242402858 242402859 + Frame_Shift_Ins INS - - T TCGA-A8-A07E-01A-11W-A050-09 TCGA-A8-A07E-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa018a20-2c26-4d47-831f-75280b6464df 305efad7-ff5c-4c4a-8f59-2f5fd43710ec 2 242402858 242402859 - T INS FARP2 ENST00000264042 human ensembl 69_37n +1 known frame_shift_ins c.1786_1787 p.E596fs 0.995:1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_Pleckstrin_homology,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_FERM-adjacent,superfamily_DH-domain,superfamily_FERM_central,smart_Band_41_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_FERM_domain,pfscan_Pleckstrin_homology,pfscan_DH-domain,prints_Band_41_fam,prints_Ez/rad/moesin - no_errors FARP2 HGNC ENSG00000006607 55 0 0.00 98 185 65.37 - - - FEZ1 0 genome.wustl.edu 37 11 125325768 125325768 + Missense_Mutation SNP C C T TCGA-A8-A07E-01A-11W-A050-09 TCGA-A8-A07E-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa018a20-2c26-4d47-831f-75280b6464df 305efad7-ff5c-4c4a-8f59-2f5fd43710ec 11 125325768 125325768 C T SNP FEZ1 ENST00000278919 human ensembl 69_37n -1 known missense c.902 p.S301N 0.996 NULL pfam_FEZ - no_errors FEZ1 HGNC ENSG00000149557 114 0 0.00 114 63 35.59 - - - FSIP1 0 genome.wustl.edu 37 15 39910370 39910371 + Frame_Shift_Ins INS - - T TCGA-A8-A07E-01A-11W-A050-09 TCGA-A8-A07E-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa018a20-2c26-4d47-831f-75280b6464df 305efad7-ff5c-4c4a-8f59-2f5fd43710ec 15 39910370 39910371 - T INS FSIP1 ENST00000350221 human ensembl 69_37n -1 known frame_shift_ins c.1265_1264 p.I422fs 0.004:0.021 NULL NULL - no_errors FSIP1 HGNC ENSG00000150667 68 0 0.00 75 32 29.91 - - - GLE1 0 genome.wustl.edu 37 9 131296055 131296057 + In_Frame_Del DEL GAA GAA - TCGA-A8-A07E-01A-11W-A050-09 TCGA-A8-A07E-10A-01W-A055-09 GAA GAA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa018a20-2c26-4d47-831f-75280b6464df 305efad7-ff5c-4c4a-8f59-2f5fd43710ec 9 131296055 131296057 GAA - DEL GLE1 ENST00000309971 human ensembl 69_37n +1 known in_frame_del c.1471_1473 p.E491in_frame_del 1.000:0.995:1.000 pfam_GLE1 pfam_GLE1 - no_errors GLE1 HGNC ENSG00000119392 68 0 0.00 93 22 19.13 - - - GLE1 0 genome.wustl.edu 37 9 131296060 131296063 + Frame_Shift_Del DEL GGCC GGCC - TCGA-A8-A07E-01A-11W-A050-09 TCGA-A8-A07E-10A-01W-A055-09 GGCC GGCC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa018a20-2c26-4d47-831f-75280b6464df 305efad7-ff5c-4c4a-8f59-2f5fd43710ec 9 131296060 131296063 GGCC - DEL GLE1 ENST00000309971 human ensembl 69_37n +1 known frame_shift_del c.1476_1479 p.A493fs 1.000:1.000:0.997:1.000 pfam_GLE1 pfam_GLE1 - no_errors GLE1 HGNC ENSG00000119392 68 0 0.00 88 22 19.30 - - - GLRA4 0 genome.wustl.edu 37 X 102962343 102962344 + Frame_Shift_Del DEL TG TG - TCGA-A8-A07E-01A-11W-A050-09 TCGA-A8-A07E-10A-01W-A055-09 TG TG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa018a20-2c26-4d47-831f-75280b6464df 305efad7-ff5c-4c4a-8f59-2f5fd43710ec X 102962343 102962344 TG - DEL GLRA4 ENST00000372617 human ensembl 69_37n -1 known frame_shift_del c.1183_1182 p.I395fs 0.935:0.791 NULL pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_Glycine_rcpt_A,prints_Neur_channel,tigrfam_Neur_channel - no_errors GLRA4 HGNC ENSG00000188828 185 0 0.00 171 79 30.98 - - - GP6 0 genome.wustl.edu 37 19 55543873 55543873 + Splice_Site SNP C C T TCGA-A8-A07E-01A-11W-A050-09 TCGA-A8-A07E-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa018a20-2c26-4d47-831f-75280b6464df 305efad7-ff5c-4c4a-8f59-2f5fd43710ec 19 55543873 55543873 C T SNP GP6 ENST00000310373 human ensembl 69_37n -1 known splice_site c.67+1 e2+1 0.980 - - - no_errors GP6 HGNC ENSG00000088053 75 0 0.00 95 26 21.49 - - - GPRIN1 0 genome.wustl.edu 37 5 176026586 176026589 + Frame_Shift_Del DEL AGCA AGCA - TCGA-A8-A07E-01A-11W-A050-09 TCGA-A8-A07E-10A-01W-A055-09 AGCA AGCA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa018a20-2c26-4d47-831f-75280b6464df 305efad7-ff5c-4c4a-8f59-2f5fd43710ec 5 176026586 176026589 AGCA - DEL GPRIN1 ENST00000303991 human ensembl 69_37n -1 known frame_shift_del c.250_247 p.C83fs 0.030:0.015:0.012:0.139 NULL NULL - no_errors GPRIN1 HGNC ENSG00000169258 23 0 0.00 16 43 68.25 - - - IFT122 0 genome.wustl.edu 37 3 129180117 129180117 + Nonsense_Mutation SNP C C T TCGA-A8-A07E-01A-11W-A050-09 TCGA-A8-A07E-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa018a20-2c26-4d47-831f-75280b6464df 305efad7-ff5c-4c4a-8f59-2f5fd43710ec 3 129180117 129180117 C T SNP IFT122 ENST00000296266 human ensembl 69_37n +1 known nonsense c.472 p.Q158* 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors IFT122 HGNC ENSG00000163913 135 0 0.00 192 33 14.60 - - - KIF2B 0 genome.wustl.edu 37 17 51901164 51901164 + Missense_Mutation SNP G G A TCGA-A8-A07E-01A-11W-A050-09 TCGA-A8-A07E-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa018a20-2c26-4d47-831f-75280b6464df 305efad7-ff5c-4c4a-8f59-2f5fd43710ec 17 51901164 51901164 G A SNP KIF2B ENST00000268919 human ensembl 69_37n +1 known missense c.770 p.R257H 1.000 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF2B HGNC ENSG00000141200 96 0 0.00 71 40 36.04 - - - KLHL20 0 genome.wustl.edu 37 1 173703348 173703349 + Frame_Shift_Del DEL CG CG - TCGA-A8-A07E-01A-11W-A050-09 TCGA-A8-A07E-10A-01W-A055-09 CG CG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa018a20-2c26-4d47-831f-75280b6464df 305efad7-ff5c-4c4a-8f59-2f5fd43710ec 1 173703348 173703349 CG - DEL KLHL20 ENST00000209884 human ensembl 69_37n +1 known frame_shift_del c.520_521 p.R174fs 1.000:1.000 pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL20 HGNC ENSG00000076321 98 0 0.00 173 77 30.80 - - - LAMB3 0 genome.wustl.edu 37 1 209790889 209790889 + Missense_Mutation SNP T T A TCGA-A8-A07E-01A-11W-A050-09 TCGA-A8-A07E-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa018a20-2c26-4d47-831f-75280b6464df 305efad7-ff5c-4c4a-8f59-2f5fd43710ec 1 209790889 209790889 T A SNP LAMB3 ENST00000356082 human ensembl 69_37n -1 known missense c.3094 p.M1032L 0.912 NULL pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB3 HGNC ENSG00000196878 96 0 0.00 169 36 17.48 - - - LLGL1 0 genome.wustl.edu 37 17 18140040 18140042 + In_Frame_Del DEL AGG AGG - TCGA-A8-A07E-01A-11W-A050-09 TCGA-A8-A07E-10A-01W-A055-09 AGG AGG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa018a20-2c26-4d47-831f-75280b6464df 305efad7-ff5c-4c4a-8f59-2f5fd43710ec 17 18140040 18140042 AGG - DEL LLGL1 ENST00000316843 human ensembl 69_37n +1 known in_frame_del c.1472_1474 p.QA491in_frame_delP 1.000:1.000:1.000 superfamily_WD40_repeat_dom pfam_LLGL2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_Lethal2_giant,pfscan_WD40_repeat - no_errors LLGL1 HGNC ENSG00000131899 17 0 0.00 4 4 50.00 - - - LLGL1 0 genome.wustl.edu 37 17 18140048 18140050 + In_Frame_Del DEL GAG GAG - TCGA-A8-A07E-01A-11W-A050-09 TCGA-A8-A07E-10A-01W-A055-09 GAG GAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa018a20-2c26-4d47-831f-75280b6464df 305efad7-ff5c-4c4a-8f59-2f5fd43710ec 17 18140048 18140050 GAG - DEL LLGL1 ENST00000316843 human ensembl 69_37n +1 known in_frame_del c.1480_1482 p.E494in_frame_del 1.000:1.000:1.000 superfamily_WD40_repeat_dom pfam_LLGL2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_Lethal2_giant,pfscan_WD40_repeat - no_errors LLGL1 HGNC ENSG00000131899 17 0 0.00 5 4 44.44 - - - LRP5L 0 genome.wustl.edu 37 22 25750714 25750714 + Missense_Mutation SNP C C A TCGA-A8-A07E-01A-11W-A050-09 TCGA-A8-A07E-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa018a20-2c26-4d47-831f-75280b6464df 305efad7-ff5c-4c4a-8f59-2f5fd43710ec 22 25750714 25750714 C A SNP LRP5L ENST00000402785 human ensembl 69_37n -1 known missense c.504 p.R168S 1.000 smart_LDLR_classB_rpt pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt - no_errors LRP5L HGNC ENSG00000100068 140 0 0.00 293 44 13.06 - - - LRRC16B 0 genome.wustl.edu 37 14 24524512 24524512 + Missense_Mutation SNP G G A TCGA-A8-A07E-01A-11W-A050-09 TCGA-A8-A07E-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa018a20-2c26-4d47-831f-75280b6464df 305efad7-ff5c-4c4a-8f59-2f5fd43710ec 14 24524512 24524512 G A SNP LRRC16B ENST00000342740 human ensembl 69_37n +1 known missense c.598 p.E200K 1.000 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC16B HGNC ENSG00000186648 118 0 0.00 148 36 19.57 - - - MAP1A 0 genome.wustl.edu 37 15 43813948 43813948 + Missense_Mutation SNP G G A TCGA-A8-A07E-01A-11W-A050-09 TCGA-A8-A07E-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa018a20-2c26-4d47-831f-75280b6464df 305efad7-ff5c-4c4a-8f59-2f5fd43710ec 15 43813948 43813948 G A SNP MAP1A ENST00000399453 human ensembl 69_37n +1 known missense c.277 p.D93N 1.000 NULL NULL - no_errors MAP1A HGNC ENSG00000166963 73 0 0.00 137 63 31.50 - - - MAP1A 0 genome.wustl.edu 37 15 43814110 43814110 + Missense_Mutation SNP G G C TCGA-A8-A07E-01A-11W-A050-09 TCGA-A8-A07E-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa018a20-2c26-4d47-831f-75280b6464df 305efad7-ff5c-4c4a-8f59-2f5fd43710ec 15 43814110 43814110 G C SNP MAP1A ENST00000399453 human ensembl 69_37n +1 known missense c.439 p.D147H 1.000 NULL NULL - no_errors MAP1A HGNC ENSG00000166963 77 0 0.00 87 42 32.56 - - - MAP1A 0 genome.wustl.edu 37 15 43814496 43814496 + Silent SNP G G A TCGA-A8-A07E-01A-11W-A050-09 TCGA-A8-A07E-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa018a20-2c26-4d47-831f-75280b6464df 305efad7-ff5c-4c4a-8f59-2f5fd43710ec 15 43814496 43814496 G A SNP MAP1A ENST00000399453 human ensembl 69_37n +1 known silent c.825 p.K275 1.000 NULL NULL - no_errors MAP1A HGNC ENSG00000166963 57 0 0.00 92 28 23.33 - - - MAP1A 0 genome.wustl.edu 37 15 43814971 43814971 + Missense_Mutation SNP G G A TCGA-A8-A07E-01A-11W-A050-09 TCGA-A8-A07E-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa018a20-2c26-4d47-831f-75280b6464df 305efad7-ff5c-4c4a-8f59-2f5fd43710ec 15 43814971 43814971 G A SNP MAP1A ENST00000399453 human ensembl 69_37n +1 known missense c.1300 p.E434K 0.993 NULL NULL - no_errors MAP1A HGNC ENSG00000166963 89 0 0.00 101 33 24.63 - - - MAP1A 0 genome.wustl.edu 37 15 43817718 43817718 + Silent SNP G G A TCGA-A8-A07E-01A-11W-A050-09 TCGA-A8-A07E-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa018a20-2c26-4d47-831f-75280b6464df 305efad7-ff5c-4c4a-8f59-2f5fd43710ec 15 43817718 43817718 G A SNP MAP1A ENST00000399453 human ensembl 69_37n +1 known silent c.4047 p.L1349 0.001 NULL NULL - no_errors MAP1A HGNC ENSG00000166963 114 0 0.00 176 56 24.14 - - - MAP1A 0 genome.wustl.edu 37 15 43818874 43818874 + Missense_Mutation SNP G G A TCGA-A8-A07E-01A-11W-A050-09 TCGA-A8-A07E-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa018a20-2c26-4d47-831f-75280b6464df 305efad7-ff5c-4c4a-8f59-2f5fd43710ec 15 43818874 43818874 G A SNP MAP1A ENST00000399453 human ensembl 69_37n +1 known missense c.5203 p.D1735N 0.970 NULL NULL - no_errors MAP1A HGNC ENSG00000166963 70 0 0.00 98 29 22.66 - - - MARC1 0 genome.wustl.edu 37 1 220971248 220971248 + Missense_Mutation SNP C C T TCGA-A8-A07E-01A-11W-A050-09 TCGA-A8-A07E-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa018a20-2c26-4d47-831f-75280b6464df 305efad7-ff5c-4c4a-8f59-2f5fd43710ec 1 220971248 220971248 C T SNP MARC1 ENST00000463976 human ensembl 69_37n +1 known missense c.86 p.S29F 0.000 pfam_MoCF_Sase_C pfam_MoCF_Sase_C - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region MARC1 HGNC ENSG00000186205 193 0 0.00 247 156 38.71 - - - MDN1 0 genome.wustl.edu 37 6 90418279 90418279 + Missense_Mutation SNP C C G TCGA-A8-A07E-01A-11W-A050-09 TCGA-A8-A07E-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa018a20-2c26-4d47-831f-75280b6464df 305efad7-ff5c-4c4a-8f59-2f5fd43710ec 6 90418279 90418279 C G SNP MDN1 ENST00000369393 human ensembl 69_37n -1 known missense c.7834 p.D2612H 1.000 pirsf_Midasin pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC ENSG00000112159 277 0 0.00 279 89 24.12 - - - MED13L 0 genome.wustl.edu 37 12 116450669 116450669 + Missense_Mutation SNP G G A TCGA-A8-A07E-01A-11W-A050-09 TCGA-A8-A07E-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa018a20-2c26-4d47-831f-75280b6464df 305efad7-ff5c-4c4a-8f59-2f5fd43710ec 12 116450669 116450669 G A SNP MED13L ENST00000281928 human ensembl 69_37n -1 known missense c.1213 p.P405S 0.984 NULL pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun - no_errors MED13L HGNC ENSG00000123066 221 0 0.00 219 74 25.08 - - - MLL3 0 genome.wustl.edu 37 7 151960160 151960160 + Missense_Mutation SNP G G A TCGA-A8-A07E-01A-11W-A050-09 TCGA-A8-A07E-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa018a20-2c26-4d47-831f-75280b6464df 305efad7-ff5c-4c4a-8f59-2f5fd43710ec 7 151960160 151960160 G A SNP MLL3 ENST00000355193 human ensembl 69_37n -1 known missense c.1240 p.H414Y 1.000 pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Znf_RING,pfscan_Znf_PHD-finger pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL3 HGNC ENSG00000055609 184 0 0.00 215 39 15.35 - - - MYO1F 0 genome.wustl.edu 37 19 8615476 8615476 + Missense_Mutation SNP C C T TCGA-A8-A07E-01A-11W-A050-09 TCGA-A8-A07E-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa018a20-2c26-4d47-831f-75280b6464df 305efad7-ff5c-4c4a-8f59-2f5fd43710ec 19 8615476 8615476 C T SNP MYO1F ENST00000338257 human ensembl 69_37n -1 known missense c.874 p.G292R 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_SH3_domain,prints_Myosin_head_motor_dom,prints_SH3_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_SH3_domain - no_errors MYO1F HGNC ENSG00000142347 81 0 0.00 128 35 21.47 - - - MYO9B 0 genome.wustl.edu 37 19 17212961 17212961 + Missense_Mutation SNP A A G TCGA-A8-A07E-01A-11W-A050-09 TCGA-A8-A07E-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa018a20-2c26-4d47-831f-75280b6464df 305efad7-ff5c-4c4a-8f59-2f5fd43710ec 19 17212961 17212961 A G SNP MYO9B ENST00000397274 human ensembl 69_37n +1 known missense c.434 p.Q145R 1.000 smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom - no_errors MYO9B HGNC ENSG00000099331 42 0 0.00 60 19 23.75 - - - NCK2 0 genome.wustl.edu 37 2 106471553 106471553 + Missense_Mutation SNP G G T TCGA-A8-A07E-01A-11W-A050-09 TCGA-A8-A07E-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa018a20-2c26-4d47-831f-75280b6464df 305efad7-ff5c-4c4a-8f59-2f5fd43710ec 2 106471553 106471553 G T SNP NCK2 ENST00000233154 human ensembl 69_37n +1 known missense c.34 p.D12Y 1.000 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pirsf_Cytoplasmic_NCK,pfscan_SH3_domain,prints_SH3_domain pfam_SH3_domain,pfam_SH3_2,pfam_SH2,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,pirsf_Cytoplasmic_NCK,pfscan_SH2,pfscan_SH3_domain,prints_SH2,prints_SH3_domain - no_errors NCK2 HGNC ENSG00000071051 176 0 0.00 163 52 24.07 - - - NEK2 0 genome.wustl.edu 37 1 211848787 211848787 + Missense_Mutation SNP T T C TCGA-A8-A07E-01A-11W-A050-09 TCGA-A8-A07E-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa018a20-2c26-4d47-831f-75280b6464df 305efad7-ff5c-4c4a-8f59-2f5fd43710ec 1 211848787 211848787 T C SNP NEK2 ENST00000366999 human ensembl 69_37n -1 known missense c.35 p.Y12C 0.996 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 NEK2 HGNC ENSG00000117650 45 0 0.00 91 16 14.95 - - - NRAP 0 genome.wustl.edu 37 10 115385844 115385845 + Frame_Shift_Ins INS - - C TCGA-A8-A07E-01A-11W-A050-09 TCGA-A8-A07E-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa018a20-2c26-4d47-831f-75280b6464df 305efad7-ff5c-4c4a-8f59-2f5fd43710ec 10 115385844 115385845 - C INS NRAP ENST00000369358 human ensembl 69_37n -1 known frame_shift_ins c.2230_2229 p.M743fs 1.000:1.000 pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_Znf_LIM,smart_Znf_LIM,smart_Nebulin_35r-motif,pfscan_Znf_LIM,pfscan_Nebulin_35r-motif,prints_Nebulin - no_errors NRAP HGNC ENSG00000197893 161 0 0.00 567 1352 70.45 - - - OTUD4 0 genome.wustl.edu 37 4 146076763 146076763 + Missense_Mutation SNP A A G TCGA-A8-A07E-01A-11W-A050-09 TCGA-A8-A07E-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa018a20-2c26-4d47-831f-75280b6464df 305efad7-ff5c-4c4a-8f59-2f5fd43710ec 4 146076763 146076763 A G SNP OTUD4 ENST00000447906 human ensembl 69_37n -1 known missense c.766 p.Y256H 1.000 NULL pfam_OTU,pfscan_OTU - no_errors OTUD4 HGNC ENSG00000164164 88 0 0.00 70 40 36.36 - - - PHF6 0 genome.wustl.edu 37 X 133527637 133527637 + Missense_Mutation SNP G G A TCGA-A8-A07E-01A-11W-A050-09 TCGA-A8-A07E-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa018a20-2c26-4d47-831f-75280b6464df 305efad7-ff5c-4c4a-8f59-2f5fd43710ec X 133527637 133527637 G A SNP PHF6 ENST00000394292 human ensembl 69_37n +1 known missense c.347 p.R116Q 1.000 superfamily_Znf_FYVE_PHD,smart_Znf_PHD superfamily_Znf_FYVE_PHD,smart_Znf_PHD - no_errors PHF6 HGNC ENSG00000156531 114 0 0.00 164 27 14.14 - - - POLR2B 0 genome.wustl.edu 37 4 57876368 57876368 + Splice_Site SNP T T G TCGA-A8-A07E-01A-11W-A050-09 TCGA-A8-A07E-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa018a20-2c26-4d47-831f-75280b6464df 305efad7-ff5c-4c4a-8f59-2f5fd43710ec 4 57876368 57876368 T G SNP POLR2B ENST00000510355 human ensembl 69_37n +1 known splice_site c.NULL NULL 0.001 - - - no_errors POLR2B HGNC ENSG00000047315 10 0 0.00 6 20 76.92 - - - PQLC2 0 genome.wustl.edu 37 1 19655106 19655106 + Missense_Mutation SNP C C T TCGA-A8-A07E-01A-11W-A050-09 TCGA-A8-A07E-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa018a20-2c26-4d47-831f-75280b6464df 305efad7-ff5c-4c4a-8f59-2f5fd43710ec 1 19655106 19655106 C T SNP PQLC2 ENST00000375153 human ensembl 69_37n +1 known missense c.845 p.A282V 0.010 NULL superfamily_MFS_dom_general_subst_transpt,smart_CTNS - no_errors PQLC2 HGNC ENSG00000040487 28 0 0.00 25 8 24.24 - - - PRAMEF4 0 genome.wustl.edu 37 1 12941807 12941807 + Missense_Mutation SNP C C T TCGA-A8-A07E-01A-11W-A050-09 TCGA-A8-A07E-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa018a20-2c26-4d47-831f-75280b6464df 305efad7-ff5c-4c4a-8f59-2f5fd43710ec 1 12941807 12941807 C T SNP PRAMEF4 ENST00000235349 human ensembl 69_37n -1 known missense c.743 p.R248H 0.000 NULL NULL - no_errors PRAMEF4 HGNC ENSG00000243073 17 0 0.00 52 17 24.64 - - - PSG1 0 genome.wustl.edu 37 19 43375943 43375943 + Missense_Mutation SNP C C T TCGA-A8-A07E-01A-11W-A050-09 TCGA-A8-A07E-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa018a20-2c26-4d47-831f-75280b6464df 305efad7-ff5c-4c4a-8f59-2f5fd43710ec 19 43375943 43375943 C T SNP PSG1 ENST00000312439 human ensembl 69_37n -1 known missense c.685 p.D229N 0.109 smart_Ig_sub,pfscan_Ig-like pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors PSG1 HGNC ENSG00000231924 206 0 0.00 224 62 21.60 - - - RBMXL3 0 genome.wustl.edu 37 X 114425006 114425006 + Silent SNP C C T TCGA-A8-A07E-01A-11W-A050-09 TCGA-A8-A07E-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa018a20-2c26-4d47-831f-75280b6464df 305efad7-ff5c-4c4a-8f59-2f5fd43710ec X 114425006 114425006 C T SNP RBMXL3 ENST00000424776 human ensembl 69_37n +1 known silent c.1002 p.G334 0.008 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBMXL3 HGNC ENSG00000175718 23 0 0.00 11 6 35.29 - - - RBP3 0 genome.wustl.edu 37 10 48388061 48388064 + Frame_Shift_Del DEL CGTG CGTG - TCGA-A8-A07E-01A-11W-A050-09 TCGA-A8-A07E-10A-01W-A055-09 CGTG CGTG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa018a20-2c26-4d47-831f-75280b6464df 305efad7-ff5c-4c4a-8f59-2f5fd43710ec 10 48388061 48388064 CGTG - DEL RBP3 ENST00000224600 human ensembl 69_37n -1 known frame_shift_del c.2817_2814 p.T939fs 0.002:0.995:0.997:1.000 NULL pfam_Interphotoreceptor_retinol-bd,pfam_Interphotorcpt_retinol-bd_N,smart_Interphotoreceptor_retinol-bd - no_errors RBP3 HGNC ENSG00000107618 19 0 0.00 10 63 82.89 - - - RBP3 0 genome.wustl.edu 37 10 48388069 48388069 + Frame_Shift_Del DEL C C - TCGA-A8-A07E-01A-11W-A050-09 TCGA-A8-A07E-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa018a20-2c26-4d47-831f-75280b6464df 305efad7-ff5c-4c4a-8f59-2f5fd43710ec 10 48388069 48388069 C - DEL RBP3 ENST00000224600 human ensembl 69_37n -1 known frame_shift_del c.2809 p.V937fs 1.000 NULL pfam_Interphotoreceptor_retinol-bd,pfam_Interphotorcpt_retinol-bd_N,smart_Interphotoreceptor_retinol-bd - no_errors RBP3 HGNC ENSG00000107618 18 0 0.00 6 63 91.30 - - - RHBDD2 0 genome.wustl.edu 37 7 75513141 75513141 + Missense_Mutation SNP G G A TCGA-A8-A07E-01A-11W-A050-09 TCGA-A8-A07E-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa018a20-2c26-4d47-831f-75280b6464df 305efad7-ff5c-4c4a-8f59-2f5fd43710ec 7 75513141 75513141 G A SNP RHBDD2 ENST00000006777 human ensembl 69_37n +1 known missense c.712 p.E238K 0.993 NULL pfam_Peptidase_S54_rhomboid_dom - no_errors RHBDD2 HGNC ENSG00000005486 46 0 0.00 89 24 21.24 - - - RSPH4A 0 genome.wustl.edu 37 6 116937994 116937994 + Frame_Shift_Del DEL C C - TCGA-A8-A07E-01A-11W-A050-09 TCGA-A8-A07E-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa018a20-2c26-4d47-831f-75280b6464df 305efad7-ff5c-4c4a-8f59-2f5fd43710ec 6 116937994 116937994 C - DEL RSPH4A ENST00000229554 human ensembl 69_37n +1 known frame_shift_del c.208 p.P70fs 0.000 NULL pfam_Radial_spoke - no_errors RSPH4A HGNC ENSG00000111834 70 0 0.00 135 66 32.67 - - - SBNO2 0 genome.wustl.edu 37 19 1119121 1119121 + Frame_Shift_Del DEL G G - TCGA-A8-A07E-01A-11W-A050-09 TCGA-A8-A07E-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa018a20-2c26-4d47-831f-75280b6464df 305efad7-ff5c-4c4a-8f59-2f5fd43710ec 19 1119121 1119121 G - DEL SBNO2 ENST00000361757 human ensembl 69_37n -1 known frame_shift_del c.1416 p.S473fs 1.000 NULL NULL - no_errors SBNO2 HGNC ENSG00000064932 17 0 0.00 12 28 66.67 - - - SIX4 0 genome.wustl.edu 37 14 61186564 61186564 + Missense_Mutation SNP T T C TCGA-A8-A07E-01A-11W-A050-09 TCGA-A8-A07E-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa018a20-2c26-4d47-831f-75280b6464df 305efad7-ff5c-4c4a-8f59-2f5fd43710ec 14 61186564 61186564 T C SNP SIX4 ENST00000216513 human ensembl 69_37n -1 known missense c.1463 p.N488S 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors SIX4 HGNC ENSG00000100625 88 0 0.00 94 32 25.20 - - - SLC4A5 0 genome.wustl.edu 37 2 74452069 74452069 + Missense_Mutation SNP G G T TCGA-A8-A07E-01A-11W-A050-09 TCGA-A8-A07E-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa018a20-2c26-4d47-831f-75280b6464df 305efad7-ff5c-4c4a-8f59-2f5fd43710ec 2 74452069 74452069 G T SNP SLC4A5 ENST00000357822 human ensembl 69_37n -1 known missense c.3192 p.H1064Q 0.986 tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk - no_errors SLC4A5 HGNC ENSG00000188687 188 0 0.00 234 90 27.78 - - - SPDYE3 0 genome.wustl.edu 37 7 99912241 99912241 + Missense_Mutation SNP G G A TCGA-A8-A07E-01A-11W-A050-09 TCGA-A8-A07E-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa018a20-2c26-4d47-831f-75280b6464df 305efad7-ff5c-4c4a-8f59-2f5fd43710ec 7 99912241 99912241 G A SNP SPDYE3 ENST00000332397 human ensembl 69_37n +1 known missense c.1069 p.E357K 0.061 NULL pfam_Cell_cycle_regulatory_Spy1 - no_errors SPDYE3 HGNC ENSG00000214300 382 0 0.00 395 155 28.18 - - - STAB1 0 genome.wustl.edu 37 3 52543929 52543930 + Frame_Shift_Ins INS - - G TCGA-A8-A07E-01A-11W-A050-09 TCGA-A8-A07E-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa018a20-2c26-4d47-831f-75280b6464df 305efad7-ff5c-4c4a-8f59-2f5fd43710ec 3 52543929 52543930 - G INS STAB1 ENST00000321725 human ensembl 69_37n +1 known frame_shift_ins c.2391_2392 p.V799fs 0.997:0.999 smart_EGF-like pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,smart_EGF-like,smart_EGF_laminin,smart_FAS1_domain,smart_EGF-like_Ca-bd,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB1 HGNC ENSG00000010327 11 0 0.00 8 2 20.00 - - - TLN1 0 genome.wustl.edu 37 9 35706019 35706019 + Frame_Shift_Del DEL T T - TCGA-A8-A07E-01A-11W-A050-09 TCGA-A8-A07E-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa018a20-2c26-4d47-831f-75280b6464df 305efad7-ff5c-4c4a-8f59-2f5fd43710ec 9 35706019 35706019 T - DEL TLN1 ENST00000314888 human ensembl 69_37n -1 known frame_shift_del c.5451 p.A1818fs 0.886 superfamily_Vinculin/catenin pfam_Talin_cent,pfam_Vinculin-bd_dom,pfam_ILWEQ,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ,pfscan_FERM_domain,pfscan_ILWEQ - no_errors TLN1 HGNC ENSG00000137076 127 0 0.00 191 179 47.86 - - - TMC4 0 genome.wustl.edu 37 19 54665951 54665951 + Missense_Mutation SNP C C T TCGA-A8-A07E-01A-11W-A050-09 TCGA-A8-A07E-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa018a20-2c26-4d47-831f-75280b6464df 305efad7-ff5c-4c4a-8f59-2f5fd43710ec 19 54665951 54665951 C T SNP TMC4 ENST00000301187 human ensembl 69_37n -1 known missense c.1573 p.E525K 0.990 pfam_TMC pfam_TMC - no_errors TMC4 HGNC ENSG00000167608 61 0 0.00 65 12 15.58 - - - TOPBP1 0 genome.wustl.edu 37 3 133327397 133327397 + Silent SNP A A G TCGA-A8-A07E-01A-11W-A050-09 TCGA-A8-A07E-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa018a20-2c26-4d47-831f-75280b6464df 305efad7-ff5c-4c4a-8f59-2f5fd43710ec 3 133327397 133327397 A G SNP TOPBP1 ENST00000260810 human ensembl 69_37n -1 known silent c.4407 p.I1469 0.986 superfamily_BRCT_dom pfam_BRCT_dom,superfamily_BRCT_dom,superfamily_Secretoglobin,smart_BRCT_dom,pfscan_BRCT_dom - no_errors TOPBP1 HGNC ENSG00000163781 79 0 0.00 84 14 14.29 - - - TTC32 0 genome.wustl.edu 37 2 20101597 20101597 + Missense_Mutation SNP C C T TCGA-A8-A07E-01A-11W-A050-09 TCGA-A8-A07E-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa018a20-2c26-4d47-831f-75280b6464df 305efad7-ff5c-4c4a-8f59-2f5fd43710ec 2 20101597 20101597 C T SNP TTC32 ENST00000333610 human ensembl 69_37n -1 known missense c.19 p.E7K 0.000 NULL pfam_TPR-1,pfam_TPR_2,pfam_TPR-4,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC32 HGNC ENSG00000183891 74 0 0.00 82 35 29.91 - - - TXNDC12 0 genome.wustl.edu 37 1 52494264 52494264 + Missense_Mutation SNP C C T TCGA-A8-A07E-01A-11W-A050-09 TCGA-A8-A07E-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa018a20-2c26-4d47-831f-75280b6464df 305efad7-ff5c-4c4a-8f59-2f5fd43710ec 1 52494264 52494264 C T SNP TXNDC12 ENST00000371626 human ensembl 69_37n -1 known missense c.197 p.C66Y 1.000 pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors TXNDC12 HGNC ENSG00000117862 90 0 0.00 108 20 15.62 - - - VWA7 0 genome.wustl.edu 37 6 31741189 31741189 + Silent SNP A A G TCGA-A8-A07E-01A-11W-A050-09 TCGA-A8-A07E-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa018a20-2c26-4d47-831f-75280b6464df 305efad7-ff5c-4c4a-8f59-2f5fd43710ec 6 31741189 31741189 A G SNP VWA7 ENST00000375686 human ensembl 69_37n -1 known silent c.747 p.F249 0.989 NULL NULL - no_errors VWA7 HGNC ENSG00000204396 101 0 0.00 104 13 11.11 - - - XPA 0 genome.wustl.edu 37 9 100449457 100449457 + Missense_Mutation SNP T T G TCGA-A8-A07E-01A-11W-A050-09 TCGA-A8-A07E-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa018a20-2c26-4d47-831f-75280b6464df 305efad7-ff5c-4c4a-8f59-2f5fd43710ec 9 100449457 100449457 T G SNP XPA ENST00000375128 human ensembl 69_37n -1 known missense c.476 p.E159A 1.000 pfam_XPA_C,superfamily_DNA-bd_dom_put,tigrfam_XPA pfam_XPA_C,pfam_Znf_XPA_CS,superfamily_DNA-bd_dom_put,tigrfam_XPA - no_errors XPA HGNC ENSG00000136936 129 0 0.00 198 22 10.00 - - - ZNF534 0 genome.wustl.edu 37 19 52942200 52942200 + Missense_Mutation SNP G G A TCGA-A8-A07E-01A-11W-A050-09 TCGA-A8-A07E-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa018a20-2c26-4d47-831f-75280b6464df 305efad7-ff5c-4c4a-8f59-2f5fd43710ec 19 52942200 52942200 G A SNP ZNF534 ENST00000332323 human ensembl 69_37n +1 known missense c.1526 p.C509Y 0.073 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 ZNF534 HGNC ENSG00000198633 109 0 0.00 296 41 12.17 - - - ZNF580 0 genome.wustl.edu 37 19 56153940 56153941 + Frame_Shift_Ins INS - - C TCGA-A8-A07E-01A-11W-A050-09 TCGA-A8-A07E-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa018a20-2c26-4d47-831f-75280b6464df 305efad7-ff5c-4c4a-8f59-2f5fd43710ec 19 56153940 56153941 - C INS ZNF580 ENST00000325333 human ensembl 69_37n +1 known frame_shift_ins c.66_67 p.K24fs 1.000:1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF580 HGNC ENSG00000213015 19 0 0.00 3 2 40.00 - - -