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 ACP5 0 genome.wustl.edu 37 19 11686061 11686061 + Missense_Mutation SNP G G C TCGA-AO-A0J6-01A-11W-A050-09 TCGA-AO-A0J6-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7d21a0c4-03c7-4641-8b4d-7a5877960360 2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d 19 11686061 11686061 G C SNP ACP5 ENST00000218758 human ensembl 69_37n -1 known missense c.742 p.Q248E 0.803 NULL pfam_Metallo_PEstase_dom - no_errors ACP5 HGNC ENSG00000102575 33 0 0.00 8 6 42.86 - - - AHNAK 0 genome.wustl.edu 37 11 62288240 62288240 + Missense_Mutation SNP C C G TCGA-AO-A0J6-01A-11W-A050-09 TCGA-AO-A0J6-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7d21a0c4-03c7-4641-8b4d-7a5877960360 2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d 11 62288240 62288240 C G SNP AHNAK ENST00000378024 human ensembl 69_37n -1 known missense c.13649 p.G4550A 0.066 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC ENSG00000124942 225 0 0.00 47 19 28.79 - - - ARHGEF6 0 genome.wustl.edu 37 X 135764932 135764932 + Missense_Mutation SNP A A T TCGA-AO-A0J6-01A-11W-A050-09 TCGA-AO-A0J6-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7d21a0c4-03c7-4641-8b4d-7a5877960360 2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d X 135764932 135764932 A T SNP ARHGEF6 ENST00000250617 human ensembl 69_37n -1 known missense c.1464 p.S488R 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,pfam_SH3_2,pfam_SH3_domain,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_SM22_calponin - no_errors ARHGEF6 HGNC ENSG00000129675 347 0 0.00 86 113 56.50 - - - ARL11 0 genome.wustl.edu 37 13 50204809 50204809 + Missense_Mutation SNP G G A TCGA-AO-A0J6-01A-11W-A050-09 TCGA-AO-A0J6-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7d21a0c4-03c7-4641-8b4d-7a5877960360 2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d 13 50204809 50204809 G A SNP ARL11 ENST00000282026 human ensembl 69_37n +1 known missense c.226 p.D76N 1.000 pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Small_GTPase,pfam_Gtr1_RagA,pfam_MIRO-like,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,prints_Small_GTPase_ARF/SAR,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Small_GTPase,pfam_Gtr1_RagA,pfam_MIRO-like,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,prints_Small_GTPase_ARF/SAR,tigrfam_Small_GTP-bd_dom - no_errors ARL11 HGNC ENSG00000152213 38 0 0.00 10 14 58.33 - - - ATHL1 0 genome.wustl.edu 37 11 290714 290715 + Frame_Shift_Ins INS - - G TCGA-AO-A0J6-01A-11W-A050-09 TCGA-AO-A0J6-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7d21a0c4-03c7-4641-8b4d-7a5877960360 2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d 11 290714 290715 - G INS ATHL1 ENST00000409548 human ensembl 69_37n +1 known frame_shift_ins c.507_508 p.P171fs 0.850:0.999 NULL pfam_Glyco_hydro_65_M,superfamily_6-hairpin_glycosidase-like - no_errors ATHL1 HGNC ENSG00000142102 25 0 0.00 13 3 18.75 - - - ATP1A3 0 genome.wustl.edu 37 19 42482310 42482310 + Missense_Mutation SNP C C T TCGA-AO-A0J6-01A-11W-A050-09 TCGA-AO-A0J6-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7d21a0c4-03c7-4641-8b4d-7a5877960360 2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d 19 42482310 42482310 C T SNP ATP1A3 ENST00000545399 human ensembl 69_37n -1 known missense c.1838 p.G613D 1.000 pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_cation-ex_asu_euk pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_cation-exchng_asu,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP1A3 HGNC ENSG00000105409 292 0 0.00 159 89 35.89 - - - BCL9 0 genome.wustl.edu 37 1 147092484 147092487 + Frame_Shift_Del DEL GGGG GGGG - TCGA-AO-A0J6-01A-11W-A050-09 TCGA-AO-A0J6-10A-01W-A055-09 GGGG GGGG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7d21a0c4-03c7-4641-8b4d-7a5877960360 2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d 1 147092484 147092487 GGGG - DEL BCL9 ENST00000234739 human ensembl 69_37n +1 known frame_shift_del c.2523_2526 p.R843fs 1.000:1.000:1.000:0.967 NULL pfam_BCL9_beta-catenin-bd_dom - no_errors BCL9 HGNC ENSG00000116128 209 0 0.00 158 55 25.35 - - - BCL9 0 genome.wustl.edu 37 1 147092488 147092488 + Missense_Mutation SNP C C T TCGA-AO-A0J6-01A-11W-A050-09 TCGA-AO-A0J6-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7d21a0c4-03c7-4641-8b4d-7a5877960360 2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d 1 147092488 147092488 C T SNP BCL9 ENST00000234739 human ensembl 69_37n +1 known missense c.2527 p.R843W 1.000 NULL pfam_BCL9_beta-catenin-bd_dom - no_errors BCL9 HGNC ENSG00000116128 208 0 0.00 152 58 27.62 - - - BPIFA2 0 genome.wustl.edu 37 20 31757009 31757009 + Missense_Mutation SNP T T C TCGA-AO-A0J6-01A-11W-A050-09 TCGA-AO-A0J6-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7d21a0c4-03c7-4641-8b4d-7a5877960360 2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d 20 31757009 31757009 T C SNP BPIFA2 ENST00000253362 human ensembl 69_37n +1 known missense c.58 p.S20P 0.000 NULL pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom - no_errors BPIFA2 HGNC ENSG00000131050 128 0 0.00 73 10 12.05 - - - C12orf55 0 genome.wustl.edu 37 12 97043730 97043733 + Frame_Shift_Del DEL ACAA ACAA - TCGA-AO-A0J6-01A-11W-A050-09 TCGA-AO-A0J6-10A-01W-A055-09 ACAA ACAA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7d21a0c4-03c7-4641-8b4d-7a5877960360 2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d 12 97043730 97043733 ACAA - DEL C12orf55 ENST00000342887 human ensembl 69_37n +1 known frame_shift_del c.27_30 p.T11fs 0.000:0.000:0.000:0.000 NULL NULL - no_errors C12orf55 HGNC ENSG00000188596 270 0 0.00 85 64 42.95 - - - C1orf54 0 genome.wustl.edu 37 1 150246528 150246528 + Missense_Mutation SNP G G A TCGA-AO-A0J6-01A-11W-A050-09 TCGA-AO-A0J6-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7d21a0c4-03c7-4641-8b4d-7a5877960360 2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d 1 150246528 150246528 G A SNP C1orf54 ENST00000369099 human ensembl 69_37n +1 known missense c.85 p.E29K 0.024 NULL NULL - no_errors C1orf54 HGNC ENSG00000118292 163 0 0.00 106 29 21.48 - - - C20orf26 0 genome.wustl.edu 37 20 20232263 20232263 + Silent SNP T T C TCGA-AO-A0J6-01A-11W-A050-09 TCGA-AO-A0J6-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7d21a0c4-03c7-4641-8b4d-7a5877960360 2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d 20 20232263 20232263 T C SNP C20orf26 ENST00000245957 human ensembl 69_37n +1 known silent c.2184 p.Y728 0.997 NULL superfamily_Acyl_CoA_acyltransferase - no_errors C20orf26 HGNC ENSG00000089101 140 0 0.00 50 36 41.86 - - - C20orf85 0 genome.wustl.edu 37 20 56735726 56735727 + Frame_Shift_Ins INS - - C TCGA-AO-A0J6-01A-11W-A050-09 TCGA-AO-A0J6-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7d21a0c4-03c7-4641-8b4d-7a5877960360 2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d 20 56735726 56735727 - C INS C20orf85 ENST00000371168 human ensembl 69_37n +1 known frame_shift_ins c.262_263 p.V91fs 0.675:0.687 NULL NULL - no_errors C20orf85 HGNC ENSG00000124237 49 0 0.00 34 4 10.53 - - - C7orf62 0 genome.wustl.edu 37 7 88424032 88424032 + Silent SNP T T A TCGA-AO-A0J6-01A-11W-A050-09 TCGA-AO-A0J6-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7d21a0c4-03c7-4641-8b4d-7a5877960360 2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d 7 88424032 88424032 T A SNP C7orf62 ENST00000297203 human ensembl 69_37n -1 known silent c.225 p.S75 0.000 NULL NULL - no_errors C7orf62 HGNC ENSG00000164645 402 0 0.00 140 70 33.33 - - - C9orf43 0 genome.wustl.edu 37 9 116191234 116191234 + Missense_Mutation SNP A A C TCGA-AO-A0J6-01A-11W-A050-09 TCGA-AO-A0J6-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7d21a0c4-03c7-4641-8b4d-7a5877960360 2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d 9 116191234 116191234 A C SNP C9orf43 ENST00000288462 human ensembl 69_37n +1 known missense c.1162 p.S388R 0.000 NULL NULL - no_errors C9orf43 HGNC ENSG00000157653 316 0 0.00 103 53 33.76 - - - CECR1 0 genome.wustl.edu 37 22 17690423 17690424 + Frame_Shift_Ins INS - - C TCGA-AO-A0J6-01A-11W-A050-09 TCGA-AO-A0J6-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7d21a0c4-03c7-4641-8b4d-7a5877960360 2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d 22 17690423 17690424 - C INS CECR1 ENST00000262607 human ensembl 69_37n -1 known frame_shift_ins c.145_144 p.R48fs 0.036:0.052 pfam_A_deaminase_N,tigrfam_Ad_deam-like pfam_A/AMP_deaminase_dom,pfam_A_deaminase_N,tigrfam_Ad_deam-like - no_errors CECR1 HGNC ENSG00000093072 70 0 0.00 41 5 10.87 - - - CES5A 0 genome.wustl.edu 37 16 55903634 55903634 + Missense_Mutation SNP C C T TCGA-AO-A0J6-01A-11W-A050-09 TCGA-AO-A0J6-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7d21a0c4-03c7-4641-8b4d-7a5877960360 2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d 16 55903634 55903634 C T SNP CES5A ENST00000521992 human ensembl 69_37n -1 known missense c.527 p.G176D 1.000 pfam_CarbesteraseB,pfam_AB_hydrolase_3 pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CES5A HGNC ENSG00000159398 127 0 0.00 95 39 29.10 - - - CHRM1 0 genome.wustl.edu 37 11 62678402 62678402 + Missense_Mutation SNP C C A TCGA-AO-A0J6-01A-11W-A050-09 TCGA-AO-A0J6-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7d21a0c4-03c7-4641-8b4d-7a5877960360 2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d 11 62678402 62678402 C A SNP CHRM1 ENST00000306960 human ensembl 69_37n -1 known missense c.171 p.K57N 1.000 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Musac_M1_rcpt,prints_Musac_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors CHRM1 HGNC ENSG00000168539 365 1 0.27 138 71 33.97 - - - CHRNA1 0 genome.wustl.edu 37 2 175618463 175618463 + Silent SNP G G A TCGA-AO-A0J6-01A-11W-A050-09 TCGA-AO-A0J6-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7d21a0c4-03c7-4641-8b4d-7a5877960360 2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d 2 175618463 175618463 G A SNP CHRNA1 ENST00000261007 human ensembl 69_37n -1 known silent c.621 p.S207 0.323 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel - no_errors CHRNA1 HGNC ENSG00000138435 226 0 0.00 79 58 42.34 - - - CLUL1 0 genome.wustl.edu 37 18 618071 618071 + Missense_Mutation SNP G G C TCGA-AO-A0J6-01A-11W-A050-09 TCGA-AO-A0J6-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7d21a0c4-03c7-4641-8b4d-7a5877960360 2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d 18 618071 618071 G C SNP CLUL1 ENST00000338387 human ensembl 69_37n +1 known missense c.71 p.W24S 0.982 pfam_Clusterin-like pfam_Clusterin-like,smart_Clusterin_N,smart_Clusterin_C - no_errors CLUL1 HGNC ENSG00000079101 280 0 0.00 204 83 28.92 - - - CNTLN 0 genome.wustl.edu 37 9 17409379 17409379 + Missense_Mutation SNP G G C TCGA-AO-A0J6-01A-11W-A050-09 TCGA-AO-A0J6-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7d21a0c4-03c7-4641-8b4d-7a5877960360 2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d 9 17409379 17409379 G C SNP CNTLN ENST00000380647 human ensembl 69_37n +1 known missense c.2704 p.D902H 0.945 NULL superfamily_Prefoldin - no_errors CNTLN HGNC ENSG00000044459 178 0 0.00 39 87 69.05 - - - COL19A1 0 genome.wustl.edu 37 6 70610189 70610189 + Silent SNP C C G TCGA-AO-A0J6-01A-11W-A050-09 TCGA-AO-A0J6-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7d21a0c4-03c7-4641-8b4d-7a5877960360 2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d 6 70610189 70610189 C G SNP COL19A1 ENST00000322773 human ensembl 69_37n +1 known silent c.225 p.T75 0.962 superfamily_ConA-like_lec_gl,smart_Laminin_G pfam_Collagen,superfamily_ConA-like_lec_gl,smart_Laminin_G - no_errors COL19A1 HGNC ENSG00000082293 205 0 0.00 25 7 21.88 - - - COX15 0 genome.wustl.edu 37 10 101483877 101483877 + Missense_Mutation SNP G G C TCGA-AO-A0J6-01A-11W-A050-09 TCGA-AO-A0J6-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7d21a0c4-03c7-4641-8b4d-7a5877960360 2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d 10 101483877 101483877 G C SNP COX15 ENST00000016171 human ensembl 69_37n -1 known missense c.586 p.L196V 1.000 pfam_HemeA_syn pfam_HemeA_syn,superfamily_Pept_cys/ser_Trypsin-like - no_errors COX15 HGNC ENSG00000014919 243 0 0.00 125 39 23.64 - - - CYP2D6 0 genome.wustl.edu 37 22 42525144 42525145 + Frame_Shift_Ins INS - - T TCGA-AO-A0J6-01A-11W-A050-09 TCGA-AO-A0J6-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7d21a0c4-03c7-4641-8b4d-7a5877960360 2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d 22 42525144 42525145 - T INS CYP2D6 ENST00000360608 human ensembl 69_37n -1 known frame_shift_ins c.396_395 p.R133fs 0.995:1.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2D-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP2D6 HGNC ENSG00000100197 106 0 0.00 13 26 66.67 - - - DIO1 0 genome.wustl.edu 37 1 54371907 54371907 + Silent SNP G G A TCGA-AO-A0J6-01A-11W-A050-09 TCGA-AO-A0J6-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7d21a0c4-03c7-4641-8b4d-7a5877960360 2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d 1 54371907 54371907 G A SNP DIO1 ENST00000388876 human ensembl 69_37n +1 known silent c.477 p.Q159 0.095 pfam_Iodothyronine_deiodinase pfam_Iodothyronine_deiodinase - no_errors DIO1 HGNC ENSG00000211452 66 0 0.00 63 25 28.41 - - - DNAH9 0 genome.wustl.edu 37 17 11520810 11520810 + Silent SNP G G A TCGA-AO-A0J6-01A-11W-A050-09 TCGA-AO-A0J6-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7d21a0c4-03c7-4641-8b4d-7a5877960360 2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d 17 11520810 11520810 G A SNP DNAH9 ENST00000262442 human ensembl 69_37n +1 known silent c.987 p.P329 0.000 pfam_Dynein_heavy_dom-1 pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH9 HGNC ENSG00000007174 68 0 0.00 22 36 62.07 - - - DSEL 0 genome.wustl.edu 37 18 65178887 65178887 + Frame_Shift_Del DEL C C - TCGA-AO-A0J6-01A-11W-A050-09 TCGA-AO-A0J6-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7d21a0c4-03c7-4641-8b4d-7a5877960360 2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d 18 65178887 65178887 C - DEL DSEL ENST00000310045 human ensembl 69_37n -1 known frame_shift_del c.2989 p.A997fs 1.000 pfam_Sulfotransferase_dom pfam_Sulfotransferase_dom,superfamily_Chondroitin_lyas - no_errors DSEL HGNC ENSG00000171451 64 0 0.00 11 2 15.38 - - - EIF2AK1 0 genome.wustl.edu 37 7 6077156 6077156 + Splice_Site SNP C C T TCGA-AO-A0J6-01A-11W-A050-09 TCGA-AO-A0J6-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7d21a0c4-03c7-4641-8b4d-7a5877960360 2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d 7 6077156 6077156 C T SNP EIF2AK1 ENST00000199389 human ensembl 69_37n -1 known splice_site c.1232-1 e11-1 1.000 - - - no_errors EIF2AK1 HGNC ENSG00000086232 160 0 0.00 61 26 29.89 - - - EMR1 0 genome.wustl.edu 37 19 6926403 6926403 + Missense_Mutation SNP C C A TCGA-AO-A0J6-01A-11W-A050-09 TCGA-AO-A0J6-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7d21a0c4-03c7-4641-8b4d-7a5877960360 2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d 19 6926403 6926403 C A SNP EMR1 ENST00000312053 human ensembl 69_37n +1 known missense c.2013 p.F671L 0.083 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd,pfam_GPS_dom,smart_EGF-like_Ca-bd,smart_EGF-like,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_EMR1_rcpt,prints_GPCR_2_secretin-like - no_errors EMR1 HGNC ENSG00000174837 543 0 0.00 263 173 39.68 - - - EPS8L1 0 genome.wustl.edu 37 19 55598949 55598949 + Missense_Mutation SNP G G C TCGA-AO-A0J6-01A-11W-A050-09 TCGA-AO-A0J6-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7d21a0c4-03c7-4641-8b4d-7a5877960360 2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d 19 55598949 55598949 G C SNP EPS8L1 ENST00000201647 human ensembl 69_37n +1 known missense c.2139 p.K713N 1.000 NULL pfam_PTB,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_SAM/pointed,smart_PTyr_interaction_dom,smart_SH3_domain,pfscan_SH3_domain - no_errors EPS8L1 HGNC ENSG00000131037 750 1 0.13 340 99 22.55 - - - FAM157B 0 genome.wustl.edu 37 9 141107536 141107537 + RNA INS - - GCA TCGA-AO-A0J6-01A-11W-A050-09 TCGA-AO-A0J6-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7d21a0c4-03c7-4641-8b4d-7a5877960360 2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d 9 141107536 141107537 - GCA INS FAM157B ENST00000446912 human ensembl 69_37n +1 known rna NULL NULL 0.033:0.036 - - - no_errors FAM157B HGNC ENSG00000233013 94 0 0.00 43 10 18.87 - - - FAM53B 0 genome.wustl.edu 37 10 126370497 126370497 + Nonsense_Mutation SNP G G T TCGA-AO-A0J6-01A-11W-A050-09 TCGA-AO-A0J6-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7d21a0c4-03c7-4641-8b4d-7a5877960360 2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d 10 126370497 126370497 G T SNP FAM53B ENST00000337318 human ensembl 69_37n -1 known nonsense c.585 p.C195* 0.996 NULL NULL - no_errors FAM53B HGNC ENSG00000189319 46 0 0.00 19 9 32.14 - - - FAM5C 0 genome.wustl.edu 37 1 190068109 190068109 + Missense_Mutation SNP G G A TCGA-AO-A0J6-01A-11W-A050-09 TCGA-AO-A0J6-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7d21a0c4-03c7-4641-8b4d-7a5877960360 2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d 1 190068109 190068109 G A SNP FAM5C ENST00000367462 human ensembl 69_37n -1 known missense c.1340 p.S447F 0.143 NULL pfam_MACPF,smart_MACPF - no_errors FAM5C HGNC ENSG00000162670 58 0 0.00 33 13 28.26 - - - FAM90A1 0 genome.wustl.edu 37 12 8376138 8376138 + Missense_Mutation SNP C C A TCGA-AO-A0J6-01A-11W-A050-09 TCGA-AO-A0J6-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7d21a0c4-03c7-4641-8b4d-7a5877960360 2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d 12 8376138 8376138 C A SNP FAM90A1 ENST00000307435 human ensembl 69_37n -1 known missense c.339 p.Q113H 0.000 NULL NULL - no_errors FAM90A1 HGNC ENSG00000171847 66 0 0.00 18 15 45.45 - - - FBXO21 0 genome.wustl.edu 37 12 117604733 117604733 + Missense_Mutation SNP A A G TCGA-AO-A0J6-01A-11W-A050-09 TCGA-AO-A0J6-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7d21a0c4-03c7-4641-8b4d-7a5877960360 2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d 12 117604733 117604733 A G SNP FBXO21 ENST00000330622 human ensembl 69_37n -1 known missense c.1163 p.M388T 1.000 superfamily_F-box_dom_cyclin-like pfam_Hemimethylated_DNA-bd_dom,superfamily_Hemimethylated_DNA-bd_dom,superfamily_F-box_dom_cyclin-like,tigrfam_Hemimethylated_DNA-bd_dom - no_errors FBXO21 HGNC ENSG00000135108 360 0 0.00 107 49 31.41 - - - FRMD6 0 genome.wustl.edu 37 14 52186813 52186813 + Silent SNP G G C TCGA-AO-A0J6-01A-11W-A050-09 TCGA-AO-A0J6-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7d21a0c4-03c7-4641-8b4d-7a5877960360 2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d 14 52186813 52186813 G C SNP FRMD6 ENST00000344768 human ensembl 69_37n +1 known silent c.1065 p.L355 1.000 NULL pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain - no_errors FRMD6 HGNC ENSG00000139926 72 0 0.00 23 22 48.89 - - - FXR1 0 genome.wustl.edu 37 3 180675642 180675642 + Missense_Mutation SNP G G C TCGA-AO-A0J6-01A-11W-A050-09 TCGA-AO-A0J6-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7d21a0c4-03c7-4641-8b4d-7a5877960360 2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d 3 180675642 180675642 G C SNP FXR1 ENST00000357559 human ensembl 69_37n +1 known missense c.916 p.E306Q 1.000 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_Frag_X_MRP_fam,pfam_KH_dom_type_1,pfam_Agenet,superfamily_NA-bd_OB-fold-like,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors FXR1 HGNC ENSG00000114416 437 0 0.00 314 68 17.80 - - - GJB5 0 genome.wustl.edu 37 1 35223621 35223621 + Missense_Mutation SNP C C A TCGA-AO-A0J6-01A-11W-A050-09 TCGA-AO-A0J6-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7d21a0c4-03c7-4641-8b4d-7a5877960360 2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d 1 35223621 35223621 C A SNP GJB5 ENST00000338513 human ensembl 69_37n +1 known missense c.690 p.H230Q 0.000 NULL pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin311 - no_errors GJB5 HGNC ENSG00000189280 121 0 0.00 88 30 25.42 - - - GOLGA8J 0 genome.wustl.edu 37 15 30435851 30435851 + Missense_Mutation SNP G G A TCGA-AO-A0J6-01A-11W-A050-09 TCGA-AO-A0J6-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7d21a0c4-03c7-4641-8b4d-7a5877960360 2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d 15 30435851 30435851 G A SNP GOLGA8J ENST00000569052 human ensembl 69_37n +1 novel missense c.1243 p.A415T 0.955 NULL NULL - no_errors RP5-1086D14.3 Clone_based_vega_gene ENSG00000261247 20 0 0.00 7 5 41.67 - - - HIVEP3 0 genome.wustl.edu 37 1 42046159 42046159 + Missense_Mutation SNP C C A TCGA-AO-A0J6-01A-11W-A050-09 TCGA-AO-A0J6-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7d21a0c4-03c7-4641-8b4d-7a5877960360 2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d 1 42046159 42046159 C A SNP HIVEP3 ENST00000247584 human ensembl 69_37n -1 known missense c.4310 p.S1437I 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP3 HGNC ENSG00000127124 161 0 0.00 40 43 51.81 - - - IFNE 0 genome.wustl.edu 37 9 21481513 21481513 + Missense_Mutation SNP G G C TCGA-AO-A0J6-01A-11W-A050-09 TCGA-AO-A0J6-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7d21a0c4-03c7-4641-8b4d-7a5877960360 2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d 9 21481513 21481513 G C SNP IFNE ENST00000448696 human ensembl 69_37n -1 known missense c.181 p.L61V 0.004 pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta - no_errors IFNE HGNC ENSG00000184995 182 0 0.00 82 37 31.09 - - - IGKV1-5 0 genome.wustl.edu 37 2 89246827 89246827 + Missense_Mutation SNP T T G TCGA-AO-A0J6-01A-11W-A050-09 TCGA-AO-A0J6-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7d21a0c4-03c7-4641-8b4d-7a5877960360 2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d 2 89246827 89246827 T G SNP IGKV1-5 ENST00000496168 human ensembl 69_37n -1 known missense c.343 p.S115R 0.011 pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like - no_stop_codon IGKV1-5 HGNC ENSG00000243466 311 0 0.00 139 47 25.27 - - - INTS3 0 genome.wustl.edu 37 1 153734075 153734075 + Missense_Mutation SNP A A T TCGA-AO-A0J6-01A-11W-A050-09 TCGA-AO-A0J6-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7d21a0c4-03c7-4641-8b4d-7a5877960360 2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d 1 153734075 153734075 A T SNP INTS3 ENST00000318967 human ensembl 69_37n +1 known missense c.1439 p.K480M 1.000 pfam_Integrator_3 pfam_Integrator_3 - no_errors INTS3 HGNC ENSG00000143624 200 0 0.00 96 35 26.72 - - - KIAA1383 0 genome.wustl.edu 37 1 232942237 232942237 + Missense_Mutation SNP C C G TCGA-AO-A0J6-01A-11W-A050-09 TCGA-AO-A0J6-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7d21a0c4-03c7-4641-8b4d-7a5877960360 2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d 1 232942237 232942237 C G SNP KIAA1383 ENST00000418460 human ensembl 69_37n +1 known missense c.1468 p.H490D 0.000 NULL NULL - no_errors KIAA1383 HGNC ENSG00000212916 133 0 0.00 47 14 22.95 - - - KLHDC3 0 genome.wustl.edu 37 6 42986630 42986630 + Missense_Mutation SNP A A C TCGA-AO-A0J6-01A-11W-A050-09 TCGA-AO-A0J6-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7d21a0c4-03c7-4641-8b4d-7a5877960360 2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d 6 42986630 42986630 A C SNP KLHDC3 ENST00000326974 human ensembl 69_37n +1 known missense c.850 p.K284Q 1.000 NULL pfam_Kelch_2,pfam_Kelch_1 - no_errors KLHDC3 HGNC ENSG00000124702 113 0 0.00 46 12 20.69 - - - KRT19 0 genome.wustl.edu 37 17 39680125 39680125 + Missense_Mutation SNP C C T TCGA-AO-A0J6-01A-11W-A050-09 TCGA-AO-A0J6-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7d21a0c4-03c7-4641-8b4d-7a5877960360 2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d 17 39680125 39680125 C T SNP KRT19 ENST00000361566 human ensembl 69_37n -1 known missense c.1073 p.R358Q 1.000 pfam_F pfam_F,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT19 HGNC ENSG00000171345 53 0 0.00 19 6 24.00 - - - KRT4 0 genome.wustl.edu 37 12 53208015 53208015 + Missense_Mutation SNP T T C TCGA-AO-A0J6-01A-11W-A050-09 TCGA-AO-A0J6-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7d21a0c4-03c7-4641-8b4d-7a5877960360 2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d 12 53208015 53208015 T C SNP KRT4 ENST00000293774 human ensembl 69_37n -1 known missense c.50 p.D17G 0.996 NULL pfam_F,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I - no_errors KRT4 HGNC ENSG00000170477 71 0 0.00 19 17 47.22 - - - LAMA2 0 genome.wustl.edu 37 6 129824389 129824389 + Missense_Mutation SNP G G C TCGA-AO-A0J6-01A-11W-A050-09 TCGA-AO-A0J6-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7d21a0c4-03c7-4641-8b4d-7a5877960360 2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d 6 129824389 129824389 G C SNP LAMA2 ENST00000421865 human ensembl 69_37n +1 known missense c.8511 p.M2837I 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA2 HGNC ENSG00000196569 121 0 0.00 62 51 45.13 - - - LOC100996465 0 genome.wustl.edu 37 X 153149672 153149672 + Missense_Mutation SNP G G T TCGA-AO-A0J6-01A-11W-A050-09 TCGA-AO-A0J6-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7d21a0c4-03c7-4641-8b4d-7a5877960360 2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d X 153149672 153149672 G T SNP LOC100996465 ENST00000452593 human ensembl 69_37n +1 putative missense c.503 p.W168L 0.000 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region U52112.12 Clone_based_vega_gene ENSG00000196987 77 0 0.00 28 21 42.86 - - - LRP1B 0 genome.wustl.edu 37 2 141528484 141528484 + Silent SNP T T C TCGA-AO-A0J6-01A-11W-A050-09 TCGA-AO-A0J6-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7d21a0c4-03c7-4641-8b4d-7a5877960360 2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d 2 141528484 141528484 T C SNP LRP1B ENST00000389484 human ensembl 69_37n -1 known silent c.5592 p.G1864 0.987 smart_EGF-like pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_dom,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP1B HGNC ENSG00000168702 185 0 0.00 17 21 55.26 - - - LRRC4B 0 genome.wustl.edu 37 19 51021546 51021546 + Missense_Mutation SNP C C A TCGA-AO-A0J6-01A-11W-A050-09 TCGA-AO-A0J6-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7d21a0c4-03c7-4641-8b4d-7a5877960360 2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d 19 51021546 51021546 C A SNP LRRC4B ENST00000389201 human ensembl 69_37n -1 known missense c.1424 p.G475V 0.001 NULL pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LRRC4B HGNC ENSG00000131409 20 0 0.00 5 10 66.67 - - - LTBP4 0 genome.wustl.edu 37 19 41133242 41133242 + Nonsense_Mutation SNP G G T TCGA-AO-A0J6-01A-11W-A050-09 TCGA-AO-A0J6-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7d21a0c4-03c7-4641-8b4d-7a5877960360 2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d 19 41133242 41133242 G T SNP LTBP4 ENST00000308370 human ensembl 69_37n +1 known nonsense c.4546 p.E1516* 0.043 NULL pfam_EGF-like_Ca-bd,pfam_TB_dom,superfamily_TB_dom,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom - no_errors LTBP4 HGNC ENSG00000090006 27 0 0.00 14 6 30.00 - - - MED16 0 genome.wustl.edu 37 19 884973 884973 + Missense_Mutation SNP G G C TCGA-AO-A0J6-01A-11W-A050-09 TCGA-AO-A0J6-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7d21a0c4-03c7-4641-8b4d-7a5877960360 2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d 19 884973 884973 G C SNP MED16 ENST00000325464 human ensembl 69_37n -1 known missense c.915 p.I305M 0.384 pfam_Mediator_Med16,superfamily_WD40_repeat_dom pfam_Mediator_Med16,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors MED16 HGNC ENSG00000175221 8 0 0.00 7 6 46.15 - - - MPHOSPH9 0 genome.wustl.edu 37 12 123703035 123703035 + Missense_Mutation SNP G G A TCGA-AO-A0J6-01A-11W-A050-09 TCGA-AO-A0J6-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7d21a0c4-03c7-4641-8b4d-7a5877960360 2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d 12 123703035 123703035 G A SNP MPHOSPH9 ENST00000541076 human ensembl 69_37n -1 known missense c.428 p.T143I 1.000 NULL superfamily_Prefoldin - no_errors MPHOSPH9 HGNC ENSG00000051825 288 0 0.00 62 108 63.53 - - - MRPL48 0 genome.wustl.edu 37 11 73574260 73574260 + Missense_Mutation SNP T T A TCGA-AO-A0J6-01A-11W-A050-09 TCGA-AO-A0J6-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7d21a0c4-03c7-4641-8b4d-7a5877960360 2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d 11 73574260 73574260 T A SNP MRPL48 ENST00000310614 human ensembl 69_37n +1 known missense c.518 p.I173K 1.000 pfam_Ribosomal_S10,superfamily_Ribosomal_S10 pfam_Ribosomal_S10,superfamily_Ribosomal_S10 - no_errors MRPL48 HGNC ENSG00000175581 167 0 0.00 30 60 65.93 - - - MYO10 0 genome.wustl.edu 37 5 16818206 16818206 + Missense_Mutation SNP C C T TCGA-AO-A0J6-01A-11W-A050-09 TCGA-AO-A0J6-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7d21a0c4-03c7-4641-8b4d-7a5877960360 2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d 5 16818206 16818206 C T SNP MYO10 ENST00000513610 human ensembl 69_37n -1 known missense c.191 p.G64D 0.999 smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_Pleckstrin_homology,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_Ras-assoc,superfamily_FERM_central,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology,prints_Myosin_head_motor_dom - no_errors MYO10 HGNC ENSG00000145555 156 0 0.00 47 39 45.35 - - - NAP1L1 0 genome.wustl.edu 37 12 76453633 76453633 + Missense_Mutation SNP T T A TCGA-AO-A0J6-01A-11W-A050-09 TCGA-AO-A0J6-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7d21a0c4-03c7-4641-8b4d-7a5877960360 2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d 12 76453633 76453633 T A SNP NAP1L1 ENST00000261182 human ensembl 69_37n -1 known missense c.374 p.Y125F 1.000 pfam_NAP_family pfam_NAP_family - no_errors NAP1L1 HGNC ENSG00000187109 208 0 0.00 79 15 15.96 - - - NGLY1 0 genome.wustl.edu 37 3 25761640 25761640 + Missense_Mutation SNP A A G TCGA-AO-A0J6-01A-11W-A050-09 TCGA-AO-A0J6-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7d21a0c4-03c7-4641-8b4d-7a5877960360 2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d 3 25761640 25761640 A G SNP NGLY1 ENST00000280700 human ensembl 69_37n -1 known missense c.1654 p.S552P 1.000 pfam_Peptide_N_glycanase_PAW_dom,superfamily_Galactose-bd-like,smart_Peptide_N_glycanase_PAW_dom pfam_PUB_domain,pfam_Transglutaminase-like,pfam_Rad4/PNGase_transGLS-fold,pfam_Peptide_N_glycanase_PAW_dom,superfamily_Galactose-bd-like,smart_PUG-dom,smart_Transglutaminase-like,smart_Peptide_N_glycanase_PAW_dom - no_errors NGLY1 HGNC ENSG00000151092 241 0 0.00 118 59 33.33 - - - NID1 0 genome.wustl.edu 37 1 236205393 236205393 + Missense_Mutation SNP G G C TCGA-AO-A0J6-01A-11W-A050-09 TCGA-AO-A0J6-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7d21a0c4-03c7-4641-8b4d-7a5877960360 2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d 1 236205393 236205393 G C SNP NID1 ENST00000264187 human ensembl 69_37n -1 known missense c.952 p.L318V 0.000 NULL pfam_G2_nidogen/fibulin_G2F,pfam_LDLR_classB_rpt,pfam_Nidogen_extracell_dom,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd,superfamily_Green_fluorescent_prot-like,superfamily_Thyroglobulin_1,smart_Nidogen_extracell_dom,smart_EGF-like_Ca-bd,smart_EGF-like,smart_G2_nidogen/fibulin_G2F,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1 - no_errors NID1 HGNC ENSG00000116962 71 0 0.00 40 14 25.93 - - - NR1D2 0 genome.wustl.edu 37 3 24018854 24018854 + Nonsense_Mutation SNP C C T TCGA-AO-A0J6-01A-11W-A050-09 TCGA-AO-A0J6-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7d21a0c4-03c7-4641-8b4d-7a5877960360 2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d 3 24018854 24018854 C T SNP NR1D2 ENST00000312521 human ensembl 69_37n +1 known nonsense c.1684 p.R562* 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors NR1D2 HGNC ENSG00000174738 195 0 0.00 26 51 66.23 - - - NR4A3 0 genome.wustl.edu 37 9 102590381 102590381 + Silent SNP G G A TCGA-AO-A0J6-01A-11W-A050-09 TCGA-AO-A0J6-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7d21a0c4-03c7-4641-8b4d-7a5877960360 2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d 9 102590381 102590381 G A SNP NR4A3 ENST00000330847 human ensembl 69_37n +1 known silent c.90 p.A30 0.419 NULL pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_NOR1_rcpt,prints_Nuc_orph_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt - no_errors NR4A3 HGNC ENSG00000119508 104 0 0.00 56 29 34.12 - - - NSUN4 0 genome.wustl.edu 37 1 46818635 46818635 + Missense_Mutation SNP C C G TCGA-AO-A0J6-01A-11W-A050-09 TCGA-AO-A0J6-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7d21a0c4-03c7-4641-8b4d-7a5877960360 2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d 1 46818635 46818635 C G SNP NSUN4 ENST00000474844 human ensembl 69_37n +1 known missense c.688 p.Q230E 0.002 pfam_Fmu/NOL1/Nop2p pfam_Fmu/NOL1/Nop2p,prints_RCMT - no_errors NSUN4 HGNC ENSG00000117481 379 0 0.00 229 85 26.98 - - - NXF3 0 genome.wustl.edu 37 X 102332671 102332671 + Missense_Mutation SNP C C T TCGA-AO-A0J6-01A-11W-A050-09 TCGA-AO-A0J6-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7d21a0c4-03c7-4641-8b4d-7a5877960360 2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d X 102332671 102332671 C T SNP NXF3 ENST00000427570 human ensembl 69_37n -1 known missense c.1073 p.C358Y 0.200 NULL pfam_Tap_RNA-bd,pfam_NTF2,pfscan_Nuclear_transport_factor_2_euk - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region NXF3 HGNC ENSG00000147206 105 0 0.00 26 31 54.39 - - - OBSCN 0 genome.wustl.edu 37 1 228467646 228467646 + Missense_Mutation SNP C C G TCGA-AO-A0J6-01A-11W-A050-09 TCGA-AO-A0J6-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7d21a0c4-03c7-4641-8b4d-7a5877960360 2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d 1 228467646 228467646 C G SNP OBSCN ENST00000366706 human ensembl 69_37n +1 novel missense c.794 p.P265R 0.004 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - pseudogene:no_stop_codon:bad_bp_length_for_coding_region OBSCN HGNC ENSG00000154358 52 0 0.00 20 6 23.08 - - - OR10H4 0 genome.wustl.edu 37 19 16060433 16060433 + Missense_Mutation SNP G G A TCGA-AO-A0J6-01A-11W-A050-09 TCGA-AO-A0J6-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7d21a0c4-03c7-4641-8b4d-7a5877960360 2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d 19 16060433 16060433 G A SNP OR10H4 ENST00000322107 human ensembl 69_37n +1 known missense c.616 p.V206I 0.002 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR10H4 HGNC ENSG00000176231 585 0 0.00 414 184 30.67 - - - OR51B4 0 genome.wustl.edu 37 11 5322935 5322935 + Missense_Mutation SNP C C A TCGA-AO-A0J6-01A-11W-A050-09 TCGA-AO-A0J6-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7d21a0c4-03c7-4641-8b4d-7a5877960360 2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d 11 5322935 5322935 C A SNP OR51B4 ENST00000380224 human ensembl 69_37n -1 known missense c.242 p.G81V 0.008 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR51B4 HGNC ENSG00000183251 312 0 0.00 172 86 33.33 - - - OR52A5 0 genome.wustl.edu 37 11 5153708 5153708 + Missense_Mutation SNP G G C TCGA-AO-A0J6-01A-11W-A050-09 TCGA-AO-A0J6-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7d21a0c4-03c7-4641-8b4d-7a5877960360 2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d 11 5153708 5153708 G C SNP OR52A5 ENST00000307388 human ensembl 69_37n -1 known missense c.165 p.N55K 0.000 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR52A5 HGNC ENSG00000171944 127 0 0.00 45 30 40.00 - - - OR5H15 0 genome.wustl.edu 37 3 97887843 97887844 + Frame_Shift_Ins INS - - T TCGA-AO-A0J6-01A-11W-A050-09 TCGA-AO-A0J6-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7d21a0c4-03c7-4641-8b4d-7a5877960360 2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d 3 97887843 97887844 - T INS OR5H15 ENST00000356526 human ensembl 69_37n +1 known frame_shift_ins c.300_301 p.S102fs 0.003:0.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR5H15 HGNC ENSG00000233412 374 0 0.00 207 54 20.69 - - - PI16 0 genome.wustl.edu 37 6 36931628 36931628 + Missense_Mutation SNP G G C TCGA-AO-A0J6-01A-11W-A050-09 TCGA-AO-A0J6-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7d21a0c4-03c7-4641-8b4d-7a5877960360 2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d 6 36931628 36931628 G C SNP PI16 ENST00000373674 human ensembl 69_37n +1 known missense c.1300 p.V434L 0.000 NULL pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1 - no_errors PI16 HGNC ENSG00000164530 137 0 0.00 44 19 30.16 - - - PIK3C2B 0 genome.wustl.edu 37 1 204403609 204403609 + Missense_Mutation SNP C C T TCGA-AO-A0J6-01A-11W-A050-09 TCGA-AO-A0J6-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7d21a0c4-03c7-4641-8b4d-7a5877960360 2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d 1 204403609 204403609 C T SNP PIK3C2B ENST00000367187 human ensembl 69_37n -1 known missense c.3644 p.G1215D 1.000 pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,pfam_Phox,pfam_C2_Ca-dep,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Phox,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C2B HGNC ENSG00000133056 177 0 0.00 79 40 33.61 - - - PLK4 0 genome.wustl.edu 37 4 128804612 128804612 + Missense_Mutation SNP G G C TCGA-AO-A0J6-01A-11W-A050-09 TCGA-AO-A0J6-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7d21a0c4-03c7-4641-8b4d-7a5877960360 2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d 4 128804612 128804612 G C SNP PLK4 ENST00000270861 human ensembl 69_37n +1 known missense c.241 p.D81H 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_POLO_box_duplicated_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_POLO_box_duplicated_dom,pfscan_Prot_kinase_cat_dom - no_errors PLK4 HGNC ENSG00000142731 147 0 0.00 15 7 31.82 - - - POTEJ 0 genome.wustl.edu 37 2 131414398 131414399 + Frame_Shift_Ins INS - - C TCGA-AO-A0J6-01A-11W-A050-09 TCGA-AO-A0J6-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7d21a0c4-03c7-4641-8b4d-7a5877960360 2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d 2 131414398 131414399 - C INS POTEJ ENST00000409602 human ensembl 69_37n +1 novel frame_shift_ins c.2065_2066 p.R691fs 1.000:1.000 pfam_Actin-like,smart_Actin-like,prints_Actin-like pfam_Actin-like,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-like - no_errors POTEJ HGNC ENSG00000222038 30 0 0.00 16 2 11.11 - - - PRKCB 0 genome.wustl.edu 37 16 24183606 24183606 + Missense_Mutation SNP G G T TCGA-AO-A0J6-01A-11W-A050-09 TCGA-AO-A0J6-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7d21a0c4-03c7-4641-8b4d-7a5877960360 2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d 16 24183606 24183606 G T SNP PRKCB ENST00000303531 human ensembl 69_37n +1 known missense c.1255 p.V419L 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Protein_kinase_C_a/b/g,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_Ca-dep,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_Ca-dep,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,prints_DAG/PE-bd,prints_C2_dom,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom - no_errors PRKCB HGNC ENSG00000166501 355 2 0.56 195 80 29.09 - - - PTPN18 0 genome.wustl.edu 37 2 131128528 131128530 + In_Frame_Del DEL CAT CAT - TCGA-AO-A0J6-01A-11W-A050-09 TCGA-AO-A0J6-10A-01W-A055-09 CAT CAT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7d21a0c4-03c7-4641-8b4d-7a5877960360 2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d 2 131128528 131128530 CAT - DEL PTPN18 ENST00000175756 human ensembl 69_37n +1 known in_frame_del c.915_917 p.I306in_frame_del 0.996:0.995:1.000 NULL pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN18 HGNC ENSG00000072135 126 0 0.00 44 27 36.99 - - - PVRL2 0 genome.wustl.edu 37 19 45368575 45368575 + Missense_Mutation SNP C C G TCGA-AO-A0J6-01A-11W-A050-09 TCGA-AO-A0J6-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7d21a0c4-03c7-4641-8b4d-7a5877960360 2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d 19 45368575 45368575 C G SNP PVRL2 ENST00000252483 human ensembl 69_37n +1 known missense c.136 p.L46V 0.353 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like pfam_CD80_C2-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors PVRL2 HGNC ENSG00000130202 67 0 0.00 37 15 28.85 - - - RANBP17 0 genome.wustl.edu 37 5 170597134 170597134 + Missense_Mutation SNP G G T TCGA-AO-A0J6-01A-11W-A050-09 TCGA-AO-A0J6-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7d21a0c4-03c7-4641-8b4d-7a5877960360 2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d 5 170597134 170597134 G T SNP RANBP17 ENST00000523189 human ensembl 69_37n +1 known missense c.1711 p.V571L 1.000 superfamily_ARM-type_fold pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N - no_errors RANBP17 HGNC ENSG00000204764 713 1 0.14 113 31 21.53 - - - RASSF5 0 genome.wustl.edu 37 1 206760274 206760274 + Missense_Mutation SNP G G C TCGA-AO-A0J6-01A-11W-A050-09 TCGA-AO-A0J6-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7d21a0c4-03c7-4641-8b4d-7a5877960360 2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d 1 206760274 206760274 G C SNP RASSF5 ENST00000355294 human ensembl 69_37n +1 known missense c.1221 p.E407D 0.990 pfscan_SARAH pfam_Ras-assoc,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SARAH,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors RASSF5 HGNC ENSG00000136653 351 0 0.00 74 50 40.32 - - - RHOB 0 genome.wustl.edu 37 2 20647263 20647263 + Missense_Mutation SNP G G T TCGA-AO-A0J6-01A-11W-A050-09 TCGA-AO-A0J6-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7d21a0c4-03c7-4641-8b4d-7a5877960360 2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d 2 20647263 20647263 G T SNP RHOB ENST00000272233 human ensembl 69_37n +1 known missense c.37 p.D13Y 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,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,pfam_Small_GTPase_ARF/SAR,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RHOB HGNC ENSG00000143878 37 0 0.00 28 11 28.21 - - - SCARB1 0 genome.wustl.edu 37 12 125296490 125296490 + Missense_Mutation SNP G G A TCGA-AO-A0J6-01A-11W-A050-09 TCGA-AO-A0J6-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7d21a0c4-03c7-4641-8b4d-7a5877960360 2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d 12 125296490 125296490 G A SNP SCARB1 ENST00000415380 human ensembl 69_37n -1 known missense c.652 p.L218F 0.134 pfam_CD36 pfam_CD36,prints_CD36,prints_CD36_antigen - no_errors SCARB1 HGNC ENSG00000073060 250 0 0.00 38 62 62.00 - - - SCARB2 0 genome.wustl.edu 37 4 77100835 77100835 + Silent SNP C C T TCGA-AO-A0J6-01A-11W-A050-09 TCGA-AO-A0J6-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7d21a0c4-03c7-4641-8b4d-7a5877960360 2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d 4 77100835 77100835 C T SNP SCARB2 ENST00000264896 human ensembl 69_37n -1 known silent c.447 p.V149 0.000 pfam_CD36 pfam_CD36,superfamily_NA-bd_OB-fold-like,prints_LimpII,prints_CD36,prints_CD36_antigen - no_errors SCARB2 HGNC ENSG00000138760 96 0 0.00 21 40 65.57 - - - SCLT1 0 genome.wustl.edu 37 4 129873937 129873937 + Missense_Mutation SNP G G A TCGA-AO-A0J6-01A-11W-A050-09 TCGA-AO-A0J6-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7d21a0c4-03c7-4641-8b4d-7a5877960360 2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d 4 129873937 129873937 G A SNP SCLT1 ENST00000281142 human ensembl 69_37n -1 known missense c.1205 p.S402L 1.000 NULL NULL - no_errors SCLT1 HGNC ENSG00000151466 301 0 0.00 82 14 14.58 - - - SCN8A 0 genome.wustl.edu 37 12 52182482 52182482 + Missense_Mutation SNP A A C TCGA-AO-A0J6-01A-11W-A050-09 TCGA-AO-A0J6-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7d21a0c4-03c7-4641-8b4d-7a5877960360 2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d 12 52182482 52182482 A C SNP SCN8A ENST00000354534 human ensembl 69_37n +1 known missense c.4231 p.T1411P 1.000 pfam_Ion_trans_dom 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 126 0 0.00 22 31 58.49 - - - SEZ6L 0 genome.wustl.edu 37 22 26689012 26689012 + Missense_Mutation SNP A A T TCGA-AO-A0J6-01A-11W-A050-09 TCGA-AO-A0J6-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7d21a0c4-03c7-4641-8b4d-7a5877960360 2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d 22 26689012 26689012 A T SNP SEZ6L ENST00000248933 human ensembl 69_37n +1 known missense c.735 p.K245N 0.045 NULL pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors SEZ6L HGNC ENSG00000100095 162 0 0.00 49 53 51.96 - - - SIRPB1 0 genome.wustl.edu 37 20 1600536 1600536 + Missense_Mutation SNP G G C TCGA-AO-A0J6-01A-11W-A050-09 TCGA-AO-A0J6-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7d21a0c4-03c7-4641-8b4d-7a5877960360 2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d 20 1600536 1600536 G C SNP SIRPB1 ENST00000279477 human ensembl 69_37n -1 known missense c.55 p.L19V 0.008 pfscan_Ig-like pfam_Ig_C1-set,pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_C1-set,pfscan_Ig-like - no_errors SIRPB1 HGNC ENSG00000101307 263 0 0.00 146 87 37.34 - - - SLC12A5 0 genome.wustl.edu 37 20 44669237 44669237 + Missense_Mutation SNP G G T TCGA-AO-A0J6-01A-11W-A050-09 TCGA-AO-A0J6-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7d21a0c4-03c7-4641-8b4d-7a5877960360 2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d 20 44669237 44669237 G T SNP SLC12A5 ENST00000454036 human ensembl 69_37n +1 known missense c.907 p.D303Y 1.000 prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS pfam_AA-permease_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A5 HGNC ENSG00000124140 124 0 0.00 55 27 32.93 - - - SLC45A4 0 genome.wustl.edu 37 8 142222615 142222615 + Missense_Mutation SNP C C G TCGA-AO-A0J6-01A-11W-A050-09 TCGA-AO-A0J6-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7d21a0c4-03c7-4641-8b4d-7a5877960360 2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d 8 142222615 142222615 C G SNP SLC45A4 ENST00000517878 human ensembl 69_37n -1 known missense c.1982 p.G661A 1.000 superfamily_MFS_dom_general_subst_transpt superfamily_MFS_dom_general_subst_transpt - no_errors SLC45A4 HGNC ENSG00000022567 87 0 0.00 23 12 33.33 - - - SNN 0 genome.wustl.edu 37 16 11770041 11770041 + Missense_Mutation SNP C C G TCGA-AO-A0J6-01A-11W-A050-09 TCGA-AO-A0J6-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7d21a0c4-03c7-4641-8b4d-7a5877960360 2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d 16 11770041 11770041 C G SNP SNN ENST00000329565 human ensembl 69_37n +1 known missense c.126 p.S42R 1.000 pfam_SNN_linker pfam_SNN_transmemb,pfam_SNN_linker,pfam_SNN_cytoplasm - no_errors SNN HGNC ENSG00000184602 102 0 0.00 39 19 32.76 - - - SNX13 0 genome.wustl.edu 37 7 17915306 17915306 + Missense_Mutation SNP T T A TCGA-AO-A0J6-01A-11W-A050-09 TCGA-AO-A0J6-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7d21a0c4-03c7-4641-8b4d-7a5877960360 2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d 7 17915306 17915306 T A SNP SNX13 ENST00000428135 human ensembl 69_37n -1 novel missense c.548 p.D183V 1.000 pfam_Phox_assoc,superfamily_Cyt_c_oxidase_su5A/6,smart_PX_assoc_Snx13,pfscan_Phox_assoc pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_Phox,pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,superfamily_Phox,superfamily_Cyt_c_oxidase_su5A/6,smart_PX_assoc_Snx13,smart_Regulat_G_prot_signal,smart_Phox,pfscan_Phox,pfscan_Phox_assoc,pfscan_Regulat_G_prot_signal - no_errors SNX13 HGNC ENSG00000071189 767 0 0.00 326 64 16.41 - - - STX10 0 genome.wustl.edu 37 19 13260582 13260582 + Missense_Mutation SNP G G T TCGA-AO-A0J6-01A-11W-A050-09 TCGA-AO-A0J6-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7d21a0c4-03c7-4641-8b4d-7a5877960360 2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d 19 13260582 13260582 G T SNP STX10 ENST00000587318 human ensembl 69_37n -1 putative missense c.118 p.Q40K 0.967 pfam_Syntaxin-6_N,superfamily_t-SNARE pfam_Syntaxin-6_N,pfam_T_SNARE_dom,superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region STX10 HGNC ENSG00000104915 65 0 0.00 23 24 51.06 - - - SUV420H2 0 genome.wustl.edu 37 19 55853589 55853590 + Frame_Shift_Ins INS - - C TCGA-AO-A0J6-01A-11W-A050-09 TCGA-AO-A0J6-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7d21a0c4-03c7-4641-8b4d-7a5877960360 2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d 19 55853589 55853590 - C INS SUV420H2 ENST00000255613 human ensembl 69_37n +1 known frame_shift_ins c.117_118 p.L41fs 0.990:1.000 NULL pfam_SET_dom,smart_SET_dom,pfscan_SET_dom - no_errors SUV420H2 HGNC ENSG00000133247 9 0 0.00 4 2 33.33 - - - SYNJ1 0 genome.wustl.edu 37 21 34099183 34099183 + Silent SNP C C T TCGA-AO-A0J6-01A-11W-A050-09 TCGA-AO-A0J6-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7d21a0c4-03c7-4641-8b4d-7a5877960360 2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d 21 34099183 34099183 C T SNP SYNJ1 ENST00000433931 human ensembl 69_37n -1 known silent c.141 p.R47 0.989 NULL pfam_Syja_N,pfam_Endo/exonuclease/phosphatase,pfam_DUF1866,superfamily_Endo/exonuclease/phosphatase,smart_IPPc,pfscan_RRM_dom,pfscan_Syja_N - no_errors SYNJ1 HGNC ENSG00000159082 193 0 0.00 35 10 22.22 - - - TAGLN2 0 genome.wustl.edu 37 1 159889125 159889125 + Missense_Mutation SNP C C G TCGA-AO-A0J6-01A-11W-A050-09 TCGA-AO-A0J6-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7d21a0c4-03c7-4641-8b4d-7a5877960360 2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d 1 159889125 159889125 C G SNP TAGLN2 ENST00000368096 human ensembl 69_37n -1 known missense c.460 p.G154R 1.000 superfamily_CH-domain,prints_SM22_calponin,pfscan_CH-domain pfam_CH-domain,pfam_Calponin_repeat,superfamily_CH-domain,smart_CH-domain,prints_SM22_calponin,prints_Transgelin,pfscan_CH-domain,pfscan_Calponin_repeat - no_errors TAGLN2 HGNC ENSG00000158710 102 0 0.00 88 19 17.76 - - - TCEANC2 0 genome.wustl.edu 37 1 54534542 54534542 + Silent SNP C C A TCGA-AO-A0J6-01A-11W-A050-09 TCGA-AO-A0J6-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7d21a0c4-03c7-4641-8b4d-7a5877960360 2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d 1 54534542 54534542 C A SNP TCEANC2 ENST00000371331 human ensembl 69_37n +1 known silent c.306 p.S102 0.999 pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub pfam_TFIIS_N,superfamily_TFIIS_N,superfamily_TFIIS_cen_dom,smart_TFIIS/CRSP70_N_sub - no_errors TCEANC2 HGNC ENSG00000116205 106 0 0.00 42 36 46.15 - - - TDRD5 0 genome.wustl.edu 37 1 179632507 179632507 + Missense_Mutation SNP G G A TCGA-AO-A0J6-01A-11W-A050-09 TCGA-AO-A0J6-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7d21a0c4-03c7-4641-8b4d-7a5877960360 2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d 1 179632507 179632507 G A SNP TDRD5 ENST00000444136 human ensembl 69_37n +1 known missense c.2530 p.D844N 0.032 NULL pfam_Tudor,smart_Tudor,pfscan_Tudor - no_errors TDRD5 HGNC ENSG00000162782 238 0 0.00 137 56 29.02 - - - TET3 0 genome.wustl.edu 37 2 74274174 74274174 + Missense_Mutation SNP C C A TCGA-AO-A0J6-01A-11W-A050-09 TCGA-AO-A0J6-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7d21a0c4-03c7-4641-8b4d-7a5877960360 2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d 2 74274174 74274174 C A SNP TET3 ENST00000409262 human ensembl 69_37n +1 known missense c.725 p.T242N 0.957 NULL NULL - no_errors TET3 HGNC ENSG00000187605 71 0 0.00 28 17 37.78 - - - TNRC18 0 genome.wustl.edu 37 7 5352742 5352742 + Missense_Mutation SNP C C A TCGA-AO-A0J6-01A-11W-A050-09 TCGA-AO-A0J6-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7d21a0c4-03c7-4641-8b4d-7a5877960360 2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d 7 5352742 5352742 C A SNP TNRC18 ENST00000399537 human ensembl 69_37n -1 known missense c.7780 p.G2594C 0.540 NULL pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors TNRC18 HGNC ENSG00000182095 13 0 0.00 29 9 23.68 - - - TP53 0 genome.wustl.edu 37 17 7578218 7578218 + Frame_Shift_Del DEL T T - TCGA-AO-A0J6-01A-11W-A050-09 TCGA-AO-A0J6-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7d21a0c4-03c7-4641-8b4d-7a5877960360 2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d 17 7578218 7578218 T - DEL TP53 ENST00000269305 human ensembl 69_37n -1 known frame_shift_del c.631 p.T211fs 0.993 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 402 0 0.00 93 196 63.02 - - - TTN 0 genome.wustl.edu 37 2 179442477 179442477 + Missense_Mutation SNP G G C TCGA-AO-A0J6-01A-11W-A050-09 TCGA-AO-A0J6-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7d21a0c4-03c7-4641-8b4d-7a5877960360 2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d 2 179442477 179442477 G C SNP TTN ENST00000342992 human ensembl 69_37n -1 known missense c.60972 p.N20324K 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 122 0 0.00 65 24 26.97 - - - TUBA1B 0 genome.wustl.edu 37 12 49523054 49523054 + Missense_Mutation SNP C C G TCGA-AO-A0J6-01A-11W-A050-09 TCGA-AO-A0J6-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7d21a0c4-03c7-4641-8b4d-7a5877960360 2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d 12 49523054 49523054 C G SNP TUBA1B ENST00000336023 human ensembl 69_37n -1 known missense c.346 p.D116H 1.000 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Tubulin,prints_Epsilon_tubulin,prints_Beta_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Beta_tubulin,prints_Delta_tubulin - no_errors TUBA1B HGNC ENSG00000123416 169 0 0.00 75 18 19.35 - - - TULP4 0 genome.wustl.edu 37 6 158924964 158924964 + Missense_Mutation SNP C C A TCGA-AO-A0J6-01A-11W-A050-09 TCGA-AO-A0J6-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7d21a0c4-03c7-4641-8b4d-7a5877960360 2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d 6 158924964 158924964 C A SNP TULP4 ENST00000367097 human ensembl 69_37n +1 known missense c.4269 p.S1423R 1.000 NULL pfam_Tubby_C,pfam_SOCS_C,pfam_WD40_repeat,superfamily_Tubby_C-like,superfamily_WD40_repeat_dom,superfamily_Tumour_necrosis_fac-like,smart_WD40_repeat,smart_SOCS_C,pfscan_SOCS_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TULP4 HGNC ENSG00000130338 100 0 0.00 8 17 68.00 - - - UNC13A 0 genome.wustl.edu 37 19 17768991 17768991 + Missense_Mutation SNP G G A TCGA-AO-A0J6-01A-11W-A050-09 TCGA-AO-A0J6-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7d21a0c4-03c7-4641-8b4d-7a5877960360 2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d 19 17768991 17768991 G A SNP UNC13A ENST00000428389 human ensembl 69_37n -1 known missense c.911 p.T304M 1.000 NULL pfam_Munc13_subgr_dom-2,pfam_C2_Ca-dep,pfam_Ca-dep_secretion_activator,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13A HGNC ENSG00000130477 99 0 0.00 74 19 20.43 - - - USH2A 0 genome.wustl.edu 37 1 216062079 216062079 + Missense_Mutation SNP T T G TCGA-AO-A0J6-01A-11W-A050-09 TCGA-AO-A0J6-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7d21a0c4-03c7-4641-8b4d-7a5877960360 2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d 1 216062079 216062079 T G SNP USH2A ENST00000366943 human ensembl 69_37n -1 known missense c.7912 p.T2638P 0.997 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 329 0 0.00 156 88 36.07 - - - WDR48 0 genome.wustl.edu 37 3 39118666 39118666 + Missense_Mutation SNP A A G TCGA-AO-A0J6-01A-11W-A050-09 TCGA-AO-A0J6-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7d21a0c4-03c7-4641-8b4d-7a5877960360 2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d 3 39118666 39118666 A G SNP WDR48 ENST00000302313 human ensembl 69_37n +1 known missense c.934 p.I312V 0.478 superfamily_WD40_repeat_dom pfam_DUF3337,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR48 HGNC ENSG00000114742 119 0 0.00 24 30 55.56 - - - WIPF2 0 genome.wustl.edu 37 17 38412741 38412741 + Silent SNP A A T TCGA-AO-A0J6-01A-11W-A050-09 TCGA-AO-A0J6-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7d21a0c4-03c7-4641-8b4d-7a5877960360 2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d 17 38412741 38412741 A T SNP WIPF2 ENST00000323571 human ensembl 69_37n +1 known silent c.30 p.P10 0.038 NULL smart_WH2_dom,pfscan_WH2_dom - no_errors WIPF2 HGNC ENSG00000171475 218 0 0.00 43 69 61.61 - - - ZNF66P 0 genome.wustl.edu 37 19 20989903 20989903 + Missense_Mutation SNP T T A TCGA-AO-A0J6-01A-11W-A050-09 TCGA-AO-A0J6-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7d21a0c4-03c7-4641-8b4d-7a5877960360 2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d 19 20989903 20989903 T A SNP ZNF66P ENST00000344519 human ensembl 69_37n +1 novel missense c.1497 p.H499Q 0.855 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 ZNF66P HGNC ENSG00000160229 31 0 0.00 31 7 18.42 - - - ZNF687 0 genome.wustl.edu 37 1 151259889 151259889 + Silent SNP C C G TCGA-AO-A0J6-01A-11W-A050-09 TCGA-AO-A0J6-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 7d21a0c4-03c7-4641-8b4d-7a5877960360 2014e5c3-3ac5-4d79-8942-3ee4e0cbf60d 1 151259889 151259889 C G SNP ZNF687 ENST00000324048 human ensembl 69_37n +1 known silent c.1122 p.S374 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF687 HGNC ENSG00000143373 74 0 0.00 46 22 32.35 - - -