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 start stop reference variant type gene_name transcript_name transcript_species transcript_source transcript_version strand transcript_status trv_type c_position amino_acid_change ucsc_cons domain all_domains deletion_substructures transcript_error default_gene_name gene_name_source ensembl_gene_id tier title header normal_ref_reads normal_var_reads normal_VAF tumor_ref_reads tumor_var_reads tumor_VAF ABCB1 0 genome.wustl.edu 37 7 87195492 87195492 + Missense_Mutation SNP G G T TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 7 87195492 87195492 G T SNP ABCB1 ENST00000265724 human ensembl 74_37 -1 known missense c.596 p.T199K 0.997 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB1 HGNC ENSG00000085563 tier1 - - 101 0 0.00 210 48 18.53 ADAMTSL3 0 genome.wustl.edu 37 15 84527585 84527585 + Silent SNP C C T TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 15 84527585 84527585 C T SNP ADAMTSL3 ENST00000286744 human ensembl 74_37 +1 known silent c.795 p.A265 0.998 NULL pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTSL3 HGNC ENSG00000156218 tier1 - - 69 0 0.00 57 8 12.31 AHNAK 0 genome.wustl.edu 37 11 62292268 62292268 + Silent SNP G G A TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 11 62292268 62292268 G A SNP AHNAK ENST00000378024 human ensembl 74_37 -1 known silent c.9621 p.F3207 0.997 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC ENSG00000124942 tier1 - - 277 0 0.00 256 48 15.74 ALAD 0 genome.wustl.edu 37 9 116151366 116151366 + Silent SNP G G A TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 9 116151366 116151366 G A SNP ALAD ENST00000409155 human ensembl 74_37 -1 known silent c.822 p.A274 0.735 pfam_Porphobilinogen_synth,pirsf_Porphobilinogen_synth,prints_Porphobilinogen_synth pfam_Porphobilinogen_synth,pirsf_Porphobilinogen_synth,prints_Porphobilinogen_synth - no_errors ALAD HGNC ENSG00000148218 tier1 - - 40 0 0.00 10 7 41.18 ALMS1 0 genome.wustl.edu 37 2 73800203 73800203 + Silent SNP T T G TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 2 73800203 73800203 T G SNP ALMS1 ENST00000264448 human ensembl 74_37 +1 known silent c.11196 p.T3732 0.957 NULL NULL - no_errors ALMS1 HGNC ENSG00000116127 tier1 - - 58 0 0.00 40 17 29.82 ASXL3 0 genome.wustl.edu 37 18 31326040 31326040 + Silent SNP T T C TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 18 31326040 31326040 T C SNP ASXL3 ENST00000269197 human ensembl 74_37 +1 known silent c.6228 p.C2076 1.000 NULL superfamily_Znf_FYVE_PHD - no_errors ASXL3 HGNC ENSG00000141431 tier1 - - 73 0 0.00 24 30 55.56 ATP10A 0 genome.wustl.edu 37 15 25953238 25953238 + Silent SNP T T C TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 15 25953238 25953238 T C SNP ATP10A ENST00000356865 human ensembl 74_37 -1 known silent c.2460 p.K820 0.836 superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP10A HGNC ENSG00000206190 tier1 - - 46 0 0.00 14 9 39.13 ATP10A 0 genome.wustl.edu 37 15 25953245 25953245 + Missense_Mutation SNP A A C TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 15 25953245 25953245 A C SNP ATP10A ENST00000356865 human ensembl 74_37 -1 known missense c.2453 p.L818R 1.000 superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP10A HGNC ENSG00000206190 tier1 - - 47 0 0.00 17 10 37.04 BCAT2 0 genome.wustl.edu 37 19 49303258 49303258 + Missense_Mutation SNP G G T TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 19 49303258 49303258 G T SNP BCAT2 ENST00000316273 human ensembl 74_37 -1 known missense c.511 p.P171T 1.000 pfam_Aminotrans_IV,superfamily_Aminotrans_IV,pirsf_B_amino_transII,tigrfam_B_amino_transII pfam_Aminotrans_IV,superfamily_Aminotrans_IV,pirsf_B_amino_transII,tigrfam_B_amino_transII - no_errors BCAT2 HGNC ENSG00000105552 tier1 - - 48 0 0.00 23 9 28.12 BEND2 0 genome.wustl.edu 37 X 18209166 18209166 + Missense_Mutation SNP C C A TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 X 18209166 18209166 C A SNP BEND2 ENST00000380033 human ensembl 74_37 -1 known missense c.1243 p.D415Y 0.000 NULL pfam_BEN_domain - no_errors BEND2 HGNC ENSG00000177324 tier1 - - 119 0 0.00 58 19 24.68 BLZF1 0 genome.wustl.edu 37 1 169338789 169338789 + Splice_Site SNP G G A TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 1 169338789 169338789 G A SNP BLZF1 ENST00000329281 human ensembl 74_37 +1 known splice_site c.28+1 e1+1 1.000 - - - no_errors BLZF1 HGNC ENSG00000117475 tier1 - - 32 0 0.00 12 5 29.41 BSN 0 genome.wustl.edu 37 3 49700578 49700578 + Missense_Mutation SNP G G A TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 3 49700578 49700578 G A SNP BSN ENST00000296452 human ensembl 74_37 +1 known missense c.10987 p.G3663R 0.003 NULL pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD - no_errors BSN HGNC ENSG00000164061 tier1 - - 16 0 0.00 9 9 50.00 C17orf76-AS1 0 genome.wustl.edu 37 17 16344523 16344524 + RNA INS - - AA TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 17 16344523 16344524 - AA INS C17orf76-AS1 ENST00000460249 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors C17orf76-AS1 HGNC ENSG00000175061 tier1 69 0 0.00 31 3 8.82 CASKIN1 0 genome.wustl.edu 37 16 2237059 2237059 + Frame_Shift_Del DEL G G - TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 16 2237059 2237059 G - DEL CASKIN1 ENST00000343516 human ensembl 74_37 -1 known frame_shift_del c.850 p.L284fs 0.962 superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_SH3_domain,pfscan_Ankyrin_rpt-contain_dom,pfscan_SH3_domain pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_SH3_domain,prints_Ankyrin_rpt - no_errors CASKIN1 HGNC ENSG00000167971 tier1 102 0 0.00 64 10 13.51 CCL11 0 genome.wustl.edu 37 17 32614137 32614137 + Silent SNP C C T TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 17 32614137 32614137 C T SNP CCL11 ENST00000305869 human ensembl 74_37 +1 known silent c.99 p.C33 0.997 pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom - no_errors CCL11 HGNC ENSG00000172156 tier1 - - 51 0 0.00 36 11 23.40 CCNB3 0 genome.wustl.edu 37 X 50052855 50052855 + Silent SNP T T A TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 X 50052855 50052855 T A SNP CCNB3 ENST00000276014 human ensembl 74_37 +1 known silent c.1686 p.S562 0.000 NULL pfam_Cyclin_N,pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNB3 HGNC ENSG00000147082 tier1 - - 49 0 0.00 31 13 29.55 CDKN2A 0 genome.wustl.edu 37 9 21974760 21974760 + Missense_Mutation SNP C C G TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 9 21974760 21974760 C G SNP CDKN2A ENST00000446177 human ensembl 74_37 -1 known missense c.67 p.G23R 0.963 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom - no_errors CDKN2A HGNC ENSG00000147889 tier1 - - 68 0 0.00 26 23 46.94 CEACAM5 0 genome.wustl.edu 37 19 42218979 42218980 + In_Frame_Ins INS - - AGG TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 19 42218979 42218980 - AGG INS CEACAM5 ENST00000221992 human ensembl 74_37 +1 known in_frame_ins c.514_515 p.173in_frame_insE 0.007:0.009 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors CEACAM5 HGNC ENSG00000105388 tier1 196 0 0.00 100 26 20.63 CRISPLD1 0 genome.wustl.edu 37 8 75898349 75898349 + Missense_Mutation SNP G G T TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 8 75898349 75898349 G T SNP CRISPLD1 ENST00000262207 human ensembl 74_37 +1 known missense c.127 p.D43Y 1.000 superfamily_CAP_domain pfam_LCCL,pfam_CAP_domain,superfamily_CAP_domain,superfamily_LCCL,smart_Allrgn_V5/Tpx1,smart_LCCL,pfscan_LCCL,prints_Allrgn_V5/Tpx1 - no_errors CRISPLD1 HGNC ENSG00000121005 tier1 - - 58 0 0.00 46 18 28.12 CSNK2A3 0 genome.wustl.edu 37 11 11374128 11374128 + Missense_Mutation SNP T T G TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 11 11374128 11374128 T G SNP CSNK2A3 ENST00000528848 human ensembl 74_37 -1 novel missense c.539 p.E180A 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CSNK2A3 HGNC ENSG00000254598 tier1 - - 88 0 0.00 71 29 29.00 DMD 0 genome.wustl.edu 37 X 31525440 31525440 + Missense_Mutation SNP T T G TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 X 31525440 31525440 T G SNP DMD ENST00000357033 human ensembl 74_37 -1 known missense c.8348 p.N2783T 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 tier1 - - 110 0 0.00 81 18 18.18 DPY19L2P1 0 genome.wustl.edu 37 7 35131356 35131357 + RNA DEL TG TG - TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 TG TG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 7 35131356 35131357 TG - DEL DPY19L2P1 ENST00000436258 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors DPY19L2P1 HGNC ENSG00000189212 tier1 13 0 0.00 4 2 33.33 EEF1E1 0 genome.wustl.edu 37 6 8097577 8097577 + Missense_Mutation SNP C C T TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 6 8097577 8097577 C T SNP EEF1E1 ENST00000379715 human ensembl 74_37 -1 known missense c.211 p.V71I 1.000 superfamily_Glutathione-S-Trfase_C-like pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like - no_errors EEF1E1 HGNC ENSG00000124802 tier1 - - 151 0 0.00 137 13 8.61 EFCAB4A 0 genome.wustl.edu 37 11 831245 831245 + Nonsense_Mutation SNP G G T TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 11 831245 831245 G T SNP EFCAB4A ENST00000450448 human ensembl 74_37 +1 known nonsense c.808 p.E270* 0.997 NULL pfscan_EF_hand_dom - no_errors EFCAB4A HGNC ENSG00000177685 tier1 - - 43 0 0.00 28 12 30.00 ENSG00000234864 0 genome.wustl.edu 37 10 43197559 43197559 + RNA SNP G G C TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 10 43197559 43197559 G C SNP ENSG00000234864 ENST00000439913 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors AL022344.5 Clone_based_vega_gene ENSG00000234864 tier1 - - 60 0 0.00 30 6 16.67 ENSG00000260741 0 genome.wustl.edu 37 16 23224345 23224345 + RNA SNP A A C TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 16 23224345 23224345 A C SNP ENSG00000260741 ENST00000563471 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CTC-391G2.1 Clone_based_vega_gene ENSG00000260741 tier1 - - 25 0 0.00 23 7 23.33 FAT4 0 genome.wustl.edu 37 4 126389761 126389761 + Missense_Mutation SNP T T G TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 4 126389761 126389761 T G SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.11994 p.I3998M 1.000 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 tier1 - - 108 0 0.00 46 37 44.58 FEZF2 0 genome.wustl.edu 37 3 62356908 62356908 + Silent SNP T T C TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 3 62356908 62356908 T C SNP FEZF2 ENST00000283268 human ensembl 74_37 -1 known silent c.1104 p.K368 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors FEZF2 HGNC ENSG00000153266 tier1 - - 69 0 0.00 19 18 48.65 FKBP7 0 genome.wustl.edu 37 2 179330469 179330469 + RNA DEL A A - TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 2 179330469 179330469 A - DEL FKBP7 ENST00000464248 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors FKBP7 HGNC ENSG00000079150 tier1 20 0 0.00 26 3 10.34 FMR1 0 genome.wustl.edu 37 X 147009864 147009864 + Missense_Mutation SNP G G C TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 X 147009864 147009864 G C SNP FMR1 ENST00000370475 human ensembl 74_37 +1 known missense c.223 p.E75Q 1.000 pfam_Agenet-like_dom pfam_Frag_X_MRP_fam,pfam_KH_dom_type_1,pfam_Agenet-like_dom,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors FMR1 HGNC ENSG00000102081 tier1 - - 212 0 0.00 151 19 11.18 FRYL 0 genome.wustl.edu 37 4 48529989 48529989 + Missense_Mutation SNP G G A TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 4 48529989 48529989 G A SNP FRYL ENST00000358350 human ensembl 74_37 -1 known missense c.7139 p.S2380L 0.999 NULL superfamily_ARM-type_fold - no_errors FRYL HGNC ENSG00000075539 tier1 - - 67 0 0.00 64 10 13.51 FSCB 0 genome.wustl.edu 37 14 44974298 44974298 + Silent SNP G G A TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 14 44974298 44974298 G A SNP FSCB ENST00000340446 human ensembl 74_37 -1 known silent c.1893 p.P631 0.000 NULL NULL - no_errors FSCB HGNC ENSG00000189139 34 0 0.00 29 2 6.45 GABRA4 0 genome.wustl.edu 37 4 46930377 46930377 + Silent SNP A A C TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 4 46930377 46930377 A C SNP GABRA4 ENST00000264318 human ensembl 74_37 -1 known silent c.1530 p.P510 0.013 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABBAa4_rcpt,prints_GABAA_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRA4 HGNC ENSG00000109158 tier1 - - 91 0 0.00 94 25 21.01 GCK 0 genome.wustl.edu 37 7 44185220 44185220 + Missense_Mutation SNP G G A TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 7 44185220 44185220 G A SNP GCK ENST00000345378 human ensembl 74_37 -1 known missense c.1132 p.R378C 1.000 pfam_Hexokinase_C,prints_Hexokinase pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase - no_errors GCK HGNC ENSG00000106633 tier1 - - 20 0 0.00 13 6 31.58 GHR 0 genome.wustl.edu 37 5 42719133 42719133 + Silent SNP G G A TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 5 42719133 42719133 G A SNP GHR ENST00000230882 human ensembl 74_37 +1 known silent c.1524 p.K508 1.000 NULL pfam_Growth/epo_recpt_lig-bind,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors GHR HGNC ENSG00000112964 tier1 - - 54 0 0.00 21 20 48.78 GNAS 0 genome.wustl.edu 37 20 57429166 57429166 + Missense_Mutation SNP C C A TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 20 57429166 57429166 C A SNP GNAS ENST00000306120 human ensembl 74_37 +1 putative missense c.656 p.A219E 0.938 NULL NULL - no_errors GNAS HGNC ENSG00000087460 tier1 - - 37 0 0.00 18 11 37.93 HECW2 0 genome.wustl.edu 37 2 197199185 197199185 + Missense_Mutation SNP G G A TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 2 197199185 197199185 G A SNP HECW2 ENST00000260983 human ensembl 74_37 -1 known missense c.458 p.T153M 1.000 NULL pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_WW_dom,superfamily_C2_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom - no_errors HECW2 HGNC ENSG00000138411 tier1 - - 10 0 0.00 9 6 40.00 HMBS 0 genome.wustl.edu 37 11 118958998 118958998 + Missense_Mutation SNP G G A TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 11 118958998 118958998 G A SNP HMBS ENST00000278715 human ensembl 74_37 +1 known missense c.67 p.V23M 0.976 pfam_Porphobilin_deaminase_N,pirsf_4pyrrol_synth_OHMeBilane_synth,tigrfam_4pyrrol_synth_OHMeBilane_synth pfam_Porphobilin_deaminase_N,pfam_Porphobilinogen_deaminase_C,superfamily_Porphobilinogen_deaminase_C,pirsf_4pyrrol_synth_OHMeBilane_synth,prints_4pyrrol_synth_OHMeBilane_synth,tigrfam_4pyrrol_synth_OHMeBilane_synth - no_errors HMBS HGNC ENSG00000256269 tier1 - - 115 0 0.00 57 38 40.00 HNRNPL 0 genome.wustl.edu 37 19 39336512 39336512 + Missense_Mutation SNP G G A TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 19 39336512 39336512 G A SNP HNRNPL ENST00000221419 human ensembl 74_37 -1 known missense c.605 p.P202L 1.000 smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB - no_errors HNRNPL HGNC ENSG00000104824 tier1 - - 82 0 0.00 38 12 24.00 IGBP1 0 genome.wustl.edu 37 X 69366608 69366608 + Missense_Mutation SNP T T C TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 X 69366608 69366608 T C SNP IGBP1 ENST00000342206 human ensembl 74_37 +1 known missense c.608 p.I203T 0.924 pfam_TAP42-like pfam_TAP42-like - no_errors IGBP1 HGNC ENSG00000089289 57 0 0.00 40 6 13.04 IL2RG 0 genome.wustl.edu 37 X 70327686 70327686 + Frame_Shift_Del DEL G G - TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 X 70327686 70327686 G - DEL IL2RG ENST00000374202 human ensembl 74_37 -1 known frame_shift_del c.1010 p.P337fs 0.887 NULL pfam_IL-6_rcpt_alpha-bd,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL2RG HGNC ENSG00000147168 tier1 41 0 0.00 23 2 8.00 IMMT 0 genome.wustl.edu 37 2 86385683 86385683 + RNA DEL C C - TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 2 86385683 86385683 C - DEL IMMT ENST00000490238 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors IMMT HGNC ENSG00000132305 tier1 8 0 0.00 3 3 50.00 IRAK2 0 genome.wustl.edu 37 3 10283810 10283810 + Silent SNP T T G TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 3 10283810 10283810 T G SNP IRAK2 ENST00000256458 human ensembl 74_37 +1 known silent c.1776 p.T592 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death_domain,superfamily_Kinase-like_dom,superfamily_DEATH-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors IRAK2 HGNC ENSG00000134070 tier1 - - 57 0 0.00 27 28 50.91 ISCU 0 genome.wustl.edu 37 12 108961019 108961019 + Silent SNP T T C TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 12 108961019 108961019 T C SNP ISCU ENST00000311893 human ensembl 74_37 +1 known silent c.393 p.L131 0.029 pfam_NIF_FeS_clus_asmbl_NifU_N,tigrfam_ISC_FeS_clus_asmbl_IscU pfam_NIF_FeS_clus_asmbl_NifU_N,tigrfam_ISC_FeS_clus_asmbl_IscU - no_errors ISCU HGNC ENSG00000136003 tier1 - - 71 0 0.00 49 18 26.87 JARID2 0 genome.wustl.edu 37 6 15501508 15501508 + Silent SNP C C T TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 6 15501508 15501508 C T SNP JARID2 ENST00000341776 human ensembl 74_37 +1 known silent c.2316 p.S772 1.000 NULL pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_TF_JmjN,pfam_Znf_C5HC2,superfamily_ARID/BRIGHT_DNA-bd,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_ARID/BRIGHT_DNA-bd - no_errors JARID2 HGNC ENSG00000008083 tier1 - - 122 0 0.00 43 54 55.67 KCNAB3 0 genome.wustl.edu 37 17 7827809 7827809 + Missense_Mutation SNP C C T TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 17 7827809 7827809 C T SNP KCNAB3 ENST00000303790 human ensembl 74_37 -1 known missense c.635 p.R212Q 1.000 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,tigrfam_K_chnl_volt-dep_bsu_KCNAB pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_K_chnl_volt-dep_bsu_KCNAB-rel,prints_K_chnl_volt-dep_bsu_KCNAB3,prints_K_chnl_volt-dep_bsu_KCNAB1,tigrfam_K_chnl_volt-dep_bsu_KCNAB - no_errors KCNAB3 HGNC ENSG00000170049 tier1 - - 48 0 0.00 38 11 22.45 KIAA0319 0 genome.wustl.edu 37 6 24596276 24596276 + Missense_Mutation SNP G G A TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 6 24596276 24596276 G A SNP KIAA0319 ENST00000378214 human ensembl 74_37 -1 known missense c.626 p.T209M 0.000 NULL pfam_PKD/REJ-like,superfamily_PKD_dom,smart_MANSC_N,smart_Fibronectin_type3,smart_PKD/Chitinase_dom,pfscan_MANSC,pfscan_PKD_dom - no_errors KIAA0319 HGNC ENSG00000137261 tier1 rs146508644 - 45 0 0.00 17 10 37.04 KIF2B 0 genome.wustl.edu 37 17 51901630 51901630 + Silent SNP T T G TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 17 51901630 51901630 T G SNP KIF2B ENST00000268919 human ensembl 74_37 +1 known silent c.1236 p.T412 0.998 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF2B HGNC ENSG00000141200 tier1 - - 48 0 0.00 36 22 37.93 KLC4 0 genome.wustl.edu 37 6 43034801 43034801 + Missense_Mutation SNP T T A TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 6 43034801 43034801 T A SNP KLC4 ENST00000259708 human ensembl 74_37 +1 known missense c.913 p.L305M 0.988 pfscan_TPR-contain_dom pfam_Rabaptin_Rab5-bd_dom,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Kinesin_light - no_errors KLC4 HGNC ENSG00000137171 tier1 - - 67 0 0.00 61 11 15.28 KLHL1 0 genome.wustl.edu 37 13 70371033 70371033 + Missense_Mutation SNP C C T TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 13 70371033 70371033 C T SNP KLHL1 ENST00000377844 human ensembl 74_37 -1 known missense c.1476 p.M492I 1.000 pfam_Kelch_1,smart_Kelch_1 pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHL1 HGNC ENSG00000150361 tier1 - - 173 0 0.00 115 24 17.27 LCE1F 0 genome.wustl.edu 37 1 152748991 152748991 + Silent SNP C C T TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 1 152748991 152748991 C T SNP LCE1F ENST00000334371 human ensembl 74_37 +1 known silent c.144 p.S48 0.786 NULL NULL - no_errors LCE1F HGNC ENSG00000240386 tier1 - - 103 0 0.00 60 6 9.09 LCE1F 0 genome.wustl.edu 37 1 152748994 152748994 + Silent SNP A A G TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 1 152748994 152748994 A G SNP LCE1F ENST00000334371 human ensembl 74_37 +1 known silent c.147 p.G49 0.848 NULL NULL - no_errors LCE1F HGNC ENSG00000240386 tier1 - - 100 0 0.00 62 6 8.82 LOC100131825 0 genome.wustl.edu 37 1 159166613 159166613 + RNA DEL T T - TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 1 159166613 159166613 T - DEL LOC100131825 ENST00000415675 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CTA-134P22.2 Clone_based_vega_gene ENSG00000225670 tier1 17 0 0.00 14 3 17.65 LRP1B 0 genome.wustl.edu 37 2 141598520 141598520 + Missense_Mutation SNP T T G TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 2 141598520 141598520 T G SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.5081 p.K1694T 1.000 smart_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 tier1 - - 87 0 0.00 63 25 28.41 LRRC37A3 0 genome.wustl.edu 37 17 62856327 62856327 + Missense_Mutation SNP G G A TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 17 62856327 62856327 G A SNP LRRC37A3 ENST00000319651 human ensembl 74_37 -1 known missense c.3937 p.R1313C 0.001 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC37A3 HGNC ENSG00000176809 tier1 rs139741056 - 279 0 0.00 214 83 27.95 MACF1 0 genome.wustl.edu 37 1 39893908 39893908 + Silent SNP C C T TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 1 39893908 39893908 C T SNP MACF1 ENST00000317713 human ensembl 74_37 +1 known silent c.10566 p.F3522 1.000 smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors MACF1 HGNC ENSG00000127603 tier1 - - 29 0 0.00 17 5 22.73 MAGEA1 0 genome.wustl.edu 37 X 152482527 152482527 + Missense_Mutation SNP C C A TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 X 152482527 152482527 C A SNP MAGEA1 ENST00000356661 human ensembl 74_37 -1 known missense c.484 p.A162S 0.005 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEA1 HGNC ENSG00000198681 tier1 - - 159 0 0.00 95 32 25.20 MAP7D2 0 genome.wustl.edu 37 X 20028955 20028955 + Missense_Mutation SNP G G A TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 X 20028955 20028955 G A SNP MAP7D2 ENST00000379643 human ensembl 74_37 -1 known missense c.2288 p.P763L 1.000 NULL pfam_MAP7 - no_errors MAP7D2 HGNC ENSG00000184368 tier1 - - 159 0 0.00 86 31 26.50 MARCH4 0 genome.wustl.edu 37 2 217142483 217142483 + Silent SNP A A C TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 2 217142483 217142483 A C SNP MARCH4 ENST00000273067 human ensembl 74_37 -1 known silent c.777 p.T259 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH - no_errors MARCH4 HGNC ENSG00000144583 tier1 - - 82 0 0.00 76 21 21.43 MB21D1 0 genome.wustl.edu 37 6 74138522 74138522 + Missense_Mutation SNP C C A TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 6 74138522 74138522 C A SNP MB21D1 ENST00000370315 human ensembl 74_37 -1 known missense c.1127 p.R376L 1.000 pfam_Mab-21_dom pfam_Mab-21_dom - no_errors MB21D1 HGNC ENSG00000164430 tier1 - - 111 0 0.00 81 12 12.90 MCF2L 0 genome.wustl.edu 37 13 113556592 113556592 + Missense_Mutation SNP G G A TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 13 113556592 113556592 G A SNP MCF2L ENST00000375608 human ensembl 74_37 +1 known missense c.76 p.E26K 0.453 NULL pfam_DH-domain,pfam_Spectrin_repeat,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors MCF2L HGNC ENSG00000126217 tier1 - - 33 0 0.00 13 11 45.83 MED25 0 genome.wustl.edu 37 19 50333986 50333986 + Missense_Mutation SNP G G A TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 19 50333986 50333986 G A SNP MED25 ENST00000312865 human ensembl 74_37 +1 known missense c.943 p.G315R 0.984 pfam_Mediator_Med25_SD1 pfam_Mediator_Med25_VWA,pfam_Mediator_Med25,pfam_Mediator_Med25_SD1,pfam_Mediator_Med25_NR-box - no_errors MED25 HGNC ENSG00000104973 tier1 - - 52 0 0.00 26 13 33.33 MN1 0 genome.wustl.edu 37 22 28193444 28193444 + Missense_Mutation SNP C C T TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 22 28193444 28193444 C T SNP MN1 ENST00000302326 human ensembl 74_37 -1 known missense c.3088 p.G1030S 1.000 NULL NULL - no_errors MN1 HGNC ENSG00000169184 tier1 - - 82 0 0.00 54 25 31.65 MORF4L1 0 genome.wustl.edu 37 15 79178512 79178512 + Missense_Mutation SNP T T A TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 15 79178512 79178512 T A SNP MORF4L1 ENST00000331268 human ensembl 74_37 +1 known missense c.302 p.V101E 1.000 superfamily_Chromodomain-like,pirsf_EAF3/MRG15 pfam_MRG_dom,pfam_Tudor-knot,superfamily_Chromodomain-like,pirsf_EAF3/MRG15 - no_errors MORF4L1 HGNC ENSG00000185787 tier1 - - 80 0 0.00 62 20 24.39 MUC16 0 genome.wustl.edu 37 19 9084624 9084624 + Frame_Shift_Del DEL T T - TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 19 9084624 9084624 T - DEL MUC16 ENST00000397910 human ensembl 74_37 -1 known frame_shift_del c.7191 p.G2398fs 0.006 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 58 0 0.00 18 2 10.00 MYOM3 0 genome.wustl.edu 37 1 24392333 24392333 + Silent SNP C C T TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 1 24392333 24392333 C T SNP MYOM3 ENST00000329601 human ensembl 74_37 -1 known silent c.3588 p.K1196 0.065 NULL pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYOM3 HGNC ENSG00000142661 tier1 - - 39 0 0.00 32 9 21.95 NBEA 0 genome.wustl.edu 37 13 35758163 35758163 + Missense_Mutation SNP G G A TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 13 35758163 35758163 G A SNP NBEA ENST00000310336 human ensembl 74_37 +1 known missense c.4882 p.A1628T 1.000 NULL pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom - no_errors NBEA HGNC ENSG00000172915 tier1 - - 36 0 0.00 15 8 34.78 NCAM2 0 genome.wustl.edu 37 21 22710853 22710853 + Missense_Mutation SNP A A G TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 21 22710853 22710853 A G SNP NCAM2 ENST00000400546 human ensembl 74_37 +1 known missense c.1043 p.K348R 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom,prints_Neural_cell_adh - no_errors NCAM2 HGNC ENSG00000154654 tier1 - - 39 0 0.00 11 9 45.00 NDUFA9 0 genome.wustl.edu 37 12 4763607 4763607 + Nonsense_Mutation SNP C C T TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 12 4763607 4763607 C T SNP NDUFA9 ENST00000266544 human ensembl 74_37 +1 known nonsense c.199 p.R67* 1.000 pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_NmrA pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_NmrA - no_errors NDUFA9 HGNC ENSG00000139180 tier1 - - 118 0 0.00 78 13 14.13 NID1 0 genome.wustl.edu 37 1 236157045 236157045 + Silent SNP C C T TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 1 236157045 236157045 C T SNP NID1 ENST00000264187 human ensembl 74_37 -1 known silent c.2655 p.A885 0.013 pfam_Thyroglobulin_1,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1 pfam_G2_nidogen/fibulin_G2F,pfam_LDLR_classB_rpt,pfam_Nidogen_extracell_dom,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd_dom,superfamily_GFP,superfamily_Thyroglobulin_1,smart_Nidogen_extracell_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,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 tier1 - - 23 0 0.00 9 7 43.75 NLRC3 0 genome.wustl.edu 37 16 3614337 3614337 + Missense_Mutation SNP C C T TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 16 3614337 3614337 C T SNP NLRC3 ENST00000448023 human ensembl 74_37 -1 known missense c.742 p.V248I 0.000 superfamily_P-loop_NTPase,pfscan_NACHT_NTPase superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase - no_errors NLRC3 HGNC ENSG00000167984 tier1 - - 20 0 0.00 16 9 36.00 NME5 0 genome.wustl.edu 37 5 137451430 137451430 + Silent SNP C C T TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 5 137451430 137451430 C T SNP NME5 ENST00000265191 human ensembl 74_37 -1 known silent c.579 p.L193 0.976 pfam_Dpy-30_motif,pirsf_NDK_H5 pfam_Nucleoside_diP_kinase,pfam_Dpy-30_motif,superfamily_Nucleoside_diP_kinase,smart_Nucleoside_diP_kinase,pirsf_NDK_H5,prints_Nucleoside_diP_kinase - no_errors NME5 HGNC ENSG00000112981 tier1 - - 50 0 0.00 20 19 48.72 NMNAT2 0 genome.wustl.edu 37 1 183255852 183255852 + Silent SNP G G A TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 1 183255852 183255852 G A SNP NMNAT2 ENST00000287713 human ensembl 74_37 -1 known silent c.393 p.N131 0.638 pfam_Cyt_trans-like pfam_Cyt_trans-like - no_errors NMNAT2 HGNC ENSG00000157064 tier1 - - 74 0 0.00 32 8 20.00 NOL11 0 genome.wustl.edu 37 17 65717632 65717632 + Nonsense_Mutation SNP G G T TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 17 65717632 65717632 G T SNP NOL11 ENST00000253247 human ensembl 74_37 +1 known nonsense c.451 p.E151* 1.000 NULL pfam_NUC205 - no_errors NOL11 HGNC ENSG00000130935 tier1 - - 93 0 0.00 67 20 22.73 OLFML2B 0 genome.wustl.edu 37 1 161953551 161953551 + Nonsense_Mutation SNP G G A TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 1 161953551 161953551 G A SNP OLFML2B ENST00000294794 human ensembl 74_37 -1 known nonsense c.2167 p.Q723* 1.000 pfam_Olfac-like,superfamily_NA-bd_OB-fold,smart_Olfac-like,pfscan_Olfac-like pfam_Olfac-like,superfamily_NA-bd_OB-fold,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFML2B HGNC ENSG00000162745 tier1 - - 229 0 0.00 126 22 14.86 OPHN1 0 genome.wustl.edu 37 X 67502908 67502908 + Missense_Mutation SNP C C A TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 X 67502908 67502908 C A SNP OPHN1 ENST00000355520 human ensembl 74_37 -1 known missense c.302 p.R101M 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors OPHN1 HGNC ENSG00000079482 tier1 - - 30 0 0.00 36 8 18.18 OR2B6 0 genome.wustl.edu 37 6 27925182 27925182 + Missense_Mutation SNP T T C TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 6 27925182 27925182 T C SNP OR2B6 ENST00000244623 human ensembl 74_37 +1 known missense c.164 p.L55P 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2B6 HGNC ENSG00000124657 tier1 - - 167 0 0.00 151 26 14.61 OR4N4 0 genome.wustl.edu 37 15 22382957 22382957 + Missense_Mutation SNP T T C TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 15 22382957 22382957 T C SNP OR4N4 ENST00000328795 human ensembl 74_37 +1 known missense c.485 p.L162P 0.005 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4N4 HGNC ENSG00000183706 tier1 - - 266 0 0.00 195 27 12.16 PABPN1 0 genome.wustl.edu 37 14 23792231 23792233 + In_Frame_Del DEL GAG GAG - TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 14 23792231 23792233 GAG - DEL PABPN1 ENST00000216727 human ensembl 74_37 +1 known in_frame_del c.490_492 p.E165in_frame_del 1.000:1.000:0.935 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors PABPN1 HGNC ENSG00000100836 tier1 120 0 0.00 84 18 17.65 PAPPA2 0 genome.wustl.edu 37 1 176740272 176740272 + Missense_Mutation SNP A A T TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 1 176740272 176740272 A T SNP PAPPA2 ENST00000367662 human ensembl 74_37 +1 known missense c.4671 p.K1557N 0.960 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA2 HGNC ENSG00000116183 tier1 - - 45 0 0.00 44 5 10.20 PAQR4 0 genome.wustl.edu 37 16 3021825 3021825 + Missense_Mutation SNP T T G TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 16 3021825 3021825 T G SNP PAQR4 ENST00000318782 human ensembl 74_37 +1 known missense c.698 p.F233C 1.000 pfam_HlyIII-related pfam_HlyIII-related - no_errors PAQR4 HGNC ENSG00000162073 tier1 - - 61 0 0.00 40 17 29.82 PASD1 0 genome.wustl.edu 37 X 150789469 150789469 + Missense_Mutation SNP A A C TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 X 150789469 150789469 A C SNP PASD1 ENST00000370357 human ensembl 74_37 +1 known missense c.275 p.K92T 0.000 superfamily_PAS,smart_PAS,pfscan_PAS superfamily_PAS,smart_PAS,pfscan_PAS - no_errors PASD1 HGNC ENSG00000166049 tier1 - - 103 0 0.00 38 52 57.78 PAX6 0 genome.wustl.edu 37 11 31823145 31823145 + Silent SNP C C A TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 11 31823145 31823145 C A SNP PAX6 ENST00000379107 human ensembl 74_37 -1 known silent c.363 p.L121 1.000 pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom pfam_Paired_dom,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeobox_dom,prints_Paired_dom,pfscan_Homeobox_dom,pfscan_Paired_dom - no_errors PAX6 HGNC ENSG00000007372 tier1 - - 122 0 0.00 82 41 33.33 PCDH15 0 genome.wustl.edu 37 10 55570438 55570438 + Splice_Site SNP T T G TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 10 55570438 55570438 T G SNP PCDH15 ENST00000414778 human ensembl 74_37 -1 known splice_site c.4374-2 e33-2 1.000 - - - no_errors PCDH15 HGNC ENSG00000150275 tier1 - - 72 0 0.00 31 13 29.55 PCDH15 0 genome.wustl.edu 37 10 55826610 55826610 + Missense_Mutation SNP A A T TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 10 55826610 55826610 A T SNP PCDH15 ENST00000320301 human ensembl 74_37 -1 known missense c.2127 p.D709E 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 tier1 - - 75 0 0.00 40 24 37.50 PCDHGA8 0 genome.wustl.edu 37 5 140774033 140774033 + Missense_Mutation SNP C C A TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 5 140774033 140774033 C A SNP PCDHGA8 ENST00000398604 human ensembl 74_37 +1 known missense c.1653 p.F551L 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA8 HGNC ENSG00000253767 tier1 - - 208 0 0.00 68 78 53.42 PCLO 0 genome.wustl.edu 37 7 82595506 82595506 + Missense_Mutation SNP G G C TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 7 82595506 82595506 G C SNP PCLO ENST00000333891 human ensembl 74_37 -1 known missense c.3598 p.L1200V 0.000 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 tier1 - - 134 0 0.00 87 22 20.18 PFKFB4 0 genome.wustl.edu 37 3 48573837 48573837 + Missense_Mutation SNP G G A TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 3 48573837 48573837 G A SNP PFKFB4 ENST00000232375 human ensembl 74_37 -1 known missense c.692 p.A231V 0.003 pfam_6Phosfructo_kin,superfamily_P-loop_NTPase,pirsf_Bifunct_6PFK/fruc_bisP_Ptase,prints_6Pfruct_kin pfam_6Phosfructo_kin,pfam_His_Pase_superF_clade-1,superfamily_P-loop_NTPase,smart_His_Pase_superF_clade-1,pirsf_Bifunct_6PFK/fruc_bisP_Ptase,prints_6Pfruct_kin - no_errors PFKFB4 HGNC ENSG00000114268 tier1 - - 139 0 0.00 46 48 51.06 PIKFYVE 0 genome.wustl.edu 37 2 209185082 209185082 + Missense_Mutation SNP A A C TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 2 209185082 209185082 A C SNP PIKFYVE ENST00000264380 human ensembl 74_37 +1 known missense c.2189 p.Q730P 1.000 pfam_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom pfam_PInositol-4-P-5-kinase_core,pfam_Cpn60/TCP-1,pfam_DEP_dom,pfam_Znf_FYVE,superfamily_GroEL-like_apical_dom,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,smart_DEP_dom,smart_PInositol-4P-5-kinase_core_sub,pfscan_DEP_dom,pfscan_Znf_FYVE-rel - no_errors PIKFYVE HGNC ENSG00000115020 tier1 - - 117 0 0.00 78 29 27.10 PLXNA3 0 genome.wustl.edu 37 X 153692762 153692762 + Missense_Mutation SNP C C T TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 X 153692762 153692762 C T SNP PLXNA3 ENST00000369682 human ensembl 74_37 +1 known missense c.1846 p.R616W 0.974 NULL pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA3 HGNC ENSG00000130827 tier1 - - 109 0 0.00 79 14 15.05 PPP1R21 0 genome.wustl.edu 37 2 48701835 48701835 + Missense_Mutation SNP T T C TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 2 48701835 48701835 T C SNP PPP1R21 ENST00000294952 human ensembl 74_37 +1 known missense c.1102 p.C368R 1.000 pfam_KLRAQ/TTKRSYEDQ_C pfam_KLRAQ/TTKRSYEDQ_C,pfam_Unchr_KLRAQ/TTKRSYEDQ_N,superfamily_Ferritin-like_SF - no_errors PPP1R21 HGNC ENSG00000162869 tier1 - - 129 0 0.00 101 33 24.63 PRAMEF11 0 genome.wustl.edu 37 1 12888371 12888371 + Missense_Mutation SNP T T G TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 1 12888371 12888371 T G SNP PRAMEF11 ENST00000535591 human ensembl 74_37 -1 known missense c.153 p.Q51H 0.000 NULL NULL - no_errors PRAMEF11 HGNC ENSG00000204513 tier1 rs200394590 - 26 0 0.00 12 3 20.00 PRKCB 0 genome.wustl.edu 37 16 24183670 24183670 + Missense_Mutation SNP A A G TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 16 24183670 24183670 A G SNP PRKCB ENST00000303531 human ensembl 74_37 +1 known missense c.1319 p.E440G 1.000 pfam_Prot_kinase_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_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd,prints_C2_dom - no_errors PRKCB HGNC ENSG00000166501 tier1 - - 42 0 0.00 27 11 28.95 PRKDC 0 genome.wustl.edu 37 8 48711778 48711778 + Silent SNP A A G TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 8 48711778 48711778 A G SNP PRKDC ENST00000314191 human ensembl 74_37 -1 known silent c.10287 p.N3429 0.000 pfam_PIK-rel_kinase_FAT,pfscan_PIK_FAT pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,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 PRKDC HGNC ENSG00000253729 tier1 - - 58 0 0.00 41 19 31.67 PROM2 0 genome.wustl.edu 37 2 95953961 95953961 + Silent SNP G G C TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 2 95953961 95953961 G C SNP PROM2 ENST00000317620 human ensembl 74_37 +1 known silent c.2247 p.V749 1.000 pfam_Prominin pfam_Prominin - no_errors PROM2 HGNC ENSG00000155066 tier1 - - 71 0 0.00 50 17 25.37 PRSS16 0 genome.wustl.edu 37 6 27222906 27222906 + Missense_Mutation SNP G G A TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 6 27222906 27222906 G A SNP PRSS16 ENST00000230582 human ensembl 74_37 +1 known missense c.1472 p.R491H 1.000 pfam_Peptidase_S28 pfam_Peptidase_S28 - no_errors PRSS16 HGNC ENSG00000112812 tier1 - - 88 0 0.00 38 43 53.09 RAB3GAP2 0 genome.wustl.edu 37 1 220330778 220330778 + Missense_Mutation SNP G G A TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 1 220330778 220330778 G A SNP RAB3GAP2 ENST00000358951 human ensembl 74_37 -1 known missense c.3389 p.A1130V 0.902 NULL superfamily_WD40_repeat_dom - no_errors RAB3GAP2 HGNC ENSG00000118873 tier1 - - 114 0 0.00 52 32 38.10 RAI1 0 genome.wustl.edu 37 17 17699993 17699995 + In_Frame_Del DEL GCA GCA - TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 GCA GCA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 17 17699993 17699995 GCA - DEL RAI1 ENST00000353383 human ensembl 74_37 +1 known in_frame_del c.3731_3733 p.S1248in_frame_del 0.003:0.000:0.000 NULL smart_Znf_PHD - no_errors RAI1 HGNC ENSG00000108557 tier1 36 0 0.00 38 2 5.00 RBMX2 0 genome.wustl.edu 37 X 129546642 129546642 + Silent SNP G G A TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 X 129546642 129546642 G A SNP RBMX2 ENST00000305536 human ensembl 74_37 +1 known silent c.789 p.K263 0.030 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBMX2 HGNC ENSG00000134597 tier1 - - 70 0 0.00 27 17 38.64 RGPD4 0 genome.wustl.edu 37 2 108488005 108488005 + Missense_Mutation SNP T T C TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 2 108488005 108488005 T C SNP RGPD4 ENST00000354986 human ensembl 74_37 +1 known missense c.3545 p.L1182P 1.000 NULL pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD4 HGNC ENSG00000196862 tier1 - - 26 0 0.00 17 10 37.04 RGS10 0 genome.wustl.edu 37 10 121259626 121259626 + Nonstop_Mutation SNP C C A TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 10 121259626 121259626 C A SNP RGS10 ENST00000369103 human ensembl 74_37 -1 known nonstop c.545 p.*182L 1.000 NULL pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS10 HGNC ENSG00000148908 tier1 - - 116 0 0.00 72 42 36.84 ROBO1 0 genome.wustl.edu 37 3 78735027 78735027 + Missense_Mutation SNP C C A TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 3 78735027 78735027 C A SNP ROBO1 ENST00000464233 human ensembl 74_37 -1 known missense c.1211 p.R404L 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors ROBO1 HGNC ENSG00000169855 tier1 - - 16 0 0.00 4 6 60.00 ROBO2 0 genome.wustl.edu 37 3 77623728 77623728 + Missense_Mutation SNP T T C TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 3 77623728 77623728 T C SNP ROBO2 ENST00000461745 human ensembl 74_37 +1 known missense c.2050 p.W684R 0.999 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors ROBO2 HGNC ENSG00000185008 tier1 - - 90 0 0.00 39 33 45.83 RPTOR 0 genome.wustl.edu 37 17 78704480 78704480 + Missense_Mutation SNP G G A TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 17 78704480 78704480 G A SNP RPTOR ENST00000306801 human ensembl 74_37 +1 known missense c.628 p.A210T 0.995 NULL pfam_HEAT,pfam_WD40_repeat,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom,prints_Raptor - no_errors RPTOR HGNC ENSG00000141564 tier1 - - 79 0 0.00 55 11 16.42 RUFY2 0 genome.wustl.edu 37 10 70156583 70156583 + Frame_Shift_Del DEL T T - TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 10 70156583 70156583 T - DEL RUFY2 ENST00000388768 human ensembl 74_37 -1 known frame_shift_del c.457 p.M153fs 0.996 pfam_Run,smart_Run,pfscan_Run pfam_Run,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Run,smart_Znf_FYVE,pfscan_Run,pfscan_Znf_FYVE-rel - no_errors RUFY2 HGNC ENSG00000204130 tier1 54 0 0.00 57 8 12.31 SACS 0 genome.wustl.edu 37 13 23904755 23904755 + Silent SNP G G A TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 13 23904755 23904755 G A SNP SACS ENST00000382292 human ensembl 74_37 -1 known silent c.13260 p.C4420 0.741 NULL pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup - no_errors SACS HGNC ENSG00000151835 tier1 - - 137 0 0.00 70 43 38.05 SAMD9L 0 genome.wustl.edu 37 7 92761763 92761764 + Frame_Shift_Ins INS - - T TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 7 92761763 92761764 - T INS SAMD9L ENST00000318238 human ensembl 74_37 -1 known frame_shift_ins c.3522_3521 p.N1174fs 0.096:0.120 NULL superfamily_SAM/pointed,superfamily_P-loop_NTPase,pfscan_SAM - no_errors SAMD9L HGNC ENSG00000177409 tier1 296 0 0.00 275 77 21.88 SCAF1 0 genome.wustl.edu 37 19 50158041 50158042 + Frame_Shift_Ins INS - - C TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 19 50158041 50158042 - C INS SCAF1 ENST00000360565 human ensembl 74_37 +1 known frame_shift_ins c.3532_3533 p.T1181fs 0.839:0.934 NULL NULL - no_errors SCAF1 HGNC ENSG00000126461 tier1 44 0 0.00 27 3 10.00 SCO2 0 genome.wustl.edu 37 22 50962558 50962558 + Missense_Mutation SNP G G A TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 22 50962558 50962558 G A SNP SCO2 ENST00000252785 human ensembl 74_37 -1 known missense c.283 p.R95C 0.970 pfam_SCO1/SenC,pirsf_Synth_of_cyt-c-oxidase_Sco1/2 pfam_SCO1/SenC,superfamily_Thioredoxin-like_fold,pirsf_Synth_of_cyt-c-oxidase_Sco1/2 - no_errors SCO2 HGNC ENSG00000130489 tier1 - - 53 0 0.00 15 11 42.31 SEMA3D 0 genome.wustl.edu 37 7 84751204 84751204 + Missense_Mutation SNP T T G TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 7 84751204 84751204 T G SNP SEMA3D ENST00000284136 human ensembl 74_37 -1 known missense c.4 p.N2H 0.997 NULL pfam_Semap_dom,pfam_Ig_V-set,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA3D HGNC ENSG00000153993 tier1 - - 42 0 0.00 36 7 16.28 SEMA3D 0 genome.wustl.edu 37 7 84751205 84751205 + Missense_Mutation SNP C C G TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 7 84751205 84751205 C G SNP SEMA3D ENST00000284136 human ensembl 74_37 -1 known missense c.3 p.M1I 1.000 NULL pfam_Semap_dom,pfam_Ig_V-set,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA3D HGNC ENSG00000153993 tier1 - - 41 0 0.00 36 8 18.18 SFRP4 0 genome.wustl.edu 37 7 37955825 37955825 + Silent SNP G G A TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 7 37955825 37955825 G A SNP SFRP4 ENST00000436072 human ensembl 74_37 -1 known silent c.315 p.R105 1.000 pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom pfam_Frizzled_dom,pfam_Netrin_module_non-TIMP,superfamily_Frizzled_dom,superfamily_TIMP-like_OB-fold,smart_Frizzled_dom,smart_Netrin_module_non-TIMP,pfscan_Frizzled_dom,pfscan_Netrin_domain - no_errors SFRP4 HGNC ENSG00000106483 41 0 0.00 32 3 8.57 SLC22A23 0 genome.wustl.edu 37 6 3298380 3298380 + Silent SNP G G A TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 6 3298380 3298380 G A SNP SLC22A23 ENST00000406686 human ensembl 74_37 -1 known silent c.1155 p.H385 1.000 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A23 HGNC ENSG00000137266 tier1 - - 112 0 0.00 81 14 14.74 SLC7A4 0 genome.wustl.edu 37 22 21384181 21384181 + Missense_Mutation SNP G G A TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 22 21384181 21384181 G A SNP SLC7A4 ENST00000382932 human ensembl 74_37 -1 known missense c.1442 p.A481V 0.963 pirsf_AA/rel_permease1 pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1 - no_errors SLC7A4 HGNC ENSG00000099960 tier1 - - 33 0 0.00 22 6 21.43 SLCO1C1 0 genome.wustl.edu 37 12 20905343 20905343 + Missense_Mutation SNP A A C TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 12 20905343 20905343 A C SNP SLCO1C1 ENST00000381552 human ensembl 74_37 +1 known missense c.2123 p.K708T 0.201 NULL pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter - no_errors SLCO1C1 HGNC ENSG00000139155 tier1 - - 36 0 0.00 27 6 18.18 SMARCA4 0 genome.wustl.edu 37 19 11132513 11132513 + Missense_Mutation SNP C C T TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 19 11132513 11132513 C T SNP SMARCA4 ENST00000358026 human ensembl 74_37 +1 known missense c.2729 p.T910M 0.999 pfam_SNF2_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,prints_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain - no_errors SMARCA4 HGNC ENSG00000127616 tier1 - - 48 0 0.00 14 7 33.33 SMC1B 0 genome.wustl.edu 37 22 45755829 45755829 + Silent SNP C C A TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 22 45755829 45755829 C A SNP SMC1B ENST00000357450 human ensembl 74_37 -1 known silent c.2718 p.G906 0.093 pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase,superfamily_t-SNARE pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,superfamily_t-SNARE,smart_SMC_hinge - no_errors SMC1B HGNC ENSG00000077935 tier1 - - 64 0 0.00 27 10 27.03 SPTBN2 0 genome.wustl.edu 37 11 66456566 66456566 + Splice_Site DEL C C - TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 11 66456566 66456566 C - DEL SPTBN2 ENST00000309996 human ensembl 74_37 -1 known splice_site_del c.6034+1 e28+1 1.000 - - - no_errors SPTBN2 HGNC ENSG00000173898 tier1 33 0 0.00 10 2 16.67 SPTBN4 0 genome.wustl.edu 37 19 41062937 41062937 + Silent SNP G G A TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 19 41062937 41062937 G A SNP SPTBN4 ENST00000352632 human ensembl 74_37 +1 known silent c.5298 p.Q1766 1.000 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN4 HGNC ENSG00000160460 tier1 - - 47 0 0.00 21 15 41.67 STIL 0 genome.wustl.edu 37 1 47746465 47746465 + Silent SNP G G A TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 1 47746465 47746465 G A SNP STIL ENST00000371877 human ensembl 74_37 -1 known silent c.1665 p.P555 0.001 NULL NULL - no_errors STIL HGNC ENSG00000123473 tier1 - - 154 0 0.00 96 20 17.24 TAF8 0 genome.wustl.edu 37 6 42036293 42036293 + Missense_Mutation SNP C C T TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 6 42036293 42036293 C T SNP TAF8 ENST00000372982 human ensembl 74_37 +1 known missense c.728 p.S243L 1.000 NULL pfam_BTP,pfam_TFIID_su8_C,superfamily_Histone-fold,smart_BTP - no_errors TAF8 HGNC ENSG00000137413 tier1 - - 143 0 0.00 103 19 15.57 TBC1D29 0 genome.wustl.edu 37 17 28890361 28890361 + Missense_Mutation SNP G G A TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 17 28890361 28890361 G A SNP TBC1D29 ENST00000579181 human ensembl 74_37 +1 known missense c.371 p.R124Q 0.562 NULL superfamily_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D29 HGNC ENSG00000266733 34 0 0.00 31 6 16.22 TCEB3B 0 genome.wustl.edu 37 18 44560270 44560270 + Missense_Mutation SNP T T C TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 18 44560270 44560270 T C SNP TCEB3B ENST00000332567 human ensembl 74_37 -1 known missense c.1366 p.S456G 0.000 NULL pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub - no_errors TCEB3B HGNC ENSG00000206181 tier1 - - 135 0 0.00 46 27 36.99 TEX11 0 genome.wustl.edu 37 X 69849512 69849512 + Silent SNP C C T TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 X 69849512 69849512 C T SNP TEX11 ENST00000344304 human ensembl 74_37 -1 known silent c.1602 p.E534 0.000 NULL pfam_Meiosis_specific_SPO22,smart_TPR_repeat - no_errors TEX11 HGNC ENSG00000120498 tier1 - - 104 0 0.00 41 25 37.88 TMEM184A 0 genome.wustl.edu 37 7 1589551 1589551 + Missense_Mutation SNP C C T TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 7 1589551 1589551 C T SNP TMEM184A ENST00000297477 human ensembl 74_37 -1 known missense c.583 p.V195I 0.068 pfam_Ost-alpha pfam_Ost-alpha - no_errors TMEM184A HGNC ENSG00000164855 tier1 - - 74 0 0.00 39 10 20.41 TP53 0 genome.wustl.edu 37 17 7578406 7578406 + Missense_Mutation SNP C C T TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 17 7578406 7578406 C T SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.524 p.R175H 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor 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 tier1 rs28934578 - 74 0 0.00 43 27 38.57 TRIM3 0 genome.wustl.edu 37 11 6478936 6478936 + Missense_Mutation SNP C C T TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 11 6478936 6478936 C T SNP TRIM3 ENST00000345851 human ensembl 74_37 -1 known missense c.505 p.V169M 0.993 smart_Bbox_C pfam_NHL_repeat,pfam_Filamin/ABP280_repeat-like,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_Ig_E-set,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Filamin,pfscan_Filamin/ABP280_repeat-like,pfscan_NHL_repeat_subgr,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM3 HGNC ENSG00000110171 tier1 - - 88 0 0.00 44 21 32.31 TRPA1 0 genome.wustl.edu 37 8 72964909 72964909 + Missense_Mutation SNP T T C TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 8 72964909 72964909 T C SNP TRPA1 ENST00000262209 human ensembl 74_37 -1 known missense c.1736 p.Q579R 0.466 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors TRPA1 HGNC ENSG00000104321 tier1 - - 101 0 0.00 60 26 30.23 TRPC6 0 genome.wustl.edu 37 11 101347234 101347234 + Missense_Mutation SNP C C G TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 11 101347234 101347234 C G SNP TRPC6 ENST00000344327 human ensembl 74_37 -1 known missense c.1542 p.W514C 1.000 pfam_Ion_trans_dom,pfam_PKD1_2_channel,tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,prints_TRPC6_channel,prints_TRPC_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel - no_errors TRPC6 HGNC ENSG00000137672 tier1 - - 77 0 0.00 27 17 38.64 TRPV4 0 genome.wustl.edu 37 12 110238465 110238465 + Missense_Mutation SNP G G A TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 12 110238465 110238465 G A SNP TRPV4 ENST00000261740 human ensembl 74_37 -1 known missense c.811 p.R271C 1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel,prints_TRPV4_channel,tigrfam_TRP_channel - no_errors TRPV4 HGNC ENSG00000111199 tier1 - - 56 0 0.00 27 6 17.65 UBQLN2 0 genome.wustl.edu 37 X 56590796 56590796 + Missense_Mutation SNP T T G TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 X 56590796 56590796 T G SNP UBQLN2 ENST00000338222 human ensembl 74_37 +1 known missense c.490 p.F164V 1.000 NULL pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,pfam_UBA/Ts_N,superfamily_UBA-like,superfamily_ARM-type_fold,superfamily_XPC-bd,smart_Ubiquitin_dom,smart_STI1_HS-bd,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup - no_errors UBQLN2 HGNC ENSG00000188021 tier1 - - 41 0 0.00 30 8 21.05 VCPKMT 0 genome.wustl.edu 37 14 50583203 50583203 + Missense_Mutation SNP C C T TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 14 50583203 50583203 C T SNP VCPKMT ENST00000395860 human ensembl 74_37 -1 known missense c.68 p.R23Q 0.993 pfam_Nicotinamide_N-MeTfrase-like pfam_Nicotinamide_N-MeTfrase-like - no_errors VCPKMT HGNC ENSG00000100483 tier1 - - 30 0 0.00 19 13 40.62 WASH3P 0 genome.wustl.edu 37 15 102515257 102515257 + RNA SNP C C T TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 15 102515257 102515257 C T SNP WASH3P ENST00000557932 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors WASH3P HGNC ENSG00000185596 tier1 rs74969461 - 10 0 0.00 2 6 75.00 WDR49 0 genome.wustl.edu 37 3 167217995 167217995 + Missense_Mutation SNP T T C TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 3 167217995 167217995 T C SNP WDR49 ENST00000308378 human ensembl 74_37 -1 known missense c.1921 p.K641E 0.042 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR49 HGNC ENSG00000174776 tier1 - - 221 0 0.00 177 65 26.86 XPO1 0 genome.wustl.edu 37 2 61726050 61726051 + Splice_Site INS - - A TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 2 61726050 61726051 - A INS XPO1 ENST00000401558 human ensembl 74_37 -1 known splice_site_ins c.591-3_591-2 e7-2 1.000:0.996 - - - no_errors XPO1 HGNC ENSG00000082898 tier1 33 0 0.00 17 3 15.00 ZAP70 0 genome.wustl.edu 37 2 98340791 98340791 + Silent SNP C C T TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 2 98340791 98340791 C T SNP ZAP70 ENST00000264972 human ensembl 74_37 +1 known silent c.292 p.L98 0.995 pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_SH2 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,superfamily_Kinase-like_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_SH2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors ZAP70 HGNC ENSG00000115085 15 0 0.00 23 3 11.54 ZFHX4 0 genome.wustl.edu 37 8 77775831 77775831 + Missense_Mutation SNP A A G TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 8 77775831 77775831 A G SNP ZFHX4 ENST00000521891 human ensembl 74_37 +1 known missense c.9881 p.E3294G 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 tier1 - - 39 0 0.00 26 10 27.78 ZFP30 0 genome.wustl.edu 37 19 38135593 38135593 + Silent SNP T T C TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 19 38135593 38135593 T C SNP ZFP30 ENST00000351218 human ensembl 74_37 -1 known silent c.54 p.E18 1.000 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZFP30 HGNC ENSG00000120784 tier1 - - 96 0 0.00 59 18 23.38 ZHX2 0 genome.wustl.edu 37 8 123965100 123965100 + Missense_Mutation SNP G G C TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 8 123965100 123965100 G C SNP ZHX2 ENST00000314393 human ensembl 74_37 +1 known missense c.1350 p.Q450H 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZHX2 HGNC ENSG00000178764 tier1 - - 44 0 0.00 38 12 24.00 ZIC5 0 genome.wustl.edu 37 13 100617631 100617631 + Silent SNP C C T TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 13 100617631 100617631 C T SNP ZIC5 ENST00000267294 human ensembl 74_37 -1 known silent c.1992 p.*664 0.997 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZIC5 HGNC ENSG00000139800 58 0 0.00 38 9 18.75 ZNF570 0 genome.wustl.edu 37 19 37975705 37975705 + Missense_Mutation SNP C C A TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 19 37975705 37975705 C A SNP ZNF570 ENST00000330173 human ensembl 74_37 +1 known missense c.1181 p.A394D 0.983 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 ZNF570 HGNC ENSG00000171827 tier1 - - 103 0 0.00 42 21 33.33 ZNF573 0 genome.wustl.edu 37 19 38230682 38230682 + Missense_Mutation SNP C C G TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 19 38230682 38230682 C G SNP ZNF573 ENST00000590414 human ensembl 74_37 -1 known missense c.709 p.E237Q 0.998 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 ZNF573 HGNC ENSG00000189144 tier1 - - 135 0 0.00 79 27 25.47 ZNF595 0 genome.wustl.edu 37 4 53210 53210 + RNA SNP G G C TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 4 53210 53210 G C SNP ZNF595 ENST00000339368 human ensembl 74_37 +1 known rna NULL NULL 0.008 - - - no_errors ZNF595 HGNC ENSG00000197701 tier1 - - 41 0 0.00 27 4 12.90 ZRANB3 0 genome.wustl.edu 37 2 136111101 136111101 + Missense_Mutation SNP G G A TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 2 136111101 136111101 G A SNP ZRANB3 ENST00000264159 human ensembl 74_37 -1 known missense c.278 p.P93L 1.000 pfam_SNF2_N,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_SNF2_N,pfam_Helicase_C,pfam_HNH,pfam_Znf_RanBP2,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Znf_RanBP2,smart_HNH_nuc,pfscan_Znf_RanBP2,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ZRANB3 HGNC ENSG00000121988 tier1 - - 37 0 0.00 36 9 20.00 ZSCAN32 0 genome.wustl.edu 37 16 3433705 3433705 + Missense_Mutation SNP T T C TCGA-IN-A7NT-01A-21D-A34U-08 TCGA-IN-A7NT-10A-01D-A34X-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9c7ea2ee-4472-4900-99f3-e17f3f7876d5 c7a887b2-e8ce-487e-813b-fb9f1fe36362 16 3433705 3433705 T C SNP ZSCAN32 ENST00000396846 human ensembl 74_37 -1 known missense c.1241 p.E414G 0.896 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN32 HGNC ENSG00000140987 tier1 - - 71 0 0.00 41 25 37.88