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 ABCC5 0 genome.wustl.edu 37 3 183669325 183669325 + Missense_Mutation SNP C C T TCGA-LN-A49P-01A-11D-A247-09 TCGA-LN-A49P-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b817460-a959-4426-b0e4-1ef0c5fa7a42 1909da38-51a6-4177-a899-14f1f61c0b69 3 183669325 183669325 C T SNP ABCC5 ENST00000334444 human ensembl 74_37 -1 known missense c.2848 p.E950K 0.996 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC5 HGNC ENSG00000114770 tier1 - - 40 0 0.00 41 9 18.00 AHNAK 0 genome.wustl.edu 37 11 62300523 62300523 + Missense_Mutation SNP G G A TCGA-LN-A49P-01A-11D-A247-09 TCGA-LN-A49P-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b817460-a959-4426-b0e4-1ef0c5fa7a42 1909da38-51a6-4177-a899-14f1f61c0b69 11 62300523 62300523 G A SNP AHNAK ENST00000378024 human ensembl 74_37 -1 known missense c.1366 p.P456S 0.023 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC ENSG00000124942 tier1 - - 25 0 0.00 10 26 72.22 ANKRD36C 0 genome.wustl.edu 37 2 96643871 96643871 + Silent SNP T T C TCGA-LN-A49P-01A-11D-A247-09 TCGA-LN-A49P-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b817460-a959-4426-b0e4-1ef0c5fa7a42 1909da38-51a6-4177-a899-14f1f61c0b69 2 96643871 96643871 T C SNP ANKRD36C ENST00000456556 human ensembl 74_37 -1 known silent c.798 p.P266 0.222 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD36C HGNC ENSG00000174501 51 0 0.00 68 4 5.56 AOC2 0 genome.wustl.edu 37 17 40997982 40997982 + Missense_Mutation SNP G G T TCGA-LN-A49P-01A-11D-A247-09 TCGA-LN-A49P-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b817460-a959-4426-b0e4-1ef0c5fa7a42 1909da38-51a6-4177-a899-14f1f61c0b69 17 40997982 40997982 G T SNP AOC2 ENST00000253799 human ensembl 74_37 +1 known missense c.1339 p.G447C 1.000 pfam_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_C,prints_Cu_amine_oxidase pfam_Cu_amine_oxidase_C,pfam_Cu_amine_oxidase_N3,pfam_Cu_amine_oxidase_N2,superfamily_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase - no_errors AOC2 HGNC ENSG00000131480 tier1 - - 50 0 0.00 60 4 6.25 AP1G1 0 genome.wustl.edu 37 16 71773198 71773198 + Silent SNP G G T TCGA-LN-A49P-01A-11D-A247-09 TCGA-LN-A49P-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b817460-a959-4426-b0e4-1ef0c5fa7a42 1909da38-51a6-4177-a899-14f1f61c0b69 16 71773198 71773198 G T SNP AP1G1 ENST00000433195 human ensembl 74_37 -1 known silent c.2115 p.S705 1.000 pirsf_AP1_complex_gsu pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP1_complex_gsu,pfscan_Clathrin_g-adaptin_app - no_errors AP1G1 HGNC ENSG00000166747 24 0 0.00 34 3 8.11 ARID1B 0 genome.wustl.edu 37 6 157469897 157469897 + Silent SNP A A T TCGA-LN-A49P-01A-11D-A247-09 TCGA-LN-A49P-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b817460-a959-4426-b0e4-1ef0c5fa7a42 1909da38-51a6-4177-a899-14f1f61c0b69 6 157469897 157469897 A T SNP ARID1B ENST00000367148 human ensembl 74_37 +1 known silent c.2652 p.G884 1.000 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1B HGNC ENSG00000049618 tier1 - - 62 0 0.00 56 24 30.00 ARMCX5 0 genome.wustl.edu 37 X 101858368 101858368 + Nonsense_Mutation SNP T T G TCGA-LN-A49P-01A-11D-A247-09 TCGA-LN-A49P-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b817460-a959-4426-b0e4-1ef0c5fa7a42 1909da38-51a6-4177-a899-14f1f61c0b69 X 101858368 101858368 T G SNP ARMCX5 ENST00000246174 human ensembl 74_37 +1 known nonsense c.1299 p.Y433* 0.051 pfam_ARM-rpt_dom,superfamily_ARM-type_fold pfam_ARM-rpt_dom,superfamily_ARM-type_fold - no_errors ARMCX5 HGNC ENSG00000125962 tier1 - - 43 0 0.00 45 78 63.41 ASXL1 0 genome.wustl.edu 37 20 31022250 31022250 + Missense_Mutation SNP A A T TCGA-LN-A49P-01A-11D-A247-09 TCGA-LN-A49P-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b817460-a959-4426-b0e4-1ef0c5fa7a42 1909da38-51a6-4177-a899-14f1f61c0b69 20 31022250 31022250 A T SNP ASXL1 ENST00000375687 human ensembl 74_37 +1 known missense c.1735 p.I579F 1.000 NULL NULL - no_errors ASXL1 HGNC ENSG00000171456 tier1 - - 43 0 0.00 67 11 14.10 ATP2C1 0 genome.wustl.edu 37 3 130698257 130698257 + Missense_Mutation SNP G G T TCGA-LN-A49P-01A-11D-A247-09 TCGA-LN-A49P-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b817460-a959-4426-b0e4-1ef0c5fa7a42 1909da38-51a6-4177-a899-14f1f61c0b69 3 130698257 130698257 G T SNP ATP2C1 ENST00000393221 human ensembl 74_37 +1 known missense c.1837 p.A613S 1.000 pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Ca-transp_PMR1 pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_PMR1,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2C1 HGNC ENSG00000017260 tier1 - - 50 0 0.00 67 4 5.56 C1orf56 0 genome.wustl.edu 37 1 151022913 151022913 + Splice_Site SNP G G T TCGA-LN-A49P-01A-11D-A247-09 TCGA-LN-A49P-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b817460-a959-4426-b0e4-1ef0c5fa7a42 1909da38-51a6-4177-a899-14f1f61c0b69 1 151022913 151022913 G T SNP C1orf56 ENST00000368926 human ensembl 74_37 +1 known splice_site c.1006-1 e2-1 0.932 - - - no_errors C1orf56 HGNC ENSG00000143443 66 0 0.00 53 3 5.36 C22orf34 0 genome.wustl.edu 37 22 49834744 49834744 + Missense_Mutation SNP C C T TCGA-LN-A49P-01A-11D-A247-09 TCGA-LN-A49P-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b817460-a959-4426-b0e4-1ef0c5fa7a42 1909da38-51a6-4177-a899-14f1f61c0b69 22 49834744 49834744 C T SNP C22orf34 ENST00000414287 human ensembl 74_37 -1 known missense c.173 p.R58Q 0.002 NULL NULL - no_errors C22orf34 HGNC ENSG00000188511 tier1 - - 44 0 0.00 77 17 18.09 CAD 0 genome.wustl.edu 37 2 27445849 27445849 + Missense_Mutation SNP C C G TCGA-LN-A49P-01A-11D-A247-09 TCGA-LN-A49P-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b817460-a959-4426-b0e4-1ef0c5fa7a42 1909da38-51a6-4177-a899-14f1f61c0b69 2 27445849 27445849 C G SNP CAD ENST00000264705 human ensembl 74_37 +1 known missense c.753 p.I251M 1.000 pfam_GATASE,tigrfam_CarbamoylP_synth_ssu pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_Asp/Orn_carbamoyltranf_P-bd,pfam_GATASE,pfam_Asp_carbamoyltransf_Asp/Orn-bd,pfam_CarbamoylP_synth_lsu_oligo,pfam_CarbamoylP_synth_lsu_N,pfam_ATP-grasp_carboxylate-amine,pfam_MGS-like_dom,pfam_Dala_Dala_lig_C,pfam_Amidohydro_1,superfamily_Asp/Orn_carbamoylTrfase,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_dom,superfamily_MGS-like_dom,superfamily_Metal-dep_hydrolase_composite,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,prints_Asp_carbamoyltransf,prints_Asp/Orn_carbamoylTrfase,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu,tigrfam_Asp_carbamoyltransf - no_errors CAD HGNC ENSG00000084774 tier1 - - 87 0 0.00 75 23 23.47 CENPF 0 genome.wustl.edu 37 1 214794199 214794199 + Missense_Mutation SNP T T G TCGA-LN-A49P-01A-11D-A247-09 TCGA-LN-A49P-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b817460-a959-4426-b0e4-1ef0c5fa7a42 1909da38-51a6-4177-a899-14f1f61c0b69 1 214794199 214794199 T G SNP CENPF ENST00000366955 human ensembl 74_37 +1 known missense c.775 p.L259V 0.000 pfam_Centromere_CenpF_N pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_CenpF/LEK1_Rb-prot-bd - no_errors CENPF HGNC ENSG00000117724 tier1 - - 25 0 0.00 28 10 26.32 CNTN2 0 genome.wustl.edu 37 1 205034965 205034965 + Missense_Mutation SNP G G T TCGA-LN-A49P-01A-11D-A247-09 TCGA-LN-A49P-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b817460-a959-4426-b0e4-1ef0c5fa7a42 1909da38-51a6-4177-a899-14f1f61c0b69 1 205034965 205034965 G T SNP CNTN2 ENST00000331830 human ensembl 74_37 +1 known missense c.1744 p.G582W 0.985 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,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_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN2 HGNC ENSG00000184144 55 0 0.00 76 4 5.00 CSMD3 0 genome.wustl.edu 37 8 113267492 113267492 + Missense_Mutation SNP G G A TCGA-LN-A49P-01A-11D-A247-09 TCGA-LN-A49P-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b817460-a959-4426-b0e4-1ef0c5fa7a42 1909da38-51a6-4177-a899-14f1f61c0b69 8 113267492 113267492 G A SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.10027 p.H3343Y 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 tier1 - - 50 0 0.00 55 15 21.43 CSNK1G2-AS1 0 genome.wustl.edu 37 19 1954417 1954417 + RNA DEL A A - TCGA-LN-A49P-01A-11D-A247-09 TCGA-LN-A49P-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b817460-a959-4426-b0e4-1ef0c5fa7a42 1909da38-51a6-4177-a899-14f1f61c0b69 19 1954417 1954417 A - DEL CSNK1G2-AS1 ENST00000314315 human ensembl 74_37 -1 known rna NULL NULL 0.006 - - - no_errors CSNK1G2-AS1 HGNC ENSG00000180846 tier1 13 0 0.00 1 2 66.67 CTNNA3 0 genome.wustl.edu 37 10 67680368 67680368 + Missense_Mutation SNP C C T TCGA-LN-A49P-01A-11D-A247-09 TCGA-LN-A49P-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b817460-a959-4426-b0e4-1ef0c5fa7a42 1909da38-51a6-4177-a899-14f1f61c0b69 10 67680368 67680368 C T SNP CTNNA3 ENST00000373744 human ensembl 74_37 -1 known missense c.2408 p.S803N 1.000 pfam_Vinculin/catenin,superfamily_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA3 HGNC ENSG00000183230 tier1 - - 53 0 0.00 48 9 15.79 DGKI 0 genome.wustl.edu 37 7 137206686 137206686 + Missense_Mutation SNP C C G TCGA-LN-A49P-01A-11D-A247-09 TCGA-LN-A49P-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b817460-a959-4426-b0e4-1ef0c5fa7a42 1909da38-51a6-4177-a899-14f1f61c0b69 7 137206686 137206686 C G SNP DGKI ENST00000288490 human ensembl 74_37 -1 known missense c.2174 p.R725T 1.000 NULL pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors DGKI HGNC ENSG00000157680 tier1 - - 41 0 0.00 53 11 17.19 DIAPH2 0 genome.wustl.edu 37 X 96212977 96212977 + Missense_Mutation SNP G G T TCGA-LN-A49P-01A-11D-A247-09 TCGA-LN-A49P-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b817460-a959-4426-b0e4-1ef0c5fa7a42 1909da38-51a6-4177-a899-14f1f61c0b69 X 96212977 96212977 G T SNP DIAPH2 ENST00000324765 human ensembl 74_37 +1 known missense c.1765 p.G589W 0.000 NULL pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_Drf_DAD,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors DIAPH2 HGNC ENSG00000147202 31 0 0.00 58 4 6.45 DMTF1 0 genome.wustl.edu 37 7 86815159 86815162 + Frame_Shift_Del DEL ATGT ATGT - TCGA-LN-A49P-01A-11D-A247-09 TCGA-LN-A49P-10A-01D-A247-09 ATGT ATGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b817460-a959-4426-b0e4-1ef0c5fa7a42 1909da38-51a6-4177-a899-14f1f61c0b69 7 86815159 86815162 ATGT - DEL DMTF1 ENST00000331242 human ensembl 74_37 +1 known frame_shift_del c.1064_1067 p.D355fs 1.000:0.998:1.000:1.000 superfamily_Homeodomain-like,smart_SANT/Myb pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors DMTF1 HGNC ENSG00000135164 tier1 108 0 0.00 112 47 29.56 DNAH7 0 genome.wustl.edu 37 2 196729159 196729159 + Missense_Mutation SNP G G C TCGA-LN-A49P-01A-11D-A247-09 TCGA-LN-A49P-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b817460-a959-4426-b0e4-1ef0c5fa7a42 1909da38-51a6-4177-a899-14f1f61c0b69 2 196729159 196729159 G C SNP DNAH7 ENST00000312428 human ensembl 74_37 -1 known missense c.7220 p.S2407C 1.000 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom - no_errors DNAH7 HGNC ENSG00000118997 tier1 - - 36 0 0.00 42 15 26.32 DOCK2 0 genome.wustl.edu 37 5 169507274 169507274 + Missense_Mutation SNP G G A TCGA-LN-A49P-01A-11D-A247-09 TCGA-LN-A49P-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b817460-a959-4426-b0e4-1ef0c5fa7a42 1909da38-51a6-4177-a899-14f1f61c0b69 5 169507274 169507274 G A SNP DOCK2 ENST00000256935 human ensembl 74_37 +1 known missense c.5274 p.M1758I 1.000 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c-like_dom,superfamily_ARM-type_fold,superfamily_Ferritin-like_SF,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK2 HGNC ENSG00000134516 tier1 - - 59 0 0.00 78 8 9.30 DPF3 0 genome.wustl.edu 37 14 73137344 73137345 + RNA DEL TC TC - TCGA-LN-A49P-01A-11D-A247-09 TCGA-LN-A49P-10A-01D-A247-09 TC TC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b817460-a959-4426-b0e4-1ef0c5fa7a42 1909da38-51a6-4177-a899-14f1f61c0b69 14 73137344 73137345 TC - DEL DPF3 ENST00000557704 human ensembl 74_37 -1 known rna NULL NULL 0.959:0.966 - - - no_errors DPF3 HGNC ENSG00000205683 tier1 43 0 0.00 46 7 13.21 EFCAB1 0 genome.wustl.edu 37 8 49643126 49643126 + Nonsense_Mutation SNP G G A TCGA-LN-A49P-01A-11D-A247-09 TCGA-LN-A49P-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b817460-a959-4426-b0e4-1ef0c5fa7a42 1909da38-51a6-4177-a899-14f1f61c0b69 8 49643126 49643126 G A SNP EFCAB1 ENST00000262103 human ensembl 74_37 -1 known nonsense c.292 p.R98* 1.000 pfscan_EF_hand_dom,prints_Recoverin pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin - no_errors EFCAB1 HGNC ENSG00000034239 23 0 0.00 38 4 9.52 EML6 0 genome.wustl.edu 37 2 55091009 55091009 + Missense_Mutation SNP A A G TCGA-LN-A49P-01A-11D-A247-09 TCGA-LN-A49P-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b817460-a959-4426-b0e4-1ef0c5fa7a42 1909da38-51a6-4177-a899-14f1f61c0b69 2 55091009 55091009 A G SNP EML6 ENST00000356458 human ensembl 74_37 +1 novel missense c.1915 p.I639V 1.000 NULL pfam_WD40_repeat,pfam_HELP,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML6 HGNC ENSG00000214595 tier1 - - 38 0 0.00 63 9 12.50 ENOX1 0 genome.wustl.edu 37 13 43986175 43986175 + Missense_Mutation SNP C C T TCGA-LN-A49P-01A-11D-A247-09 TCGA-LN-A49P-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b817460-a959-4426-b0e4-1ef0c5fa7a42 1909da38-51a6-4177-a899-14f1f61c0b69 13 43986175 43986175 C T SNP ENOX1 ENST00000261488 human ensembl 74_37 -1 known missense c.85 p.G29R 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors ENOX1 HGNC ENSG00000120658 tier1 - - 70 0 0.00 79 16 16.84 ENSG00000169203 0 genome.wustl.edu 37 16 29496887 29496887 + Missense_Mutation SNP G G T TCGA-LN-A49P-01A-11D-A247-09 TCGA-LN-A49P-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b817460-a959-4426-b0e4-1ef0c5fa7a42 1909da38-51a6-4177-a899-14f1f61c0b69 16 29496887 29496887 G T SNP ENSG00000169203 ENST00000354563 human ensembl 74_37 -1 known missense c.388 p.P130T 0.002 NULL NULL - no_errors RP11-231C14.4 Clone_based_vega_gene ENSG00000169203 tier1 - - 13 0 0.00 10 9 47.37 ENSG00000188971 0 genome.wustl.edu 37 2 69691326 69691327 + RNA INS - - AAC TCGA-LN-A49P-01A-11D-A247-09 TCGA-LN-A49P-10A-01D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b817460-a959-4426-b0e4-1ef0c5fa7a42 1909da38-51a6-4177-a899-14f1f61c0b69 2 69691326 69691327 - AAC INS ENSG00000188971 ENST00000606389 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors RP11-427H3.3 Clone_based_vega_gene ENSG00000188971 tier1 8 0 0.00 14 5 26.32 ENSG00000212857 0 genome.wustl.edu 37 GL000212.1 65796 65796 + Silent SNP G G A TCGA-LN-A49P-01A-11D-A247-09 TCGA-LN-A49P-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b817460-a959-4426-b0e4-1ef0c5fa7a42 1909da38-51a6-4177-a899-14f1f61c0b69 GL000212.1 65796 65796 G A SNP ENSG00000212857 ENST00000391545 human ensembl 74_37 +1 known silent c.1545 p.S515 NULL NULL NULL - no_errors AL356585.1 Clone_based_ensembl_gene ENSG00000212857 tier1 - - 94 0 0.00 209 20 8.73 ENSG00000212857 0 genome.wustl.edu 37 GL000212.1 65797 65797 + Missense_Mutation SNP C C G TCGA-LN-A49P-01A-11D-A247-09 TCGA-LN-A49P-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b817460-a959-4426-b0e4-1ef0c5fa7a42 1909da38-51a6-4177-a899-14f1f61c0b69 GL000212.1 65797 65797 C G SNP ENSG00000212857 ENST00000391545 human ensembl 74_37 +1 known missense c.1546 p.L516V NULL NULL NULL - no_errors AL356585.1 Clone_based_ensembl_gene ENSG00000212857 tier1 - - 93 0 0.00 207 20 8.77 ENSG00000225411 0 genome.wustl.edu 37 9 68400387 68400387 + RNA DEL C C - TCGA-LN-A49P-01A-11D-A247-09 TCGA-LN-A49P-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b817460-a959-4426-b0e4-1ef0c5fa7a42 1909da38-51a6-4177-a899-14f1f61c0b69 9 68400387 68400387 C - DEL ENSG00000225411 ENST00000417843 human ensembl 74_37 -1 known rna NULL NULL 0.103 - - - no_errors RP11-764K9.1 Clone_based_vega_gene ENSG00000225411 tier1 20 0 0.00 9 3 25.00 ENSG00000253251 0 genome.wustl.edu 37 5 64926000 64926000 + Missense_Mutation SNP G G A TCGA-LN-A49P-01A-11D-A247-09 TCGA-LN-A49P-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b817460-a959-4426-b0e4-1ef0c5fa7a42 1909da38-51a6-4177-a899-14f1f61c0b69 5 64926000 64926000 G A SNP ENSG00000253251 ENST00000510585 human ensembl 74_37 +1 putative missense c.586 p.E196K 1.000 NULL NULL - no_errors CTC-534A2.2 Clone_based_vega_gene ENSG00000253251 tier1 - - 33 0 0.00 34 9 20.93 ENSG00000261286 0 genome.wustl.edu 37 16 84494107 84494108 + RNA INS - - G TCGA-LN-A49P-01A-11D-A247-09 TCGA-LN-A49P-10A-01D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b817460-a959-4426-b0e4-1ef0c5fa7a42 1909da38-51a6-4177-a899-14f1f61c0b69 16 84494107 84494108 - G INS ENSG00000261286 ENST00000565700 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors RP11-517C16.2 Clone_based_vega_gene ENSG00000261286 tier1 106 0 0.00 85 32 27.35 EP300 0 genome.wustl.edu 37 22 41565533 41565533 + Missense_Mutation SNP G G T TCGA-LN-A49P-01A-11D-A247-09 TCGA-LN-A49P-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b817460-a959-4426-b0e4-1ef0c5fa7a42 1909da38-51a6-4177-a899-14f1f61c0b69 22 41565533 41565533 G T SNP EP300 ENST00000263253 human ensembl 74_37 +1 known missense c.4199 p.S1400I 1.000 pfam_Histone_H3-K56_AcTrfase_RTT109 pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors EP300 HGNC ENSG00000100393 tier1 - - 25 0 0.00 51 26 33.77 FAHD2B 0 genome.wustl.edu 37 2 97757727 97757727 + Splice_Site DEL T T - TCGA-LN-A49P-01A-11D-A247-09 TCGA-LN-A49P-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b817460-a959-4426-b0e4-1ef0c5fa7a42 1909da38-51a6-4177-a899-14f1f61c0b69 2 97757727 97757727 T - DEL FAHD2B ENST00000414820 human ensembl 74_37 -1 known splice_site_del c.1-2 e1-2 0.244 - - - no_errors FAHD2B HGNC ENSG00000144199 tier1 8 0 0.00 3 3 50.00 FAM135A 0 genome.wustl.edu 37 6 71234985 71234985 + Missense_Mutation SNP G G A TCGA-LN-A49P-01A-11D-A247-09 TCGA-LN-A49P-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b817460-a959-4426-b0e4-1ef0c5fa7a42 1909da38-51a6-4177-a899-14f1f61c0b69 6 71234985 71234985 G A SNP FAM135A ENST00000418814 human ensembl 74_37 +1 known missense c.2198 p.R733Q 1.000 NULL pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like,pfam_LACT/PDAT_acylTrfase - no_errors FAM135A HGNC ENSG00000082269 tier1 rs143752744 - 29 0 0.00 31 8 20.51 FAM13A 0 genome.wustl.edu 37 4 89859293 89859293 + Silent SNP A A G TCGA-LN-A49P-01A-11D-A247-09 TCGA-LN-A49P-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b817460-a959-4426-b0e4-1ef0c5fa7a42 1909da38-51a6-4177-a899-14f1f61c0b69 4 89859293 89859293 A G SNP FAM13A ENST00000264344 human ensembl 74_37 -1 known silent c.705 p.Y235 0.022 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors FAM13A HGNC ENSG00000138640 tier1 - - 31 0 0.00 29 7 19.44 FAM69B 0 genome.wustl.edu 37 9 139618184 139618184 + Missense_Mutation SNP G G T TCGA-LN-A49P-01A-11D-A247-09 TCGA-LN-A49P-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b817460-a959-4426-b0e4-1ef0c5fa7a42 1909da38-51a6-4177-a899-14f1f61c0b69 9 139618184 139618184 G T SNP FAM69B ENST00000371692 human ensembl 74_37 +1 known missense c.1254 p.K418N 1.000 NULL pfam_FAM69_kinase_dom - no_errors FAM69B HGNC ENSG00000165716 tier1 - - 55 0 0.00 84 10 10.64 FIGN 0 genome.wustl.edu 37 2 164466292 164466292 + Missense_Mutation SNP G G A TCGA-LN-A49P-01A-11D-A247-09 TCGA-LN-A49P-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b817460-a959-4426-b0e4-1ef0c5fa7a42 1909da38-51a6-4177-a899-14f1f61c0b69 2 164466292 164466292 G A SNP FIGN ENST00000333129 human ensembl 74_37 -1 known missense c.2050 p.R684C 1.000 superfamily_P-loop_NTPase pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors FIGN HGNC ENSG00000182263 tier1 - - 52 0 0.00 53 31 36.90 FLRT2 0 genome.wustl.edu 37 14 86090075 86090075 + RNA DEL A A - TCGA-LN-A49P-01A-11D-A247-09 TCGA-LN-A49P-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b817460-a959-4426-b0e4-1ef0c5fa7a42 1909da38-51a6-4177-a899-14f1f61c0b69 14 86090075 86090075 A - DEL FLRT2 ENST00000553650 human ensembl 74_37 +1 putative rna NULL NULL 1.000 - - - no_errors FLRT2 HGNC ENSG00000185070 tier1 35 0 0.00 28 4 12.50 FNDC1 0 genome.wustl.edu 37 6 159692412 159692412 + Missense_Mutation SNP G G A TCGA-LN-A49P-01A-11D-A247-09 TCGA-LN-A49P-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b817460-a959-4426-b0e4-1ef0c5fa7a42 1909da38-51a6-4177-a899-14f1f61c0b69 6 159692412 159692412 G A SNP FNDC1 ENST00000297267 human ensembl 74_37 +1 known missense c.5623 p.G1875R 0.968 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors FNDC1 HGNC ENSG00000164694 tier1 - - 93 0 0.00 49 47 48.96 FRA10AC1 0 genome.wustl.edu 37 10 95431873 95431873 + RNA SNP C C T TCGA-LN-A49P-01A-11D-A247-09 TCGA-LN-A49P-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b817460-a959-4426-b0e4-1ef0c5fa7a42 1909da38-51a6-4177-a899-14f1f61c0b69 10 95431873 95431873 C T SNP FRA10AC1 ENST00000460752 human ensembl 74_37 -1 known rna NULL NULL 0.984 - - - no_errors FRA10AC1 HGNC ENSG00000148690 tier1 - - 23 0 0.00 34 14 29.17 GAL3ST2 0 genome.wustl.edu 37 2 242742979 242742979 + Missense_Mutation SNP T T A TCGA-LN-A49P-01A-11D-A247-09 TCGA-LN-A49P-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b817460-a959-4426-b0e4-1ef0c5fa7a42 1909da38-51a6-4177-a899-14f1f61c0b69 2 242742979 242742979 T A SNP GAL3ST2 ENST00000192314 human ensembl 74_37 +1 known missense c.595 p.F199I 0.041 pfam_Gal-3-0_sulfotransfrase,superfamily_P-loop_NTPase pfam_Gal-3-0_sulfotransfrase,superfamily_P-loop_NTPase - no_errors GAL3ST2 HGNC ENSG00000154252 tier1 - - 45 0 0.00 55 8 12.70 GINS4 0 genome.wustl.edu 37 8 41393951 41393951 + Nonsense_Mutation SNP C C T TCGA-LN-A49P-01A-11D-A247-09 TCGA-LN-A49P-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b817460-a959-4426-b0e4-1ef0c5fa7a42 1909da38-51a6-4177-a899-14f1f61c0b69 8 41393951 41393951 C T SNP GINS4 ENST00000276533 human ensembl 74_37 +1 known nonsense c.169 p.Q57* 1.000 pirsf_GINS_Sld5 pfam_GINS_complex,pirsf_GINS_Sld5 - no_errors GINS4 HGNC ENSG00000147536 tier1 - - 65 0 0.00 70 16 18.60 GPR32 0 genome.wustl.edu 37 19 51274591 51274591 + Missense_Mutation SNP G G A TCGA-LN-A49P-01A-11D-A247-09 TCGA-LN-A49P-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b817460-a959-4426-b0e4-1ef0c5fa7a42 1909da38-51a6-4177-a899-14f1f61c0b69 19 51274591 51274591 G A SNP GPR32 ENST00000270590 human ensembl 74_37 +1 known missense c.734 p.R245Q 0.048 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Formyl_pep_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Formyl_pep_rcpt - no_errors GPR32 HGNC ENSG00000142511 tier1 - - 107 0 0.00 85 28 24.78 GRM8 0 genome.wustl.edu 37 7 126173838 126173838 + Frame_Shift_Del DEL G G - TCGA-LN-A49P-01A-11D-A247-09 TCGA-LN-A49P-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b817460-a959-4426-b0e4-1ef0c5fa7a42 1909da38-51a6-4177-a899-14f1f61c0b69 7 126173838 126173838 G - DEL GRM8 ENST00000339582 human ensembl 74_37 -1 known frame_shift_del c.1598 p.P533fs 1.000 pfam_GPCR_3_9-Cys_dom pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_8,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4,pfscan_GPCR_3_C - no_errors GRM8 HGNC ENSG00000179603 tier1 103 0 0.00 136 22 13.92 HRNR 0 genome.wustl.edu 37 1 152188847 152188847 + Missense_Mutation SNP A A G TCGA-LN-A49P-01A-11D-A247-09 TCGA-LN-A49P-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b817460-a959-4426-b0e4-1ef0c5fa7a42 1909da38-51a6-4177-a899-14f1f61c0b69 1 152188847 152188847 A G SNP HRNR ENST00000368801 human ensembl 74_37 -1 known missense c.5258 p.V1753A 0.002 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors HRNR HGNC ENSG00000197915 tier1 rs145667921 - 35 0 0.00 23 4 14.81 ITGA6 0 genome.wustl.edu 37 2 173335707 173335707 + Missense_Mutation SNP G G T TCGA-LN-A49P-01A-11D-A247-09 TCGA-LN-A49P-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b817460-a959-4426-b0e4-1ef0c5fa7a42 1909da38-51a6-4177-a899-14f1f61c0b69 2 173335707 173335707 G T SNP ITGA6 ENST00000264106 human ensembl 74_37 +1 known missense c.649 p.V217F 1.000 NULL pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA6 HGNC ENSG00000091409 29 0 0.00 57 4 6.56 KIF6 0 genome.wustl.edu 37 6 39688580 39688580 + Missense_Mutation SNP G G T TCGA-LN-A49P-01A-11D-A247-09 TCGA-LN-A49P-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b817460-a959-4426-b0e4-1ef0c5fa7a42 1909da38-51a6-4177-a899-14f1f61c0b69 6 39688580 39688580 G T SNP KIF6 ENST00000287152 human ensembl 74_37 -1 known missense c.74 p.S25Y 1.000 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 KIF6 HGNC ENSG00000164627 tier1 - - 38 0 0.00 71 4 5.33 KIRREL 0 genome.wustl.edu 37 1 158064444 158064444 + Missense_Mutation SNP A A G TCGA-LN-A49P-01A-11D-A247-09 TCGA-LN-A49P-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b817460-a959-4426-b0e4-1ef0c5fa7a42 1909da38-51a6-4177-a899-14f1f61c0b69 1 158064444 158064444 A G SNP KIRREL ENST00000368173 human ensembl 74_37 +1 known missense c.1856 p.N619S 0.999 NULL pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors KIRREL HGNC ENSG00000183853 tier1 - - 72 0 0.00 59 17 22.37 KIRREL3 0 genome.wustl.edu 37 11 126306730 126306730 + Missense_Mutation SNP C C T TCGA-LN-A49P-01A-11D-A247-09 TCGA-LN-A49P-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b817460-a959-4426-b0e4-1ef0c5fa7a42 1909da38-51a6-4177-a899-14f1f61c0b69 11 126306730 126306730 C T SNP KIRREL3 ENST00000525144 human ensembl 74_37 -1 known missense c.1528 p.E510K 0.997 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors KIRREL3 HGNC ENSG00000149571 tier1 - - 48 0 0.00 54 31 36.47 LAMA3 0 genome.wustl.edu 37 18 21331028 21331028 + Missense_Mutation SNP G G T TCGA-LN-A49P-01A-11D-A247-09 TCGA-LN-A49P-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b817460-a959-4426-b0e4-1ef0c5fa7a42 1909da38-51a6-4177-a899-14f1f61c0b69 18 21331028 21331028 G T SNP LAMA3 ENST00000313654 human ensembl 74_37 +1 known missense c.831 p.Q277H 1.000 pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N pfam_EGF_laminin,pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Growth_fac_rcpt_N_dom,superfamily_Galactose-bd-like,superfamily_STAT_TF_coiled-coil,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA3 HGNC ENSG00000053747 58 0 0.00 67 4 5.63 LOC101927016 0 genome.wustl.edu 37 13 64320963 64320963 + Missense_Mutation SNP T T G TCGA-LN-A49P-01A-11D-A247-09 TCGA-LN-A49P-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b817460-a959-4426-b0e4-1ef0c5fa7a42 1909da38-51a6-4177-a899-14f1f61c0b69 13 64320963 64320963 T G SNP LOC101927016 ENST00000453638 human ensembl 74_37 +1 known missense c.30 p.C10W 0.979 NULL NULL - no_errors AL445989.1 Clone_based_ensembl_gene ENSG00000226974 tier1 - - 58 0 0.00 77 17 18.09 LOC101930284 0 genome.wustl.edu 37 1 143230398 143230398 + RNA SNP G G T TCGA-LN-A49P-01A-11D-A247-09 TCGA-LN-A49P-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b817460-a959-4426-b0e4-1ef0c5fa7a42 1909da38-51a6-4177-a899-14f1f61c0b69 1 143230398 143230398 G T SNP LOC101930284 ENST00000422716 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-782C8.5 Clone_based_vega_gene ENSG00000225278 tier1 - - 64 0 0.00 63 7 10.00 LPCAT3 0 genome.wustl.edu 37 12 7086639 7086639 + Missense_Mutation SNP T T C TCGA-LN-A49P-01A-11D-A247-09 TCGA-LN-A49P-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b817460-a959-4426-b0e4-1ef0c5fa7a42 1909da38-51a6-4177-a899-14f1f61c0b69 12 7086639 7086639 T C SNP LPCAT3 ENST00000261407 human ensembl 74_37 -1 known missense c.1237 p.I413V 0.957 pfam_MBOAT_fam pfam_MBOAT_fam - no_errors LPCAT3 HGNC ENSG00000111684 tier1 - - 40 0 0.00 41 15 26.79 LRPPRC 0 genome.wustl.edu 37 2 44128499 44128499 + Missense_Mutation SNP T T C TCGA-LN-A49P-01A-11D-A247-09 TCGA-LN-A49P-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b817460-a959-4426-b0e4-1ef0c5fa7a42 1909da38-51a6-4177-a899-14f1f61c0b69 2 44128499 44128499 T C SNP LRPPRC ENST00000260665 human ensembl 74_37 -1 known missense c.3529 p.M1177V 0.969 NULL pfam_Pentatricopeptide_repeat,tigrfam_Pentatricopeptide_repeat - no_errors LRPPRC HGNC ENSG00000138095 tier1 - - 61 0 0.00 72 18 20.00 MAGEA9B 0 genome.wustl.edu 37 X 148664813 148664813 + Missense_Mutation SNP G G A TCGA-LN-A49P-01A-11D-A247-09 TCGA-LN-A49P-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b817460-a959-4426-b0e4-1ef0c5fa7a42 1909da38-51a6-4177-a899-14f1f61c0b69 X 148664813 148664813 G A SNP MAGEA9B ENST00000243314 human ensembl 74_37 -1 known missense c.23 p.P8L 0.000 pfam_Melanoma_ass_antigen_N pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEA9B HGNC ENSG00000123584 tier1 - - 67 0 0.00 115 19 14.18 MAP3K1 0 genome.wustl.edu 37 5 56180554 56180554 + Frame_Shift_Del DEL A A - TCGA-LN-A49P-01A-11D-A247-09 TCGA-LN-A49P-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b817460-a959-4426-b0e4-1ef0c5fa7a42 1909da38-51a6-4177-a899-14f1f61c0b69 5 56180554 56180554 A - DEL MAP3K1 ENST00000399503 human ensembl 74_37 +1 novel frame_shift_del c.3883 p.I1295fs 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,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_dom - no_errors MAP3K1 HGNC ENSG00000095015 tier1 31 0 0.00 36 10 21.74 MAP3K4 0 genome.wustl.edu 37 6 161470625 161470625 + Nonsense_Mutation SNP G G T TCGA-LN-A49P-01A-11D-A247-09 TCGA-LN-A49P-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b817460-a959-4426-b0e4-1ef0c5fa7a42 1909da38-51a6-4177-a899-14f1f61c0b69 6 161470625 161470625 G T SNP MAP3K4 ENST00000392142 human ensembl 74_37 +1 known nonsense c.1321 p.E441* 0.870 NULL 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,pfscan_Prot_kinase_dom - no_errors MAP3K4 HGNC ENSG00000085511 tier1 - - 74 0 0.00 62 4 6.06 MAP9 0 genome.wustl.edu 37 4 156274406 156274406 + Silent SNP G G T TCGA-LN-A49P-01A-11D-A247-09 TCGA-LN-A49P-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b817460-a959-4426-b0e4-1ef0c5fa7a42 1909da38-51a6-4177-a899-14f1f61c0b69 4 156274406 156274406 G T SNP MAP9 ENST00000311277 human ensembl 74_37 -1 known silent c.1467 p.A489 0.038 NULL NULL - no_errors MAP9 HGNC ENSG00000164114 tier1 - - 43 0 0.00 60 4 6.25 MDGA2 0 genome.wustl.edu 37 14 47342646 47342646 + Silent SNP T T C TCGA-LN-A49P-01A-11D-A247-09 TCGA-LN-A49P-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b817460-a959-4426-b0e4-1ef0c5fa7a42 1909da38-51a6-4177-a899-14f1f61c0b69 14 47342646 47342646 T C SNP MDGA2 ENST00000439988 human ensembl 74_37 -1 known silent c.2742 p.G914 1.000 pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_MAM_dom,pfscan_Ig-like_dom - no_errors MDGA2 Uniprot_gn ENSG00000272781 tier1 - - 70 0 0.00 81 17 17.35 MOCOS 0 genome.wustl.edu 37 18 33836814 33836815 + RNA INS - - T TCGA-LN-A49P-01A-11D-A247-09 TCGA-LN-A49P-10A-01D-A247-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b817460-a959-4426-b0e4-1ef0c5fa7a42 1909da38-51a6-4177-a899-14f1f61c0b69 18 33836814 33836815 - T INS MOCOS ENST00000588132 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors MOCOS HGNC ENSG00000075643 tier1 13 0 0.00 9 8 47.06 MUC5B 0 genome.wustl.edu 37 11 1271669 1271669 + Missense_Mutation SNP C C A TCGA-LN-A49P-01A-11D-A247-09 TCGA-LN-A49P-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b817460-a959-4426-b0e4-1ef0c5fa7a42 1909da38-51a6-4177-a899-14f1f61c0b69 11 1271669 1271669 C A SNP MUC5B ENST00000447027 human ensembl 74_37 +1 known missense c.13568 p.T4523N 0.003 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 tier1 - - 129 0 0.00 99 46 31.72 MXI1 0 genome.wustl.edu 37 10 112038963 112038963 + Missense_Mutation SNP G G A TCGA-LN-A49P-01A-11D-A247-09 TCGA-LN-A49P-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b817460-a959-4426-b0e4-1ef0c5fa7a42 1909da38-51a6-4177-a899-14f1f61c0b69 10 112038963 112038963 G A SNP MXI1 ENST00000332674 human ensembl 74_37 +1 known missense c.463 p.E155K 1.000 pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MXI1 HGNC ENSG00000119950 tier1 - - 86 0 0.00 68 17 20.00 MYRF 0 genome.wustl.edu 37 11 61537890 61537893 + Frame_Shift_Del DEL CCCG CCCG - TCGA-LN-A49P-01A-11D-A247-09 TCGA-LN-A49P-10A-01D-A247-09 CCCG CCCG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b817460-a959-4426-b0e4-1ef0c5fa7a42 1909da38-51a6-4177-a899-14f1f61c0b69 11 61537890 61537893 CCCG - DEL MYRF ENST00000278836 human ensembl 74_37 +1 known frame_shift_del c.633_636 p.P212fs 0.999:0.999:0.988:0.044 NULL pfam_NDT80_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd - no_errors MYRF HGNC ENSG00000124920 tier1 39 0 0.00 28 12 30.00 MYRF 0 genome.wustl.edu 37 11 61537912 61537912 + Missense_Mutation SNP A A T TCGA-LN-A49P-01A-11D-A247-09 TCGA-LN-A49P-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b817460-a959-4426-b0e4-1ef0c5fa7a42 1909da38-51a6-4177-a899-14f1f61c0b69 11 61537912 61537912 A T SNP MYRF ENST00000278836 human ensembl 74_37 +1 known missense c.655 p.M219L 1.000 NULL pfam_NDT80_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd - no_errors MYRF HGNC ENSG00000124920 tier1 - - 56 0 0.00 36 19 34.55 NASP 0 genome.wustl.edu 37 1 46073323 46073323 + Missense_Mutation SNP G G A TCGA-LN-A49P-01A-11D-A247-09 TCGA-LN-A49P-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b817460-a959-4426-b0e4-1ef0c5fa7a42 1909da38-51a6-4177-a899-14f1f61c0b69 1 46073323 46073323 G A SNP NASP ENST00000402363 human ensembl 74_37 +1 known missense c.746 p.G249E 0.008 NULL pfam_Tetratricopeptide_SHNi-TPR_dom,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors NASP HGNC ENSG00000132780 27 0 0.00 35 2 5.41 NBN 0 genome.wustl.edu 37 8 90993677 90993677 + Missense_Mutation SNP T T A TCGA-LN-A49P-01A-11D-A247-09 TCGA-LN-A49P-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b817460-a959-4426-b0e4-1ef0c5fa7a42 1909da38-51a6-4177-a899-14f1f61c0b69 8 90993677 90993677 T A SNP NBN ENST00000265433 human ensembl 74_37 -1 known missense c.246 p.K82N 1.000 pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pirsf_Nibrin_met,pfscan_FHA_dom pfam_DNA-repair_Nbs1_C,pfam_FHA_dom,superfamily_SMAD_FHA_domain,superfamily_BRCT_dom,smart_FHA_dom,pirsf_Nibrin_met,pfscan_FHA_dom - no_errors NBN HGNC ENSG00000104320 tier1 - - 61 0 0.00 78 34 30.36 NKPD1 0 genome.wustl.edu 37 19 45656064 45656064 + Missense_Mutation SNP G G A TCGA-LN-A49P-01A-11D-A247-09 TCGA-LN-A49P-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b817460-a959-4426-b0e4-1ef0c5fa7a42 1909da38-51a6-4177-a899-14f1f61c0b69 19 45656064 45656064 G A SNP NKPD1 ENST00000317951 human ensembl 74_37 -1 known missense c.1631 p.A544V 0.992 pfam_KAP_NTPase pfam_KAP_NTPase - no_errors NKPD1 HGNC ENSG00000179846 tier1 - - 67 0 0.00 56 82 59.42 NPRL3 0 genome.wustl.edu 37 16 136635 136635 + RNA SNP G G A TCGA-LN-A49P-01A-11D-A247-09 TCGA-LN-A49P-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b817460-a959-4426-b0e4-1ef0c5fa7a42 1909da38-51a6-4177-a899-14f1f61c0b69 16 136635 136635 G A SNP NPRL3 ENST00000405960 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors NPRL3 HGNC ENSG00000103148 tier1 - - 19 0 0.00 30 6 16.67 NXF3 0 genome.wustl.edu 37 X 102347947 102347947 + Nonsense_Mutation SNP G G T TCGA-LN-A49P-01A-11D-A247-09 TCGA-LN-A49P-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b817460-a959-4426-b0e4-1ef0c5fa7a42 1909da38-51a6-4177-a899-14f1f61c0b69 X 102347947 102347947 G T SNP NXF3 ENST00000395065 human ensembl 74_37 -1 known nonsense c.5 p.S2* 0.000 NULL pfam_Tap_RNA-bd,pfam_NTF2,pfscan_Nuclear_transport_factor_2_euk - no_errors NXF3 HGNC ENSG00000147206 tier1 - - 34 0 0.00 31 56 64.37 OR3A2 0 genome.wustl.edu 37 17 3182035 3182035 + Silent SNP G G A TCGA-LN-A49P-01A-11D-A247-09 TCGA-LN-A49P-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b817460-a959-4426-b0e4-1ef0c5fa7a42 1909da38-51a6-4177-a899-14f1f61c0b69 17 3182035 3182035 G A SNP OR3A2 ENST00000408891 human ensembl 74_37 -1 known silent c.195 p.H65 0.858 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR3A2 HGNC ENSG00000221882 tier1 - - 17 0 0.00 7 7 50.00 PARM1 0 genome.wustl.edu 37 4 75937793 75937793 + Missense_Mutation SNP G G A TCGA-LN-A49P-01A-11D-A247-09 TCGA-LN-A49P-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b817460-a959-4426-b0e4-1ef0c5fa7a42 1909da38-51a6-4177-a899-14f1f61c0b69 4 75937793 75937793 G A SNP PARM1 ENST00000307428 human ensembl 74_37 +1 known missense c.202 p.V68I 0.000 NULL NULL - no_errors PARM1 HGNC ENSG00000169116 tier1 - - 46 0 0.00 37 36 49.32 PCSK9 0 genome.wustl.edu 37 1 55512211 55512211 + Missense_Mutation SNP C C T TCGA-LN-A49P-01A-11D-A247-09 TCGA-LN-A49P-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b817460-a959-4426-b0e4-1ef0c5fa7a42 1909da38-51a6-4177-a899-14f1f61c0b69 1 55512211 55512211 C T SNP PCSK9 ENST00000302118 human ensembl 74_37 +1 known missense c.415 p.H139Y 0.998 pfam_Inhibitor_I9,superfamily_Prot_inh_propept pfam_Peptidase_S8/S53_dom,pfam_Inhibitor_I9,superfamily_Peptidase_S8/S53_dom,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK9 HGNC ENSG00000169174 tier1 - - 55 0 0.00 28 37 56.92 PELI2 0 genome.wustl.edu 37 14 56645145 56645145 + Missense_Mutation SNP G G T TCGA-LN-A49P-01A-11D-A247-09 TCGA-LN-A49P-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b817460-a959-4426-b0e4-1ef0c5fa7a42 1909da38-51a6-4177-a899-14f1f61c0b69 14 56645145 56645145 G T SNP PELI2 ENST00000267460 human ensembl 74_37 +1 known missense c.170 p.S57I 1.000 pfam_Pellino_fam pfam_Pellino_fam - no_errors PELI2 HGNC ENSG00000139946 tier1 - - 110 0 0.00 111 32 22.38 PEX5L 0 genome.wustl.edu 37 3 179592166 179592166 + Silent SNP G G A TCGA-LN-A49P-01A-11D-A247-09 TCGA-LN-A49P-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b817460-a959-4426-b0e4-1ef0c5fa7a42 1909da38-51a6-4177-a899-14f1f61c0b69 3 179592166 179592166 G A SNP PEX5L ENST00000467460 human ensembl 74_37 -1 known silent c.675 p.S225 0.812 NULL pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors PEX5L HGNC ENSG00000114757 tier1 rs139208096 - 86 0 0.00 83 16 16.16 PHF15 0 genome.wustl.edu 37 5 133895550 133895550 + Silent SNP C C T TCGA-LN-A49P-01A-11D-A247-09 TCGA-LN-A49P-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b817460-a959-4426-b0e4-1ef0c5fa7a42 1909da38-51a6-4177-a899-14f1f61c0b69 5 133895550 133895550 C T SNP PHF15 ENST00000395003 human ensembl 74_37 +1 known silent c.342 p.A114 0.012 pfam_Enhancer_polycomb-like_N pfam_Enhancer_polycomb-like_N,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF15 HGNC ENSG00000043143 tier1 - - 52 0 0.00 81 14 14.74 PID1 0 genome.wustl.edu 37 2 229890645 229890645 + Silent SNP C C T TCGA-LN-A49P-01A-11D-A247-09 TCGA-LN-A49P-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b817460-a959-4426-b0e4-1ef0c5fa7a42 1909da38-51a6-4177-a899-14f1f61c0b69 2 229890645 229890645 C T SNP PID1 ENST00000354069 human ensembl 74_37 -1 known silent c.456 p.G152 0.073 smart_PTB/PI_dom pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom - no_errors PID1 HGNC ENSG00000153823 tier1 - - 109 0 0.00 133 22 14.19 PIKFYVE 0 genome.wustl.edu 37 2 209198070 209198070 + Missense_Mutation SNP C C T TCGA-LN-A49P-01A-11D-A247-09 TCGA-LN-A49P-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b817460-a959-4426-b0e4-1ef0c5fa7a42 1909da38-51a6-4177-a899-14f1f61c0b69 2 209198070 209198070 C T SNP PIKFYVE ENST00000264380 human ensembl 74_37 +1 known missense c.3995 p.S1332F 1.000 NULL 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 - - 63 0 0.00 70 15 17.65 PKD1L1 0 genome.wustl.edu 37 7 47851429 47851429 + Missense_Mutation SNP G G A TCGA-LN-A49P-01A-11D-A247-09 TCGA-LN-A49P-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b817460-a959-4426-b0e4-1ef0c5fa7a42 1909da38-51a6-4177-a899-14f1f61c0b69 7 47851429 47851429 G A SNP PKD1L1 ENST00000289672 human ensembl 74_37 -1 known missense c.7567 p.L2523F 0.000 pfam_PKD1_2_channel pfam_PKD/REJ-like,pfam_PKD1_2_channel,pfam_PKD_dom,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,superfamily_PKD_dom,smart_PKD/Chitinase_dom,smart_PLAT/LH2_dom,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like - no_errors PKD1L1 HGNC ENSG00000158683 tier1 - - 52 0 0.00 54 11 16.92 PLEKHA3 0 genome.wustl.edu 37 2 179346638 179346638 + RNA SNP A A G TCGA-LN-A49P-01A-11D-A247-09 TCGA-LN-A49P-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b817460-a959-4426-b0e4-1ef0c5fa7a42 1909da38-51a6-4177-a899-14f1f61c0b69 2 179346638 179346638 A G SNP PLEKHA3 ENST00000461474 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors PLEKHA3 HGNC ENSG00000116095 tier1 - - 23 0 0.00 33 11 25.00 POPDC3 0 genome.wustl.edu 37 6 105606536 105606536 + Missense_Mutation SNP G G A TCGA-LN-A49P-01A-11D-A247-09 TCGA-LN-A49P-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b817460-a959-4426-b0e4-1ef0c5fa7a42 1909da38-51a6-4177-a899-14f1f61c0b69 6 105606536 105606536 G A SNP POPDC3 ENST00000254765 human ensembl 74_37 -1 known missense c.685 p.R229C 1.000 pfam_Popeye_prot,superfamily_cNMP-bd-like pfam_Popeye_prot,superfamily_cNMP-bd-like - no_errors POPDC3 HGNC ENSG00000132429 tier1 - - 32 0 0.00 29 23 44.23 PPFIA2 0 genome.wustl.edu 37 12 81991809 81991809 + Missense_Mutation SNP C C G TCGA-LN-A49P-01A-11D-A247-09 TCGA-LN-A49P-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b817460-a959-4426-b0e4-1ef0c5fa7a42 1909da38-51a6-4177-a899-14f1f61c0b69 12 81991809 81991809 C G SNP PPFIA2 ENST00000407050 human ensembl 74_37 -1 putative missense c.3 p.M1I 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIA2 HGNC ENSG00000139220 tier1 - - 39 0 0.00 57 13 18.57 PRB2 0 genome.wustl.edu 37 12 11546795 11546795 + Missense_Mutation SNP G G A TCGA-LN-A49P-01A-11D-A247-09 TCGA-LN-A49P-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b817460-a959-4426-b0e4-1ef0c5fa7a42 1909da38-51a6-4177-a899-14f1f61c0b69 12 11546795 11546795 G A SNP PRB2 ENST00000389362 human ensembl 74_37 -1 known missense c.217 p.P73S 0.003 NULL NULL - no_errors PRB2 HGNC ENSG00000121335 87 0 0.00 47 6 11.32 PRDM14 0 genome.wustl.edu 37 8 70964528 70964528 + Silent SNP G G A TCGA-LN-A49P-01A-11D-A247-09 TCGA-LN-A49P-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b817460-a959-4426-b0e4-1ef0c5fa7a42 1909da38-51a6-4177-a899-14f1f61c0b69 8 70964528 70964528 G A SNP PRDM14 ENST00000276594 human ensembl 74_37 -1 known silent c.1500 p.A500 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM14 HGNC ENSG00000147596 tier1 - - 74 0 0.00 117 37 24.03 PSMA3 0 genome.wustl.edu 37 14 58738592 58738592 + Silent SNP A A G TCGA-LN-A49P-01A-11D-A247-09 TCGA-LN-A49P-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b817460-a959-4426-b0e4-1ef0c5fa7a42 1909da38-51a6-4177-a899-14f1f61c0b69 14 58738592 58738592 A G SNP PSMA3 ENST00000216455 human ensembl 74_37 +1 known silent c.747 p.E249 1.000 NULL pfam_Proteasome_sua/b,pfam_Proteasome_asu_N,smart_Proteasome_asu_N - no_errors PSMA3 HGNC ENSG00000100567 20 0 0.00 26 2 7.14 RAB3GAP2 0 genome.wustl.edu 37 1 220440106 220440106 + RNA SNP T T C TCGA-LN-A49P-01A-11D-A247-09 TCGA-LN-A49P-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b817460-a959-4426-b0e4-1ef0c5fa7a42 1909da38-51a6-4177-a899-14f1f61c0b69 1 220440106 220440106 T C SNP RAB3GAP2 ENST00000462353 human ensembl 74_37 -1 known rna NULL NULL 0.944 - - - no_errors RAB3GAP2 HGNC ENSG00000118873 tier1 - - 87 0 0.00 85 28 24.78 RANBP2 0 genome.wustl.edu 37 2 109381161 109381161 + Missense_Mutation SNP C C T TCGA-LN-A49P-01A-11D-A247-09 TCGA-LN-A49P-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b817460-a959-4426-b0e4-1ef0c5fa7a42 1909da38-51a6-4177-a899-14f1f61c0b69 2 109381161 109381161 C T SNP RANBP2 ENST00000283195 human ensembl 74_37 +1 known missense c.4166 p.P1389L 0.992 NULL pfam_Ran_bind_dom,pfam_Znf_RanBP2,pfam_IR1-M,pfam_Cyclophilin-like_PPIase_dom,pfam_TPR_1,superfamily_Cyclophilin-like_PPIase_dom,smart_TPR_repeat,smart_Ran_bind_dom,smart_Znf_RanBP2,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RanBP2,pfscan_Cyclophilin-like_PPIase_dom,pfscan_Ran_bind_dom,prints_Cyclophilin-like_PPIase_dom - no_errors RANBP2 HGNC ENSG00000153201 29 0 0.00 32 3 8.57 RP9P 0 genome.wustl.edu 37 7 32957147 32957147 + RNA SNP G G T TCGA-LN-A49P-01A-11D-A247-09 TCGA-LN-A49P-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b817460-a959-4426-b0e4-1ef0c5fa7a42 1909da38-51a6-4177-a899-14f1f61c0b69 7 32957147 32957147 G T SNP RP9P ENST00000381639 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RP9P HGNC ENSG00000205763 tier1 - - 32 0 0.00 38 4 9.52 SEL1L3 0 genome.wustl.edu 37 4 25760579 25760579 + Missense_Mutation SNP G G T TCGA-LN-A49P-01A-11D-A247-09 TCGA-LN-A49P-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b817460-a959-4426-b0e4-1ef0c5fa7a42 1909da38-51a6-4177-a899-14f1f61c0b69 4 25760579 25760579 G T SNP SEL1L3 ENST00000399878 human ensembl 74_37 -1 known missense c.3067 p.Q1023K 0.979 NULL pfam_Sel1-like,superfamily_ConA-like_lec_gl_sf,smart_Sel1-like - no_errors SEL1L3 HGNC ENSG00000091490 tier1 - - 49 0 0.00 66 4 5.71 SELE 0 genome.wustl.edu 37 1 169696946 169696946 + Missense_Mutation SNP G G T TCGA-LN-A49P-01A-11D-A247-09 TCGA-LN-A49P-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b817460-a959-4426-b0e4-1ef0c5fa7a42 1909da38-51a6-4177-a899-14f1f61c0b69 1 169696946 169696946 G T SNP SELE ENST00000333360 human ensembl 74_37 -1 known missense c.1402 p.H468N 0.002 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,pfam_C-type_lectin,pfam_EG-like_dom,pfam_EGF_extracell,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_C-type_lectin,smart_EG-like_dom,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Sushi_SCR_CCP,prints_Selectin_superfamily - no_errors SELE HGNC ENSG00000007908 26 0 0.00 37 3 7.50 SIK2 0 genome.wustl.edu 37 11 111491117 111491117 + Nonsense_Mutation SNP G G T TCGA-LN-A49P-01A-11D-A247-09 TCGA-LN-A49P-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b817460-a959-4426-b0e4-1ef0c5fa7a42 1909da38-51a6-4177-a899-14f1f61c0b69 11 111491117 111491117 G T SNP SIK2 ENST00000304987 human ensembl 74_37 +1 known nonsense c.307 p.E103* 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_Ser/Thr_kinase_SIK1/2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom 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_Ser/Thr_kinase_SIK1/2,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors SIK2 HGNC ENSG00000170145 14 0 0.00 18 2 10.00 SLC16A4 0 genome.wustl.edu 37 1 110921577 110921577 + Missense_Mutation SNP G G C TCGA-LN-A49P-01A-11D-A247-09 TCGA-LN-A49P-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b817460-a959-4426-b0e4-1ef0c5fa7a42 1909da38-51a6-4177-a899-14f1f61c0b69 1 110921577 110921577 G C SNP SLC16A4 ENST00000369779 human ensembl 74_37 -1 known missense c.928 p.L310V 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A4 HGNC ENSG00000168679 tier1 - - 30 0 0.00 33 5 13.16 SLC18A1 0 genome.wustl.edu 37 8 20007219 20007219 + Missense_Mutation SNP C C T TCGA-LN-A49P-01A-11D-A247-09 TCGA-LN-A49P-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b817460-a959-4426-b0e4-1ef0c5fa7a42 1909da38-51a6-4177-a899-14f1f61c0b69 8 20007219 20007219 C T SNP SLC18A1 ENST00000276373 human ensembl 74_37 -1 known missense c.1114 p.G372R 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Multidrug-R - no_errors SLC18A1 HGNC ENSG00000036565 22 0 0.00 32 2 5.88 SLC26A7 0 genome.wustl.edu 37 8 92307786 92307786 + Missense_Mutation SNP C C T TCGA-LN-A49P-01A-11D-A247-09 TCGA-LN-A49P-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b817460-a959-4426-b0e4-1ef0c5fa7a42 1909da38-51a6-4177-a899-14f1f61c0b69 8 92307786 92307786 C T SNP SLC26A7 ENST00000309536 human ensembl 74_37 +1 known missense c.332 p.S111L 1.000 NULL pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom - no_errors SLC26A7 HGNC ENSG00000147606 tier1 - - 46 0 0.00 90 14 13.46 SLITRK2 0 genome.wustl.edu 37 X 144905225 144905225 + Missense_Mutation SNP C C A TCGA-LN-A49P-01A-11D-A247-09 TCGA-LN-A49P-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b817460-a959-4426-b0e4-1ef0c5fa7a42 1909da38-51a6-4177-a899-14f1f61c0b69 X 144905225 144905225 C A SNP SLITRK2 ENST00000370490 human ensembl 74_37 +1 known missense c.1282 p.L428I 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK2 HGNC ENSG00000185985 tier1 - - 39 0 0.00 56 8 12.50 SNAP25 0 genome.wustl.edu 37 20 10287391 10287391 + RNA SNP A A G TCGA-LN-A49P-01A-11D-A247-09 TCGA-LN-A49P-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b817460-a959-4426-b0e4-1ef0c5fa7a42 1909da38-51a6-4177-a899-14f1f61c0b69 20 10287391 10287391 A G SNP SNAP25 ENST00000495883 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors SNAP25 HGNC ENSG00000132639 tier1 - - 50 0 0.00 48 26 35.14 SNHG1 0 genome.wustl.edu 37 11 62622798 62622798 + RNA SNP A A G TCGA-LN-A49P-01A-11D-A247-09 TCGA-LN-A49P-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b817460-a959-4426-b0e4-1ef0c5fa7a42 1909da38-51a6-4177-a899-14f1f61c0b69 11 62622798 62622798 A G SNP SNHG1 ENST00000384147 human ensembl 74_37 -1 known rna NULL NULL 0.931 - - - no_errors SNHG1 HGNC ENSG00000255717 tier1 - - 31 0 0.00 33 10 23.26 SNORA25 0 genome.wustl.edu 37 11 93463755 93463755 + RNA SNP G G C TCGA-LN-A49P-01A-11D-A247-09 TCGA-LN-A49P-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b817460-a959-4426-b0e4-1ef0c5fa7a42 1909da38-51a6-4177-a899-14f1f61c0b69 11 93463755 93463755 G C SNP SNORA25 ENST00000384384 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors SNORA25 HGNC ENSG00000207112 tier1 - - 72 0 0.00 57 16 21.92 SPECC1L 0 genome.wustl.edu 37 22 24718567 24718567 + Missense_Mutation SNP G G T TCGA-LN-A49P-01A-11D-A247-09 TCGA-LN-A49P-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b817460-a959-4426-b0e4-1ef0c5fa7a42 1909da38-51a6-4177-a899-14f1f61c0b69 22 24718567 24718567 G T SNP SPECC1L ENST00000314328 human ensembl 74_37 +1 known missense c.1619 p.R540L 1.000 NULL pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_bHLH_dom,smart_CH-domain,pfscan_CH-domain - no_errors SPECC1L HGNC ENSG00000100014 tier1 - - 33 0 0.00 54 4 6.90 SYNPO 0 genome.wustl.edu 37 5 150029259 150029259 + Silent SNP C C T TCGA-LN-A49P-01A-11D-A247-09 TCGA-LN-A49P-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b817460-a959-4426-b0e4-1ef0c5fa7a42 1909da38-51a6-4177-a899-14f1f61c0b69 5 150029259 150029259 C T SNP SYNPO ENST00000394243 human ensembl 74_37 +1 known silent c.2154 p.S718 0.001 NULL NULL - no_errors SYNPO HGNC ENSG00000171992 tier1 - - 32 0 0.00 13 18 58.06 TCHH 0 genome.wustl.edu 37 1 152081839 152081839 + Missense_Mutation SNP C C T TCGA-LN-A49P-01A-11D-A247-09 TCGA-LN-A49P-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b817460-a959-4426-b0e4-1ef0c5fa7a42 1909da38-51a6-4177-a899-14f1f61c0b69 1 152081839 152081839 C T SNP TCHH ENST00000368804 human ensembl 74_37 -1 known missense c.3854 p.R1285H 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors TCHH HGNC ENSG00000159450 tier1 - - 38 0 0.00 40 13 24.53 TF 0 genome.wustl.edu 37 3 133478024 133478024 + Missense_Mutation SNP G G A TCGA-LN-A49P-01A-11D-A247-09 TCGA-LN-A49P-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b817460-a959-4426-b0e4-1ef0c5fa7a42 1909da38-51a6-4177-a899-14f1f61c0b69 3 133478024 133478024 G A SNP TF ENST00000402696 human ensembl 74_37 +1 known missense c.1054 p.E352K 0.068 smart_Transferrin_fam,pirsf_Transferrin pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin,prints_Transferrin_fam - no_errors TF HGNC ENSG00000091513 tier1 - - 24 0 0.00 38 7 15.56 TGFBR2 0 genome.wustl.edu 37 3 30715678 30715678 + Missense_Mutation SNP G G A TCGA-LN-A49P-01A-11D-A247-09 TCGA-LN-A49P-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b817460-a959-4426-b0e4-1ef0c5fa7a42 1909da38-51a6-4177-a899-14f1f61c0b69 3 30715678 30715678 G A SNP TGFBR2 ENST00000359013 human ensembl 74_37 +1 known missense c.1411 p.D471N 1.000 pirsf_Transform_growth_fac-b_typ-2,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,pfscan_Prot_kinase_dom pirsf_Transform_growth_fac-b_typ-2,pfam_Transforming_GF_b_rcpt_2_ecto,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,prints_TGFB_receptor,pfscan_Prot_kinase_dom - no_errors TGFBR2 HGNC ENSG00000163513 tier1 - - 126 0 0.00 99 22 18.03 THBS4 0 genome.wustl.edu 37 5 79378262 79378262 + Silent SNP T T G TCGA-LN-A49P-01A-11D-A247-09 TCGA-LN-A49P-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b817460-a959-4426-b0e4-1ef0c5fa7a42 1909da38-51a6-4177-a899-14f1f61c0b69 5 79378262 79378262 T G SNP THBS4 ENST00000350881 human ensembl 74_37 +1 known silent c.2718 p.A906 0.128 pfam_Thrombospondin_C,superfamily_ConA-like_lec_gl_sf pfam_Thrombospondin_C,pfam_Thbs/COMP_coiled-coil,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors THBS4 HGNC ENSG00000113296 68 0 0.00 63 10 13.70 THBS4 0 genome.wustl.edu 37 5 79378263 79378263 + Missense_Mutation SNP G G T TCGA-LN-A49P-01A-11D-A247-09 TCGA-LN-A49P-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b817460-a959-4426-b0e4-1ef0c5fa7a42 1909da38-51a6-4177-a899-14f1f61c0b69 5 79378263 79378263 G T SNP THBS4 ENST00000350881 human ensembl 74_37 +1 known missense c.2719 p.D907Y 1.000 pfam_Thrombospondin_C,superfamily_ConA-like_lec_gl_sf pfam_Thrombospondin_C,pfam_Thbs/COMP_coiled-coil,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors THBS4 HGNC ENSG00000113296 69 0 0.00 61 10 14.08 TMCC1 0 genome.wustl.edu 37 3 129373823 129373823 + Silent SNP G G C TCGA-LN-A49P-01A-11D-A247-09 TCGA-LN-A49P-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b817460-a959-4426-b0e4-1ef0c5fa7a42 1909da38-51a6-4177-a899-14f1f61c0b69 3 129373823 129373823 G C SNP TMCC1 ENST00000393238 human ensembl 74_37 -1 known silent c.1635 p.A545 0.979 pfam_Predicted_TM_coiled-coil_2 pfam_Predicted_TM_coiled-coil_2 - no_errors TMCC1 HGNC ENSG00000172765 tier1 - - 39 0 0.00 47 18 27.69 TMEM132C 0 genome.wustl.edu 37 12 129190651 129190651 + Silent SNP G G A TCGA-LN-A49P-01A-11D-A247-09 TCGA-LN-A49P-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b817460-a959-4426-b0e4-1ef0c5fa7a42 1909da38-51a6-4177-a899-14f1f61c0b69 12 129190651 129190651 G A SNP TMEM132C ENST00000435159 human ensembl 74_37 +1 known silent c.3138 p.S1046 0.129 NULL NULL - no_errors TMEM132C HGNC ENSG00000181234 tier1 - - 46 0 0.00 32 11 25.58 TMEM221 0 genome.wustl.edu 37 19 17556067 17556067 + Missense_Mutation SNP C C T TCGA-LN-A49P-01A-11D-A247-09 TCGA-LN-A49P-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b817460-a959-4426-b0e4-1ef0c5fa7a42 1909da38-51a6-4177-a899-14f1f61c0b69 19 17556067 17556067 C T SNP TMEM221 ENST00000341130 human ensembl 74_37 -1 known missense c.347 p.R116H 0.997 NULL NULL - no_errors TMEM221 HGNC ENSG00000188051 tier1 - - 60 0 0.00 54 12 18.18 TMPO 0 genome.wustl.edu 37 12 98931427 98931427 + Missense_Mutation SNP A A G TCGA-LN-A49P-01A-11D-A247-09 TCGA-LN-A49P-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b817460-a959-4426-b0e4-1ef0c5fa7a42 1909da38-51a6-4177-a899-14f1f61c0b69 12 98931427 98931427 A G SNP TMPO ENST00000261210 human ensembl 74_37 +1 novel missense c.740 p.N247S 0.001 NULL pfam_LEM-like_dom,pfam_LEM_dom,superfamily_LEM/LEM-like_dom,smart_LEM_dom,pfscan_LEM_dom,pfscan_LEM-like_dom - no_errors TMPO HGNC ENSG00000120802 tier1 - - 15 0 0.00 19 7 26.92 TOR1AIP2 0 genome.wustl.edu 37 1 179815756 179815756 + Missense_Mutation SNP G G A TCGA-LN-A49P-01A-11D-A247-09 TCGA-LN-A49P-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b817460-a959-4426-b0e4-1ef0c5fa7a42 1909da38-51a6-4177-a899-14f1f61c0b69 1 179815756 179815756 G A SNP TOR1AIP2 ENST00000367612 human ensembl 74_37 -1 known missense c.863 p.S288F 0.682 pfam_Lamina-ass_polypeptide_CLAP1C pfam_Lamina-ass_polypeptide_CLAP1C - no_errors TOR1AIP2 HGNC ENSG00000169905 tier1 - - 71 0 0.00 72 17 19.10 TP53 0 genome.wustl.edu 37 17 7577610 7577610 + Splice_Site SNP T T C TCGA-LN-A49P-01A-11D-A247-09 TCGA-LN-A49P-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b817460-a959-4426-b0e4-1ef0c5fa7a42 1909da38-51a6-4177-a899-14f1f61c0b69 17 7577610 7577610 T C SNP TP53 ENST00000269305 human ensembl 74_37 -1 known splice_site c.673-2 e6-2 0.999 - - - no_errors TP53 HGNC ENSG00000141510 tier1 - - 69 0 0.00 54 50 48.08 TRIB3 0 genome.wustl.edu 37 20 371973 371973 + Missense_Mutation SNP G G A TCGA-LN-A49P-01A-11D-A247-09 TCGA-LN-A49P-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b817460-a959-4426-b0e4-1ef0c5fa7a42 1909da38-51a6-4177-a899-14f1f61c0b69 20 371973 371973 G A SNP TRIB3 ENST00000422053 human ensembl 74_37 +1 known missense c.415 p.A139T 0.001 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom - no_errors TRIB3 HGNC ENSG00000101255 tier1 - - 45 0 0.00 54 29 34.94 TTLL13 0 genome.wustl.edu 37 15 90801306 90801306 + Silent SNP C C T TCGA-LN-A49P-01A-11D-A247-09 TCGA-LN-A49P-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b817460-a959-4426-b0e4-1ef0c5fa7a42 1909da38-51a6-4177-a899-14f1f61c0b69 15 90801306 90801306 C T SNP TTLL13 ENST00000438251 human ensembl 74_37 +1 known silent c.972 p.H324 0.967 pfam_TTL/TTLL_fam pfam_TTL/TTLL_fam - no_errors TTLL13 HGNC ENSG00000213471 tier1 - - 37 0 0.00 24 21 46.67 UBR4 0 genome.wustl.edu 37 1 19422060 19422060 + Silent SNP G G C TCGA-LN-A49P-01A-11D-A247-09 TCGA-LN-A49P-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b817460-a959-4426-b0e4-1ef0c5fa7a42 1909da38-51a6-4177-a899-14f1f61c0b69 1 19422060 19422060 G C SNP UBR4 ENST00000375267 human ensembl 74_37 -1 known silent c.13605 p.V4535 1.000 NULL superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR4 HGNC ENSG00000127481 tier1 - - 87 0 0.00 78 20 20.41 UBR7 0 genome.wustl.edu 37 14 93676302 93676302 + Nonsense_Mutation SNP A A T TCGA-LN-A49P-01A-11D-A247-09 TCGA-LN-A49P-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b817460-a959-4426-b0e4-1ef0c5fa7a42 1909da38-51a6-4177-a899-14f1f61c0b69 14 93676302 93676302 A T SNP UBR7 ENST00000013070 human ensembl 74_37 +1 known nonsense c.283 p.R95* 1.000 pfam_Znf_N-recognin,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin pfam_Znf_N-recognin,superfamily_Znf_FYVE_PHD,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR7 HGNC ENSG00000012963 tier1 - - 72 0 0.00 76 26 25.49 UNC13B 0 genome.wustl.edu 37 9 35396854 35396854 + Missense_Mutation SNP G G A TCGA-LN-A49P-01A-11D-A247-09 TCGA-LN-A49P-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b817460-a959-4426-b0e4-1ef0c5fa7a42 1909da38-51a6-4177-a899-14f1f61c0b69 9 35396854 35396854 G A SNP UNC13B ENST00000378496 human ensembl 74_37 +1 known missense c.3205 p.V1069M 1.000 NULL pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13B HGNC ENSG00000198722 tier1 rs140663072 - 55 0 0.00 93 24 20.51 VCP 0 genome.wustl.edu 37 9 35059557 35059557 + Missense_Mutation SNP G G T TCGA-LN-A49P-01A-11D-A247-09 TCGA-LN-A49P-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b817460-a959-4426-b0e4-1ef0c5fa7a42 1909da38-51a6-4177-a899-14f1f61c0b69 9 35059557 35059557 G T SNP VCP ENST00000358901 human ensembl 74_37 -1 known missense c.1937 p.P646Q 1.000 pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_AAA_ATPase_CDC48 pfam_ATPase_AAA_core,pfam_CDC4_N-term_subdom,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_Cdc48_dom2,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-2,pfam_Vps4_C,superfamily_P-loop_NTPase,superfamily_Asp_de-COase-like_dom,smart_AAA+_ATPase,tigrfam_AAA_ATPase_CDC48 - no_errors VCP HGNC ENSG00000165280 40 0 0.00 47 3 6.00 VMP1 0 genome.wustl.edu 37 17 57889104 57889104 + Missense_Mutation SNP G G A TCGA-LN-A49P-01A-11D-A247-09 TCGA-LN-A49P-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b817460-a959-4426-b0e4-1ef0c5fa7a42 1909da38-51a6-4177-a899-14f1f61c0b69 17 57889104 57889104 G A SNP VMP1 ENST00000262291 human ensembl 74_37 +1 known missense c.869 p.G290D 1.000 NULL NULL - no_errors VMP1 HGNC ENSG00000062716 tier1 - - 60 0 0.00 67 13 16.25 VWF 0 genome.wustl.edu 37 12 6062682 6062682 + Missense_Mutation SNP C C T TCGA-LN-A49P-01A-11D-A247-09 TCGA-LN-A49P-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b817460-a959-4426-b0e4-1ef0c5fa7a42 1909da38-51a6-4177-a899-14f1f61c0b69 12 6062682 6062682 C T SNP VWF ENST00000261405 human ensembl 74_37 -1 known missense c.7966 p.G2656R 1.000 pirsf_VWF pirsf_VWF,pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C - no_errors VWF HGNC ENSG00000110799 tier1 - - 29 0 0.00 57 7 10.94 WNT9A 0 genome.wustl.edu 37 1 228111888 228111888 + Missense_Mutation SNP T T C TCGA-LN-A49P-01A-11D-A247-09 TCGA-LN-A49P-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b817460-a959-4426-b0e4-1ef0c5fa7a42 1909da38-51a6-4177-a899-14f1f61c0b69 1 228111888 228111888 T C SNP WNT9A ENST00000272164 human ensembl 74_37 -1 known missense c.566 p.K189R 1.000 pfam_Wnt,smart_Wnt pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt9a - no_errors WNT9A HGNC ENSG00000143816 tier1 - - 78 0 0.00 82 26 24.07 XIRP2 0 genome.wustl.edu 37 2 168115690 168115690 + Missense_Mutation SNP G G C TCGA-LN-A49P-01A-11D-A247-09 TCGA-LN-A49P-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b817460-a959-4426-b0e4-1ef0c5fa7a42 1909da38-51a6-4177-a899-14f1f61c0b69 2 168115690 168115690 G C SNP XIRP2 ENST00000420519 human ensembl 74_37 +1 known missense c.2733 p.K911N 0.002 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors XIRP2 HGNC ENSG00000163092 tier1 - - 83 0 0.00 88 18 16.98 ZNF441 0 genome.wustl.edu 37 19 11891849 11891849 + Missense_Mutation SNP T T G TCGA-LN-A49P-01A-11D-A247-09 TCGA-LN-A49P-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b817460-a959-4426-b0e4-1ef0c5fa7a42 1909da38-51a6-4177-a899-14f1f61c0b69 19 11891849 11891849 T G SNP ZNF441 ENST00000357901 human ensembl 74_37 +1 known missense c.1210 p.Y404D 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF441 HGNC ENSG00000197044 tier1 - - 51 0 0.00 50 17 25.37 ZNF479 0 genome.wustl.edu 37 7 57187818 57187818 + Missense_Mutation SNP C C T TCGA-LN-A49P-01A-11D-A247-09 TCGA-LN-A49P-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 4b817460-a959-4426-b0e4-1ef0c5fa7a42 1909da38-51a6-4177-a899-14f1f61c0b69 7 57187818 57187818 C T SNP ZNF479 ENST00000331162 human ensembl 74_37 -1 known missense c.1304 p.R435K 0.990 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 ZNF479 HGNC ENSG00000185177 65 0 0.00 68 5 6.85