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 ACOT6 0 genome.wustl.edu 37 14 74086064 74086064 + Missense_Mutation SNP G G A TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 14 74086064 74086064 G A SNP ACOT6 ENST00000381139 human ensembl 74_37 +1 known missense c.145 p.A49T 0.000 pfam_BAAT_C,pfam_Serine_hydrolase_FSH pfam_BAAT_C,pfam_Serine_hydrolase_FSH - no_errors ACOT6 HGNC ENSG00000205669 47 0 0.00 67 4 5.63 ACTL8 0 genome.wustl.edu 37 1 18152456 18152456 + Silent SNP C C T TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 1 18152456 18152456 C T SNP ACTL8 ENST00000375406 human ensembl 74_37 +1 known silent c.543 p.S181 0.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTL8 HGNC ENSG00000117148 56 0 0.00 53 4 7.02 ACTL9 0 genome.wustl.edu 37 19 8808930 8808930 + Missense_Mutation SNP A A C TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 19 8808930 8808930 A C SNP ACTL9 ENST00000324436 human ensembl 74_37 -1 known missense c.122 p.V41G 0.942 NULL pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTL9 HGNC ENSG00000181786 tier1 - - 114 0 0.00 114 8 6.56 ALOX12 0 genome.wustl.edu 37 17 6904970 6904970 + Nonsense_Mutation SNP C C G TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 17 6904970 6904970 C G SNP ALOX12 ENST00000251535 human ensembl 74_37 +1 known nonsense c.1001 p.S334* 0.946 pfam_LipOase_C,superfamily_LipOase_C pfam_LipOase_C,pfam_PLAT/LH2_dom,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,prints_LipOase_mml,prints_LipOase_C - no_errors ALOX12 HGNC ENSG00000108839 tier1 - - 69 0 0.00 48 21 30.00 ALOX15 0 genome.wustl.edu 37 17 4536468 4536468 + Missense_Mutation SNP G G A TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 17 4536468 4536468 G A SNP ALOX15 ENST00000545513 human ensembl 74_37 -1 known missense c.1457 p.A486V 0.479 pfam_LipOase_C,superfamily_LipOase_C pfam_LipOase_C,pfam_PLAT/LH2_dom,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,prints_LipOase_mml,prints_LipOase_C - no_errors ALOX15 HGNC ENSG00000161905 42 0 0.00 37 2 5.13 ANKHD1 0 genome.wustl.edu 37 5 139781670 139781670 + Missense_Mutation SNP G G T TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 5 139781670 139781670 G T SNP ANKHD1 ENST00000297183 human ensembl 74_37 +1 known missense c.118 p.G40W 1.000 NULL pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt - no_errors ANKHD1 HGNC ENSG00000131503 tier1 - - 21 0 0.00 19 4 17.39 ANKRD2 0 genome.wustl.edu 37 10 99338347 99338347 + Silent SNP C C T TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 10 99338347 99338347 C T SNP ANKRD2 ENST00000307518 human ensembl 74_37 +1 known silent c.522 p.A174 0.003 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD2 HGNC ENSG00000165887 tier1 rs140424419 - 40 0 0.00 25 20 44.44 ANKRD20A5P 0 genome.wustl.edu 37 18 14227755 14227755 + RNA SNP G G A TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 18 14227755 14227755 G A SNP ANKRD20A5P ENST00000577614 human ensembl 74_37 +1 known rna NULL NULL 0.556 - - - no_errors ANKRD20A5P HGNC ENSG00000186481 tier1 - - 183 0 0.00 130 83 38.97 ANKRD30B 0 genome.wustl.edu 37 18 14850252 14850252 + Silent SNP C C G TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 18 14850252 14850252 C G SNP ANKRD30B ENST00000358984 human ensembl 74_37 +1 known silent c.3078 p.V1026 0.904 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD30B HGNC ENSG00000180777 tier1 - - 58 0 0.00 55 16 22.54 APC 0 genome.wustl.edu 37 5 112176831 112176831 + Missense_Mutation SNP C C T TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 5 112176831 112176831 C T SNP APC ENST00000257430 human ensembl 74_37 +1 known missense c.5540 p.T1847M 1.000 pfam_APC_Cys-rich_rpt pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors APC HGNC ENSG00000134982 tier1 - - 67 0 0.00 28 14 33.33 ATP13A3 0 genome.wustl.edu 37 3 194146182 194146182 + Missense_Mutation SNP T T C TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 3 194146182 194146182 T C SNP ATP13A3 ENST00000256031 human ensembl 74_37 -1 known missense c.3202 p.I1068V 1.000 tigrfam_ATPase_P-typ_Cation_typ_V pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_Cation_typ_V,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP13A3 HGNC ENSG00000133657 tier1 - - 47 0 0.00 48 17 26.15 ATP5G2 0 genome.wustl.edu 37 12 54063706 54063706 + Silent SNP G G A TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 12 54063706 54063706 G A SNP ATP5G2 ENST00000394349 human ensembl 74_37 -1 known silent c.237 p.S79 0.997 NULL pfam_ATPase_proteolipid_c_like_dom,superfamily_ATPase_proteolipid_c_like_dom,prints_ATPase_F0-cplx_csu - no_errors ATP5G2 HGNC ENSG00000135390 tier1 - - 52 0 0.00 39 4 9.30 BCAS4 0 genome.wustl.edu 37 20 49434786 49434786 + Silent SNP C C T TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 20 49434786 49434786 C T SNP BCAS4 ENST00000358791 human ensembl 74_37 +1 known silent c.219 p.L73 0.016 NULL NULL - no_errors BCAS4 HGNC ENSG00000124243 tier1 rs200095102 - 54 0 0.00 53 12 18.46 C9orf135 0 genome.wustl.edu 37 9 72521031 72521031 + Missense_Mutation SNP T T A TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 9 72521031 72521031 T A SNP C9orf135 ENST00000377197 human ensembl 74_37 +1 known missense c.669 p.S223R 0.000 NULL NULL - no_errors C9orf135 HGNC ENSG00000204711 tier1 - - 86 0 0.00 53 26 32.91 CAMK2A 0 genome.wustl.edu 37 5 149637177 149637177 + Missense_Mutation SNP C C T TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 5 149637177 149637177 C T SNP CAMK2A ENST00000398376 human ensembl 74_37 -1 known missense c.221 p.R74Q 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_Ca/CaM-dep_prot_kinase-assoc,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 CAMK2A HGNC ENSG00000070808 36 0 0.00 54 4 6.90 CAPN14 0 genome.wustl.edu 37 2 31409352 31409352 + Splice_Site SNP C C T TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 2 31409352 31409352 C T SNP CAPN14 ENST00000444918 human ensembl 74_37 -1 known splice_site c.1588-1 e15-1 0.894 - - - no_errors CAPN14 HGNC ENSG00000214711 86 0 0.00 74 4 5.13 CASP5 0 genome.wustl.edu 37 11 104879616 104879616 + Missense_Mutation SNP G G T TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 11 104879616 104879616 G T SNP CASP5 ENST00000393141 human ensembl 74_37 -1 known missense c.138 p.H46Q 0.000 NULL pfam_Pept_C14_caspase,pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta,pfscan_CARD,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core - no_errors CASP5 HGNC ENSG00000137757 95 0 0.00 65 4 5.80 CCDC130 0 genome.wustl.edu 37 19 13872353 13872353 + RNA SNP C C A TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 19 13872353 13872353 C A SNP CCDC130 ENST00000587019 human ensembl 74_37 +1 known rna NULL NULL 0.064 - - - no_errors CCDC130 HGNC ENSG00000104957 tier1 - - 26 0 0.00 14 13 48.15 CDK9 0 genome.wustl.edu 37 9 130548401 130548403 + In_Frame_Del DEL GGC GGC - TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 GGC GGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 9 130548401 130548403 GGC - DEL CDK9 ENST00000373265 human ensembl 74_37 +1 known in_frame_del c.325_327 p.G112in_frame_del 0.050:0.250:0.237 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 CDK9 HGNC ENSG00000136807 tier1 10 0 0.00 4 2 33.33 CEL 0 genome.wustl.edu 37 9 135940034 135940034 + Silent SNP G G A TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 9 135940034 135940034 G A SNP CEL ENST00000372080 human ensembl 74_37 +1 known silent c.234 p.L78 1.000 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CEL HGNC ENSG00000170835 tier1 - - 56 0 0.00 34 7 17.07 CHD4 0 genome.wustl.edu 37 12 6682395 6682395 + Missense_Mutation SNP C C T TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 12 6682395 6682395 C T SNP CHD4 ENST00000309577 human ensembl 74_37 -1 known missense c.5486 p.R1829Q 1.000 pfam_CHD_C2 pfam_CHD_C2,pfam_DUF1086,pfam_SNF2_N,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,superfamily_Homeodomain-like,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD4 HGNC ENSG00000111642 tier1 - - 54 0 0.00 34 22 39.29 CHML 0 genome.wustl.edu 37 1 241797239 241797239 + Silent SNP A A G TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 1 241797239 241797239 A G SNP CHML ENST00000366553 human ensembl 74_37 -1 known silent c.1830 p.P610 1.000 pirsf_Rab_geranylTrfase_A_euk,prints_Rab_escort pfam_GDP_dissociation_inhibitor,pirsf_Rab_geranylTrfase_A_euk,prints_Rab_escort,prints_GDP_dissociation_inhibitor - no_errors CHML HGNC ENSG00000203668 87 0 0.00 75 4 5.06 CHPF2 0 genome.wustl.edu 37 7 150932436 150932436 + Frame_Shift_Del DEL C C - TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 7 150932436 150932436 C - DEL CHPF2 ENST00000035307 human ensembl 74_37 +1 known frame_shift_del c.566 p.R191fs 1.000 pfam_Fringe-like pfam_Chond_GalNAc,pfam_Fringe-like - no_errors CHPF2 HGNC ENSG00000033100 tier1 35 0 0.00 38 2 5.00 CHST8 0 genome.wustl.edu 37 19 34263467 34263467 + Silent SNP C C T TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 19 34263467 34263467 C T SNP CHST8 ENST00000262622 human ensembl 74_37 +1 known silent c.774 p.R258 0.385 pfam_Sulfotransferase pfam_Sulfotransferase - no_errors CHST8 HGNC ENSG00000124302 tier1 - - 87 0 0.00 50 25 32.89 CLSPN 0 genome.wustl.edu 37 1 36214021 36214021 + Silent SNP G G C TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 1 36214021 36214021 G C SNP CLSPN ENST00000318121 human ensembl 74_37 -1 known silent c.2457 p.V819 1.000 NULL NULL - no_errors CLSPN HGNC ENSG00000092853 tier1 - - 49 0 0.00 36 9 20.00 CLSTN1 0 genome.wustl.edu 37 1 9789388 9789388 + RNA SNP G G C TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 1 9789388 9789388 G C SNP CLSTN1 ENST00000477264 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CLSTN1 HGNC ENSG00000171603 tier1 - - 41 0 0.00 32 6 15.79 COL11A1 0 genome.wustl.edu 37 1 103471858 103471858 + Missense_Mutation SNP A A G TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 1 103471858 103471858 A G SNP COL11A1 ENST00000358392 human ensembl 74_37 -1 known missense c.1733 p.V578A 0.999 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL11A1 HGNC ENSG00000060718 tier1 - - 65 0 0.00 38 16 29.63 CPSF3L 0 genome.wustl.edu 37 1 1249245 1249245 + Missense_Mutation SNP G G A TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 1 1249245 1249245 G A SNP CPSF3L ENST00000540437 human ensembl 74_37 -1 known missense c.842 p.A281V 1.000 pfam_Beta_Casp pfam_Beta_Casp,pfam_Beta-lactamas-like,pfam_RMMBL,smart_Beta-lactamas-like - no_errors CPSF3L HGNC ENSG00000127054 tier1 - - 57 0 0.00 49 5 9.26 CPT1B 0 genome.wustl.edu 37 22 51010650 51010650 + Silent SNP G G T TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 22 51010650 51010650 G T SNP CPT1B ENST00000312108 human ensembl 74_37 -1 known silent c.1440 p.I480 0.999 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CPT1B HGNC ENSG00000205560 tier1 - - 53 0 0.00 49 4 7.55 CSE1L 0 genome.wustl.edu 37 20 47682961 47682961 + Missense_Mutation SNP G G T TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 20 47682961 47682961 G T SNP CSE1L ENST00000262982 human ensembl 74_37 +1 known missense c.390 p.L130F 0.894 superfamily_ARM-type_fold pfam_CAS_CSE1_C,pfam_Cse1,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors CSE1L HGNC ENSG00000124207 58 0 0.00 73 4 5.19 CYP24A1 0 genome.wustl.edu 37 20 52782302 52782302 + Missense_Mutation SNP G G T TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 20 52782302 52782302 G T SNP CYP24A1 ENST00000216862 human ensembl 74_37 -1 known missense c.711 p.N237K 1.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_CYP24A_mit,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450 - no_errors CYP24A1 HGNC ENSG00000019186 tier1 - - 69 0 0.00 56 4 6.67 CYP2C18 0 genome.wustl.edu 37 10 96495128 96495128 + Missense_Mutation SNP T T A TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 10 96495128 96495128 T A SNP CYP2C18 ENST00000285979 human ensembl 74_37 +1 known missense c.1400 p.I467N 0.006 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP2C18 HGNC ENSG00000108242 tier1 - - 84 0 0.00 81 23 22.12 CYP2U1 0 genome.wustl.edu 37 4 108866175 108866175 + Silent SNP C C T TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 4 108866175 108866175 C T SNP CYP2U1 ENST00000332884 human ensembl 74_37 +1 known silent c.540 p.F180 1.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B,prints_Cyt_P450_E_grp-I_CYP2D-like - no_errors CYP2U1 HGNC ENSG00000155016 tier1 - - 84 0 0.00 46 14 23.33 CYP3A5 0 genome.wustl.edu 37 7 99273820 99273820 + Missense_Mutation SNP C C T TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 7 99273820 99273820 C T SNP CYP3A5 ENST00000222982 human ensembl 74_37 -1 known missense c.83 p.R28H 0.000 NULL pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_CYP3A,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B - no_errors CYP3A5 HGNC ENSG00000106258 78 0 0.00 57 3 5.00 DDX51 0 genome.wustl.edu 37 12 132625264 132625264 + Missense_Mutation SNP C C T TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 12 132625264 132625264 C T SNP DDX51 ENST00000397333 human ensembl 74_37 -1 known missense c.1457 p.C486Y 1.000 superfamily_P-loop_NTPase pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX51 HGNC ENSG00000185163 91 0 0.00 69 4 5.48 DENND6A 0 genome.wustl.edu 37 3 57647252 57647252 + Silent SNP A A T TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 3 57647252 57647252 A T SNP DENND6A ENST00000311128 human ensembl 74_37 -1 known silent c.540 p.P180 0.815 pfam_Afi1_N,pfam_ABL9/DENND6_dom,pfam_DENN_dom pfam_Afi1_N,pfam_ABL9/DENND6_dom,pfam_DENN_dom - no_errors DENND6A HGNC ENSG00000174839 49 0 0.00 36 2 5.26 DGKA 0 genome.wustl.edu 37 12 56334726 56334726 + Missense_Mutation SNP A A G TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 12 56334726 56334726 A G SNP DGKA ENST00000331886 human ensembl 74_37 +1 known missense c.1063 p.M355V 0.000 NULL pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_EF_hand_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_EF_hand_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors DGKA HGNC ENSG00000065357 tier1 - - 48 0 0.00 31 11 26.19 DIS3L 0 genome.wustl.edu 37 15 66610849 66610849 + Nonsense_Mutation SNP G G T TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 15 66610849 66610849 G T SNP DIS3L ENST00000319212 human ensembl 74_37 +1 known nonsense c.1057 p.E353* 1.000 NULL NULL - no_errors DIS3L HGNC ENSG00000166938 tier1 - - 86 0 0.00 55 33 37.50 DNAH3 0 genome.wustl.edu 37 16 21033361 21033361 + Missense_Mutation SNP T T A TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 16 21033361 21033361 T A SNP DNAH3 ENST00000261383 human ensembl 74_37 -1 known missense c.5708 p.K1903I 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000158486 tier1 - - 26 0 0.00 28 7 20.00 DNAH5 0 genome.wustl.edu 37 5 13737400 13737400 + Missense_Mutation SNP C C G TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 5 13737400 13737400 C G SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known missense c.11416 p.E3806Q 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 56 0 0.00 47 3 6.00 DNAH8 0 genome.wustl.edu 37 6 38828241 38828241 + Missense_Mutation SNP G G T TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 6 38828241 38828241 G T SNP DNAH8 ENST00000359357 human ensembl 74_37 +1 known missense c.5316 p.M1772I 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH8 HGNC ENSG00000124721 tier1 - - 54 0 0.00 32 25 43.86 DPEP1 0 genome.wustl.edu 37 16 89704484 89704484 + Missense_Mutation SNP G G A TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 16 89704484 89704484 G A SNP DPEP1 ENST00000261615 human ensembl 74_37 +1 known missense c.1090 p.E364K 0.012 NULL pfam_Peptidase_M19 - no_errors DPEP1 HGNC ENSG00000015413 tier1 rs147872447 - 91 0 0.00 80 9 10.11 DRGX 0 genome.wustl.edu 37 10 50598228 50598228 + Missense_Mutation SNP G G C TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 10 50598228 50598228 G C SNP DRGX ENST00000434016 human ensembl 74_37 -1 known missense c.200 p.T67S 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_OAR_dom,pfscan_Homeobox_dom - no_errors DRGX HGNC ENSG00000165606 tier1 - - 71 0 0.00 24 12 33.33 DRP2 0 genome.wustl.edu 37 X 100497358 100497358 + Missense_Mutation SNP G G T TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 X 100497358 100497358 G T SNP DRP2 ENST00000395209 human ensembl 74_37 +1 known missense c.873 p.L291F 0.998 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin-related_2 pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_Znf_ZZ,pfam_Spectrin_repeat,pfam_WW_dom,superfamily_WW_dom,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin-related_2,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors DRP2 HGNC ENSG00000102385 34 0 0.00 33 4 10.81 DYNC1H1 0 genome.wustl.edu 37 14 102486374 102486374 + Silent SNP C C T TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 14 102486374 102486374 C T SNP DYNC1H1 ENST00000360184 human ensembl 74_37 +1 known silent c.8488 p.L2830 1.000 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase - no_errors DYNC1H1 HGNC ENSG00000197102 tier1 - - 77 0 0.00 63 22 25.88 EBF1 0 genome.wustl.edu 37 5 158140134 158140134 + Missense_Mutation SNP C C T TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 5 158140134 158140134 C T SNP EBF1 ENST00000313708 human ensembl 74_37 -1 known missense c.1213 p.A405T 1.000 superfamily_bHLH_dom pfam_IPT,superfamily_Ig_E-set,superfamily_bHLH_dom,smart_IPT - no_errors EBF1 HGNC ENSG00000164330 tier1 - - 60 0 0.00 79 7 8.05 ELP2 0 genome.wustl.edu 37 18 33744537 33744537 + Missense_Mutation SNP G G A TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 18 33744537 33744537 G A SNP ELP2 ENST00000358232 human ensembl 74_37 +1 known missense c.1861 p.A621T 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors ELP2 HGNC ENSG00000134759 tier1 - - 131 0 0.00 76 4 5.00 EML2 0 genome.wustl.edu 37 19 46129982 46129982 + Missense_Mutation SNP T T A TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 19 46129982 46129982 T A SNP EML2 ENST00000587152 human ensembl 74_37 -1 known missense c.1325 p.K442M 1.000 superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_HELP,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_Quinoprot_gluc/sorb_DH,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML2 HGNC ENSG00000125746 tier1 - - 87 0 0.00 54 26 32.50 ENSG00000221007 0 genome.wustl.edu 37 20 56493976 56493976 + RNA SNP A A C TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 20 56493976 56493976 A C SNP ENSG00000221007 ENST00000408080 human ensembl 74_37 +1 novel rna NULL NULL 0.001 - - - no_errors AL354984.1 Clone_based_ensembl_gene ENSG00000221007 tier1 - - 65 0 0.00 75 4 5.06 ENSG00000232274 0 genome.wustl.edu 37 1 143210535 143210535 + RNA SNP G G C TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 1 143210535 143210535 G C SNP ENSG00000232274 ENST00000412204 human ensembl 74_37 -1 known rna NULL NULL 0.988 - - - no_errors RP11-782C8.2 Clone_based_vega_gene ENSG00000232274 tier1 - - 59 0 0.00 38 12 24.00 ENSG00000261238 0 genome.wustl.edu 37 16 51183171 51183171 + RNA DEL T T - TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 16 51183171 51183171 T - DEL ENSG00000261238 ENST00000570060 human ensembl 74_37 +1 known rna NULL NULL 0.007 - - - no_errors AC009166.5 Clone_based_vega_gene ENSG00000261238 tier1 31 0 0.00 17 2 10.53 EYA3 0 genome.wustl.edu 37 1 28362085 28362085 + Missense_Mutation SNP C C T TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 1 28362085 28362085 C T SNP EYA3 ENST00000373871 human ensembl 74_37 -1 known missense c.331 p.A111T 1.000 NULL pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA - no_errors EYA3 HGNC ENSG00000158161 tier1 - - 97 0 0.00 74 5 6.33 FAM135A 0 genome.wustl.edu 37 6 71236398 71236398 + Missense_Mutation SNP A A C TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 6 71236398 71236398 A C SNP FAM135A ENST00000418814 human ensembl 74_37 +1 known missense c.3611 p.Q1204P 1.000 NULL pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like,pfam_LACT/PDAT_acylTrfase - no_errors FAM135A HGNC ENSG00000082269 17 0 0.00 18 9 33.33 FAM178A 0 genome.wustl.edu 37 10 102684710 102684710 + Missense_Mutation SNP C C A TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 10 102684710 102684710 C A SNP FAM178A ENST00000370269 human ensembl 74_37 +1 known missense c.1952 p.S651Y 0.779 NULL NULL - no_errors FAM178A HGNC ENSG00000119906 tier1 - - 41 0 0.00 25 12 32.43 FAM187A 0 genome.wustl.edu 37 17 42981907 42981907 + Missense_Mutation SNP G G A TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 17 42981907 42981907 G A SNP FAM187A ENST00000331733 human ensembl 74_37 +1 known missense c.710 p.R237Q 0.851 NULL pfam_Ig_V-set,pfscan_Ig-like_dom - no_errors FAM187A HGNC ENSG00000214447 tier1 - - 46 0 0.00 17 15 46.88 FAM86DP 0 genome.wustl.edu 37 3 75478287 75478287 + RNA SNP C C A TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 3 75478287 75478287 C A SNP FAM86DP ENST00000459803 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors FAM86DP HGNC ENSG00000244026 tier1 - - 243 0 0.00 75 60 44.44 FAT3 0 genome.wustl.edu 37 11 92085866 92085866 + Nonsense_Mutation SNP C C A TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 11 92085866 92085866 C A SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known nonsense c.588 p.Y196* 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 tier1 - - 45 0 0.00 14 8 36.36 FBN3 0 genome.wustl.edu 37 19 8203386 8203386 + Missense_Mutation SNP C C T TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 19 8203386 8203386 C T SNP FBN3 ENST00000270509 human ensembl 74_37 -1 known missense c.928 p.G310S 0.999 pfam_TB_dom,superfamily_TB_dom,pirsf_FBN pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN3 HGNC ENSG00000142449 tier1 - - 38 0 0.00 24 12 33.33 FBXL19 0 genome.wustl.edu 37 16 30958499 30958499 + Missense_Mutation SNP C C T TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 16 30958499 30958499 C T SNP FBXL19 ENST00000380310 human ensembl 74_37 +1 known missense c.2033 p.P678L 1.000 NULL pfam_Znf_CXXC,pfam_F-box_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_F-box_dom,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors FBXL19 HGNC ENSG00000099364 tier1 - - 53 0 0.00 35 4 10.26 FKBP7 0 genome.wustl.edu 37 2 179330499 179330499 + Nonstop_Mutation SNP A A G TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 2 179330499 179330499 A G SNP FKBP7 ENST00000424785 human ensembl 74_37 -1 known nonstop c.667 p.*223Q 1.000 NULL pfam_PPIase_FKBP_dom,pfscan_EF_hand_dom,pfscan_PPIase_FKBP_dom - no_errors FKBP7 HGNC ENSG00000079150 tier1 - - 70 0 0.00 41 15 26.79 FLG 0 genome.wustl.edu 37 1 152283278 152283278 + Missense_Mutation SNP G G C TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 1 152283278 152283278 G C SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.4084 p.Q1362E 0.000 pfam_Filaggrin pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 tier1 - - 246 0 0.00 164 53 24.42 FLJ33360 0 genome.wustl.edu 37 5 6312341 6312341 + RNA DEL T T - TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 5 6312341 6312341 T - DEL FLJ33360 ENST00000507444 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CTD-2324F15.2 Clone_based_vega_gene ENSG00000250490 tier1 44 0 0.00 34 7 17.07 FLJ36000 0 genome.wustl.edu 37 17 21909575 21909575 + RNA SNP G G C TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 17 21909575 21909575 G C SNP FLJ36000 ENST00000581223 human ensembl 74_37 +1 known rna NULL NULL 0.017 - - - no_errors RP11-744K17.9 Clone_based_vega_gene ENSG00000266795 tier1 - - 30 0 0.00 19 9 32.14 FOPNL 0 genome.wustl.edu 37 16 15977900 15977900 + Missense_Mutation SNP T T G TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 16 15977900 15977900 T G SNP FOPNL ENST00000255759 human ensembl 74_37 -1 known missense c.191 p.N64T 1.000 pfam_FOP_dimerisation-dom_N,smart_LisH_dimerisation,pfscan_LisH_dimerisation pfam_FOP_dimerisation-dom_N,smart_LisH_dimerisation,pfscan_LisH_dimerisation - no_errors FOPNL HGNC ENSG00000133393 tier1 - - 68 0 0.00 48 23 32.39 FOXO6 0 genome.wustl.edu 37 1 41847433 41847433 + Missense_Mutation SNP A A G TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 1 41847433 41847433 A G SNP FOXO6 ENST00000372591 human ensembl 74_37 +1 putative missense c.560 p.N187S 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXO6 HGNC ENSG00000204060 tier1 - - 128 0 0.00 71 35 33.02 FPGT 0 genome.wustl.edu 37 1 74670421 74670421 + Missense_Mutation SNP G G T TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 1 74670421 74670421 G T SNP FPGT ENST00000370898 human ensembl 74_37 +1 known missense c.729 p.K243N 1.000 pfam_Fucokinase,pirsf_Fucose-1-phosphate_GuaTrfase pfam_Fucokinase,superfamily_Trimer_LpxA-like,pirsf_Fucose-1-phosphate_GuaTrfase - no_errors FPGT HGNC ENSG00000254685 34 0 0.00 27 2 6.90 FRMPD1 0 genome.wustl.edu 37 9 37744831 37744831 + Silent SNP C C T TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 9 37744831 37744831 C T SNP FRMPD1 ENST00000377765 human ensembl 74_37 +1 known silent c.2802 p.I934 0.623 NULL pfam_FERM_central,pfam_PDZ,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ - no_errors FRMPD1 HGNC ENSG00000070601 66 0 0.00 30 2 6.25 GABRG2 0 genome.wustl.edu 37 5 161522567 161522567 + Missense_Mutation SNP T T A TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 5 161522567 161522567 T A SNP GABRG2 ENST00000356592 human ensembl 74_37 +1 known missense c.326 p.M109K 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,prints_GABAA_rcpt,prints_GABBAg2_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRG2 HGNC ENSG00000113327 tier1 - - 62 0 0.00 45 8 15.09 GBP5 0 genome.wustl.edu 37 1 89730518 89730518 + Missense_Mutation SNP C C T TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 1 89730518 89730518 C T SNP GBP5 ENST00000343435 human ensembl 74_37 -1 known missense c.1000 p.D334N 1.000 pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C,superfamily_P-loop_NTPase - no_errors GBP5 HGNC ENSG00000154451 tier1 rs143883598 - 110 0 0.00 93 33 26.19 GHITM 0 genome.wustl.edu 37 10 85901340 85901340 + Silent SNP G G A TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 10 85901340 85901340 G A SNP GHITM ENST00000372134 human ensembl 74_37 +1 known silent c.84 p.V28 0.995 NULL pfam_Bax_inhibitor_1-related - no_errors GHITM HGNC ENSG00000165678 tier1 - - 104 0 0.00 46 21 31.34 GOLGA8M 0 genome.wustl.edu 37 15 28951806 28951806 + Missense_Mutation SNP C C G TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 15 28951806 28951806 C G SNP GOLGA8M ENST00000340249 human ensembl 74_37 -1 known missense c.388 p.E130Q 0.021 NULL NULL - no_errors GOLGA8M HGNC ENSG00000188626 tier1 - - 74 0 0.00 55 11 16.67 GRAMD1B 0 genome.wustl.edu 37 11 123465506 123465506 + Nonsense_Mutation SNP G G A TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 11 123465506 123465506 G A SNP GRAMD1B ENST00000322282 human ensembl 74_37 +1 known nonsense c.404 p.W135* 1.000 pfam_GRAM,smart_GRAM pfam_GRAM,smart_GRAM - no_errors GRAMD1B HGNC ENSG00000023171 tier1 - - 44 0 0.00 15 16 51.61 GRIA2 0 genome.wustl.edu 37 4 158281060 158281060 + Missense_Mutation SNP G G A TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 4 158281060 158281060 G A SNP GRIA2 ENST00000264426 human ensembl 74_37 +1 known missense c.2056 p.A686T 1.000 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIA2 HGNC ENSG00000120251 87 0 0.00 56 3 5.08 GRID2IP 0 genome.wustl.edu 37 7 6541500 6541500 + Missense_Mutation SNP G G A TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 7 6541500 6541500 G A SNP GRID2IP ENST00000457091 human ensembl 74_37 -1 putative missense c.3311 p.A1104V 0.998 pfam_FH2_Formin,smart_FH2_Formin pfam_FH2_Formin,pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_FH2_Formin,pfscan_PDZ - no_errors GRID2IP HGNC ENSG00000215045 tier1 - - 33 0 0.00 22 3 12.00 GRXCR1 0 genome.wustl.edu 37 4 42965095 42965095 + Nonsense_Mutation SNP C C T TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 4 42965095 42965095 C T SNP GRXCR1 ENST00000399770 human ensembl 74_37 +1 known nonsense c.571 p.R191* 0.935 pfam_Glutaredoxin,superfamily_Thioredoxin-like_fold pfam_Glutaredoxin,superfamily_Thioredoxin-like_fold,superfamily_HSP_DnaJ_Cys-rich_dom - no_errors GRXCR1 HGNC ENSG00000215203 tier1 - - 112 0 0.00 43 22 33.85 GSK3B 0 genome.wustl.edu 37 3 119582439 119582439 + Missense_Mutation SNP C C T TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 3 119582439 119582439 C T SNP GSK3B ENST00000316626 human ensembl 74_37 -1 known missense c.962 p.R321Q 1.000 pfam_Prot_kinase_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,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors GSK3B HGNC ENSG00000082701 tier1 - - 67 0 0.00 32 23 41.82 HCN1 0 genome.wustl.edu 37 5 45262772 45262772 + Missense_Mutation SNP G G A TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 5 45262772 45262772 G A SNP HCN1 ENST00000303230 human ensembl 74_37 -1 known missense c.1924 p.P642S 0.992 NULL pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG - no_errors HCN1 HGNC ENSG00000164588 tier1 - - 65 0 0.00 56 14 20.00 HEYL 0 genome.wustl.edu 37 1 40092733 40092733 + Missense_Mutation SNP C C T TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 1 40092733 40092733 C T SNP HEYL ENST00000372852 human ensembl 74_37 -1 known missense c.433 p.V145I 0.465 pfam_Orange,smart_Orange_subgr,pfscan_Orange pfam_bHLH_dom,pfam_Orange,superfamily_bHLH_dom,smart_bHLH_dom,smart_Orange_subgr,pfscan_Orange,pfscan_bHLH_dom - no_errors HEYL HGNC ENSG00000163909 tier1 - - 64 0 0.00 36 16 30.77 HORMAD1 0 genome.wustl.edu 37 1 150671191 150671191 + Missense_Mutation SNP G G A TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 1 150671191 150671191 G A SNP HORMAD1 ENST00000361824 human ensembl 74_37 -1 known missense c.1124 p.S375F 0.600 NULL pfam_HORMA_DNA-bd,superfamily_HORMA_DNA-bd,pfscan_HORMA_DNA-bd - no_errors HORMAD1 HGNC ENSG00000143452 tier1 - - 94 0 0.00 67 26 27.96 HOXC9 0 genome.wustl.edu 37 12 54394503 54394503 + Silent SNP G G A TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 12 54394503 54394503 G A SNP HOXC9 ENST00000303450 human ensembl 74_37 +1 known silent c.531 p.L177 1.000 pfam_Hox9_activation_N,superfamily_Homeodomain-like,pirsf_Homeobox_Hox9 pfam_Hox9_activation_N,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pirsf_Homeobox_Hox9,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXC9 HGNC ENSG00000180806 tier1 - - 22 0 0.00 14 5 26.32 HSP90B1 0 genome.wustl.edu 37 12 104337535 104337535 + Missense_Mutation SNP C C G TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 12 104337535 104337535 C G SNP HSP90B1 ENST00000299767 human ensembl 74_37 +1 known missense c.1910 p.S637C 1.000 pirsf_Hsp90_fam,pfam_Hsp90_fam pirsf_Hsp90_fam,pfam_Hsp90_fam,pfam_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_HATPase_ATP-bd,smart_HATPase_ATP-bd,prints_Hsp90_N - no_errors HSP90B1 HGNC ENSG00000166598 tier1 - - 87 0 0.00 81 11 11.96 IGF1R 0 genome.wustl.edu 37 15 99500554 99500554 + Silent SNP C C G TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 15 99500554 99500554 C G SNP IGF1R ENST00000268035 human ensembl 74_37 +1 known silent c.3987 p.P1329 0.026 pirsf_Tyr_kinase_insulin-like_rcpt pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom - no_errors IGF1R HGNC ENSG00000140443 64 0 0.00 48 3 5.88 INTS2 0 genome.wustl.edu 37 17 59955383 59955383 + Missense_Mutation SNP G G A TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 17 59955383 59955383 G A SNP INTS2 ENST00000444766 human ensembl 74_37 -1 known missense c.2345 p.S782F 1.000 NULL NULL - no_errors INTS2 HGNC ENSG00000108506 tier1 - - 47 0 0.00 32 20 38.46 IREB2 0 genome.wustl.edu 37 15 78790410 78790410 + Silent SNP G G A TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 15 78790410 78790410 G A SNP IREB2 ENST00000258886 human ensembl 74_37 +1 known silent c.2817 p.S939 0.028 superfamily_Aconitase/3IPM_dehydase_swvl,tigrfam_Aconitase/Fe_reg_prot_2 pfam_Acoase/IPM_deHydtase_lsu_aba,pfam_AconitaseA/IPMdHydase_ssu_swvl,superfamily_Acoase/IPM_deHydtase_lsu_aba,superfamily_Aconitase/3IPM_dehydase_swvl,prints_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase/Fe_reg_prot_2 - no_errors IREB2 HGNC ENSG00000136381 tier1 rs144816277 - 46 0 0.00 42 6 12.50 ITGAE 0 genome.wustl.edu 37 17 3665243 3665243 + Frame_Shift_Del DEL C C - TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 17 3665243 3665243 C - DEL ITGAE ENST00000263087 human ensembl 74_37 -1 known frame_shift_del c.281 p.G94fs 0.517 NULL pfam_Integrin_alpha-2,pfam_VWF_A,pfam_Integrin_alpha_C_CS,smart_VWF_A,smart_Int_alpha_beta-p,prints_Integrin_alpha,pfscan_VWF_A - no_errors ITGAE HGNC ENSG00000083457 tier1 18 0 0.00 22 2 8.33 KCNA5 0 genome.wustl.edu 37 12 5154277 5154277 + Missense_Mutation SNP G G A TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 12 5154277 5154277 G A SNP KCNA5 ENST00000252321 human ensembl 74_37 +1 known missense c.964 p.D322N 0.998 NULL pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,pfam_PKD1_2_channel,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.5,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA5 HGNC ENSG00000130037 30 0 0.00 14 3 17.65 KDM1A 0 genome.wustl.edu 37 1 23395626 23395626 + Silent SNP G G A TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 1 23395626 23395626 G A SNP KDM1A ENST00000542151 human ensembl 74_37 +1 known silent c.1395 p.L465 1.000 pfam_Amino_oxidase,pirsf_Hist_Lys-spec_deMease pfam_Amino_oxidase,pfam_SWIRM,pfam_FAD-dep_OxRdtase,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_FAD_bind_dom,superfamily_Homeodomain-like,pirsf_Hist_Lys-spec_deMease,pfscan_SWIRM - no_errors KDM1A HGNC ENSG00000004487 tier1 - - 89 0 0.00 50 22 30.56 KDM2B 0 genome.wustl.edu 37 12 121877875 121877875 + Missense_Mutation SNP T T A TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 12 121877875 121877875 T A SNP KDM2B ENST00000377071 human ensembl 74_37 -1 known missense c.3614 p.Q1205L 1.000 NULL pfam_Znf_CXXC,pfam_F-box_dom,pfam_JmjC_dom,superfamily_Znf_FYVE_PHD,smart_JmjC_dom,smart_Znf_PHD,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors KDM2B HGNC ENSG00000089094 tier1 - - 47 0 0.00 36 8 18.18 KIAA1033 0 genome.wustl.edu 37 12 105520920 105520920 + Missense_Mutation SNP C C A TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 12 105520920 105520920 C A SNP KIAA1033 ENST00000332180 human ensembl 74_37 +1 known missense c.1052 p.T351N 1.000 NULL NULL - no_errors KIAA1033 HGNC ENSG00000136051 tier1 - - 130 0 0.00 108 33 23.40 KIAA1244 0 genome.wustl.edu 37 6 138550974 138550974 + Silent SNP G G A TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 6 138550974 138550974 G A SNP KIAA1244 ENST00000251691 human ensembl 74_37 +1 known silent c.405 p.V135 1.000 superfamily_ARM-type_fold pfam_DUF1981_Sec7_assoc,superfamily_ARM-type_fold,superfamily_Sec7_dom,smart_Sec7_dom - no_errors KIAA1244 HGNC ENSG00000112379 tier1 - - 77 0 0.00 49 4 7.55 KIF21B 0 genome.wustl.edu 37 1 200967542 200967542 + Silent SNP G G A TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 1 200967542 200967542 G A SNP KIF21B ENST00000422435 human ensembl 74_37 -1 known silent c.2047 p.L683 1.000 NULL pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_P-loop_NTPase,superfamily_WD40_repeat_dom,superfamily_Prefoldin,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom - no_errors KIF21B HGNC ENSG00000116852 tier1 - - 69 0 0.00 57 5 8.06 KRT6A 0 genome.wustl.edu 37 12 52884517 52884517 + Missense_Mutation SNP C C G TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 12 52884517 52884517 C G SNP KRT6A ENST00000330722 human ensembl 74_37 -1 known missense c.913 p.E305Q 1.000 pfam_IF,superfamily_Prefoldin pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT6A HGNC ENSG00000205420 tier1 - - 200 0 0.00 159 12 7.02 LAMA5 0 genome.wustl.edu 37 20 60886990 60886990 + Silent SNP G G A TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 20 60886990 60886990 G A SNP LAMA5 ENST00000252999 human ensembl 74_37 -1 known silent c.9621 p.Y3207 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,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,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors LAMA5 HGNC ENSG00000130702 tier1 - - 139 0 0.00 128 42 24.71 LANCL1 0 genome.wustl.edu 37 2 211336800 211336800 + Missense_Mutation SNP G G C TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 2 211336800 211336800 G C SNP LANCL1 ENST00000233714 human ensembl 74_37 -1 known missense c.82 p.L28V 1.000 NULL pfam_LANC-like,superfamily_6-hairpin_glycosidase-like,prints_LanC-like_prot_euk,prints_LANC-like - no_errors LANCL1 HGNC ENSG00000115365 tier1 - - 80 0 0.00 29 13 30.95 LMBRD1 0 genome.wustl.edu 37 6 70506734 70506734 + Missense_Mutation SNP C C G TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 6 70506734 70506734 C G SNP LMBRD1 ENST00000370577 human ensembl 74_37 -1 known missense c.40 p.G14R 1.000 NULL pfam_LMBR1-like_membr_prot - no_errors LMBRD1 HGNC ENSG00000168216 tier1 - - 73 0 0.00 40 16 28.57 LOC100128714 0 genome.wustl.edu 37 15 26147563 26147563 + RNA SNP C C A TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 15 26147563 26147563 C A SNP LOC100128714 ENST00000383019 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-1084I9.1 Clone_based_vega_gene ENSG00000206187 tier1 - - 37 0 0.00 25 9 26.47 LOC101927750 0 genome.wustl.edu 37 2 71175455 71175455 + RNA SNP T T A TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 2 71175455 71175455 T A SNP LOC101927750 ENST00000422761 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AC007040.7 Clone_based_vega_gene ENSG00000239322 tier1 - - 27 0 0.00 23 6 20.69 LOC101928780 0 genome.wustl.edu 37 19 54626002 54626002 + RNA SNP G G A TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 19 54626002 54626002 G A SNP LOC101928780 ENST00000452097 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AC012314.8 Clone_based_vega_gene ENSG00000237017 tier1 - - 50 0 0.00 17 7 29.17 LOC146880 0 genome.wustl.edu 37 17 62754401 62754401 + RNA SNP C C T TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 17 62754401 62754401 C T SNP LOC146880 ENST00000400873 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors hsa-mir-6080 miRBase ENSG00000215769 tier1 - - 123 0 0.00 49 29 37.18 LRCH1 0 genome.wustl.edu 37 13 47224409 47224409 + Silent SNP G G T TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 13 47224409 47224409 G T SNP LRCH1 ENST00000389798 human ensembl 74_37 +1 known silent c.381 p.L127 0.670 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain - no_errors LRCH1 HGNC ENSG00000136141 tier1 - - 52 0 0.00 26 28 51.85 LUZP2 0 genome.wustl.edu 37 11 24518708 24518708 + RNA SNP G G C TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 11 24518708 24518708 G C SNP LUZP2 ENST00000405855 human ensembl 74_37 +1 known rna NULL NULL 0.074 - - - no_errors LUZP2 HGNC ENSG00000187398 tier1 - - 15 0 0.00 5 7 58.33 MAGEA4 0 genome.wustl.edu 37 X 151092505 151092505 + Silent SNP C C A TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 X 151092505 151092505 C A SNP MAGEA4 ENST00000276344 human ensembl 74_37 +1 known silent c.369 p.R123 0.003 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEA4 HGNC ENSG00000147381 tier1 - - 50 0 0.00 15 41 73.21 MAP1B 0 genome.wustl.edu 37 5 71495574 71495574 + Missense_Mutation SNP C C T TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 5 71495574 71495574 C T SNP MAP1B ENST00000296755 human ensembl 74_37 +1 known missense c.6392 p.P2131L 1.000 NULL pfam_MAP1B_neuraxin - no_errors MAP1B HGNC ENSG00000131711 tier1 - - 35 0 0.00 34 14 29.17 MAP3K15 0 genome.wustl.edu 37 X 19390939 19390939 + Silent SNP T T C TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 X 19390939 19390939 T C SNP MAP3K15 ENST00000338883 human ensembl 74_37 -1 known silent c.2940 p.P980 0.012 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP3K15 HGNC ENSG00000180815 tier1 - - 22 0 0.00 5 21 80.77 MARCH6 0 genome.wustl.edu 37 5 10410318 10410318 + Nonsense_Mutation SNP G G T TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 5 10410318 10410318 G T SNP MARCH6 ENST00000274140 human ensembl 74_37 +1 known nonsense c.1621 p.E541* 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH - no_errors MARCH6 HGNC ENSG00000145495 tier1 - - 100 0 0.00 46 31 40.26 MEIS2 0 genome.wustl.edu 37 15 37386766 37386766 + Missense_Mutation SNP T T C TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 15 37386766 37386766 T C SNP MEIS2 ENST00000561208 human ensembl 74_37 -1 known missense c.451 p.I151V 1.000 NULL pfam_Homeobox_dom,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors MEIS2 HGNC ENSG00000134138 tier1 - - 48 0 0.00 27 19 41.30 MEIS3 0 genome.wustl.edu 37 19 47920156 47920156 + Frame_Shift_Del DEL G G - TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 19 47920156 47920156 G - DEL MEIS3 ENST00000559524 human ensembl 74_37 -1 known frame_shift_del c.250 p.R84fs 1.000 NULL pfam_Homeobox_dom,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors MEIS3 HGNC ENSG00000105419 tier1 61 0 0.00 37 2 5.13 METTL21B 0 genome.wustl.edu 37 12 58174146 58174146 + Missense_Mutation SNP G G T TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 12 58174146 58174146 G T SNP METTL21B ENST00000300209 human ensembl 74_37 +1 known missense c.398 p.W133L 1.000 pfam_Nicotinamide_N-MeTfrase-like pfam_Nicotinamide_N-MeTfrase-like - no_errors METTL21B HGNC ENSG00000123427 tier1 - - 66 0 0.00 49 4 7.55 MGA 0 genome.wustl.edu 37 15 42003263 42003263 + Silent SNP C C T TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 15 42003263 42003263 C T SNP MGA ENST00000219905 human ensembl 74_37 +1 known silent c.2800 p.L934 0.000 NULL pfam_TF_T-box,pfam_bHLH_dom,superfamily_p53-like_TF_DNA-bd,superfamily_bHLH_dom,smart_TF_T-box,smart_bHLH_dom,pfscan_bHLH_dom,pfscan_TF_T-box,prints_TF_T-box - no_errors MGA HGNC ENSG00000174197 tier1 - - 46 0 0.00 33 13 28.26 MPO 0 genome.wustl.edu 37 17 56357257 56357257 + Silent SNP G G A TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 17 56357257 56357257 G A SNP MPO ENST00000340482 human ensembl 74_37 -1 known silent c.367 p.L123 0.957 NULL pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors MPO HGNC ENSG00000005381 tier1 - - 59 0 0.00 35 19 35.19 MROH9 0 genome.wustl.edu 37 1 170959002 170959002 + Nonsense_Mutation SNP A A T TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 1 170959002 170959002 A T SNP MROH9 ENST00000367759 human ensembl 74_37 +1 known nonsense c.886 p.K296* 0.993 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MROH9 HGNC ENSG00000117501 tier1 - - 123 0 0.00 73 20 21.51 MT-CO1 0 genome.wustl.edu 37 MT 6692 6692 + Frame_Shift_Del DEL A A - TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 MT 6692 6692 A - DEL MT-CO1 ENST00000361624 human ensembl 74_37 +1 known frame_shift_del c.789 p.E266fs NULL pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1 - no_errors MT-CO1 HGNC ENSG00000198804 tier1 14 0 0.00 15 4 21.05 MTBP 0 genome.wustl.edu 37 8 121463519 121463521 + In_Frame_Del DEL GAA GAA - TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 GAA GAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 8 121463519 121463521 GAA - DEL MTBP ENST00000305949 human ensembl 74_37 +1 known in_frame_del c.382_384 p.E130in_frame_del 1.000:1.000:1.000 NULL NULL - no_errors MTBP HGNC ENSG00000172167 tier1 44 0 0.00 45 8 15.09 NACAD 0 genome.wustl.edu 37 7 45122609 45122609 + Missense_Mutation SNP C C T TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 7 45122609 45122609 C T SNP NACAD ENST00000490531 human ensembl 74_37 -1 known missense c.3170 p.R1057Q 0.000 NULL pfam_Nas_poly-pep-assoc_cplx_dom,pfscan_Nas_poly-pep-assoc_cplx_dom - no_errors NACAD HGNC ENSG00000136274 tier1 - - 48 0 0.00 41 17 29.31 NCOA1 0 genome.wustl.edu 37 2 24888748 24888748 + Missense_Mutation SNP G G A TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 2 24888748 24888748 G A SNP NCOA1 ENST00000348332 human ensembl 74_37 +1 known missense c.220 p.V74I 1.000 superfamily_bHLH_dom,smart_bHLH_dom,pirsf_Nuclear_rcpt_coactivator,pfscan_bHLH_dom pfam_DUF1518,pfam_SRC-1,pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_PAS_fold,superfamily_PAS,superfamily_Nuc_rcpt_coact,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_bHLH_dom - no_errors NCOA1 HGNC ENSG00000084676 tier1 - - 33 0 0.00 28 8 22.22 NDNF 0 genome.wustl.edu 37 4 121957628 121957628 + Missense_Mutation SNP G G T TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 4 121957628 121957628 G T SNP NDNF ENST00000379692 human ensembl 74_37 -1 known missense c.1498 p.Q500K 1.000 pfam_DUF2369,superfamily_Fibronectin_type3,smart_Fibronectin_type3 pfam_DUF2369,superfamily_Fibronectin_type3,smart_Fibronectin_type3 - no_errors NDNF HGNC ENSG00000173376 tier1 - - 78 0 0.00 49 26 34.67 NIPBL 0 genome.wustl.edu 37 5 36972125 36972125 + Missense_Mutation SNP A A T TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 5 36972125 36972125 A T SNP NIPBL ENST00000282516 human ensembl 74_37 +1 known missense c.850 p.S284C 1.000 NULL superfamily_ARM-type_fold - no_errors NIPBL HGNC ENSG00000164190 tier1 - - 66 0 0.00 25 14 35.90 NOXO1 0 genome.wustl.edu 37 16 2030148 2030148 + Missense_Mutation SNP G G C TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 16 2030148 2030148 G C SNP NOXO1 ENST00000397280 human ensembl 74_37 -1 known missense c.451 p.L151V 0.000 superfamily_SH3_domain pfam_SH3_domain,pfam_Phox,superfamily_Phox,superfamily_SH3_domain,smart_SH3_domain,pfscan_Phox,pfscan_SH3_domain - no_errors NOXO1 HGNC ENSG00000196408 tier1 - - 19 0 0.00 13 6 31.58 NPR1 0 genome.wustl.edu 37 1 153660146 153660146 + Missense_Mutation SNP C C T TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 1 153660146 153660146 C T SNP NPR1 ENST00000368680 human ensembl 74_37 +1 known missense c.2129 p.A710V 0.985 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Peripla_BP_I,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,prints_Ntpep_rcpt,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase - no_errors NPR1 HGNC ENSG00000169418 tier1 - - 54 0 0.00 40 18 30.51 NPY6R 0 genome.wustl.edu 37 5 137144064 137144064 + RNA SNP T T C TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 5 137144064 137144064 T C SNP NPY6R ENST00000510937 human ensembl 74_37 +1 known rna NULL NULL 0.948 - - - no_errors NPY6R HGNC ENSG00000226306 tier1 - - 69 0 0.00 43 24 35.82 NUPL1 0 genome.wustl.edu 37 13 25923823 25923823 + RNA SNP C C T TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 13 25923823 25923823 C T SNP NUPL1 ENST00000477876 human ensembl 74_37 +1 known rna NULL NULL 0.105 - - - no_errors NUPL1 HGNC ENSG00000139496 tier1 - - 38 0 0.00 30 6 16.67 OCA2 0 genome.wustl.edu 37 15 28116298 28116298 + Splice_Site SNP A A C TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 15 28116298 28116298 A C SNP OCA2 ENST00000354638 human ensembl 74_37 -1 known splice_site c.2244+2 e20+2 1.000 - - - no_errors OCA2 HGNC ENSG00000104044 tier1 - - 38 0 0.00 19 11 36.67 OR2B6 0 genome.wustl.edu 37 6 27925834 27925834 + Missense_Mutation SNP G G C TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 6 27925834 27925834 G C SNP OR2B6 ENST00000244623 human ensembl 74_37 +1 known missense c.816 p.K272N 0.909 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2B6 HGNC ENSG00000124657 tier1 - - 57 0 0.00 43 16 27.12 OR4A15 0 genome.wustl.edu 37 11 55135831 55135831 + Missense_Mutation SNP C C G TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 11 55135831 55135831 C G SNP OR4A15 ENST00000314706 human ensembl 74_37 +1 known missense c.472 p.L158V 0.228 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4A15 HGNC ENSG00000181958 tier1 - - 114 0 0.00 110 19 14.73 OR4A47 0 genome.wustl.edu 37 11 48510440 48510440 + Missense_Mutation SNP C C G TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 11 48510440 48510440 C G SNP OR4A47 ENST00000446524 human ensembl 74_37 +1 known missense c.96 p.F32L 0.803 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4A47 HGNC ENSG00000237388 tier1 - - 92 0 0.00 63 7 10.00 OR4K14 0 genome.wustl.edu 37 14 20482578 20482578 + Missense_Mutation SNP A A C TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 14 20482578 20482578 A C SNP OR4K14 ENST00000305045 human ensembl 74_37 -1 known missense c.775 p.Y259D 0.997 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4K14 HGNC ENSG00000169484 tier1 - - 42 0 0.00 26 25 49.02 OR4N2 0 genome.wustl.edu 37 14 20295854 20295854 + Missense_Mutation SNP G G A TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 14 20295854 20295854 G A SNP OR4N2 ENST00000315947 human ensembl 74_37 +1 known missense c.247 p.V83M 0.251 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4N2 HGNC ENSG00000176294 tier1 - - 299 0 0.00 259 93 26.35 OR52E8 0 genome.wustl.edu 37 11 5878458 5878458 + Silent SNP G G A TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 11 5878458 5878458 G A SNP OR52E8 ENST00000537935 human ensembl 74_37 -1 known silent c.475 p.L159 0.000 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 OR52E8 HGNC ENSG00000183269 39 0 0.00 24 5 17.24 OR6X1 0 genome.wustl.edu 37 11 123624707 123624707 + Missense_Mutation SNP G G C TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 11 123624707 123624707 G C SNP OR6X1 ENST00000327930 human ensembl 74_37 -1 known missense c.520 p.H174D 0.984 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6X1 HGNC ENSG00000221931 tier1 - - 37 0 0.00 14 8 36.36 OR7E24 0 genome.wustl.edu 37 19 9361752 9361752 + Silent SNP C C T TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 19 9361752 9361752 C T SNP OR7E24 ENST00000456448 human ensembl 74_37 +1 known silent c.33 p.F11 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR7E24 HGNC ENSG00000237521 83 0 0.00 85 5 5.56 OR8I2 0 genome.wustl.edu 37 11 55860877 55860877 + Missense_Mutation SNP C C G TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 11 55860877 55860877 C G SNP OR8I2 ENST00000302124 human ensembl 74_37 +1 known missense c.94 p.L32V 0.958 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8I2 HGNC ENSG00000172154 tier1 - - 112 0 0.00 61 32 34.41 PADI1 0 genome.wustl.edu 37 1 17563814 17563814 + Missense_Mutation SNP G G C TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 1 17563814 17563814 G C SNP PADI1 ENST00000375471 human ensembl 74_37 +1 known missense c.1319 p.G440A 0.004 pfam_PAD_C,pirsf_Protein-arginine_deiminase_sub pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub - no_errors PADI1 HGNC ENSG00000142623 tier1 - - 49 0 0.00 23 11 32.35 PARM1 0 genome.wustl.edu 37 4 75959102 75959102 + Missense_Mutation SNP C C T TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 4 75959102 75959102 C T SNP PARM1 ENST00000307428 human ensembl 74_37 +1 known missense c.779 p.A260V 0.966 NULL NULL - no_errors PARM1 HGNC ENSG00000169116 tier1 - - 77 0 0.00 38 18 32.14 PDE4D 0 genome.wustl.edu 37 5 58271511 58271511 + Silent SNP C C T TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 5 58271511 58271511 C T SNP PDE4D ENST00000340635 human ensembl 74_37 -1 known silent c.1986 p.K662 1.000 pfam_PDEase_catalytic_dom pfam_PDEase_catalytic_dom,prints_PDEase - no_errors PDE4D HGNC ENSG00000113448 tier1 - - 90 0 0.00 63 4 5.97 PEX16 0 genome.wustl.edu 37 11 45936188 45936188 + Silent SNP G G T TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 11 45936188 45936188 G T SNP PEX16 ENST00000241041 human ensembl 74_37 -1 known silent c.508 p.R170 1.000 pfam_Pex16 pfam_Pex16 - no_errors PEX16 HGNC ENSG00000121680 tier1 - - 41 0 0.00 52 4 7.14 PHB2 0 genome.wustl.edu 37 12 7076914 7076914 + Missense_Mutation SNP G G T TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 12 7076914 7076914 G T SNP PHB2 ENST00000399433 human ensembl 74_37 -1 known missense c.636 p.F212L 1.000 pfam_Band_7,prints_Prohibitin pfam_Band_7,smart_Band_7,prints_Prohibitin - no_errors PHB2 HGNC ENSG00000215021 tier1 - - 24 0 0.00 21 4 16.00 PHIP 0 genome.wustl.edu 37 6 79655907 79655907 + Missense_Mutation SNP G G T TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 6 79655907 79655907 G T SNP PHIP ENST00000275034 human ensembl 74_37 -1 known missense c.4441 p.P1481T 0.988 NULL pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quinonprotein_ADH-like_supfam,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors PHIP HGNC ENSG00000146247 tier1 - - 63 0 0.00 66 4 5.71 PID1 0 genome.wustl.edu 37 2 229890405 229890405 + Silent SNP G G T TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 2 229890405 229890405 G T SNP PID1 ENST00000354069 human ensembl 74_37 -1 known silent c.696 p.I232 1.000 smart_PTB/PI_dom pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom - no_errors PID1 HGNC ENSG00000153823 tier1 - - 37 0 0.00 23 8 25.81 PIK3C3 0 genome.wustl.edu 37 18 39637872 39637872 + Silent SNP A A T TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 18 39637872 39637872 A T SNP PIK3C3 ENST00000262039 human ensembl 74_37 +1 known silent c.2289 p.G763 0.993 pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pirsf_PI3K_Vps34,pfscan_PI3/4_kinase_cat_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pirsf_PI3K_Vps34,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C3 HGNC ENSG00000078142 tier1 - - 57 0 0.00 27 40 59.70 PIP5KL1 0 genome.wustl.edu 37 9 130690079 130690079 + RNA SNP C C T TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 9 130690079 130690079 C T SNP PIP5KL1 ENST00000492296 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors PIP5KL1 HGNC ENSG00000167103 tier1 - - 9 0 0.00 6 12 66.67 PKHD1L1 0 genome.wustl.edu 37 8 110457161 110457161 + Missense_Mutation SNP C C A TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 8 110457161 110457161 C A SNP PKHD1L1 ENST00000378402 human ensembl 74_37 +1 known missense c.5063 p.S1688Y 0.009 pfam_IPT,superfamily_Ig_E-set,smart_IPT pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1 - no_errors PKHD1L1 HGNC ENSG00000205038 tier1 - - 37 0 0.00 51 10 16.39 PLEKHA7 0 genome.wustl.edu 37 11 16872792 16872792 + Silent SNP G G A TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 11 16872792 16872792 G A SNP PLEKHA7 ENST00000448080 human ensembl 74_37 -1 known silent c.642 p.Y214 0.971 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_WW_dom - no_errors PLEKHA7 HGNC ENSG00000166689 tier1 - - 53 0 0.00 28 11 28.21 PLEKHM1P 0 genome.wustl.edu 37 17 62796231 62796231 + RNA SNP T T C TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 17 62796231 62796231 T C SNP PLEKHM1P ENST00000578036 human ensembl 74_37 -1 known rna NULL NULL 0.152 - - - no_errors PLEKHM1P HGNC ENSG00000214176 tier1 - - 56 0 0.00 50 6 10.71 PLXND1 0 genome.wustl.edu 37 3 129325128 129325128 + Missense_Mutation SNP G G A TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 3 129325128 129325128 G A SNP PLXND1 ENST00000324093 human ensembl 74_37 -1 known missense c.355 p.R119C 0.964 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,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 PLXND1 HGNC ENSG00000004399 tier1 - - 18 0 0.00 9 4 30.77 PPFIBP2 0 genome.wustl.edu 37 11 7618827 7618827 + Missense_Mutation SNP G G A TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 11 7618827 7618827 G A SNP PPFIBP2 ENST00000299492 human ensembl 74_37 +1 known missense c.409 p.E137K 1.000 NULL pfam_SAM_2,pfam_SAM_type1,pfam_Integrase_Tn916-type_DNA-bd_N,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIBP2 HGNC ENSG00000166387 tier1 - - 55 0 0.00 28 14 33.33 PRDM8 0 genome.wustl.edu 37 4 81123458 81123458 + Missense_Mutation SNP A A T TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 4 81123458 81123458 A T SNP PRDM8 ENST00000339711 human ensembl 74_37 +1 known missense c.842 p.Q281L 0.001 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors PRDM8 HGNC ENSG00000152784 tier1 - - 12 0 0.00 15 5 25.00 PRDX4 0 genome.wustl.edu 37 X 23685653 23685653 + RNA SNP C C G TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 X 23685653 23685653 C G SNP PRDX4 ENST00000495599 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors PRDX4 HGNC ENSG00000123131 tier1 - - 8 0 0.00 3 7 70.00 PREPL 0 genome.wustl.edu 37 2 44559648 44559648 + Missense_Mutation SNP C C T TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 2 44559648 44559648 C T SNP PREPL ENST00000260648 human ensembl 74_37 -1 known missense c.1303 p.D435N 1.000 NULL pfam_Peptidase_S9,pfam_Pept_S9A_N,prints_Peptidase_S9A - no_errors PREPL HGNC ENSG00000138078 tier1 - - 85 0 0.00 49 26 34.67 PRX 0 genome.wustl.edu 37 19 40900180 40900182 + In_Frame_Del DEL TCC TCC - TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 TCC TCC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 19 40900180 40900182 TCC - DEL PRX ENST00000324001 human ensembl 74_37 -1 known in_frame_del c.4079_4077 p.E1361in_frame_del 0.908:0.904:0.008 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PRX HGNC ENSG00000105227 tier1 26 0 0.00 26 3 10.34 PSME4 0 genome.wustl.edu 37 2 54119985 54119985 + Missense_Mutation SNP G G A TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 2 54119985 54119985 G A SNP PSME4 ENST00000404125 human ensembl 74_37 -1 known missense c.4151 p.A1384V 1.000 superfamily_ARM-type_fold pfam_DUF3437,superfamily_ARM-type_fold - no_errors PSME4 HGNC ENSG00000068878 78 0 0.00 53 4 7.02 PTPN21 0 genome.wustl.edu 37 14 88951473 88951473 + Missense_Mutation SNP G G T TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 14 88951473 88951473 G T SNP PTPN21 ENST00000328736 human ensembl 74_37 -1 known missense c.1025 p.P342Q 1.000 pirsf_Tyr_Pase_non-rcpt_typ-14/21 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,superfamily_FERM_central,smart_Band_41_domain,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam - no_errors PTPN21 HGNC ENSG00000070778 tier1 - - 70 0 0.00 77 16 17.20 PTPRU 0 genome.wustl.edu 37 1 29606106 29606106 + Missense_Mutation SNP C C T TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 1 29606106 29606106 C T SNP PTPRU ENST00000345512 human ensembl 74_37 +1 known missense c.1702 p.R568W 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRU HGNC ENSG00000060656 68 0 0.00 73 4 5.19 RAB33A 0 genome.wustl.edu 37 X 129318277 129318277 + Missense_Mutation SNP G G A TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 X 129318277 129318277 G A SNP RAB33A ENST00000257017 human ensembl 74_37 +1 known missense c.277 p.A93T 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB33A HGNC ENSG00000134594 tier1 - - 33 0 0.00 42 4 8.70 RAB3GAP2 0 genome.wustl.edu 37 1 220326771 220326771 + RNA SNP G G T TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 1 220326771 220326771 G T SNP RAB3GAP2 ENST00000474966 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RAB3GAP2 HGNC ENSG00000118873 tier1 - - 63 0 0.00 61 4 6.15 RET 0 genome.wustl.edu 37 10 43596063 43596063 + Missense_Mutation SNP G G A TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 10 43596063 43596063 G A SNP RET ENST00000355710 human ensembl 74_37 +1 known missense c.230 p.R77H 0.073 pirsf_Tyr_kinase_Ret_rcpt pirsf_Tyr_kinase_Ret_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Cadherin,superfamily_Kinase-like_dom,superfamily_Cadherin-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Cadherin - no_errors RET HGNC ENSG00000165731 tier1 - - 74 0 0.00 65 4 5.80 RIMBP2 0 genome.wustl.edu 37 12 130921822 130921822 + Missense_Mutation SNP G G C TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 12 130921822 130921822 G C SNP RIMBP2 ENST00000261655 human ensembl 74_37 -1 known missense c.1620 p.I540M 0.983 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain,prints_SH3_domain - no_errors RIMBP2 HGNC ENSG00000060709 19 0 0.00 6 3 33.33 ROBO2 0 genome.wustl.edu 37 3 77671452 77671452 + Missense_Mutation SNP C C G TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 3 77671452 77671452 C G SNP ROBO2 ENST00000461745 human ensembl 74_37 +1 known missense c.3629 p.S1210C 1.000 NULL 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 - - 79 0 0.00 35 12 25.53 RPL39L 0 genome.wustl.edu 37 3 186838997 186838997 + Missense_Mutation SNP G G T TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 3 186838997 186838997 G T SNP RPL39L ENST00000296277 human ensembl 74_37 -1 known missense c.92 p.P31H 1.000 pfam_Ribosomal_L39,superfamily_Ribosomal_L39e_dom pfam_Ribosomal_L39,superfamily_Ribosomal_L39e_dom - no_errors RPL39L HGNC ENSG00000163923 tier1 - - 44 0 0.00 62 4 6.06 RPS4XP16 0 genome.wustl.edu 37 13 52035402 52035402 + RNA SNP C C A TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 13 52035402 52035402 C A SNP RPS4XP16 ENST00000595905 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RPS4XP16 HGNC ENSG00000224892 tier1 - - 63 0 0.00 48 21 30.43 SDHAF2 0 genome.wustl.edu 37 11 61213450 61213450 + Nonsense_Mutation SNP C C G TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 11 61213450 61213450 C G SNP SDHAF2 ENST00000542074 human ensembl 74_37 +1 putative nonsense c.74 p.S25* 1.000 NULL NULL - no_errors SDHAF2 HGNC ENSG00000167985 tier1 - - 61 0 0.00 47 20 29.85 SELL 0 genome.wustl.edu 37 1 169670639 169670640 + RNA INS - - T TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 1 169670639 169670640 - T INS SELL ENST00000463108 human ensembl 74_37 -1 known rna NULL NULL 0.134:0.017 - - - no_errors SELL HGNC ENSG00000188404 tier1 65 0 0.00 40 4 9.09 SERPINA4 0 genome.wustl.edu 37 14 95029834 95029834 + Missense_Mutation SNP C C G TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 14 95029834 95029834 C G SNP SERPINA4 ENST00000298841 human ensembl 74_37 +1 known missense c.15 p.D5E 0.000 superfamily_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINA4 HGNC ENSG00000100665 tier1 - - 34 0 0.00 51 9 15.00 SERPINA4 0 genome.wustl.edu 37 14 95029843 95029843 + Silent SNP C C G TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 14 95029843 95029843 C G SNP SERPINA4 ENST00000298841 human ensembl 74_37 +1 known silent c.24 p.L8 0.198 superfamily_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINA4 HGNC ENSG00000100665 tier1 - - 32 0 0.00 57 11 16.18 SERTAD4-AS1 0 genome.wustl.edu 37 1 210407330 210407330 + RNA DEL T T - TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 1 210407330 210407330 T - DEL SERTAD4-AS1 ENST00000437764 human ensembl 74_37 -1 known rna NULL NULL 0.837 - - - no_errors SERTAD4-AS1 HGNC ENSG00000203706 tier1 9 0 0.00 10 4 28.57 SGK3 0 genome.wustl.edu 37 8 67753250 67753250 + RNA SNP A A G TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 8 67753250 67753250 A G SNP SGK3 ENST00000523260 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors SGK3 HGNC ENSG00000104205 tier1 - - 62 0 0.00 35 25 41.67 SH3PXD2A 0 genome.wustl.edu 37 10 105386894 105386894 + Missense_Mutation SNP T T A TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 10 105386894 105386894 T A SNP SH3PXD2A ENST00000369774 human ensembl 74_37 -1 known missense c.670 p.N224Y 1.000 superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_SH3_domain,pfam_SH3_2,pfam_Phox,superfamily_Phox,superfamily_SH3_domain,smart_Phox,smart_SH3_domain,pfscan_Phox,pfscan_SH3_domain - no_errors SH3PXD2A HGNC ENSG00000107957 tier1 - - 59 0 0.00 38 16 29.63 SLC16A4 0 genome.wustl.edu 37 1 110925488 110925488 + Missense_Mutation SNP C C T TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 1 110925488 110925488 C T SNP SLC16A4 ENST00000369779 human ensembl 74_37 -1 known missense c.188 p.G63E 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A4 HGNC ENSG00000168679 tier1 - - 86 0 0.00 74 6 7.50 SLC25A44 0 genome.wustl.edu 37 1 156182430 156182430 + RNA DEL T T - TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 1 156182430 156182430 T - DEL SLC25A44 ENST00000469537 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SLC25A44 HGNC ENSG00000160785 tier1 74 0 0.00 43 14 24.56 SLC25A44 0 genome.wustl.edu 37 1 156182440 156182441 + RNA INS - - T TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 1 156182440 156182441 - T INS SLC25A44 ENST00000469537 human ensembl 74_37 +1 known rna NULL NULL 0.001:0.000 - - - no_errors SLC25A44 HGNC ENSG00000160785 tier1 80 0 0.00 40 16 28.57 SLC6A17 0 genome.wustl.edu 37 1 110737278 110737278 + Silent SNP C C A TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 1 110737278 110737278 C A SNP SLC6A17 ENST00000331565 human ensembl 74_37 +1 known silent c.1377 p.S459 0.006 pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan - no_errors SLC6A17 HGNC ENSG00000197106 tier1 - - 17 0 0.00 19 8 23.53 SLITRK5 0 genome.wustl.edu 37 13 88328551 88328551 + Missense_Mutation SNP C C T TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 13 88328551 88328551 C T SNP SLITRK5 ENST00000325089 human ensembl 74_37 +1 known missense c.908 p.T303M 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK5 HGNC ENSG00000165300 tier1 rs113077003 - 75 0 0.00 32 13 28.89 SPATA31D1 0 genome.wustl.edu 37 9 84605932 84605932 + Missense_Mutation SNP G G C TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 9 84605932 84605932 G C SNP SPATA31D1 ENST00000344803 human ensembl 74_37 +1 known missense c.547 p.D183H 0.001 NULL NULL - no_errors SPATA31D1 HGNC ENSG00000214929 tier1 - - 111 0 0.00 64 35 35.35 SPATA33 0 genome.wustl.edu 37 16 89735825 89735825 + Missense_Mutation SNP G G A TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 16 89735825 89735825 G A SNP SPATA33 ENST00000579310 human ensembl 74_37 +1 known missense c.343 p.E115K 0.110 NULL NULL - no_errors SPATA33 HGNC ENSG00000167523 tier1 - - 84 0 0.00 45 12 21.05 SPOP 0 genome.wustl.edu 37 17 47688654 47688654 + Missense_Mutation SNP C C T TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 17 47688654 47688654 C T SNP SPOP ENST00000347630 human ensembl 74_37 -1 known missense c.646 p.A216T 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,pfam_MATH,superfamily_TRAF-like,superfamily_BTB/POZ_fold,smart_MATH,smart_BTB/POZ-like,pfscan_BTB/POZ-like,pfscan_MATH - no_errors SPOP HGNC ENSG00000121067 tier1 - - 76 0 0.00 56 28 33.33 SPTAN1 0 genome.wustl.edu 37 9 131388230 131388230 + Silent SNP T T G TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 9 131388230 131388230 T G SNP SPTAN1 ENST00000358161 human ensembl 74_37 +1 known silent c.6252 p.L2084 0.997 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_EF_hand_dom,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain - no_errors SPTAN1 HGNC ENSG00000197694 tier1 - - 59 0 0.00 26 31 54.39 SPTBN2 0 genome.wustl.edu 37 11 66455366 66455367 + Frame_Shift_Del DEL AA AA - TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 11 66455366 66455367 AA - DEL SPTBN2 ENST00000309996 human ensembl 74_37 -1 known frame_shift_del c.6474_6473 p.L2158fs 0.314:0.930 pirsf_Spectrin_bsu,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 SPTBN2 HGNC ENSG00000173898 tier1 49 0 0.00 20 9 31.03 SPTBN5 0 genome.wustl.edu 37 15 42155939 42155939 + Missense_Mutation SNP C C T TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 15 42155939 42155939 C T SNP SPTBN5 ENST00000320955 human ensembl 74_37 -1 known missense c.7112 p.R2371Q 0.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN5 HGNC ENSG00000137877 tier1 - - 33 0 0.00 34 12 26.09 STX6 0 genome.wustl.edu 37 1 180945094 180945094 + RNA DEL A A - TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 1 180945094 180945094 A - DEL STX6 ENST00000469135 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors STX6 HGNC ENSG00000135823 tier1 70 0 0.00 41 7 14.58 SVEP1 0 genome.wustl.edu 37 9 113238591 113238591 + Missense_Mutation SNP G G T TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 9 113238591 113238591 G T SNP SVEP1 ENST00000401783 human ensembl 74_37 -1 known missense c.2492 p.P831Q 1.000 NULL pfam_Sushi_SCR_CCP,pfam_EG-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Growth_fac_rcpt_N_dom,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin - no_errors SVEP1 HGNC ENSG00000165124 tier1 - - 73 0 0.00 54 4 6.90 SYNE1 0 genome.wustl.edu 37 6 152652910 152652910 + Missense_Mutation SNP C C T TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 6 152652910 152652910 C T SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.12910 p.E4304K 0.982 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 tier1 - - 83 0 0.00 58 15 20.27 SYNPO2L 0 genome.wustl.edu 37 10 75408586 75408586 + Missense_Mutation SNP G G T TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 10 75408586 75408586 G T SNP SYNPO2L ENST00000394810 human ensembl 74_37 -1 known missense c.824 p.T275N 1.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SYNPO2L HGNC ENSG00000166317 30 0 0.00 31 4 11.43 SYT10 0 genome.wustl.edu 37 12 33579301 33579301 + Missense_Mutation SNP G G C TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 12 33579301 33579301 G C SNP SYT10 ENST00000228567 human ensembl 74_37 -1 known missense c.281 p.T94S 0.001 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin,prints_C2_dom - no_errors SYT10 HGNC ENSG00000110975 tier1 - - 80 0 0.00 57 21 26.92 TAF7L 0 genome.wustl.edu 37 X 100531514 100531514 + Missense_Mutation SNP A A G TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 X 100531514 100531514 A G SNP TAF7L ENST00000372907 human ensembl 74_37 -1 known missense c.952 p.Y318H 0.006 NULL pfam_TAFII55_prot_cons_reg - no_errors TAF7L HGNC ENSG00000102387 tier1 - - 14 0 0.00 10 10 50.00 TAS2R16 0 genome.wustl.edu 37 7 122634852 122634852 + Silent SNP G G A TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 7 122634852 122634852 G A SNP TAS2R16 ENST00000249284 human ensembl 74_37 -1 known silent c.837 p.S279 0.007 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R16 HGNC ENSG00000128519 tier1 - - 55 0 0.00 35 17 32.69 TEKT2 0 genome.wustl.edu 37 1 36552424 36552424 + Missense_Mutation SNP T T C TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 1 36552424 36552424 T C SNP TEKT2 ENST00000207457 human ensembl 74_37 +1 known missense c.608 p.V203A 0.986 pfam_Tektin pfam_Tektin,superfamily_Prefoldin,prints_Tektin - no_errors TEKT2 HGNC ENSG00000092850 tier1 - - 40 0 0.00 40 32 44.44 TESC 0 genome.wustl.edu 37 12 117486955 117486955 + Missense_Mutation SNP C C T TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 12 117486955 117486955 C T SNP TESC ENST00000392545 human ensembl 74_37 -1 known missense c.377 p.R126H 0.994 NULL smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors TESC HGNC ENSG00000088992 tier1 - - 74 0 0.00 45 14 23.73 TFG 0 genome.wustl.edu 37 3 100432640 100432640 + Silent SNP G G T TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 3 100432640 100432640 G T SNP TFG ENST00000240851 human ensembl 74_37 +1 known silent c.111 p.V37 1.000 pfam_OPR_PB1,smart_OPR_PB1 pfam_OPR_PB1,smart_OPR_PB1 - no_errors TFG HGNC ENSG00000114354 tier1 - - 80 0 0.00 56 4 6.67 THBS2 0 genome.wustl.edu 37 6 169648854 169648854 + Silent SNP C C T TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 6 169648854 169648854 C T SNP THBS2 ENST00000366787 human ensembl 74_37 -1 known silent c.267 p.Q89 0.972 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_Thrombospondin_C,pfam_Thrombospondin_1_rpt,pfam_VWF_C,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Thrombospondin_1_rpt,smart_Laminin_G,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C - no_errors THBS2 HGNC ENSG00000186340 41 0 0.00 34 2 5.56 TJP1 0 genome.wustl.edu 37 15 30000830 30000830 + Missense_Mutation SNP T T C TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 15 30000830 30000830 T C SNP TJP1 ENST00000346128 human ensembl 74_37 -1 known missense c.4783 p.I1595V 0.040 NULL pfam_PDZ,pfam_ZU5,pfam_GK/Ca_channel_bsu,pfam_SH3_2,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_PDZ,smart_GK/Ca_channel_bsu,smart_ZU5,pfscan_PDZ,pfscan_SH3_domain,pfscan_ZU5,pfscan_Guanylate_kin-like,prints_ZonOcculS1,prints_ZonOcculdens - no_errors TJP1 HGNC ENSG00000104067 tier1 - - 87 0 0.00 45 18 28.57 TMEM178A 0 genome.wustl.edu 37 2 39893219 39893219 + Frame_Shift_Del DEL C C - TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 2 39893219 39893219 C 0 DEL TMEM178A ENST00000281961 human ensembl 74_37 +1 known frame_shift_del c.105 p.R37fs 1.000 NULL NULL - no_errors TMEM178A HGNC ENSG00000152154 12 0 0.00 4 2 33.33 TMPRSS11B 0 genome.wustl.edu 37 4 69096947 69096947 + Silent SNP T T C TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 4 69096947 69096947 T C SNP TMPRSS11B ENST00000332644 human ensembl 74_37 -1 known silent c.660 p.L220 0.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pirsf_Pept_S1A_HAT/DESC1,pfscan_Peptidase_S1,prints_Peptidase_S1A pfam_Peptidase_S1,pfam_SEA_dom,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pirsf_Pept_S1A_HAT/DESC1,pfscan_SEA_dom,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors TMPRSS11B HGNC ENSG00000185873 tier1 - - 44 0 0.00 41 16 28.07 TP53 0 genome.wustl.edu 37 17 7572939 7572939 + Frame_Shift_Del DEL A A - TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 17 7572939 7572939 A - DEL TP53 ENST00000269305 human ensembl 74_37 -1 known frame_shift_del c.1170 p.D391fs 0.078 NULL 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 70 0 0.00 54 25 31.65 TP53 0 genome.wustl.edu 37 17 7572940 7572940 + Missense_Mutation SNP G G T TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 17 7572940 7572940 G T SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.1169 p.P390H 0.066 NULL 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 - - 71 0 0.00 54 25 31.65 TP53 0 genome.wustl.edu 37 17 7577538 7577538 + Missense_Mutation SNP C C T TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 17 7577538 7577538 C T SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.743 p.R248Q 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 rs11540652 - 64 0 0.00 49 15 23.08 TRIM51HP 0 genome.wustl.edu 37 11 55062977 55062977 + RNA SNP G G T TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 11 55062977 55062977 G T SNP TRIM51HP ENST00000526016 human ensembl 74_37 -1 putative rna NULL NULL 0.088 - - - no_errors TRIM51HP HGNC ENSG00000166007 tier1 - - 304 0 0.00 254 79 23.72 TRIM62 0 genome.wustl.edu 37 1 33612835 33612835 + Silent SNP C C T TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 1 33612835 33612835 C T SNP TRIM62 ENST00000291416 human ensembl 74_37 -1 known silent c.1371 p.Q457 1.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM62 HGNC ENSG00000116525 tier1 - - 27 0 0.00 15 12 44.44 TSNAX 0 genome.wustl.edu 37 1 231665061 231665061 + Missense_Mutation SNP G G A TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 1 231665061 231665061 G A SNP TSNAX ENST00000366639 human ensembl 74_37 +1 known missense c.77 p.G26E 1.000 NULL pfam_Translin,superfamily_Translin - no_errors TSNAX HGNC ENSG00000116918 49 0 0.00 34 2 5.56 TTC40 0 genome.wustl.edu 37 10 134647604 134647604 + Missense_Mutation SNP G G A TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 10 134647604 134647604 G A SNP TTC40 ENST00000263170 human ensembl 74_37 -1 known missense c.1373 p.A458V 0.000 NULL NULL - no_errors TTC40 HGNC ENSG00000171811 36 0 0.00 49 4 7.55 TTN 0 genome.wustl.edu 37 2 179580465 179580465 + Missense_Mutation SNP C C G TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 2 179580465 179580465 C G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.21944 p.R7315T 1.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_V-set_subgr,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 32 0 0.00 15 12 44.44 TXN2 0 genome.wustl.edu 37 22 36863944 36863944 + Silent SNP C C T TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 22 36863944 36863944 C T SNP TXN2 ENST00000216185 human ensembl 74_37 -1 known silent c.408 p.V136 1.000 pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,tigrfam_Thioredoxin pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,tigrfam_Thioredoxin - no_errors TXN2 HGNC ENSG00000100348 68 0 0.00 34 2 5.56 URB1 0 genome.wustl.edu 37 21 33765205 33765205 + Missense_Mutation SNP C C G TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 21 33765205 33765205 C G SNP URB1 ENST00000382751 human ensembl 74_37 -1 known missense c.15 p.K5N 0.986 NULL pfam_Npa1_N,superfamily_ARM-type_fold - no_errors URB1 HGNC ENSG00000142207 tier1 - - 20 0 0.00 11 7 38.89 XIRP2 0 genome.wustl.edu 37 2 168104729 168104729 + Missense_Mutation SNP T T A TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 2 168104729 168104729 T A SNP XIRP2 ENST00000295237 human ensembl 74_37 +1 known missense c.6827 p.F2276Y 0.065 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP2 HGNC ENSG00000163092 tier1 - - 41 0 0.00 20 9 31.03 YES1 0 genome.wustl.edu 37 18 748017 748017 + Missense_Mutation SNP C C G TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 18 748017 748017 C G SNP YES1 ENST00000314574 human ensembl 74_37 -1 known missense c.373 p.E125Q 1.000 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain - no_errors YES1 HGNC ENSG00000176105 tier1 - - 37 0 0.00 34 11 24.44 ZC3H3 0 genome.wustl.edu 37 8 144550706 144550706 + Missense_Mutation SNP C C T TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 8 144550706 144550706 C T SNP ZC3H3 ENST00000262577 human ensembl 74_37 -1 known missense c.1951 p.A651T 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H3 HGNC ENSG00000014164 47 0 0.00 74 4 5.13 ZDHHC11 0 genome.wustl.edu 37 5 840629 840629 + Silent SNP G G A TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 5 840629 840629 G A SNP ZDHHC11 ENST00000283441 human ensembl 74_37 -1 known silent c.765 p.L255 0.002 NULL pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC11 HGNC ENSG00000188818 tier1 - - 91 0 0.00 61 15 19.74 ZFYVE26 0 genome.wustl.edu 37 14 68256264 68256264 + Missense_Mutation SNP G G T TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 14 68256264 68256264 G T SNP ZFYVE26 ENST00000347230 human ensembl 74_37 -1 known missense c.2807 p.S936Y 1.000 NULL pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors ZFYVE26 HGNC ENSG00000072121 33 0 0.00 38 2 5.00 ZNF23 0 genome.wustl.edu 37 16 71482777 71482777 + Missense_Mutation SNP C C G TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 16 71482777 71482777 C G SNP ZNF23 ENST00000357254 human ensembl 74_37 -1 known missense c.1151 p.R384T 0.921 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF23 HGNC ENSG00000167377 tier1 - - 102 0 0.00 66 24 26.67 ZNF343 0 genome.wustl.edu 37 20 2464529 2464529 + Nonsense_Mutation SNP G G A TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 20 2464529 2464529 G A SNP ZNF343 ENST00000278772 human ensembl 74_37 -1 known nonsense c.1078 p.R360* 0.166 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 ZNF343 HGNC ENSG00000088876 tier1 - - 91 0 0.00 79 16 16.84 ZNF525 0 genome.wustl.edu 37 19 53884598 53884598 + Nonsense_Mutation SNP C C T TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 19 53884598 53884598 C T SNP ZNF525 ENST00000474037 human ensembl 74_37 +1 putative nonsense c.766 p.R256* 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 ZNF525 HGNC ENSG00000203326 108 0 0.00 78 5 6.02 ZNF578 0 genome.wustl.edu 37 19 52960393 52960393 + RNA SNP C C T TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 19 52960393 52960393 C T SNP ZNF578 ENST00000596382 human ensembl 74_37 +1 known rna NULL NULL 0.051 - - - no_errors ZNF578 HGNC ENSG00000258405 tier1 - - 10 0 0.00 9 4 30.77 ZNF578 0 genome.wustl.edu 37 19 53014575 53014575 + Missense_Mutation SNP C C T TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 19 53014575 53014575 C T SNP ZNF578 ENST00000421239 human ensembl 74_37 +1 known missense c.941 p.P314L 0.980 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 ZNF578 HGNC ENSG00000258405 tier1 - - 114 0 0.00 78 34 30.36 ZNF607 0 genome.wustl.edu 37 19 38189230 38189230 + Missense_Mutation SNP G G A TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 19 38189230 38189230 G A SNP ZNF607 ENST00000355202 human ensembl 74_37 -1 known missense c.1802 p.A601V 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF607 HGNC ENSG00000198182 tier1 - - 54 0 0.00 57 27 32.14 ZNF730 0 genome.wustl.edu 37 19 23328592 23328592 + Missense_Mutation SNP T T A TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 19 23328592 23328592 T A SNP ZNF730 ENST00000597761 human ensembl 74_37 +1 known missense c.746 p.I249N 0.996 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 ZNF730 HGNC ENSG00000183850 tier1 - - 51 0 0.00 42 13 23.64 ZNF821 0 genome.wustl.edu 37 16 71894238 71894238 + Missense_Mutation SNP G G A TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 16 71894238 71894238 G A SNP ZNF821 ENST00000425432 human ensembl 74_37 -1 known missense c.922 p.R308C 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF821 HGNC ENSG00000102984 69 0 0.00 73 4 5.19 ZNFX1 0 genome.wustl.edu 37 20 47864704 47864704 + Silent SNP G G A TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 20 47864704 47864704 G A SNP ZNFX1 ENST00000371752 human ensembl 74_37 -1 known silent c.4857 p.C1619 1.000 NULL superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_Znf_NFX1 - no_errors ZNFX1 HGNC ENSG00000124201 tier1 - - 30 0 0.00 42 4 8.70 ZNRF4 0 genome.wustl.edu 37 19 5456256 5456256 + Silent SNP C C T TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq aa1ded71-e3fe-4ad9-b9de-aafa3da72d71 fcd83c0f-4889-4682-8cfc-eac824708060 19 5456256 5456256 C T SNP ZNRF4 ENST00000222033 human ensembl 74_37 +1 known silent c.754 p.L252 0.042 NULL pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors ZNRF4 HGNC ENSG00000105428 tier1 - - 59 0 0.00 31 19 38.00