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 dbSNP GMAF n_ref_count n_alt_count normal_vaf t_ref_count t_alt_count tumor_vaf n_ref_count_val n_alt_count_val normal_vaf_val t_ref_count_val t_alt_count_val tumor_vaf_val ACTC1 0 genome.wustl.edu 37 15 35083329 35083329 + Missense_Mutation SNP T T A TCGA-X6-A8C6-01A-11D-A36J-09 TCGA-X6-A8C6-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d08dfae-c1ce-467f-b80f-2ed6f269c01b b9a5db61-ec3f-4c18-8702-f4f3f32999e8 15 35083329 35083329 T A SNP ACTC1 ENST00000290378 human ensembl 74_37 -1 known missense c.976 p.T326S 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTC1 HGNC ENSG00000159251 tier1 - - 140 1 0.70 68 7 9.33 IL12RB2 0 genome.wustl.edu 37 1 67793870 67793882 + Splice_Site DEL GTTTTGTTTACAG GTTTTGTTTACAG - TCGA-X6-A8C6-01A-11D-A36J-09 TCGA-X6-A8C6-10A-01D-A36M-09 GTTTTGTTTACAG GTTTTGTTTACAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d08dfae-c1ce-467f-b80f-2ed6f269c01b b9a5db61-ec3f-4c18-8702-f4f3f32999e8 1 67793870 67793882 GTTTTGTTTACAG - DEL IL12RB2 ENST00000262345 human ensembl 74_37 +1 known splice_site_del c.480-13_480-1 e4-1 0.000:0.011:0.007:0.001:0.000:0.000:0.008:0.023:0.015:0.009:0.017:0.973:0.993 - - - no_errors IL12RB2 HGNC ENSG00000081985 tier1 ENSG00000228980 0 genome.wustl.edu 37 3 109128927 109128927 + R SNP G G A TCGA-X6-A8C6-01A-11D-A36J-09 TCGA-X6-A8C6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d08dfae-c1ce-467f-b80f-2ed6f269c01b b9a5db61-ec3f-4c18-8702-f4f3f32999e8 3 109128927 109128927 G A SNP ENSG00000228980 ENST00000497996 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-702L6.4 Clone_based_vega_gene ENSG00000228980 tier1 - - 110 0 0.00 57 5 8.06 UNC13A 0 genome.wustl.edu 37 19 17743633 17743633 + Missense_Mutation SNP G G A TCGA-X6-A8C6-01A-11D-A36J-09 TCGA-X6-A8C6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d08dfae-c1ce-467f-b80f-2ed6f269c01b b9a5db61-ec3f-4c18-8702-f4f3f32999e8 19 17743633 17743633 G A SNP UNC13A ENST00000428389 human ensembl 74_37 -1 known missense c.3650 p.T1217M 0.985 NULL pfam_Munc13_subgr_dom-2,pfam_C2_dom,pfam_Ca-dep_secretion_activator,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13A HGNC ENSG00000130477 tier1 - - 58 0 0.00 36 5 12.20 MIR3648 0 genome.wustl.edu 37 21 9825951 9825951 + R SNP G G A TCGA-X6-A8C6-01A-11D-A36J-09 TCGA-X6-A8C6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d08dfae-c1ce-467f-b80f-2ed6f269c01b b9a5db61-ec3f-4c18-8702-f4f3f32999e8 21 9825951 9825951 G A SNP MIR3648 ENST00000581792 human ensembl 74_37 +1 known rna NULL NULL 0.032 - - - no_errors MIR3648 HGNC ENSG00000264462 tier1 - - 30 0 0.00 8 6 42.86 PITPNM1 0 genome.wustl.edu 37 11 67261233 67261233 + Silent SNP G G A TCGA-X6-A8C6-01A-11D-A36J-09 TCGA-X6-A8C6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d08dfae-c1ce-467f-b80f-2ed6f269c01b b9a5db61-ec3f-4c18-8702-f4f3f32999e8 11 67261233 67261233 G A SNP PITPNM1 ENST00000356404 human ensembl 74_37 -1 known silent c.3084 p.D1028 0.999 pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2 pfam_PI_transfer,pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD,prints_PI_transfer - no_errors PITPNM1 HGNC ENSG00000110697 tier1 - - 36 0 0.00 16 7 30.43 VPS13D 0 genome.wustl.edu 37 1 12382758 12382758 + Nonsense_Mutation SNP G G T TCGA-X6-A8C6-01A-11D-A36J-09 TCGA-X6-A8C6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d08dfae-c1ce-467f-b80f-2ed6f269c01b b9a5db61-ec3f-4c18-8702-f4f3f32999e8 1 12382758 12382758 G T SNP VPS13D ENST00000358136 human ensembl 74_37 +1 known nonsense c.7870 p.E2624* 0.994 superfamily_UBA-like pfam_VPSAP_dom,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors VPS13D HGNC ENSG00000048707 tier1 - - 92 0 0.00 40 4 9.09 RYR2 0 genome.wustl.edu 37 1 237817712 237817712 + Missense_Mutation SNP A A G TCGA-X6-A8C6-01A-11D-A36J-09 TCGA-X6-A8C6-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d08dfae-c1ce-467f-b80f-2ed6f269c01b b9a5db61-ec3f-4c18-8702-f4f3f32999e8 1 237817712 237817712 A G SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known missense c.7957 p.K2653E 1.000 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 tier1 - - 127 0 0.00 36 12 25.00 FUT5 0 genome.wustl.edu 37 19 5867290 5867290 + Missense_Mutation SNP G G T TCGA-X6-A8C6-01A-11D-A36J-09 TCGA-X6-A8C6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d08dfae-c1ce-467f-b80f-2ed6f269c01b b9a5db61-ec3f-4c18-8702-f4f3f32999e8 19 5867290 5867290 G T SNP FUT5 ENST00000252675 human ensembl 74_37 -1 known missense c.447 p.S149R 0.110 pfam_Glyco_trans_10 pfam_Glyco_trans_10 - no_errors FUT5 HGNC ENSG00000130383 tier1 - - 76 0 0.00 36 4 10.00 TBC1D1 0 genome.wustl.edu 37 4 38119814 38119814 + Splice_Site SNP G G A TCGA-X6-A8C6-01A-11D-A36J-09 TCGA-X6-A8C6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d08dfae-c1ce-467f-b80f-2ed6f269c01b b9a5db61-ec3f-4c18-8702-f4f3f32999e8 4 38119814 38119814 G A SNP TBC1D1 ENST00000261439 human ensembl 74_37 +1 known splice_site c.2962+1 e16+1 1.000 - - - no_errors TBC1D1 HGNC ENSG00000065882 tier1 - - 88 0 0.00 43 6 12.24 ERVFRD-1 0 genome.wustl.edu 37 6 11105281 11105281 + Frame_Shift_Del DEL G G - TCGA-X6-A8C6-01A-11D-A36J-09 TCGA-X6-A8C6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d08dfae-c1ce-467f-b80f-2ed6f269c01b b9a5db61-ec3f-4c18-8702-f4f3f32999e8 6 11105281 11105281 G - DEL ERVFRD-1 ENST00000472091 human ensembl 74_37 -1 known frame_shift_del c.263 p.P88fs 0.027 NULL pfam_TLV/ENV_coat_polyprotein - no_errors ERVFRD-1 HGNC ENSG00000244476 tier1 117 0 0.00 76 16 17.39 FBN1 0 genome.wustl.edu 37 15 48704928 48704928 + Silent SNP A A G TCGA-X6-A8C6-01A-11D-A36J-09 TCGA-X6-A8C6-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d08dfae-c1ce-467f-b80f-2ed6f269c01b b9a5db61-ec3f-4c18-8702-f4f3f32999e8 15 48704928 48704928 A G SNP FBN1 ENST00000316623 human ensembl 74_37 -1 known silent c.8064 p.S2688 0.997 superfamily_Growth_fac_rcpt_N_dom,pirsf_FBN pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN1 HGNC ENSG00000166147 tier1 - - 44 0 0.00 28 5 15.15 TMEM88 0 genome.wustl.edu 37 17 7758593 7758593 + Silent SNP C C T TCGA-X6-A8C6-01A-11D-A36J-09 TCGA-X6-A8C6-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d08dfae-c1ce-467f-b80f-2ed6f269c01b b9a5db61-ec3f-4c18-8702-f4f3f32999e8 17 7758593 7758593 C T SNP TMEM88 ENST00000301599 human ensembl 74_37 +1 known silent c.201 p.C67 1.000 NULL NULL - no_errors TMEM88 HGNC ENSG00000167874 tier1 - - 37 0 0.00 24 4 14.29 KRT72 0 genome.wustl.edu 37 12 52979778 52979779 + Frame_Shift_Ins INS - - T TCGA-X6-A8C6-01A-11D-A36J-09 TCGA-X6-A8C6-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d08dfae-c1ce-467f-b80f-2ed6f269c01b b9a5db61-ec3f-4c18-8702-f4f3f32999e8 12 52979778 52979779 - T INS KRT72 ENST00000293745 human ensembl 74_37 -1 known frame_shift_ins c.1524_1523 p.A509fs 0.980:0.983 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT72 HGNC ENSG00000170486 tier1 58 0 0.00 31 11 26.19 AGMAT 0 genome.wustl.edu 37 1 15905439 15905439 + Missense_Mutation SNP C C T TCGA-X6-A8C6-01A-11D-A36J-09 TCGA-X6-A8C6-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d08dfae-c1ce-467f-b80f-2ed6f269c01b b9a5db61-ec3f-4c18-8702-f4f3f32999e8 1 15905439 15905439 C T SNP AGMAT ENST00000375826 human ensembl 74_37 -1 known missense c.635 p.G212D 1.000 pfam_Ureohydrolase,tigrfam_Agmatinase-rel pfam_Ureohydrolase,prints_Ureohydrolase,tigrfam_Agmatinase-rel - no_errors AGMAT HGNC ENSG00000116771 tier1 - - 57 0 0.00 26 4 13.33 CCDC113 0 genome.wustl.edu 37 16 58296368 58296368 + Missense_Mutation SNP T T C TCGA-X6-A8C6-01A-11D-A36J-09 TCGA-X6-A8C6-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d08dfae-c1ce-467f-b80f-2ed6f269c01b b9a5db61-ec3f-4c18-8702-f4f3f32999e8 16 58296368 58296368 T C SNP CCDC113 ENST00000219299 human ensembl 74_37 +1 known missense c.707 p.I236T 1.000 NULL NULL - no_errors CCDC113 HGNC ENSG00000103021 tier1 - - 97 0 0.00 22 9 29.03 ZNF716 0 genome.wustl.edu 37 7 57522798 57522798 + Silent SNP A A G TCGA-X6-A8C6-01A-11D-A36J-09 TCGA-X6-A8C6-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d08dfae-c1ce-467f-b80f-2ed6f269c01b b9a5db61-ec3f-4c18-8702-f4f3f32999e8 7 57522798 57522798 A G SNP ZNF716 ENST00000420713 human ensembl 74_37 +1 known silent c.186 p.P62 0.934 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF716 HGNC ENSG00000182111 tier1 - - 212 0 0.00 167 16 8.74 DBX1 0 genome.wustl.edu 37 11 20180809 20180809 + Missense_Mutation SNP G G A TCGA-X6-A8C6-01A-11D-A36J-09 TCGA-X6-A8C6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d08dfae-c1ce-467f-b80f-2ed6f269c01b b9a5db61-ec3f-4c18-8702-f4f3f32999e8 11 20180809 20180809 G A SNP DBX1 ENST00000227256 human ensembl 74_37 -1 known missense c.397 p.P133S 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors DBX1 HGNC ENSG00000109851 tier1 - - 25 0 0.00 19 4 17.39 RGPD4 0 genome.wustl.edu 37 2 108487751 108487751 + Silent SNP A A G TCGA-X6-A8C6-01A-11D-A36J-09 TCGA-X6-A8C6-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d08dfae-c1ce-467f-b80f-2ed6f269c01b b9a5db61-ec3f-4c18-8702-f4f3f32999e8 2 108487751 108487751 A G SNP RGPD4 ENST00000354986 human ensembl 74_37 +1 known silent c.3291 p.R1097 0.994 pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD4 HGNC ENSG00000196862 tier1 - - 397 0 0.00 258 36 12.24 SH3TC1 0 genome.wustl.edu 37 4 8221200 8221200 + Missense_Mutation SNP C C T TCGA-X6-A8C6-01A-11D-A36J-09 TCGA-X6-A8C6-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d08dfae-c1ce-467f-b80f-2ed6f269c01b b9a5db61-ec3f-4c18-8702-f4f3f32999e8 4 8221200 8221200 C T SNP SH3TC1 ENST00000245105 human ensembl 74_37 +1 known missense c.1055 p.S352L 0.025 superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain superfamily_SH3_domain,smart_SH3_domain,smart_TPR_repeat,pfscan_SH3_domain - no_errors SH3TC1 HGNC ENSG00000125089 tier1 rs141671122 - 274 0 0.00 154 19 10.92 CEPT1 0 genome.wustl.edu 37 1 111690319 111690320 + R INS - - A TCGA-X6-A8C6-01A-11D-A36J-09 TCGA-X6-A8C6-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d08dfae-c1ce-467f-b80f-2ed6f269c01b b9a5db61-ec3f-4c18-8702-f4f3f32999e8 1 111690319 111690320 - A INS CEPT1 ENST00000460443 human ensembl 74_37 +1 known rna NULL NULL 0.002:0.005 - - - no_errors CEPT1 HGNC ENSG00000134255 tier1 44 0 0.00 21 2 8.70 LEKR1 0 genome.wustl.edu 37 3 156645279 156645279 + Missense_Mutation SNP A A G TCGA-X6-A8C6-01A-11D-A36J-09 TCGA-X6-A8C6-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d08dfae-c1ce-467f-b80f-2ed6f269c01b b9a5db61-ec3f-4c18-8702-f4f3f32999e8 3 156645279 156645279 A G SNP LEKR1 ENST00000356539 human ensembl 74_37 +1 known missense c.445 p.K149E 0.993 NULL superfamily_Ribosomal_L29 - no_errors LEKR1 HGNC ENSG00000197980 tier1 - - 345 0 0.00 172 25 12.69 PCDHA11 0 genome.wustl.edu 37 5 140250813 140250813 + Missense_Mutation SNP C C A TCGA-X6-A8C6-01A-11D-A36J-09 TCGA-X6-A8C6-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d08dfae-c1ce-467f-b80f-2ed6f269c01b b9a5db61-ec3f-4c18-8702-f4f3f32999e8 5 140250813 140250813 C A SNP PCDHA11 ENST00000398640 human ensembl 74_37 +1 known missense c.2125 p.L709I 0.990 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA11 HGNC ENSG00000249158 tier1 - - 87 0 0.00 33 8 19.51 CIITA 0 genome.wustl.edu 37 16 11000787 11000787 + Missense_Mutation SNP G G A TCGA-X6-A8C6-01A-11D-A36J-09 TCGA-X6-A8C6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d08dfae-c1ce-467f-b80f-2ed6f269c01b b9a5db61-ec3f-4c18-8702-f4f3f32999e8 16 11000787 11000787 G A SNP CIITA ENST00000324288 human ensembl 74_37 +1 known missense c.1438 p.A480T 0.009 superfamily_P-loop_NTPase,pfscan_CHT_NTPase superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_CHT_NTPase,prints_MHC_II_transact - no_errors CIITA HGNC ENSG00000179583 tier1 - - 87 0 0.00 38 4 9.52 WISP2 0 genome.wustl.edu 37 20 43343871 43343876 + R DEL TGTGTG TGTGTG - TCGA-X6-A8C6-01A-11D-A36J-09 TCGA-X6-A8C6-10A-01D-A36M-09 TGTGTG TGTGTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d08dfae-c1ce-467f-b80f-2ed6f269c01b b9a5db61-ec3f-4c18-8702-f4f3f32999e8 20 43343871 43343876 TGTGTG - DEL WISP2 ENST00000497421 human ensembl 74_37 +1 known rna NULL NULL 0.044:0.049:0.052:0.062:0.059:0.007 - - - no_errors WISP2 HGNC ENSG00000064205 tier1 PGA5 0 genome.wustl.edu 37 11 61015868 61015868 + Missense_Mutation SNP T T A TCGA-X6-A8C6-01A-11D-A36J-09 TCGA-X6-A8C6-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d08dfae-c1ce-467f-b80f-2ed6f269c01b b9a5db61-ec3f-4c18-8702-f4f3f32999e8 11 61015868 61015868 T A SNP PGA5 ENST00000451616 human ensembl 74_37 +1 putative missense c.172 p.S58T 0.001 NULL pfam_Aspartic_peptidase,superfamily_Peptidase_aspartic_dom,prints_Aspartic_peptidase - no_errors PGA5 HGNC ENSG00000256713 tier1 - - 296 0 0.00 118 30 20.27 OR8K1 0 genome.wustl.edu 37 11 56113793 56113793 + Silent SNP G G T TCGA-X6-A8C6-01A-11D-A36J-09 TCGA-X6-A8C6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d08dfae-c1ce-467f-b80f-2ed6f269c01b b9a5db61-ec3f-4c18-8702-f4f3f32999e8 11 56113793 56113793 G T SNP OR8K1 ENST00000279783 human ensembl 74_37 +1 known silent c.279 p.V93 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8K1 HGNC ENSG00000150261 tier1 - - 32 0 0.00 22 3 12.00 AMBRA1 0 genome.wustl.edu 37 11 46456427 46456427 + Silent SNP C C A TCGA-X6-A8C6-01A-11D-A36J-09 TCGA-X6-A8C6-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d08dfae-c1ce-467f-b80f-2ed6f269c01b b9a5db61-ec3f-4c18-8702-f4f3f32999e8 11 46456427 46456427 C A SNP AMBRA1 ENST00000458649 human ensembl 74_37 -1 known silent c.2793 p.L931 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors AMBRA1 HGNC ENSG00000110497 tier1 - - 110 0 0.00 36 18 33.33 PFN2 0 genome.wustl.edu 37 3 149688614 149688614 + Missense_Mutation SNP G G T TCGA-X6-A8C6-01A-11D-A36J-09 TCGA-X6-A8C6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d08dfae-c1ce-467f-b80f-2ed6f269c01b b9a5db61-ec3f-4c18-8702-f4f3f32999e8 3 149688614 149688614 G T SNP PFN2 ENST00000239940 human ensembl 74_37 -1 known missense c.30 p.N10K 1.000 pfam_Profilin_eukaryotes/bac,superfamily_Profilin_eukaryotes/bac,smart_Profilin_eukaryotes/bac,prints_Profilin_chordates,prints_Profilin_eukaryotes/bac pfam_Profilin_eukaryotes/bac,superfamily_Profilin_eukaryotes/bac,smart_Profilin_eukaryotes/bac,prints_Profilin_chordates,prints_Profilin_eukaryotes/bac - no_errors PFN2 HGNC ENSG00000070087 tier1 - - 45 0 0.00 25 4 13.33 LAMC1 0 genome.wustl.edu 37 1 183086705 183086705 + Missense_Mutation SNP A A G TCGA-X6-A8C6-01A-11D-A36J-09 TCGA-X6-A8C6-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d08dfae-c1ce-467f-b80f-2ed6f269c01b b9a5db61-ec3f-4c18-8702-f4f3f32999e8 1 183086705 183086705 A G SNP LAMC1 ENST00000258341 human ensembl 74_37 +1 known missense c.1724 p.Q575R 1.000 pfam_Laminin_B_type_IV,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV pfam_Laminin_N,pfam_EGF_laminin,pfam_Laminin_B_type_IV,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMC1 HGNC ENSG00000135862 tier1 - - 70 0 0.00 42 4 8.70 TMEM192 0 genome.wustl.edu 37 4 166000894 166000894 + Nonsense_Mutation SNP G G T TCGA-X6-A8C6-01A-11D-A36J-09 TCGA-X6-A8C6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d08dfae-c1ce-467f-b80f-2ed6f269c01b b9a5db61-ec3f-4c18-8702-f4f3f32999e8 4 166000894 166000894 G T SNP TMEM192 ENST00000306480 human ensembl 74_37 -1 known nonsense c.732 p.Y244* 0.971 NULL NULL - no_errors TMEM192 HGNC ENSG00000170088 tier1 - - 98 0 0.00 46 4 8.00 KCNQ2 0 genome.wustl.edu 37 20 62038497 62038497 + Missense_Mutation SNP C C T TCGA-X6-A8C6-01A-11D-A36J-09 TCGA-X6-A8C6-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d08dfae-c1ce-467f-b80f-2ed6f269c01b b9a5db61-ec3f-4c18-8702-f4f3f32999e8 20 62038497 62038497 C T SNP KCNQ2 ENST00000354587 human ensembl 74_37 -1 known missense c.2143 p.A715T 0.000 NULL pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ2,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ2 HGNC ENSG00000075043 tier1 - - 35 0 0.00 26 6 18.75 LINC00652 0 genome.wustl.edu 37 20 18772427 18772427 + R SNP G G T TCGA-X6-A8C6-01A-11D-A36J-09 TCGA-X6-A8C6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d08dfae-c1ce-467f-b80f-2ed6f269c01b b9a5db61-ec3f-4c18-8702-f4f3f32999e8 20 18772427 18772427 G T SNP LINC00652 ENST00000454749 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors LINC00652 HGNC ENSG00000179935 tier1 - - 86 0 0.00 44 4 8.33 PKHD1 0 genome.wustl.edu 37 6 51776645 51776645 + Nonsense_Mutation SNP C C A TCGA-X6-A8C6-01A-11D-A36J-09 TCGA-X6-A8C6-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d08dfae-c1ce-467f-b80f-2ed6f269c01b b9a5db61-ec3f-4c18-8702-f4f3f32999e8 6 51776645 51776645 C A SNP PKHD1 ENST00000371117 human ensembl 74_37 -1 known nonsense c.6442 p.E2148* 0.992 NULL pfam_IPT,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT,smart_PbH1 - no_errors PKHD1 HGNC ENSG00000170927 tier1 - - 38 0 0.00 23 8 25.81 GRIN3A 0 genome.wustl.edu 37 9 104499623 104499623 + Missense_Mutation SNP G G C TCGA-X6-A8C6-01A-11D-A36J-09 TCGA-X6-A8C6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d08dfae-c1ce-467f-b80f-2ed6f269c01b b9a5db61-ec3f-4c18-8702-f4f3f32999e8 9 104499623 104499623 G C SNP GRIN3A ENST00000361820 human ensembl 74_37 -1 known missense c.639 p.S213R 0.746 superfamily_Peripla_BP_I pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,prints_NMDA_rcpt - no_errors GRIN3A HGNC ENSG00000198785 tier1 - - 49 0 0.00 48 6 10.91 WDR81 0 genome.wustl.edu 37 17 1630732 1630732 + Nonsense_Mutation SNP C C T TCGA-X6-A8C6-01A-11D-A36J-09 TCGA-X6-A8C6-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d08dfae-c1ce-467f-b80f-2ed6f269c01b b9a5db61-ec3f-4c18-8702-f4f3f32999e8 17 1630732 1630732 C T SNP WDR81 ENST00000409644 human ensembl 74_37 +1 known nonsense c.2479 p.Q827* 1.000 NULL pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Kinase-like_dom,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR81 HGNC ENSG00000167716 tier1 - - 89 0 0.00 71 23 24.47 TBCD 0 genome.wustl.edu 37 17 80828208 80828208 + Missense_Mutation SNP G G A TCGA-X6-A8C6-01A-11D-A36J-09 TCGA-X6-A8C6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d08dfae-c1ce-467f-b80f-2ed6f269c01b b9a5db61-ec3f-4c18-8702-f4f3f32999e8 17 80828208 80828208 G A SNP TBCD ENST00000355528 human ensembl 74_37 +1 known missense c.1427 p.R476H 0.949 superfamily_ARM-type_fold pfam_Tubulin_specific_chaperoneD_C,superfamily_ARM-type_fold - no_errors TBCD HGNC ENSG00000141556 tier1 - - 30 0 0.00 27 12 30.00 LIMK1 0 genome.wustl.edu 37 7 73535505 73535505 + Silent SNP C C T TCGA-X6-A8C6-01A-11D-A36J-09 TCGA-X6-A8C6-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d08dfae-c1ce-467f-b80f-2ed6f269c01b b9a5db61-ec3f-4c18-8702-f4f3f32999e8 7 73535505 73535505 C T SNP LIMK1 ENST00000336180 human ensembl 74_37 +1 known silent c.1818 p.T606 1.000 superfamily_Kinase-like_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Znf_LIM,pfam_PDZ,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,superfamily_PDZ,smart_Znf_LIM,smart_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_LIM,pfscan_PDZ,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors LIMK1 HGNC ENSG00000106683 tier1 - - 110 0 0.00 75 10 11.49 CHD7 0 genome.wustl.edu 37 8 61765390 61765390 + Missense_Mutation SNP C C T TCGA-X6-A8C6-01A-11D-A36J-09 TCGA-X6-A8C6-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d08dfae-c1ce-467f-b80f-2ed6f269c01b b9a5db61-ec3f-4c18-8702-f4f3f32999e8 8 61765390 61765390 C T SNP CHD7 ENST00000423902 human ensembl 74_37 +1 known missense c.6106 p.P2036S 0.996 NULL pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD7 HGNC ENSG00000171316 tier1 - - 137 0 0.00 50 20 28.57 CDH12 0 genome.wustl.edu 37 5 21752318 21752318 + Missense_Mutation SNP C C T TCGA-X6-A8C6-01A-11D-A36J-09 TCGA-X6-A8C6-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d08dfae-c1ce-467f-b80f-2ed6f269c01b b9a5db61-ec3f-4c18-8702-f4f3f32999e8 5 21752318 21752318 C T SNP CDH12 ENST00000382254 human ensembl 74_37 -1 known missense c.1913 p.R638Q 0.996 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH12 HGNC ENSG00000154162 tier1 - - 79 0 0.00 55 8 12.70 USP13 0 genome.wustl.edu 37 3 179439296 179439296 + Missense_Mutation SNP C C T TCGA-X6-A8C6-01A-11D-A36J-09 TCGA-X6-A8C6-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d08dfae-c1ce-467f-b80f-2ed6f269c01b b9a5db61-ec3f-4c18-8702-f4f3f32999e8 3 179439296 179439296 C T SNP USP13 ENST00000263966 human ensembl 74_37 +1 known missense c.1007 p.T336M 1.000 pfam_Peptidase_C19/C67,pirsf_Ubiquitinyl_hydrolase,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_UBA/Ts_N,pfam_Znf_UBP,superfamily_UBA-like,smart_Znf_UBP,smart_UBA/transl_elong_EF1B_N_euk,pirsf_Ubiquitinyl_hydrolase,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP13 HGNC ENSG00000058056 tier1 rs200851300 - 115 0 0.00 49 6 10.91 KDR 0 genome.wustl.edu 37 4 55973922 55973922 + Missense_Mutation SNP T T C TCGA-X6-A8C6-01A-11D-A36J-09 TCGA-X6-A8C6-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d08dfae-c1ce-467f-b80f-2ed6f269c01b b9a5db61-ec3f-4c18-8702-f4f3f32999e8 4 55973922 55973922 T C SNP KDR ENST00000263923 human ensembl 74_37 -1 known missense c.1394 p.E465G 0.992 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_VEGFR2_rcpt - no_errors KDR HGNC ENSG00000128052 tier1 - - 63 0 0.00 32 8 20.00 EMR4P 0 genome.wustl.edu 37 19 6953174 6953174 + R SNP T T C TCGA-X6-A8C6-01A-11D-A36J-09 TCGA-X6-A8C6-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d08dfae-c1ce-467f-b80f-2ed6f269c01b b9a5db61-ec3f-4c18-8702-f4f3f32999e8 19 6953174 6953174 T C SNP EMR4P ENST00000600751 human ensembl 74_37 -1 known rna NULL NULL 0.038 - - - no_errors EMR4P HGNC ENSG00000268758 tier1 - - 18 0 0.00 16 4 20.00 PGA5 0 genome.wustl.edu 37 11 61015869 61015869 + Missense_Mutation SNP C C A TCGA-X6-A8C6-01A-11D-A36J-09 TCGA-X6-A8C6-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d08dfae-c1ce-467f-b80f-2ed6f269c01b b9a5db61-ec3f-4c18-8702-f4f3f32999e8 11 61015869 61015869 C A SNP PGA5 ENST00000451616 human ensembl 74_37 +1 putative missense c.173 p.S58Y 0.005 NULL pfam_Aspartic_peptidase,superfamily_Peptidase_aspartic_dom,prints_Aspartic_peptidase - no_errors PGA5 HGNC ENSG00000256713 tier1 - - 296 0 0.00 121 30 19.87 MED23 0 genome.wustl.edu 37 6 131917389 131917389 + R DEL T T - TCGA-X6-A8C6-01A-11D-A36J-09 TCGA-X6-A8C6-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d08dfae-c1ce-467f-b80f-2ed6f269c01b b9a5db61-ec3f-4c18-8702-f4f3f32999e8 6 131917389 131917389 T - DEL MED23 ENST00000479213 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MED23 HGNC ENSG00000112282 tier1 59 0 0.00 23 3 11.54 LIMK1 0 genome.wustl.edu 37 7 73535474 73535474 + Missense_Mutation SNP C C T TCGA-X6-A8C6-01A-11D-A36J-09 TCGA-X6-A8C6-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d08dfae-c1ce-467f-b80f-2ed6f269c01b b9a5db61-ec3f-4c18-8702-f4f3f32999e8 7 73535474 73535474 C T SNP LIMK1 ENST00000336180 human ensembl 74_37 +1 known missense c.1787 p.S596F 0.674 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Znf_LIM,pfam_PDZ,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,superfamily_PDZ,smart_Znf_LIM,smart_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_LIM,pfscan_PDZ,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors LIMK1 HGNC ENSG00000106683 tier1 - - 102 0 0.00 83 19 18.45 PDS5A 0 genome.wustl.edu 37 4 39900418 39900421 + Frame_Shift_Del DEL CAAA CAAA - TCGA-X6-A8C6-01A-11D-A36J-09 TCGA-X6-A8C6-10A-01D-A36M-09 CAAA CAAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d08dfae-c1ce-467f-b80f-2ed6f269c01b b9a5db61-ec3f-4c18-8702-f4f3f32999e8 4 39900418 39900421 CAAA - DEL PDS5A ENST00000303538 human ensembl 74_37 -1 known frame_shift_del c.1609_1606 p.F536fs 1.000:1.000:1.000:1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors PDS5A HGNC ENSG00000121892 tier1 111 0 0.00 46 18 28.12 FOXM1 0 genome.wustl.edu 37 12 2974538 2974538 + Missense_Mutation SNP G G A TCGA-X6-A8C6-01A-11D-A36J-09 TCGA-X6-A8C6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d08dfae-c1ce-467f-b80f-2ed6f269c01b b9a5db61-ec3f-4c18-8702-f4f3f32999e8 12 2974538 2974538 G A SNP FOXM1 ENST00000342628 human ensembl 74_37 -1 known missense c.1003 p.P335S 0.999 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXM1 HGNC ENSG00000111206 tier1 - - 101 1 0.98 33 4 10.81 NFRKB 0 genome.wustl.edu 37 11 129739602 129739602 + Silent SNP G G A TCGA-X6-A8C6-01A-11D-A36J-09 TCGA-X6-A8C6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d08dfae-c1ce-467f-b80f-2ed6f269c01b b9a5db61-ec3f-4c18-8702-f4f3f32999e8 11 129739602 129739602 G A SNP NFRKB ENST00000524794 human ensembl 74_37 -1 known silent c.3393 p.T1131 0.002 NULL NULL - no_errors NFRKB HGNC ENSG00000170322 tier1 - - 69 0 0.00 31 6 16.22 URB1 0 genome.wustl.edu 37 21 33709729 33709729 + Silent SNP G G T TCGA-X6-A8C6-01A-11D-A36J-09 TCGA-X6-A8C6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d08dfae-c1ce-467f-b80f-2ed6f269c01b b9a5db61-ec3f-4c18-8702-f4f3f32999e8 21 33709729 33709729 G T SNP URB1 ENST00000382751 human ensembl 74_37 -1 known silent c.4605 p.A1535 0.986 NULL pfam_Npa1_N,superfamily_ARM-type_fold - no_errors URB1 HGNC ENSG00000142207 tier1 - - 74 0 0.00 22 4 15.38 TAS1R2 0 genome.wustl.edu 37 1 19186142 19186142 + Missense_Mutation SNP C C T TCGA-X6-A8C6-01A-11D-A36J-09 TCGA-X6-A8C6-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d08dfae-c1ce-467f-b80f-2ed6f269c01b b9a5db61-ec3f-4c18-8702-f4f3f32999e8 1 19186142 19186142 C T SNP TAS1R2 ENST00000375371 human ensembl 74_37 -1 novel missense c.13 p.A5T 0.000 NULL pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3 - no_errors TAS1R2 HGNC ENSG00000179002 tier1 - - 92 0 0.00 41 4 8.89 SLC7A5 0 genome.wustl.edu 37 16 87873327 87873327 + Missense_Mutation SNP G G A TCGA-X6-A8C6-01A-11D-A36J-09 TCGA-X6-A8C6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d08dfae-c1ce-467f-b80f-2ed6f269c01b b9a5db61-ec3f-4c18-8702-f4f3f32999e8 16 87873327 87873327 G A SNP SLC7A5 ENST00000261622 human ensembl 74_37 -1 known missense c.920 p.S307L 0.000 pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1,tigrfam_L_AA_transporter pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1,tigrfam_L_AA_transporter - no_errors SLC7A5 HGNC ENSG00000103257 tier1 rs202090522 GMAF=0 135 0 0.00 52 9 14.75 NBEA 0 genome.wustl.edu 37 13 36242619 36242619 + Missense_Mutation SNP G G T TCGA-X6-A8C6-01A-11D-A36J-09 TCGA-X6-A8C6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d08dfae-c1ce-467f-b80f-2ed6f269c01b b9a5db61-ec3f-4c18-8702-f4f3f32999e8 13 36242619 36242619 G T SNP NBEA ENST00000310336 human ensembl 74_37 +1 known missense c.8713 p.A2905S 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom - no_errors NBEA HGNC ENSG00000172915 tier1 - - 91 0 0.00 42 4 8.70 ZBBX 0 genome.wustl.edu 37 3 167031854 167031854 + Missense_Mutation SNP A A G TCGA-X6-A8C6-01A-11D-A36J-09 TCGA-X6-A8C6-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d08dfae-c1ce-467f-b80f-2ed6f269c01b b9a5db61-ec3f-4c18-8702-f4f3f32999e8 3 167031854 167031854 A G SNP ZBBX ENST00000307529 human ensembl 74_37 -1 known missense c.1325 p.I442T 0.000 NULL pfam_Znf_B-box - no_errors ZBBX HGNC ENSG00000169064 tier1 - - 107 0 0.00 39 14 26.42 ZXDC 0 genome.wustl.edu 37 3 126194056 126194056 + Missense_Mutation SNP G G A TCGA-X6-A8C6-01A-11D-A36J-09 TCGA-X6-A8C6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d08dfae-c1ce-467f-b80f-2ed6f269c01b b9a5db61-ec3f-4c18-8702-f4f3f32999e8 3 126194056 126194056 G A SNP ZXDC ENST00000389709 human ensembl 74_37 -1 known missense c.653 p.A218V 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZXDC HGNC ENSG00000070476 tier1 - - 50 0 0.00 30 9 23.08 SIM1 0 genome.wustl.edu 37 6 100868711 100868711 + Silent SNP C C A TCGA-X6-A8C6-01A-11D-A36J-09 TCGA-X6-A8C6-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d08dfae-c1ce-467f-b80f-2ed6f269c01b b9a5db61-ec3f-4c18-8702-f4f3f32999e8 6 100868711 100868711 C A SNP SIM1 ENST00000262901 human ensembl 74_37 -1 known silent c.1122 p.R374 0.953 pfam_SIM_C pfam_SIM_C,pfam_PAS_fold_3,pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_bHLH_dom - no_errors SIM1 HGNC ENSG00000112246 tier1 - - 119 0 0.00 80 7 8.05 LOC100128714 0 genome.wustl.edu 37 15 26260573 26260573 + R SNP C C A TCGA-X6-A8C6-01A-11D-A36J-09 TCGA-X6-A8C6-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d08dfae-c1ce-467f-b80f-2ed6f269c01b b9a5db61-ec3f-4c18-8702-f4f3f32999e8 15 26260573 26260573 C A SNP LOC100128714 ENST00000383019 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors RP11-1084I9.1 Clone_based_vega_gene ENSG00000206187 tier1 - - 129 0 0.00 63 12 16.00 RTEL1 0 genome.wustl.edu 37 20 62326741 62326741 + Missense_Mutation SNP A A G TCGA-X6-A8C6-01A-11D-A36J-09 TCGA-X6-A8C6-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d08dfae-c1ce-467f-b80f-2ed6f269c01b b9a5db61-ec3f-4c18-8702-f4f3f32999e8 20 62326741 62326741 A G SNP RTEL1 ENST00000318100 human ensembl 74_37 +1 known missense c.3560 p.Q1187R 0.000 NULL pfam_DEAD_2,superfamily_P-loop_NTPase,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_D_helicase_D-repair_Rad3 - no_errors RTEL1 HGNC ENSG00000258366 tier1 - - 286 0 0.00 272 74 21.39 BST1 0 genome.wustl.edu 37 4 15733416 15733416 + Missense_Mutation SNP C C T TCGA-X6-A8C6-01A-11D-A36J-09 TCGA-X6-A8C6-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d08dfae-c1ce-467f-b80f-2ed6f269c01b b9a5db61-ec3f-4c18-8702-f4f3f32999e8 4 15733416 15733416 C T SNP BST1 ENST00000265016 human ensembl 74_37 +1 known missense c.905 p.A302V 0.000 NULL pfam_ADP-ribosyl_cyclase - no_errors BST1 HGNC ENSG00000109743 tier1 - - 115 0 0.00 72 7 8.86 PCDHA7 0 genome.wustl.edu 37 5 140214407 140214407 + Missense_Mutation SNP C C G TCGA-X6-A8C6-01A-11D-A36J-09 TCGA-X6-A8C6-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d08dfae-c1ce-467f-b80f-2ed6f269c01b b9a5db61-ec3f-4c18-8702-f4f3f32999e8 5 140214407 140214407 C G SNP PCDHA7 ENST00000525929 human ensembl 74_37 +1 known missense c.439 p.P147A 0.006 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA7 HGNC ENSG00000204963 tier1 - - 58 0 0.00 29 7 19.44 CNTP3 0 genome.wustl.edu 37 9 39165950 39165950 + Missense_Mutation SNP C C T TCGA-X6-A8C6-01A-11D-A36J-09 TCGA-X6-A8C6-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d08dfae-c1ce-467f-b80f-2ed6f269c01b b9a5db61-ec3f-4c18-8702-f4f3f32999e8 9 39165950 39165950 C T SNP CNTP3 ENST00000297668 human ensembl 74_37 -1 known missense c.1457 p.G486D 0.093 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTP3 HGNC ENSG00000106714 tier1 - - 71 0 0.00 26 5 16.13 PDLIM4 0 genome.wustl.edu 37 5 131607824 131607824 + Missense_Mutation SNP C C T TCGA-X6-A8C6-01A-11D-A36J-09 TCGA-X6-A8C6-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d08dfae-c1ce-467f-b80f-2ed6f269c01b b9a5db61-ec3f-4c18-8702-f4f3f32999e8 5 131607824 131607824 C T SNP PDLIM4 ENST00000253754 human ensembl 74_37 +1 known missense c.895 p.R299W 0.999 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_PDZ,pfam_Znf_LIM,superfamily_PDZ,smart_PDZ,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ - no_errors PDLIM4 HGNC ENSG00000131435 tier1 - - 50 0 0.00 36 4 10.00 HMOX1 0 genome.wustl.edu 37 22 35785936 35785936 + Missense_Mutation SNP G G A TCGA-X6-A8C6-01A-11D-A36J-09 TCGA-X6-A8C6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d08dfae-c1ce-467f-b80f-2ed6f269c01b b9a5db61-ec3f-4c18-8702-f4f3f32999e8 22 35785936 35785936 G A SNP HMOX1 ENST00000216117 human ensembl 74_37 +1 known missense c.716 p.R239Q 0.000 superfamily_Haem_Oase-like_multi-hlx,pirsf_Haem_Oase pfam_Haem_Oase-like,superfamily_Haem_Oase-like_multi-hlx,pirsf_Haem_Oase,prints_Haem_Oase - no_errors HMOX1 HGNC ENSG00000100292 tier1 rs201083816 - 42 0 0.00 14 6 30.00 HYOU1 0 genome.wustl.edu 37 11 118919434 118919434 + Silent SNP C C T TCGA-X6-A8C6-01A-11D-A36J-09 TCGA-X6-A8C6-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d08dfae-c1ce-467f-b80f-2ed6f269c01b b9a5db61-ec3f-4c18-8702-f4f3f32999e8 11 118919434 118919434 C T SNP HYOU1 ENST00000404233 human ensembl 74_37 -1 known silent c.2157 p.S719 0.001 pfam_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HYOU1 HGNC ENSG00000149428 tier1 - - 35 0 0.00 16 3 15.79 R3HCC1 0 genome.wustl.edu 37 8 23146092 23146092 + Missense_Mutation SNP T T A TCGA-X6-A8C6-01A-11D-A36J-09 TCGA-X6-A8C6-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d08dfae-c1ce-467f-b80f-2ed6f269c01b b9a5db61-ec3f-4c18-8702-f4f3f32999e8 8 23146092 23146092 T A SNP R3HCC1 ENST00000411463 human ensembl 74_37 +1 known missense c.176 p.V59D 0.998 smart_R3H_ss-bd,pfscan_R3H_ss-bd pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd - no_errors R3HCC1 HGNC ENSG00000104679 tier1 - - 73 0 0.00 45 7 13.46 ZCCHC17 0 genome.wustl.edu 37 1 31836898 31836899 + Frame_Shift_Del DEL AT AT - TCGA-X6-A8C6-01A-11D-A36J-09 TCGA-X6-A8C6-10A-01D-A36M-09 AT AT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d08dfae-c1ce-467f-b80f-2ed6f269c01b b9a5db61-ec3f-4c18-8702-f4f3f32999e8 1 31836898 31836899 AT - DEL ZCCHC17 ENST00000422613 human ensembl 74_37 +1 known frame_shift_del c.590_591 p.H197fs 1.000:0.988 NULL pfam_Rbsml_prot_S1_R-bd_dom,superfamily_-bd_OB-fold,smart_R-binding_domain_S1,pfscan_Rbsml_prot_S1_R-bd_dom - no_errors ZCCHC17 HGNC ENSG00000121766 tier1 26 0 0.00 10 5 33.33 CENPJ 0 genome.wustl.edu 37 13 25486721 25486721 + Missense_Mutation SNP T T C TCGA-X6-A8C6-01A-11D-A36J-09 TCGA-X6-A8C6-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d08dfae-c1ce-467f-b80f-2ed6f269c01b b9a5db61-ec3f-4c18-8702-f4f3f32999e8 13 25486721 25486721 T C SNP CENPJ ENST00000381884 human ensembl 74_37 -1 known missense c.443 p.Q148R 1.000 NULL pfam_Tcp10_C_dom - no_errors CENPJ HGNC ENSG00000151849 tier1 - - 92 0 0.00 43 4 8.51 CACNG3 0 genome.wustl.edu 37 16 24372825 24372825 + Missense_Mutation SNP G G A TCGA-X6-A8C6-01A-11D-A36J-09 TCGA-X6-A8C6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d08dfae-c1ce-467f-b80f-2ed6f269c01b b9a5db61-ec3f-4c18-8702-f4f3f32999e8 16 24372825 24372825 G A SNP CACNG3 ENST00000005284 human ensembl 74_37 +1 known missense c.589 p.V197M 1.000 NULL pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_gsu - no_errors CACNG3 HGNC ENSG00000006116 tier1 - - 128 0 0.00 66 10 13.16 GPR125 0 genome.wustl.edu 37 4 22389640 22389640 + Silent SNP C C T TCGA-X6-A8C6-01A-11D-A36J-09 TCGA-X6-A8C6-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d08dfae-c1ce-467f-b80f-2ed6f269c01b b9a5db61-ec3f-4c18-8702-f4f3f32999e8 4 22389640 22389640 C T SNP GPR125 ENST00000334304 human ensembl 74_37 -1 known silent c.3654 p.S1218 0.000 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_GPCR_2_extracellular_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,pfscan_Ig-like_dom - no_errors GPR125 HGNC ENSG00000152990 tier1 - - 169 0 0.00 90 22 19.64 CRYBB2 0 genome.wustl.edu 37 22 25620893 25620893 + Silent SNP C C A TCGA-X6-A8C6-01A-11D-A36J-09 TCGA-X6-A8C6-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d08dfae-c1ce-467f-b80f-2ed6f269c01b b9a5db61-ec3f-4c18-8702-f4f3f32999e8 22 25620893 25620893 C A SNP CRYBB2 ENST00000398215 human ensembl 74_37 +1 known silent c.63 p.I21 1.000 pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYBB2 HGNC ENSG00000244752 tier1 - - 91 0 0.00 51 27 34.62 DKFZP434K028 0 genome.wustl.edu 37 11 61513968 61513969 + R INS - - C TCGA-X6-A8C6-01A-11D-A36J-09 TCGA-X6-A8C6-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d08dfae-c1ce-467f-b80f-2ed6f269c01b b9a5db61-ec3f-4c18-8702-f4f3f32999e8 11 61513968 61513969 - C INS DKFZP434K028 ENST00000536405 human ensembl 74_37 -1 known rna NULL NULL 0.996:0.997 - - - no_errors RP11-467L20.10 Clone_based_vega_gene ENSG00000124915 tier1 165 0 0.00 97 20 17.09 PCDHA3 0 genome.wustl.edu 37 5 140182250 140182250 + Missense_Mutation SNP G G A TCGA-X6-A8C6-01A-11D-A36J-09 TCGA-X6-A8C6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d08dfae-c1ce-467f-b80f-2ed6f269c01b b9a5db61-ec3f-4c18-8702-f4f3f32999e8 5 140182250 140182250 G A SNP PCDHA3 ENST00000522353 human ensembl 74_37 +1 known missense c.1468 p.V490M 0.730 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA3 HGNC ENSG00000255408 tier1 - - 266 0 0.00 96 14 12.73 MEF2C 0 genome.wustl.edu 37 5 88178836 88178837 + R INS - - A TCGA-X6-A8C6-01A-11D-A36J-09 TCGA-X6-A8C6-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d08dfae-c1ce-467f-b80f-2ed6f269c01b b9a5db61-ec3f-4c18-8702-f4f3f32999e8 5 88178836 88178837 - A INS MEF2C ENST00000509349 human ensembl 74_37 -1 known rna NULL NULL 0.001:0.000 - - - no_errors MEF2C HGNC ENSG00000081189 tier1 41 0 0.00 11 4 26.67 ZMYM3 0 genome.wustl.edu 37 X 70464192 70464192 + Silent SNP G G T TCGA-X6-A8C6-01A-11D-A36J-09 TCGA-X6-A8C6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d08dfae-c1ce-467f-b80f-2ed6f269c01b b9a5db61-ec3f-4c18-8702-f4f3f32999e8 X 70464192 70464192 G T SNP ZMYM3 ENST00000373988 human ensembl 74_37 -1 known silent c.3246 p.A1082 1.000 NULL pfam_Znf_MYM,pfam_DUF3504,smart_TRASH_dom - no_errors ZMYM3 HGNC ENSG00000147130 tier1 - - 53 0 0.00 41 4 8.89 PHRF1 0 genome.wustl.edu 37 11 598385 598385 + Missense_Mutation SNP C C T TCGA-X6-A8C6-01A-11D-A36J-09 TCGA-X6-A8C6-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d08dfae-c1ce-467f-b80f-2ed6f269c01b b9a5db61-ec3f-4c18-8702-f4f3f32999e8 11 598385 598385 C T SNP PHRF1 ENST00000264555 human ensembl 74_37 +1 known missense c.907 p.R303C 0.830 NULL pfam_Znf_PHD-finger,pfam_Znf_C3HC4_RING-type,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors PHRF1 HGNC ENSG00000070047 tier1 - - 172 0 0.00 66 19 22.09 CAC1A 0 genome.wustl.edu 37 19 13373594 13373594 + Missense_Mutation SNP C C T TCGA-X6-A8C6-01A-11D-A36J-09 TCGA-X6-A8C6-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d08dfae-c1ce-467f-b80f-2ed6f269c01b b9a5db61-ec3f-4c18-8702-f4f3f32999e8 19 13373594 13373594 C T SNP CAC1A ENST00000360228 human ensembl 74_37 -1 known missense c.4043 p.R1348Q 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su - no_errors CAC1A HGNC ENSG00000141837 tier1 - - 128 0 0.00 71 10 12.35 NDUFV3 0 genome.wustl.edu 37 21 44328980 44328980 + Missense_Mutation SNP C C T TCGA-X6-A8C6-01A-11D-A36J-09 TCGA-X6-A8C6-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d08dfae-c1ce-467f-b80f-2ed6f269c01b b9a5db61-ec3f-4c18-8702-f4f3f32999e8 21 44328980 44328980 C T SNP NDUFV3 ENST00000354250 human ensembl 74_37 +1 known missense c.1271 p.A424V 0.001 NULL NULL - no_errors NDUFV3 HGNC ENSG00000160194 tier1 - - 129 0 0.00 56 5 8.20 ASTE1 0 genome.wustl.edu 37 3 130733046 130733047 + Frame_Shift_Ins INS - - T TCGA-X6-A8C6-01A-11D-A36J-09 TCGA-X6-A8C6-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d08dfae-c1ce-467f-b80f-2ed6f269c01b b9a5db61-ec3f-4c18-8702-f4f3f32999e8 3 130733046 130733047 - T INS ASTE1 ENST00000264992 human ensembl 74_37 -1 known frame_shift_ins c.1895_1894 p.R632fs 0.003:0.014 NULL pfam_XPG_D_repair_N - no_errors ASTE1 HGNC ENSG00000034533 tier1 49 0 0.00 27 5 15.62 ZFP42 0 genome.wustl.edu 37 4 188924433 188924433 + Frame_Shift_Del DEL C C - TCGA-X6-A8C6-01A-11D-A36J-09 TCGA-X6-A8C6-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d08dfae-c1ce-467f-b80f-2ed6f269c01b b9a5db61-ec3f-4c18-8702-f4f3f32999e8 4 188924433 188924433 C - DEL ZFP42 ENST00000326866 human ensembl 74_37 +1 known frame_shift_del c.472 p.P158fs 0.997 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFP42 HGNC ENSG00000179059 tier1 67 0 0.00 18 2 10.00 EPHA7 0 genome.wustl.edu 37 6 93955133 93955133 + Frame_Shift_Del DEL A A - TCGA-X6-A8C6-01A-11D-A36J-09 TCGA-X6-A8C6-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d08dfae-c1ce-467f-b80f-2ed6f269c01b b9a5db61-ec3f-4c18-8702-f4f3f32999e8 6 93955133 93955133 A - DEL EPHA7 ENST00000369303 human ensembl 74_37 -1 known frame_shift_del c.2765 p.F922fs 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA7 HGNC ENSG00000135333 tier1 89 0 0.00 49 10 16.95 PCDHGA11 0 genome.wustl.edu 37 5 140801828 140801828 + Missense_Mutation SNP C C A TCGA-X6-A8C6-01A-11D-A36J-09 TCGA-X6-A8C6-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d08dfae-c1ce-467f-b80f-2ed6f269c01b b9a5db61-ec3f-4c18-8702-f4f3f32999e8 5 140801828 140801828 C A SNP PCDHGA11 ENST00000398587 human ensembl 74_37 +1 known missense c.1034 p.A345D 0.926 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA11 HGNC ENSG00000253873 tier1 - - 82 0 0.00 45 4 8.16 RBM15B 0 genome.wustl.edu 37 3 51430822 51430824 + In_Frame_Del DEL CCA CCA - TCGA-X6-A8C6-01A-11D-A36J-09 TCGA-X6-A8C6-10A-01D-A36M-09 CCA CCA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d08dfae-c1ce-467f-b80f-2ed6f269c01b b9a5db61-ec3f-4c18-8702-f4f3f32999e8 3 51430822 51430824 CCA - DEL RBM15B ENST00000323686 human ensembl 74_37 +1 known in_frame_del c.1992_1994 p.H668in_frame_del 1.000:1.000:0.998 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC_like_C_dom,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors RBM15B HGNC ENSG00000179837 tier1 31 0 0.00 6 2 25.00 NOC4L 0 genome.wustl.edu 37 12 132632204 132632204 + Silent SNP T T A TCGA-X6-A8C6-01A-11D-A36J-09 TCGA-X6-A8C6-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d08dfae-c1ce-467f-b80f-2ed6f269c01b b9a5db61-ec3f-4c18-8702-f4f3f32999e8 12 132632204 132632204 T A SNP NOC4L ENST00000330579 human ensembl 74_37 +1 known silent c.480 p.P160 0.000 superfamily_ARM-type_fold pfam_CCAAT-binding_factor,superfamily_ARM-type_fold - no_errors NOC4L HGNC ENSG00000184967 tier1 - - 116 0 0.00 64 12 15.79 MYO18B 0 genome.wustl.edu 37 22 26239728 26239728 + Nonsense_Mutation SNP C C T TCGA-X6-A8C6-01A-11D-A36J-09 TCGA-X6-A8C6-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d08dfae-c1ce-467f-b80f-2ed6f269c01b b9a5db61-ec3f-4c18-8702-f4f3f32999e8 22 26239728 26239728 C T SNP MYO18B ENST00000335473 human ensembl 74_37 +1 known nonsense c.3235 p.Q1079* 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,superfamily_tR-bd_arm,superfamily_Ribosomal_zn-bd,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO18B HGNC ENSG00000133454 tier1 - - 42 0 0.00 29 4 12.12 MT-CO1 0 genome.wustl.edu 37 MT 6287 6287 + Silent SNP C C G TCGA-X6-A8C6-01A-11D-A36J-09 TCGA-X6-A8C6-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d08dfae-c1ce-467f-b80f-2ed6f269c01b b9a5db61-ec3f-4c18-8702-f4f3f32999e8 MT 6287 6287 C G SNP MT-CO1 ENST00000361624 human ensembl 74_37 +1 known silent c.384 p.V128 NULL pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1 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 - - 19 0 0.00 6 2 25.00 MIR3648 0 genome.wustl.edu 37 21 9826011 9826011 + R SNP G G A TCGA-X6-A8C6-01A-11D-A36J-09 TCGA-X6-A8C6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d08dfae-c1ce-467f-b80f-2ed6f269c01b b9a5db61-ec3f-4c18-8702-f4f3f32999e8 21 9826011 9826011 G A SNP MIR3648 ENST00000581792 human ensembl 74_37 +1 known rna NULL NULL 0.084 - - - no_errors MIR3648 HGNC ENSG00000264462 tier1 - - 31 0 0.00 9 5 35.71 DIAPH1 0 genome.wustl.edu 37 5 140966629 140966629 + Missense_Mutation SNP C C G TCGA-X6-A8C6-01A-11D-A36J-09 TCGA-X6-A8C6-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d08dfae-c1ce-467f-b80f-2ed6f269c01b b9a5db61-ec3f-4c18-8702-f4f3f32999e8 5 140966629 140966629 C G SNP DIAPH1 ENST00000253811 human ensembl 74_37 -1 known missense c.280 p.V94L 1.000 pfam_GTPase-bd pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_Formin_homology_1,pfam_Drf_DAD,superfamily_ARM-type_fold,superfamily_tR-bd_arm,smart_FH2_Formin - no_errors DIAPH1 HGNC ENSG00000131504 tier1 - - 89 0 0.00 36 4 10.00 KMT2E 0 genome.wustl.edu 37 7 104747869 104747869 + Missense_Mutation SNP G G A TCGA-X6-A8C6-01A-11D-A36J-09 TCGA-X6-A8C6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d08dfae-c1ce-467f-b80f-2ed6f269c01b b9a5db61-ec3f-4c18-8702-f4f3f32999e8 7 104747869 104747869 G A SNP KMT2E ENST00000257745 human ensembl 74_37 +1 known missense c.2965 p.E989K 1.000 NULL pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_PHD-finger - no_errors KMT2E HGNC ENSG00000005483 tier1 - - 121 0 0.00 72 25 25.77 RBMS2 0 genome.wustl.edu 37 12 56975275 56975275 + Missense_Mutation SNP C C T TCGA-X6-A8C6-01A-11D-A36J-09 TCGA-X6-A8C6-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d08dfae-c1ce-467f-b80f-2ed6f269c01b b9a5db61-ec3f-4c18-8702-f4f3f32999e8 12 56975275 56975275 C T SNP RBMS2 ENST00000262031 human ensembl 74_37 +1 known missense c.715 p.P239S 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBMS2 HGNC ENSG00000076067 tier1 - - 83 0 0.00 42 5 10.64 TSTD3 0 genome.wustl.edu 37 6 99968898 99968899 + R INS - - GCGCC TCGA-X6-A8C6-01A-11D-A36J-09 TCGA-X6-A8C6-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d08dfae-c1ce-467f-b80f-2ed6f269c01b b9a5db61-ec3f-4c18-8702-f4f3f32999e8 6 99968898 99968899 - GCGCC INS TSTD3 ENST00000452647 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors TSTD3 HGNC ENSG00000228439 tier1 BCAS3 0 genome.wustl.edu 37 17 59161917 59161917 + Missense_Mutation SNP C C T TCGA-X6-A8C6-01A-11D-A36J-09 TCGA-X6-A8C6-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d08dfae-c1ce-467f-b80f-2ed6f269c01b b9a5db61-ec3f-4c18-8702-f4f3f32999e8 17 59161917 59161917 C T SNP BCAS3 ENST00000390652 human ensembl 74_37 +1 known missense c.2462 p.A821V 1.000 NULL pfam_BCAS3,pfam_WD40_repeat - no_errors BCAS3 HGNC ENSG00000141376 tier1 - - 50 0 0.00 20 3 13.04 OR11L1 0 genome.wustl.edu 37 1 248004931 248004931 + Missense_Mutation SNP G G T TCGA-X6-A8C6-01A-11D-A36J-09 TCGA-X6-A8C6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d08dfae-c1ce-467f-b80f-2ed6f269c01b b9a5db61-ec3f-4c18-8702-f4f3f32999e8 1 248004931 248004931 G T SNP OR11L1 ENST00000355784 human ensembl 74_37 -1 known missense c.268 p.Q90K 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR11L1 HGNC ENSG00000197591 tier1 - - 106 0 0.00 44 4 8.16 C9orf78 0 genome.wustl.edu 37 9 132596000 132596001 + R INS - - A TCGA-X6-A8C6-01A-11D-A36J-09 TCGA-X6-A8C6-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d08dfae-c1ce-467f-b80f-2ed6f269c01b b9a5db61-ec3f-4c18-8702-f4f3f32999e8 9 132596000 132596001 - A INS C9orf78 ENST00000461762 human ensembl 74_37 -1 known rna NULL NULL 0.062:0.115 - - - no_errors C9orf78 HGNC ENSG00000136819 tier1 47 0 0.00 18 4 18.18 APCDD1L 0 genome.wustl.edu 37 20 57042566 57042566 + Missense_Mutation SNP G G A TCGA-X6-A8C6-01A-11D-A36J-09 TCGA-X6-A8C6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d08dfae-c1ce-467f-b80f-2ed6f269c01b b9a5db61-ec3f-4c18-8702-f4f3f32999e8 20 57042566 57042566 G A SNP APCDD1L ENST00000439429 human ensembl 74_37 -1 known missense c.370 p.R124C 1.000 NULL NULL - no_errors APCDD1L HGNC ENSG00000198768 tier1 - - 33 0 0.00 25 10 28.57 GRIA1 0 genome.wustl.edu 37 5 153078608 153078608 + Missense_Mutation SNP G G A TCGA-X6-A8C6-01A-11D-A36J-09 TCGA-X6-A8C6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d08dfae-c1ce-467f-b80f-2ed6f269c01b b9a5db61-ec3f-4c18-8702-f4f3f32999e8 5 153078608 153078608 G A SNP GRIA1 ENST00000448073 human ensembl 74_37 +1 known missense c.1457 p.G486D 1.000 pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_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 GRIA1 HGNC ENSG00000155511 tier1 - - 76 0 0.00 36 4 10.00 RBP2 0 genome.wustl.edu 37 3 139173627 139173627 + Missense_Mutation SNP C C T TCGA-X6-A8C6-01A-11D-A36J-09 TCGA-X6-A8C6-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d08dfae-c1ce-467f-b80f-2ed6f269c01b b9a5db61-ec3f-4c18-8702-f4f3f32999e8 3 139173627 139173627 C T SNP RBP2 ENST00000232217 human ensembl 74_37 -1 known missense c.298 p.G100R 1.000 pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Fatty_acid-bd - no_errors RBP2 HGNC ENSG00000114113 tier1 - - 102 0 0.00 43 8 15.69 HHLA1 0 genome.wustl.edu 37 8 133113449 133113449 + Silent SNP G G A TCGA-X6-A8C6-01A-11D-A36J-09 TCGA-X6-A8C6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d08dfae-c1ce-467f-b80f-2ed6f269c01b b9a5db61-ec3f-4c18-8702-f4f3f32999e8 8 133113449 133113449 G A SNP HHLA1 ENST00000434736 human ensembl 74_37 -1 novel silent c.246 p.L82 0.001 NULL NULL - no_errors HHLA1 HGNC ENSG00000132297 tier1 - - 104 0 0.00 42 4 8.70 LAMA4 0 genome.wustl.edu 37 6 112512893 112512893 + Nonsense_Mutation SNP A A T TCGA-X6-A8C6-01A-11D-A36J-09 TCGA-X6-A8C6-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d08dfae-c1ce-467f-b80f-2ed6f269c01b b9a5db61-ec3f-4c18-8702-f4f3f32999e8 6 112512893 112512893 A T SNP LAMA4 ENST00000230538 human ensembl 74_37 -1 known nonsense c.663 p.C221* 1.000 pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom,pfscan_EGF_laminin pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_II,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Focal_adhesion_kin_target_dom,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Laminin_G - no_errors LAMA4 HGNC ENSG00000112769 tier1 - - 77 0 0.00 39 7 15.22 EMILIN2 0 genome.wustl.edu 37 18 2847815 2847815 + Missense_Mutation SNP G G T TCGA-X6-A8C6-01A-11D-A36J-09 TCGA-X6-A8C6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d08dfae-c1ce-467f-b80f-2ed6f269c01b b9a5db61-ec3f-4c18-8702-f4f3f32999e8 18 2847815 2847815 G T SNP EMILIN2 ENST00000254528 human ensembl 74_37 +1 known missense c.143 p.C48F 1.000 pfam_EMI_domain,pfscan_EMI_domain pfam_EMI_domain,pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,pfscan_EMI_domain - no_errors EMILIN2 HGNC ENSG00000132205 tier1 - - 74 0 0.00 28 4 12.50 KIR2DL1 0 genome.wustl.edu 37 19 55284998 55284998 + Missense_Mutation SNP C C T TCGA-X6-A8C6-01A-11D-A36J-09 TCGA-X6-A8C6-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d08dfae-c1ce-467f-b80f-2ed6f269c01b b9a5db61-ec3f-4c18-8702-f4f3f32999e8 19 55284998 55284998 C T SNP KIR2DL1 ENST00000336077 human ensembl 74_37 +1 known missense c.284 p.A95V 0.000 pfam_Immunoglobulin,smart_Ig_sub pfam_Immunoglobulin,smart_Ig_sub - no_errors KIR2DL1 HGNC ENSG00000125498 tier1 - - 288 0 0.00 131 57 30.32 PRSS38 0 genome.wustl.edu 37 1 228005164 228005164 + Missense_Mutation SNP G G T TCGA-X6-A8C6-01A-11D-A36J-09 TCGA-X6-A8C6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d08dfae-c1ce-467f-b80f-2ed6f269c01b b9a5db61-ec3f-4c18-8702-f4f3f32999e8 1 228005164 228005164 G T SNP PRSS38 ENST00000366757 human ensembl 74_37 +1 known missense c.566 p.G189V 0.986 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors PRSS38 HGNC ENSG00000185888 tier1 - - 69 0 0.00 28 4 12.12 ATXN8OS 0 genome.wustl.edu 37 13 70713512 70713512 + R SNP A A G TCGA-X6-A8C6-01A-11D-A36J-09 TCGA-X6-A8C6-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d08dfae-c1ce-467f-b80f-2ed6f269c01b b9a5db61-ec3f-4c18-8702-f4f3f32999e8 13 70713512 70713512 A G SNP ATXN8OS ENST00000414504 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ATXN8OS HGNC ENSG00000230223 tier1 rs2021426 - 55 0 0.00 23 4 14.81 BNIP3P1 0 genome.wustl.edu 37 14 28734006 28734006 + R SNP G G C TCGA-X6-A8C6-01A-11D-A36J-09 TCGA-X6-A8C6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d08dfae-c1ce-467f-b80f-2ed6f269c01b b9a5db61-ec3f-4c18-8702-f4f3f32999e8 14 28734006 28734006 G C SNP BNIP3P1 ENST00000550043 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors BNIP3P1 HGNC ENSG00000197358 tier1 - - 108 0 0.00 68 14 17.07 LIMK1 0 genome.wustl.edu 37 7 73535363 73535363 + Missense_Mutation SNP C C G TCGA-X6-A8C6-01A-11D-A36J-09 TCGA-X6-A8C6-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d08dfae-c1ce-467f-b80f-2ed6f269c01b b9a5db61-ec3f-4c18-8702-f4f3f32999e8 7 73535363 73535363 C G SNP LIMK1 ENST00000336180 human ensembl 74_37 +1 known missense c.1765 p.L589V 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Znf_LIM,pfam_PDZ,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,superfamily_PDZ,smart_Znf_LIM,smart_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_LIM,pfscan_PDZ,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors LIMK1 HGNC ENSG00000106683 tier1 - - 115 0 0.00 77 8 9.41 NCAPG 0 genome.wustl.edu 37 4 17839401 17839401 + Missense_Mutation SNP G G T TCGA-X6-A8C6-01A-11D-A36J-09 TCGA-X6-A8C6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d08dfae-c1ce-467f-b80f-2ed6f269c01b b9a5db61-ec3f-4c18-8702-f4f3f32999e8 4 17839401 17839401 G T SNP NCAPG ENST00000251496 human ensembl 74_37 +1 known missense c.2443 p.A815S 0.981 NULL superfamily_ARM-type_fold - no_errors NCAPG HGNC ENSG00000109805 tier1 - - 66 0 0.00 46 4 8.00 CAC1G 0 genome.wustl.edu 37 17 48647081 48647081 + Missense_Mutation SNP C C T TCGA-X6-A8C6-01A-11D-A36J-09 TCGA-X6-A8C6-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d08dfae-c1ce-467f-b80f-2ed6f269c01b b9a5db61-ec3f-4c18-8702-f4f3f32999e8 17 48647081 48647081 C T SNP CAC1G ENST00000359106 human ensembl 74_37 +1 known missense c.503 p.S168L 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1 - no_errors CAC1G HGNC ENSG00000006283 tier1 - - 80 0 0.00 42 5 10.64 PEX5L 0 genome.wustl.edu 37 3 179529607 179529607 + Missense_Mutation SNP G G C TCGA-X6-A8C6-01A-11D-A36J-09 TCGA-X6-A8C6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d08dfae-c1ce-467f-b80f-2ed6f269c01b b9a5db61-ec3f-4c18-8702-f4f3f32999e8 3 179529607 179529607 G C SNP PEX5L ENST00000467460 human ensembl 74_37 -1 known missense c.1136 p.A379G 1.000 smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors PEX5L HGNC ENSG00000114757 tier1 - - 103 0 0.00 67 7 9.46 ENSG00000222717 0 genome.wustl.edu 37 5 13174909 13174909 + R SNP T T A TCGA-X6-A8C6-01A-11D-A36J-09 TCGA-X6-A8C6-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d08dfae-c1ce-467f-b80f-2ed6f269c01b b9a5db61-ec3f-4c18-8702-f4f3f32999e8 5 13174909 13174909 T A SNP ENSG00000222717 ENST00000410785 human ensembl 74_37 -1 novel rna NULL NULL 0.132 - - - no_errors AC016553.1 Clone_based_ensembl_gene ENSG00000222717 tier1 - - 300 0 0.00 162 23 12.43 ANKDD1A 0 genome.wustl.edu 37 15 65239646 65239646 + Missense_Mutation SNP G G T TCGA-X6-A8C6-01A-11D-A36J-09 TCGA-X6-A8C6-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d08dfae-c1ce-467f-b80f-2ed6f269c01b b9a5db61-ec3f-4c18-8702-f4f3f32999e8 15 65239646 65239646 G T SNP ANKDD1A ENST00000380230 human ensembl 74_37 +1 known missense c.1184 p.G395V 0.002 superfamily_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,prints_Ankyrin_rpt - no_errors ANKDD1A HGNC ENSG00000166839 tier1 - - 55 0 0.00 30 4 11.76