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 ZNF257 0 genome.wustl.edu 37 19 22271887 22271887 + Nonsense_Mutation SNP C C A TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 19 22271887 22271887 C A SNP ZNF257 ENST00000594947 human ensembl 74_37 +1 known nonsense c.1335 p.Y445* 0.002 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 ZNF257 HGNC ENSG00000197134 tier1 - - 43 0 0.00 29 14 32.56 ENSG00000203849 0 genome.wustl.edu 37 1 142713030 142713030 + R SNP C C T TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 1 142713030 142713030 C T SNP ENSG00000203849 ENST00000369381 human ensembl 74_37 -1 known rna NULL NULL 0.024 - - - no_errors RP11-417J8.6 Clone_based_vega_gene ENSG00000203849 tier1 - - 69 0 0.00 29 3 9.38 R3HDM2 0 genome.wustl.edu 37 12 57648723 57648723 + Missense_Mutation SNP G G T TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 12 57648723 57648723 G T SNP R3HDM2 ENST00000347140 human ensembl 74_37 -1 known missense c.2764 p.R922S 1.000 NULL pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd - no_errors R3HDM2 HGNC ENSG00000179912 tier1 - - 52 0 0.00 28 4 12.50 ADAMTS20 0 genome.wustl.edu 37 12 43823442 43823442 + Missense_Mutation SNP C C A TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 12 43823442 43823442 C A SNP ADAMTS20 ENST00000389420 human ensembl 74_37 -1 known missense c.3467 p.W1156L 1.000 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS20 HGNC ENSG00000173157 tier1 - - 96 0 0.00 73 21 22.34 FAT3 0 genome.wustl.edu 37 11 92533566 92533566 + Missense_Mutation SNP C C A TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 11 92533566 92533566 C A SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known missense c.7387 p.P2463T 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 - - 33 0 0.00 11 6 35.29 PCDHB2 0 genome.wustl.edu 37 5 140474789 140474789 + Missense_Mutation SNP G G C TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 5 140474789 140474789 G C SNP PCDHB2 ENST00000194155 human ensembl 74_37 +1 known missense c.415 p.E139Q 0.003 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB2 HGNC ENSG00000112852 tier1 - - 54 0 0.00 25 14 35.90 MYH14 0 genome.wustl.edu 37 19 50766628 50766628 + Missense_Mutation SNP C C T TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 19 50766628 50766628 C T SNP MYH14 ENST00000262269 human ensembl 74_37 +1 known missense c.2645 p.A882V 0.987 superfamily_P-loop_NTPase pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH14 HGNC ENSG00000105357 tier1 rs202065396 - 52 0 0.00 40 17 29.82 KRTAP4-5 0 genome.wustl.edu 37 17 39305775 39305776 + In_Frame_Ins INS - - GGCAGCAGCTGGGGC TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 17 39305775 39305776 - GGCAGCAGCTGGGGC INS KRTAP4-5 ENST00000343246 human ensembl 74_37 -1 known in_frame_ins c.245_244 p.82in_frame_insRPSCC 0.148:0.743 NULL NULL - no_errors KRTAP4-5 HGNC ENSG00000198271 tier1 NKD2 0 genome.wustl.edu 37 5 1038587 1038588 + Frame_Shift_Ins INS - - CCCCCAC TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 5 1038587 1038588 - CCCCCAC INS NKD2 ENST00000382730 human ensembl 74_37 +1 known frame_shift_ins c.373_374 p.P129fs 0.051:0.001 NULL NULL - no_errors NKD2 HGNC ENSG00000145506 tier1 KIAA2018 0 genome.wustl.edu 37 3 113379809 113379809 + Silent SNP G G A TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 3 113379809 113379809 G A SNP KIAA2018 ENST00000316407 human ensembl 74_37 -1 known silent c.720 p.P240 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors KIAA2018 HGNC ENSG00000176542 tier1 - - 32 0 0.00 8 4 33.33 SIK2 0 genome.wustl.edu 37 11 111575769 111575769 + Missense_Mutation SNP G G A TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 11 111575769 111575769 G A SNP SIK2 ENST00000304987 human ensembl 74_37 +1 known missense c.1007 p.R336H 1.000 pirsf_Ser/Thr_kinase_SIK1/2 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kinase_SIK1/2,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors SIK2 HGNC ENSG00000170145 tier1 - - 40 0 0.00 15 3 16.67 OR11H4 0 genome.wustl.edu 37 14 20711361 20711361 + Silent SNP C C T TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 14 20711361 20711361 C T SNP OR11H4 ENST00000315409 human ensembl 74_37 +1 known silent c.411 p.C137 0.275 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR11H4 HGNC ENSG00000176198 tier1 - - 38 0 0.00 9 3 25.00 MUC16 0 genome.wustl.edu 37 19 9062319 9062319 + Missense_Mutation SNP G G T TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 19 9062319 9062319 G T SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.25127 p.P8376H 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 44 0 0.00 37 6 13.95 ITGA10 0 genome.wustl.edu 37 1 145542263 145542263 + Missense_Mutation SNP G G C TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 1 145542263 145542263 G C SNP ITGA10 ENST00000369304 human ensembl 74_37 +1 known missense c.3489 p.E1163D 1.000 NULL pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGA10 HGNC ENSG00000143127 tier1 - - 45 0 0.00 47 5 9.62 ARHGAP9 0 genome.wustl.edu 37 12 57872884 57872884 + Silent SNP G G T TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 12 57872884 57872884 G T SNP ARHGAP9 ENST00000356411 human ensembl 74_37 -1 known silent c.306 p.L102 0.813 NULL pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_WW_dom,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_WW_dom,pfscan_RhoGAP_dom - no_errors ARHGAP9 HGNC ENSG00000123329 tier1 - - 38 0 0.00 22 4 15.38 CXADRP3 0 genome.wustl.edu 37 18 14478196 14478196 + R SNP C C T TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 18 14478196 14478196 C T SNP CXADRP3 ENST00000581457 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors CXADRP3 HGNC ENSG00000265766 tier1 - - 50 0 0.00 21 41 66.13 RAPGEF2 0 genome.wustl.edu 37 4 160251516 160251516 + Missense_Mutation SNP G G T TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 4 160251516 160251516 G T SNP RAPGEF2 ENST00000264431 human ensembl 74_37 +1 known missense c.850 p.V284L 1.000 pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N pfam_RasGRF_CDC25,pfam_Ras-assoc,pfam_Ras-like_Gua-exchang_fac_N,pfam_PDZ,pfam_cNMP-bd_dom,superfamily_Ras_GEF_dom,superfamily_PDZ,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ras-like_Gua-exchang_fac_N,smart_PDZ,smart_Ras-assoc,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_PDZ,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RAPGEF2 HGNC ENSG00000109756 tier1 - - 37 0 0.00 12 3 20.00 STARD3 0 genome.wustl.edu 37 17 37818563 37818563 + Missense_Mutation SNP G G T TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 17 37818563 37818563 G T SNP STARD3 ENST00000336308 human ensembl 74_37 +1 known missense c.1199 p.C400F 1.000 pfam_START_lipid-bd_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom pfam_MENTAL,pfam_START_lipid-bd_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,prints_StAR - no_errors STARD3 HGNC ENSG00000131748 tier1 - - 60 0 0.00 40 4 9.09 MYOM2 0 genome.wustl.edu 37 8 2037929 2037929 + Silent SNP T T C TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 8 2037929 2037929 T C SNP MYOM2 ENST00000262113 human ensembl 74_37 +1 known silent c.1743 p.Y581 0.551 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYOM2 HGNC ENSG00000036448 tier1 - - 58 0 0.00 10 14 58.33 PRR22 0 genome.wustl.edu 37 19 5783472 5783472 + Silent SNP G G A TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 19 5783472 5783472 G A SNP PRR22 ENST00000419421 human ensembl 74_37 -1 known silent c.786 p.A262 0.000 NULL NULL - no_errors PRR22 HGNC ENSG00000212123 tier1 - - 25 0 0.00 14 7 33.33 EPHB4 0 genome.wustl.edu 37 7 100410739 100410739 + Missense_Mutation SNP C C A TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 7 100410739 100410739 C A SNP EPHB4 ENST00000358173 human ensembl 74_37 -1 known missense c.1848 p.K616N 1.000 pirsf_Tyr_kinase_ephrin_rcpt,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 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_Kinase-like_dom,superfamily_Galactose-bd-like,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 EPHB4 HGNC ENSG00000196411 tier1 - - 28 0 0.00 40 4 8.89 PEPD 0 genome.wustl.edu 37 19 33877912 33877913 + R INS - - AAAGT TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 19 33877912 33877913 - AAAGT INS PEPD ENST00000589598 human ensembl 74_37 -1 known rna NULL NULL 0.016:0.087 - - - no_errors PEPD HGNC ENSG00000124299 tier1 ALX4 0 genome.wustl.edu 37 11 44289129 44289129 + Missense_Mutation SNP C C T TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 11 44289129 44289129 C T SNP ALX4 ENST00000329255 human ensembl 74_37 -1 known missense c.821 p.R274H 1.000 superfamily_Homeodomain-like,smart_Homeobox_dom pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_OAR_dom,pfscan_Homeobox_dom - no_errors ALX4 HGNC ENSG00000052850 tier1 - - 60 0 0.00 9 59 86.76 TUBAL3 0 genome.wustl.edu 37 10 5435603 5435603 + Silent SNP G G A TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 10 5435603 5435603 G A SNP TUBAL3 ENST00000380419 human ensembl 74_37 -1 known silent c.1218 p.Y406 0.975 superfamily_Tub_FtsZ_C,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin - no_errors TUBAL3 HGNC ENSG00000178462 tier1 - - 34 0 0.00 16 5 23.81 ENSG00000224516 0 genome.wustl.edu 37 2 233244409 233244409 + R SNP C C T TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 2 233244409 233244409 C T SNP ENSG00000224516 ENST00000441266 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AC068134.8 Clone_based_vega_gene ENSG00000224516 tier1 - - 26 0 0.00 2 44 95.65 ZNF419 0 genome.wustl.edu 37 19 58005000 58005000 + Missense_Mutation SNP A A G TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 19 58005000 58005000 A G SNP ZNF419 ENST00000424930 human ensembl 74_37 +1 known missense c.1078 p.I360V 0.002 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 ZNF419 HGNC ENSG00000105136 tier1 - - 122 0 0.00 7 31 81.58 CFTR 0 genome.wustl.edu 37 7 117149156 117149156 + Missense_Mutation SNP T T C TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 7 117149156 117149156 T C SNP CFTR ENST00000003084 human ensembl 74_37 +1 known missense c.233 p.F78S 1.000 superfamily_ABC1_TM_dom,tigrfam_cAMP_cl_channel pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_CysFib_conduc_TM,tigrfam_cAMP_cl_channel - no_errors CFTR HGNC ENSG00000001626 tier1 - - 69 0 0.00 89 15 14.42 PMS2 0 genome.wustl.edu 37 7 6029584 6029584 + Missense_Mutation SNP A A T TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 7 6029584 6029584 A T SNP PMS2 ENST00000265849 human ensembl 74_37 -1 known missense c.991 p.C331S 1.000 pfam_D_mismatch_repair_C,superfamily_Ribosomal_S5_D2-typ_fold,tigrfam_D_mismatch_repair_N pfam_MutL_C,pfam_D_mismatch_repair_C,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_MutL_C,tigrfam_D_mismatch_repair_N - no_errors PMS2 HGNC ENSG00000122512 tier1 - - 186 0 0.00 159 25 13.59 LRRC41 0 genome.wustl.edu 37 1 46763171 46763171 + R SNP G G T TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 1 46763171 46763171 G T SNP LRRC41 ENST00000469150 human ensembl 74_37 -1 known rna NULL NULL 0.038 - - - no_errors LRRC41 HGNC ENSG00000132128 tier1 - - 38 0 0.00 12 3 20.00 ARHGAP22 0 genome.wustl.edu 37 10 49654494 49654494 + Missense_Mutation SNP C C G TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 10 49654494 49654494 C G SNP ARHGAP22 ENST00000417912 human ensembl 74_37 -1 known missense c.2085 p.E695D 0.997 NULL pfam_RhoGAP_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP22 HGNC ENSG00000128805 tier1 - - 70 0 0.00 19 7 26.92 DLK1 0 genome.wustl.edu 37 14 101200664 101200664 + Missense_Mutation SNP C C T TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 14 101200664 101200664 C T SNP DLK1 ENST00000341267 human ensembl 74_37 +1 known missense c.583 p.R195W 0.986 pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors DLK1 HGNC ENSG00000185559 tier1 - - 36 0 0.00 11 17 60.71 YAF2 0 genome.wustl.edu 37 12 42555465 42555465 + Silent SNP T T C TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 12 42555465 42555465 T C SNP YAF2 ENST00000442791 human ensembl 74_37 -1 known silent c.327 p.E109 1.000 NULL pfam_Znf_RanBP2,smart_Znf_RanBP2,pfscan_Znf_RanBP2 - no_errors YAF2 HGNC ENSG00000015153 tier1 - - 79 0 0.00 67 11 14.10 XIST 0 genome.wustl.edu 37 X 73042432 73042432 + R DEL T T - TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e X 73042432 73042432 T - DEL XIST ENST00000429829 human ensembl 74_37 -1 known rna NULL NULL 0.009 - - - no_errors XIST HGNC ENSG00000229807 tier1 27 0 0.00 29 3 9.38 ACACA 0 genome.wustl.edu 37 17 35615186 35615186 + Missense_Mutation SNP C C A TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 17 35615186 35615186 C A SNP ACACA ENST00000353139 human ensembl 74_37 -1 known missense c.1610 p.C537F 1.000 pfscan_Biotin_carboxylation_dom pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_carboxylate-amine,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl - no_errors ACACA HGNC ENSG00000132142 tier1 - - 112 0 0.00 10 55 84.62 FAM181A 0 genome.wustl.edu 37 14 94394800 94394800 + Missense_Mutation SNP C C T TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 14 94394800 94394800 C T SNP FAM181A ENST00000267594 human ensembl 74_37 +1 known missense c.355 p.R119W 0.733 NULL NULL - no_errors FAM181A HGNC ENSG00000140067 tier1 rs142299390 - 80 0 0.00 30 16 34.78 ZC3H11A 0 genome.wustl.edu 37 1 203809457 203809457 + Nonsense_Mutation SNP G G T TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 1 203809457 203809457 G T SNP ZC3H11A ENST00000332127 human ensembl 74_37 +1 known nonsense c.997 p.E333* 1.000 NULL smart_Znf_CCCH - no_errors ZC3H11A HGNC ENSG00000058673 tier1 - - 48 0 0.00 23 4 14.81 OR10G2 0 genome.wustl.edu 37 14 22102287 22102287 + Missense_Mutation SNP C C A TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 14 22102287 22102287 C A SNP OR10G2 ENST00000542433 human ensembl 74_37 -1 known missense c.712 p.G238W 0.997 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10G2 HGNC ENSG00000255582 tier1 - - 62 0 0.00 44 10 18.52 C19orf40 0 genome.wustl.edu 37 19 33464449 33464449 + Missense_Mutation SNP G G A TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 19 33464449 33464449 G A SNP C19orf40 ENST00000588258 human ensembl 74_37 +1 known missense c.224 p.R75K 1.000 NULL superfamily_RuvA_2-like - no_errors C19orf40 HGNC ENSG00000131944 tier1 - - 22 0 0.00 21 8 27.59 FAM230C 0 genome.wustl.edu 37 22 21663350 21663350 + R SNP G G A TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 22 21663350 21663350 G A SNP FAM230C ENST00000436681 human ensembl 74_37 -1 known rna NULL NULL 0.255 - - - no_errors KB-1183D5.13 Clone_based_vega_gene ENSG00000206142 tier1 - - 29 0 0.00 30 5 14.29 SFTA3 0 genome.wustl.edu 37 14 36982394 36982394 + R SNP G G C TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 14 36982394 36982394 G C SNP SFTA3 ENST00000518987 human ensembl 74_37 -1 known rna NULL NULL 0.173 - - - no_errors SFTA3 HGNC ENSG00000229415 tier1 - - 52 0 0.00 23 5 17.86 CASR 0 genome.wustl.edu 37 3 122002947 122002947 + Missense_Mutation SNP C C T TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 3 122002947 122002947 C T SNP CASR ENST00000498619 human ensembl 74_37 +1 known missense c.2176 p.R726C 1.000 pfam_GPCR_3_C,pfscan_GPCR_3_C pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,superfamily_Growth_fac_rcpt_N_dom,pfscan_GPCR_3_C,prints_GPCR_3 - no_errors CASR HGNC ENSG00000036828 tier1 - - 17 0 0.00 12 5 29.41 ATRX 0 genome.wustl.edu 37 X 76939398 76939419 + Frame_Shift_Del DEL ACAAGGTTTTTCTCCTTTTCGT ACAAGGTTTTTCTCCTTTTCGT - TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 ACAAGGTTTTTCTCCTTTTCGT ACAAGGTTTTTCTCCTTTTCGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e X 76939398 76939419 ACAAGGTTTTTCTCCTTTTCGT - DEL ATRX ENST00000373344 human ensembl 74_37 -1 known frame_shift_del c.1350_1329 p.R444fs 0.000:0.000:0.000:0.000:0.000:0.005:0.711:0.853:0.965:0.963:0.984:0.989:0.985:0.987:1.000:0.999:0.997:0.900:0.041:0.004:0.000:0.001 NULL pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ATRX HGNC ENSG00000085224 tier1 TTC34 0 genome.wustl.edu 37 1 2576903 2576903 + Missense_Mutation SNP G G C TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 1 2576903 2576903 G C SNP TTC34 ENST00000401095 human ensembl 74_37 -1 known missense c.787 p.Q263E 0.327 NULL smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC34 HGNC ENSG00000215912 tier1 - - 27 0 0.00 15 4 21.05 TP53 0 genome.wustl.edu 37 17 7578431 7578431 + Nonsense_Mutation SNP G G A TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 17 7578431 7578431 G A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known nonsense c.499 p.Q167* 0.998 pfam_p53_D-bd,superfamily_p53-like_TF_D-bd,prints_p53_tumour_suppressor pfam_p53_D-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_D-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 - - 31 0 0.00 1 9 90.00 SLIT3 0 genome.wustl.edu 37 5 168149295 168149295 + Missense_Mutation SNP G G T TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 5 168149295 168149295 G T SNP SLIT3 ENST00000519560 human ensembl 74_37 -1 known missense c.2449 p.H817N 0.997 smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_typical-subtyp pfam_EG-like_dom,pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT3 HGNC ENSG00000184347 tier1 - - 65 0 0.00 27 6 18.18 ZBTB18 0 genome.wustl.edu 37 1 244217791 244217791 + Missense_Mutation SNP G G T TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 1 244217791 244217791 G T SNP ZBTB18 ENST00000358704 human ensembl 74_37 +1 known missense c.715 p.V239L 1.000 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB18 HGNC ENSG00000179456 tier1 - - 19 0 0.00 4 11 73.33 LRBA 0 genome.wustl.edu 37 4 151392869 151392869 + Missense_Mutation SNP G G A TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 4 151392869 151392869 G A SNP LRBA ENST00000357115 human ensembl 74_37 -1 known missense c.6607 p.R2203C 0.998 superfamily_BEACH_dom,pfscan_BEACH_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 - no_errors LRBA HGNC ENSG00000198589 tier1 rs200164280 - 58 0 0.00 5 26 83.87 NPAP1 0 genome.wustl.edu 37 15 24921350 24921350 + Missense_Mutation SNP T T A TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 15 24921350 24921350 T A SNP NPAP1 ENST00000329468 human ensembl 74_37 +1 known missense c.336 p.S112R 0.000 NULL NULL - no_errors NPAP1 HGNC ENSG00000185823 tier1 - - 52 0 0.00 36 5 12.20 TLE3 0 genome.wustl.edu 37 15 70347560 70347560 + Missense_Mutation SNP C C T TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 15 70347560 70347560 C T SNP TLE3 ENST00000558939 human ensembl 74_37 -1 known missense c.1415 p.G472D 1.000 superfamily_WD40_repeat_dom pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance - no_errors TLE3 HGNC ENSG00000140332 tier1 - - 33 0 0.00 38 4 9.52 SULT1A1 0 genome.wustl.edu 37 16 28618098 28618098 + Missense_Mutation SNP T T C TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 16 28618098 28618098 T C SNP SULT1A1 ENST00000314752 human ensembl 74_37 -1 known missense c.578 p.Y193C 0.999 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors SULT1A1 HGNC ENSG00000196502 tier1 - - 36 0 0.00 21 26 55.32 RALGAPA2 0 genome.wustl.edu 37 20 20620468 20620468 + Nonsense_Mutation SNP G G T TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 20 20620468 20620468 G T SNP RALGAPA2 ENST00000202677 human ensembl 74_37 -1 known nonsense c.627 p.C209* 1.000 NULL pfam_Rap_GAP_dom,superfamily_ARM-type_fold,pfscan_Rap_GAP_dom - no_errors RALGAPA2 HGNC ENSG00000188559 tier1 - - 111 0 0.00 54 42 43.75 SLAMF1 0 genome.wustl.edu 37 1 160604456 160604456 + Missense_Mutation SNP C C A TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 1 160604456 160604456 C A SNP SLAMF1 ENST00000302035 human ensembl 74_37 -1 known missense c.647 p.S216I 0.998 pfscan_Ig-like_dom pfam_Sig_lymph_act_molc_N,pfscan_Ig-like_dom - no_errors SLAMF1 HGNC ENSG00000117090 tier1 - - 34 0 0.00 28 11 28.21 EIF4G3 0 genome.wustl.edu 37 1 21276516 21276516 + Missense_Mutation SNP G G A TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 1 21276516 21276516 G A SNP EIF4G3 ENST00000374937 human ensembl 74_37 -1 known missense c.653 p.A218V 1.000 NULL pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain - no_errors EIF4G3 HGNC ENSG00000075151 tier1 - - 27 0 0.00 10 3 23.08 PAXBP1 0 genome.wustl.edu 37 21 34109575 34109575 + Nonsense_Mutation SNP T T A TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 21 34109575 34109575 T A SNP PAXBP1 ENST00000331923 human ensembl 74_37 -1 known nonsense c.2626 p.R876* 1.000 NULL pfam_GCFC_dom - no_errors PAXBP1 HGNC ENSG00000159086 tier1 - - 162 0 0.00 92 11 10.68 IL10RA 0 genome.wustl.edu 37 11 117864852 117864852 + Missense_Mutation SNP C C A TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 11 117864852 117864852 C A SNP IL10RA ENST00000227752 human ensembl 74_37 +1 known missense c.676 p.L226I 0.000 superfamily_Fibronectin_type3 superfamily_Fibronectin_type3 - no_errors IL10RA HGNC ENSG00000110324 tier1 - - 46 0 0.00 36 4 10.00 FBP2 0 genome.wustl.edu 37 9 97321346 97321346 + Silent SNP C C T TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 9 97321346 97321346 C T SNP FBP2 ENST00000375337 human ensembl 74_37 -1 known silent c.894 p.T298 0.993 pfam_FBPase_class-1/SBPase pfam_FBPase_class-1/SBPase,pfam_Inositol_monophosphatase,prints_FBPtase,prints_SBPase - no_errors FBP2 HGNC ENSG00000130957 tier1 - - 20 0 0.00 21 13 38.24 MT-TY 0 genome.wustl.edu 37 MT 5877 5877 + R SNP C C A TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e MT 5877 5877 C A SNP MT-TY ENST00000387409 human ensembl 74_37 -1 known rna NULL NULL NULL - - - no_errors MT-TY HGNC ENSG00000210144 tier1 - - 85 0 0.00 20 2 9.09 YTHDC2 0 genome.wustl.edu 37 5 112920136 112920136 + Missense_Mutation SNP C C A TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 5 112920136 112920136 C A SNP YTHDC2 ENST00000161863 human ensembl 74_37 +1 known missense c.3785 p.P1262Q 1.000 NULL pfam_YTH_domain,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_D/R_helicase_DEAD/DEAH_N,pfam_DUF1605,pfam_R3H_ss-bd,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_R3H_ss-bd,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_R3H_ss-bd,pfscan_YTH_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors YTHDC2 HGNC ENSG00000047188 tier1 - - 105 0 0.00 43 4 8.51 CNOT10 0 genome.wustl.edu 37 3 32805973 32805973 + Missense_Mutation SNP A A G TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 3 32805973 32805973 A G SNP CNOT10 ENST00000454516 human ensembl 74_37 +1 known missense c.2047 p.M683V 1.000 NULL pfam_TPR_1,smart_TPR_repeat - no_errors CNOT10 HGNC ENSG00000182973 tier1 - - 118 0 0.00 4 89 95.70 NPHP3-AS1 0 genome.wustl.edu 37 3 132440707 132440707 + R SNP C C T TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 3 132440707 132440707 C T SNP NPHP3-AS1 ENST00000489343 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors NPHP3-AS1 HGNC ENSG00000248724 tier1 - - 121 0 0.00 43 22 33.85 CPSF4L 0 genome.wustl.edu 37 17 71247236 71247236 + Missense_Mutation SNP G G T TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 17 71247236 71247236 G T SNP CPSF4L ENST00000397671 human ensembl 74_37 -1 known missense c.319 p.P107T 0.001 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors CPSF4L HGNC ENSG00000187959 tier1 - - 27 0 0.00 29 4 12.12 ABCC12 0 genome.wustl.edu 37 16 48145504 48145504 + Missense_Mutation SNP C C A TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 16 48145504 48145504 C A SNP ABCC12 ENST00000311303 human ensembl 74_37 -1 known missense c.2194 p.D732Y 0.013 NULL pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC12 HGNC ENSG00000140798 tier1 - - 62 0 0.00 14 13 48.15 LY9 0 genome.wustl.edu 37 1 160784371 160784371 + Missense_Mutation SNP A A T TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 1 160784371 160784371 A T SNP LY9 ENST00000263285 human ensembl 74_37 +1 known missense c.892 p.T298S 0.072 smart_Ig_sub smart_Ig_sub,pfscan_Ig-like_dom - no_errors LY9 HGNC ENSG00000122224 tier1 - - 55 0 0.00 43 4 8.51 OR8S1 0 genome.wustl.edu 37 12 48920302 48920302 + Silent SNP G G A TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 12 48920302 48920302 G A SNP OR8S1 ENST00000310194 human ensembl 74_37 +1 known silent c.888 p.K296 0.600 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8S1 HGNC ENSG00000197376 tier1 - - 60 0 0.00 32 15 31.91 KCNQ5 0 genome.wustl.edu 37 6 73843173 73843173 + Missense_Mutation SNP G G A TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 6 73843173 73843173 G A SNP KCNQ5 ENST00000402622 human ensembl 74_37 +1 known missense c.1307 p.R436H 1.000 NULL pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ5 HGNC ENSG00000185760 tier1 - - 16 0 0.00 14 6 30.00 MYH13 0 genome.wustl.edu 37 17 10225010 10225010 + Nonsense_Mutation SNP C C A TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 17 10225010 10225010 C A SNP MYH13 ENST00000252172 human ensembl 74_37 -1 known nonsense c.2950 p.E984* 1.000 NULL pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH13 HGNC ENSG00000006788 tier1 - - 72 0 0.00 43 4 8.51 TSRE1 0 genome.wustl.edu 37 8 143395764 143395764 + Missense_Mutation SNP G G A TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 8 143395764 143395764 G A SNP TSRE1 ENST00000307180 human ensembl 74_37 -1 known missense c.1112 p.A371V 0.009 superfamily_t-SRE pfam_T_SRE_dom,superfamily_t-SRE,smart_Syntaxin_N,smart_T_SRE_dom,pfscan_T_SRE_dom - no_errors TSRE1 HGNC ENSG00000171045 tier1 - - 63 0 0.00 21 11 34.38 MRGPRX1 0 genome.wustl.edu 37 11 18956293 18956293 + Silent SNP T T G TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 11 18956293 18956293 T G SNP MRGPRX1 ENST00000302797 human ensembl 74_37 -1 known silent c.39 p.T13 0.001 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors MRGPRX1 HGNC ENSG00000170255 tier1 - - 76 0 0.00 67 8 10.67 CENPM 0 genome.wustl.edu 37 22 42335197 42335197 + Missense_Mutation SNP C C T TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 22 42335197 42335197 C T SNP CENPM ENST00000215980 human ensembl 74_37 -1 known missense c.406 p.E136K 0.473 pfam_Centromere_Cenp-M pfam_Centromere_Cenp-M - no_errors CENPM HGNC ENSG00000100162 tier1 - - 21 0 0.00 6 3 33.33 ZNF544 0 genome.wustl.edu 37 19 58772852 58772852 + Missense_Mutation SNP G G T TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 19 58772852 58772852 G T SNP ZNF544 ENST00000269829 human ensembl 74_37 +1 known missense c.880 p.G294W 0.048 NULL 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 ZNF544 HGNC ENSG00000198131 tier1 - - 52 0 0.00 20 3 13.04 GPR87 0 genome.wustl.edu 37 3 151011993 151011993 + Silent SNP C C T TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 3 151011993 151011993 C T SNP GPR87 ENST00000260843 human ensembl 74_37 -1 known silent c.1041 p.S347 0.001 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_P2Y13_rcpt,prints_P2Y14_rcpt - no_errors GPR87 HGNC ENSG00000138271 tier1 - - 46 0 0.00 9 28 75.68 PAFAH2 0 genome.wustl.edu 37 1 26303191 26303191 + Missense_Mutation SNP G G A TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 1 26303191 26303191 G A SNP PAFAH2 ENST00000374282 human ensembl 74_37 -1 known missense c.740 p.A247V 0.999 pfam_PAF_acetylhydro,pfam_Peptidase_S9,pirsf_PAF_acetylhydro_eukaryote pfam_PAF_acetylhydro,pfam_Peptidase_S9,pirsf_PAF_acetylhydro_eukaryote - no_errors PAFAH2 HGNC ENSG00000158006 tier1 - - 61 0 0.00 26 4 13.33 ASIC4 0 genome.wustl.edu 37 2 220379808 220379808 + Missense_Mutation SNP A A G TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 2 220379808 220379808 A G SNP ASIC4 ENST00000347842 human ensembl 74_37 +1 known missense c.743 p.N248S 1.000 pfam_Na+channel_ASC,prints_Na+channel_ASC pfam_Na+channel_ASC,prints_Na+channel_ASC - no_errors ASIC4 HGNC ENSG00000072182 tier1 - - 26 0 0.00 22 6 21.43 PTPRG 0 genome.wustl.edu 37 3 61975440 61975440 + Missense_Mutation SNP C C T TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 3 61975440 61975440 C T SNP PTPRG ENST00000474889 human ensembl 74_37 +1 known missense c.332 p.S111F 1.000 pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRG HGNC ENSG00000144724 tier1 - - 84 0 0.00 45 14 23.73 NPHS1 0 genome.wustl.edu 37 19 36340496 36340496 + Missense_Mutation SNP G G T TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 19 36340496 36340496 G T SNP NPHS1 ENST00000378910 human ensembl 74_37 -1 known missense c.668 p.A223E 0.990 pfam_CD80_C2-set pfam_CD80_C2-set,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors NPHS1 HGNC ENSG00000161270 tier1 - - 17 0 0.00 11 21 65.62 SGCD 0 genome.wustl.edu 37 5 155771523 155771523 + Missense_Mutation SNP C C A TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 5 155771523 155771523 C A SNP SGCD ENST00000337851 human ensembl 74_37 +1 known missense c.28 p.H10N 1.000 NULL pfam_Sarcoglycan - no_errors SGCD HGNC ENSG00000170624 tier1 - - 59 0 0.00 19 3 13.64 LOC100652824 0 genome.wustl.edu 37 2 202970606 202970606 + Missense_Mutation SNP G G T TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 2 202970606 202970606 G T SNP LOC100652824 ENST00000541917 human ensembl 74_37 +1 known missense c.1447 p.A483S 0.017 NULL NULL - no_errors AC079354.1 Clone_based_vega_gene ENSG00000182329 tier1 - - 48 0 0.00 40 4 9.09 CROCCP3 0 genome.wustl.edu 37 1 16810805 16810822 + R DEL GGCCTCGGCGGGGTGAAC GGCCTCGGCGGGGTGAAC - TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 GGCCTCGGCGGGGTGAAC GGCCTCGGCGGGGTGAAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 1 16810805 16810822 GGCCTCGGCGGGGTGAAC - DEL CROCCP3 ENST00000263511 human ensembl 74_37 -1 known rna NULL NULL 0.994:0.998:0.998:0.998:0.998:1.000:1.000:1.000:1.000:0.996:0.986:0.999:1.000:0.996:1.000:1.000:1.000:1.000 - - - no_errors CROCCP3 HGNC ENSG00000080947 tier1 F11R 0 genome.wustl.edu 37 1 160969677 160969677 + Missense_Mutation SNP C C A TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 1 160969677 160969677 C A SNP F11R ENST00000368026 human ensembl 74_37 -1 known missense c.683 p.R228L 0.054 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors F11R HGNC ENSG00000158769 tier1 - - 48 0 0.00 35 4 9.76 RNF4 0 genome.wustl.edu 37 4 2513722 2513722 + Missense_Mutation SNP G G C TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 4 2513722 2513722 G C SNP RNF4 ENST00000509258 human ensembl 74_37 +1 novel missense c.244 p.V82L 0.066 NULL NULL - no_errors RNF4 HGNC ENSG00000063978 tier1 - - 36 0 0.00 37 4 9.76 HSPG2 0 genome.wustl.edu 37 1 22206638 22206638 + Missense_Mutation SNP G G T TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 1 22206638 22206638 G T SNP HSPG2 ENST00000374695 human ensembl 74_37 -1 known missense c.2305 p.H769N 1.000 pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA_dom,pfscan_Ig-like_dom,prints_LDrepeatLR_classA_rpt - no_errors HSPG2 HGNC ENSG00000142798 tier1 - - 28 0 0.00 5 8 61.54 DF5 0 genome.wustl.edu 37 7 24742447 24742447 + Missense_Mutation SNP G G T TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 7 24742447 24742447 G T SNP DF5 ENST00000342947 human ensembl 74_37 -1 known missense c.1189 p.P397T 1.000 pfam_Gasdermin pfam_Gasdermin - no_errors DF5 HGNC ENSG00000105928 tier1 - - 30 0 0.00 37 4 9.76 FSIP1 0 genome.wustl.edu 37 15 39910030 39910030 + Silent SNP G G T TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 15 39910030 39910030 G T SNP FSIP1 ENST00000350221 human ensembl 74_37 -1 known silent c.1605 p.P535 0.994 NULL NULL - no_errors FSIP1 HGNC ENSG00000150667 tier1 - - 67 0 0.00 26 3 10.34 WDR16 0 genome.wustl.edu 37 17 9541928 9541928 + Missense_Mutation SNP G G A TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 17 9541928 9541928 G A SNP WDR16 ENST00000299764 human ensembl 74_37 +1 known missense c.1505 p.R502H 0.999 superfamily_WD40_repeat_dom,smart_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 WDR16 HGNC ENSG00000166596 tier1 - - 54 0 0.00 12 10 45.45 TM6SF2 0 genome.wustl.edu 37 19 19378468 19378468 + Missense_Mutation SNP G G T TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 19 19378468 19378468 G T SNP TM6SF2 ENST00000389363 human ensembl 74_37 -1 known missense c.766 p.P256T 1.000 pfam_Transmembrane_6/97 pfam_Transmembrane_6/97 - no_errors TM6SF2 HGNC ENSG00000213996 tier1 - - 33 0 0.00 24 4 14.29 FAM168A 0 genome.wustl.edu 37 11 73122448 73122448 + Silent SNP C C T TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 11 73122448 73122448 C T SNP FAM168A ENST00000064778 human ensembl 74_37 -1 known silent c.438 p.L146 1.000 NULL NULL - no_errors FAM168A HGNC ENSG00000054965 tier1 - - 29 0 0.00 24 4 14.29 IRAK3 0 genome.wustl.edu 37 12 66603234 66603234 + Splice_Site SNP A A T TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 12 66603234 66603234 A T SNP IRAK3 ENST00000261233 human ensembl 74_37 +1 known splice_site c.317-2 e3-2 1.000 - - - no_errors IRAK3 HGNC ENSG00000090376 tier1 - - 73 0 0.00 39 4 9.30 ARHGEF11 0 genome.wustl.edu 37 1 156904654 156904654 + R DEL A A - TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 1 156904654 156904654 A - DEL ARHGEF11 ENST00000487682 human ensembl 74_37 -1 known rna NULL NULL 0.863 - - - no_errors ARHGEF11 HGNC ENSG00000132694 tier1 31 0 0.00 28 4 12.50 CSMD3 0 genome.wustl.edu 37 8 113323343 113323343 + Missense_Mutation SNP C C A TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 8 113323343 113323343 C A SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.7749 p.Q2583H 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 tier1 - - 58 0 0.00 32 11 25.58 ZNF234 0 genome.wustl.edu 37 19 44661134 44661137 + Frame_Shift_Del DEL GTAA GTAA - TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 GTAA GTAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 19 44661134 44661137 GTAA - DEL ZNF234 ENST00000426739 human ensembl 74_37 +1 known frame_shift_del c.965_968 p.K323fs 1.000:0.976:0.987:0.973 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 ZNF234 HGNC ENSG00000263002 tier1 57 0 0.00 33 7 17.50 ART1 0 genome.wustl.edu 37 11 3685362 3685362 + Silent SNP G G T TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 11 3685362 3685362 G T SNP ART1 ENST00000250693 human ensembl 74_37 +1 known silent c.927 p.L309 0.613 NULL pfam_ART,prints_ART - no_errors ART1 HGNC ENSG00000129744 tier1 - - 19 0 0.00 13 3 18.75 OR4K1 0 genome.wustl.edu 37 14 20404427 20404427 + Missense_Mutation SNP C C T TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 14 20404427 20404427 C T SNP OR4K1 ENST00000285600 human ensembl 74_37 +1 known missense c.602 p.T201M 0.025 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 OR4K1 HGNC ENSG00000155249 tier1 rs200761942 - 155 0 0.00 108 12 10.00 SRRM4 0 genome.wustl.edu 37 12 119568494 119568494 + Missense_Mutation SNP G G A TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 12 119568494 119568494 G A SNP SRRM4 ENST00000267260 human ensembl 74_37 +1 known missense c.626 p.R209Q 1.000 NULL NULL - no_errors SRRM4 HGNC ENSG00000139767 tier1 rs114691929 GMAF=0.0005 19 0 0.00 13 5 27.78 TFAP2D 0 genome.wustl.edu 37 6 50682937 50682937 + Missense_Mutation SNP A A G TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 6 50682937 50682937 A G SNP TFAP2D ENST00000008391 human ensembl 74_37 +1 known missense c.148 p.T50A 0.999 NULL pfam_TF_AP2_C,prints_TF_AP2_C - no_errors TFAP2D HGNC ENSG00000008197 tier1 - - 36 0 0.00 29 13 30.95 MUC16 0 genome.wustl.edu 37 19 9033271 9033271 + Silent SNP G G A TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 19 9033271 9033271 G A SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known silent c.36355 p.L12119 0.000 pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 26 0 0.00 15 4 21.05 ARMC5 0 genome.wustl.edu 37 16 31476247 31476247 + Nonsense_Mutation SNP G G T TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 16 31476247 31476247 G T SNP ARMC5 ENST00000457010 human ensembl 74_37 +1 known nonsense c.1903 p.E635* 0.000 NULL superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors ARMC5 HGNC ENSG00000140691 tier1 - - 42 0 0.00 19 4 17.39 MAP1B 0 genome.wustl.edu 37 5 71490469 71490469 + Missense_Mutation SNP G G T TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 5 71490469 71490469 G T SNP MAP1B ENST00000296755 human ensembl 74_37 +1 known missense c.1287 p.K429N 1.000 NULL pfam_MAP1B_neuraxin - no_errors MAP1B HGNC ENSG00000131711 tier1 - - 66 0 0.00 29 5 14.71 RAD54L 0 genome.wustl.edu 37 1 46743599 46743599 + Missense_Mutation SNP G G T TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 1 46743599 46743599 G T SNP RAD54L ENST00000371975 human ensembl 74_37 +1 known missense c.1980 p.E660D 0.932 superfamily_P-loop_NTPase pfam_SNF2_N,pfam_Helicase_C,pfam_D/R_helicase_DEAD/DEAH_N,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,pfam_Rad54_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors RAD54L HGNC ENSG00000085999 tier1 - - 27 0 0.00 16 3 15.79 ENSG00000184774 0 genome.wustl.edu 37 1 202794689 202794689 + Frame_Shift_Del DEL T T - TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 1 202794689 202794689 T - DEL ENSG00000184774 ENST00000330493 human ensembl 74_37 +1 known frame_shift_del c.55 p.F20fs 0.000 pfam_Glyco_transf_54 pfam_Glyco_transf_54 - no_errors RP11-480I12.4 Clone_based_vega_gene ENSG00000184774 tier1 31 0 0.00 18 2 10.00 ANKLE2 0 genome.wustl.edu 37 12 133324460 133324460 + Silent SNP G G T TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 12 133324460 133324460 G T SNP ANKLE2 ENST00000357997 human ensembl 74_37 -1 known silent c.1188 p.I396 0.026 superfamily_Ankyrin_rpt-contain_dom pfam_LEM_dom,superfamily_LEM/LEM-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Ribosomal_L9/RNase_H1_N,pfscan_LEM_dom - no_errors ANKLE2 HGNC ENSG00000176915 tier1 - - 63 0 0.00 36 4 10.00 VPS45 0 genome.wustl.edu 37 1 150082514 150082514 + R DEL A A - TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 1 150082514 150082514 A - DEL VPS45 ENST00000484306 human ensembl 74_37 +1 known rna NULL NULL 0.965 - - - no_errors VPS45 HGNC ENSG00000136631 tier1 54 0 0.00 41 6 12.77 TPRXL 0 genome.wustl.edu 37 3 14106367 14106367 + Missense_Mutation SNP T T A TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 3 14106367 14106367 T A SNP TPRXL ENST00000326972 human ensembl 74_37 +1 known missense c.691 p.C231S 0.007 NULL NULL - no_errors TPRXL HGNC ENSG00000180438 tier1 - - 26 0 0.00 26 4 13.33 MT2A 0 genome.wustl.edu 37 16 56643194 56643194 + Silent SNP T T C TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 16 56643194 56643194 T C SNP MT2A ENST00000245185 human ensembl 74_37 +1 known silent c.114 p.P38 0.574 pfam_Metalthion_sfam_euk,superfamily_Metalthion_dom,prints_Metalthion_vert pfam_Metalthion_sfam_euk,superfamily_Metalthion_dom,prints_Metalthion_vert - no_errors MT2A HGNC ENSG00000125148 tier1 - - 30 0 0.00 7 3 27.27 KDM4C 0 genome.wustl.edu 37 9 7165248 7165248 + Missense_Mutation SNP G G T TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 9 7165248 7165248 G T SNP KDM4C ENST00000381309 human ensembl 74_37 +1 known missense c.2792 p.C931F 1.000 smart_Tudor pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,superfamily_Chorismate_mutase_type_II,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4C HGNC ENSG00000107077 tier1 - - 65 0 0.00 19 3 13.64 GL 0 genome.wustl.edu 37 18 11689669 11689670 + In_Frame_Ins INS - - GGCCCT TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 18 11689669 11689670 - GGCCCT INS GL ENST00000334049 human ensembl 74_37 +1 known in_frame_ins c.107_108 p.40in_frame_insLA 0.981:0.814 NULL pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_S - no_errors GL HGNC ENSG00000141404 tier1 COQ3 0 genome.wustl.edu 37 6 99817499 99817499 + Missense_Mutation SNP C C T TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 6 99817499 99817499 C T SNP COQ3 ENST00000254759 human ensembl 74_37 -1 known missense c.1087 p.V363M 0.001 NULL pfam_Methyltransf_11,pfam_Methyltransf_12,pfam_Mycolic_cyclopropane_synthase,pfam_UbiE/COQ5_MeTrFase,pfam_Small_mtfrase_dom,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_SAM-MeTfrase_NodS-related,tigrfam_UbiG_MeTrfase - no_errors COQ3 HGNC ENSG00000132423 tier1 - - 17 0 0.00 9 6 40.00 MTA3 0 genome.wustl.edu 37 2 42936306 42936306 + R DEL T T - TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 2 42936306 42936306 T - DEL MTA3 ENST00000475383 human ensembl 74_37 +1 known rna NULL NULL 0.005 - - - no_errors MTA3 HGNC ENSG00000057935 tier1 59 0 0.00 35 4 10.26 ERN2 0 genome.wustl.edu 37 16 23722303 23722303 + Missense_Mutation SNP A A G TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 16 23722303 23722303 A G SNP ERN2 ENST00000256797 human ensembl 74_37 -1 known missense c.274 p.S92P 1.000 superfamily_Quinonprotein_ADH-like_supfam,smart_PQQ_beta_propeller_repeat pfam_KEN_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Quinonprotein_ADH-like_supfam,smart_PQQ_beta_propeller_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PUG-dom,pfscan_Prot_kinase_dom - no_errors ERN2 HGNC ENSG00000134398 tier1 - - 14 0 0.00 4 6 60.00 CDH9 0 genome.wustl.edu 37 5 26915756 26915756 + Missense_Mutation SNP G G T TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 5 26915756 26915756 G T SNP CDH9 ENST00000231021 human ensembl 74_37 -1 known missense c.505 p.P169T 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH9 HGNC ENSG00000113100 tier1 - - 31 0 0.00 19 3 13.64 ENSG00000216173 0 genome.wustl.edu 37 14 99828628 99828628 + R SNP C C G TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 14 99828628 99828628 C G SNP ENSG00000216173 ENST00000401354 human ensembl 74_37 +1 novel rna NULL NULL 0.000 - - - no_errors AL132819.1 Clone_based_ensembl_gene ENSG00000216173 tier1 - - 24 0 0.00 13 5 27.78 IRX2 0 genome.wustl.edu 37 5 2749852 2749852 + Missense_Mutation SNP T T C TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 5 2749852 2749852 T C SNP IRX2 ENST00000302057 human ensembl 74_37 -1 known missense c.299 p.Y100C 1.000 superfamily_Homeodomain-like pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom - no_errors IRX2 HGNC ENSG00000170561 tier1 - - 38 0 0.00 82 12 12.77 ARHGEF28 0 genome.wustl.edu 37 5 73189057 73189057 + Missense_Mutation SNP C C T TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 5 73189057 73189057 C T SNP ARHGEF28 ENST00000545377 human ensembl 74_37 +1 known missense c.3602 p.S1201F 0.996 NULL pfam_DH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors ARHGEF28 HGNC ENSG00000214944 tier1 - - 49 0 0.00 16 16 50.00 SRI 0 genome.wustl.edu 37 7 87849305 87849305 + Frame_Shift_Del DEL A A - TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 7 87849305 87849305 A - DEL SRI ENST00000265729 human ensembl 74_37 -1 known frame_shift_del c.37 p.Y13fs 0.995 NULL smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors SRI HGNC ENSG00000075142 tier1 22 0 0.00 15 2 11.76 ENOPH1 0 genome.wustl.edu 37 4 83378094 83378094 + Missense_Mutation SNP G G T TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 4 83378094 83378094 G T SNP ENOPH1 ENST00000273920 human ensembl 74_37 +1 known missense c.549 p.K183N 0.997 pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_Enolase-ppase_E1,tigrfam_HAD-SF_hydro_IA pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_Enolase-ppase_E1,tigrfam_HAD-SF_hydro_IA - no_errors ENOPH1 HGNC ENSG00000145293 tier1 - - 73 0 0.00 29 3 9.38 PCDHAC1 0 genome.wustl.edu 37 5 140307701 140307701 + Silent SNP C C A TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 5 140307701 140307701 C A SNP PCDHAC1 ENST00000253807 human ensembl 74_37 +1 known silent c.1224 p.I408 0.000 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 PCDHAC1 HGNC ENSG00000248383 tier1 - - 33 0 0.00 17 9 34.62 PCDHGB8P 0 genome.wustl.edu 37 5 140806086 140806086 + R SNP C C T TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 5 140806086 140806086 C T SNP PCDHGB8P ENST00000502926 human ensembl 74_37 +1 known rna NULL NULL 0.225 - - - no_errors PCDHGB8P HGNC ENSG00000248449 tier1 - - 28 0 0.00 5 8 61.54 NPAP1 0 genome.wustl.edu 37 15 24921079 24921079 + Missense_Mutation SNP G G A TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 15 24921079 24921079 G A SNP NPAP1 ENST00000329468 human ensembl 74_37 +1 known missense c.65 p.R22H 0.000 NULL NULL - no_errors NPAP1 HGNC ENSG00000185823 tier1 - - 44 0 0.00 16 12 42.86 APOBEC3F 0 genome.wustl.edu 37 22 39439095 39439095 + Silent SNP G G A TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 22 39439095 39439095 G A SNP APOBEC3F ENST00000308521 human ensembl 74_37 +1 known silent c.171 p.Q57 0.066 pfam_APOBEC_N pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like - no_errors APOBEC3F HGNC ENSG00000128394 tier1 - - 78 0 0.00 69 7 9.21 RPLP2 0 genome.wustl.edu 37 11 810010 810018 + R DEL CTCCGCCGC CTCCGCCGC - TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 CTCCGCCGC CTCCGCCGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 11 810010 810018 CTCCGCCGC - DEL RPLP2 ENST00000532004 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000:0.006:0.006:0.009:0.013:0.013:0.025:0.024 - - - no_errors RPLP2 HGNC ENSG00000177600 tier1 SLC25A13 0 genome.wustl.edu 37 7 95814251 95814251 + Missense_Mutation SNP A A G TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 7 95814251 95814251 A G SNP SLC25A13 ENST00000416240 human ensembl 74_37 -1 known missense c.1009 p.S337P 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_EF_hand_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A13 HGNC ENSG00000004864 tier1 - - 58 0 0.00 62 24 27.91 ENSG00000221388 0 genome.wustl.edu 37 2 213628287 213628350 + R DEL ATATATATGTGTATATATATATATATATATATGTGTGTGTATATATATATATATATATATGTGT ATATATATGTGTATATATATATATATATATATGTGTGTGTATATATATATATATATATATGTGT - TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 ATATATATGTGTATATATATATATATATATATGTGTGTGTATATATATATATATATATATGTGT ATATATATGTGTATATATATATATATATATATGTGTGTGTATATATATATATATATATATGTGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 2 213628287 213628350 ATATATATGTGTATATATATATATATATATATGTGTGTGTATATATATATATATATATATGTGT - DEL ENSG00000221388 ENST00000408461 human ensembl 74_37 -1 novel rna NULL NULL 0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.078:0.105:0.126:0.142:0.155:0.163:0.169:0.171:0.171:0.168:0.162:0.154:0.141:0.124:0.103:0.097:0.089:0.078:0.063:0.044:0.018:0.009:0.007 - - - no_errors AC093865.1 Clone_based_ensembl_gene ENSG00000221388 tier1 AP5B1 0 genome.wustl.edu 37 11 65547285 65547285 + Missense_Mutation SNP G G T TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 11 65547285 65547285 G T SNP AP5B1 ENST00000532090 human ensembl 74_37 -1 novel missense c.679 p.L227I 0.014 NULL NULL - no_errors AP5B1 HGNC ENSG00000254470 tier1 - - 54 0 0.00 37 4 9.76 ITPR1 0 genome.wustl.edu 37 3 4856236 4856236 + Missense_Mutation SNP C C A TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 3 4856236 4856236 C A SNP ITPR1 ENST00000302640 human ensembl 74_37 +1 known missense c.7646 p.P2549Q 1.000 pfam_Ion_trans_dom pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR1 HGNC ENSG00000150995 tier1 - - 28 0 0.00 20 4 16.67 GPR174 0 genome.wustl.edu 37 X 78427344 78427344 + Silent SNP T T C TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e X 78427344 78427344 T C SNP GPR174 ENST00000276077 human ensembl 74_37 +1 known silent c.840 p.L280 0.987 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR174 HGNC ENSG00000147138 tier1 - - 23 0 0.00 7 12 63.16 CWC22 0 genome.wustl.edu 37 2 180830631 180830633 + In_Frame_Del DEL TCT TCT - TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 TCT TCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 2 180830631 180830633 TCT - DEL CWC22 ENST00000295749 human ensembl 74_37 -1 known in_frame_del c.1289_1287 p.E432in_frame_del 1.000:1.000:0.963 NULL pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI - no_errors CWC22 HGNC ENSG00000163510 tier1 74 0 0.00 13 2 13.33 NCAN 0 genome.wustl.edu 37 19 19338426 19338426 + Missense_Mutation SNP C C T TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 19 19338426 19338426 C T SNP NCAN ENST00000252575 human ensembl 74_37 +1 known missense c.1997 p.T666M 0.006 NULL pfam_Link,pfam_C-type_lectin,pfam_Sushi_SCR_CCP,pfam_Ig_V-set,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Link,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link,prints_AntifreezeII - no_errors NCAN HGNC ENSG00000130287 tier1 rs111534277 - 58 0 0.00 53 6 10.17 BMS1P8 0 genome.wustl.edu 37 16 33489916 33489916 + R SNP C C A TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 16 33489916 33489916 C A SNP BMS1P8 ENST00000567036 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors BMS1P8 HGNC ENSG00000260518 tier1 - - 15 0 0.00 13 6 31.58 CCAR1 0 genome.wustl.edu 37 10 70502216 70502216 + Missense_Mutation SNP G G T TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 10 70502216 70502216 G T SNP CCAR1 ENST00000265872 human ensembl 74_37 +1 known missense c.408 p.R136S 0.995 superfamily_-bd_OB-fold pfam_SAP_dom,superfamily_-bd_OB-fold,smart_SAP_dom,pfscan_SAP_dom - no_errors CCAR1 HGNC ENSG00000060339 tier1 - - 66 0 0.00 33 4 10.81 PSMC6 0 genome.wustl.edu 37 14 53194452 53194452 + R SNP A A G TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 14 53194452 53194452 A G SNP PSMC6 ENST00000557557 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors PSMC6 HGNC ENSG00000100519 tier1 - - 53 0 0.00 15 10 40.00 ENSG00000251273 0 genome.wustl.edu 37 5 25190589 25190589 + R SNP G G A TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 5 25190589 25190589 G A SNP ENSG00000251273 ENST00000507600 human ensembl 74_37 -1 known rna NULL NULL 0.032 - - - no_errors RP11-549K20.1 Clone_based_vega_gene ENSG00000251273 tier1 - - 52 0 0.00 44 4 8.33 KIAA0040 0 genome.wustl.edu 37 1 175129925 175129927 + In_Frame_Del DEL CTT CTT - TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 1 175129925 175129927 CTT - DEL KIAA0040 ENST00000423313 human ensembl 74_37 -1 known in_frame_del c.225_223 p.K75in_frame_del 0.993:0.993:0.999 NULL NULL - no_errors KIAA0040 HGNC ENSG00000235750 tier1 26 0 0.00 19 2 9.52 CHST10 0 genome.wustl.edu 37 2 101023037 101023037 + Splice_Site SNP C C G TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 2 101023037 101023037 C G SNP CHST10 ENST00000542617 human ensembl 74_37 -1 known splice_site c.244+1 e3+1 1.000 - - - no_errors CHST10 HGNC ENSG00000115526 tier1 - - 50 0 0.00 3 19 86.36 ZNF292 0 genome.wustl.edu 37 6 87969974 87969974 + Frame_Shift_Del DEL T T - TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 6 87969974 87969974 T - DEL ZNF292 ENST00000369577 human ensembl 74_37 +1 known frame_shift_del c.6627 p.S2210fs 0.779 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF292 HGNC ENSG00000188994 tier1 60 0 0.00 18 2 10.00 SCARB1 0 genome.wustl.edu 37 12 125267313 125267313 + Silent SNP C C T TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 12 125267313 125267313 C T SNP SCARB1 ENST00000261693 human ensembl 74_37 -1 known silent c.1446 p.K482 0.972 NULL pfam_CD36,prints_CD36,prints_CD36_antigen - no_errors SCARB1 HGNC ENSG00000073060 tier1 - - 89 0 0.00 42 66 61.11 ROBO3 0 genome.wustl.edu 37 11 124747470 124747470 + Missense_Mutation SNP C C T TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 11 124747470 124747470 C T SNP ROBO3 ENST00000397801 human ensembl 74_37 +1 known missense c.2902 p.H968Y 0.998 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors ROBO3 HGNC ENSG00000154134 tier1 - - 69 0 0.00 41 30 42.25 ARHGEF1 0 genome.wustl.edu 37 19 42408394 42408396 + In_Frame_Del DEL CTG CTG - TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 CTG CTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 19 42408394 42408396 CTG - DEL ARHGEF1 ENST00000337665 human ensembl 74_37 +1 known in_frame_del c.2065_2067 p.L692in_frame_del 1.000:1.000:1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_RGS-like_dom,pfam_DH-domain,superfamily_Regulat_G_prot_signal_superfam,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF1 HGNC ENSG00000076928 tier1 22 0 0.00 23 3 11.54 ZNF615 0 genome.wustl.edu 37 19 52505095 52505095 + Missense_Mutation SNP T T C TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 19 52505095 52505095 T C SNP ZNF615 ENST00000594083 human ensembl 74_37 -1 known missense c.209 p.E70G 0.000 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 ZNF615 HGNC ENSG00000197619 tier1 - - 65 0 0.00 42 16 27.59 CSN2 0 genome.wustl.edu 37 4 70823108 70823108 + Missense_Mutation SNP G G T TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 4 70823108 70823108 G T SNP CSN2 ENST00000353151 human ensembl 74_37 -1 known missense c.559 p.P187T 0.000 pfam_Casein,pirsf_Casein_beta pfam_Casein,pirsf_Casein_beta - no_errors CSN2 HGNC ENSG00000135222 tier1 - - 42 0 0.00 12 6 33.33 GPR82 0 genome.wustl.edu 37 X 41586873 41586873 + Silent SNP C C A TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e X 41586873 41586873 C A SNP GPR82 ENST00000302548 human ensembl 74_37 +1 known silent c.594 p.I198 0.059 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR82 HGNC ENSG00000171657 tier1 - - 40 0 0.00 40 12 23.08 SMPD3 0 genome.wustl.edu 37 16 68398795 68398795 + Missense_Mutation SNP G G A TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 16 68398795 68398795 G A SNP SMPD3 ENST00000219334 human ensembl 74_37 -1 known missense c.1414 p.R472W 1.000 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase - no_errors SMPD3 HGNC ENSG00000103056 tier1 - - 73 0 0.00 46 17 26.98 CYFIP1 0 genome.wustl.edu 37 15 22929738 22929738 + Missense_Mutation SNP G G T TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 15 22929738 22929738 G T SNP CYFIP1 ENST00000313077 human ensembl 74_37 +1 known missense c.412 p.G138W 1.000 pirsf_Cytoplasmic_FMR1-int_sub pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int - no_errors CYFIP1 HGNC ENSG00000068793 tier1 - - 26 0 0.00 16 4 20.00 ENSG00000221279 0 genome.wustl.edu 37 7 110568408 110568413 + R DEL CACACA CACACA - TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 CACACA CACACA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 7 110568408 110568413 CACACA - DEL ENSG00000221279 ENST00000408352 human ensembl 74_37 +1 novel rna NULL NULL 0.000:0.003:0.009:0.052:0.060:0.063 - - - no_errors AC005161.1 Clone_based_ensembl_gene ENSG00000221279 tier1 PTCHD2 0 genome.wustl.edu 37 1 11586796 11586796 + Missense_Mutation SNP G G A TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 1 11586796 11586796 G A SNP PTCHD2 ENST00000294484 human ensembl 74_37 +1 known missense c.2702 p.R901H 1.000 NULL pfam_Patched,pfam_MMPL_dom,pfscan_SSD - no_errors PTCHD2 HGNC ENSG00000204624 tier1 - - 63 0 0.00 32 20 38.46 ADSSL1 0 genome.wustl.edu 37 14 105207463 105207463 + Nonsense_Mutation SNP G G T TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 14 105207463 105207463 G T SNP ADSSL1 ENST00000332972 human ensembl 74_37 +1 known nonsense c.805 p.E269* 1.000 pfam_Adenylosuccinate_synthetase,superfamily_P-loop_NTPase,smart_Adenylosuccinate_synthetase,tigrfam_Adenylosuccinate_synthetase pfam_Adenylosuccinate_synthetase,superfamily_P-loop_NTPase,smart_Adenylosuccinate_synthetase,tigrfam_Adenylosuccinate_synthetase - no_errors ADSSL1 HGNC ENSG00000185100 tier1 - - 33 0 0.00 12 3 20.00 VWF 0 genome.wustl.edu 37 12 6125336 6125336 + Missense_Mutation SNP C C A TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 12 6125336 6125336 C A SNP VWF ENST00000261405 human ensembl 74_37 -1 known missense c.5374 p.A1792S 0.376 pirsf_VWF,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pirsf_VWF,pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C - no_errors VWF HGNC ENSG00000110799 tier1 - - 29 0 0.00 16 5 23.81 OR4N2 0 genome.wustl.edu 37 14 20296162 20296162 + Silent SNP C C T TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 14 20296162 20296162 C T SNP OR4N2 ENST00000315947 human ensembl 74_37 +1 known silent c.555 p.I185 0.991 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 OR4N2 HGNC ENSG00000176294 tier1 - - 151 0 0.00 104 10 8.77 SYCP2L 0 genome.wustl.edu 37 6 10935392 10935392 + Silent SNP G G A TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 6 10935392 10935392 G A SNP SYCP2L ENST00000283141 human ensembl 74_37 +1 known silent c.1785 p.L595 0.876 NULL NULL - no_errors SYCP2L HGNC ENSG00000153157 tier1 - - 106 0 0.00 33 29 46.77 NME9 0 genome.wustl.edu 37 3 138023764 138023764 + Missense_Mutation SNP C C T TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 3 138023764 138023764 C T SNP NME9 ENST00000333911 human ensembl 74_37 -1 known missense c.742 p.V248I 0.033 pfam_Nucleoside_diP_kinase,superfamily_Nucleoside_diP_kinase,smart_Nucleoside_diP_kinase pfam_Nucleoside_diP_kinase,pfam_Thioredoxin_domain,superfamily_Nucleoside_diP_kinase,superfamily_Thioredoxin-like_fold,smart_Nucleoside_diP_kinase,prints_Nucleoside_diP_kinase - no_errors NME9 HGNC ENSG00000181322 tier1 - - 26 0 0.00 0 10 100.00 MUC16 0 genome.wustl.edu 37 19 9033260 9033260 + Silent SNP G G A TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 19 9033260 9033260 G A SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known silent c.36366 p.L12122 0.002 pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 27 0 0.00 17 4 19.05 FAT2 0 genome.wustl.edu 37 5 150932823 150932823 + Silent SNP C C G TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 5 150932823 150932823 C G SNP FAT2 ENST00000261800 human ensembl 74_37 -1 known silent c.4071 p.T1357 0.167 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT2 HGNC ENSG00000086570 tier1 - - 83 0 0.00 32 8 19.51 LOC150776 0 genome.wustl.edu 37 2 132258153 132258154 + R INS - - ACCTGCTACCTACCTGCTACCTGCTACCTG TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 2 132258153 132258154 - ACCTGCTACCTACCTGCTACCTGCTACCTG INS LOC150776 ENST00000438378 human ensembl 74_37 +1 known rna NULL NULL 1.000:0.997 - - - no_errors AC093838.4 Clone_based_vega_gene ENSG00000152117 tier1 SLC44A1 0 genome.wustl.edu 37 9 108120650 108120650 + Silent SNP A A T TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 9 108120650 108120650 A T SNP SLC44A1 ENST00000374720 human ensembl 74_37 +1 known silent c.696 p.I232 1.000 NULL pfam_Choline_transptr-like - no_errors SLC44A1 HGNC ENSG00000070214 tier1 - - 82 0 0.00 76 21 21.43 ASB10 0 genome.wustl.edu 37 7 150873260 150873260 + Missense_Mutation SNP A A G TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 7 150873260 150873260 A G SNP ASB10 ENST00000422024 human ensembl 74_37 -1 known missense c.1478 p.L493P 0.998 pfam_SOCS_C,smart_SOCS_C,pfscan_SOCS_C pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt - no_errors ASB10 HGNC ENSG00000146926 tier1 rs74456406 - 39 0 0.00 43 4 8.51 SLCO6A1 0 genome.wustl.edu 37 5 101834275 101834275 + Missense_Mutation SNP C C A TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 5 101834275 101834275 C A SNP SLCO6A1 ENST00000379807 human ensembl 74_37 -1 known missense c.274 p.G92C 0.000 NULL pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter - no_errors SLCO6A1 HGNC ENSG00000205359 tier1 - - 68 0 0.00 29 4 12.12 TRPM1 0 genome.wustl.edu 37 15 31359349 31359349 + Missense_Mutation SNP A A G TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 15 31359349 31359349 A G SNP TRPM1 ENST00000542188 human ensembl 74_37 -1 known missense c.586 p.S196P 1.000 NULL pfam_Ion_trans_dom - no_errors TRPM1 HGNC ENSG00000134160 tier1 - - 76 0 0.00 31 23 42.59 MIR3156-1 0 genome.wustl.edu 37 10 45659534 45659535 + R DEL TG TG - TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 TG TG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 10 45659534 45659535 TG - DEL MIR3156-1 ENST00000579389 human ensembl 74_37 +1 known rna NULL NULL 0.015:0.011 - - - no_errors MIR3156-1 HGNC ENSG00000263476 tier1 121 0 0.00 33 4 10.81 CHD8 0 genome.wustl.edu 37 14 21869125 21869125 + Missense_Mutation SNP C C A TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 14 21869125 21869125 C A SNP CHD8 ENST00000399982 human ensembl 74_37 -1 known missense c.4279 p.D1427Y 1.000 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_BRK_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_D/R_helicase_DEAD/DEAH_N,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 CHD8 HGNC ENSG00000100888 tier1 - - 44 0 0.00 21 4 16.00 NPAT 0 genome.wustl.edu 37 11 108043652 108043652 + Missense_Mutation SNP G G T TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 11 108043652 108043652 G T SNP NPAT ENST00000278612 human ensembl 74_37 -1 known missense c.2059 p.L687M 0.001 NULL smart_LisH_dimerisation,pfscan_LisH_dimerisation - no_errors NPAT HGNC ENSG00000149308 tier1 - - 30 0 0.00 7 3 30.00 PRSS53 0 genome.wustl.edu 37 16 31098211 31098211 + Missense_Mutation SNP G G A TCGA-DX-AATS-01A-12D-A417-09 TCGA-DX-AATS-10A-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 43fdb154-9d2c-4534-bd95-7d1a697adaca e7741100-a22b-4389-9dcc-838eeff5765e 16 31098211 31098211 G A SNP PRSS53 ENST00000280606 human ensembl 74_37 -1 known missense c.251 p.A84V 0.000 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,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 PRSS53 HGNC ENSG00000151006 tier1 - - 37 0 0.00 3 9 75.00